NUR 417 Final Genomics Study Guide

Nursing Implications .

4-5% of people in Western society have alcohol dependence issues, the relapse rate is 50-80%. There is a presumed genetic predisposition. Intervention is determined by the individual's desire to be a part of the recovery process

Prenatal Care Topics Nursing Implications.... Preconception Counseling

A comprehensive medical, surgical, reproductive, psychological, social and family and genetic history should be obtained. The father's medical, family, genetic and reproductive history should be obtained. A three generation family pedigree and carrier testing should be done for common genetic disorders. Women at risk for passing on genetic anomalies should be counseled about options (assisted reproductive technologies: preimplantation diagnosis). Nutritional assessments, prenatal vitamins and exposure to environmental teratogens should be discussed.

Tumor Suppressor Genes

A family of normal genes that encode proteins with a number of different functions that inhibit cell growth and survival. Mutations cause these genes malfunction allowing tumor cells to grow and reproduce without being stopped.

Interleukins/Cytokines

Cytokines - polypeptide products of activated cells that control a variety of cellular responses to regulate immune response Made by leukocytes - refer to as interleukins (group of cytokines) In innate immunity - cytokines mediate early inflammatory reactions to microbial organisms and stimulate adaptive immune responses In adaptive immunity - stimulate proliferation and differentiation of antigen stimulated lymphocytes and activate specialized effector cells such as macrophages

Genomic Instability

A characteristic of most cancers. A high rate of abnormal chromosome structures and numbers Microsatellite Instability Increased frequency of base pair mutations.

Cancer stem theory

Cancer stem cells (CSCs) are also known as tumor- initiating cells. These cells have a role in initial cancer development, relapse, metastasis and treatment resistance. They are only beginning to be understood. If scientists are able to identify and target CSCs then they could save the normal stem cells from destruction. Where did the cancer stem cells come from? No answer to it

Three categories: caretaker, gatekeeper and landscaper genes.

Caretaker Genes Function to stabilize cell processes by directly participating in DNA repair. When these genes are inactivated the overall rate of mutations increases. Known genes: MLH1, MSH2, MSH6 and PMS2. Gatekeeper Genes Control cell growth by inhibiting proliferation through apoptosis (cell death) and/or promoting terminal differentiation. The genes must become inactivated before a cell can become cancerous and they are tissue specific. Example: mutations in the APC gatekeeper gene have been found in the majority of colon tumors. Landscaper Genes They adapt the microenvironment in which cell exist. Example: Inactivation of the SMAD4 gene alters the colon mucosa, setting up and abnormal microenvironment that promotes the growth of epithelial neoplasia.

Cell Cycle

Cell cycle: composed of nondivision and division Three parts: Interphase, Mitosis and Cytokenesis

COMT gene

Chatecol-O-methyltransferase (COMT): degrades catecholamines such as dopamine, epinephrine and norepinephrine. Allelic variation of the gene can then influence the involvement of cortisol and dopamine in emotional regulation. Variations in the gene encoding COMT are considered to place an individual at risk for development of BPD. A variation in the COMT gene could lead to a reduction of the degradation of dopamine which could manifest as mania.

Implications

Genetic testing is only available for monogenetic forms of diseases. We are working on genotyping to predict responsiveness to medications. This currently exists for sulfonylureas for NIDDM. Better understanding of genetic linkage will ultimately help in prevention of disease.

DNA, RNA & Protein Synthesis

Molecular genetics is centered on who DNA provides the codes for proteins DNA RNA Proteins DNA - double Helix Bases are adenine (A), cytosine©, guanine (G) and thymine (T) A - T G - C RNA - single strand Uracil (U), cytosine, guanine and adenine A - U G - C 20 amino acids - UAA and UAG are termination sequence (ending sequence or stop codons) It is a 2 step process Transcription: how DNA makes RNA Translation: the actual formation of proteins

Music

Music has been shown to improve heart and respiratory rates, decrease blood pressure, decrease anxiety and pain and actually impact the structure of the brain. Nursing Implications: A study showed that music therapy instituted with a nurse present had a higher rate of success as an intervention for cancer patients. Nurses' presences matter!

The Family History

One of the most important tools used in diagnosing and assessing for common diseases. A positive family history for a heritable disease has been recognized as a risk factor for that disease in related individuals. It is the first step before genetic testing can be done. The genogram was developed by Murray Bowen.

Immunodeficiency Diseases

Primary: when one or more components of the immune system are missing or not functioning properly. (Hyper IgE Syndrome) Secondary: components of the immune system are destroyed by other factors. (HIV)

Oncogenes

Proto-oncogenes: normal genes whose protein products contribute to fundamental cellular processes such as cell division and differentiation. Everyone has it! Mutations in these genes result in oncogene formation. Proto-oncogenes (precancer) to oncogene (cancer) The presence of an oncogene is like having a gas pedal that is stuck to the floor board causing cells to continually grow and divide. Example: Gleevec® targets protein kinases in the BCR-ABL oncogene in chronic myeloid leukemia.

Education, Care and Support

Provide clients with interpretation of genetic information Can you explain it? Provide clients with credible genetic information to facilitate decision making Uses health promotion practices that consider genomic influences and incorporate genomic risk factors Uses genetic based interventions Collaborate with other healthcare providers to provide genomic health care Collaborates with insurance providers Performs interventions appropriate to clients' genomic health care needs Evaluates impact and effectiveness of genomic treatments. Above is for all of RNs

Pharmacogenomics

Provides a more comprehensive look at the interconnectedness of pharmacology and genetics. Understanding and relating multiple genes and their contribution to variability in drug response. Specifically: drug sensitivity

Pretest chapter 21

Pr•1. In assessing a client for a substance related disorder, a nurse would 1.consider only possible use of illegal substances. 2.assess the client for medication-related side effects. 3.assess the client for toxin exposure only if there is no close relative who also has a diagnosed substance use disorder. 4.assess the client for tolerance only if substances were used in the immediately preceding 24 hours. •2. People who are drug dependent 1.do not recognize costs of the dependency. 2.are often able to stop using on their own. 3.keep using despite recognizing associated difficulties and costs. 4.often have no specific associated behavior or cognitive disturbances or decline. •3. If a person is alcohol dependent 1.this can change the genotype of the alcohol-dependent person. 2.it is possible that the genotype has rendered him or her vulnerable to alcoholism. 3.he or she is not likely to have relatives with alcohol problems. 4.it is certain that if an alcohol-dependent person has children, those children will have problems with alcohol. •4. Genetics associated with alcohol problems are 1.simple. 2.completely understood. 3.always going to involve specific genetic variations on one part of the genome. 4.complex. •5. Substance abuse results from 1.nature. 2.nurture. 3.nature, nurture, and genetic modifications due to substance ingestion. 4.nature and nurture. •6. If a person has a genetic predisposition to substance dependency 1.no interventions will prevent full expression of vulnerability. 2.only medications will prevent full expression of vulnerability. 3. an array of psychotherapies can prevent full expression of vulnerability. 4.he or she will manifest specific intoxication and withdrawal symptoms. •7. Findings of genetics studies of substance abuse and dependence 1.can influence pharmacological and behavioral interventions. 2.can influence only pharmacological interventions. 3.can influence only behavioral interventions. 4.improve our understanding of heritability of these problems but are not relevant to treatment. •8. Defining phenotypes is 1.not helpful for treatment. 2.helpful for treatment. 3.unrelated to assessing the client's metabolic functioning. 4.helpful when considering the client's possible responses to psychotropic prescribed medication only. •9. Genetic research 1.has helped to develop pharmacologic treatments for some substance-related disorders. 2.has helped to develop pharmacologic treatments for all substance-related disorders. 3.has helped to develop pharmacologic treatments for substance-related disorders associated only with single nucleotide polymorphisms. 4.has helped to develop pharmacologic treatments for substance-related disorders associated only with variations in the GABA receptor gene. •10. If a client has a blood relative who is alcohol dependent 1.the client has no presumed genetic predisposition to alcoholism. 2.the client will develop alcoholism. 3.the client will be relatively less likely to have medication side effects. 4.there is a presumed genetic predisposition to alcoholism. PRETEST Answers: 1. B; 2. C; 3. B; 4. D; 5. D; 6. C; 7. A; 8. B; 9. A; 10. D

Tips

Purpose: to gather sound information to help develop diagnoses and assessments, screen for other existing or potential health problems, establish a relationship between the provider and the client and develop a health care plan. Choose a private location Use good lighting Use appropriate ye contact Acknowledge if other family members are present and whether it is appropriate Provide the purpose of the questions Start with open ended questions Go from general to specific Watch the use of euphemisms and heavy medical terminology Be aware of cultural differences Be respectful at all times For an example, if you are asking a group of people who are largely hispanic, do you have a history of major depression disorder. They will say no because they don't believe in it. Change the way you are asking.

Processional Responsibilities

Recognize one's attitudes and values related to genetic science Advocate for clients' access to genetic servies Examine competency of practice Incorporate genetic technologies and information into practice. Demonstrate in practice the importance tailoring genetic information to clients' abilities Advocate for the rights of clients to make genetic related decisions.

Fetal Loss

SABO: spontaneous abortion. Most commonly caused by aneuploidy. (additionally or mixing of chromosomes) RPL: recurrent pregnancy loss. (3+ losses). Testing should be done on these fetuses to determine reason for loss. (karyotyping and placental evaluation)

Treatment

SNRIs & NDRIs Mechanism of action: target and inhibits the reuptake of norepinephrine and serotonin or dopamine. Example: Venlafaxine, Bupropion, and Duloxetine SSRIs Mechanism of action: target and inhibits the reuptake of serotonin. Example: Fluoxetine, Paroxetine and Sertraline

Nursing Implications

Sleep disruptions often precede disease exacerbation and could be a key point for early intervention. What interventions related to this statement can you think of? Sleep diary - have them rate their sleep in their diary and if there is a decrease in sleep, an intervention will occur not when they are already not having any sleeps in four days

Question

Specialty genetic providers typically provide all of the following services EXCEPT: A. Review and refine the comprehensive health and family health history. B. Request medical records to verify diagnoses. C. Assume responsibility for ongoing primary care. D. Provide a follow up summary letter to primary care providers. Answer is C

Normal development

Start at third week and ends around eight weeks - Critical stage Body forms begins with gastrulation - specific tissues and organs Neural tube, notochord (basis of bones of head and vertebral column), coelomic spaces (form three body cavities - pericardial, pleural and peritoneal cavity), and primitive cardiovascular system and blood cells Development is cephalocaudal (top to bottom or head to toe) By eigtht weeks, all essential internal and external structures are present

Question 9

The environment may influence risk and progression of common diseases by: A. Affecting lifestyle choices. B. Influencing epigenetic changes in DNA. C. Having direct effects on DNA. D. All of the above.

Autosomal Recessive

These disorders are only expressed when the mutated allele is present in two copies of a gene, one from mom and one from dad. Example: Sickle Cell Disease, Cystic Fibrosis Must have two copies for the condition to exist. Only one copy is the carrier (usually no clinical manifestation)

Umbilical cord

Thick embryonic body stalk attaches the embryo to the yolk sac and contain blood vessels (AVA) Wharton's jelly - This tissue helps to protect the umbilical cord from compression and kinking. Used for prenatal genetic testing and Rh isoimmunization

Codominant

This occurs when the contributions of both alleles are visible in the phenotype or equally shown. Example: ABO bloodtypes If dad is A and mom is B, their child could be AB.

Question 4

Those nurses who are required to have a basic genetic literacy include: A. Advanced practice nurses B. Nurses who practice in specialty areas C. Nurses who practice in medical-surgical nursing D. All nurses, regardless of practice area, clinical specialty or level of education. Answer is D

Common diseases

Those with high prevalence and mortality. Mostly defined by phenotype. Genetic markers have been difficult to identify as different genotypes can give rise to the same overall pathologic changes and disease manifestations. D

Fetal circulation

Three phases: Intrauterine Blood bypassed the fetal lungs and placenta supplies oxygen to the fetus and carbon dioxide is excreted out through the placenta Transition Cutting of the umbilical cord - causes an abrupt but transient rise in arterial pressure Rise in plasma carbon dioxide and fall I oxygen cause infant to start breathing Post birth DA is closed after a few days after birth DV becomes ligamentum venosum and is longer to close FO is immediately after birth Umbilical arteries constrict

Fetal development

Three trimesters 13 weeks each 9 weeks begin the fetal period Gestation is based on LMP Total is 40 weeks

Diabetes

To date 40 genes have been linked to increased risk for NIDDM however, these account for only 10% of heritable risk. Most genes that have been identified have roles in beta cells, pancreas, or pancreatic functioning. Very few genes have been identified that are linked to NIDDM pathophysiology (insulin resistance, glucose metabolism). Little supporting evidence of epigenetic factors is available at this time.

What are we studying?

To understand the concept of aging we are studying: Very long-lived individuals Premature aging (such as progeria) Age Related Disorders We are also studying genes related to specific age related diseases: Early and Late Onset Alzheimer Diseases Age related Macular Degeneration

Addiction

Your work: Review concepts related to substance abuse, dependence, intoxication, tolerance, and withdrawal. (notes from NUR 316) Substance Abuse (Chapter 14) Important Terms: - Addiction: A compulsive or chronic requirement. The need is so strong as to generate distress, either physical or psychological, if left unfulfilled. - Intoxication: A physical and mental state of exhilaration and emotional frenzy or lethargy and stupor. - Withdrawal: The physiological and mental readjustment that accompanies the discontinuation of an addictive substance. What predisposing factors contribute to substance abuse? - Biological: Genetics, Biochemical - Psychological: Developmental Influences, Personality Factors - Sociocultural: Social Learning, Conditioning, Cultural and Ethnic Influences What are the phases of Alcoholism? - Phase I (The prealcoholic phase): This phase of alcohol is characterized by the use of alcohol to relieve the everyday stress and tensions of life. As a child, the individual may have observes parents or other adults drinking alcohol and enjoying the effects. The child learns that use of alcohol is an acceptable method of coping with stress. - Phase II (The early alcoholic Phase): This phase begins with blackouts-brief periods of amnesia that occur during or immediately following a period of drinking. Now the alcohol is no longer a source of pleasure or relief for the individual but rather a drug that is REQUIRED by the individual. Common behaviors include sneaking drinks, secret drinking, and preoccupations with drinks and maintain the supply of alcohol. - Phase III (The Crucial Phase): The individual has LOST control and physiological addiction is clearly evident. This loss of control has been describes as the inability to choose whether or not to drink. Drinking is the total focus, and the individual is willing to risk losing everything that was once important in an effort to maintain the addiction. - Phase IV (The Chronic Phase): This phase is characterized by emotional and physical disintegration. The individual is usually intoxicated more than he or she is sober. Emotional disintegration is evidence by profound helplessness and self-pity. Impairment in reality may result in psychosis. Why is alcohol withdrawal the MOST dangerous? - Withdrawal patients seize and they seize uncontrollably. Delirium tremens. The seizures will kill you. What are the signs of intoxication? - Relaxation, loss of inhibitions, lack of concentration, drowsiness, slurred speech, and sleep. What are signs of chronic Alcohol Abuse? - Peripheral Neuropathy-This condition occurs when too much alcohol damages the peripheral nerves. This can be permanent. Deficiencies in B6 and B12, thiamine, foliate, niacin, and vitamin E can make it worse. These vitamins are all needed for proper nerve function. Symptoms include: numbness, tingling, and prickly sensations in the arms and legs, muscle spasms and cramps, muscle weakness, movement disorders, urinary and bowel problems like incontinence, constipation, and diarrhea, sexual dysfunction, difficulty swallowing, impaired speech, dizziness, vomiting and nausea - Alcoholic Myopathy-Alcohol affects muscle fibers causing alcoholic myopathy. Drinking too much alcohol over time can weaken the muscles. This condition can be acute or chronic. Symptoms include: muscle weakness, atrophy (decrease in muscle mass, also called muscle wasting), muscle cramps, stiffness, spasms - Wernicke's Encephalopathy-refers to the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). They present like they're demented. Symptoms include: mental confusion, poor muscle coordination, paralysis of the nerves that move the eyes. - Korsakoff's Psychosis- is long-lasting (chronic). It usually develops as Wernicke's symptoms go away. Symptoms include: problems with learning and memory (amnesia), forgetfulness, poor coordination, difficulty walking (NIAAA) - Alcoholic Cardiomyopathy: is a disease in which the chronic long-term abuse of alcohol (i.e. ethanol) leads to heart failure. Alcoholic cardiomyopathy is a type of dilated cardiomyopathy. Due to the direct toxic effects of alcohol on heart muscle, the heart is unable to pump blood efficiently, leading to heart failure. - Esophagitis, Gastritis, Pancreatitis - Hepatitis, Cirrhosis, Leukopenia, Thrombocytopenia, Sexual Dysfunction - Bleeding in the esophagus is COMMON - Barrett's esophagus which leads to cancer What is Fetal Alcohol Syndrome? - A group of signs and symptoms that appear together and indicate a certain condition. In the case of FAS, the signs and symptoms are birth defects that result from a woman's use of alcohol during her pregnancy Symptoms include: Abnormal facial features, Small head size, Shorter than average height, Low body weight, Poor coordination, Hyperactivity, Poor concentration, Speech and language delays, Low IQ or Intellectual disability, Vision and hearing problems, Poor reasoning and judgment skills. - They look mentally retarded. You can't fix or change the symptoms. The child has this for the remainder of their life. What withdrawal symptoms do alcohol patients present with? - Tremor (commonly in their hands), Nausea/ vomiting, Malaise/ weakness, Tachycardia, Sweating, Elevated BP( it goes sky high), Anxiety, Depressed Mood, Irritability, Headache, Insomnia, Transient hallucinations/ illusions, Alcohol Withdrawal Delirium (recently known as delirium tremens) What drugs are classified under the sedative, hypnotic, and anxiolytic use disorder? - Barbiturates, Nonbarbiturate hypnotics, Antianxiety agents, Club drugs. - Phenobarbital, Ativan, Ambien, Rohypnol - Blue birds, blue angels, yellow jackets, red devils, Mickey, sleepers, roaches, Candy, Dolls, Roofies, Rope, Liquid X, easy lay, Grievous bodily harm - Intoxication: Decreased amount of sleep time spent dreaming. Inhibits RAS and causes respiratory depression (This is the MAJOR concern). Hypotension. Decreased body temperature. Biphasic response in sexual functioning( there are two distinct phases. In the beginning, they are overly attracted to one another, and then as it progresses, they are incapable.) Inappropriate sexual or aggressive behavior, mood liability, impaired judgment, impaired social or occupational functioning, slurred speech, incoordination, unsteady gait, and impairment in memory, stupor or coma. - Withdrawal: sweating, increased pulse rate, tremor, insomnia, N/V, hallucinations, psychomotor agitation, anxiety, Grand Mal Seizures. What drugs are classified under Stimulant Use disorder? - Amphetamines, Synthetic Stimulants, Nonamphetamine Stimulants, Cocaine, Caffeine, Nicotine - Dexedrine, Adderall, Ritalin, Provigil - Uppers, Truck Drivers, Meth, Speed, Crystal, Ice, Adam, Eve, Bath salts, Coke, Blow, Snow, Lady, Crack. - Intoxication: Tremor, Restlessness, Anorexia, Insomnia, Agitation, Increased alertness, Elation, Euphoria, Increased VS, Diuretic, Decreased GI motility, Increased sexual urges - Withdrawal: fatigue, depression, nightmares, headache, profuse sweating, hunger, cramps. WE CAN DO ANYTHING TO HELP THIS. What drugs are classified under Inhalant Use Disorder? - Gasoline, Varnish Remover, Lighter Fluid, Rubber Cement, Cleaning Fluid, Spray Paint, Correction Fluid - Inhaled through huffing(spraying it in cloth, putting it over your nose, and breathing) or bagging (putting it into a bag and inhaling deeply like you do when you're hyperventilating. - Intoxication: dizziness, euphoria, slurred speech, hypoactive reflexes, psychomotor retardation, muscle weakness, blurred vision, stupor. - Withdrawal: a mild withdrawal syndrome has been documented but does not appear to be clinically significant What drugs are classified under Opioid Use Disorder? - Opioids of natural origin, Opioid derivatives, Synthetic Opiate-like Drugs. - Opium, Morphine, Heroin, Dilaudid, OxyContin, Demerol - Poppy, Tar, Big O, Horse, Junk, Smack, Vike, Percs, OC, Doctors, Apache, China Girl, Goodfella, Jackpot - Intoxication: Euphoria, lethargy somnolence, apathy, pupillary constriction, decreased VS, slurred speech. - Withdrawal: N/V (SEVERE), muscle aches, rhinorrhea (runny nose, tearful eyes), pupillary dilation, sweating, diarrhea( colera-like), yawning, fever, insomnia. What drugs are classified under Hallucinogen Use Disorder? - Naturally Occurring Hallucinogens, Synthetic Compounds - Mescaline, Psilocybin, LSD, PCP, MDMA - Cactus, Half Moon, Big Chief, Shrooms, God's Flesh, Heavenly Blue, Pearly Gates, Cube, California Sunshine, Blue Dots, Peace Tablets, Purple Haze, STP, Angel Dust, Love Drug, Bath Salts, KitKat, XTC - Intoxication: belligerence, assaultiveness, impulsiveness, increased VS, diminished pain response, muscle rigidity, seizures, sweating, increased body temperature, fear of losing control - NO KNOWN PHYSICAL WITHDRAWAL symptoms. What drugs are classified under Cannabis Use Disorder? - Marijuana, Hashish - Joint, Weed, Pot, Grass, Mary Jane, Hash, Ganja, MJ - Intoxication: Euphoria, anxiety, suspiciousness, sensation of slowed time, tachycardia, conjunctiva redness, increased appetite, hallucinations - Withdrawal: irritability, nervousness, anxiety, sleep difficulty, decreased appetite, depressed mood, abdominal pain, sweating, fever, chills. What is a Dual Diagnosis? - A co-occurring mental illness and substance use disorder. - More supportive and less confrontational approach to treatment - If you treat the mental illness, by default you'll be treating the substance abuse illness. What issues are related to substance use? - The chemically impaired nurse - Codependency (when you as the addictive person is as addicted to the disorder as the addict. i.e. parents who give the child money to buy the drugs.) It's hard to treat - The codependent nurse How can these disorders be treated? - The Anonymous Organizations, the recovery model, counseling, and/or group therapy. What is the recovery model? - "Recovery from mental health disorders and substance abuse is a process of change through which individuals improve their health and wellness, live a self-directed life, and strive to achieve their full potential." - Basic Concept: Empowerment of the consumer. This model of care is designed to allow consumers primary control over decisions about their own care. - IN BOTH, the PATIENT is in control. What are the Four Dimensions of the model? - Health(PRIMARY) That they are doing all things in their power to get better. - Home- that you are a part of a "home" (biological family, recovery house) That you are contributing to your "home" - Purpose- A sense of purpose, whatever it may be - Community What are the principles of recovery? Recovery emerges from hope Recovery is person driven Recovery occurs via many pathways Recovery is holistic Recovery is supported by peers and allies Recovery is supported through relationship and social networks Recovery is culturally based and influenced Recovery is supported by addressing trauma Recovery involves individual, family, and community strengths and responsibility Recovery is based on respect What is the psychopharmacology ? - Supportive Meds("comfort meds"): Bentyl, Clonidine, Tigan, Motrin, Loperamide - Alcohol: Serax (Oxazepam) - Opioids: Methadone or Suboxone - Anxiolytics: Klonopin (Clonazepam) Supportive Meds Bentyl (abdominal cramping), Clonidine, Tigan (N/V), Motrin, Loperamide (for diarrhea) Alcoohol Serax (Oxazepam) Opioids Methadone or Suboxone - replacement therapy They take large doses of these methadone to prevent their ability to get high. They are keeping them even Maintenance Suboxone - a blocker works differently from methadone trusty drug addicts found if you shove it up your ass instead of under your tongue you will get high from it Anxiolytics Klonopin (Clonazepam) - long acting and for people who are withdrawing from benzos Detox them at the same time so we give them a lot of the things that are respiratory depressant - as a nurse we must be viliginat with their vital signs and monitoring their patients

Posttest chapter 24

•1. A common change in DNA sequence that occurs in greater than 10% of the population is called a 1.mutation. 2.phenotype. 3.polymorphism. 4.single gene disorder. •2. Late onset Alzheimer disease (AD) is characterized by 1.an autosomal dominant pattern of inheritance. 2.familial clustering but no clear pattern of inheritance. 3.known mutations in three genes. 4.onset prior to age 60-65. •3. Using the family history of an 82-year-old female recently diagnosed with Alzheimer disease, what nursing action would provide more family-related information for the registered nurse and the health care team? 1.Administer the Mini-Mental State Exam to the patient. 2.Construct a pedigree to display her family health history data. 3.Develop a plan of care with short- and long-term goals. 4.Determine who is her medical power of attorney. •4. Diseases that have an X-linked recessive inheritance pattern will 1.have mutations on the Y chromosome. 2.have a horizontal transmission pattern. 3.have a mutation on an autosome. 4.not transmit the disease from male to male. •5. Emerging genetics knowledge will provide gerontological nurses the ability to individualize (personalize) interventions according to genetic variation or risk. Examples of such interventions include 1.diet modification. 2.exercise. 3.pharmacogenetics. 4.health screening tests. 5.All of the above •6. Which of the following genes is consistently associated with increased risk for developing late onset Alzheimer disease (AD susceptibility gene)? 1.Amyloid Precursor Protein 2.Presenilin 3.Apolipoprotein E (APOE) 4.Presenilin 2 •7. Clinical genetic testing is not yet available for the genes associated with early onset Alzheimer disease in high-risk families. A.True B.False •8. Which of the following versions (or alleles) of the APOE gene is associated with increased risk for Alzheimer disease? 1.APOE-1 allele 2.APOE-2 allele 3.APOE-3 allele 4.APOE-4 allele 5.None of the above •9. Which of the following genes are being studied for their effects on Warfarin dosing? 1.Amyloid Precursor Protein 2.Lamin A/C 3.Presenilin 1 4.Vitamin K epoxide reductase complex subunit 1 (VKORC1) •10. Which of the following findings is an indication for referral to specialty genetics services? 1.Client exhibits signs of cognitive impairment 2.Age of onset before age 60 in persons with Alzheimer disease 3.Diagnosis of a urinary tract infection 4.No clear patterns of Alzheimer disease inheritance noted in the pedigree POSTTEST Answers: 1. C; 2. B; 3. B; 4. D; 5. D; 6. C; 7. B; 8. D; 9. D; 10. B

Pretest chapter 13

•1. A family history can do all of the following, EXCEPT 1.help to establish a pattern of inherited disorders. 2.assist in identification of individuals who are at risk for genetic diseases. 3.determine who is a carrier of a genetic disease. 4.determine when someone will develop symptoms for a genetic disease. •2. The primary purpose of an individual's health history is to 1.gather sound information to help develop diagnoses and assessments. 2.establish a pattern of disease. 3.assist in identifying individuals at risk for developing inherited disorders. 4.determine how an individual responds to treatment. 1.1 and 2 2.1, 2, and 3 3.All of the above 4.None of the above •3. What is not considered a cultural factor? 1.Language 2.Health beliefs 3.Skin color 4.Religion •4. A health history on a 2-year-old child should include 1.mother's menstrual history. 2.father's surgical history. 3.prenatal and birth history. 4.mother's infertility history. •5. An example of consanguinity is when a child is born to a woman who is married to her uncle. A.True B.False •6. A pedigree is a graphic presentation of a family history using the following EXCEPT 1.pictures. 2.words and numbers. 3.abbreviations. 4.symbols. •7. The occurrence of affected individuals in every generation in a family suggests a trait. 1.autosomal dominant 2.autosomal recessive 3.random assortment 4.sex-linked •8. A family pedigree is considered a confidential and private document that must be protected. A.True B.False •9. A Punnett square is 1.a symbol used in a pedigree that indicates a female. 2.a mathematical tool used to predict the due date in a pregnancy. 3.a diagram that shows all possible genetic combinations of two parents. 4.a tool used to predict height of children based on their parents' stature. •10. A professional nurse with specialized education and training in genetics may be credential as a genetic clinical nurse (GCN). A.True B.False 1. C; 2. B; 3. C; 4. C; 5. A; 6. A; 7. A; 8. A; 9. C; 10. A

Posttest for chapter 10

•1. A recessive condition occurs when 1.one parent has a copy of abnormal gene. 2.both parents have a copy of the same abnormal gene. 3.neither parent has a copy of an abnormal gene. 4.a mutation in the genes occurs. •2. Prenatal screening is used for 1.only women who are at risk for a genetic condition. 2.only women who are advanced maternal age. 3.only women who request the screening. 4.all women who are pregnant. •3. Preconceptual screening is 1.useful to promote health and disease prevention. 2.a waste of time and money. 3.reserved for high risk childbearing women. 4.not recommended by any professional organizations. •4. Screening tests are used to 1.determine risk. 2.diagnosis a disease. 3.make a treatment plan. 4.teach women about genetics. •5. A woman who is at risk for producing a baby with a neural tube defect 1.should undergo prenatal screening and testing for alpha fetoprotein and have an amniocentesis. 2.must undergo prenatal screening and testing for alpha fetoprotein and have an amniocentesis. 3.should wait until the baby is born to determine what diagnostic tests should be done. 4.must wait until the baby is born to determine what diagnostic tests should be done. •6. Diagnostic tests are used to 1.determine risk. 2.diagnose a disease. 3.make a treatment plan. 4.teach women about genetics. •7. While genetic testing can identify the genetic composition of an individual, also known as the , it may not be able to accurately determine what a person actually will look like, which is known as the . 1.genotype; phenotype 2.phenotype; genotype 3.phenotype; allele 4.genotype; allele •8. Interconceptual education is important because 1.many pregnancies are unplanned; therefore, risks are undetermined. 2.a woman needs to know about genetic risks prior to pregnancy. 3.the time between pregnancies is when women tend to see their provider. 4.All of the above •9. Genetic testing is a new concept. A.True B.False •10. The family history tool is used 1.only when a woman is pregnant. 2.only when a woman is at risk for a genetic condition. 3.throughout the lifespan for any person. 4.throughout the lifespan for any person at risk for a genetic condition. 1. B; 2. D; 3. A; 4. A; 5. A; 6. B; 7. A; 8. D; 9. B; 10. C

Pretest for Chapter 5

•1. Aneuploidy is the presence of 1.telomere shortening. 2.telomere lengthening. 3.an abnormal number of chromosomes. 4.a lack of normative nullisomy. •2. Aneuploidy is believed to be caused by 1.low levels of steroidal hormones. 2.carcinogens. 3.maternal age under 18. 4.paternal age under 18. •3. Nullisomy is the 1.loss of one chromosome. 2.loss of two chromosomes. 3.addition of one chromosome. 4.addition of two chromosomes. •4. Monosomy is the 1.loss of one chromosome. 2.loss of two chromosomes. 3.addition of one chromosome. 4.addition of two chromosomes. •5. Down syndrome is an example of 1.nullisomy. 2.monosomy. 3.tetrasomy. 4.trisomy. •6. Autosomes are best described as 1.sex chromosomes. 2.chromosomes related to autoimmune processes. 3.chromosomes associated with brain and spinal cord development. 4.those chromosomes responsible for aneuploidy. •7. Disjunction refers to a process that occurs during cell 1.apoptosis. 2.meiosis. 3.nullisomy. 4.trisomy. •8. Humans normally have how many chromosomal pairs? 1.8 2.19 3.23 4.46 •9. Trisomy is the 1.loss of one chromosome. 2.loss of two chromosomes. 3.addition of one chromosome. 4.addition of two chromosomes. •10. The development of cancer could be considered a form of 1.nonrandom aneuploidy. 2.random aneuploidy. 3.parsimony. 4.tetrasomy. 1. C; 2. B; 3. B; 4. A; 5. D; 6. C; 7. B; 8. C; 9. C; 10. A

Chapter 11 sections

1. Classic population-based screening criteria include A.the test should be acceptable to the population. B.there should be a recognizable latent or early symptomatic stage of illness. C.facilities for diagnosis and treatment must be made available. D.All of the above 2. In 1934, Dr. Asbjorn Folling developed a test to detect phenylpyruvic acid in the urine (known as pheylketonuria) of infants. A.True B.False 3. The philosophical examination of moral reasoning about what is right or what is what wrong with regards to personnel and societal actions is called A.ethics. B.pride. C.justice. D.collective conscious. 4. A report titled Principles and Practice of Screening for Disease, written by Wilson and Jungner, was commissioned by the A.United States government. B.Department of Health and Human Services. C.WHO. D.Maternal Child Health Bureau (MCHB). 5. During the late 1800s and early 1900s U.S. military employed preventative medicine to halt the spread of infectious disease among troops, while civilians organized Boards of Health to address rampant spread of diseases to maintain healthy populations. A.True B.False Answers: 1. D; 2. B; 3. A; 4. C; 5. A 1. Early treatment of PKU is associated with improved intellectual outcome, and it is rarely diagnosed before 6 months of age without newborn screening. A.True B.False 2. The goals of screening for Congenital Adrenal Hyperplasia include A.preventing a life-threatening adrenal crisis. B.preventing male sex assignment to a virilized female. C.preventing short stature and psychosexual disturbances in both sexes. D.All of the above 3. Biotinidase deficiency is included on the newborn screen because it is a A.potentially tragic illness if not diagnosed. B.condition that has a low-cost treatment. C.rare and untreatable condition. D.Both A and B 4. Hearing loss is more common in infants A.delivered by cesarean section. B.admitted to intensive care units. C.Both A and B D.None of the above 5. Secondary targets should be obtained A.when the infant has his or her first newborn screen blood test. B.in follow-up testing if indicated. C.Both A and B D.None of the above Answers: 1. A; 2. D; 3. D; 4. B; 5. C 1. Justice as it relates to the newborn screen means A.screening of infants is based on socioeconomic groups. B.screening of infants must be undertaken with fairness and equity. C.screening of infants is the result of undue influence or coercion. D.disproportionate screening based on maternal age. 2. As a result of improved screening technologies, scientists can now screen for prenatal alcohol exposure. A.True B.False 3. A teenage mother delivers a sick newborn and the infant is admitted to your unit. Your state requires parental consent before a newborn screen can be obtained. The nurse caring for the sick newborn does not believe that the mother has the capacity to make a decision about the newborn screen for her newborn because she is a teen. The nurse obtains the newborn screen without asking for parental consent. Which ethical principle or concept did the nurse fail to acknowledge in this situation? A.Fidelity B.Surrogacy C.Informed consent D.All of the above 4. Proponents to the retaining of DNA blood samples for the entire population suggest that the scientific and medical benefits of retaining blood samples far outweigh the privacy risk. This viewpoint is an example of which ethics' principle? A.Autonomy B.Non-maleficence C.Self-determination D.Beneficence 5. When the health care provider fails to follow up on an abnormal newborn screen, which ethical principle did he or she fail to follow? A.Negligence B.Abuse C.Misconduct D.Non-maleficence Answers: 1. B; 2. A; 3. D; 4. D; 5. D

Section chapter 23

1. Decreased metabolism of an active drug A.increases the risk for drug toxicity. B.reduces the risk for drug toxicity. C.improves drug efficacy. D.A and C above E.B and C above 2. A poor metabolizer of a pro-drug is at risk for not responding to the medication. A.True. B.False. 3. Drug response of individuals may relate to genetic polymorphisms affecting A.drug transporters. B.metabolizing enzymes. C.drug receptors. D.A and B above E.Any of the above 4. Pharmacogenomics refers to a comprehensive outlook to the interplay of genetics and pharmacology due to A.the use of high-throughput technology processing large amounts of data. B.a focus on the individual rather than the population. C.the ability to identify patterns of drug response and develop algorithms. D.A and C above E.All of the above 5. Industry would utilize PGx in A.new drug development. B.reevaluation of existing drugs. C.drug-labeling specifications. D.A and B above E.All of the above Answers: 1. A; 2. B; 3. E; 4. D; 5. E 1. Genetic testing for warfarin response is done so serial testing of INRs can be avoided. A.True B.False 2. Why would a patient still be at risk for complications with warfarin even when the starting dose and rate of dose increases are adjusted based on the PGx test? A.Warfarin's action can be altered by other medications. B.Warfarin's action can be altered by changes in diet. C.Warfarin's effectiveness and toxicity risk are altered by other genes that were not tested. D.All of the above E.A and B only 3. What is the nurse's best response to a woman who wants to know why the doctor suggested the CYP2D6 test prior to starting her on tamoxifen? A."The test will help the doctor know if estrogen stimulates the growth of your breast cancer." B."The test will help the doctor know if your breast cancer is sensitive to tamoxifen." C."The test will help the doctor decide if tamoxifen or a different medication will be most effective for you." D."The test will help the doctor decide if you should be started on a lower dose of tamoxifen." 4. Concentrations of tamoxifen's active metabolite, endoxifen, can be expected to be lower in A.women who take an antidepressant that is a CYP2D6 inhibitor. B.women who are found by PGx testing to be CYP2D6 ultra-rapid matabolizers. C.women who have hot flashes during therapy. D.women who are CYP2C9 poor metabolizers. 5. PGx tests for tamoxifen and warfarin are A.available in Europe but not the United States. B.recommended by the FDA. C.needed once since genes do not change. D.used in some specialty clinical settings. Answers: 1. B; 2. C; 3. D; 4. A; 5. D 1. The challenges of bioinformatics data resulting from high throughput assays include A.handling large amounts of data as a result of advanced technology. B.dealing with misclassification errors on drug response status. C.spending time on regular checks and ensuring reproducibility of data. D.A and C above E.All of the above 2. PGx testing-related information would improve economic cost effectiveness by which of the following? A.Discovering a low frequency of a particular polymorphism in a disease population B.Ensuring coverage by the Center for Medicare and Medicaid Services C.Decreasing the occurrence of adverse events in susceptible groups D.All of the above E.None of the above 3. Barriers in implementing PGx testing in clinical practice relate to A.whether PGx testing services are available. B.whether enough is known to interpret obtained test results. C.whether practitioners are trained in PGx. D.A and C above E.All of the above 4. Issues that require attention for the immediate refinement of clinical PGx include A.clarification of roles of multiple genes and their interplay. B.whether alternative drugs are present for the nonresponder class. C.the identification of drug-environment interactions. D.A and B above E.All of the above 5. Impediment(s) for PGx testing to become widely utilized screening tests include(s) A.small sample sizes of PGx studies. B.low impact of identified gene on drug-response phenotype. C.low frequency of identified polymorphism in a disease population. D.A and C above E.All of the above Answers: 1. E; 2. C; 3. E; 4. D; 5. E 1. Concepts nurses need to understand to address PGx-related patient care issues include which of the following? (Select all that apply.) A.The gene(s) analyzed in a PGx test may be relevant for more than one medication. B.PGx tests usually analyze specific mutations or polymorphisms that have been associated with variability in drug response. C.The gene(s) analyzed in a PGx test to determine drug response predisposition for a specific medication may NOT be relevant for a different medication. D.There are many different genes that code for many different proteins that influence drug absorption, drug distribution, drug metabolism, and drug elimination. 2. After a medication is selected and dosed based on a PGx test result, the nurse needs to monitor the patient's drug response and consider nongenetic factors that can contribute to drug response variability. A.True B.False 3. Nurses need to assure that their patients have genetic counseling prior to having their sample obtained for PGx testing. A.True B.False 4. Genetic/Genomic Nursing Competencies indicate that nurses should be able to do which of the following? (Select all that apply.) A.Assess a patient's understanding of the PGx test. B.Discuss the reproductive implications of test results. C.Clarify patient misunderstandings about the purpose and limitations of the test. D.Address any concerns the patients/families express regarding the plan for medications after testing. 5. Ancillary information from a PGx test may include A.the type of nutritional supplements expected to interfere with the medication. B.medications that are inhibitors and inducers of the enzyme(s) coded for by the genes analyzed in the PGx test. C.predispositions to health conditions unrelated to medication response. D.A and B only E.All of the above Answers: 1. A, B, C, D; 2. A; 3. B; 4. A, C, D; 5. C

Depressive Disorder

1. Define Mood, Affect and Depression: a. Mood - can also be called affect. Pervasive and sustained emotion that may have a major influence on a person's perception of the world. It is internal as internally feeling inside of you such as feeling a heaviness of your heart due to sadness i. Affect - it is the emotional reaction associated with the experience. It is external as in externally seen by everyone such as looking sad b. Depression - An alteration in mood that is expressed by feelings of sadness, despair and pessimism. There is a loss of interest in usual activities and somatic symptoms may be evident such as having a headache or feeling achy all over. Changes in appetite and sleep patterns (disrupted sleep) are common. 2. What are the general facts associated with Depressive Disorders? a. Higher in women and then men. i. It is a 2 to 1 ratio (2:1) ii. May be due to gender differences in how to perceive depression b. More commonly seen in lower socioeconomic status c. No consistent relationship with race i. Can occur in any race d. Higher in single people than married people i. Married people have each other to comfort whereas single people may not have that person in their life e. Higher in March, April, September, October and November - seasonal f. It is one of the leading causes of disability in the US 3. What are the common symptoms in depressive disorders? a. Anhedonia and decreased energy - not being able to enjoy pleasures and lack of energy - diminished interest or energy b. Sleep Disturbances - too much sleep (hypersomnia) or insomnia (not being able to sleep) c. Appetite Changes - eating too much or too little when not dieting d. Inability to Concentrate - indecisiveness (cannot make a decision about anything, may be indecisive about voluntary commitment to inpatient psych treatment) i. Guilt/ Anxiety - may have guilt about being sick. May be anxious about what other people think of themselves ii. Self- Deprecating Thoughts - feelings of worthlessness e. Psychomotor Changes - may have feelings of restlessness or being slowed down every day. It is observe by others not just subjective f. Nihilism - life has no meaning and recurrent thoughts of death (not fear of death) i. Could have recurrent suicidal thoughts without a specific plan. ii. Could have suicidal thoughts with a plan or attempting to commit suicide 4. What kinds are depressive disorders? a. Major Depressive Disorder (MDD) - characterized by depressed mood or loss of interest or pleasure in usual activities. i. Impaired social and occupational functioning that has existed for at least 2 weeks ii. No history of manic behavior iii. Symptoms that cannot be attributed to use of substances or a genetic conditions b. Persistent Dysthymic Disorder - similar to but milder than MDD i. Been described as their mood as sad or down in the dumps ii. Chronic depressed mood for most days for at least 2 years iii. Early onset - before 21 years of age iv. Late onset - after 21 years of age c. Premenstrual Dysphoric Disorder - seen in females i. Markedly depressed mood ii. Excessive anxiety iii. Mood swings iv. Decreased interest in activities during the week prior to menses, improving shortly after the onset of menstruation and becoming minimal or absent in the week post menses d. Substance induced Depressive Disorder - i. Associated with drugs and medications ii. Direct results of the physiological effects of the substance iii. Clinically significant distress iv. Impairment in social, occupational and other areas of functioning v. Depressed mood is associated with intoxication or withdrawal from substance such as alcohol, amphetamines, cocaine, hallucinogens, opioids and anxiolytics e. Depressive Disorders due to Another medical condition - i. Caused by a direct physiological consequence of another medical condition ii. Causes clinically significant distress or impairment in social, occupational or other areas of functioning iii. Predisposing factors 1) Genetics a) Can see this in families 2) Biochemical influences a) Hypothesized that depressive disorders are due to a deficiency of neurotransmitters: norepinephrine, serotonin and dopamine i) SSRI works by preventing the reuptake of serotonin or rather the destruction of serotonin which allows serotonin to remain free to bind to the receptor sites for continue activation b) Biogenic amines - there is a depletion of the amines in the brain 3) Neuroendocrine Disturbances - a) Hypothalamic Pituitary Adrenocortical Axis - normal system of hormonal inhibition fails so it leads to a hypersecretion of cortisol b) Hypothalamic Pituitary Thyroid Axis - diminished TSH (Thyroid Stimulating Hormones) response to Thyrotropin releasing factor (TRF) causes an increase in depression. Can be observed in laboratory tests by monitoring the TSH levels 4) Physiological Influences a) Medication side effects i) Such as antihypertensive medication like propranolol and reserpine (causes a decrease in the amines in the brain) ii) Acne medication - Accutane (isotretinoin) iii) Steroids iv) Hormones v) Sedatives vi) Antibacterial and antifungal drugs vii) Antineoplastic viii) Analgesics and anti-inflammatory drugs such as ibuprofen ix) Antiulcer b) Neurological disorders i) CVA ii) Brain tumors iii) Alzheimer's disease iv) Parkinson's disease 5. What the psychosocial theories to explain depression? a. Psychoanalytic Theory (Freud) i. Mourning and Melancholia (1917) ii. Observed that melancholia occurs after loss of loved object (either by death or emotionally rejection) or loss of some other abstraction of value to the individual iii. The rage of the patient becomes internally directed due to the identification of the loss object and therefore becoming depressed iv. Predisposed are individuals that experienced ambivalence in low relationships. Once the loss had been incorporated into the self (ego), the hostile part of the ambivalence then turned inward against the ego causing depression v. In short a loss of an object is what causes anger in the patient and then is directed inward toward the self or the ego b. Learning Theory i. Learned Helplessness by Seligman - electroshock experiment with dogs (horrible person) ii. Helplessness existed in humans who experienced numerous failures (real or perceived) and cause the patient to abandons any more attempts to succeed iii. It predisposes individual to depression by imposing a feeling of lack of control over their life situation. They learned that whatever they do is futile c. Object Loss Theory i. Anaclitic depression by Rene Spitz ii. Due to having been abandoned by or otherwise separated from a significant other during the first six months of life such as the infant not being with the mother. Mother represent this object to the infant and it is the source of security. d. Cognitive Theory i. Beck and Colleagues ii. Cognitive distortions that result in negatives, defeated attitudes. 1) Negative expectations of the environment 2) Negative expectations of the self 3) Negative expectations of the future iii. Outlook for the future is one of pessimism and hopelessness e. Biological Theories (see under predisposing factors) i. Genetics ii. Biochemical Influences iii. Neuroendocrine Disturbances iv. Physiological Influences 6. What are the developmental implications? a. Children - Though often not diagnosed in childhood. They may exhibit symptoms of depression that may differ from adults i. Up to 3: 1) Feeding problems, tantrums, lack of playfulness and emotional expressiveness, failure to thrive or delays in speech and gross motor development ii. 3 to 5: 1) Accident proneness, phobias, aggressiveness, and excessive self-reproach for minor infractions iii. 6 to 8: 1) Vague physical complaints and aggressive behavior. May cling to parents and avoid new people and challenges. They may lag behind their classmates in social skills and academic competence iv. 9 to 12: 1) Morbid thoughts and excessive worrying. Lack of interest in playing with friends v. Other symptoms can include hyperactivity, delinquency, school problems, psychosomatic complaints (my tummy hurts), sleeping and eating disturbance, social isolation, delusional thinking and suicidal thoughts or actions. b. Adolescence - may be harder to diagnosed because it is perceived as emotional stressors of growing up i. Common symptoms are inappropriately expressed anger, aggressiveness, running away, delinquency, social withdrawal, sexual acting out, substance abuse, restlessness and apathy. Also loss of self-esteem, sleeping and eating disturbances and psychosomatic complaints are common. c. Post-Partum - occurs after the mother gives birth to the baby i. Varies in feeling blue to moderate depression to psychotic depression ii. Symptoms includes tearfulness, despondency, anxiety and subjectively impaired concentration appearing in the early purperium usually within 48 hours of the delivery, peaking at 3 to 5 days and last about 2 weeks. iii. Also include fatigue, irritability, loss of appetite, sleep disturbances and loss of libido, Mother may express a great deal of concern for the inability to care for her baby iv. Women who have a psychotic depression may expressed they want to kill their baby - Andrea Yates d. Senescence - common in elderly i. Society places values on youth, vigor and uninterrupted productivity ii. Nurture feelings of low self-esteem, helplessness and hopelessness iii. Symptoms could include memory loss, confused thinking or apathy - similar to having Alzheimer's Disease 7. Apply the nursing process for depressive disorders a. Assessments i. Assess using rating scales 1) Hamilton Depression rating scale - most widely used 2) Beck Depression inventory - self rating scales 3) Zung Self Rating Depression Scale - self rating scales ii. Levels of Depression 1) Transient a) Affective - sadness, dejection, feeling downhearted, having the blues b) Behavioral - some crying possible c) Cognitive - Some difficulty getting mind off of one's disappointment d) Physiological - feeling tired and listless 2) Mild a) Affective - denial of feelings, anger, anxiety, guilt, helplessness, hopelessness, sadness and despondency b) Behavioral: tearfulness, regression, restlessness, agitation and withdrawal c) Cognitive: preoccupation with the loss, self-blame, ambivalence, blaming others d) Physiological: anorexia or overeating, insomnia or hypersomnia, headache, backache, chest pain, or other symptoms associated with the loss of a significant other 3) Moderate a) Affective: feelings of sadness, dejection, helplessness, powerlessness, hopelessness, gloom and pessimistic outlook, low self-esteem, difficulty experiencing pleasure in activities b) Behavioral: slowed physical movements (i.e. psychomotor retardation) slumped posture, slowed speech, limited verbalizations, possible consisting of ruminations about life's failures or regrets, social isolation with a focus on the self, increased use of substance possible, self-destructive behavior possible, decreased interest in personal hygiene and grooming c) Cognitive: slowed thinking processes, difficulty concentrating and directing attention, obsessive and repetitive thoughts, generally portraying pessimism and negativism, verbalizations and behavior reflecting suicidal ideation d) Physiological: anorexia or overeating, insomnia or hypersomnia, sleep disturbances, amenorrhea, decreased libido, headaches, backaches, chest pain, abdominal pain, low energy level, fatigue and listlessness, feeling best early in the morning and continually worse as the day progresses. This may be related to the diurnal variation in the level of neurotransmitters that affect mood and level of activity 4) Severe a) Affective: feelings of total despair, hopelessness and worthlessness. Intensified symptoms of moderate depression. Can appear devoid of emotional tone b) Behavioral: Psychomotor retardation so severe that physical movement may literally come to a standstill or psychomotor behavior manifested by rapid, agitated, purposeless movements c) Cognitive: prevalent delusional thinking with delusions of persecution and somatic delusions being most commons. Confusion, indecisiveness and an inability to concentrate i) Low energy level and retarded thought processes the individual may be unable to follow through on suicidal ideas but the desire is strong d) Physiological: general slowdown of the entire body, reflected in sluggish digestion, constipation and urinary retention, amenorrhea, impotence, diminished libido, anorexia, weight loss, difficulty falling asleep and awakening very early in the morning. b. Nursing Diagnosis i. Risk for Suicide ii. Complicated Grieving iii. Powerlessness iv. Low Self-esteem v. Spiritual Distress vi. Social Isolation/Impaired Social Interaction vii. Disturbed thought processes viii. Imbalanced nutrition: less than body requirement ix. Insomnia x. Self-care deficit c. Outcome/Planning i. The client: 1) Has experienced no physical harm to self 2) Discusses the loss with staff and family members 3) No longer idealizes or obsesses about the lost entity/concept 4) Set realistic goals for self 5) Is no longer afraid to attempt new activities 6) Is able to identify aspects of self-control over life situation 7) Expresses personal satisfaction and support from spiritual practices 8) Interacts willingly and appropriately with others 9) Is able to maintain reality orientation 10) Is able to concentrate, reason and solve problems 11) Eats a well-balanced diet with snacks to prevent weight loss and maintain nutritional status 12) Sleeps 6 to 8 hours per night and reports feeling well rested 13) Bathes, washes, and comb hair and dresses in clean clothing without assistance d. Interventions/Implementation i. Look on page 397 ii. Create a safe environment for the client. Remove all objects that could give access to and present harm to the client 1) Rationale: client safety is a nursing priority iii. Maintain close observation of the client 1) Rationale: Close observation is necessary to ensure that the client does not harm self in any way iv. Maintain special care in administration of medications - side effects 1) Rationale: prevents saving up to overdose or discarding and not taking v. Make rounds at frequent, irregular intervals especially at night, change of shift or other times 1) Rationale: prevents staff surveillance from becoming predictable. Be aware of the client's location vi. Encourage the client to express honest feelings. Help the client to identify the true source of anger and work on coping skills 1) Depression and suicidal behaviors may be viewed as anger turned inward on the self. If this anger can be verbalized in a nonthreatening environment, the client may eventually be able to resolve these feelings e. Evaluation i. Has self-harm to the individual been avoided? ii. Have suicidal ideations subsided? iii. Has the client discussed the recent loss with staff and family members iv. Is he or she able to verbalize feelings and behaviors associated with each stage of the grieving process and recognize own position in the process? v. Does the client set realistic goals for self? vi. Can the client identify areas of life situation over which he or she has control? vii. Is the client selecting and consuming foods sufficiently high in nutrients and calories to maintain weight and nutritional status? viii. Have somatic complaints subsided? 8. Treatments 1) Individual Psychotherapy i. Focused on client's current interpersonal relations ii. Three phase 1) Phase 1: determine the extent of client's illness 2) Phase 2: treatment of illness to resolve it 3) Phase 3: relationship is terminated once treatment has resolved the illness 2) Group Therapy i. Provide an atmosphere in which the client can discuss and share their issues in their lives. ii. The group provide: 1) feelings of security - client is safe in divulging their personal issues with others 2) sense of perspective - gained a different set of views from other people 3) sense of belongingness - sharing and relating to the similar issues with other people 4) a sense of hope - in that they are not alone 5) enhances support with compliance for medications 3) Cognitive Therapy i. Individual is taught to control thought distortions that are considered to be a factor in the development and maintenance of mood disorders ii. Goal is to obtain symptom relief ASAP, assist the client in identifying dysfunctional patterns of thinking and behaving and to guide the client to evidence and logic that effectively tests the validity of the dysfunctional thinking 4) Family Therapy i. Work with families of the depressed client to resolve symptoms and initiate or restore adaptive family functioning 5) Electroconvulsive Therapy (ECT) i. Induction of grand mal (generalized) seizure through the application of electrical current to the brain. Considered to be treatment only after a trial of therapy with antidepressant medication has been proven ineffective ii. hook electrodes to your head and shock you, it takes years to get to this point because you have to be on 92 different kinds of SSRI treatments and have it fail before being shocked. 45 seconds procedure. Your role as a nurse is to orient the patient and take vital signs and they are back up on the floor within 30 minutes. They are under general anaesathia. iii. Transcranial Magnetic Stimulation - MRI through your brain. You are awake for this and in a chair and insurance doesn't cover this. Its about 50/50 about its usefulness. Most done in private practice. 1) Very short pulses of magnetic energy to stimulate nerve cells in the brain iv. Side effects are memory loss and confusion - is a sign of permanent brain damage? (pg 406) 6) Light Therapy i. we give you a box full of light and you stare at it for X amount of time a day. People do get relief from that sun box ii. Usually for people with seasonal affective disorder (SAD). They have winter "blues" In the winter, there is an increased production of melatonin due to longer darkness hours. iii. Sit and stare (not directly at the light) at the box that is emitting light 9. Psychopharmacology 1) Tricyclics a) Amitriptyline 1) Seen in people with severe sleep disturbances 2) SSRI a) Celexa, Citalopram b) Lexapro, Excitalopram c) Prozac, Fluoxetine d) Paxil, Paroxetine e) Most commonly use to treat depressive disorders 3) MAOIs a) Parnate, Tranylcypromine b) We do not use it. Why? Because of Restriction diet - no aged cheeses or anything with tyramine and They are unsafe. They interact with almost all other medications. We do not use them. c) Hypertensive crisis 4) Heterocyclics a) Wellbutrin, Bupropion b) Remeron, Mitrazapine 5) SNRIs a) Cymbalta, Duloxetine b) Effexor, Venlafaxine 6) Why is there an increased risk of suicides when taking these anti-depressant? a) Antidepressant takes about four weeks to take effect. Usually hospitalized for seven days for depression. It is working just enough to have the energy to kill themselves. People who are depressed do not have the energy to do it. Around two to four weeks mark they are feeling just good enough that they are going to still have active suicidal thoughts and now they have the energy to do it. We do patient teaching education about the suicide risks especially in adolescence because the suicide risk is so high 10. Side effects 1) Dry Mouth - most common side effect a) Offer the client sugarless candy, ice and frequent sips of water b) Strict oral hygiene is important 2) Sedation a) Request an order from the physician for the medication to be administered at bed time b) Request that the physician decrease the dosage or perhaps order a less sedating drug c) Instruct the client not to drive or use dangerous equipment while experiencing sedation 3) Nausea a) Medication may be taken with food to minimize GI distress 4) Discontinuation Syndrome a) Abrupt withdrawal may results in dizziness, lethargy, headache and nausea b) All drugs should be tapered gradually to prevent withdrawal symptoms 5) Hypersomnia/Insomnia a) Insomnia: 1) Administer or instruct client to take dose early in the day 2) Instruct client to avoid caffeinated food and drinks 3) Teach relaxation techniques 6) Urinary Retention a) Instruct your client to report any hesitancy or inability to urinate b) Monitor I/O 7) Serotonin Syndrome a) Occurs when taking a SSRI or SNRI and then take another drugs that increase more serotonin leading to a change in mental status, restlessness and tachycardia. If this occurs, remove the drug that increase the serotonin not the SSRI or SNRI. Once the drug has been removed, the condition will resolve on its own b) Nursing measures: 1) Monitoring vital signs 2) Providing safety measures to prevent injury 3) Observe for changes in mental status 4) Cooling blankets and tepid baths to assist with temperature regulation 5) Monitor I/O c) if on SSRI or SNRI and we are adjusting the amount of serotonin in your body and you throw out your back and go to the family doctor and they give your tramadol for your back pain and you will have this horrible condition. It is medication interaction and it causes your serotonin in your body to spike so bad that you can appear psychotic and you can have seizure and it is very hard to fix. We stop the conflicting medications but we don't stop antidepressant and fill you with fluids and hope you do okay. Someone still have to recognize what it is.

Chapter 15

1. Stress can alter the functioning of the immune system prenatally as well as after birth. A.True B.False 2. Neuropeptides are all of the following EXCEPT A.short chains of amino acids. B.neurotransmitters. C.modulators of synaptic activity. D.proteins with quaternary structures. 3. All of the following can strengthen the immune system EXCEPT A.music. B.laughter. C.pain. D.writing. 4. Genes and the environment are separate entities. A.A. True B.B. False 5. Social genomics will provide insight into how early life conditions relate to health and behavior. A.True B.False Answers: 1. A; 2. D; 3. C; 4. B; 5. A 1. A pathogen is an antigen. A.True B.False 2. Immediately following a break in the skin, phagocytes engulf bacteria within the wound. This is an example of an immune response, which is against a pathogen. A.adaptive; specific B.innate; specific C.innate; nonspecific D.adaptive; nonspecific 3. An synonym for an antigenic determinant is A.immunogen. B.epitope. C.binding site. D.polysaccharide. 4. Antigenic substances can be composed of A.large polysaccharides. B.proteins. C.glycoproteins. D.All of the above 5. The immunogenicity of an antigen depends greatly on A.its biochemical composition. B.being structurally unstable. C.its degree of foreignness. D.having low molecular weights. Answers: 1. A; 2. C; 3. B; 4. D; 5. C. 1. A function of the cell-mediated immune response NOT associated with humoral immunity is A.defense against viral and bacterial infection. B.initiation of rejection of foreign tissues and tumors. C.defense against fungal and bacterial infection. D.antibody production. 2. The primary or central lymphoid organs in humans are the A.bursa of Fabricius and thymus. B.lymph nodes and thymus. C.bone marrow and thymus. D.lymph nodes and spleen. 3. All of the following are a function of T cells EXCEPT A.mediation of delayed-hypersensitivity reactions. B.mediation of cytolytic reactions. C.regulation of the immune response. D.synthesis of antibody. 4. The major clinical manifestation of a B-cell deficiency is A.impaired phagocytosis. B.diminished complement levels. C.increased susceptibility to bacterial infections. D.increased susceptibility to parasitic infections. 5. Most diseases associated with a primary defect are disorders. A.T-cell B.B-cell C.complement D.phagocytic Answers: 1. B; 2. C; 3. D; 4. C; 5. B 1. Which of the following contributes to the genetic diversity of immunoglobulins? A.Heavy and light chains B.Multiple germline genes C.Constant and variable regions D.All of the above 2. The greatest genetic diversity of antibodies is achieved by which mechanism? A.Somatic recombination B.Multiple combinations of heavy and light chains C.Somatic hypermutation D.Junctional diversity 3. Which of the following cells carry activated immunoglobulins? A.T lymphocytes B.B lymphocytes C.Plasma cells D.Dendrite cells 4. Which of the following is a signaling protein? A.Plasma cells B.Immunoglobulin C.T lymphocytes D.Cytokine 5. The chemical composition of an antibody is A.protein. B.lipid. C.carbohydrate. D.glycoprotein. Answers: 1. D; 2. C; 3. C; 4. D; 5. D. 1. Autoimmune diseases have a complex genetic basis. A.True B.False 2. Which of the following describes the essential cause of autoimmunity? A.Too many antigenic determinants B.Lack of antibody formation C.Breakdown in self-tolerance D.Lack of macrophages 3. Which of the following provides the most information for genetic disease research? A.Study of individual candidate gene history B.Study of linkages in multiple families C.Reviewing medical genetic research D.Performing GWA scans for SNPs 4. HIV is a primary immunodeficiency disease. A.True B.False 5. Which of the following are typically autoimmune diseases? 1.1. Lupus 2. 3. Type 1 diabetes 3.Graves' disease 4.Rheumatoid arthritis A.1, 2, 4 B.3, 2, 4 C.1, 3, 4 D.1, 2, 3, 4 Answers: 1. A; 2. C; 3. D; 4. B; 5. D

Chapter 16 sections

1. Which of the following best describes the cause(s) of cancer? A.A critical gene mutation B.The accumulation of DNA mutations as well as changes in epigenetic processes C.An inherited genetic condition D.A complex, multistep process 2. Which of the following is NOT a hallmark capability of cancer according to Hanahan and Weinstein (2011)? A.Ability to sustain chronic proliferation B.Ability to evade growth suppressors C.Ability to generate germ line mutations D.Ability to resist cell death E.Ability to activate invasion and metastasis 3. The Two-Hit Hypothesis of cancer development that was described in the 1970s by Dr. Alfred Knudson is no longer relevant. A.True B.False 4. Which of the following best describes a proto oncogene? A.A subset of tumor suppressor genes B.A gene that, when mutated, can become an oncogene C.A gene with a point mutation that is common in many cancers D. A gene that makes proteins that inhibit normal cell division E.A major cause of chronic myelogenous leukemia 5. The majority of cancers occur randomly and in somatic cells. A.True B.False 6. Which of the following best describes why viruses like Epstein Barr and hepatitis B can contribute to cancer development? A.A. Infection with these viruses leads to clonal expansion of infected cells with loss of normal function. B.B. Infection with these viruses can activate invasion and metastasis. C.C. Viral DNA are inserted into cellular DNA during replication. 7. Which of the following has NOT been described as an effect of epigenetics? A.A. Epigenetics has the ability to chemically program cellular behavior. B.B. Epigenetic changes in tumor cells are potentially reversible. C.C. Epigenetic functions are heritable. D.D. Epigenetics can turn a particular gene on as well as off. E.E. Cancer drugs do not influence epigenetic function. Answers: 1. B; 2. C; 3. B; 4. B; 5. A; 6. C; 7. E 1. The development of drugs that target angiogenesis are a promising new model for treating cancer. A.True B.False 2. How will an improved understanding of the molecular genetics of a particular type of cancer contribute to personalized medicine? A.Treatment can be targeted to the particular gene, gene product, or molecular pathway that triggers a cancer. B.The genetic signature of a cancer can be used to predict prognosis. C.Biomarkers can monitor the effect(s) of cancer treatment. D.All of the above 3. Your patient has elected to pursue online direct-to-consumer genetic testing for breast cancer. Which of the following would you want to make her aware of? A.The reliability, validity, and interpretation of online gene test results have been questioned. B.Online gene test results are highly reliable and valid. 4. The number of molecular tests and biomarkers in clinical use is small and most commonly used for cancer. A.True B.False Answers: 1. A; 2. D; 3. A; 4. A 1. Mutations in which of the following autosomal dominant genes are commonly associated with breast cancer in men? A.BRCA1 B.BRCA2 2. The presence of more than 100 adenomatous polyps in the colon is pathoneumonic for familial adenomatous polyposis (FAP). A.True B.False 3. MLH1, MSH2, MSH6, and PMS2 are known as mismatch repair genes. This is a subclassification of which of the following? A.Tumor suppressor genes B.Oncogenes C.None of the above 4. Risk assessment and long-term surveillance and screening guidelines have been published for most cancers. A.True B.False Answers: 1. B; 2. A; 3. A; 4. B 1. Nurses must understand cancer genetics because A.they make up the largest number of direct care providers. B.there are insufficient genetic experts to translate cancer genetic information to patients and the public. C.they are the case finders for cancer predisposition. D.All of the above 2.A pedigree is a standardized pictorial representation of family data collected during a health history. A.True B.False 3. Red flags that suggest inherited predisposition for cancer include all of the following EXCEPT A.multifocal or bilateral disease. B.early age of cancer onset, typically before age 50 years. C.multiple affected family members. D.evidence for rapid metastasis among multiple individuals with cancer. E.occurrence of similar cancers across multiple generations. 4. Certification in oncology nursing as well as genetic nursing is possible. A.True B.False 5. Cancer treatment is evolving and new drugs are being developed to target very specific gene functions and/or cancer development pathways. Which of the following skills or competencies is most important for a nurse to possess? A.History taking and physical assessment skills B.Initiation and participation in system processes that enable continuous monitoring for and recording of adverse events C.Collaboration with other providers to develop patient care guidelines for the management and prevention of unanticipated events D.Patient education about the drug effects, interactions, and the need to report unexpected drug effects E.All of the above Answers: 1. D; 2. A; 3. D; 4. A; 5. E

Malformation

A structural defect of an organ or larger body region. It can result from abnormal embryonic development such as a chromosomal abnormality of the gamete at fertilization. For example: Ectrodactyly - Grady Stiles also known as Lobster Boy (a circus performer) had this malformation

Critical thinking

Adrian is a 26-year-old Caucasian woman who is admitted to your unit for surgical care following a mastectomy for Stage II breast cancer. She tells you she is very scared because her paternal grandmother, paternal aunt, and her father have all had breast cancer. 1.What red flags tell you that there is a need to collect a comprehensive three-generation family history? 2.What can you tell her about the relationship between breast cancer and genetics that might be relevant in her case? 3.Given the brief information in this case, what gene mutation might be common in her family? Why do you say this? 4.Is a genetic counseling referral relevant in this case? Why? CRITICAL THINKING CHECKPOINT ANSWERS 1.Adrian developed breast cancer at a very young age. Early age of cancer onset is a red flag suggesting genetic predisposition to breast cancer. In addition, breast cancer is not common in men. When discovered, it is more likely to be associated with a heritable gene mutation. This history suggests there are at least three individuals in the paternal line that have received a breast cancer diagnosis. Multiple primary breast cancers in a maternal or paternal line are a red flag suggesting the need to develop a comprehensive pedigree. It will be also important to assess whether the cancer cases in this three-generation family history reveal bilateral disease. Bilateral disease is a common cancer risk red flag. 2.About 10%-15% of all breast cancers can be associated with a gene mutation. Cancer is the result of a complex interplay between inherited genetic predisposition and environmental and lifestyle exposures. In addition, scientists recently have found that breast tumors that showed mutations in BRCA2 conferred a survival advantage over disease due to other types of breast cancer associated gene mutations. 3.Breast cancer is not common in men. However, in such instances, a nurse should be alert to the possibility of a BRCA2 mutation. The BRCA2 gene is an autosomal dominant mutation that can confer an increased risk for biologic descendants. Each child would have a 50/50 chance of inheriting this gene mutation. 4.There are many benefits to referral for genetic counseling, as discussed in the following: ◾Adrian would have the opportunity for a professional consultation with a geneticist and/or a genetic counselor who could help her to decide on the value of personal genetic testing, as well as discuss the implications of such testing for treatment decisions and possible privacy or insurance discrimination. ◾Other at-risk family members can be identified and genetic counselors could help Adrian strategize ways to share this information with them. These individuals could be offered cancer surveillance options that might include earlier age for specific screening tests and more frequent screening intervals. ◾Adrian would also have the opportunity to discuss the relevance of other breast cancer risk-reduction measures (e.g., prophylactic removal of the other breast or ovaries after child bearing is complete). ◾Gene testing and counseling can provide guidance with new gene-specific treatment options and risk reduction measures as they emerge.

Studies

Candidate Gene Studies A specific genetic variation is looked for in a group of cases and a group of control subjects.

Critical thinking

CL, a 40-year-old Caucasian female, has been experiencing episodes of fatigue and excessive sleepiness at the end of the day, especially after dinner. She states, "I can barely stay awake to get the kids to bed." She loves her job as a programmer because she can sometimes telecommute from home if she needs to stay home with a sick child. She is 5'4" tall, weighs 120 pounds, and routinely jogs three miles every day in the morning before breakfast. She adds to this information that she has also been extremely hungry and thirsty after her run, which is unusual because "running usually curbs my appetite." When questioned about her health recently, she remembers that she did have a 24-hour bug about a month ago that "knocked me off my feet. I had a high fever and everything!" She adds that it was at a particularly stressful time because she had a deadline for a work project. She then remembers that this fatigue in the evening started after that episode. She has a family history of maternal late-onset diabetes, but that "was because my mother was fat and I vowed I'd never let myself get that bad." 1.What are the significant points in CL's history that could indicate a problem? 2.What lab tests would you want to run immediately? 3.What other questions could provide important information? 4.What would you advise her to do for follow-up? CRITICAL THINKING CHECKPOINT ANSWERS 1.The significant points regarding CL's history is the fact her fatigue began after the viral syndrome with a high fever; she is a runner who now gets hungry and thirsty after a run; she is especially fatigued at night after dinner; she has a family history of non-insulin-dependent diabetes mellitus. 2.Lab tests that could be of value at this moment would be a blood sugar, hemoglobin A1C, and urine dipstick because generally all three tests could be done in an office setting. 3.Additional questions to ask would include questions about nocturia, thirst, and weight loss. 4.Suggestions for follow-up would include referral to a diabetes counselor for diet changes and to monitor her blood glucose before and after every meal. If her blood sugars are high after meals, she may need a medication by mouth initially and possibly later insulin. Explain to her that this seems to be a case of autoimmune diabetes. The fact that she had the virus with a high fever and was under stress simultaneously indicates that her body may be attacking itself secondary to the release of stimulators during the fever. Moreover, since it is an autoimmune disease, she could be at risk for other tissue attacks, i.e., thyroid problems. It is important for her to continue her exercise regimen because this improves her circulation and relieves stress.

Critical thinking chapter 7

Case 1 Carol is a second child of Donald and Pam Green. Carol's older brother George is now 3 years of age and without any health problems. Carol however is a different matter. Her parents have been concerned from birth. She had a delayed meconium stool at birth. She was also very slow to gain weight and had frequent respiratory infections and cough the first few months of life. The pediatrician at first thought this was due to George being in daycare and developing frequent upper respiratory infections. At 6 months of age Carol was admitted to the hospital with respiratory distress and pneumonia. She had never doubled her birth weight despite adequate fluid intake and she was below the 5% in height and weight on the growth chart. Her bowel movements were also bulky and foul smelling. The physicians suspected cystic fibrosis and ordered a sweat test. The result was Na+ level 85 mmol/l, which is reflective of CF. The diagnosis was a shocking revelation to the family. The family requested to speak to a geneticist for guidance. Like most cases of CF, the clinical history and physical exam along with positive sweat test made the diagnosis secure. CF is an autosomal recessive disorder and caused by a mutation on chromosome 7 with the CFTR gene. 1. What further data should the nurse gather from Donald and Pam before referring the family to a genetic specialist? 2. What are the signs and symptoms of CF? The prognosis? Is it linked to any ethnic group? 3. Donald and Pam ask the nurse how CF can be genetic if no one in their family ever had the disorder. What is the correct response? 4. Donald and Pam ask if other family members should know and be tested. What is the nurse's advice? What type of genetic testing should the nurse suggest? 5. The family have inquires about new genetic treatments for CF. Search websites and other literature to learn more about CF and new genetic treatments or research. Case 2 Ellen and Allen wanted to have children right after they were married. The couple was of Jamaican descent. Ellen became pregnant quickly but suffered a miscarriage at 10 weeks. The next pregnancy was 6 months later but the ultrasound scan at 30 weeks showed the baby was very small. The couple was not concerned since they were both of short stature and petite. However, when their daughter Helen was born at 37 weeks gestation, the couple knew something was troublesome. The neonate's length, head circumference, and weight were well below the third percentile. On physical exam, the infant also had a heart murmur and dysmorphic facial features. The child was diagnosed with complex heart defect and critical aortic stenosis and was referred for a genetic evaluation. The nurse inquired further into the family history and discovered that Ellen's sister also had several miscarriages. Her aunt also had a child who died from a heart problem and stillbirth before she had a healthy child. 1. Based on the history, what kind of Mendelian disorder could this suggest? 2. What type of genetic testing would be part of the genetic evaluation? 3. What type of response or emotions might the family experience after a birth of a child with malformations and suspected hereditary genetic disorder? How can the nurse provide support for this family situation? Case 3 Matt is the first son of June and Ryan. They have one daughter named Kyra. Kyra was quick with her developmental milestones and walked at 9 months of age. Matt seems slower in achieving his fine and gross motor developmental milestones compared to his sister. June associated it with being a boy. June took Matt to see the nurse practitioner during his 24-month-old visit. When comprising a history, June said that Matt did not walk until he was 20 months old. On observation, the nurse practitioner noted the toddler was clumsy, had enlarged calves, and when he got up from the floor, he rolled onto his hands and knees, using the chair to support some of his weight; and then he braced his arms against his legs (Gower's sign). Both the nurse practitioner and June were concerned about Matt's development. With further probing into the family history, the nurse learned June's uncle had died during his teenage years with DMD. The nurse practitioner referred Matt to a neurologist and geneticist. 1. What clues in this scenario suggest Matt has DMD? 2. What type of inheritance pattern is DMD? What type of diagnostic testing confirms the disorder? Case 4 Fred is 18-year-old high school student who is graduating and plans to attend college at the University of the Arts. He enjoys painting, sculpting, and going out with his friends. He admits to drinking alcohol at parties on the weekend. He always had good eyesight but within the last week he has noticed that his vision was blurred and the colors of the paints paler than usual. These symptoms cause his mother to bring him to see the nurse practitioner at the family health center. The nurse practitioner performed a complete history and physical exam. The family history is significant. His mother, Francis, is a healthy woman, but her brother has been blind since age of 27 years of age with optic atrophy. His mother's sister, Doris, also has serious visual problems, which first occurred when she was 45 years of age, and heart rhythm problems. Based on the presentation and history the nurse practitioner sent Fred to the eye hospital for ophthalmologist referral. At the hospital, the nurse read the report and found disk swelling (pseudoedema of the nerve fiber layer) and increased tortuosity of the retinal vessels. This combined with the history represents Leber hereditary optic neuropathy (Donnai & Reed, 2007). The ophthalmologist referred Fred to a geneticist due to his family history and clinical exam. Gradually over the next several months he has lost his vision, unable to paint and refocus his career. 1. What type of inheritance is Leber hereditary optic neuropathy? Will Fred's children be affected with the disorder? 2. What clues in history and physical exam suggest a hereditary disorder? 3. What would be an essential nursing intervention for Fred and his family? CRITICAL THINKING CHECKPOINT ANSWERS Case 1 1.Further data should include health history, which includes family history of genetic disorders; perinatal history; changes in developmental status; and history of present illness and treatments. 2.Signs and symptoms of Cystic fibrosis (CF) are seen in the newborn period or at least before 2 years of age with meconium ileus, failure to thrive, and/or frequent respiratory infections. Recurrent infections eventually leads to fibrotic change in the lungs with secondary pulmonary hypertension or cor pulmonale. The characteristic signs and symptoms of cystic fibrosis are recurrent episodes of pneumonia, constipation, weight loss, pale, foul-smelling stools, and diabetes. Infertility is also an issue with both sexes with congenital bilateral absence of vas deferens, and thick secretions of cervix and fallopian tubes. CF is a common autosomal recessive disorder in those with western European ancestry, less common in African-Americans and Asian-Americans. 3.It is autosomal recessive and skips generations; parents and perhaps other family members are carriers. 4.Yes. In most cases of CF, clinical symptoms and an abnormal sweat test confirm the diagnosis. Molecular testing to validate the mutations in the CFTR gene on chromosome 7 is desired to advise relatives regarding their carrier status, as well as prenatal testing or atypical cases. 5.Some sites on gene therapy for CF include: • http://www.cfgenetherapy.org.uk/ • http://www.genome.gov • http://www.sickkids.ca/Centres/Cystic-Fibrosis-Centre/ Case 2 1.The history of miscarriages, still births, and infants with congenital malformations in several generations might suggest autosomal dominant condition with reduced penetrance of balance chromosomal structural abnormality (Read & Donnai, 2007). 2.Chromosomal analysis on parents and child. 3.The parents respond with emotions of loss and grief, including shock, anxiety, denial, anger, and confusion. The nurse should be a patient advocate. The nurse needs to keep the family informed about possible findings, information regarding genetic tests, and consultations being arranged. In addition, encourage parent's involvement in the plan of care. The nurse should also identify support systems for the family and community recourses available. Case 3 1.Clues for DMD are being clumsy and slow to walk; Gower's sign (standing with support and bracing arms against legs because the proximal leg muscles are weak); enlarged calves (pseudohypertrophy); and positive family history (uncle with DMD). 2.X-linked recessive. 3.Muscle biopsy for an absence of dystrophin, DNA genetic testing for the mutation, tests to check whether creatine kinase levels are increased, and an EMG (not neurotransmitter problem). Case 4 1.Mitochondrial inheritance (maternal mitochondria). Mitochondrial inheritance occurs through maternal lines. Fred will not pass his mtDNA to his children. 2.The nature of the eye problem: rapid progression in the affected males in comparison to the late onset and heart problems in Fred's aunt. 3.Fred is probably in shock or denial. His life goals are altered and there are major changes in his life. The nurse provides an essential role in providing emotional support and referral to appropriate agencies and support groups.

DAOA protein

D-amino acid oxidase activator (DAOA): appears to degrade an activator of glutamate receptors. Several studies have shown that polymorphisms of the gene increase susceptibility to BPD and Schizophrenia.

Genomic imprinting

Epigenetic Genes inherited from the mother or father can result in diverse clinical distinctions. Example: Prader-Willi Syndrome, Angelman Syndrome Both are due to a deletion on chromosome 15.

Question

Genetic testing for Bipolar Disorder is: A. 9% effective. B. 40% effective. C. requires two allelic variations to be present. D. ineffective. Answer is D

Environmental Factors (Epigenetics)

Infectious Agents - Toxoplasmosis - do not clean litter boxes!!! Herpes, Syphilis Drugs/Medication - a drug that used to treat morning sickness in England in the 1960s cause birth defect in children with limbs Alcohol - Fetal Alcohol Syndrome Tobacco - Low Birth Weight Ionizing Radiation Illicit Drugs - NAS (Neonatal Absence Syndrome) Maternal Disease - unmanaged diabetes Heavy Metals - lead, fish (high level of mercury) BPA (Bisphenol-A) - think of fat mouse all water bottles say BPA free Obesity

Disruption

Interruption of a normal developmental process. This cannot be inherited.

Barriers

Lack of knowledge Desire to keep health history private Providers have limited time History may not be well maintained or updated Providers may have limited knowledge of genetics

The Pedigree

Made up of lines that connect shapes The patient is the proband Circles are female and Squares are male Diamonds represent individuals of unspecified sex (can be used for transgender) The symbol is shaded is the individual is affected by a trait Maternal side is on the right and paternal on the left Roman numerals indicate generations

Cancer Progression

Metastasis Suppressor Genes (MSG): normal function is to suppress processes or pathways to promote metastasis. Example: Upregulation of MTDH (metastasis gene metadherin) promotes chemo-resistance and metastasis in 30-40% of breast CA.

MAO-A gene

Monoamine Oxidase A (MAOA)- catabolizing enzyme that targets serotonin Dysregulation of expression of this gene can lead to aggression and emotional lability.

Genetics

Originated from a Greek term referring to the scientific branch of biology focused on genes and heredity. In the mid 1800s Mendel popularized inheritance pattern theory through scientific experiments. Using peas plant 1953: Watson and Crick described the structure of the DNA molecule (deoxyribonucleic acid). In 2003 the entire human genome had been sequenced. Human Genome Project The 21st century will be known for genomic health care.

Post test chapter 8

POSTTEST Answers: 1. B; 2. B; 3. C; 4. C; 5. A; 6. A; 7. C (actual answer is B); 8. B; 9. D; 10. D •1. During which phase of the menstrual cycle does the endometrium thicken in preparation for ovulation and fertilization? 1.Menstrual 2.Proliferative 3.Secretory 4.Ischemic •2. A couple who wants to use natural family planning to try to conceive needs to know that the ovum is considered fertile for . 1.8 hours 2.24 hours 3.2-3 days 4.1 week •3. In order for fertilization to occur, what part of the sperm must penetrate the egg? 1.Entire sperm 2.Tail 3.Head 4.Both head and tail •4. The pre-embryonic stage occurs during 1.week 3-8. 2.the week of the last monthly period (LMP). 3.the first 14 days following conception. 4.the first 4 days after fertilization. •5. The hormone primarily responsible for maintaining the pregnancy is 1.progesterone. 2.human chorionic gonadotropins (hCG). 3.human placental lactogen (hPL). 4.gonadotropins releasing hormone (GnRH). •6. A baby is born with a congenital heart defect. At what point would this anomaly occur? 1.Between the third and fifth week of development. 2.In the first 2 weeks of development. 3.During the eighth week of development. 4.14 days after fertilization. •7. Based on Nagele's rule, if the last monthly period (LMP) was 5/7/12, the expected date of birth would be 1.December 30, 2012. 2.February 14, 2013. 3.June 1, 2013. 4.August 23, 2013. •8. At what time in embryonic development do the male and female genital organs begin to differentiate? 1.Week 4 2.Week 8 3.Week 12 4.Week 18 •9. A woman with a family history of twins has a high chance of having 1.identical twins. 2.monozygotic twins. 3.triplets. 4.dizygotic twins. •10. If studies in animals or pregnant women demonstrate evidence of fetal abnormality or risk, or if the potential for fetal risk clearly outweighs any possible benefit of the drug, the Food and Drug Administration (FDA) category for this drug is 1.B. 2.C. 3.D. 4.X.

Bipolar Disorder

Please review symptomatology of Bipolar Disorder at your convenience. Linkage & Association Studies (review the notes from NUR 316?) Study Guide for Bipolar Disorders and Related (Chapter 17 of mental health book): 1. Definitions a. Bipolar disorder i. Mood disorders that are manifested by cycles of mania and depression b. Mania i. An alteration in mood that is expressed by feelings of elation, inflated self-esteem, grandiosity, hyperactivity, agitation and accelerated thinking and speaking. Appearing psychotic and having a psychosis. 2. What are the general facts? a. Affects 5.7 million American Adults b. Onset is in the age of early 20s c. Affects men and women similarly d. More common in unmarried than married persons e. Occurs more frequently in higher socioeconomic classes f. 6th leading cause of disability in the middle age group 3. What are the bipolar disorders? a. Bipolar I - cycles of mania and major depressive disorder b. Bipolar II - hypomania and major depressive disorder i. Hypomania - not severe enough to cause marked impairment in social or occupational functioning or to require hospitalization and it does not include psychotic features c. Cyclothymic disorder - elevated mood that does not meet the criteria of hypomania and numerous periods of depressive mood of insufficient severity to meet the criteria of major depressive disorder i. Chronic mood disturbance at least 2 years duration d. Substance induced bipolar disorder i. Directed result of physiological effects of a substance ii. Commonly associated with bath salts iii. Associated with intoxication such as alcohol and opioids and withdrawal from substances such as alcohol and sedatives e. Bipolar disorder due to another medical condition i. Characterized by an abnormally and persistently elevated, expansive or irritable mood and excessive activity or energy that is judged to be the result of direct physiological consequence of another medical condition ii. Predisposing factors 1) Genetics a) Strongly reflects an underlying genetic vulnerability b) If mom has it, chances are her children will have it too 2) Biochemical influences a) Biogenic amines i) Symptoms of depression associated with functional deficiency of norepinephrine and dopamine and mania with a functional excess of these amines One. Later expanded to acetylcholine ii) Hypothesized that these excess cells (amine releasing cells in the brain) result in the altered brain chemistry that is associated with the symptoms of bipolar disorder iii) Another theory is that there is an imbalance between the biogenic amines and acetylcholine. Cholinergic transmission is thought to be excessive in depression and inadequate in mania 3) Physiological influences a) Neuroanatomical factors i) Right sided lesions in the limbic system, temporobasal areas, basal ganglia and thalamus have been shown to induce secondary mania ii) Enlarged third ventricles and subcortical white matter and periventricular hyperintensities in MRI studies b) Medication side effects i) Certain medications to treat somatic illness can trigger a manic episode such as steroids for treatment SLE and MS ii) Also in amphetamines, antidepressants and high dose of anticonvulsants and narcotics can initiate a manic episode f. Schizoaffective disorder i. A mood disorder not a psychotic disorder ii. Positive symptoms of schizophrenia (hallucinations and delusions) PLUS a major mood disorder. - involves psychosis 1) Schizoaffective disorder- depressed type 2) Schizoaffective disorder- bipolar type 4. What are the symptoms? a. Depression and Mania (Bipolar I) i. Symptoms last >1week ii. Inflated self esteem iii. Grandiosity iv. Decreased need for sleep v. More talkative than usual vi. Flight of Ideas vii. Distractibility viii. Increased goal directed activity ix. Excessive involvement in activities with the potential for painful consequences x. Marked impairment in social or occupational functioning xi. May have psychotic features xii. Can't kill themselves and cant care for themselves. Bipolar II, they may be able to function. People like to be manic because it is a good feeling. It is really hard to bring them down due to the great feeling they are feeling in the moment b. Depression and Hypomania (Bipolar II) i. Symptoms last >4days ii. Inflated self esteem iii. Grandiosity iv. Decreased need for sleep v. More talkative than usual vi. Racing Thoughts vii. Distractibility viii. Increased goal directed activity ix. Excessive involvement in pleasurable activities that have a high potential for painful consequences x. There is a change in functioning observable by others xi. Not severe enough to cause marked impairment in functioning 5. Psychosocial Theories a. Viewed as diseases of the brain with biological etiologies b. No psychosocial theories 6. Developmental Considerations a. Childhood and Adolescence i. Symptoms of bipolar disorder are often difficult to assess in children and they may present with a comorbid conduct disorders or ADHD ii. FIND strategy 1) Frequency, Intensity, Number, Duration a) Symptoms most occur is most days of the week (Frequency) b) Symptoms must cause an extreme disturbance in functioning (intensity) c) The symptoms must occur three to four times a day (number) d) Symptoms must occur four or more hours a day (duration) Ii. Extremely reliance on family history such as grandpa or father has it therefore you will most likely to have it. Iii. Monotherapy (mood stabilizers or second generation atypicals) - using mood stabilizers or one second generation atypical medication. You need to have the family to understand what is going on - Compliance Iv. Family Intervention - family focused psychoeducation treatment (FFT) is a effective method of reducing relapses and increasing medication adherence in bipolar clients. Includes psychoeducation about bipolar disorder, communication training and problem-solving skills training b. Symptoms i. Euphoric/expansive mood ii. Irritable mood iii. Grandiosity iv. Decreased need for sleep v. Pressured speech (rapid speech) vi. Racing thoughts vii. Distractibility viii. Increase in goal directed activity/psychomotor agitation ix. Excessive involvement in pleasurable or risky activities x. Psychosis xi. Suicidality 7. Apply the nursing process a. Assessment i. Stage I: Hypomania - very cheerful, mood is expansive and ideas of great worth and ability. Increase motor activity. 1) Not severe enough to cause an impairment in functioning ii. Stage II: Acute Mania - feeling of euphoria and psychosis. Continuous high. Fragmented and psychotic. Rapid thinking! Psychomotor activity is excessive. 1) Intensification of experience in hypomania iii. Stage III: Delirious Mania - we have the medication to fix it. Increase symptoms from acute mania and complete lack of consciousness meaning that you have no idea of what is going on around you. 1) Characterized by severe clouding of consciousness and an intensification of symptoms associated with acute mania 2) Feeling labile (likely or apt to change, changing state) such as going from feelings of despair quickly converting to ecstasy 3) Clouding of consciousness with accompanying confusion, disorientation and sometimes stupor. Psychomotor activity is frenzied and characterized by agitated, purposeless movements. Safety is at stake! b. Nursing Diagnosis i. Risk for Injury ii. Risk for Violence iii. Impaired Social Interaction iv. Insomnia c. Outcome/Planning i. The client will 1) Exhibits no evidence of physical injury 2) Has not harmed self or others 3) Is no longer exhibiting signs of physical agitation 4) Eats a well-balanced diet with snacks to prevent weight loss and maintain nutritional status 5) Verbalizes an accurate interpretation of the environment 6) Verbalizes that hallucinatory activity has ceased and demonstrates no outward behavior indicating hallucinations 7) Accepts responsibility for own behaviors 8) Does not manipulate others for gratification of own needs 9) Interacts appropriately with others 10) Is able to fall asleep within 30 minutes of retiring 11) Is able to sleep 6 to 8 hours per night d. Interventions/Implementation i. Remove hazardous objects and substances (including smoking materials) 1) Rationales: rationality is impaired and client may harm self inadvertently ii. Maintain low level of stimuli in client's environment (low lighting, few people, simple décor, low noise level) 1) Rationale: minimize anxiety, agitation and suspiciousness iii. Provide a high protein, high calorie nutritious finger foods and drinks that can be consumed on the run 1) Rationale: client has difficulty sitting still long enough to eat a meal. The likelihood is greater that he or she will consume food and drinks that can be carried around and eaten with little effort iv. Do not argue, bargain or try to reason with the client. Merely state the limits and expectations. Confront the client as soon as possible when interactions with others are manipulative or exploitative. Follow through with established consequences for unacceptable behavior 1) Because of the strong id influence on client's behavior, he or she should receive immediate feedback when behavior is unacceptable. Consistency in enforcing the consequences is essential if positive outcomes are to be achieved. Inconsistency creates confusion and encourages testing of limits e. Evaluation i. Has the individual avoided personal injury? ii. Has agitation subsided? iii. Have nutritional status and weight been stabilized? Is the client able to select foods to maintain adequate nutrition? iv. Is the client able to sleep 6 to 8 hours per night and awaken feeling rested? v. Does the client understand the importance of maintenance medication therapy? Does he or she understand that symptoms may return if medication is discontinued? 8. Treatments and Side effects (for treatment see depressive disorders, similar concepts) a. Individual Psychotherapy b. Group Therapy c. Family Therapy d. Cognitive Therapy e. The Recovery Model - mostly used with drug addicts and now using also with chronic mental disorder. We are managing the symptoms not curing it i. Continuous process in which individual identifies goals based on personal values or what he or she defines as giving meaning and purpose to life. ii. Work on strategies to help the individual to take control of and manage his or her illness iii. Following strategies are: 1) Become an expert on the disorder 2) Take medications regularly 3) Become aware of earliest symptoms 4) Develop a plan for emergencies 5) Identify and reduce sources of stress: know when to seek help 6) Develop a personal support system 7) Develop a plan for emergencies f. ECT g. Psychopharmacology i. Traditional Mood Stabilizers 1) Calcium Channel Blocker a) Verapamil 2) Antimanic a) Lithium - lithium toxicity include appearing you are drunk which mean we can missed it entirely and then it get advanced and get dangerous. Best medication however you need to have a high rate of compliance and need to have blood drawn done at all of the time. 3) Anticonvulsants a) Carbamazepine/ Tegretol b) Valproic Acid/ Depakote c) Lamotrigine/ Lamictal d) Gabapentin/ Neurontin e) Topiramate/ Topamax f) Oxcarbazepine/ Trileptal g) Do not caused severe toxicity as lithium Ii. Antipsychotics - second generation atypical 1) Olanzapine/ Zyprexa 2) Aripiprazole/ Abilify 3) Chlorpromazine/ Thorazine 4) Quetiapine/ Seroquel 5) Risperidone/ Risperdal 6) Ziprasidone/ Geodon 7) Asenapine/ Saphris 8) Be careful for symptoms of EPS h. Side effects 1) **Lithium Toxicity 1) Treatment for acute mania is 1.0 to 1.5 meq/l and for maintenance is 0.6 to 1.2 meq/l 2) Must be monitor at least once or twice a week after initial treatment until dosage is stable. 3) Symptoms begin to appear in blood levels greater than 1.5 meq/l a) 1.5 to 2.0 meq/l: blurred vision, ataxia (lack of voluntary muscle coordination - gait abnormality), tinnitus, persistent nausea and vomiting and severe diarrhea b) 2.0 to 3.5 meq/l: excessive output of dilute urine, increasing tremors, muscular irritability, psychomotor retardation, mental confusion and giddiness c) Above 3.5 meq/l: impaired consciousness, nystagmus (dancing eyes), seizures, coma, oliuria/anuria, arrhythmias, myocardial infarction and cardiovascular collapse. 4) Prior to giving lithium, check the blood levels 2) Drowsiness 3) Dry mouth 4) GI upset 5) Fine tremors 6) **Lamictal Rash - if we see a rash, we stop it immediately similar to steven johnson syndrome because it is life threatening 7) Hypotension 8) **Metabolic Syndrome

uniparental disomy

The child inherits both copies of a chromosome pair from the same parent instead of one copy from each. Example: PKU

Human Genome Project

The leaders of the HGP were proactive in addressing the policy issues that would arise from the genomic era of health care. A minimum of 5% of each year's budget was set aside for research that could help address the ethical, legal and social implications of genetic discoveries.

Monosomy

The loss of one chromosome 2n-1 Examples: Turner Syndrome, Klinefelter Syndrome

Question 1

The process by which genetic variation is created is called: A. nondisjunction B. cell division C. asexual reproduction D. crossing over Answer is crossing over

Meiosis

The process by which germ cells, eggs and sperm are formed. The result is 4 haploid daughter cells with 23 chromosomes each.

Psychoneuroimmunology

The study of stress interactions between psychological processes and the nervous and immune systems. This includes both the physical and social environments. Social Genomics Remember: the epigenome is flexible. Diseases related to stress - hypertension, heart disease (MI), GI problems

Epigenome: Histone Methylation

This is a second method for gene silencing involving modifications to histone tails after translation. In cancer, histones tighten and prevent a gene from being exposed to translation causing it to be silenced.

Interphase

This is the longest phase of the cell cycle Gap 1 Begins immediately after mitosis RNA, protein, and other molecules are synthesized Synthesis DNA is replicated Chromosomes become double stranded Gap 2 Mitochondria divide Precursors of spindle fibers are synthesized

Immune cells 2

What are the cells involved and what is special thing about each cell (this will help you recognize it on a test.) 1. Granulocytes - characterized by the present of granules in their cytoplasm. Also they are called Polymorphonuclear leuokcytes (PMNL) because their nucleus have three or five lobes of the nucleus 2. Agranulocytes - they do not have granules in their cytoplasm. They only have one lobe for their nucleus. Name of Cell Granulocytes or Agranulocytes? What does it do? Location Apply to nursing care Endothelial cells None helped to separate from intravascular and the extravascular spaces - they provide a selective permeability barrier to exogenous (microbial) and endogenous inflammatory stimuli; regulate leukocyte extravasation by expression of adhesion molecules and receptor activation; contribute to the regulation and modulation of immune responses through synthesis and release of inflammatory mediators; and regulate immune cell proliferation through secretion of hematopoietic colony-stimulating factors (CSFs). Endothelial cells also participate in the repair process that accompanies inflammation through the production of growth factors that stimulate angiogenesis and extracellular matrix synthesis. Form the lining of the blood vessels - single cell thick - known as simple squamous cell Important to maintain good wound care to allow the endothelial cell to perform vasodilation to allow the blood flow and the increase permeability to fight off the infections and repair the wound. neutrophils Granulocytes Also known as PMN - polymorphonuclear neutrophils due to having a nuclei that is divided into 3 or 5 lobes. Account for 60-70% of the immunity. Neutrophils are scavenger cells capable of engulfing bacteria and other cellular debris through phagocytosis. Their cytoplasmic granules, which resist staining and remain a neutral color, contain enzymes and other antibacterial substances that are used in destroying and degrading engulfed microbes and dead tissue. Neutrophils also have oxygen-dependent metabolic pathways that generate toxic reactive oxygen (e.g., hydrogen peroxide) and nitrogen (e.g., nitric oxide) species that aid in the destruction of engulfed pathogens. They have pseudopods used in amoeboid movement (like amoeba) and are highly mobile. Arrived within 90 minutes of infections. Have short life span - 24 or 48 hours. Appears at acute inflammation Produced in bone marrow Elevated WBC with neutrophils indicate the beginning stage of infections eosinophils Granulocytes account for 2% to 3% of circulating leukocytes and are recruited to tissues in a similar way as the neutrophils. Eosinophils also play an important role in allergic reactions by controlling the release of specific chemical mediators. They interact with basophils and are prominent in allergic reactions such as hay fever and bronchial asthma. Eosinophils have a longer life span than neutrophils and therefore are present in chronic inflammation. Their appearance at the site of inflammation occurs 2 to 3 hours after the neutrophils. This is, in part, because of their slower mobility and comparatively slower reaction to chemotactic stimuli. Produced in bone marrow Elevated WBC for eosinophils may indicate allergies reactions and chronic inflammation Monocytes/macrophages agranulocytes Account 3 to 8% of WBC. Largest of the WBC. Monocyte/macrophages produce potent vasoactive mediators including prostaglandins and leukotrienes, platelet-activating factor (PAF), inflammatory cytokines, and growth factors that promote regeneration of tissues.8,9 As their name implies, macrophages are capable of phagocytosis and are active in bacterial killing. They engulf larger and greater quantities of foreign material than the neutrophils, and their circulating life span is three to four times longer than that of any granulocyte. These longer-lived phagocytes help to destroy the causative agent, aid in the signaling processes of immunity, serve to resolve the inflammatory process, and contribute to initiation of the healing processes. Monocytes are produced in the bone marrow but macrophages are produced by monocytes when entering the blood stream Help to maintain chronic inflammation - macrophages lymphocytes agranulocytes They participate in immune-mediated inflammation caused by infectious agents as well as non-immune-mediated inflammation associated with cell injury and death. Both T and B lymphocytes (T and B cells) migrate into inflammatory sites using some of the same adhesion molecules and chemokines that recruit neutrophils and other leukocytes. In the inflammatory site, they produce antibodies directed against persistent antigens and altered tissue components. In some intense, chronic inflammatory reactions, plasma cells and other lymphocytes may accumulate to form geminal centers that resemble lymph nodes Plasma cells developed into B lymphocytes They produced the antibodies such as IgG which would show up in lab results for a serum titer. Such as having either the disease or been immunized against it. Basophils/mast cells granulocytes Account for less than 1% of the circulating leukocytes. They are important in allergic reactions. Binding of IgE triggers release of histamine and vasoactive agents from the basophil granules. Mast cells derive from the same hematopoietic stem cells as basophils but do not develop until they leave the circulation and lodge in tissue sites. They are particularly prevalent along mucosal surfaces of the lung, gastrointestinal tract, and dermis of the skin.2,10 This distribution places them in a sentinel position between environmental antigens and the host for a variety of acute and chronic inflammatory conditions. Activation of mast cells results in release of the preformed contents of their granules (e.g., histamine, proteases, cytokines such as tumor necrosis factor-α [TNF-α] and interleukin-16 [IL-16], growth factors such as vascular endothelial growth factor [VEGF]) and synthesis of lipid mediators derived from cell membrane precursors (arachidonic acid metabolites, such as prostaglandins, and platelet-activating factor).

Question 3

Which of the following are determinants of health and illness? A. Genetic/ genomic factors B. Environmental factors C. Behavioral Factors D. All of the above E. A and B only Answer is D

Pretest for chapter 2

•1. Genetic/genomic bio-banking refers to the collection and storage of biological materials for research and other purposes including, but not limited to, clinical diagnosis, treatment and/or the prognosis of genetic diseases, and other genetic health-related issues. A.True B.False •2. Community health nurse practice refers to nursing practice that emphasizes both personal health care practice and public health nurse practice. A.True B.False •3. The [three words] refers to a multiyear, multibillion dollar, international research project, completed in 2003, whose primary aim was to determine the sequence of the chemical base pairs that make up human DNA, and to identify and map the approximately 25,000 genes in the human genome from a physical and functional standpoint. What are three words are missing from the preceding sentence? •4. Epidemiology refers to the A.study of the distribution of health-related events and states. B.frequency of health-related events and states. C.determinants of health-related events and states. D.control and/or prevention of health-related problems. E.All of the above •5. Essential competencies, curricula guidelines, and outcome indicators for all registered nurses in the United States have been developed by an independent panel of nurse leaders from clinical, research, and academic settings whose goal was to establish the minimum basis by which to prepare the nursing workforce to deliver competent genetic- and genomic-focused nursing care. A.True B.False •6. Primary prevention refers to efforts aimed at A.reducing the incidence of specific disorders, injury, and disability, including birth defects. B. minimizing the clinical manifestations of specific disorders, injury, and/or disability, including birth defects, through disease management. C.averting and/or preventing social, financial, ethical, and legal burdens and situations including, for example, stigmatization, discrimination, and/or bias against affected patients, families, and communities. D.All of the above •7. Registered nurses treat and educate patients, families, and communities; record medical histories; perform physical examinations; order tests and analyze their results; utilize equipment; administer treatments including medications; and help patients and families with follow-up care. A.True B.False •8. Genetic counseling refers to a communication process that helps individuals, families, and communities understand and adapt to which of the following implications of the genetic contributions to disease? A.Biological B.Medical C.Psychological D.Financial E.Ethical F.Legal G.Social H.All of the above •9. Genetic testing refers to A.a diagnostic evaluation to determine if a genetic condition is present. B.analyzing a population to determine which individuals are at risk for a genetic disease or for transmitting one C.Both A and B •10. Health literacy refers to which of the following? A.Cultural and conceptual knowledge B.Listening and speaking skills C.Writing and reading skills D.The ability to understand and work with numbers (numeracy), as they pertain to health and health care E.All of the above F.B and C, above 1. A; 2. A; 3. Human Genome Project; 4. E; 5. A; 6. A; 7. A; 8. H; 9. A; 10. E

Pretest chapter 7

•1. When a set of parents has a child affected by an autosomal recessive disorder, the most likely recurrence risk is 1.100%. 2.50%. 3.33%. 4.25%. •2. New autosomal dominant disorder mutations in families in certain conditions have been associated with increased age of the father. A.True B.False •3. What is the risk for hemophilia A in the grandsons if their paternal grandfather has hemophilia A? 1.0% 2.50% 3.25% 4.100% •4. Which type of inheritance pattern occurs in a genetic disorder in which the phenotype appears in every generation, the normal family members transmit the gene to their offspring, and males and females are equally affected? 1.Autosomal dominant 2.Autosomal recessive 3.X-linked dominant 4.Mitochondrial •5. In Duchene muscular dystrophy, the median age of survival is 18 with most patients dying of 1.cardiac arrest. 2.ruptured aneurysms. 3.impaired pulmonary function. 4.malnutrition. •6. For a couple who have produced one child with cystic fibrosis, the risk for developing the disease for each subsequent child is 1.50%. 2.25%. 3.100%. 4.0%. •7. The newborn screen assesses primarily for metabolic and hemoglobinopathies disorders that are considered 1.autosomal recessive. 2.autosomal dominant. 3.X-linked recessive. 4.mitochondrial. •8. Mitochondrial disorders are inherited by 1.maternal side. 2.fraternal side. 3.both maternal and fraternal. 4.multifactorial. •9. Which of the following traits are never transmitted from the father to son? 1.Autosomal recessive 2.Autosomal dominant 3.X-linked recessive 4.Y-linked disorders •10. While genetic testing can identify the genetic composition of an individual, the may not be able to accurately determine what a person actually will look like; however, the can. 1.genotype; phenotype 2.phenotype; genotype 3.phenotype; allele •11. Mendelian Inheritance patterns include 1.autosomal dominate. 2.autosomal recessive. 3.multifactorial. 4.Both A. and B. •12. For an autosomal dominant disease, if two affected parents have a child, what is most likely the risk of passing on the disorder? 1.100% 2.25% 3.50% 4.75% •13. Few genes are known to be located on the Y chromosome and inherited from father to son. A.True B.False •14. If an aunt has children with her nephew, which of the following terms is used to describe the relationship? 1.Interrelatedness 2.Recessively 3.Inbreeding loop 4.Consanguinity •15. A portion of individuals with a mutated gene show no signs and symptoms of the disorder. A.True B.False •16. Any tissue with mitochondria can be affected by mitochondrial disease. A.True B.False •17. Inheritance can explain conditions like baldness and gout. A.True B.False •18. An example of co-dominance is the ABO blood group. A.True B.False •19. Genetic disorders showing anticipation demonstrate increased severity with future generations. 1.True 2.False •20. The following are true regarding X-linked dominant disorders EXCEPT 1.mutated gene is located on the X chromosome. 2.X inactivation in females modifies the affect in females. 3.affected families show excess of male offspring is 2:1. 4.disorders are relatively uncommon. Answer: 1. D; 2. A; 3. A; 4. A; 5. C; 6. B; 7. A; 8. A; 9. C; 10. A; 11. D; 12. A; 13. A; 14. D; 15. A; 16. B; 17. A; 18. B; 19. A; 20. C

Posttest for chapter 16

•1. Which of the following best describes the cause(s) of cancer? 1.A "critical gene" mutation 2.The accumulation of DNA mutations as well as changes in epigenetic processes 3.An inherited genetic condition 4.A complex, multistep process •2. Which of the following is NOT a hallmark capability of cancer according to Hanahan & Weinstein (2011)? 1.Ability to sustain chronic proliferation 2.Ability to evade growth suppressors 3.Ability to generate germline mutations 4.Ability to resist cell death 5.Ability to activate invasion and metastasis •3. Which of the following best describes a proto oncogene? 1.A subset of tumor suppressor genes 2.A gene that when mutated can become an oncogene 3.A gene with a point mutation that is common in many cancers 4.A gene that makes proteins that inhibit normal cell division 5.A major cause of chronic myelogenous leukemia •4. Which of the following best describes why viruses like Epstein Barr and hepatitis B can contribute to cancer development? 1.Infection with these viruses leads to clonal expansion of infected cells with loss of normal function. 2.Infection with these viruses can activate invasion and metastasis. 3.Viral DNA are inserted into cellular DNA during replication. •5. The development of drugs that target angiogenesis are a promising new model for treating cancer. A.True B.False •6. Which of the following has NOT been described as an effect of epigenetics? 1.Epigenetics has the ability to chemically program cellular behavior. 2.Epigenetic changes in tumor cells are potentially reversible. 3.Epigenetic functions are heritable. 4.Epigenetics can turn a particular gene on as well as off. 5.Cancer drugs do not influence epigenetic function. •7. How will an improved understanding of the molecular genetics of a particular type of cancer contribute to personalized medicine? 1.Treatment can be targeted to the particular gene, gene product, or molecular pathway that triggers a cancer. 2.The genetic signature of a cancer can be used to predict prognosis. 3.Biomarkers can monitor the effect(s) of cancer treatment. 4.All of the above •8.Nurses must understand cancer genetics because 1.they make up the largest number of direct care providers. 2.there are insufficient genetic experts to translate cancer genetic information to patients and the public. 3.they are the case finders for cancer predisposition. 4.All of the above •9. Red flags that suggest inherited predisposition for cancer include all of the following EXCEPT 1.multifocal or bilateral disease. 2.early age of cancer onset, typically before age 50 years. 3.multiple, affected family members. 4.evidence for rapid metastasis among multiple individuals with cancer. 5.occurrence of similar cancers across multiple generations. •10. Cancer treatment is evolving and new drugs are being developed to target very specific gene functions and or cancer development pathways. Which of the following skills or competencies is most important for a nurse? 1.History taking and physical assessment skills 2.Initiation and participation in systems processes that enable continuous monitoring for and recording of adverse events 3.Collaboration with other providers to develop patient care guidelines for the management and prevention of unanticipated events 4.Patient education about the drug effects, interactions, and the need to report unexpected drug effects 5.All of the above 1. B; 2. C; 3. B; 4. C; 5. A; 6. E; 7. D; 8. D; 9. D; 10. E

Pretest for chapter 16

•1. Which of the following best describes the cause(s) of cancer? 1.A critical gene mutation 2.The accumulation of DNA mutations as well as changes in epigenetic processes 3.An inherited genetic condition 4.A complex, multistep process •2. Which of the following is NOT a hallmark capability of cancer according to Hanahan and Weinstein (2011)? 1.Ability to sustain chronic proliferation 2.Ability to evade growth suppressors 3.Ability to generate germ line mutations 4.Ability to resist cell death 5.Ability to activate invasion and metastasis •3. Which of the following best describes a proto oncogene? 1.A subset of tumor suppressor genes. 2.A gene that when mutated can become an oncogene. 3.A gene with a point mutation that is common in many cancers. 4.A gene that makes proteins that inhibit normal cell division. 5.A major cause of chronic myelogenous leukemia. •4. Which of the following best describes why viruses like Epstein Barr and hepatitis B can contribute to cancer development? 1.Infection with these viruses leads to clonal expansion of infected cells with loss of normal function. 2.Infection with these viruses can activate invasion and metastasis. 3.Viral DNA are inserted into cellular DNA during replication. •5. The development of drugs that targets angiogenesis are a promising new model for treating cancer. A.True B.False •6. Which of the following has NOT been described as an effect of epigenetics? 1.Epigenetics has the ability to chemically program cellular behavior. 2.Epigenetic changes in tumor cells are potentially reversible. 3.Epigenetic functions are heritable. 4.Epigenetics can turn a particular gene on as well as off. 5.Cancer drugs do not influence epigenetic function. •7. How will an improved understanding of the molecular genetics of a particular type of cancer contribute to personalized medicine? 1.Treatment can be targeted to the particular gene, gene product, or molecular pathway that triggers a cancer. 2.The genetic signature of a cancer can be used to predict prognosis. 3. Biomarkers can monitor the effect(s) of cancer treatment. 4.All of the above •8. Nurses must understand cancer genetics because 1.They make up the largest number of direct care providers. 2.There are insufficient genetic experts to translate cancer genetic information to patients and the public. 3.They are the case finders for cancer predisposition. 4.All of the above •9. Red flags that suggest inherited predisposition for cancer include all of the following EXCEPT 1.multifocal or bilateral disease. 2.early age of cancer onset, typically before age 50 years. 3.multiple affected family members. 4.evidence for rapid metastasis among multiple individuals with cancer. 5.occurrence of similar cancers across multiple generations. •10. Cancer treatment is evolving and new drugs are being developed to target very specific gene functions and or cancer development pathways. Which of the following skills or competencies is most important for a nurse? 1.History taking and physical assessment skills 2.Initiation and participation in systems processes that enable continuous monitoring for and recording of adverse events. 3.Collaboration with other providers to develop patient care guidelines for the management and prevention of unanticipated events. 4.Patient education about the drug effects, interactions, and the need to report unexpected drug effects. 5.All of the above 1. B; 2. C; 3. B; 4. C; 5. A; 6. E; 7. D; 8. D; 9. D; 10. E

Posttest chapter 20

•1. You are considering referral of a patient diagnosed with MDD to a genetic counselor. You expect that the counselor would 1.estimate the risk of recurrence by evaluation of the family history. 2.test the patient for specific chromosomal abnormalities known to be associated with psychiatric disorders. 3.discourage the patient from having children due to the heritability of MDD. 4.suggest testing of all offspring for MDD risk factors. •2. MDD is unipolar because 1.the mood is consistently depressed with lack of interest in the events of daily living for more than 2 weeks. 2.mania is present only once every few months.. 3.hypomania is present but insufficient to meet the criteria for mania. 4.there is no improvement following treatment with an antidepressant agent. •3. Mood disorders are currently diagnosed using 1.genetic screening laboratory tests for chromosomal abnormalities. 2.symptomatic description in the DSM-IV-TR. 3.response to trial administration of antidepressant medications. 4.by SPECT or PET scanning of the hippocampus. •4. All current pharmacologic treatments for mood disorders are predicated on 1.modification of the amount of functional neurotransmitter in the neuronal synapse. 2.producing hyperpolarization of the presynaptic membrane. 3.expression of genes responsible for appropriate protein synthesis at the synapse. 4.presence of specific genetic polymorphisms that enhance drug activity. •5. Your assessment of the patient indicates that he most likely has MDD. This disorder is the result of 1.clearly identified patterns of inheritance from his parents. 2.decreased neurotransmitter at the synapse with resultant upregulation of receptors. 3.downregulation of postsynaptic receptors due to excess neurotransmitter. 4.overactive transporter systems at the postsynaptic membrane. •6. The heritability of MDD is estimated to be in the general population. 1.75% 2.68% 3.45% 4.38% •7. The primary reason for the use of twins to study the rate of incidence of MDD is 1.twin pairs have a higher incidence of MDD overall. 2.BPD-I is more common in twin pairs. 3.study of concordance rates for MDD in twins is useful in establishing incidence because of the presence of familial aggregation. 4.they are more likely to have variant alleles for MDD. •8. The results of linkage studies, candidate gene studies, and GWAS have 1.identified important genes that are major contributors to the development of MDD. 2.confirmed our understanding that there are multiple genes making small individual contributions to susceptibility for MDD. 3.allowed development of improved treatment modalities for MDD. 4.produced selective genetic tests for specific types of Mood Disorders. •9. Mood Disorders are complex diseases that are the result of 1.interaction of susceptibility genes with environmental stressors. 2.inherited personality traits. 3.modification of personality due to genetic mutations. 4.consanguinity with resultant genetic mutation. •10. During the nurse's assessment, the patient states, "You know I have MDD so I guess I just got lousy genes from my mom, who also had MDD." Which of the following actions by the nurse would be most appropriate at this time? 1.Immediately referring of the patient to a genetic counselor 2.Discussing the role of stress in development of MDD and assisting the patient to identify stress reduction techniques 3.Agreeing that genetics can be a problem and suggesting an antidepressant 4.Recommending discussion of his feelings about his illness with a counselor or minister. POSTTEST Answers: 1. A; 2. A; 3. B; 4. A; 5. B; 6. D; 7. C; 8. B; 9. A; 10. B

Chapter 9 sections

1. A man who is the son of a woman with Huntington disease has what chance of having inherited the disease for this condition? A.1 in 4 B.1 in 2 C.2 in 3 D.1 in 3 2. Personal health care information A.is not private. B.is not confidential. C.may never be revealed to another entity under any circumstances. D.may become known to others as the result of genetic testing. 3. Before signing a consent form, the patient should A.consult their attorney. B.read the document carefully and ensure that all parts of it are understood. C.insist on seeing the patient ombudsperson. D.be premedicated for the procedure. Answers: 1. B; 2. D; 3. B 1. Newborn screening A.is performed only after written parental informed consent. B.is a population-based screening program undertaken by state health departments. C.provides definitive diagnoses. D.may be performed any time during the first year of life with equally valid results. 2. Genetic testing of minor children A.requires written informed consent from the child. B.is never justified. C.is not recommended as a general rule. D.is not covered by parental health insurance. Answers: 1. B; 2. C 1. If a woman discovers that she is carrying a child with a lethal genetic condition she may A.choose to keep this information private and confidential. B.be forced to have the child against her wishes. C.be referred to an adoption agency. D.be denied insurance for the pregnancy. 2. Presymptomatic genetic testing A.is required as a part of preventive health maintenance. B.is required for life insurance policies. C.is a voluntary decision. D.requires informed consent of a person's spouse. Answers: 1. A; 2. C

Section chapter 21

1. A substance-related disorder can result from all of the following, EXCEPT A.abusing a drug such as hydrocodone. B.dose alterations such as using prescription strength of a medication alternating with over-the-counter strength. C.being exposed to a toxic chemical such as monomethyl hydrazine, which is found in false morels. D.experiencing side effects of a medication such as an anticonvulasant. 2. Substance-use disorders include substance-induced cognitive disorders and mood disorders. A.True B.False 3. When problematic physical changes occur when a substance is reduced or stopped, it is called A.heavy and regular use of a substance. B.maladaptive physiological changes. C.withdrawal. D.tolerance. 4. Which of the following are the typical sequelae of repeated substance use? A.Recurrent social and relationship problems B.Immediate and delayed physiological impacts C.Otherwise unexplained changes in academic performance D.Changes in occupational and vocational experiences E.All of the above 5. Needing increased amounts of a substance in order to obtain euphoria is called A.intoxication. B.substance dependence. C.substance abuse. D.tolerance. Answers: 1. B; 2. A; 3. C; 4. D; 5. D 1. Genetic factors A.completely determine the pathogenesis of substance abuse. B.are the only known factors that influence the pathogenesis of substance abuse. C.play no role in the pathogenesis of substance abuse. D.play a role, in addition to behavioral learning, in the pathogenesis of substance abuse. 2. If a pregnant woman ingests alcohol A.there is no risk of genetic damage to the fetus. B.there is risk of genetic damage to the fetus that can be passed on to subsequent generations. C.there is no risk of genetic damage to the fetus that can be passed on to subsequent generations. D.it is certain that the baby will have fetal alcohol syndrome. 3. Children of alcoholics A.display an enormous variety of personality types and levels of functioning. B.have a similar personality type. C.will very likely develop Axis I disorders. D.will very likely develop Axis II disorders. 4. Nicotine abusers who prefer mentholated cigarettes A.have specific nucleotide polymorphisms. B.have no specific genetic characteristics. C.have nonspecific nucleotide polymorphisms. D.have a specific psychological orientation. 5. The underlying mechanism of opioid dependence is clearly understood. A.True B.False Answers: 1. D; 2. B; A; 4. A; 5. B 1. Substance abuse is the result of A.a genetic profile. B.a specific environment. C.a specific combination of genes and environment. D.unspecified combinations of genetics and environmental factors. 2. Substance abuse A.may be mediated by a problem with inhibitory mechanisms. B.may be mediated by problems with inhibitory mechanisms and with reward activation. C.may be mediated by a problem with reward activation. D.is not mediated by inhibitory or reward activation mechanism dysfunction. 3. The risk of developing a substance abuse disorder A.can be quantified using our present understanding of genetic factors. B.can be quantified using our present understanding of genetic and environmental factors. C.cannot be quantified at present. D.is inherently unquantifiable. 4. Substance abuse and psychiatric problems A.do not coexist. B.rarely coexist. C.often coexist. D.are associated with a specific genetic marker when they coexist. 5. Vulnerability to substance abuse problems may be associated with specicifc types of opiate receptors. A.True B.False Answers: 1. D; 2. B; 3. C; 4. C; 5. A 1. Single nucleotide polymorphism technology: A.made a very limited contribution to our understanding of the genetics of substance abuse. B.is considered nearly obsolete given new technologies. C.is superior to technology examining restricted fragment length polymorphisms. D.allows an unlimited view into an individual's genetic makeup. 2. Disease psychopathology is A.related to probability of a mutation in certain areas of the genome. B.unrelated to probability of a mutation in any area of the genome. C.completely determined by probability of a mutation in certain areas of the genome. D.the primary determining factor mediating where mutations can occur in the genome. 3. Individuals classified as extensive metabolizers A.are at highest risk for cytochrome P450 problems. B.are at highest risk for problems metabolizing most psychiatric medications. C.need treatments developed with pharmacogenetic methods. D.are considered normal. 4. Restricted fragment length polymorphisms A.do not reflect DNA sequence. B.directly reflect DNA sequence. C.are found only in individuals classified as poor metabolizers. D.do not permit localization of genes in a disease process. 5. Behavioral interventions cannot help individuals with genetically mediated coping skill deficits. A.True B.False Answers: 1. B; 2. A; 3. D; 4. B; 5. B 1. In Western society, people with alcohol dependence A.have an annual relapse rate of 50% to 80%. B.have an annual relapse rate of 95% to 100%. C.have an annual relapse rate of 10% to 20%. D.generally do not relapse if they achieve sobriety and maintain it for 3 months. 2. Alcohol dependence is A.not heritable. B.heritable. C.not influenced by environmental factors. D.influenced by environmental factors but not by genetic factors. 3. An infant born to an alcoholic mother who was actively drinking during the pregnancy A.should never be given alcohol. B.may need to be quickly withdrawn from alcohol following birth. C.is unlikely to have sustained any brain damage as long as the pregnancy was full term. D.may need to be withdrawn gradually from alcohol immediately following birth. 4. Someone who has a nicotine addiction A.cannot be influenced by environmental factors. B.is not influenced by genetic factors. C.cannot be treated effectively with behavioral interventions. D.cannot depend on sufficient deployment of behavioral interventions. 5. A combination of pharmacotherapy with an effort to improve coping skills can help substance dependent client significantly. A.True B.False Answers: 1. A; 2. B; 3. D; 4. D; 5. A 1. As a nurse, your involvement with substance-dependent clients and their families will revolve around A.medication administration. B.assessing vital signs. C.teaching. D.providing reassurance. 2. If a substance-dependent client has children, those children A.are at no elevated risk for problems with substances. B.have an elevated risk for problems with substances. C.do not benefit from proactive interventions. D.are less likely to benefit from proactive and prevention-oriented nursing interventons than the children of non-substance-dependent clients. 3. Research on behavioral patterns associated with substances A.would be less useful if substance use patterns were not dichotomously classified as using or not using. B.would be more useful if intermittent or occasional substance users were excluded. C.would be more useful if quantitative methods were not used. D.would be more useful if different levels of substance use were staged and quantified. 4. Substance abuse is usually not associated with specific behavior patterns. A.True B.False 5. Children who are adopted by people who abuse substances A.are at higher risk to develop substance abuse due to environmental factors. B.are not at higher risk to develop substance abuse because they are not blood relatives of the people who are substance abusers. C.are at lower risk to develop substance abuse due to environmental factors. D.are at higher risk to develop substance abuse due to genetic factors. Answers: 1. C; 2. B; 3. D; 4. B; 5. A

Chapter 5 sections

1. Autosomal aneuploidy can result in A.Turner syndrome. B.Down syndrome. C.translocative nullisomy. D.Klinefelter syndrome. 2. Nondisjunction means that a pair of chromosomes A.separated prematurely. B.separated late. C.did not separate. D.fused together within one particular group of cells. 3. Those infants with experienced autosomal aneuploidy are born with significant defects in A.secondary sex characteristics. B.cardiovascular and respiratory function. C.cognition and mental function. D.personality and mood. 4. Aneuploidy is believed to account for approximately what percentage of spontaneous abortions? A.5 B.10 C.25 D.50 5. Trisomy is defined as A.the addition of one chromosome. B.the addition of two chromosomes. C.the subtraction of one chromosome. D.the addition of two chromosomes. Answers: 1. B; 2. C; 3. C; 4. D; 5. A 1. Of those with Edwards syndrome, how many are expected to reach age 10? A.50% B.40% C.20% D.10% 2. Which syndrome is most likely to occur in those with aneuploidy? A.Down B.Edwards C.Patau D.Turner 3. Trisomy is most likely to involve which chromosomes? A.13, 18 B.5, 7 C.13, 25 D.5, 8 4. The evidence for paternal involvement in aneuploidy is A.strong. B.inconsistent. C.unequivocal. D.No research has been done. 5. Aneuploidy has been estimated to occur in approximately every 1 out of every live births. A.10 B.100 C.150 D.200 Answers: 1. D; 2, A; 3. A; 4. B; 5. C 1. Nullisomy results in how many chromosomes? A.44 B.45 C.46 D.47 2. Monosomy refers to A.a missing chromosome. B.two missing chromosomes. C.an extra chromosome. D.two extra chromosomes. 3. In Turner syndrome, there is a(n) A.additional X chromosome. B.loss of an X chromosome. C.extra Y chromosome. 4. The outcome of nullisomy is often A.an extra X chromosome. B.Klinefelter syndrome. C.spontaneous abortion. D.Turner syndrome. 5. Those with autism are believed to be missing segments on what chromosome? A.The 4th chromosome. B.The 8th chromosome. C.The 21st chromosome. D.The X chromosome. Answers: 1. A; 2. A; 3. B; 4. C; 5. D 1. Tetrasomy is A.a relatively common condition. B.a relatively rare condition. C.a condition with little significance on functional ability. D.a leading cause of cancer in the developed world. 2. Edwards syndrome is a A.trisomy of chromosome 13. B.trisomy of chromosome 18. C.trisomy of chromosome 21. D.tetrasomy of chromosome 9p. 3. Pallister−Killian syndrome is an example of A.trisomy 13. B.trisomy 18. C.trisomy 21. D.tetrasomy. 4. Trisomy is the A.addition of a single chromosome. B.addition of two chromosomes. C.deletion of a single chromosome. D.deletion of two chromosomes. 5. The shape of the skull in children with trisomy 18 and 21 is best described as A.macrocephaly. B.microcephaly. C.anencephaly. D.craniostenosis. Answers: 1. B; 2. D; 3. D; 4. A; 5. B 1. Increased maternal age is associated with a(n) risk of having an infant with Down syndrome. A.decreased B.increased C.equivalent D.decreased (but only in cases of monosomy). 2. The incidence of cancer with increased age. A.decreases B.increases C.remains the same D.decreases (but only in cases of monosomy). 3. At the age of 35, the maternal risk of having a child with Down syndrome is 1 in . A.4 B.40 C.400 D.4,000 4. At age 45, the maternal risk of having a child with Down syndrome is 1 in . A.2 B.12 C.24 D.48 5. The risk of aneuploidy increases in association with age. A.True B.False Answers: 1. B; 2. B; 3. C; 4. C; 5. A

Pretest for Chapter 4

1. Cell division is A.an orderly sequence. B.identical for all cells in an organism. C.regulated by the hypothalamus. D.a random event. 2. The process of creating germ cells occurs during A.mitosis. B.meiosis. C.apoptosis. D.translocation. 3. The planned sequence for cell death is called A.mitosis. B.meiosis. C.translocation. D.apoptosis. 4. The longest phase of the cell cycle is A.mitosis. B.meiosis. C.cytokinesis. D.interphase. 5. Which is not present in DNA? A.Adenine B.Guanine C.Cytosine D.Uracil 6. When the orderly process of cell division is interrupted, the result can lead to cancer. A.True B.False 7. The process for division of cells into two daughter cells is called A.meiosis. B.mitosis. C.translocation. D.interphase. 8. Genetic variation occurs during A.crossing over. B.mitosis. C.interphase. D.cytokinesis. 9. A germ cell is A.diploid. B.haploid. C.aneuploidy. D.mutated. 10. Genetic variation is A.important for species survival. B.the result of unwanted mutations. C.caused by apoptosis. D.caused by human manipulation. PRETEST Answers: 1. A; 2. B; 3. D; 4. D; 5. C; 6. A; 7. B; 8. A; 9. B; 10. A

Chapter 18 sections

1. Common diseases have A.high prevalence. B.high mortality. C.either high prevalence or high mortality. D.both high prevalence and high mortality. 2. Race and ethnicity A.predict an individual's genotype. B.reflect shared ancestry. C.can be defined genetically. D.are well-defined concepts. 3. The amount of variability within a racial or ethnic group may result from A.traditions within the group. B.geography. C.past political factors. D.All of the above 4. Technological advances resulting from the Human Genome Project have advanced the understanding of common diseases. A.True B.False 5. Which of the following is true? A.Strong family history is an important risk factor for CVD. B.Family history is less important in highly heritable diseases. C.Familial risks are determined only by shared genetics. D.Family history is not an independent risk factor for CVD, but indicates other problems like hypertension. Answers: 1. C; 2. B; 3. D; 4. A; 5. A 1. Many genotypes can result in the same phenotype. A.True B.False 2. Heritability A.may vary within different types of a common disease. B.is constant within a particular disease. C.is important in monogenetic forms of disease, but not in polygenetic forms. D. has primarily determined by factors of race and ethnicity. 3. The environment may influence risk and progression of common diseases by A.affecting lifestyle choices. B.influencing epigenetic changes in DNA. C.having direct effects on DNA. D.All of the above 4. Epigenetic modifications A.upregulate gene transcription. B.downregulate gene transcription. C.may either upregulate or downregulate gene transcription. D.do not have a direct effect on genetic regulation. 5. Epigenetic changes can occur outside of the coding sequence of a gene. A.True B.False Answers: 1. A; 2. A; 3. D; 4. C; 5. A 1. Genes that were not previously suspected to be involved in a particular disease are more likely to be discovered by A.candidate gene studies. B.association studies. C.linkage and meta-analysis. D.case-control studies. 2. Candidate genes have been identified in all of the following EXCEPT A.hypertension. B.hyperlipidemia. C.coronary artery disease. D. COPD 3. A monogenetic form of COPD is linked to which gene? A.MMP 12 B.SERPINA1 C.CHRNA 3/5 D.Any of these genes can cause monogenetic COPD. 4. When the same genetic loci are linked to more than one common disease, it may indicate that A.there is an underlying mechanism shared by the diseases. B.different variants of the same gene may be important in different diseases. C.Both A and B are true. D.Neither A nor B are true. Answers: 1. B; 2. C; 3. B; 4. C 1. Genetic testing is most feasible for forms of common diseases. A.monogenetic B.polygenetic 2. Patients are expected to be highly resistant to incorporating genetic risk factors into clinical practice. A.True B.False 3. An example of an application of epigenetics in therapy is A.using TCF7L2 genotype to predict response to sulfonylurea medications. B.adding genes for cholesterol metabolism to CVD risk calculators. C.using DNA methyltransferase inhibitors to treat cancer. D.All of the above Answers: 1. A; 2. B; 3. C

Section chapter 20

1. MDs are diagnosed primarily by A.family history. B.laboratory assessment of genetic markers. C.symptomatic criteria found in the DSM-IV-TR. D.observed need for intervention due to social dysfunction. 2. BPD-II differs from BPD-I in that patients with BPD-II A.manifest severe manic episodes several times each year. B.experience hypomania rather than mania during cycling. C.never manifest "rapid cycling" behavior. D.have less risk of suicide than those with BPD-I. 3. Individuals with dysthymia A.will have a negative family history for MDs. B.rarely seek professional help. C.report a low-level daily depression that seems to have always been present. D.are generally not susceptible to MDD. 4. Recent studies indicate that the incidence of onset of MDD is A.increasing in older adults and adolescents. B.decreasing in older adults and adolescents. C.decreasing overall due to better recognition by society. D.unrelated to the presence of chronic coexisting diseases. 5. Patients suffering with MDD A.are incapable of functioning at work and want to sleep all the time. B.seldom seek medical attention for physical complaints. C.rarely commit suicide although they may often speak of doing so. D.may continue to function at near normal levels but state they are exhausted by the effort. Answers: 1. C; 2. B; 3. C; 4. A; 5. D 1. Neurotransmitters are initially released into the synaptic cleft as a result of A.presynaptic membrane depolarization causing release from storage vacuoles. B.postsynaptic membrane stimulation with increased vacuole storage. C.suppression of the reuptake pumps. D.stimulation from decreasing volume in the synaptic cleft. 2. Once released into the synaptic cleft, excess amounts of neurotransmitters may be taken back into the presynaptic neuron for reuse. This is accomplished by A.simple diffusion into the presynaptic neuron. B.the activity of COMT at the presynaptic neuron. C.the activity of MAO at the postsynaptic neuron. D.the activity of enzymatic transport pumps in the presynaptic membrane. 3. The neurotransmitter-receptor hypothesis of depression A.explains the side effects often observed with antidepressant medications. B.explains the longer time period needed for therapeutic effects to be observed in patients receiving antidepressant medications. C.states that the symptoms of depression may be related to the process of excessive downregulation of postsynaptic receptors. D.suggests that upstream signal transduction difficulties may be the cause of depression. 4. The action of antidepressant medications such as SSRI and tricyclic agents is based upon the ability of these drugs to A.increase the speed of reuptake of the transmitters into the presynaptic neuron. B.prevent the reuptake of neurotransmitter, thereby leaving more in the synaptic cleft. C.decrease the destruction of the transmitters by MAO. D.delay initial depolarization of the presynaptic neuron, thereby strengthening the impulse. 5. Chronic treatment of BPD patients with lithium has been shown to A.always result in tolerance that decreases effectiveness in controlling symptoms. B.always require the coadministration of antidepressants to control symptoms. C.reduce overall suicide and mortality rates. D.always require boosting with antipsychotic drugs to control manic episodes. Answers: 1. A; 2. D; 3. B; 4. B; 5. C 1. The symptoms of major depression are the result of A.the presence of increased genetic susceptibility. B.response to internal and external environmental stresses. C.inherited personality disorders and lack of discipline. D.Both A and B 2. Susceptibility genes for development of mood disorders have been found to A.be numerous, with each contributing small amounts to overall risk. B.be present in only a limited number of chromosomes. C.not aggregate in families. D.be predictive of disease onset. 3. The degree of heritability of MDD appears to be greatly increased if A.there is no identified relative with MDD in the previous generation. B.there has been a suicide attempt by the patient. C.there is early onset with a number of recurrences. D.there is very late onset with dementia. 4. The portions of chromosomes containing susceptibility genes for MDs are thought to be heritable at a rate greater than chance. Completed linkage studies that identify these areas of "linkage" have A.allowed identification of specific causative genes for MDD. B.isolated a number of genes that make small contributions to overall effect in MDD development. C.established MDD as due to inheritance of a dominant gene with 100% penetrance. D.failed to demonstrate any heritable linkage sites for MDD. 5. It appears that analysis of very large pooled samples of affected subjects and controls will be necessary to identify fully the role of genetics in the development of mood disorders. This may best be achieved by the use of A.analysis of individual family histories. B.primary linkage studies. C.GWAS and whole genome sequencing. D.continued twin studies. Answers: 1. D; 2. A; 3. C; 4. B; 5. C 1. Genetic counselors asked to assess individuals with Mood Disorders will A.explain the results of genetic screening tests for the specific disorder to the patient. B.discuss appropriate treatment of the specific disorder. C.estimate the rate of recurrence using the family history. D.counsel the individual about not having children due to the heritability of Mood Disorders. 2. Some degree of depression is estimated to be present in of patient following coronary artery bypass graft procedures. A.10% B.30% C.60% D.75% 3. In order to be effective in educating patients with Mood Disorders, the nurse must A.be aware of cultural and language differences that may be present. B.be aware of any preexisting knowledge the patient may have. C.respect religious beliefs the patient may hold. D.All of the above 4. The most important tool the nurse may have in assessing a patient for the risk of development of a Mood Disorder is A.a completed three-generation pedigree chart. B.a written mood assessment survey completed by the patient. C.genetic screening tests for chromosomal defects. D.early immunization records. Answers: 1. C; 2. B; 3. D; 4. A

Section chapter 19

1. Mania is a persistent elevation of mood. Characteristics of this elevated mood state include A.increased sleep, racing thoughts, and social isolation. B.decreased sleep, racing thoughts, and increased risk taking. C.racing thoughts, social isolation, and reduced sleep. D.racing thoughts, focused thinking, and decreased sleep. 2. Dysthymia is a mood disorder best described as A.a chronic state of low-level mania. B.a chronic state of psychosis. C.a chronic state of low-level depression. D.a chronic state of mania. 3. Bipolar disorder is best described as a thought disorder in which there are A.periods of low energy and depression mixed with psychosis. B.periods of high energy with psychotic features. C.periods of high energy. D.periods of high energy alternating with periods of depression. 4. Bipolar disorder affects up to what percentage of adults in the United States? A.3 B.6 C.9 D.20 5. Bipolar II disorder differs from Bipolar I in that the degree of mania A.is less severe. B.is more severe. C.displays psychotic features. D.presents at the same time as dysthymia. Answers: 1. B; 2. C; 3. D; 4. A; 5. A 1. The risk of developing bipolar disorder among first-degree relatives of those with bipolar disorder is approximately A.3%. B.6%. C.9%. D.18%. 2. Twin concordance for bipolar disorder ranges between A.10%-20%. B.20%-30%. C.40%-50%. D.70%-80%. 3. Catechol-O-methyltransferase is an enzyme that contributes to A.increased expression of catecholamines. B.the degradation of catecholamines. C.selective expression of dopamine. D.selective expression of serotonin. 4. Serotonin and dopamine appear to be involved in bipolar disorder through their effects on parts of the brain involved in the processing of A.sensory stimuli. B.ambient noise. C.pain. D.risk and reward. 5. Symptom onset in those with bipolar disorder is generally before age A.15. B.19. C.30. D.50. Answers: 1. C; 2. C; 3. B; 4. D; 5. B 1. A diagnostic hallmark of bipolar disorder is A.depression. B.psychotic features. C.mania. D.social isolation and withdrawal. 2. Mania is thought to be associated with increased levels of neurotransmitters. A.excitatory B.inhibitory C.dopamine D.serotonin 3. The presence of mania may emerge from increased activity of neurons in the frontal cortex. A.serotonergic B.dopaminergic C.glutamatergic D.cortisol-sensitive 4. Dopamine has effects primarily through its A.actions on cortisol. B.influence on glutamate. C.glycogen synthase. D.receptor binding. 5. Glutamate is an neurotransmitter. A.inhibitory B.excitatory Answers: 1. C; 2. A; 3. C; 4. D; 5. B 1. Select single nucleotide polymorphisms have been found in those with bipolar disorder that result in expression of CRY-2. A.increased B.decreased C.cyclic 2. Which of the following genes is most responsible for regulation of the circadian system? A.CLOCK B.GSK-3 C.FOX 3 D.DAOA 3. The circadian system is regulated by a group cells located within the A.suprachiasmatic nuclei within the hypothalamus. B.midbrain raphe. C.frontal lobe. D.pituitary. 4. In psychiatric conditions, sleep disturbances usually changes in mood. A.occur after B.precede C.improve after D.worsen after 5. In an animal study that removed the CLOCK gene from mice, the mice displayed A.decreased sleep and increased social exploration. B.increased sleep and social isolation. C.hypoactivity and social isolation. D.hyperactivity and social isolation. Answers: 1. B; 2. A; 3. A; 4. B; 5. D 1. Lithium has individual effects on transcription of which of the following genes? A.CRY-1 B.CRY-2 C.GSK-3 D.FOX3 2. The proposed mechanism of action for anticonvulsants in the treatment of bipolar disorder is through effects on A.CLOCK. B.CRY-1. C.GSK-3. D.HDAC. 3. The administration of lithium could have which of the following effects on the circadian regulation of sleep? A.It can shorten the sleep cycle. B.It can extend the sleep cycle. C.It can prevent the encoding of glycogen synthase. D.It can enhance responsiveness to glutamate. 4. Histone deacetylases have relevance in the treatment of bipolar disorder as they A.suppress the production of cortisol. B.enhance the production of cortisol. C.enhance gene expression. D.suppress gene expression. 5. Valproate has which of the following effects on HDACs? A.inhibitory B.excitatory C.enhance HDAC production through effects on FOX3 D.inhibit HDAC production through effects on FOX3 Answers: 1. C; 2. C; 3. B; 4. D; 5. A 1. The assessment on the part of the nurse should include all of the following EXCEPT A.an evaluation of sleep and appetite. B.an assessment of familial risk. C.encouragement of prenatal testing. D.identification of coping strategies. 2. Genetic testing for bipolar disorder A.is 9% effective. B.is 40% effective. C.requires two allelic variations to be present. D.is ineffective. Answers: 1. C; 2. D

Section questions chapter 7

1. Principles of single gene disorders or Mendelian disorder utilize the same principles of inheritance of other traits such as height and eye color. A.True B.False 2. Mendelian inheritance disorders or monogenic disorders are germline mutations passed onto the next generation, and they never result from spontaneous mutations. A.True B.False 3. A single gene is usually defective, which is why single gene disorders are often referred to as monogenic disorders. A.True B.False Answers: 1. A; 2. B; 3. A 1. NF1 is considered a fully penetrant disorder and does not skip generations. A.True B.False 2. Myotonic dystrophy is a cause of neonatal hypertonia. A.True B.False 3. Marfan stigmata are inclusive of skeletal anomalies, myopia, and aortic valve disorders. A.True B.False 4. If a condition skips generations it may be due to reduced penetrance. A.True B.False 5. Anticipation of disease shows decrease severity of symptoms and later onset. A.True B.False Answers: 1. A; 2. B; 3. A, 4. A; 5. B 1. PKU is a condition that can impact the neurologic function of a child. A.True B.False 2. Most autosomal recessive disorders present in adulthood. A.True B.False 3. The newborn screen only tests for PKU and congenital hypothyroidism. A.True B.False Answers: 1. A; 2. B; 3. A 1. Y-linked disorders have severe clinical significance and are fatal. A.True B.False 2. Because of X-inactivation in females, X-linked disorders can have a diverse presentation. A.True B.False 3. Hemophilia A and B will not benefit from gene therapy because a large amount of factor in the plasma is required to have beneficial results. A.True B.False 4. X-linked dominant disorders in males are often lethal. A.True B.False Answers: 1. B; 2. A; 3. B; 4. A 1. Homoplasmy refers to the presence of more than one mutation in the mitochondria. A.True B.False 2. Most of the human genome is subject to imprinting. A.True B.False 3. In X-linked inheritance, germline mosaicism does not need to be considered. A.True B.False 4. In uniparental disomy, the child inherits both copies of a chromosome pair or chromosome region from the same parent instead of one copy of a chromosome pair. A.True B.False 5. Fragile X is the most common hereditary disorder that is associated with mental retardation. A.True B.False Answers: 1. B; 2. A; 3. B; 4. A; 5. A 1. Nurses in maternal-child surroundings may be the initial health care provider to suspect a pediatric patient with a genetic condition. A.True B.False 2. Parents who have a child diagnosed with a hereditary disorder may feel symptoms of grief and loss. A.True B.False 3. Name some clues in a nurse's assessment and physical exam of patients that may alert to a hereditary genetic disorder.A. Answers:1. A; 2. A; 3. Mendelian genetic disorder, but not inclusive would be consanguinity, abnormal fetal ultrasound, cutaneous disorders, hyptonia, seizure, growth abnormalities, developmental delays, and abnormal newborn screens.

Chapter 2 sections

1. Regarding health promotion and disease prevention practices, the registered nurse should A.consider genetic and genomic influences pertaining to personal and environmental risk factors. B.incorporate knowledge of genetic and/or genomic risk factors into the care plan of the client/patient. C.explain to the client/patient how she or he would handle the situation if she or he were in their shoes. D.All of the above E.A and B, above 2. The registered nurse should facilitate referrals for specialized genetic and genomic services for clients as needed. A.True B.False 3. It is acceptable for a registered nurse to ignore a client's decisions/decision-making process if the client's decisions or process are counter to the nurse's religious and/or cultural beliefs. A.True B.False Answers: 1. E; 2. A; 3. B 1. What types of nurses are the competencies in Section Two most relevant to compared to the kinds of nurses and the competencies in Section One? 2. Nurses who perform PCH-related activities need to be very knowledgeable about the structure and function of relevant local, state, and national public and private health agencies and organizations. A.True B.False 3. Nurses who perform PCH-related activities need to be very knowledgeable about access to accessible, available, high-quality, culturally competent, community-based, family-oriented, affordable, effective, and efficient services and education of clients, families, and communities. A.True B.False Answers: 1. The competencies in Section One are aimed at all registered nurses while the competencies in Section Two are aimed more so at those who participate in PCH-related activities; 2. A; 3. A.

Chapter 13 sections

1. The family health history has become the most important primary tool in diagnosing and assessing risk of genetic diseases. A.True B.False 2. A woman is considered "advanced maternal age" and her risk of having a child with Down syndrome increases at what age? A.25 B.35 C.45 D.None of the above 3. The Surgeon General chose Thanksgiving Day as National Family History Day for all of the following reasons EXCEPT A.it is a day when families gather together. B.family members can discuss their wills. C.family members can discuss and record health problems. D.families can organize their family history. 4. One of the problems with the family history tool is that A.it can be used and maintained on the Internet. B.genetic specialists feel that it is underused in primary care. C.some family members may be deceased. D.the nurse will have to review the document with the individual or family. 5. A barrier to obtaining a family health history is A.a husband can report his wife's medical history. B.a mother can recall her labor and delivery experience. C.a family member may not be forthcoming with his health history. D.a family member may not be able to recall his immunizations. Answers: 1. A; 2. B; 3. B; 4. B; 5. C 1. In order to protect confidentiality, the birth year rather than the entire birth date of an individual is used in a pedigree. A.True B.False 2. A horizontal line in a pedigree indicates A.a relationship. B.a generation. C.consanguinity. D.adoption. 3. The paternal section of a pedigree should go on the right and the maternal section should go on the left. A.True B.False 4. An illustration used to predict the likelihood of inheriting a particular genetic trait or disease is called a A.pedigree. B.karyotype. C.Punnett square. D.dihybrid cross. 5. The horizontal line in a pedigree connects vertically to a second horizontal line that displays the . A.marriage. B.grandparents. C.sibship. D.adoption. Answers: 1. A; 2. A; 3. B; 4. C; 5. C •1. Obtaining a comprehensive health history is a standard competency required of all nurses. A.True B.False •2. In working with clients who are seeking genetic information and/or counseling, nurses need the following skills EXCEPT 1.communication. 2.education. 3.decision making. 4.diagnosing. •3. The National Coalition for Health Professional Education in Genetics and the American Nurses Association lists the following expected competencies for nurses EXCEPT 1.obtaining a family history. 2.constructing a three-generation pedigree. 3.ordering specific genetic tests. 4.facilitating referrals for specialized genetic services. •4. It is the nurse's responsibility to inform family members of genetic risks. A.True B.False •5. A Genetics Clinical Nurse (GCN) is a registered nurse with a baccalaureate degree who has specialized education and training in genetics. A.True B.False Answers: 1. A; 2. D; 3. C; 4. F; 5. A

Section chapter 24

1. The initial goal of the Human Genome Project was to A.map and sequence the entire human genome. B.map and sequence the genomes of nonhuman species. C.find the cure for dementia. D.find the cure for cancer. 2. All of the following genes are associated with Early Onset Alzheimer disease, EXCEPT A.Amyloid Precursor Protein. B.Lamin A/C. C.Presenilin 1. D.Presenilin 2. 3. Which of the following conditions represents an extreme aging phenotype? A.Dementia B.Age-related macular degeneration C.Age-related hearing impairment D.Hutchinson-Gilford progeria syndrome Answers: 1. A; 2. B; 3. D 1. The situation in which individuals at risk for a condition of interest die from other causes before reaching the age at which they otherwise would have developed a disease, is called A.historical effects. B.premature death. C.age-censoring. D.phenotype. 2. Which of the following terms is a visual depiction of family health history and biologic relationships using a standard set of symbols? A.Pedigree B.Phenotype C.Genogram D.Genotype 3. All of the following things can be assessed through the interpretation of a family history recorded as a pedigree, EXCEPT A.patterns in ages of disease onset. B.Mendelian patterns of inheritance. C.presence of known genetic conditions. D.social relationships. Answers: 1. C: 2. A; 3. D 1. Specialty genetic providers typically provide all of the following services, EXCEPT to A.review and refine the comprehensive health and family health history. B.request medical records to verify diagnoses. C.assume responsibility for ongoing primary care. D.provide a follow-up summary letter to primary care providers. 2. All of the following resources may be helpful in identifying local specialty genetics providers EXCEPT? A.State Department of Public Health B.Local tertiary care facilities C.National Society of Genetic Counselors D.The Human Genome Project website 3. Which of the following activities is a responsibility of professional practice as a nurse generalist? A.Collecting a comprehensive family health history B.Providing genetic counseling about recurrence risks for early onset AD C.Performing genetic testing D.Independently interpreting the results of complex genetic tests Answers: 1. C; 2. D; 3. A 1. All of the following interventions are appropriate for the nongenetic-specialist nurse provider in relationship to genetic information, EXCEPT A.genetic counseling. B.education. C.emotional support. D.decision-making support. 2. Pharmacogenetics is the A.study of individual genes in relationship to health and their impact on relatively rare single gene disorders. B.study of the interaction between genetics and pharmacotherapy. C.academic preparation to become a clinical pharmacist. D.study of all genes in the human genome together, including their interactions with each other and with environmental influence. 3. Which of the following medications has an approved genetic test to help guide therapeutic dosing? A.Heparin B.Warfarin C.Insulin D.Digoxin Answers: 1. A; 2. B; 3. B 1. Evaluation of care is a professional responsibility related to the provision of genetics information and services. A.True B.False 2. All of the following are key client outcomes related to genetics health care services, EXCEPT A.satisfaction with care. B.client knowledge. C.sleep patterns. D.client coping. Answers: 1. A; 2. C 1. All of the following are key competencies to be achieved by today's gerontological nurse, EXCEPT A.collecting and interpreting family history data. B.recognizing the key characteristics of Mendelian patterns of inheritance. C.ordering a genetic test. D.providing emotional and decision-making support for clients who are considering genetic information. 2. All of the following are key competencies to be achieved by today's gerontological nurse, EXCEPT A.documenting outcomes of care related to genetics information. B.knowing sources of specialty genetics services in your county or state. C.recognizing indications for referral to specialty genetics services. D.providing risk counseling based on genetic test results. Answers: 1. C; 2. D

Chapter 4 sections

1. The process of RNA formation from DNA is called 1. transcription. 2. translocation. 3. translation. 4. protein synthesis 2. 2. The genetic code for the protein glycine is 1. GGA. 2. CCC. 3. AGU. 4. UCG. 3. 3. The number of amino acids is 1. 3. 2. 4. 3. 20. 4. 64. 4. 4. The completion of protein synthesis is signaled by a 1. break in a DNA strand. 2. lack of base pairs matching up. 3. mutation. 4. stop codon. Answers:1. A; 2. A; 3. C; 4. D Section Two 1. A change in genetic code that is a common spelling error is known as a A.mutation. B.translocation. C.polymorphism. D.structural anomaly. 2. The two copies of a gene found within a cell are known as A.mutations. B.polymorphisms. C.alleles. D.translocations. 3. Genes are comprised of A.proteins. B.chromosomes. C.mutations. D.mRNA. 4. The human genome is comprised of A.approximately 24,000 genes. B.over 100,000 genes. C.a great many mutations and errors. D.material that has very little in common with that of other living organisms. Answers: 1. B; 2. C; 3. A; 4. A 1. Which of the following is NOT considered a part of mitosis? A.Interphase B.Metaphase C.Telophase D.Anaphase 2. Which statement is true about G1? A.It lasts for the same length of time for all cells. B.It is the phase of the cell cycle where cellular metabolic activity occurs. C.It is when the chromosomes are most tightly coiled. D.It is when the centrioles divide. 3. The daughter cells resulting from mitosis are A.diploid. B.aneuploid. C.haploid. D.germ cells. 4. Cytoplasmic division into two cells occurs during A.interphase. B.cytokinesis. C.metaphase. D.telophase. 5. Chromosomal separation occurs during A.prophase. B.metaphase. C.anaphase. D.telophase. Answers: 1. A; 2. B; 3. A; 4. B; 5. C 1. Which cell division is considered the reduction division? A.Meiosis I B.Meiosis II C.Mitosis D.Interphase 2. The result of chromosomal nondisjunction can lead to A.monosomy. B.aneuploidy. C.triploidy. D.All of the above 3. Meiosis is the process by which A.cancer cells are allowed to duplicate unchecked. B.somatic cells divide. C.germ cells are formed. D.fertilization occurs. 4. At the end of the first meiotic division, each daughter cell has A.23 chromosomes. B.46 chromosomes. C.both an X and a Y chromosome. D.an unknown number of chromosomes. 5. The process by which genetic variation is created is called A.nondisjunction. B.cell division. C.asexual reproduction. D.crossing over. Answers: 1. A; 2. D; 3. C; 4. A; 5. D

Post test for chapter 4

1. The process of gametogenesis A.results in a diploid number of chromosomes in each cell. B.results in four spermatids from a single parent cell. C.results in sperm that all have a single Y chromosome. D.occurs only in males. 2. Down syndrome [trisomy 21] is most likely caused by A.chromosomal nondisjunction. B.environmental insults during gametogenesis. C.a family history of Down syndrome. D.maternal infection. 3. The longest part of the cell cycle is A.anaphase. B.telophase. C.metaphase. D.interphase. 4. Germ cells are formed during A.interphase. B.meiosis. C.mitosis. D.sexual arousal. 5. Unregulated cell division can result in A.obesity. B.cancer. C.Down syndrome. D.apoptosis. POSTTEST Answers: 1. B; 2. A; 3 .D; 4 .B; 5. B

Section questions chapter 8

1. The vascularity of the uterus increases and the endometrium becomes prepared for a fertilized ovum in which phase of the menstrual cycle? A.Menstrual B.Proliferative C.Endometrial D.Luteal phase 2. Fertilization usually takes place in the A.ovary. B.endometrium. C.ampulla. D.zona pellucid. 3. The process of capacitation involves A.separation of the sperm head from the tail. B.hardening of the zona pellucid to prevent other sperm from entering the ovum. C.rapid mitotic division. D.removal of the sperm head plasma membrane. 4. Monoamniotic-monochorionic twins (twins that share an amnion and chorion) are associated with A.a fetal mortality of 50%. B.a higher rate of congenital anomalies. C.a higher risk of adverse outcomes. D.All of the above 5. Dizygotic twins A.share the same phenotypes. B.do not share the same phenotypes. C.are always the same gender. D.share the same placenta. Answers: 1. B; 2. C; 3. D; 4. D; 5. B 1. Based on when fertilization occurs, the developmental stage that takes place between gestation week 9 through week 38 is called the stage. A.embryonic B.fetal C.organogenesis D.primordial 2. The three germ layers from which all tissues and organs develop are all of the following EXCEPT A.the primary germ. B.the ectoderm. C.the endoderm. D.the mesoderm. 3. The fetal heart begins to beat in which gestational week (following fertilization)? A.2 B.3 C.4 D.6 4. All internal and external structures are present in the fetus by which week? A.6 B.8 C.12 D.18 5. During week 5 the extensive growth of the head exceeds the rest of the body. This is caused by A.enlargement of the bones. B.an increase in maternal hormones. C.the rapid growth of the brain and facial structures. D.an increase in the size of the placenta. Answers: 1. B; 2. A; 3. B; 4. C; 5. D 1. Based on when fertilization occurs, the developmental stage that takes place between gestation week 9 through week 38 is called the stage. A.embryonic B.fetal C.organogenesis D.primordial 2. The three germ layers from which all tissues and organs develop are all of the following EXCEPT A.the primary germ. B.the ectoderm. C.the endoderm. D.the mesoderm. 3. The fetal heart begins to beat in which gestational week (following fertilization)? A.2 B.3 C.4 D.6 4. All internal and external structures are present in the fetus by which week? A.6 B.8 C.12 D.18 5. During week 5 the extensive growth of the head exceeds the rest of the body. This is caused by A.enlargement of the bones. B.an increase in maternal hormones. C.the rapid growth of the brain and facial structures. D.an increase in the size of the placenta. Answers: 1. B; 2. A; 3. B; 4. C; 5. D 1. The time in which a fetus is most vulnerable to malformations during the first 8 weeks of pregnancy is called the A.malformation period. B.pre-embryonic period. C.significant period. D.critical period. 2. The skin covering on the fetus, which is made up of fatty secretions from sebaceous glands and epithelial cells, is called A.vernix caseosa. B.lanugo. C.meconium. D.amnion. 3. Genetic and environmental causes of congenital anomalies are called A.environ-genetic inheritance. B.multifactorial inheritance. C.chromosomal inheritance. D.multiple gene inheritance. 4. A teratogen can be all of the following EXCEPT A.prenatal vitamins. B.maternal disease. C.medications. D.infection. 5. Chromosomal abnormalities and DNA mutations have been associated with advanced paternal age. A.True B.False Answers: 1. D; 2. A; 3. B; 4. A; 5. A 1. Components of preconception counseling include all of the following EXCEPT A.family history. B.history of preexisting conditions. C.partner's educational background. D.partner's medical history. 2. Prenatal care should ideally begin A.before the first missed menstrual period. B.after the first missed menstrual period. C.after the second missed menstrual period. D.after the third missed menstrual period. 3. Prenatal care is more than just health care. A.True B.False 4. Which of the following statements in NOT true about pregnancy loss? A.Fifty percent of pregnancies end in spontaneous abortion. B.Most cases of pregnancy loss are sporadic. C.Advance maternal age is associated with an increased risk of aneuploidy. D.Consanguinity is not considered a factor in fetal loss. 5. Recurrent fetal loss A.includes only losses when a genetic abnormality has occurred. B.does not require examining a parent's karyotype. C.is defined as having three pregnancy losses and no more than one live birth. D.has nothing to do with maternal or paternal age. Answers: 1. C; 2. B; 3. A; 4. D; 5. C

Section questions chapter 1

1. Watson and Crick A.described the structure of DNA B.were the fathers of genetic science. C.developed the human genome. D.worked in the science of eugenics. 2 Eugenics A.is the basis of human variation. B.provides us with valuable information about the superiority of one race over the other. C.is a current theory of human evolution. D.provided the rationale for the inappropriate treatment of those who had developmental disabilities. 3 The father of human genetics was A.Adolph Hitler. B.Gregor Mendel. C.James Watson. D.Francis Collins. Answers: 1. A; 2. D; 3. B 1. The work of the Human Genome Project A.created the rationale for genetic determinism. B.provided us with the basis for personalized health care. C.dictates which drugs will be most effective in treating cancer. D.allows scientists to prove which individuals are healthiest. 2. Pharmacogenomics will allow health care providers to A.avoid prescribing medications that have any side effects. B.tailor drug therapy to enhance drug effectiveness. C.decrease the number of medications an individual needs. D.decrease the cost of medications. 3. One of the uses of genetic testing is A.to totally prevent the transmission of genetic conditions. B.to provide information to individuals so they can make decisions about their personal health. C.to tell people how to lead healthy lives. D.to help people focus on the genetic basis of all illness. Answers: 1. B; 2. B; 3. B 1. The essential competencies for nursing practice in genetics/genomics A.were endorsed by over 40 professional nursing associations. B.were developed by geneticists who were experts in the field. C.are required by accrediting organizations. D.apply only to those nurses who specialize in genetics. 2. Those nurses who are required to have basic genetic literacy include A.advanced practice nurses. B.nurses who practice in specialty areas. C.nurses who practice in medical-surgical nursing. D.all nurses, regardless of practice area, clinical specialty, or level of education. Answers: 1. A; 2. D

Chapter 10 sections

1. Which of the following is an example of imprinting? A.Duchenne muscular dystrophy B.Factor V Leiden C.Prader-Willi syndrome D.Tay-Sachs 2. Autosomal dominant is an example of which inheritance pattern? A.Anticipation B.De novo C.Imprinting D.Mendelian 3. Which of the following is true about recessive characteristics? A.One gene copy is necessary for the characteristic to occur. B.Two gene copies are necessary for the characteristic to occur. C.The characteristic will never cause a problem. D.The characteristic exists only in a carrier state. 4. Screening refers to A.genetic testing for a disease already known to be present. B.testing done to determine if there is a potential increased chance for a disease. C.a diagnostic tool that confirms a disease is present. D.a nursing assessment. 5. Preconception health counseling is A.health education done before, during, and after a pregnancy. B.health education done before and/or after a pregnancy. C.health education done during the pregnancy. D.health education done only for women. Answers: 1. C; 2. D; 3. A; 4. B; 5. B 1. Population-based screening is done on individuals who A.have a history of the disease for which the screening is aimed. B.have no history of the disease for which the screening is aimed. C.have symptoms of the disease for which the screening is aimed. D.have both a history and symptoms of the disease for which the screening is aimed. 2. refers to a test's ability to accurately predict those who are not at risk for a specific condition and who therefore do not need further diagnostic testing. A.Accuracy B.Reliability C.Sensitivity D.Specificity 3. refers to the test's ability to identify those who are at risk for the condition, and therefore need more in-depth diagnostic testing. A.Accuracy B.Reliability C.Sensitivity D.Specificity 4. Triple screen includes all of the following EXCEPT A.hCG. B.INH-A. C.MSAFP. D.uE3. 5. A carrier is a person who has one copy of the gene and A.exhibits no symptoms for the gene of interest. B.exhibits symptoms for the gene of interest but no disease. C.exhibits symptoms of the disease associated with the gene of interest. D.knows at some point the gene will cause illness in them. Answers: 1. B; 2. D; 3. C; 4. B; 5. B 1. Diagnostic tests are used to A.detect problems in individuals believed to have a condition. B.detect problems only in individuals who show no symptoms. C.detect only problems prenatally. D.detect problems only if screening has been done. 2. Pre-implantation genetic diagnosis involves A.an embryo already in the womb. B.an embryo before it has been placed in the womb. C.informed consent always. D.cost considerations. 3. Choronic villus sampling can be done A.earlier than amniocentesis. B.later than amniocentesis. C.any time during the pregnancy. D.after birth. 4. Ultrasound testing is used to detect A.chromosomal analysis. B.karyotype changes. C.structural anomalies. D.changes in DNA. 5. Fetal gender can be determined by A.amniocentesis. B.choronic villus sampling. C.karyotyping. D.changes in DNA. Answers: 1. A; 2. B; 3. A; 4. C; 5. C 1. Genetic testing can determine paternity, which in turn can lead to A.unintended consequences of revealing a father other than the mother's partner. B.ethical dilemmas about how this information should be released. C.misinterpretation of the results. D.All of the above 2. Issues of getting pregnant to produce a child for tissue transplants is A.a personal decision. B.a potential legal liability. C.always an ethical dilemma. D.should never be done. 3. Understanding the mother and/or father's culture is important for genetic testing. A.True B.False 4. Prenatal testing can determine the severity of the fetal condition without question. A.True B.False 5. The nurse's role in prenatal testing unless certified as a Genetic Nurse or Counselor is to A.interpret the results. B.analyze the genetic risk. C.emotionally support the mother and/or father. D.ensure that no ethical dilemmas occur. Answers: 1. D; 2. B; 3. A; 4. B; 5. C 1. Preconceptual education is important because A.many pregnancies are unplanned; therefore, risks are undetermined. B.a woman needs to know about genetic risks prior to pregnancy. C.it promotes a healthy lifestyle in light of genetic risks. D.All of the above 2. Prenatal testing is always covered by health insurance. A.True B.False 3. The role of the nurse in prenatal testing and screening unless certified or educated as a genetic nurse specialist/counselor is as a(n) A.advocate. B.diagnostician. C.genetic counselor. D.practitioner. 4. Internet resources with health information are generally reliable. A.True B.False 5. Ethical decision making is part of the management of a woman undergoing prenatal testing and screening. A.True B.False Answers: 1. D; 2. B; 3. A; 4. B; 5. A

Amniotic membrane/fluid

7 and 12 weeks gestation, amniotic fluid increase causing amnion to enlarge and bring the amnion and chorion together Form the amniotic sac Several functions •■ act as a shock absorber and cushion the fetus against severe injury. •■ act as a barrier to infection because it inhibits bacterial growth. •■ maintain a relatively constant temperature, thereby controlling the temperature of the fetus. •■ prevent adherence of the amnion to the fetus, thereby providing a medium in which the fetus can move freely. •■ provide essential enzymes for fetal lung development. •■ prevent compression of the umbilical cord. •■ allow for analysis of fetal tissue and fluids. Amniotic fluid is made up of maternal interstitial fluid by diffusion Amniocentesis - alpha fetoprotein (AFP) is a glycoprotein of fetal origin and is present in the fetal and maternal blood during pregnancy. Becomes a routine screening for prenatal diagnosis of neural tube defects and other fetal malformations High levels of AFP can indicate neural tube defects such as spina bifida /low levels of AFP can indicate Down Syndrome By 11th week, karyotyping from amniotic fluid can be performed

Normal Growth and Development

9 to 12 weeks: Can swallow and make respiratory Can curl fingers to make fist Genitalia are easily distinguishable Kidney begin producing urine Heartbeat can be heard - 120 to 160 bpm 13 to 16 weeks: Fine hair called lanugo forms on head Ossification of fetal skeleton is active Not yet felt by mother Reflex response and muscular activity begin Fetus opens mouth, makes sucking motion and swallows amniotic fluid Produce meconium in intestines In females, ovaries differentiate and contain primordial follicles 17 to 20 weeks: Limbs in proportion fo the rest of body Fetal movement can be felt by mother (quickening) Skin is now covered by vernix caseosa (cream cheese covering) Lanugo is present all over the body Uterus is formed at 18 weeks At 20 weeks myelination of spinal cord begins Testes begin to descend for male fetus IgG fetal antibodies can be detected 21 to 25 weeks: Skin is wrinkled and translucent pink red due to blood capillaries - little SubQ fat Bone marrow begins to make RBC Fetus has hand grasp and startle reflex Rapid eye movements begin IgG levels reach maternal levels Interalveolar walls of lungs begin to secrete surfactant at 24 weeks 26 to 29 weeks: Vasculature of lungs developed to provide gas exchange CNS is mature enough Eyelids open and close In males, testes descend into the inguinal canal and upper scrotum 30 to 34 weeks: Rapid increase in body fat and muscle CNS is developed enough to maintain body temperature Lungs still not fully mature Papillary light of eye is present at 30 weeks More reflexes are present Fetus begins storing calcium, iron and phosphorous 35 to 36 weeks: Exhibits spontaneous orientation to light Strong grasp reflex 37 to 40 weeks: Considered to be full term 38 to 40 weeks Males - testes are in scrotum Females - labia majora is well developed CNS developed enough to carry out some intergrative functions L/S ratio is approaches 2:1 indicating lung maturity

Critical Thinking Checkpoint chapter 1

A newly graduated professional nurse is working on a busy medical-surgical unit. She has a postoperative patient who is at risk for thrombus formation. This patient, who currently is receiving low-dose molecular heparin, is scheduled to be discharged on warfarin (Coumadin) therapy. The nurse has heard of the importance of genetic testing before implementing Coumadin therapy, but there are no such medical orders for this testing. How should the nurse proceed? ANSWERS The nurse should be aware that such genetic testing is the current standard of care. The nurse should contact the prescribing physician to determine whether he wishes to order the testing. The hospital pharmacist may be a valuable source of information for the physician.

Question 4

A red flag in a family health history would include all of the following EXCEPT: A. several relatives who are affected with the same disease B. early, sudden death of an individual C. a disorder that occurs later in life D. a child whose parents are closely related Answer is C

Twin and Family studies

A review of twin studies estimated that the heritable risk of BPD is 85%. Twin concordance is 40-45%. Etiologic factors associated with the development of the disorder remain unclear. It is possible that those not "diagnosed" with BPD may still show adverse effects due to genetic susceptibility. Genotype versus phenotypes

BDNF (brain-derived neutrophilic factor)

A second opinion is that the actual neurotransmitters are not the problem but brain structure is. BDNF is responsible for neuron survival. If it is repressed, cellular atrophy and death of vulnerable cells in the hippocampus may occur. The loss of these cells is thought to produce depression, often with recurrent episodes that become less responsive to treatment over time. Data from clinical imaging supports this theory, with decreased brain volume seen in related structures.

Brain Physiology

All mood disorders are thought to be due to disruption in the neurotransmitters: dopamine, serotonin and norepinephrine. The current theory on mood disorders relates that an imbalance or malfunction of all three of the neurotransmitters in different portions of the brain circuitry is the cause.

Critical thinking point

A.C. is a 41-year-old, Caucasian woman who is admitting her 65-year-old mother, diagnosed with Alzheimer disease, to the memory care assisted living wing in the long-term care facility in which you work. A.C. reports that her mother developed symptoms 8 years ago. She has been the primary caregiver of her mother at home for the last 5 years. 1.What element of this health history represents a red flag in relationship to the AD diagnosis? 2.Is a family history important in this case? If so, what type of information would be particularly relevant? 3.Are there any factors that put A.C. at risk for a genetic problem? 4.What is the role of the assisted living facility nurse in this scenario? 5.What follow-up care would be necessary? CRITICAL THINKING CHECKPOINT ANSWERS 1.The ages at onset for a common complex disease that are earlier than usual is a red flag in a personal or family health history. In this case, early onset of Alzheimer disease (before age 60) suggests that the Alzheimer disease may have a strong genetic component in this family. 2.Family history is an important part of every nursing assessment. However, in this case, the family history is essential in order to follow up on the early age at onset red flag. The family history should be expanded to include three to four generations in order to answer the following questions: a) Are there other family members who have been diagnosed with Alzheimer disease? b) If so, is there a discernible pattern of inheritance? For example, are there multiple affected individuals across multiple generations? c) What are the ages at onset for other affected family members? 3.The fact that A.C.'s mother has early onset Alzheimer disease, a condition that is known to have a strong genetic component in some families, is a risk factor. Other risk factors would be clarified by obtaining a complete family history. 4.Every nurse, in every role and setting, is responsible for identifying persons at risk for having or transmitting a genetic condition and for making appropriate referrals, if indicated. In this setting, the nurse should complete a comprehensive (or at least targeted) family history in order to gather additional risk information and provide A.C. with knowledge about the availability of specialty genetics services. 5.If this family were to pursue specialty genetics services, the nurse is in a position to play an advocacy role for the family in seeking these services and in providing follow-up decision making and emotional support.

What Affects Medications?

Age - children versus adults versus older adults Race - african americans are susceptible to certain antihyperstensive drugs and asians need much lower dose of medications BMI - bigger you are, more drug you need Drug-Drug Interactions - antidepressant and tums that prevent the stomach from absorbing the meds Metabolism - people with higher metabolism need a higher dose Pregnancy - how it affect the fetus Lifestyle Factors - some metabolize quicker or not or even compliance issues

Hallmarks of Cancer Development

Ability to sustain chronic proliferation. Ability to evade growth suppressors. Ability to resist cell death. Ability to support replication immortality. Ability to induce angiogenesis. Ability to activate invasion and metastasis. Ability to reprogram energy metabolism. Ability to evade destruction by the immune system.

Dysplasia

Abnormal development of tissue that often affects several organs.

Genetic Links to Substance

Abuse Opiates and Polysubstance Abuse We know there are adaptive changes to the central nervous system but have not identified any responsible genes. Alcoholism Genetic links to alcoholism are the priority research focus now due to the fact that adoption and twin studies have shown patterns of familial occurrence. No genes have been identified at this time related to alcoholism. Obviously, finding them could lead to tremendous changes in treatment of alcoholism or prevention! Nicotine We can see genetic differences in those who are heavy smokers and prefer menthol cigarettes and those that do not.

Nursing implications

Accurate family history and exam remains the fundamental instrument for nurses to use in patient care. A family pedigree should be used in the family history and assessment. The maternal-child nurse will need to have knowledge related to inheritance patterns and diseases to provide competent care to families.

Trisomy

Addition of one chromosome 2n+1 Example: Trisomy 21 (Down's Syndrome)

Tetrasomy

Addition of two chromosomes 2n+2 Example: Pallister-Killian Syndrome

Critical thinking

After appropriate informed consent, Susan is screened for cystic fibrosis early in her pregnancy, and the test results indicate that she is a carrier for a common cystic fibrosis mutation. You share the results with her, and suggest that the next step would be to have her husband tested. She tells you that this pregnancy is a result of an extramarital affair. Her husband believes that he is the father, and the man with whom the affair occurred is not aware that he fathered Susan's baby. 1. What are your responsibilities to Susan? 2. Should you inform her husband that he is not the baby's father? 3. Do you have a responsibility to tell the baby's father of the situation so that he can be tested? If he agrees to be tested, whose insurance is responsible for paying for the test? 4. Do you have any obligation to the fetus? CRITICAL THINKING CHECKPOINT ANSWERS 1.Susan is your patient, so your responsibilities are to her. 2.It is up to Susan to share the information about the paternity with her husband. You also should inform Susan that she can elect amniocentesis to determine the genetic status of the baby. 3.The question of insurance coverage for the genetic testing for the nonmarital partner is dependent on his particular coverage and is not easily determined. 4.The question of legal obligation to the fetus may depend on state law determining personhood. Also remember the story of Henrietta Lacks

Deformation

An alteration in form or shape resulting from mechanical forces and occurs in otherwise healthy tissue. Example: when we used forceps to pry the baby out of the birth canal, the baby is fine but the head is squished now.

Question 10

An example of an application of epigenetics in therapy is: A. Using TCF7L2 genotype to predict response to sulfonylurea medications. B. Adding genes for cholesterol metabolism to CVD risk calculators. C. Using DNA methyltransferase inhibitors to treat cancer. D. All of the above. Answer is C

Numerical Sex Chromosomal Abnormalities

An extra or missing X or Y chromosome. Most are not diagnosed until puberty. Example: Turner Syndrome, Klinefelter Syndrome, and Jacob's Syndrome. Because of your secondary sexual characteristic are coming in

Mosaicism

An individual may have different cell lines in a particular tissue of the body occurring during an error in mitosis after fertilization of the zygote. Occurs in somatic tissue or germ cells. depicts the existence of cells that differ in their genetic constituent from other cells in the body. This occurrence would result in a person composed of two or more different cell lines. Example: Trisomy 21 (Down's Syndrome), hemophilia

Numerical Chromosomal Abnormalities

Aneuploids: an extra single or missing single chromosome. Example: Trisomy 13, 18 and 21. Becomes more frequent as maternal age increases.

The Elderly and Natural Aneuploidy

Aneuploidy may reflect age-associated decay in other cell mechanisms. Aneuplodic Theory of Cancer Do changes in protein regulation cause a change in cellular mechanisms and ultimately affect tumor suppressive elements?

Overview of aneuploidy

Aneuploidy: the process through which there has been a change in the number of individual chromosomes or chromosomal segments. Addition of chromosomes is referred to as trisomy or tetrasomy. Subtraction of chromosomes is referred to as monosomy or nullisomy. Aneuploidy can effect autosomes or sex chromosomes. Incorrect number of chromosomes and occurs during meiosis Trisomy - addition of a single chromosome making three Tetrasomy - addition of two homologous chromosomes making four Nullisomy - loss of two chromosomes Monosomy - loss of a single chromosome

Epigenome: DNA Methylation

Associated with a large number of human malignancies due to either hyper- or hypomethylation. In cancer cells gene promoters are hypermethylated and their corresponding genes are transcriptionally downregulated resulting in gene silencing. This results in the loss of a tumor suppressor allele. Global genomic hypomethylation leads to genomic instability, oncogene activation and tumor progression.

Pulmonary Disease

Asthma: More than one hundred genes have been examined as candidate genes. PDE4D (phosphodiesterase 4D) is involved in airway smooth muscle response and contractility. Aminophylline used to treat bronchoconstriction is a PDE4D inhibitor. COPD: Alpha1-anitrypsin deficiency is the only known monogenetic cause. It is autosomal recessive. It is encoded by SERPINA1.

Cancer Genes

At this time 465 cancer genes have been catalogued. (starting on page 221 do not need to know it) 90% have been shown to exhibit somatic mutations, 20% show germ line mutations and 10% show both. (This equals 120%...... Don't ask me.) Germline Inheritance in known in BRCA1 and BRCA2 (breast and ovarian CA). Mutations can be caused by Epstein Barr, HPV, HBV and human herpes virus 8.

Treatment

At this time there is no genetically based treatment for substance abuse. We are still reliant on typical psychosocial therapies. RFLPs: restriction fragment length polymorphisms Markers from fragments of DNA that we are currently using to identify and localize genes involved in a disease process.

Ethical Principles

Autonomy Beneficence Capacity Competency Distributive Justice Fidelity Informed Consent Justice Non-maleficence Self-determination Surrogate

Critical thinking

Baby Girl M. is the 34-week gestation infant admitted to the NICU for low blood sugar and breathing difficulties. Upon admission of the infant, you are told that the mother refuses newborn screening along with vitamin K and ophthalmologic prophylaxis. 1. What is your responsibility as this patient's nurse as it pertains to the newborn screen? 2. Under what circumstances is it appropriate for the mother to decline the newborn screen? 3. How do you communicate your nursing interventions to others when a mother declines the newborn screen? 4. If the mother in this scenario changes her mind, when should the newborn screen be obtained and what is the method for obtaining the newborn screen? CRITICAL THINKING CHECKPOINT ANSWERS 1.The United States recognizes parents as the proper surrogates for their children. This viewpoint comes from the presumption that, above all, parents want what is best for their child and understand better than anyone the traditions and conditions of the world in which the child will be raised. Thus, it is not appropriate to simply document that the mother has declined the newborn screen. It is the responsibility of the health care provider to determine the reasons why the mother declined, and to offer education when applicable. Re-education gives the health care provider the opportunity to provide factual information regarding the benefits and limitations of early detection through newborn screening. It also allows the mother a chance to reconsider her decision. Moreover, it is not appropriate to obtain the newborn screen when the mother declines. The traditions and laws of most countries, including the United States, recognize parents as the surrogate decision makers for their own children. Given this widely recognized parental authority, it is rare that anyone is given the authority to bypass the parents' decision or to overrule their decisions. 2.In some circumstances it may be appropriate for the mother to decline newborn screening for her infant based on religious beliefs. Regardless, every attempt should be made to adequately educate the parent about the benefits and limitations of the newborn screen. 3.When the parent declines a newborn screen, nurses and other health care providers should document the following in the infant's medical record: a.Discussions between the parent and health care provider, as the discussions pertain to the newborn screen. b.Efforts made to provide factual information to the parent, including the use of information sheets or pamphlets about the newborn screen. Furthermore, some states have special forms that need to be completed when a parent declines the newborn screen. 4.If the parent consents to the newborn screen, the first blood sample is obtained from the infant's heel between 24 and 48 hours of age and the special filter paper is impregnated with the infant's blood. The filter paper is then sent to the newborn screen laboratory for analysis. Additional newborn screens may be required if the infant is ill at the time when the newborn screen is obtained.

Question

Barriers to implementing PGx testing in clinical practice are: A. whether PGx testing services are available. B. whether enough is known to interpret obtained test results. C. Whether practitioners are trained in PGx. D. All of the above. E. A and C above. Answer is D

Implantation

Blastocyst imbeds itself into the endometrium Trophoblast connects with the endometrium for more nourishment until it becomes the chorionic villi Endometrium increase in thickness and starts the proliferative phase Endometrium - decidua Decidua capsularis - covers the blastocyst Decidua basalis - under the implanted blastocyst that becomes the maternal part of the placenta Decidua vera - part that lines the uterine cavity Chorionic villi connect with the deciduas basalis to form the fetal part of the placenta

Interferons -

Body's natural defense response to foreign components such as viruses and bacteria Belong to a class of glycoproteins known as cytokines Activation of immune cells (NK cells and macrophages) Recognition of infection or tumors cells by means of antigen presentation to T lymphocytes Enhancing the expression of specific genes Inhibiting cell proliferation Augmenting immune effector cells

Circadian Regulation

Circadian Rhythm is under regulation of the CLOCK gene which influences the transcription of other genes such as PER and CRY-1 and CRY-2. Genetic variance in these genes may be associated with the development of BPD. What symptoms of circadian rhythm disregulation are present in those with BPD? SNPs: Single nucleotide polymorphisms

Multifactorial Causation

Conditions inherited because of a combination of environmental and genetic factors. - Genomics The more affected family members there are, the more likely it is to occur in other members. Example: spina bifida and cleft lip/palate.

Genetic Factors Influencing Fetal Development

Critical period: the first eight weeks of development when the embryo is most susceptible to malformations caused by teratogens. There are four classes of congenital anomalies: malformation, disruption, deformation and dysplasia. Approximately 1:33 babies is born with a birth defect.

Genetics & Care of Patients with Mood Disorders

Currently there are no definitive genomic tests for diagnosis of mood disorders or medication management. The role of the nurse in incorporating gentics into psychiatric patients' care includes assessment, education and counseling about current and future possibilities that genomic research may provide for understanding the pathology, heritability and treatment of mood disorders.

New Mutation

De Novo: new spontaneous mutation An abrupt unforeseen condition that appears due to an error occurring during transmission of a gene. Due to increased age of the father and many mitotic divisions during the male's reproductive cycle Example: Duchene Muscular Dystrophy

Assessment

Demonstrate an understanding of the relationship of genetics to healthcare Demonstrate ability to elicit a multi-generation family history Construct a pedigree Collect personal histories Conduct a comprehensive assessment Critically analyze history Assess client's knowledge related to genetics Develop a plan of care incorporating genetic information

Ethical theories

Deontology - people should adhere to obligations and duties when analyzing ethical dilemma Utilitarianism - consequence of the actions - action you take should be the one for the greatest good Rights - society set forth and things are correct and ethical as long as the majority endorses it Casuist - you are looking at other dilemmas that were similar in the past and looked at their outcome and made a decision based on that Virtue - judging people on their typical behavior

X linked recessive

Determined by a genetic mutation on the X chromosome. The majority are recessive and almost exclusively seen in males. Women are mostly carriers and the trait is transferred from a series of female carriers; the affected males are directly related to one another through the females. The trait is passed from an affected father to his daughters and then to 50% of his grandsons. The trait is never transferred from father to son. Example: Hemophilia, Kallman Syndrome Most famous example would be the hemophilia gene in the Romanov family - It was inherited from Tsarina Alexandria who's grandmother is Queen Victoria of England causing her son, Heir to the Romanov Alexi to obtain it •The condition is apparent almost exclusively in males. •The trait is passed from an affected male to his daughters and then to 50% of his daughters' sons. •The trait is never directly transferred from father to son. •The trait is transferred from a series of female carriers; the affected males are directly related to another through the females

Genetics and Illness

Discuss high prevalence and high mortality. High prevalence - occurs more frequency High mortality - high rate of death Describe the role of genes in NIDDM. Diabetes type II - too many genes to narrow down but we are seeing a genetic connection Discuss a food diary. What they are eating and why they are eating Discuss how the Human Genome Project has changed the way we view/treat diseases. Why does our individual response to illness differ? Genotype and phenotype Because of the environment. We may have the same illness but our phenotype is different Discuss how nursing care planning is affected by genetics. Change the plan of care based on the genetics information that you receive 65 questions

Two hit theory

Dr. Alfred Knudson: retinoblastoma Two hits are necessary for cancer to present: on in the germ line that is inherited in every cell in the body and a second as a mutation later that would account for the loss of the nonmutated allele. If the cancer was not inherited (not in the germ line) than TWO random mutations were needed for the cancer to present. For example, the first hit is I inherited the gene for lung cancer in the germ line and the second hit is smoking

Question 1

Eugenics: A. is the basis of human variation B. provides us with valuable information about the superiority of one race over another C. is a current theory of human evolution D. provided the rationale for the inappropriate treatment of those who had developmental disabilities Answer is D

Penetrance & Expressivity

Expressivity: severity of expression of the phenotype (physical presentation) of a mutation among individuals with the same disease. Variable Expressivity: the variation among members of the same family with the same disease. Examples such as neurofibromatosis (NF1) and osteogenesis imperfecta (OI) Penetrance: the chance that a specific gene mutation inherited by an individual will display physical manifestations.

Referrals

Facilitate referrals for specialized genetic services

Routine Prenatal Screening

Family history and pedigree Population Based Screening Routine screening for individuals who may have or develop a disease To Identify those at high risk Outreach to those who have not sought medical attention for a disease Follow up and intervention to benefit the screened persons. Example: newborn screening and prenatal maternal serum alpha-fetoprotein (MSAFP)

Pre embryonic stage

Female reproductive cycle Ovarian and uterine cycle Ovarian: Follicular phase (days 1 to 14) FSH is released by the anterior pituitary due to the GnRH Follicle secretes estrogen Luteal phase (days 14 to 28) Mature graafian follicle appears LH cause final maturation of grassfian follicle and ovulation occurs Ovum is released near the fimbria of fallopian tubes Ruptured follicle undergoes changes and becomes the corpus luteum and secretes large amount of progesterone if pregnant. After 7 days, corpus luteum loses it function and shed if no fertilization occurs Uterine: Menstrual phase Shedding of the endometrium linings Proliferative phase Endometrium linings thicken due to increased amount of estrogen Secretory phase Endometrium become thicker and preparing for implantation Ischemic phase Few days before menses if no fertilization occurs Endometrium linings become necrotic and will later shed during the menstrual phase Ovulation occurs about 14 days prior to menstrual cycle

x inactivation

Females have to alleles for every gene on the x chromosome, whereas males have only one. During embryonic development, 75% of the genes on the x chromosome in each cell is inactivated and the remaining genes are expressed differently. How does this phenomenon affect x-linked genetic disorders? The selected genes, which are assigned as active versus nonactive in the offspring, are randomly inherited. Depending upon what genes are active in the two chromosomes, X-linked disease could have diverse presentations of the disorder in females due to the proportion of the cells that acquire the mutated allele on the active X chromosome This is epigenetics

Critical thinking

Figure 13-8 illustrates a family pedigree with a strong history of sickle cell disease. Emma is the proband; her parents are bringing her to the genetics clinic to determine if she has sickle cell disease. She is 3 weeks old but appears healthy and is thriving. The nurse begins by taking a family history and determining Emma's risk of having the disease. Family pedigree of sickle cell disease •. What mode of inheritance is sickle cell disease? •2. What are the characteristics of this mode of transmission? •3. It is determined that Emma does not have sickle cell disease. What are the chances that she is a carrier of the sickle cell trait? •4. Who else in this pedigree are probable carriers of the trait? Why? •5. Are there any other patterns of inheritance in this pedigree? What would be needed to determine if anyone was at risk for other diseases? •6. What is the role of the nurse once the pedigree has been created? CRITICAL THINKING CHECKPOINT ANSWERS 1.Sickle cell disease is an autosomal recessive trait. 2.Characteristics of an autosomal recessive trait are (a) the trait is expressed when two copies (homozygosity) of an autosomal allele are present; (b) individuals who have two different (heterozygous) alleles are carriers of the trait; (c) children born to parents who are carriers of the gene (heterozygous) have a 25% chance of having the disease, a 25% chance of not having the disease and not being a carrier, and a 50% chance of being a carrier; (d) males and females can be affected and can transmit the disease; and (e) the trait can skip generations. 3.Emma's mother has the disease and her father is probably a carrier because his mother has the disease also. Emma's risk of having the disease or of being a carrier can be determined using a Punnett square: Mother (ss) Father (Ss) s s S Ss Ss s ss ss 4. Emma could be an Ss = carrier and therefore have a 50% chance of being a carrier for the sickle cell gene. Or, Emma could be ss (affected) and therefore still have a 50% chance of having the disease—which we have already determined she does not. 5.Other possible patterns of inheritance include diabetes and cancer. To determine risk of other diseases we would need more information. More health and lifestyle information would be needed from all generations of this family before we could determine a true pattern of inheritance. 6.Once the nurse has collected as much individual and family health history as possible and once she identifies a pattern of inheritance or a mode of transmission, she will need to make the proper referrals. In this case, the mother and father may need preconception counseling should they decide to have more children. Otherwise, the nurse should refer the couple and other interested family members for genetic counseling.

Addiction

Have we singled out genes for addiction? No Describe characteristics of FAS. (fetal alcohol syndrome) They have developmental delays Facial features are inproportionate Mental retardation If people are addicted to many substances, how do we prioritize treatment? We don't priopritize, we treat it all at the same time

The nurse's role

Help clarify confusion after the physician has left the patient. Give the woman clear expectations of each test, what will occur and what recovery from the test should be like. Give clear examples of what complications from the testing present like.

Cancer Exemplar

Hereditary Breast and Ovarian Cancer Syndrome (HBOC) Mutations in BRCA1 and BRCA2 Genetic testing exists Women may choose to have preventative mastectomies and salpingo-oophorectomies. In high risk women use of tamoxifen has been shown to reduce the risk of invasive breast CA and oral contraceptives have been shown to reduce the risk of ovarian CA. We have identified the mutation, have the genetic testing and have preventative options. Goal is to do this with every single form of cancer.

Genetics of Mood Disorders

Heritability rate: 38% Concordance rate in identical twins: 70-90% Concordance rate in fraternal twins: 16-35% Currently there are 32 potential gene candidates associated with the development of mood disorders. And each of these genes may have several allelic forms.

Genes & Mania

Increased activity of glutamatergic neurons in the frontal cortex is shown through imaging. Glutamate is an excitatory neurotransmitter Disruptions in circadian regulation of this system could explain mood cycling. This can also be seen in variations with dopamine.

Genetic Documentation

How do we set up and calculate a Punnett Square? make a square with one gene on top and the another on the side and cross match it What do arrows signify in a pedigree? It signifies the person zero. The one we are created a pedigree for How do we document aneuploidy? How to document trisomy? 2N +1 Cite some reasons that pedigrees remain unfinished. People afraid to mention certain family business such as alcoholism No one may not know the answer How many generations should be present for accuracy in pedigrees? At least three generations What does age-censored mean? People died too young to live our their lives so you could assess them for certain inherited disorders

Genetic Testing

How is it paid for? insurance Discuss informed consent. Patient have to understand Nurses cannot do it. Doctors have to do it Have to know all of the risks Cant be impaired in any ways Make sure that the client understands the tests 100% In order to evaluate the client's understanding about the tests, we are making sure they understand the risks both of having the tests done and not having the test done and the exact types of the tests.

Newborns

How many conditions does the federal government demand we screen for? 30 Describe autonomy as an issue related to mandatory testing. There is none. An ethical principle that is being violated If the parent refuse, as a nurse you can talk to them about why we do it How would you describe uniparental disomy? Both copies came from the same parent and the parent was a carrier for the genetic disorder

Competencies

How may competencies were outlined for nurses? 27 competencies What is your primary task before working with genetic anomalies? Identified your belief systems before meeting with the patients Why some people get sick with flu shot and some people do? It depends on your genes and the environment

Critical thinking

How might knowledge about genetic linkages to a common disease change nursing interventions for patients with that disease? Knowledge about genetic linkages could illuminate understanding of pathophysiology, leading to design of more effective nursing interventions. In addition, it could inform nursing assessment and targeted screening, and influence patient teaching about risk factors and underlying cause of the common disease as well as influence monitoring for complications and side effects of therapie

Genetic Disorders

How would you describe an autosomal recessive disorder to your patient? Both parents are carrier and there is a 25% chance of having a child with the disorder Super rare recessive disorder - parent between first cousins (consanguinity) What is nullisomy and is it compatible with life? Complete loss of one pair of chromosome and no it is not compatible with life (for the purpose of the final, will not ask about autism) Discuss consanguinity. Relations between cousins and other family members Discuss aneuploidy. What systems does it primarily affect? change in the number of individual chromosomes or chromosomal segments. It affect with mental and cognition function. Why do some children with aneuploidy have some form of mental functioning and cognition issues? Most of those disorders involve rearrangement or addition or subtract of the chromosome that has to do with the formaiton of the brain and spinal cord

Cardiovascular diease

Hyperlipidemia: four genes have been studied because of their identified roles in regulating cholesterol levels. (PPP1R3B, SORT1, TTC39B, GALNT2). More than 100 genetic loci have been linked to hyperlipidemia. Hypertension: fourteen genetic loci are associated with hypertension. These are only associated with familial hypertension, not essential hypertension. Essential hypertension appears to be polygenetic.

Genetics and Nursing

ISONG and the ANA published scope and standard of practice for nurses related to genetic and genomic literacy regardless of level of education, specialty or site of practice. The AACN has identified genetics knowledge as an essential competency for BSN education. ISONG - The International Society of Nurses in Genetics ANA - American Nurses Association AACN - American Association of Colleges of Nursing Watch the movie Gattaca for eugenic and genetics

Identification

Identify clients who may benefit from specific genetic information or services Identify credible genetic information or services to give to clients Identify ethical/cultural issues related to genetics Define issues that undermine the rights of clients related to genetic decision making

Wilson & Jungner (1968)

If we do large population based screening, the following criteria need to be filled: The condition being screened for should be an important health problem The natural history of the condition should be well understood There should be a detectable early stage Treatment at an early stage should be of more benefit than at a later stage A suitable test should be devised for the early stage The test should be acceptable Intervals for repeating the test should be determined Adequate health service provision should be made for the extra clinical workload resulting from screening The risks, both physical and psychological, should be less than the benefits The costs should be balanced against the benefits

Privacy, Confidentiality and Informed Consent

If we test a family member for a specific genetic mutation and it comes back positive, do we inform the patient's parents who must also carry the gene? Are global routine informed consent forms appropriate for genetic testing? If a test requires members of the same family to be tested, whose insurance pays for it and who owns the results?

Implication to practice

Improving our ability to isolate and test for genes that are associated with diseases (causative or susceptibility). Improving our ability to provide anticipatory guidance about disease risk and/or progression to our clients. Providing the capacity to tailor or customize interventions (pharmacologic or nonpharmacologic) to an individual based upon their genotype or other risk profiles.

Genetic Testing in Newborns

In 2008, landmark legislation was passed that requires all states and the District of Columbia to screen every newborn for 30 serious genetic or functional disorders. Does this violate parents' or newborn's rights to autonomy? We are violating their rights because their parent do not consent to it and the child does not consent to it either. What do you think of this practice?

Causes

In general the causes of aneuploidy are not well understood. Carcinogens and toxins are believed to be associated with this. Nondisjunction: chromosomal abnormality that occurs during cell division. The cells do not separate during meiosis I.

Bloodwork

Includes prenatal maternal serum screening Example: This may pick up on neural tube defects (spina bifida and hydrocephalus) Triple screen: MSAFP, hCG, maternal serum unconjugated estriol (uE3) Quad screen: Also includes inhibin-A (INH-A)

Carriers

Incomplete Dominance Inheritance One allele is expressed while another one is suppressed. Red snapdragons (RR) mated with white snapdragons (rr) created PINK snapdragons. the heterozygous phenotype is intermediate between that of either homozygote. This results in a third phenotype or a combined phenotype, which is a blend of paternal and maternal traits. Familial hypercholesterolemia

Members of the Family

Infants/ Children: modified to the age of the child Document the mother's and father' sages at time of pregnancy Mother's health during pregnancy Prenatal care OTC meds, hormones and vitamins should be documented. Exposure to teratogens The physical labor and birth Feeding/ /eating habits Developmental milestones Physical development For death of an infant/ child: document when and why Please make special note of any adopted children Adolescents School performance and grades Learning disabilities Substance abuse Steroids Friends and social life School activities Sexual attitudes and behaviors Pregnancy Estimated date of delivery Details about current and previous pregnancies Attitudes about the pregnancy Physical symptoms Relationship status Exposure to teratogens Complete gynecological history Adult Present illness Past medical history Social/ Psychological history Reproductive History Surgical history All medications Recent screening tests Sexual History Family History The Surgeon General has declared Thanksgiving Day as National Family History Day. Relatives First degree: siblings, children and parents Second degree: nieces, nephews, aunts, uncles and grandparents Third degree: first cousins and great-grandparents

Immmunogenetics

International HapMap Project: A multi-nation partnership of scientists looking to find genes associated with human disease and response to pharmaceuticals. They have found that all multicellular organisms have innate immune systems. They speculate that the adaptive immune system is a more recent evolutionary development and is only found in vertebrates. They have found that the humoral immune system is capable of generating at least 10 billion structurally distinct antibodies. The human genome only 20-25,000 genes so it is evident at this times that a separate gene cannot be responsible for coding each antibody but for many.

Pharmacogenetics

It is known that 75-98% of observed individual variability in drug metabolizing is under genetic control. The Roche Amplichip CYP450 test is the only test currently available for matching phenotypes with common alleles. This test could be used to match patients to effective SSRIs. It is currently discouraged due to its great variability and cost ($300-$500).

Critical thinking checkpoint chapter 23

Jerome is a 14-year-old African-American male who came to the emergency department in sickle cell crisis. Jerome reports that the acetaminophen with codeine his pediatrician prescribed 2 days ago hasn't helped at all. An order is written to draw blood for a codeine PGx test. The hospital's website has brief descriptions of each test. It indicates that codeine is a pro-drug, and metabolism by CYP2D6 is needed to convert codeine to its active metabolite (which is morphine). 1.Based on Jerome's response, what type of CYP2D6 metabolizer do you expect him to be? 2.If Jerome had presented to the emergency department heavily sedated and with parent reports of apnea, what type of CYP2D6 metabolizer would you expect him to be? 3.What type of basic information does the patient need before his blood is drawn? 4.Is there any reason to do a family history in this situation? Why or why not? 5.Once the CYP2D6 result becomes available and the pain medication is selected and dosed based on the result, what genetic/genomics nursing competency should the nurse be able to demonstrate? CRITICAL THINKING CHECKPOINT ANSWERS 1.A poor metabolizer 2.An ultra-rapid metabolizer, causing an excessive proportion of each codeine dose to be metabolized to morphine 3.Types of information needed is why the test is being ordered, how the results might be used, and what are the limitations of the test. 4.Yes. A brief, targeted family history may identify other family members at risk for having poor response to codeine. Sickle cell is an autosomal recessive disorder. Therefore, Jerome may have a sibling with sickle cell who may require codeine or other opioid pain medications. Hydrocodone, oxycodone, and tramadol are also at least partially metabolized by CYP2D6. If any of Jerome's siblings do have sickle cell, it may be useful to them to have CYP2D6 testing done before crises so a medication plan can be developed ahead of time. 5.The nurse evaluates the impact and effectiveness of genetic and genomic technology, information, interventions, and treatments on a client's outcome.

Question 6

Justice as it relates to the newborn screen means: A. screening of infants is based on socioeconomic groups. B. screening of infants must be undertaken with fairness and equity. C. screening of infants is the result of undue influence or coercion. D. disproportionate screening based on maternal age. Answer is B

Critical thinking chapter 8

L.B. is a 28-year-old Caucasian woman who has polycystic ovarian syndrome and irregular periods. She recently discovered that she was pregnant. She went to her first prenatal visit and was diagnosed by ultrasound as being 11 weeks gestation. She tells the nurse that she has a family history of cleft lip—her younger brother and her uncle were born with cleft lip and palate. She also has a cousin who has Down syndrome. Two weeks ago she attended a wedding and drank three beers at the reception and later joined some friends in a hot tub. She stated that she sat in the hot tub for only 5 minutes because she started feeling nauseated. She is worried that she may have hurt her baby by drinking the beers. 1. What factors related to this pregnancy could put the fetus at risk? 2. Can testing be done to determine if the fetus has a cleft lip? If so, when? 3. What potential effect could the alcohol have on the fetus? 4. What topics should the nurse consider discussing with this woman? CRITICAL THINKING CHECKPOINT ANSWERS 1.Several factors could have put the fetus at risk including the alcohol and the hot tub. Both can be teratogenic during pregnancy. Also, more questions need to be asked in reference to L.B.'s family's history of cleft lip and Down syndrome. 2.There is no definitive test for cleft lip; however, an ultrasound scan for morphology can be done around 17-19 weeks gestation to determine if the baby has one. 3.In this case, the alcohol consumption is probably not going to have an effect on the fetus; however, if the mother continues to drink alcohol throughout her pregnancy it can cause fetal alcohol syndrome (FAS). A woman who consistently drinks alcohol during pregnancy has a 30% to 46% chance of having a fetus with long-term physical and mental defects (Lewis, 2008). It has never been determined how much alcohol is needed to cause harm so abstaining from all alcohol is recommended in pregnancy. 4.The nurse needs to discuss several topics with the woman about prenatal care and what she should expect during her pregnancy. The woman should be counseled on things such as avoiding hot tubs while pregnant; avoiding people with viral or bacterial infections; abstaining from alcohol, tobacco, or illicit drugs; checking with the physician before taking any medications; avoiding cleaning cat litter pans and bird cages during pregnancy; avoiding eating fish known to contain heavy metals such as mercury; eating a well-balanced diet and taking prenatal vitamins; getting enough exercise and sleep; and scheduling appointments for routine prenatal care

Linkage

Linkage: the observation that two genetic loci found close to each other on the same chromosome usually are inherited together in families at a rate greater than would be expected by chance. No identified genetic risk factor or causative gene for MDD has been identified by this method.

Pharmacotherapy

Lithium Originally seen as making the brain less excitable through affecting response to catecholamines. Now we know it also affects circadian rhythm by lengthening the circadian pattern influencing sleep. Carbamazepine (Tegretol) Affects enzymes that catabolize serotonin and dopamine. It decreases the levels of serotonin and dopmaine. It also lowers action potentials of neurons leading to decreased responsiveness. Lithium and Depakote New research shows these medications significantly influence epigenetic pathways with pronounced effects on signaling. Depakote also appears to inhibit HDAC (histone deacetylases) which inhibit gene regulation and reduce transcription. By inhibiting this, Depakote increases the expression of select histone proteins in a manner that could increase gene expression.

Critical thinking check point chapter 21

Margerie is a 23-year-old Caucasian woman who has been told by numerous people in her life that she has difficulties with alcohol consumption. Her boyfriend, her boss at her part-time job, and her neighbors have all told Margerie she drinks too much and that she is unpleasant when consuming alcohol. She does not necessarily agree with this input. Her mother had a "drinking problem" and was never able to work or improve her circumstances. She recently died at age 42 from cirrhosis. Margerie's father did not abuse alcohol, although he was a regular cannabis consumer who left the family when Margerie was 10 years old. Margerie does not think this is a cautionary tale that applies to her as she only drinks on her days off, does not use any other substances of abuse, maintains employment, and is physically healthy. 1. Would alcohol screening and testing would be appropriate for Margerie? Why or why not? 2. Is a family history important in this case? Why or why not? 3. Does Margerie have a family history that increases her risk for a genetic contribution to a problem? Why or why not? 4. What is the role of the nurse before and after tests are done? 5. What follow-up care would be necessary? CRITICAL THINKING CHECKPOINT ANSWERS 1.Alcohol affects a number of areas in Margerie's life. It would be appropriate to suggest alcohol screening and testing. Genetic testing may not be as valuable as a clinical screening for the behaviors of alcohol abuse and substance dependence. 2.Margerie's family history is important as her mother's alcoholism and subsequent death from sequelae and her father's propensity to abuse a substance and distance himself from his responsibilities are both genetic and behavioral influences on her life. 3.Both biologic parents may have contributed genetic predispositions to substance abuse and dependence. Margerie may have a disadvantage in trying to resist using substances of abuse in that her reward circuits, stimulation needs, frustration tolerance, and problem-solving abilities could all be determined by her genetics. 4. Nurses would help Margerie understand the purpose of the tests and translate some of the more unfamiliar language into more understandable terms. Following testing, nurses would be involved in explaining the meaning of the test results on Margerie's day-to-day life. 5.Margerie already demonstrates the need for follow-up care in that she has areas of functioning that are challenged by her substance abuse. Coping skills, perspective, problem solving, group and individual counseling, and therapy would all play a role in competent follow-up care.

Mendelian Basics

Mendel conducted his experiments on pea plants and these "Mendelian disorders" follow the same inheritance pattern as height or eye color. However spontaneous mutation may occur. One can be either homozygous (TT) or heterozygous (Tt). An individual who possesses identical alleles for a gene is referred to as homozygous An individual who acquires two different alleles for a particular gene is referred to as heterozygous The large T's refer to dominant traits and the small t's to recessive. Genotype refers to the genetic makeup of a person, whereas the phenotype refers to the outward expression of those genes, (physical expression or physical features of the condition such as the genotype B for brown eyes and brown eyes is the phenotypes) Wild type gene is termed as the common phenotype found in a population

Mitosis

Mitosis: the stage of the cell cycle when a parent cell divides and gives rise to two daughter cells - think somatic or body cells like the epithelial lining of our esophagus or skin Prophase: Chromosomes shorten and thicken Metaphase: Chromosomes line up at the equator of the cell along a fully formed spindle Anaphase: Centromeres divide and the attachments between the sister chromatids dissolve. Telophase: Chromosome migrate to the opposite poles of the cell and uncoil, a new nuclear envelope develops. Cytokinesis: Once mitosis occurs, the cleavage furrow forms and deepens and the cytoplasm divides. Now 2 separate identical cells enter into interphase. Cell Cleavages

Random and Nonrandom

Most forms of aneuploidy are considered to be random variation. An example of nonrandom aneuploidy would be the genetic theory of cancer, through the exposure to toxins. Random would be trisomy 21

Genes Associated With Bipolar

Most literature is focusing on regulation of the neurotransmitters serotonin and dopamine. The fact that those with BPD have a reduced need for sleep, higher levels of energy and increased risk taking has led researchers to focus on these two neurotransmitters which influence circadian regulation. Serotonin transporter (5-HTT): Allelic variation of this gene can result in reduced transcription and affinity of the receptor in those with BPD. Serotonin is known to be expressed in a higher degree in those parts of the brain that regulate responses to risky situations.

Critical thinking checkpoint

Mr. RS, a 24-year-old college student, was found walking on the freeway, shouting obscenities at the oncoming traffic. He is agitated and states "Leave me alone, I am the perfect physical specimen." His mother and wife arrive as you are completing your assessment. His mother states that he has been taking lithium carbonate 600 mg t.i.d. for Bipolar Disorder II for the past 6 years, with good results until several weeks ago. His wife reports that he has been "up all night" for the past few days and has a "harebrained scheme to win the Nobel Prize". RS's mother reveals that she suffers from chronic depression and that she is worried because RS and his wife are expecting their first child in a few weeks. She says, "I know we just have bad genes but is there anything that can be done to make sure my grandchild will not be born with bipolar disorder?" Answers are provided in the Appendix 1. Is family history important in this situation? 2. What are the risk factors for development of Bipolar Disorder in the baby? 3. What is the role of the nurse in education of the patient and family about the etiology and management of bipolar disorder? 4. What interventions might the nurse consider to assist this patient and his family to cope with his bipolar disorder? CRITICAL THINKING CHECKPOINT ANSWERS 1.While heritability is complex in mood disorders, a three-generation pedigree chart will help to identify the pattern of mood disorders in relatives. It is important to get information about each affected relative, including which mood disorder was present, age at onset, admissions to psychiatric hospitals, and suicidality. Significant numbers of affected relatives may indicate increased heritability in this family. 2.While the genotype of the infant cannot be changed, efforts to control environmental stressors that might produce expression of susceptibility genes are important. The parents should be educated to the importance of making lifestyle changes that will be supportive of their child's physical and mental growth and development. It's important to emphasize that genetics is not destiny and there are many parenting strategies that can be of help to them. Referral to a family therapist or child development specialist may be helpful. Referral to a genetic counselor may be reassuring but at present will be limited to assisting them in estimation of recurrence risk of BPD-I based on the family history. There are no genetic screening or diagnostic tests for mood disorders at this time. 3.The nurse should educate Mr. RS and his family members about the complexity of the genetic contribution to the development of mood disorders and the importance of control of environmental stressors in the development and management of BPD. It is imperative that Mr. RS understand the vital importance of taking his medication regularly. Support groups and various therapy techniques are helpful as supportive measures. 4.It's important that the nurse assist Mr. RS and his family members to identify strategies that will decrease stress; enhance coping skills in potentially difficult situations, such as the birth of a new baby; and improve social interactions between them. Stress-relieving activities such as sports, meditation, yoga, and enjoying family activities together may be recommended. Involvement in community activities will help to foster a sense of involvement and ability to deal with health issues positively.

Critical thinking

Mrs. John Smith delivered a baby with obvious signs and symptoms of Down syndrome. The baby died several minutes after birth. The causes of death listed in the death certificate were congenital heart disease and Down syndrome. Neither an autopsy nor a chromosome study was performed. Mrs. Smith and her husband, both 25-years-old, live in a rural setting. Pregnancy, labor, and the delivery at home (planned) were normal. No prenatal screening or testing procedures were done. Mrs. Smith had two previous miscarriages at 9 or 10 weeks' gestation. The abbreviated family medical history, obtained by their primary care provider, revealed that Mr. Smith was adopted, and he knew very little about his biological parents or his family medical history. Mrs. Smith is an only child. Her mother had a few miscarriages before and after she was born. Almost all of Mrs. Smith's relatives live several thousand miles away on the east coast of the United States, and she has a cousin in Florida (who she never met) who is "not right." In fact, unbeknownst to the Smiths, the cousin has Down syndrome. No one, not even their primary care provider, suggested to Mrs. Smith that she delve further into her family medical history. When she asked her primary care provider about her chance of having another child with Down syndrome, he responded "practically nil." Eighteen months later Mrs. Smith had another child with Down syndrome. Once again, prenatal testing and/or screening were not done. The Smiths were very angry and upset, especially with their primary care provider. If he had encouraged Mrs. Smith to obtain additional family medical history information, she easily would have found she has two maternal cousins, one living in Florida and the other in Pennsylvania, who have Down syndrome, and that several relatives on her mother's side of the family have had multiple miscarriages. This was all due to a 14/21 balanced translocation chromosome anomaly in Mrs. Smith's mother's side of the family. Both of the Smith children inherited an unbalanced 14/21 translocation form of Down syndrome! 1.Which of the competencies listed in Section One apply to this case report? 2.Should a chromosome study have been performed on the first Smith baby? 3.Would a complete three-generation family history have helped this family? 4.Did the Smiths ever receive standard of care genetic counseling? 5.Should options such as prenatal testing and/or screening have been offered to the Smiths? •Arguably, every competency (1-27) listed in Section One, with the possible exception of numbers 1 and 2. •Yes, a chromosome study on the baby's blood would have made the correct diagnosis and also suggested the need for additional chromosome studies in this family. •Yes, a complete three-generation family history would have strongly suggested that there is a balanced translocation running in Mrs. Smith's side of the family and also that there is a need to perform chromosome studies on Mrs. Smith and many of her relatives. •No. Yes

Embryonic stage

Nagele's rule First day of the LMP (last menstrual period), adds 7 days and then subtract 3 months Fertilization of ovum and formation of zygote as beginning of gestation (38-42 weeks) 2 to 8 weeks is embryonic period 9 weeks to 38 weeks is the fetus (fetal period) Organogenesis Ectoderm - outer primary germ layer that rise to skin, hair and naturals, central and peripheral nervous system, sensory epithelia of the eye, ear and nose and certain glands Endoderm - One of three primary germ layers of the embryo that gives rise to epithelial lining of multiple systems and parts of the liver and pancreas Mesoderm - one of three primary germ layers of the embryo that gives rise to connective tissue, bone, muscle, blood and lymph vessels, kidneys, genitals, epithelial tissue

Immunogenetics

Neuropeptides - neuroendocrine messengers that journey from brain to each cell in the body, binding to receptors Assist in functioning of the body's autonomic nervous system to regulate primary involuntary processes that include immune system and endocrine system as well as other bodily functions such as pulse, respiration, perspiration, digestion and blood circulation Single neuroendocrine system regulates: Internal state through nutrition, metabolism, excretion, water and salt balance, reaction to external stimuli, regulation of growth, development, reproduction and reduction or storage of energy Neuropeptides and neuroendocrine system: •Nerve endings are embedded in the tissues of the immune system, so it follows that changes in the central nervous system (brain and spinal cord) would alter immune responses. •Likewise, when an immune response is triggered, central nervous system activity is also altered. •Changes in hormone and neurotransmitter levels will similarly alter immune activity, and immune activity will alter hormone and neurotransmitter levels. •Lymphocytes can produce both hormones and neurotransmitters. •Activated lymphocytes produce neuropeptides recognized by the central nervous system. •Psychosocial factors alter the susceptibility to or progression of autoimmune and infectious diseases. •Immunologic reactivity can be influenced by stress. •Immunologic reactivity can be influenced by relaxation techniques, hypnosis, and biologically targeted imagery. •Immunologic reactivity can be modulated by classical conditioning. •Psychoactive drugs and drug abuse influence immune function. •Stress can interfere with the effectiveness of immunizations.

Question 8

Nurses must understand cancer genetics because: A. They make up the largest number of direct care providers. B. There are insufficient genetic experts to translate cancer genetic information to patient and the public. C. They are the case finders for cancer predisposition. D. All of the above. Answer is D

Support Groups, Counseling & Journaling

Nurses should be familiar with available peer support groups for their patients. The nurse must be aware that genetics may cause guilt and anxiety in patients and be knowledgeable of counseling options available. Nurses should suggest journaling activities as a means for patients to clarify views, thoughts and feelings about genetics.

Activities to Strengthen the Immune System

Nutrition Eating right Taking care of our body Laughter Have been shown to strengthen the immune system. Music Music therapy Group Support Counseling Journaling Nutrition

Diagnostic Testing

Performed when there are indications that a condition may exist. The indicators may be due to the health history, screening tests, or environmental exposures. Ultrasound Can provide confirmation of congenital abnormalities. Can be used in conjunction with other procedures to guide instruments. Amniocentesis Withdrawal and analysis of amniotic fluid. Fetal cells are cultured and examined. Done in the second trimester. Fetal karyotyping is done. DNA and biochemical testing can be done. Dangerous Chorionic Villus Sampling Removal of tissue from the chorionic sac. Done during the first trimester. Fetal karyotyping is performed. Provides information earlier but does not give the depth of information that amniocentesis does. Carries a high risk of unintended spontaneous abortion. Pre-implantation Genetic Diagnosis Creates an embryo using IVF and then tests each embryo for conditions of concern. Theoretically it is possible to do this without the parents knowledge. This is extraordinarily expensive. Designer Babies

Question 7

Personal health care information: A. is not private. B. is not confidential. C. may never be revealed to another entity under any circumstances. D. may become known to others as the result of genetic testing. Answer is D

Pretest for chapter 24

PRETEST Answers: 1. A; 2. A; 3. B; 4. A; 5. C; 6. E; 7. C; 8. A; 9. C; 10. B •1. A rare change in DNA sequence is called a 1. mutation. 2.phenotype. 3.polymorphism. 4.single gene disorder. •2. Early onset Alzheimer disease (AD) is characterized by 1.an autosomal dominant pattern of inheritance. 2.familial clustering but no clear pattern of inheritance. 3.no known causative gene mutations. 4.onset after age 60-65. •3. Diseases that have an autosomal dominant inheritance pattern will 1.have mutations on the Y chromosome. 2.have a vertical transmission pattern. 3.have a mutation on the X chromosome. 4.not transmit the disease from male to male. •4. The study of individual genes in relationship to health and their impact on relatively rare single gene disorders is the definition of 1.genetics. 2.genomics. 3.genotypes. 4.phenotypes. •5. An individual's genetic makeup at the chromosome or DNA level is the definition of 1.genetics. 2.genomics. 3.genotype. 4.phenotype. •6. The observable traits or characteristics of an individual such as height or cognitive status are called 1.genetics. 2.genomics. 3.genotypes. 4.phenotypes. •7. The following condition is the most common cause of irreversible dementia worldwide: 1.Parkinson disease 2.Vitamin B12 deficiency 3.Alzheimer disease 4.Huntington disease •8. The analysis of human DNA to detect disease-causing mutations for clinical purposes is called 1.genetic testing. 2.genomics research. 3. genetic research. 4.phenotypes. •9. Diseases that have an autosomal dominant inheritance pattern will 1.have mutations on the Y chromosome. 2.have a horizontal transmission pattern. 3.have a mutation on an autosome. 4.not transmit the disease from male to male. •10. A decline from a previously attained level of cognition that interferes with occupational and social roles is called 1.depression. 2.dementia. 3.delirium. 4.diabetes.

Risks and cautions

Paternity Identification Helping the parents sort through science vs. sensationalism. Describing the difference between genotype and phenotype. Fetal Gender Pre-implantation testing to create a child who can serve as a donor to a sick child. See the movie My Sister's Keeper (https://en.wikipedia.org/wiki/My_Sister%27s_Keeper_(film))

Innovations

Pharmacogenetics The intersection of pharmacology and genomics to enhance knowledge of drug therapeutics and side effects. Genetic Testing Allows the individuals to have information about their genetic makeup that helps them make informed decisions about reproductive options, health screening and behavioral modification to reduce the risk of developing certain diseases Sequencing of human genome has provided us with information that allows for the testing for various forms of genes. Key component: Family histories Nurses are experts at obtaining information regarding individual and family histories. The family history is a key component of understanding the role genetic information has in helping individuals and family members understand their personal risk factors.

Pharmacogenetics

Pharmacogenetics (PGx): the study of the role of genetics in observed differences in drug response. Effects of single genes on responsiveness to meds. Genes responsible for drug METABOLISM have been identified and are beginning to be studied

Gene Therapy: Pharmacogenomics .

Pharmacotherapy: use of medications to prevent or treat disease. Pharmacokinetics: what the body does to the drug. Pharmacodynamics: what the drug does to the body. Therapeutic Process: response

Personalized Medicine

Predisposition Genetic Testing Direct to Consumer Testing Like Ancestor DNA - 21 Me Biomarkers

Prenatal Care

Prenatal care includes diagnosing the pregnancy, monitoring its progress, screening, counseling and education. If at this time a genetic anomaly is detected, the woman will be referred to a genetic counselor for further treatment options.

Unstable repeat expansions

Present in everyone's genome Mostly due to cystosine, guanine, and thymine Normally there are fewer than 20-40 repeats More than that is not widely understood but may be owed to a DNA replication error (slipped mis-pairing) Example: Fragile X Syndrome, Huntington Disease.

Autoimmune Diseases

Research done through GWA scans Associated with the MHC (major histocompatibility) complex and a breakdown in self tolerance. Newly associated with the allele for intracellular tyrosine phosphatase (PTPN22). Example: rheumatoid arthritis, SLE, psoriasis and MS. "Hygiene theory"

Structural Chromosomal Abnormalities

Results from breakage of the chromosome that is repaired incorrectly or rearranged. Translocations, inversions, deletions or duplications. Example: cri du chat syndrome Microdeletions: cannot be detected without the use of fluorescent in situ hybridization (FISH). Occur de novo. Babies present as floppy and weak, with inability to suck.

Newborn Screening & Genetic Testing of Children

Routine newborn screening does not require parental consent. Why? Diseases screened for are not contagious so is this a threat to public health? Should screening wait until the child is of age to consent? Are parents made extremely aware that their child's DNA will be stored at the lab facility? Concerns: Use of test results to deny access to health insurance Unequal access to diagnostic and treatment facilities based on health care disparities Anxiety created by a positive result

Terms

Sensitivity: the test's ability to identify those who are at risk for the condition and require further testing Specificity: a test's ability to accurately predict those who are not at risk for a specific condition and therefore do not necessarily require further testing False positives and False negatives

Public Health & Newborn Screening Programs

Should we be screening people for diseases there are no known cure for? If we can't cure it, if it is not for the greater good? Why are we doing it? What are the inequities present? Forcing people who can't deal with it to make difficult decisions when people who can deal with it give them time to prepare it Autonomy vs. beneficence

Genome Wide Association

Studies Genetic technology that allows genotyping of 1 million SNPs from both affected and control groups. This have been done five times and has yielding inconclusive results.

Question

Substance abuse is the result of: A. a genetic profile B. a specific environment C. a specific combination of genetics and environment D. unspecified combinations of genetics and environmental factors Answer is D

Critical Thinking

T. J. is a 8-year-old male who presents with a small chin, round face with protruding tongue, an almond shape to his eyes, and shorter-than-expected extremities. His speech is halting and cognition appears impaired. His parents have brought him in for evaluation of a rapid heart rate with occasional pain behaviors centered on his chest (holding chest while rocking accompanied by moaning) over the past week. His mother reports that he often appears to experience heartburn after eating, and she is expressing concern about the possibility of long-term medical complications. His father reports that they have been thinking about having another child but are concerned about the possibility of having another child with significant deficits. 1. Which condition are these symptoms most compatible with? 2. What form of aneuploidy is Down syndrome associated with? 3. What are the most common risk factors associated with aneuploidy that may be relevant to this case? 4. How would you respond to the father regarding the possibility of having another child? •These symptoms are consistent with a history of Down syndrome. Cognitive deficits are often significant and occur concomitantly with congenital cardiac defects, gastroesophageal reflux disease (GERD), and sleep apnea. The presence of recurring chest pain could reflect the presence of GERD or problems associated with a congenital cardiac defect. In terms of physical characteristics, children with Down syndrome exhibit a particular set of facial characteristics that include a protruding tongue, upward slanting (almond shaped) eyes, and a smaller skull than expected for age. These children also display hypotonicity and excessive flexibility due to ligamental laxity. They often have short, stubby fingers and broad hands. •Down syndrome is associated with trisomy 21. Trisomy 21 is the presence of an extra 21st chromosome caused by nondisjunction. This can be associated with either an extra full chromosome or a chromosomal segment. •The inheritable risk of Down syndrome ranges from 3%-12%, dependent on paternal or maternal risk. The primary risk factor for Down syndrome is maternal age. At the age of 35, the maternal risk of having a child with Down syndrome is 1 in 400. At age 45, the risk rises to 1 in 24 (Resta, 2005). •The inheritable risk of Down syndrome ranges from 3%-12%, dependent on paternal or maternal risk. Paternal risk is approximately 3%, primarily due to translocation.

Critical Thinking point chapter 19

T. S. is a 24 year old, Caucasian male college student. He presents with a complaint of intermittent, nonrestful sleep for the past 4 days. His sleep has been disrupted by racing thoughts and an intense sense of energy. At this point, he is pacing the room, exhibiting coherent and fluent pressured speech. As well, his vital signs are slightly elevated. As you are interviewing him, he mentions an uncle that is "manic" and expresses concern that this might be happening to him. 1. Which of these signs and symptoms would be consistent with bipolar disorder? 2. Are there links between familial history and bipolar disorder? 3. T. S. asks if there is genetic testing available to determine whether or not he has bipolar disorder. What is the most appropriate response? 4. After discussing his condition, what would be an appropriate follow-up plan for T.S.? 5. What is the role of the nurse in working with this patient? CRITICAL THINKING CHECKPOINT ANSWERS 1.The diagnostic criterion for bipolar disorders requires meeting criteria for mania and possibly major depression as well. The criteria for mania must be met, and symptoms need to have lasted for at least a 1-week period. At least three of a set of seven symptoms needs to be observed. In this case, the symptoms have not lasted long enough, even though a decreased need for sleep, increased talking, and a feeling of racing thoughts are present. 2.There is both twin and familial association evidence for bipolar disorder. 3.There is no reliable genetic means of testing for the presence of bipolar disorder. Diagnosis is made through comparison of symptoms with a criterion list and determining symptom duration. The genetic findings in those with bipolar disorder implicate regulation of the circadian cycle as well as serotonergic and dopaminergic pathways. 4.After further evaluation to determine that the symptoms are not due to the use of a substance or medication, then a mental health referral for evaluation should be made. The patient should also be evaluated for depressive symptoms and any plans for self-harm. 5.After a thorough physical examination and assessment, the patient should receive appropriate referrals for mental health evaluation and possible treatment. Information needs to be provided regarding bipolar disorder and the possible genetic links. Should the patient already be on medication, the nurse should evaluate medication adherence and the use of other substances.

Genomics

The concept that all conditions adversely affecting health and illness have both genetic and environmental causes. Example: HIV viral load Viral load - The amount of a virus present—the more virus present, the higher the load. HIV - influenced by environment but genetic component that explains why two individuals with the same viral load respond differently to disease and disease treatment

Fertilization

Takes place in the ampulla (outer third of fallopian tube) Peristalsis caused by high levels of estrogen propel the fertilized ovum toward the uterus Sperm must undergo process of capacitation which is the removal of sperm head plasma membrane Once head of sperm release an enzyme, it becomes hyperactivated and cause the deterioration of the corona radiate (elongated follicular cells that radiate from the ovum) and allowing the sperm to penetrate The nucleus of sperm fuse with the nucleus called a zygote and creates a diploid (half each from father and mother) Gender is determined immediately at fertilization Zygote stage last for 14 days and travels to the uterine cavity during which cellular multiplication begins

Genes and Chromosomes

The basic unit of heredity is a gene, a segment of DNA that contains the information necessary to create a specific protein. Genes are located on chromosomes in specific spots and in specific sequences. Each cell contains identical genetic material and the same DNA code but not all DNA code is active in all cells. Which code is active determines which type of cell it will become. Somatic cell - 46 chromosomes (23 from each parent) 44 Chromosomes are autosomal (22 pair) 2 chromosomes are sex linked chromosomes (1 pair) Totaling: 46 or 23 pairs Gametes - 23 chromosomes (22 chromosomes + 1 sex chromosomes either X or Y, X for mother and X or Y for fathers) Mothers can only give X but Fathers can give both X or Y and determine the gender of the baby.

Nullisomy

The loss of two chromosomes 2n-2 Often not compatible with life, however some partial nullisomy is compatible with life and results in certain medical conditions. Example: studies on autism.

Mitochondrial Inheritance

The mutated gene is located on the mitochondrial DNA (mtDNA). Inheritance is through maternal transmission and lost through paternal transmission. Males and females are affected equally. Variability in expression of the disorder is common. Normal and mutated mtDNA for the same allele can be in the same cell (heteroplasmy) or a mutation in the mtDNA can be present in all maternal DNA copies (homoplasmy). •All children of homoplasmy mutations will inherit the mutation. •Males will not pass on the mitochondrial disorder to their children. Example: Cardiomyopathies, Myoclonic Epilepsy

Eugenics

The proposed improvement of the human species by encouraging or permitting reproduction of only those people with genetic characteristics that are judged desirable Genetics and genomics do not exist in isolation It is not an absolute science and not all things can be reduced to genetic code. (The order of the nucleotide sequences in DNA or RNA that form the basis of heredity through their role in protein synthesis.) Example: mental hygiene movement Sterilized the mental health population Adolf Hitler and Charles Darwin's Cousin, Francis Galton was supportive of it.

Consanguinity

The relatedness of individuals who marry each other. This promotes a higher risk of rare alleles and autosomal recessive disorders in offspring. Example: Alkaptonuria It is a disorder in which the body fails to properly break down certain amino acids (tyrosine and phenylalanine). It is a defect in the HGD gene and results in brown-black-colored urine when it hits the air as well as other symptoms like arthritis in the spine later in life. This disorder was scrutinized and found in more than one-fourth of cases in which most of the parents were first cousins.

Question

The symptoms of major depression are the result of: A. the presence of increased genetic susceptibility. B. response to internal and external environmental stresses. C. inherited personality disorders and lack of discipline. D. both A and B. Answer is D

Critical thinking chapter 4

The two meiotic divisions in sperm cells occur during spermatogenesis. In oogenesis the first part of meiosis occurs during fetal development, and meiosis is completed after puberty. 1.Do you think that the amount of time between these events may have something to do with the fact that the rate of infants born with chromosomal abnormalities increases with maternal age? CRITICAL THINKING CHECKPOINT ANSWERS Spermatogenesis takes approximately 64 days for the entire process. Each phase takes 16 days, so the possibility of environmental insult during the time of meiosis is much less. Since oocytes spend a much longer time in meiosis, the chance of environmental insults is significantly greater and increases with maternal age. While there is some evidence that increasing paternal age plays a role in chromosomal abnormalities, the role is much smaller.

Practical Applications

The ultimate question is: Is substance abuse related more to nature or nurture?

Presymptomatic Genetic Testing

The woman has the right to choose whether or not to undergo screening testing. We as practitioners must provide the women with concrete, correct, sound information regarding positive conditions so they can make informed decisions regarding their pregnancies. This is a highly charged, emotional issue.

Question 2

The work of the Human Genome Project: A. created the rationale for genetic determinism B. provided us with the basis for personalized healthcare C. dictates which drugs will be most effective for treating cancer D. allows scientists to prove which individuals are healthiest Answer is B

Question 3

The work of the Human Genome Project: A. created the rationale for genetic determinism B. provided us with the basis for personalized healthcare C. dictates which drugs will be most effective for treating cancer D. allows scientists to prove which individuals are healthiest Answer is B

Competencies for PCH RNs (Public or Community Health nurse only)

There are additional competencies for Public/Community Health nurses. These include but are not limited to: Cellular and molecular biology knowledge Knowledge of genomics Epidemiological and statistical method knowledge Financial planning and systems management Cultural awareness Structure and function of government Mobilizing community partnerships Support for research and training Efforts that ensure a workforce that is competent in genetic and genomic healthcare

Aneuploidy and Aging

There are strong relationships present between maternal age and incidence of aneuploidy. At 35: 1:400 At 45: 1:24 Operative premise: increased maternal age leads to increased incidence of nondisjunction. This could be due to increased levels of gonadotropin, increased levels of proteins that cause nondisjunction. Paternally it is thought that aging has adverse effects on sperm quality.

Placenta

Two layers Cytotrophoblast (inner layer) Syncytitrophoblast (outer layer) When embeded into the endometrium Placental septa allows for compartmentalization of the uteroplacental circulation Exchange of nutrients and gases are minimal during first 3 to 5 months - maternal and fetal Maternal outside - enter intervillous space through the spiral arteries of endometrium produced by maternal blood pressure Transport function 1) It provides the fetus with exchange of metabolic and gaseous products, 2) it acts as an organ of transfer, and 3) it produces the hormones necessary for fetal development and maintenance of pregnancy. Includes: simple diffusion, facilitated transport, active transport, pinocytosis, and leakage Endocrine Function Human chorionic gonadotropins ( hCG) Human placental lactogen (hPL) - human chorionic somatomammotropin Progesterone Estrogen

DNA Repair

Two major types The first repairs DNA damage caused from external sources and includes the BER (base excision repair) pathway. (UV rays) The second repairs mistakes made during DNA replication and includes the MMR (mismatch repair) pathway.

Ultrasound

Ultrasound: may identify areas of concern Example: a large area of fetal nuchal translucency may indicate Down Syndrome and indicate the need to perform karyotype testing

scope

Varies greatly in terms of incidence and symptom severity. Survivable forms: trisomy and monosomy. Tetrasomy: very rare. Nullisomy: generally not compatible with life and results in spontaneous abortions. Aneuploidy in general occurs in 1:160 live births.

Laughter

Vascular research shows that laughter increased blood flow via vasodilation by 22% whereas stress decreased it by 35%. Nursing Implications: Laughter history documentation is now being encouraged as a measure of emotional well being. We can assist patients in reducing stress by being pleasant and sincere always. Or practice laughter yoga with your patients

x linked dominant

Very rare. Expressed in the female in one gene copy. Males have more serious effects than females. Transmission is from males to all daughters but NOT to all sons. High rates of miscarriage in females and lethality in males. Affected females are more common than males and have a milder expression of the phenotype. Example: Incontinentia Pigmenti (Skin disorder), Charcot-Marie Tooth Disease (motor and sensory neuropathy) •Expressed in the female in one copy. •Males have more severe effects than females. •Transmission from male to all daughters but not to sons. •High rates of miscarriages in females and lethality in males. •Affected females are more common than males and a milder expression of the phenotype.

Implications for Practice

Vidaza ® and Dacogen ® are DNA methyltransferase inhibitors. Istodax ® and Valproic Acid (for Bipolar Disorder - Depakote) are histone deacetylase inhibitors.

Practical Implications

Warfarin - blood thinner - coumadin - concern about PTINR and we adjust the drugs on it. No standard dose of it. Different people react differently to it. Why? Genetic variation - no clear answer Tamoxifen - breast cancer drug Slow metabolize and ultra rapid metabolizer - genes have been identified that metabolize this drug. We have able to isolate the gene to know which woman will need a certain dose of it. We can make an adjustment based on this gene

Dr. Jose Ordovas: The DNA Diet

We should be screened genetically for hypertension, heart disease so at a young age, we can custom fit our diet to fit what our genome need Nursing Implications: We can encourage patients to keep a food diary to chronical what they eat, when and why. This will help us to collaborate with the patient to make changes specific to the patient's needs.

y Linked disorder

Y-Linked or Holandric Inheritance The Y chromosome is the smallest and very few genes are known to be located on it. Only affects males. Affected males must transmit the disorder to their sons, no daughters are affected. Example: genes involved with spermatogenesis •It only affects males. •Affected males must transmit the disorder to their sons.

Genes and Cells

What are genes? The basic unit of heredity is a gene: a segment of DNA that contains the information necessary to create a specific protein. . What are their characteristics? autosomal dominant (also know codominant), autosomal recessive, x linked recessive, x linked dominant, x inactivation, y linked disorders, mitochondrial disorders, mosaicism, and etc. What are they responsible for? contain DNA to provide for the codes to translate into proteins (Chromosomes - genes - DNA-RNA-protein) What is the cell cycle? Mitosis Meiosis Interphase - longest Describe the process of transcription and translation. Transcription - DNA to RNA Translation - RNA to protein What is GENOMICS? Environment and genes together What is a candidate gene? We have an idea of what the gene is so we think is responsible for a certain diseases so we study it Know the statements about genes and do the true of false Genes are able to dependently express themselves - False (independently)

Pharmacogenetics

What are the negative implications of PGx testing? What if there are no alternative> So we're testing to see if you respond to something but there is no alternative. What if the test is inaccurate and we don't treat them? If we did this test and it says this person response and we give them the meds are we going to follow up? What is an Ultra-rapid metabolizer? What is the implication? Very quickly Like tamifen it will break down quickly which increases your ability to fight the cancer but also does what you need more of the drugs Why isn't PGx testing done more? Costs Not may labs can test for it in the US Not many prescribers are ok with it

Cancer

What are wild type genes? Its what we want What are the hallmark traits of cancer? They don't grow the same as normal cells They don't live much longer than a normal cell They cause new blood vessels to grow Their immune system is ineffective Talk about cancer stem cells and their theory. They are only responsible for the initiation of tumor growth. If we could target that, then we could prevent tumors from growing What is Vidaza (DNA methyltransferase inhibitor) and why do we use it? It restores your body natural ability to suppress tumor cells Discuss the benefits of relaxation and cancer. It increases your immune system

Before this becomes common practice.....

What challenges can you identify? Generalization Prescriber will probably not follow up with you with the excess genetic information Does not deal with lifestyles factors and could play down everything that goes in it - Compliance issues

Mental Illness

What is one of the first signs of a shift to mania in BPD? (bipolar disorder) Lack of sleep What else should we assess for in familial patterns of BPD? Were they overly happy or euphoric? Did any relatives have any psychological disorder Is BPD inherited? Is it only because of genes? NO - twin studies only 40% We believe in the higher risk but not just genetics only What is the hallmark characteristic of Bipolar One? Mania What are symptoms of MDD? (major depressive disorder) Inability to hold a job or do well in school Weight loss/gain

Fetal Development

What is the L/S ratio lecithin-sphingomyelin (L/S) ratio approaches 2:1 indicating lung maturity what ratio is indicative of lung maturity? 2:1 What is hCG doubling time and if it is not doubling correctly what may that be indicative of? hCG doubling time - correctly dividing - every 72 hours indicative of how well the pregnancy is progressing Not doubling correctly - miscarriage (spontaneous abortion) or ectopic pregnancy) What is the "critical period" and why? What should women avoid during this time? Critical period - first eight weeks Why? Organogenesis What to avoid? Anything that is a teratogen such as drinking If women no they will be exposed to a teratogen such as CMV what recommendations can we provide? Hand washing frequently Do not share any utensils, cups or plates No changing of diapers or scooping kitty litter What is the prenatal triple screen? Three substances in their blood Not a diagnostic test Whether you need or don't need further testing

Autosomal Dominant

When a mutation in a single allele is sufficient to cause the disease to be present in a homozygous or heterozygous individual. Only need one copy to be affected. No carrier. If have both copies, will result in a very severe characteristics of the disease or disorder Examples include: Osteogenesis Imperfecta, Marfan Syndrome, and Myotonic Dystrophy (muscular dystrophies) - progressive weakness, myotonia, cardiac conduction abnormalities, feeding difficulties, somnolence, frontal balding, and testicular atrophy disorder of the fibrous connective tissue and defect in type 1 fibrillin, a glycoprotein encoded by the FBN1 gene. The affected individuals often present with Marfan stigmata: They are often extremely tall, with disproportion upper and lower body, arachnodactyl (spider fingers), pectus formation, joint laxity, myopia, mitral valve prolapse, and life-threatening aortic dissection (notables such as Jonathan Larson who created the Broadway, Rent, passed away due to aortic dissection)

Question 7

Which of the following describes the essential cause of autoimmunity? A. Too many antigenic determinants. B. Lack of antibody formation. C. Breakdown in self- tolerance. D. Lack of macrophages. Answer is C

Question 2

Which of the following is a reliable risk factor for the development of aneuploidy? A. Cigarette smoking B. Maternal Age C. Paternal age D. Smog Answer is B

Question 5

While genetic testing can identify the genetic composition of an individual, also known as the ________; it may not be able to accurately determine what a person actually will look like, which is known as the _________. A. genotype, phenotype B. phenotype, genotype C. phenotype, allele D. genotype, allele Answer is A

Critical Thinking

Zoe is a 38-year-old, Caucasian woman who is pregnant for the first time. She and her husband are excited about the pregnancy. Her husband appears to be scared and states that both sides of the family have experienced pregnancy losses. The pregnancy is approximately 12 weeks along. 1. What prenatal testing and screening would be appropriate for this woman? 2. Is a family history important in this case? 3. Are there any factors that put this woman at risk for a genetic problem? 4. What is the role of the nurse before and after the prenatal tests are done? 5. What follow-up care would be necessary? •This woman would undergo normal prenatal testing and screening but in addition she may want to consider chorionic villus sampling and/or an amniocentesis. •A family history is always important to see what might be revealed about the offspring. In this case it is particularly important as there has been a report of pregnancy losses on both sides of the family. •Any woman who is pregnant after the age of 35, especially for the first time, is considered at risk for genetic problems. The other red flag for this woman is the history of pregnancy losses on both sides of the family. •The nurse must ensure that the woman and her husband understand what the nurse midwife, nurse practitioner, or physician has told them regarding the need for routine as well as specific prenatal testing and screening. After the tests are done, the nurse must confirm the couple's understanding of the test results and help them to voice any questions or concerns they might have. Even if the test results are fine, the family may need reassurance as they have mostly likely been anxious about the results and may still be anxious about the pregnancy outcome due to the family history of pregnancy losses. •The type of follow-up care depends on the test results and the family's needs. This follow-up must be tailored to each individual family.

Pre test for chapter 10

•1. Autosomal refers to the 1.chromosomes that are not related to sex/gender. 2.chromosomes that are responsible for sex/gender. 3.chromosomes that are broken. 4.chromosomes that are X-linked. •2. Prenatal testing is 1.required only for women who are at risk for producing an infant with a genetic problem. 2.required for all women who are pregnant. 3.recommended for all women planning a pregnancy. 4.recommended for all women who are pregnant. •3. The ideal time to consider perinatal health is 1.prenatally once pregnancy is confirmed. 2.antepartally before the third trimester. 3.intrapartally before the delivery. 4.preconceptually before the pregnancy begins. •4. Chorionic villus sampling is usually done 1.during the first trimester. 2.during the second trimester. 3.during the third trimester. 4.at any time. •5. Mendelian inheritance patterns include 1.autosomal dominant. 2.autosomal recessive. 3.mutations. 4.Both A and B •6. A woman of advanced maternal age is one who is 1.over the age of 30. 2.over the age of 35. 3.over the age of 40. 4.over the age of 45. •7. A woman of advanced maternal age is at 1.greater risk for producing an infant with a genetic problem than a younger woman. 2.equal risk for producing an infant with a genetic problem than a younger woman. 3.less risk for producing an infant with a genetic problem than a younger woman. 4.unknown risk for producing an infant with a genetic problem. •8. X-linked conditions can be passed from fathers to their 1.daughters. 2.sons. 3.Both A and B 4.Neither •9. 9. A screening test can be used to make a definitive diagnosis of a genetic condition. A.True B.False •10. 10. Cultural beliefs and values affect the attitude towards prenatal testing and screening. A.True B.False 1. A; 2. D; 3. D; 4. A; 5. D; 6. B; 7. A; 8. A; 9. B; 10. A

Pretest chapter 8

•1. Based on the last menstrual period, a full-term pregnancy lasts how many weeks? 1.28 2.38 3.40 4.42 •2. Ovulation occurs 1.14 days after the start of the menstrual cycle. 2.14 days before the start of the menstrual cycle. 3.midway between two menstrual periods. 4.every other month. •3. The functions of the placenta include all of the following EXCEPT 1.it provides a passage of essential nutrients for the fetus. 2.it provides the exchange of metabolic and gaseous products. 3.it produces hormones necessary for fetal development. 4.it forms a barrier to microorganisms such as bacteria and viruses. •4. Identical twins are called 1.monozygotic. 2.dizygotic. 3.conjoined. 4.vanishing. •5. Based on the last monthly period, the ninth week marks the beginning of the fetal period. A.True B.False •6. Fetal movement felt by the mother around 16 to 20 weeks is called 1.lightening. 2.induction. 3.quickening. 4.dropping. •7. A congenital anomaly called a malformation is a(n) 1.interruption of normal development process. 2.alteration in form or shape resulting from mechanical forces. 3.subnormal development of tissue that often affects several organs. 4.a structural defect of an organ or larger body region. •8. An example of a numerical autosomal chromosomal abnormality such as a trisomy is 1.Turner syndrome. 2.Jacob's syndrome. 3.Down syndrome. 4.Klinefelter syndrome. •9. The purpose of preconception counseling includes all of the following EXCEPT to 1.identify risk factors for complications in pregnancy. 2.determine the best methods of contraception. 3.assess nutritional status. 4.screen for diseases that may be genetically transmitted. •10. A cause of fetal loss or demise is 1.morphologic abnormalities. 2.immunologic disorders. 3.infection. 4.All of the above PRETEST Answers: 1. C; 2. B; 3. D; 4. A; 5. A; 6. C; 7. D; 8. C; 9. B; 10. D

Pretest chapter 19

•1. Bipolar disorder is best described as a condition marked by 1.sustained elevation of mood mixed with periods of depression. 2.periods of depression that alternate with periods of normal mood. 3.sustained depression of mood. 4.social isolation and avoidance of risk taking. •2. Bipolar disorder is thought to be inherited. A.True B.False •3. The chief symptom of bipolar disorder is mania. This elevation of mood is most likely the result of dysregulation of 1.cortisol. 2.NR3C1. 3.the CLOCK gene. 4.sirtuin 3. •4. The circadian cycle is involved in the regulation of 1.appetite and risk-taking behavior. 2.sickness behavior. 3.sleep and alertness. 4.spatial relations and proprioception. •5. The nurse needs to assess the patient with bipolar disorder for 1.increased risk taking and participation in pleasurable activities. 2.decreased risk taking and social exploration. 3.decreased sleep and increased energy. 4.increased sleep and decreased appetite. •6. The pharmacologic agents given for the treatment of bipolar disorder, particularly lithium, influence genetic mechanisms through 1.lengthening of the circadian cycle. 2.shortening of the circadian cycle. 3.increasing expression of the CLOCK gene. 4.decreasing expression of the CLOCK gene. •7. The CLOCK gene is believed to play a role in bipolar disorder through 1.effects on cortisol secretion. 2.suppression of cortisol secretion. 3.prolongation of the circadian rhythm. 4.shortening of the circadian rhythm. •8. The main catecholamines of interest in those with bipolar disorder are 1.dopamine and serotonin. 2.dopamine and cortisol. 3.dopamine and epinephrine. 4.dopamine and prolactin. •9. The primary genetic mechanism underlying the effectiveness of pharmacologic agents in the treatment of bipolar disorder is 1.regulation of histone acetyltransferases. 2.regulation of histone deacetylases. 3.regulation of prolactin. 4.regulation of cortisol. •10. Hyperthymia is a term that best refers to 1.disrupted thermoregulation. 2.a sustained low-level mania. 3.a low level of depression. 4.a sustained major depression. PRETEST Answers: 1.A; 2. A; 3. C; 4. C; 5. D; 6. B; 7. D; 8. A; 9. B; 10. B

Pretest for chapter 11

•1. Civilians organized Boards of Health to address rampant spread of diseases to maintain healthy populations. A.True B.False •2. Which statement is true about a false positive screen? 1.The individual has the disease or illness but the screen is negative. 2.Further testing is not needed. 3.The screen is positive and the individual has the disease or illness. 4.The screen is positive but the individual does not have the disease or illness. •3. Which of the following statements is true about validity? 1.It refers to whether or not an instrument, test, or screen accurately measures what it is supposed to measure. 2.It refers to whether or not an instrument, test, or screen consistently measures what it is supposed to measure. •4. Mass spectrometry (MS/MS) has become the primary instrument for analyzing blood samples obtained from infants following birth. A.True B.False •5. Ethics is 1.the examination of moral reasoning. 2.guided by a set of longstanding principles that have served as the foundation for ethical decision making. 3.categorized by profession (medicine, nursing, teaching) and by specialty (bioethics, biotechnology). 4.All of the above •6. Cystic fibrosis 1.usually presents in infancy. 2.is a hereditary disease that primarily affects the lungs, pancreas, intestine, liver, sweat glands, and male reproductive tract. 3.can be treated with a pancreatic enzyme, fat soluble vitamin, and salt supplementation, if detected by newborn screen. 4.All of the above •7. Congenital hypothyroidism is 1.not detected by newborn screen. 2.a disabling and untreatable condition. 3.associated with significant neurologic impairment. 4.treated with human insulin. •8. The method used to ensure the voluntary participation of subjects is 1.justice. 2.beneficence. 3.informed consent. 4.fidelity. •9. If the parent declines the newborn screen after they have been thoroughly educated 1.a refusal form may need to be completed depending upon the state or hospital of birth. 2.the nurse will need to contact social services to report neglect. 3.the nurse will obtain the newborn screen regardless of parental wishes because it is state law. 4.None of the above •10. Some advocate for newborn screening of prenatal exposure to which of the following substances? 1.Drugs 2.Alcohol 3.Nicotine 4.All of the above 1. A; 2. D; 3. A; 4. A; 5. D; 6. D; 7. C; 8. C; 9. A; 10. D

Pretest chapter 23

•1. Clinically important single genes that have been intensively studied in drug response include those that code for 1.drug absorption. 2.drug distribution. 3.drug metabolism. 4.drug elimination. •2. Pharmacogenetic testing 1.targets single genes associated with drug response. 2.uses broad approaches such as microarray. 3.is only used in drug trials. 4.is a genetic test ordered by pharmacists. •3. When a drug's effectiveness relies on metabolism it is called 1.an active drug 2.a pro-drug. 3.a reactive drug. 4.a substrate. •4. Tamoxifen and warfarin are examples of medications for which pharmacogenetic testing is being used in select specialty settings. A.True B.False •5. A purpose of pharmacogenetic testing is to identify patients who are genetically predisposed to being more sensitive (responsive) or more resistant (less responsive or nonresponsive) to a medication with a narrow therapeutic range. A.True B.False •6. Nurses need to be able to determine that the patient knows 1.why a pharmacogenetic test was ordered. 2.how a pharmacogenetic test result might be used for medication selection or dosing. 3.the limitations of the test. 4.the results may be relevant for future medications. 5.All of the above •7. Nurses can assure patients that once they have had a pharmacogenetic test for one drug they will not need pharmacogenetic testing in the future. A.True B.False •8. A patient who has a pharmacogenetic test report that states no mutations were found may still have an undetected mutation in the tested gene that could lead to an adverse drug reaction. A.True B.False •9. Nongenetic factors such as age, weight, and environment do not need to be considered if a pharmacogenetic test was done. A.True B.False •10. A pharmacogenetic test for a specific medication may indicate 1.the medication is unlikely to work. 2.the patient may need a lower dose than routinely used to reduce risk for toxicity. 3.the patient may need a higher dose than routinely used to experience the intended effect. 4.the patient may require a different medication. 5.All of the above 6.None of the above PRETEST Answers: 1. C; 2. A; 3. B; 4. A; 5. A; 6. D; 7. B; 8. A; 9. B; 10. D

Posttest for chapter 9

•1. Genetic testing can be used for 1.determining insurability. 2.determining whether a person will definitely develop a genetic condition later in life. 3.providing services to individuals with disabilities. 4.denying employment. •2. The branch of the Human Genome Project that studies ethical and social concerns is 1.ELSI. 2.AHRQ. 3.CDC. 4.FDA. •3. The federal prohibition on genetic discrimination is a part of 1.ELSI. 2.the FDA. 3.GINA. 4.the CDC. 1. B; 2. A; 3. C

Pretest chapter 1

•1. Genetics is the study of A.human heredity. B.individual genes. C.the transmission of health and illness. D.mitosis and meiosis. •2. The Human Genome Project 1.was designed to identify the hereditary causes of health and illness. 2.is an ongoing effort of the U.S. Department of Health and Human Services. 3.focused solely on the science of genetics. 4.successfully mapped the entire complement of genes in humans. •3. The relevance of genetics to nursing practice A.is marginal at best. B.is limited to advanced practice nurses. C.is important to all nurses, regardless of level of education or site of practice. D.is complex and difficult to describe. •4. Nurses need to know about genetics because 1.they may have patients who ask questions that are hard to answer. 2.they may be working in places where there are no medical geneticists. 3.they have a special interest in genetics. 4.genetics knowledge is a core competency for nursing practice. •5. Illnesses that have a genetic component are limited to A.those syndromes identified by newborn screening. B.certain forms of cancer, including breast cancer. C.hereditary conditions. D.essentially all issues affecting health and illness. •6. Which of the following diagnoses does NOT have a genetic component? A.Type 2 diabetes mellitus B.Acute trauma C.Cystic fibrosis D.Rheumatoid arthritis •7. Which statement is true? 1.There are significant genetic differences between races. 2.There is more genetic variation within racial groups than between racial groups. 3.Some races are genetically inferior to other races. 4.Mental retardation has a large racial component that is genetically determined. •8. Multifactorial genetic inheritance A.includes environmental factors. B.is a result of climate change. C.is found in individuals who have sickle cell anemia. D.is only found in conditions transmitted from mother to son. •9. The Human Genome Project A.was conducted solely by the U.S. Government. B.has been completed and has no further relevance for scientific research. C.continues to be the foundation for our understanding of health and illness. D.resulted in the controversy over the use of stem cell therapy. •10. The most valuable information to determine an individual's risk for a condition with a genetic component is A.the sequencing of the breast cancer gene. B.the test for cystic fibrosis carriers. C.maternal serum screening for alpha fetoprotein. D.the family history. Answers are 1. B; 2. D; 3. C; 4. D; 5. D; 6. B; 7. B; 8. A; 9. C; 10. D

Posttest chapter 23

•1. Higher than expected enzyme activity is predicted in 1.extensive metabolizers. 2.ultrarapid metabolizers. 3.immediate metabolizers. 4.poor metabolizers. •2. A person with a genotype consistent with extensive metabolizers can be expected to function as an intermediate or poor metabolizer when 1.taking a medication that is an enhancer for the enzyme. 2.taking a medication that stimulates the immune system to destroy the enzyme. 3.taking a medication that causes an allergic response. 4.taking a medication that is an inhibitor for the enzyme. •3. Increased metabolism of a pro-drug 1.increases the risk for drug toxicity at typical doses. 2.reduces the risk for drug toxicity at typical doses. 3.reduces the effectiveness of the drug at typical doses. 4.increases the effectiveness of the drug if taken at higher doses. •4. Increased metabolism of an active drug 1.increases the risk for drug toxicity at typical doses. 2.improves the effectiveness of the drug at typical doses. 3. reduces the effectiveness of the drug at typical doses. 4.has no effect on the drug because it is active. •5. Concentration of tamoxifen's active metabolite endoxifen can be expected to be higher in which of the genotype-predicted metabolizing phenotypes? 1.Extensive metabolizer 2.Intermediate metabolizer 3.Poor metabolizer 4.Ultra rapid metabolizer •6. When a starting dose for warfarin is based on a PGx test result, repeated blood draws for INR can be avoided. A.True B.False •7. The utility of PGx can be expected to improve when 1.prescribers feel knowledgeable enough to use the test and interpret the results. 2.drug-drug interactions are identified. 3.when multiple genes can be tested and their interactions measured to predict phenotype. 4.A and C above 5.None of the above •8. The results from gene(s) analyzed in a PGx test to predict tamoxifen response can be used later if the patient is prescribed warfarin. A.True B.False •9. A 50-year-old woman tells you she had a PGx test for CYP2D6 back in 2006 when she started on fluoxetine. The test indicated she was an extensive metabolizer. She wants to know why the CYP2D6 test is being ordered again for tamoxifen since genes don't change. What is the most likely reason? 1.The current CYP2D6 test analyzes more variant alleles than the previous CYP2D6 test. 2.Fluoxetine is an antidepressant. Tamoxifen is an anticancer medication. 3.The hormonal imbalances of menopause may reduce tamoxifen's effectiveness. 4.A test for a gene needs to be repeated with each new medication. •10. A 64-year-old male patient was started on clopidogrel. When his CYP2C19 test came back indicating he was a poor metabolizer, the doctor switched him to warfarin. What is the most likely reason? 1.Warfarin still works for CYP2C19 poor metabolizers, but lower doses are needed because the patients are at risk for bleeding. 2.Clopidogrel is a pro-drug and metabolized by CYP2C19 as a pro-drug. Therefore, clopidogrel is unlikely to work in poor metabolizers. 3.Clopidogrel works by interfering with platelet aggregation while warfarin works by interfering with the vitamin K-dependent clotting pathway. 4.Warfarin might turn out to be a better substrate for CYP2C19. POSTTEST Answers: 1. B; 2. D; 3. A; 4. C; 5. D; 6. B; 7. D; 8. B; 9. A; 10. B

Pretest chapter 20

•1. Mood Disorders (MD), such as major depression and bipolar depression, are diagnosed by 1.utilizing laboratory tests to identify certain proteins. 2.testing for the presence of specific gene alleles. 3.utilizing specific symptomatic criteria. 4.observing individual responses to antidepressant drugs. •2. Major Depressive Disorder (MDD) is a syndrome that is 1.present in humans across the lifespan. 2.found most often in children. 3.seldom found in individuals over 65 years of age. 4.rarely seen in pregnant patients. •3. Bipolar Disorder (BPD) with rapid cycling between depression and mania 1.generally onsets later in life. 2.occurs only in men. 3.is never found in young children. 4.occurs more frequently in women than in men. •4. Depression may be caused by a(n) 1.imbalance of neurotransmitters in several parts of the brain. 2.imbalance of receptor density on the postsynaptic neuronal membrane. 3.deficiency in signal transduction between neurons. 4.All of the above •5. Major Depressive Disorder (MDD) and Bipolar Disorder (BPD), like all complex diseases, are thought to develop 1.in response to the presence of dominant genes in a family. 2.as the result of genetic susceptibility plus environmental stressors. 3.only in individuals who have reached sexual maturity. 4.as recessive genes in roughly 25% of the population. •6. In general, antidepressant medications work due to their ability to 1.increase the amount of neurotransmitter in the neuronal synapse. 2.decrease the amount of neurotransmitter in the neuronal synapse. 3.increase reuptake of neurotransmitters into the presynaptic neuron. 4.increase the activity of the enzyme monoamine oxidase (MAO). •7. The son of a mother who has MDD has a risk of developing MDD at some point in his life. 1.100% 2.two- to fourfold greater 3.tenfold greater 4.one- to threefold lesser •8. Genetic research in MDD and BPD has 1.been able to isolate specific causative genes for these disorders. 2.identified a number of genes that may contribute to increased susceptibility to these disorders. 3.been successful in identifying specific genes that allow us to predict the success of pharmacologic treatment of MDD or BPD. 4.focused primarily on case studies involving twins. •9. Given the heritability of MDD, it is important during patient assessment that the nurse 1.identify depressive symptoms so appropriate laboratory tests can be drawn. 2.assume that if the patient has MDD other members of the immediate family will also have the disorder. 3.gather sufficient information from the patient to develop a three-generation pedigree chart. 4.reassure the patient that the presence of other illnesses has little effect on the degree of MDD that is experienced. •10. At present, genetic counseling about MDs is primarily concerned with 1.testing for specific genetic markers for depression. 2.estimating recurrence rate of disorders based on family history. 3.reassuring the patient that MDDs will not be passed on to future generations. 4.reassuring the patient that these diseases are primarily environmental in origin. PRETEST Answers: 1. C; 2. A; 3. D; 4. D; 5. B; 6. A; 7. B; 8. B; 9. C; 10. B

Pretest for chapter 9

•1. Professional nursing has a code of 1.social policy. 2.legal regulations. 3.financial rules. 4.ethics. •2. Nurses have a social contract with 1.doctors. 2.hospitals. 3.each other. 4.society. •3. An example of a specialty that developed technical advances without concurrent ethical guidelines is 1.assisted reproductive technology. 2.pharmacology. 3.surgery. 4.orthopedics. •4. The regulations that mandate the privacy of personal health care information are known as 1.GINA. 2.HIPAA. 3.Dodd-Frank. 4.the Affordable Health Care Act. •5. Public policy implications of the Human Genome Project are 1.mandated by law. 2.promulgated by regulation. 3.unique to genetics. 4.important sequelae of the scientific genetic discoveries. •6. Genetic testing on newborns 1.is standardized across the country. 2.is universal across the globe. 3.varies from state to state. 4.is covered by all forms of health insurance. •7. Nurses' actions related to patient confidentiality 1.are directed by individual institutional policy. 2.are discussed in the Code of Ethics. 3.are regulated by the State Boards of Nursing. 4.is based on the individual nurse's understanding of the specific situation. •8. Testing of children for definitive diagnosis of a genetic condition 1.requires informed parental consent. 2.is a routine practice that does not require informed parental consent. 3.can be performed if the child agrees to the procedure. 4.is not allowed under any condition. •9. Women consenting to prenatal genetic testing 1.use the information from testing to make informed decisions related to the future course of the pregnancy. 2.always terminate the pregnancy if they learn that the fetus is affected with a genetic condition. 3.always need to have the consent of the father of the baby before making the decision to terminate a pregnancy. 4.always need to have the consent of the father of the baby before undergoing genetic testing. •10. People who have a family history of an adult-onset genetic condition 1.are required to have genetic testing before they can purchase health or life insurance. 2.face significant discrimination in the workplace unless they can document they are not at risk for the condition. 3.should be required to have genetic testing before they attempt to become pregnant. 4.should be encouraged to make an informed decision about whether or not to be tested for the condition. 1. D; 2. D; 3. A; 4. B; 5. D; 6. C; 7. B; 8. A; 9. A; 10. D

Posttest chapter 11

•1. Results of a screen are considered to be false positive when 1.results are interpreted as negative when actually positive. 2.results are interpreted as positive when actually negative. 3.results are interpreted as positive when actually positive. 4.results are interpreted as negative when actually negative. •2. The degree to which a test measures what it claims to measure is called 1.validity. 2.reliability. 3.accuracy. 4.specificity. •3. In most newborn screens blood is taken from the infant by a(n) 1.antecubital stick. 2.heel stick. 3.finger stick. 4.arterial stick. •4. Ethics is the branch of philosophy that all includes of the following EXCEPT 1.values that pertain to human conduct. 2.moral reasoning about what is right actions. 3.determination of punishment for immoral actions. 4.correctness of personal and social actions. •5. Cystic fibrosis is an autosomal recessive disorder. A.True B.False •6. Congenital hypothyroidism falls into which of the following category of disorders? 1.Endocrine 2.Hematology 3.Metabolic 4.Other •7. Newborn screening programs fall under which level of governmental oversight? 1.Federal 2.State •8. The primary type of test used to analyze newborn screening results is 1.Acumeter. 2.MS/MS. 3.Polymerase chain reaction (PCR). 4.Radioallergosorbent test (RAST). •9. The only newborn screen not accomplished through a blood test is hearing. A.True B.False •10. A newborn disorder that is categorized in the core conditions as genetic is 1.congenital adrenal hypoplasia. 2.cystic fibrosis. 3.homocystinuria. 4.citrullinemia. 1. B; 2. A; 3. B; 4. C; 5. A; 6. A; 7. B; 8. B; 9. A; 10. B

Posttest chapter 19

•1. The diagnostic criteria for bipolar disorders include which of the following? 1.Periods of depression that alternate with periods of normal mood 2.Sustained elevation of mood mixed with periods of depression 3.Sustained depression of mood 4.Social isolation and avoidance of risk taking •2. The proposed mechanism of action for anticonvulsants in the treatment of bipolar disorder is through effects on 1.CLOCK. 2.CRY-1. 3.GSK-3. 4.HDAC. •3. The CLOCK gene regulates which homeostatic system? 1.The circadian system 2.Thermoregulation 3.Executive functions 4.Risk and reward perceptions •4. Lithium inhibits glycogen synthase kinase-3 (GSK-3). The end effect of this inhibition is 1.an increase in glycogen. 2.a decrease in glycogen synthase. 3.an increase in HDACs. 4.a decrease in HDACs. •5. The cryptochrome genes (1 and 2) are believed to play a role in the pathogenesis of bipolar disorder. What is the biologic significance of these genes? 1.They aid in transporting other proteins into the cell. 2.They aid in transporting other proteins out of the cell. 3.They influence the expression of GSK-3. 4.They influence the expression of serotonin. •6. Twin studies have demonstrated a degree of support for genetic variables in the development of bipolar disorder. Twin concordance for bipolar disorder ranges between 1.70%-80%. 2.40%-50%. 3.20%-30%. 4.10%-20%. •7. The patient with bipolar disorder should be screened for 1.increased sleep and decreased appetite. 2.pressured speech and decreased social exploration. 3.increased sleep and increased energy while awake. 4.increased risk taking and participation in pleasurable activities. •8. A defect in which of the following genes is most likely associated with the insomnia seen in bipolar disorder? 1.GSK-3 2.CLOCK 3.CRY-2 4.MAOA •9. A patient's family asks you about an article found on the Internet regarding genetic testing and bipolar disorder. The family states the article claimed an ability to identify highly permissive polymorphisms in 20% of the population. Your best response is 1.the percentage is closer to 9%. 2.the article is inaccurate. There are no reliable tests. 3.the percentage is closer to 40%, based on twin studies. 4.it depends on the number of SNPs in the CLOCK gene. •10. Which of the following neurotransmitters is associated with risk and reward perceptions? 1.Acetylcholine 2.GABA 3.Serotonin 4.Glutamate POSTTEST Answers: 1. B; 2. D; 3. A; 4. A; 5. A; 6. B; 7. A; 8. D; 9. B; 10. C

Pretest for chapter 15

•1. The first line of defense in protecting the body from infection includes all the following components EXCEPT 1.unbroken skin. 2.normal microbial flora. 3.phagocytic leukocytes. 4.secretions such as mucus. •2. Natural immunity is characterized as being 1.innate or inborn. 2.able specifically to recognize exogenous or endogenous agents. 3.able selectively to eliminate exogenous or endogenous agents. 4.part of the first line of body defenses against microbial organisms. •3. Delayed hypersensitivity is also referred to as 1.humoral immunity. 2.cell-mediated immunity. 3.B-cell hypersensitivity. 4.cytotoxic hypersensitivity. •4. The most immediate and severe manifestation of immediate hypersensitivity reaction is 1.anaphylaxis. 2.anaphylactoid. 3.itching. 4.sneezing. •5. Immediate hypersensitivity consists of the reactions primarily mediated by the class of immunoglobulins. 1.IgM 2.IgG 3.IgE 4.IgA •6. Components of the cellular natural immune system include 1.mast cells, neutrophils, and lymphocytes. 2.macrophages, mast cells, and neutrophils. 3.neutrophils, mucus, and mast cells. 4.mast cells, interferons, and neutrophils. •7. Components of the humoral natural immune system include 1.complement, lysozyme, and interferons. 2.lysozyme, mucus, and complement. 3.macrophages, complement, and lysozyme. 4.complement, lymphocytes, and lysozyme. •8. Another term for adaptive immunity is 1.antigenic immunity. 2.acquired immunity. 3.lymphocyte reactive immunity. 4.phagocytosis. •9. Humoral components of the adaptive immune system include 1.T lymphocytes. 2.B lymphocytes. 3.antibodies. 4.saliva. •10. Which type of antibody is capable of placental transfer? 1.IgM 2.IgG 3.IgA 4.IgD 1. C; 2. A; 3. B; 4. A; 5. C; 6. B; 7. A; 8. B; 9. B; 10. B

Posttest chapter 1:

•1. The most important source of genetic information can be gleaned from A.the results of genetic testing. B.newborn screening test results. C.buccal swabs. D.the family history. •2. Public health genetics/genomics information can be obtained from which website? A.CDC B.ANA C.ISONG D.NIH •3. The standards for nursing education in genetics for professional nursing programs are promulgated by: A.American Association of Colleges of Nursing B.National Institutes of Health C.Centers for Disease Control and Prevention D.American Medical Association •4. The interaction of medications and an individual's genetic makeup is the study of A.eugenics. B.genomics. C.pharmacogenomics. D.pharmacology. •5. The belief that all human responses to health and illness is caused by genetics is A.eugenics. B.genetic determinism. C.pharmacogenomics. D.genomics. 1. D; 2. A; 3. A; 4. C; 5. B

Posttest chapter 15

•1. The strength of a bond between a single antigenic determinant and an individual combining site is called 1.specificity. 2.affinity. 3.avidity. 4.immune complex. •2. The ability of an antibody to combine with one antigen instead of another is referred to as 1.immune complex. 2.affinity. 3.specificity. 4.avidity. •3. Antigens are characterized by all of the following EXCEPT 1.they are usually large organic molecules. 2.they are usually lipids. 3.they can be glycolipids or glycoproteins. 4.they are also called immunogens. •4. Antibodies are also referred to as 1.immunoglobulins. 2.haptens. 3.epitopes. 4.gamma globulins. •5. The strongest bond of antigen and antibody chiefly results from the 1.type of bonding. 2.goodness of fit. 3.antibody type. 4.quantity of antibody. •6. Immediate hypersensitivity consists of the reactions primarily mediated by the class of immunoglobulins. 1.IgM 2.IgG 3.IgE 4.IgA •7. This immunoglobulin is found in tears, saliva, colostrum, milk, and intestinal secretions. 1.IgM 2.IgG 3.IgE 4.IgA •8. Antigen presenting cells are typically . 1.T cells 2.macrophages 3.B cells 4.mast cells •9. The identification proteins on the surface of cells belong to a class of molecules called the 1.cytokines. 2.major histocompatibility complex. 3.interleukins. 4.interferons. •10. are cytokines that cause fever, temporarily maintaining a higher body temperature. 1.Interferons 2.Interleukins 3.Tumor necrosis factors 4.Collectins 1. B; 2. C; 3. B; 4. A; 5. B; 6. C; 7. D; 8. B; 9. B; 10. B

Posttest for chapter 13

•1. Tips for obtaining a comprehensive family health history include which of the following? 1.Ask specific questions of the individual and family. 2.Use leading questions to help the client remember the information. 3.Explain the purpose of the questions to the client. 4.Do not waste time socializing with the client before the interview. •2. A red flag in a family health history includes all of the following EXCEPT 1.several relatives who are affected with the same disease. 2.early sudden death of an individual. 3.a disorder that occurs later in life. 4.a child whose parents are closely related. •3. An example of a second-degree relative is a 1.mother. 2.grandfather. 3.cousin. 4.daughter. •4. The family history is considered the first risk assessment or genetic screen in primary care. A.True B.False •5. Barriers to obtaining a family health history include the following EXCEPT 1.many people do not know their family history. 2.multiple family members may want to contribute to the history. 3.family members may not want to reveal sensitive information such as alcoholism. 4.it may be difficult to identify disease patterns in small families. •6. In the pedigree of an individual with an autosomal dominant trait, one would observe 1.it is always inherited from the mother. 2.it does not skip generation. 3.it only affects females. 4.it only affects males. •7. Related individuals who have children together have a higher risk of having a child who is affected with a(n) condition. 1.mosaic 2.autosomal dominant 3.autosomal recessive 4.None of the above •8. A couple who are both carriers for sickle cell disease, an autosomal recessive disorder, is pregnant. What is the probability that their unborn child will be affected? 1.0% 2.25% 3.50% 4.100% •9. Consanguinity is displayed in a pedigree by 1.a double vertical line. 2.a double forward slash. 3.a double horizontal line. 4.a single back slash. •10. A pedigree that has only male family members (squares) who are affected is probably displaying a(n) disorder. 1.autosomal dominant 2.autosomal recessive 3.Y-linked 4.X-linked 1. C; 2. C; 3. B; 4. A; 5. B; 6. B; 7. C; 8. B; 9. C; 10. D

Pretest for chapter 18

•1. Which disease consistently accounts for highest mortality in the United States? 1.HIV infection 2.Cardiovascular disease 3.Diabetes mellitus 4.Cancer •2. Family history can provide information about 1.shared genetic risks for disease. 2.shared environmental risks for disease. 3.both shared genetic and environmental risks for disease. •3. Race is a very good indicator of an individual's genotype. A.True B.False •4. Candidate gene studies 1.select a gene for study based on a hypothesis about the gene's role in a disease. 2.do not require any prior knowledge about the gene. 3.are done by examining large families. 4.are no longer useful. •5. Most common diseases are 1.monogenetic. 2.polygenetic. 3.epigenetic 4.heritable •6. Epigenetic changes 1.are always permanent. 2.cannot be identified. 3.modify DNA to turn genes on or off. 4.All of the above •7. Most of the genetic linkages to Type 2 diabetes mellitus found in genome-wide association studies have involved genes associated with 1.insulin resistance. 2.obesity. 3.glucose metabolism. 4.development of pancreatic beta cells. •8. Which of the following common diseases can have a monogenetic cause? 1.Type 2 diabetes mellitus 2.Chronic Obstructive Pulmonary Disease 3.Hyperlipidemia 4.All of the above •9. In some cases, the same genes are associated with more than one common disease. A.True B.False •10. Better knowledge about genetic linkages to common diseases could improve care by 1.identifying ethnic groups with specific disease-associated genes. 2.improving the ability to tailor interventions. 3.enabling providers to select which patients to treat. 4.reducing costs for diagnostic tests. 1. B; 2. C; 3. B; 4. A; 5. B; 6. C; 7. D; 8. D; 9. A; 10. B

Posttest for chapter 5

•1. Which of the following is a reliable risk factor for the development of aneuploidy? 1.Cigarette smoking 2.Maternal age 3.Paternal age 4.Smog •2. How many chromosomes would be found in a patient with tetrasomy? 1.44 2.46 3.48 4.50 •3. Aneuploidy has relevance for human health due to the potential to 1.be an inheritable condition. 2.be difficult to detect prenatally. 3.lead to congenital defects that result in spontaneous abortion. 4.lead to a loss or excess of gene production. •4. The addition of two chromosomes is referred to as 1.trisomy. 2.monosomy. 3.tetrasomy. 4.mosaicism. •5. Which of the following forms of aneuploidy is most likely to result in survival of the fetus? 1.Nullisomy 2.Trisomy 3.Tetrasomy 4.Tetrasomy 9p •6. Nondisjunction is most likely to occur during 1.Meiosis I. 2.Meiosis II. 3.mitosis. •7. Which of the following is a syndrome associated with sex chromosomal aneuploidy? 1.Down syndrome 2.Edwards syndrome 3.Klinefelter syndrome 4.Patau syndrome •8. Nullisomy is the 1.loss of one chromosome. 2.loss of two chromosomes. 3.addition of one chromosome. 4.addition of two chromosomes. •9. The most common form of trisomy encountered in clinical practice is most likely to be 1.Down syndrome 2.Edwards syndrome 3.Patau syndrome 4.Turner syndrome •10. The development of cancer could be considered a form of 1.nonrandom aneuploidy. 2.random aneuploidy. 3.parsimony. 4.tetrasomy. 1. B; 2. C; 3. D; 4. C; 5. B; 6. A; 7. C; 8. A; 9. A; 10. A

Posttest for chapter 18

•1. Which of the following suggest that genetic linkages are important in common diseases? 1.There is phenotypic variation within common diseases. 2.Prevalence of disease does not differ among racial or ethnic groups. 3.Family history is a strong risk factor. 4.No candidate genes have been identified. •2. GWAS are a form of 1.candidate gene studies. 2.association studies. 3.novel genetic studies. D. linkage analysis. •3. Candidate gene studies 1.are best suited to identifying novel genetic associations with a disease. 2.can only be conducted following GWAS. 3.test hypotheses about the involvement of specific genes in a disease. 4.can only be done in humans. •4. Having a sibling who suffered from an early heart attack increases the risk of heart attack by 1.Twofold. 2.Fourfold. 3.Tenfold. 4.The risk is only increased if one's parent had a heart attack also. •5. Monogenetic forms of common diseases are common than polygenetic forms. 1.less 2.more 3.equally •6. Current well-developed risk calculators for common diseases already incorporate genetic testing into risk calculations. A.True B.False •7. Epigenetic changes 1.may be influenced by environmental factors. 2.may directly influence disease occurrence and progression. 3.may reflect factors causing disease. 4.All of the above •8. Testing for genotype is most feasible in forms of common diseases. 1.monogenetic 2.polygenetic •9. In most cases, risk for common diseases is 1.inherited in a Mendellian pattern. 2.increased by genetic susceptibility. 3.not associated with environmental factors. 4.unpredictable. •10. Whole genome sequencing of individuals may enable 1.detection of rare genetic variants in individuals. 2.determination of epigenetic influences. 3.refinement in racial and ethnic groupings. 4.examination of the influences of environment on genetics. 1. C; 2. B; 3. C; 4. A; 5. A; 6. B; 7. D; 8. A; 9. B; 10. A

Posttest chapter 7

•1. Which one of the following genetic disorders is an example of imprinting? 1.Duchene Muscular Dystrophy 2.Factor V Leiden 3.Prader-Willi syndrome 4.Tay-Sachs •2. Which one of the following symptoms is associated with Fragile X? 1.Autism 2.Obesity 3.Short stature 4.Delayed puberty •3. The newborn screen assesses primarily for metabolic and hemoglobinopathies disorders that are considered 1.autosomal recessive. 2.autosomal dominant. 3.X-linked recessive. 4.mitochondrial. •4. All of the following describes mosaicism EXCEPT 1.Somatic mosaicism can result in less severe clinical manifestation of a single gene defect 2.Disorders like Duchene muscular dystrophy , osteogenesis imperfecta and hemophilia have been associated with mosaicism 3.The mutation is present in all of the germline cells 4.The mutation is present in proportion of the gonadal cells •5. What single gene disorders can cause mental retardation? (Select all that apply.) 1.Phenylketonuria 2.Congenital hypothyroidism 3.Sickle cell disease 4.Achondroplasia •6. Consanguinity is an important issue in which inheritance pattern? 1.Autosomal dominant 2.Autosomal recessive 3.X-linked recessive 4.X-linked dominant •7. Which type of Mendelian inheritance is never transmitted from father to son? (Select all that apply.) 1.Autosomal dominant 2.Autosomal recessive 3.X-linked recessive 4.Mitochondrial inheritance •8. All of the following characteristics describe osteogenesis imperfect EXCEPT 1.the majority of the types are autosomal dominant. 2. deafness is common. 3.frequent fractures. 4.mental retardation. •9. Maple syrup urine disorder and PKU are inborn errors of metabolism, and if undiagnosed can cause all of the following EXCEPT 1.mental retardation and seizures. 2.anemia. 3.hyptonia. 4.death. •10. What are the 2 autosomal recessive disorders mandated in 50 states to screen in the newborn screen at 48 hours of life? 1.Congenital hypothyroidism and PKU 2.PKU and sickle cell disease 3.Cystic fibrosis and congenital hypothyroidism 4.Turner syndrome and Fragile X •11. Which of the following symptoms are found in Marfan syndrome? 1.Brushfield spots 2.Shield chest with wide space nipples 3.Six or more café au lait macules 4.Pectus excavatum in the sternum •12. A mom discovered that she is pregnant with a male child. There is a maternal family history of factor VIII hemophilia (X-linked recessive disorder). What will you tell this patient regarding genetic transmission? 1.There is 25% chance of transmission. 2.There is 50% chance of transmission. 3.There is 0% of chance of transmission. 4.There is 100% chance of transmission. •13. Which of the following characteristics of Fragile X is true? 1.It only affects males. 2.It is the most common hereditary cause of mental retardation. 3.Most individuals die in infancy. 4.Physical disabilities are common. •14. The physical exam of a 6-year-old identifies seven smooth-bordered, light brown lesions measuring > 0.5 cm and irregular. To confirm neurofibromatosis, what other physical findings should be present? 1.Cataracts and axillary freckling 2.Dysmorphic facial features and low set ears 3.Errors of metabolism 4.Gait anomaly and paralysis •15. Which of the following is an X-linked dominant condition? 1.Cystic fibrosis 2.Hemophilia 3.Rett syndrome 4.Alkaptonuria •16. Which of the following terms refers to the fact that different people with the same genotype can have variety in phenotype? 1.Reduced penetrance 2.Variable expressivity 3.Incomplete dominance 4.Co-dominance •17. What is the most likely explanation for a set of unaffected parents having two children with a highly penetrant, autosomal dominant disorder? (Select all that apply.) 1.Variable expressivity 2.Co-dominance 3.Germline mosaicism in one of the parents 4.Reduced penetrance •18. Autosomal dominant conditions are due to loss of a genetic function or deficiency of an enzyme in the metabolic pathway, which often presents early on in the newborn period. A.True B.False •19. Anticipation is a finding in a genetic disorder in which the severity of a phenotype increases and age of onset decreases as some genetic disorders are passed through families. A.True B.False •20. Which of the following is true about mitochondrial inheritance? 1.There is heteroplasmy or homoplasmy. 2.The mitochondria segregate randomly as cells divide. 3.Mitochondria are maternally inherited. 4.The disorder occurs in high energy organs like the heart and kidney. 5.All of the above •21. A process that can greatly affect the presentation of an X-linked phenotype in carrier females is 1.interfering mutations. 2.X-inactivation. 3.mitochondrial disorders. 4.recombination. Answer: 1. C; 2. A; 3. A; 4. C, 5. A, B; 6. B; 7. C, D; 8. D; 9. B; 10. A; 11. D; 12. B; 13. B; 14. A; 15. C; 17. C, D; 18. B; 19. A; 20. E; 21. B

posttest chapter 21

•1. Withdrawal symptoms can occur 1.only when stopping use of a substance. 2.when stopping or reducing use of a substance. 3.only when the client exhibits a clinically significant decrease in diastolic blood pressure. 4.when the client has been clean and sober for over a year. •2. Antihistamines sold over the counter 1.can be associated with substance abuse disorders. 2.provide withdrawal symptoms in clients with a defined mu receptor type. 3.provoke withdrawal symptoms in clients with a defined nucleotide polymorphism. 4.cannot be associated with substance abuse disorders. •3. The largest and most powerful influences on alcoholism are 1.environmental factors. 2.emotional factors. 3.behavioral factors. 4.genetic factors. •4. People who are dependent on opioids 1.may have adaptive changes affecting cellular functioning in the central nervous system following chronic use. 2.may have adaptive changes affecting cellular functioning in the nucleus accumbens after chronic use. 3.may have adaptive changes affecting cellular functioning in the thyroid gland after chronic use. 4.often have peripheral neuropathies after chronic use. •5. Someone with addictive genetics 1.needs reduced reward experiences to feel satisfied. 2.needs the same level of reward experiences as other people to feel satisfied. 3.may need increased reward experiences to feel satisfied. 4.is likely to have stronger inhibitory mechanism than someone without addictive genetics. •6. Effective substance abuse treatment 1.usually needs to focus on a single factor. 2.usually needs to focus on reducing reward. 3.usually focuses on reducing inhibitory mechanism activation and functioning. 4.usually needs to focus on a multiple factors. •7. As compared to SNP technology, RFLP technology is 1.more useful. 2.less useful. 3.obsolete. 4.more likely to focus on single nucleotide polymorphisms. •8. All of the following are appropriate nursing interventions for a client at high risk for alcoholism EXCEPT 1.defining weaknesses in stress responses. 2.teaching ways to improve resilience to adversity. 3.assisting the client in developing ways to increase support systems. 4.teaching the client to avoid all pharmacologic agents. •9. The type of nursing intervention appropriate for people with alcohol dependence is determined in part by 1.the desire of the person to be in a recovery process. 2.the suitability for gene therapy. 3.the nurse's preference. 4.the person's blood type. •10. Addictive behaviors are 1.multifactorial in origin. 2.single factorial in origin. 3.unrelated to genetics. 4.determined only by the environment. POSTTEST Answers: 1. B; 2. A; 3. D; 4. A; 5. C; 6. D; 7. A; 8. D; 9. A; 10. A

Punnett Squares Dominant Criteria for Autosomal dominant trait

•A dominant trait is expressed when only one copy (heterozygosity) of an autosomal allele is present. •Males and females transmit the trait with equal frequency. •A dominant trait does not skip generations. •If no one in a generation is affected, the transmission of the trait stops. •Affected individuals have a 50% chance of passing the gene to each of their children.

Punnett Squares Recessive Criteria for an autosomal recessive trait:

•A recessive trait is expressed when two copies (homozygosity) of an autosomal allele is present. •Individuals who are heterogyotes (having two different alleles of a gene) for the gene are carriers of that trait. •Children born to parents who are carriers of the gene (heterozygous) have a 25% chance of having the disease, a 25% chance of not having the disease and not being a carrier, and a 50% chance of being a carrier. •Males and females can be affected. •Affected males and females can transmit the disease if they live long enough to reproduce. •The trait can skip generations.

Consanguinity

•Consanguinity is the mating of individuals who are "blood" relatives. •This increases the likelihood that harmful recessive traits will be combined and passed on to children. •Genetic diversity is decreased in a population that practices consanguinity.

Posttest for chapter 2

•The public health core functions include three specific types of activities. Name them. •Which of the following are considered to be essential public health services? A.Monitor health status to identify community health problems. B.Inform, educate, and empower people about health issues. C.Diagnose and investigate health problems in a community. D.Develop policies and practices that support individual and community health efforts. E.Evaluate effectiveness, accessibility, and quality of personal and population-based health services. F.All of the above •The human genome contains approximately A.15,000 genes B.25,000 genes C.50,000 genes D.100,000 genes •Which of the following are determinants of health and illness? A.Genetic/genomic factors B.Environmental factors C.Behavioral factors D.All of the above E.A and B, above •Systems development/program planning, implementation, and evaluation could include which of the following? A.Collecting, analyzing, and summarizing data relevant to genetic/genomic health care issues or problems B.Understanding relevant local, state, and federal laws and regulations C.Identifying policy and/or legislative options D.Articulating the economic, ethical, legal, social, political, and administrative implications of policy decisions; e.g., legislative and executive options/actions E.Utilizing methods of monitoring and evaluating quality and effectiveness of health care systems and/or programs (quality assurance) F.All of the above • Diversity refers to differences that distinguish individuals and/or groups from one another. A.True B.False • When performing a nursing assessment, registered nurses should be able to elicit a minimum, three-generation family health history and also construct a pedigree from that information using standardized symbols and terminology. A.True B.False •Financial planning and systems management could include which of the following? A.Development and dissemination of budget information B.Managing problems and/or issues within budgetary constraints C.Creating, implementing, and analyzing program performance measures D.Writing and overseeing grant proposals and contracts E.Hiring, managing (including team building, scheduling, and conflict resolution) and evaluating personnel F.All of the above • Registered nurses need not recognize their own attitudes and values related to genetic and genomic services and information when providing care to clients. A.True B.False • Regardless of academic preparation, practice setting, role, or specialty, there are numerous opportunities for registered nurses to utilize genetics/genomics services and information to understand and promote health and well- being, lower morbidity and mortality, and prevent diseases and disability. A.True B.False 1. Assessment; Policy Development; and Assurance; 2. F; 3. B; 4. D; 5. F; 6. A; 7. A; 8. F; 9. B; 10. A

Criteria for an x linked dominant trait:

•X-linked dominant traits are rare. •These are characterized by disorders whose causative genes are carried on the X chromosome. •These are seen more often in males because they have only one copy of the gene. •These may be more severe or fatal in males. •These pass from father to all daughters but not to sons.

Criteria for an x linked recessive trait:

•X-linked recessive traits are almost always expressed in the male. •An affected father and a mother who is affected or is a carrier can pass the trait to a daughter. •Females would need two copies of the gene (homozygous) to express the X-linked trait. •The trait is passes from a heterozygous or homozygous mother to son