Patho Exam 1
The genotype for both parents is heterozygous dominant. For any given autosomal recessive disorder, each offspring has a what percent chance of carrying the defected gene?
50%
Incarcerated individuals exposed to an infected tuberculosis patient is likely at risk for what kind of necrosis?
Caseous
A child is diagnosed with cystic fibrosis. History reveals that the child's parents are siblings. Cystic fibrosis was most likely the result of:
consanguinity
What is the most common autosomal recessive disorder in Caucasians?
cystic fibrosis
Atrophy
decrease tissue size
Histamine is released during the inflammatory process. What is the primary/main effect of histamine?
dilation of arterioles
A 55-year-old male with a long history of reflux disease presents to the surgical suite for an upper endoscopy and biopsy. Pathology reports that stratified squamous epithelium have replaced columnar tissue at the gastroesophageal junction. This form of adaptation is best described as
metaplasia
Neoplasia
new growth; often imply cancerous
Homologous chromosomes failing to separate during meiosis is termed
nondisjunction
Phenotype
observable characteristics of an individual resulting from the interaction of its genotype and environmental factors
Recessive gene
often masked and required two alleles to express the phenotype
Metaplasia
one adult tissue type is replaced by another adult tissue type
The probability of a gene or a trait being expressed is
penetrance
Carrier
possess a defective gene but doesn't show symptoms of the disease
What is a characteristic of apoptosis?
programmed cell death
Cytokines are:
protein cell products that act as a message to other cells, i.e., providing other cells with instructions
The probability that an individual will develop a genetic disease is
recurrence risk
Hypoxemia
reduced oxygen in the blood
Dominant gene
requires only one allele to express the phenotype
Signs and Symptoms of sickle cell disease
splenomegaly, severe pain during crisis event, retinopathy
Treatment for cancer includes
surgical excision radiation immunotherapy chemotherapy
Genotype
the genetic makeup of an individual cell or organism
Cystic fibrosis is an autosomal recessive disorder that primarily affects
the lungs and pancreas
When the nurse is teaching the staff about X-linked recessive disorders, what statements are most appropriate and key teaching points?
the trait is seen primarily in males the trait is never transmitted from father to son the gene can be transmitted by a female carrier the gene is passed from an affected father to all his daughters
Gangrenous
tissue hypoxia with superimposed bacterial infection
Edema results from:
vasodilation and an increase in hydrostatic pressure
A 45-year-old female presents to her dermatologist complaining of a non-healing, chronic infective lesion on he right leg. The lesion was biopsied and the pathology report reads: granulomatous lesion, with a rim of multinucleated giant cells. What type of necrosis would these findings be consistent with?
Caseous necrosis
Infarct
Cell death from ischemia
A 73-year-old man suffers a "stroke". On physical examination he cannot move his right arm. A cerebral angiogram demonstrates occlusion of the left middle cerebral artery. An echocardiogram reveals a thrombus within a dilated left atrium. What is the most likely pathologic alteration from this event that has occurred in his brain?
Cerebral softening from liquefactive necrosis
What event induces inflammation?
Chemical mediators produced by host cells in response to injurious stimuli
A 2-year-old swallowed a watch battery. Following ingestion, kidney function was impaired, and the heart began to fail. Which of the following is the most likely cause?
Coagulative Necrosis
Name potential sequelae (outcomes) from acute inflammation
Complete resolution Chronic infection Fibrosis (scarring)
A nurse in the emergency department admits a male patient who has experienced severe frostbite to his hands and toes after becoming lost on a ski hill. The nurse recognizes that which of the following phenomena has contributed to his tissue damage.
Decreased blood flow has induced hypoxia
During a review session, the student recalls that apoptosis is a condition in which cells program themselves to:
Die
Alleles
Different versions of DNA sequence at a given genomic location
A patient demonstrates mental retardation caused by nondisjunction at chromosome #21. What genetic disorder will the nurse see documented on the chart?
Down Syndrome
Signs and Symptoms of hemophilia
Factor VIII deficiency, sons of carriers have a 50% risk of being affected
A 50-year old diabetic presents to the ER with an infected wound from an above the knee amputation 7 days prior. The culture reveals that the wound was infected with Clostridium bacteria. The patient succumbs to the infection and dies a week later. What is the most likely cause of death?
Gas gangrene
Sex-Linked Recessive Disorders
Hemophilia Duchenne Muscular Dystrophy Red-Green color blindness Alport Syndrome
Which of the following disorders is manifested primarily in males?
Hemophilia A
A 19-year-old woman gives birth to her first child. She begins breastfeeding the infant. She continues breastfeeding for almost a year with no difficulties and no complications. Which cellular process began in the breast during pregnancy allowed her to nurse the infant for this period of time?
Hyperplasia
A 26-year-old female presents to her obstetrician for a follow-up visit. As a direct consequence of her pregnancy, her breasts have enlarged. The breast enlargement is a consequence of:
Hyperplasia
After ovulation, the uterine endometrial cells divide under the influence of estrogen. This is an example of hormonal:
Hyperplasia
A 20-year-old woman had Goodpasture syndrome which progressed to chronic renal failure. She was 165 cm tall and weighed 55kg. She is hypertensive and had blood pressure measurements in the range of 150/90 to 180/110 mm Hg, but she did not regularly take medications. Laboratory studies showed her blood urea nitrogen was over 100 mg/dL. She required chronic dialysis. She died from heart failure. At autopsy, her heart weighed 540 gm (normal 250-350gm). The size of her heart is most likely to be the result of what process involving myocardial fibers?
Hypertrophy
A middle-age male was stated on a physical training regimen. In response to an increase in workload, the myocardium will undergo physiological:
Hypertrophy
A proto-oncogene is best defined as what kind of gene?
Normal
Autosomal Recessive Disorders
Phenylketonuria Cystic Fibrosis Sickle Cell Anemia Tay-Sachs Disease
Apoptosis
Physiological, programmed cell death
Gene
a sequence of nucleotides in DNA or RNA and is the basic unit of inheritance
Locus
a specific, fixed position on a chromosome where a particular gene or genetic marker is located
A 26-year-old man died from complications of destruction of the aortic valve by large, irregular vegetation from which Staphylococcus aureus was cultured. At autopsy, the spleen on sectioning grossly reveals the presence of a tan to white, wedge-shaped 1.5 x 3 cm lesion with base on the capsule. The splenic findings are most likely to result from which cellular abnormality?
coagulative necrosis
Males are more likely than females to be affected by what kind of disorders?
X-linked
Liquefactive
injury to the central nervous system
Coagulative necrosis is caused by
interrupted blood supply
Both parents are heterozygous dominant (Dd) for an autosomal dominant disease. What is the probability of producing a heterozygous dominant (Dd) offspring?
50%
Reperfusion injury to cells:
involves formation of free radicals
Both parents are heterozygous dominant (Dd) for an autosomal dominant disease. What is the probability of producing a homozygous dominant (DD) offspring?
25%
Both parents are heterozygous dominant (Dd) for an autosomal dominant disease. What is the probability of producing a normal homozygous recessive (dd) offspring?
25%
For any given autosomal recessive disorder, each offspring has a what percent chance of developing the disease?
25%
The most important risk factor for trisomy 21 is females over the age of
35
A 25-year-old woman has a workup for infertility. She has never experienced menarche. On physical examination she is short, with a broad chest and a webbed neck. She has normal intelligence. A blood sample is obtained for chromosome analysis. Which of the following karyotypes is he most likely to have?
45, X She's missing an X and a chromosome because she has Turners
Both parents are heterozygous dominant (Dd) for an autosomal dominant disease. What is the probability of producing an offspring with the disease?
75%
Hypoxia
A state of reduced oxygen in the tissue
A 25-year-old male presents to the ER complaining of painful urination for the past 24 hours. He states: "I am peeing fire, Doc!" Examination and culture were consistent with gonococcal urethritis by Neisseria gonorrhea. What type of tissue response is consistent for this patient>
Acute inflammation
A clinical study is performed of patients with pharyngeal infections. The most typical clinical course averages 3 days from the time of onset until the patient sees the physician. Most of these patients experience fever and chills. On physical examination, the most common findings include swelling, erythema, and pharyngeal purulent exudate. What type of inflammation did these patients most likely have?
Acute inflammation
What type of cell death can be both physiological and pathological?
Apoptosis
A patient wants to know the risk factors for Down syndrome. What is the nurse's best response?
Increased maternal age
Ischemia
Insufficient blood flow to the tissues
What genetic disorder is the result if an individual possess an XXY chromosome configuration?
Klinefelter
A 59-year-old woman had loss of consciousness that persisted for over an hour. When she becomes arousable, she cannot speak nor move her right arm or leg, and symptoms consistent for a cerebral vascular accident (stroke). A cerebral angiogram revealed an occlusion to her left middle cerebral artery. Months later, a computed tomographic (CT) scan shows a large 5 cm cystic area in her left parietal lobe cortex. This CT finding is most likely the consequence of resolution from what cellular event?
Liquefactive necrosis
Autosomal Dominant Disorders
Marfan's Syndrome Neurofibromatosis Huntington's Disease von Willebrand's Disease
What are some biochemical mechanisms of cellular injury?
Mitochondrial damage and dysfunction with resulting ATP depletion, efflux of calcium, damage to DNA and protein synthesis, and an accumulation of reactive oxygen species
Coagulative
Strong correlation to ischemia and hypoxia
Name some events that can lead to chronic inflammation
Syphilis Autoimmune Prolonged exposure to intravenous drug abuse Tuberculosis
Chromatin
The complex of DNA and protein found in eukaryotic cells. Its primary function is packaging long DNA molecules into more compact, denser structures
Which of the following statements is most correct for autosomal dominant disorders?
The disease will often manifest later in life
When the heart's workload increases, what changes occurs to the myocardial cells?
They increase in size
Aneuploidy Disorders
Turner Syndrome Down Syndrome Trisomy 13/Patau Syndrome Klinefelter Syndrome
A 13-year-old girl has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present. What medical diagnosis will the nurse observe on the chart?
Turner syndrome
A 5-year-old boy was playing in the backyard when he was bitten by a "bug." He complains to his mother that the site was itchy. Mom notes a well circumscribed area of redness. What causes the erythema?
Vasodilation
Signs and Symptoms of Klinefelter Syndrome
infertility secondary to testicular atrophy, lack of facial hair, gynecomastia
Dysplasia
abnormal growth, size, and shape
A father affected with hemophilia A, whose wife is unaffected (not a carrier) will pass on the defective gene to:
all of his daughters, who will be carriers
A cell that does not contain a multiple of 23 chromosomes is called a
aneuploid cell
Signs and Symptoms of huntington disease
artistic movement of the limbs, depletion of an inhibitory neurotransmitter, gene located on chromosome 4
Fat Necrosis
associated with acute pancreatitis
Cystic fibrosis is caused by what gene abnormality?
autosomal recessive
Hypertrophy
increasing cell size without increase cell numbers
Hyperplasia
increasing in size by increasing in cell numbers
Necrosis
cell death from any causation
What information indicates a nurse understands characteristics of malignant tumors?
cells vary in size and shape
Signs and Symptoms of down syndrome
epicanthal folds, flat occiput, risk increases with maternal age
The variation in phenotypic expression:
expressivity
A 40-year-old woman has the sudden onset of severe abdominal pain. On physical examination she has diffuse tenderness in all abdominal quadrants, with marked guarding and muscular rigidity. She has laboratory findings that include serum AST of 43 U/L, ALT of 30 U/L, LDH 630 U/L, and lipase 415 U/L. An abdominal CT scan reveals peritoneal fluid collections and decreased attenuation along with enlargement of the pancreas consistent of pancreatitis. What cellular changes is most likely to accompany these findings?
fat necrosis
Caseous
granulomatous reaction
Inflammation is characterized by:
heat, pain, redness, and swelling
Liquefactive necrosis occurs in the brain because
it is rich in hydrolytic enzymes and lipids
What organs are affected by the type of necrosis that results from hypoxia caused by severe ischemia or caused by chemical injury?
kidneys and heart
A patient has a tissue growth that was diagnosed as cancer. What term best describes this growth?
malignant tumor
A 43-year-old man has complained of mild burning substernal pain following meals for the past 3 years. Upper GI endoscopy is performed and biopsies are taken of an erythematous area of the lower esophageal mucosa 3 cm above the gastroesophageal junction. There is no mass lesion, no ulceration, and no hemorrhage noted. The biopsies show the presence of columnar epithelium with goblet cells (normal tissue is stratified epithelium). What mucosal alteration is most likely represented by these findings?
metaplasia