BIO-245 Ch 22: Congenital & Childhood Disorders Pop Quiz&Challenge Questions

22.33 What is the most common cause of neonatal conjunctivitis (is a purulent inflammatory reaction of the conjunctiva) ?

(p. 735) Chlamydia trachomatis, gonorrhea, or another sexually transmitted infection acquired from the mother.

18. Compare & contrast choristoma versus hamartoma.

(p. 737) Choristome (ectopic rest) is a common benign nodule of normal tissue in an abnormal location. Hamartoma is a benign neoplastic growth composed of tissue elements normally found at that side, but which are growing in a disorganized mass.

16. What are the 4 types of proteins? Give examples in each of these categories.

(p.722) The protein coded by a gene can be 1 of 4 types: 1. Enzymes & proteins that regulate enzyme activity. 2. Membrane receptor and transport proteins. 3. Proteins that regulate cell growth. 4. Structural, coagulation, and other proteins.

22. How do the actions of tumor suppresor and protooncogenes/oncogenes differ in causing neoplasms?

(p.723) Proto-oncogenes are normal genes that promotes cell growth in a normal physiologic setting. They are opposed by tumor suppressor genes, which inhibit cell growth. When a mutation occurs in a proto-oncogene, it is then called an oncogene. The oncogene is capable of driving cells to undergo unlimited replication and also allowing the cells to escape the control of a tumor suppressor (brakes). An example of this disease: neufibromatosis type I (von Recklinghausen disease, is an autosomal recessive disorder of a tumor suppressor gene).

22.26 What is the primary drawback of the triple test?

(p.729-730)Triple test is genetic screening that can be obtained as earl as the 15th week of pregnancy. This screening looks for levels of hormones & a fetal protein that may indicate risk of genetic abnormalities. However, it can't be used to access for congenital anomalies until fetal structures have developed sufficiently, usually by 18 weeks.

22.29 How is gestational age calculated?

(p.731) by counting from the first day of the LMP (Last Menstrual Period).

22.28 Define prematurity.

(p.733) birth before the first day of the 38th week of gestation. Most premature infants are low weight too, but the most critical aspects is time cause it takes time for organs to mature.

22. 32 What activity of nervous system is affected by cerebral palsy?

(p.733) motor impairment.

22.34 Define neonatal sepsis.

(p.735) systemic infection spread by the bloodstream

22.38 What is suspected as the probable cause of SIDS (Sudden Infant Death Syndrome)?

(p.737) defective brain respiratory control is suspected.

22.23 Provide an example of a multifactorial disease.

- Type 2 diabetes - cleft lip - congenital heart disease

22.27 How can fetal cells be obtained for analysis before birth?

- amniocentesis (neddle aspiration of amniotic fluid / placental biopsy), performed as early as 15 weeks. - chorionic villus sampling (CVS), carries more risk but can be employed earlier than amniocentesis.

22.10 Name the 2 types of chromosomes.

- autosomes (22 pairs) - sex chromosomes (1 pair), determine the sex of fertilized ovum as well as some other characteristics.

22.11 Name the 2 types of human cells.

- somatic cells - germ cells

Defects typically arise from failure of:

-embryological space to close properly -tissue to divide -embryological structure to disappear normally -organ to differentiate or grow

1) An autosomal trait is expressed by a gene located on ....

1 of the 44 autosomes.

22.15 Name the 3 Mendalian categories for the inheritance of single-gene defects.

1. Autosomal dominant 2. Autosomal recessive 3. Sex linked recessive

22.13 What are the 3 ways genetic material may influence the development of disease? There are 3 categories of genetic effect in disease:

1. Monogenic (single-gene) defects. 2. Polygenic (multi-gene) influence. 3. Cytogenetic defects.

2. The decidua is which of the following? A. Endometrium that is thickened and modified by the effect of progresterone. B. Fetal urine and a small amount of fluid and cell debris issuing from the fetal bowel. C. A maternal blood vessel that serves as an exchange device for transfer of nutrients and oxygen. D. Composed of finger-like projections containing fetal blood vessels that extend into lakes of maternal blood.

A (p.709) The placenta is composed of an outer layer maternal and an inner layer of fetal tissue. The maternal portion is decidua, uterine endometrium that is thickened and modified by the effect of progresterone.

7. Which of the following is true of Gaucher disease? A. It results from defect in the gene that codes for an enzyme that metabolizes glucocerebroside. B. It's a genetic condition in which that affected enzyme normally converts muscle glycogen into glucose. C. It's an autosomal dominant disease. D. In conjuction with cigarette smoke, it results in severe autodigestion of aveoli, which it turn results in emphysema.

A (p.723) Gaucher disease is an example of an autosomal recessive disease caused by accumulation of unmetabolized substrate.

19. A 17 year-old woman presents to your office complaining of amenorrhea (she has never had a period). On physical exam, you note her short stature (=a person's height or the high level of respect with which she is regarded), her webbed neck, and a broad flat chest with widely separated nipples. What syndrome is this patient suffering from? A. Turner syndrome. B. Klinefelter syndrome. C. Down syndrome. D. CF (Cystic Fibrosis).

A (p.728)

8. Which of the following is the most common cause of prematurity? A. Unknown. B. Rupture of membranes. C. Multiple gestations. D. Relaxed / incompetent cervix.

A (p.713) The cause of most defects is unknown, include smoking, alcohol or other drug abuse, poor nutrition, poorly controlled diabetes, and a wide variety of other maternal factors. In my own opinion, it should be low birth weight, not mature, birth defects (p.517) Premature birth:

27. What are the risk factors associated with SIDS?

Although sudden infant death syndrome can strike any infant, researchers have identified several factors that might increase a baby's risk. They include: - Sex: Boys are slightly more likely to die of SIDS. - Age. Infants are most vulnerable between the second and fourth months of life. - Race. For reasons that aren't well-understood, nonwhite infants are more likely to develop SIDS. - Family history. Babies who've had siblings or cousins die of SIDS are at higher risk of SIDS. - Secondhand smoke. Babies who live with smokers have a higher risk of SIDS. - Being premature. Both being born early and having a low birth weight increase your baby's chances of SIDS.

14. Describe the purpose of the amniotic sac, the placenta, and the umbilical cord.

Amniotic sac is a thin fluid filled membrane that surrounds and protects the developing embryo. The umbilical cord is a rope like structure that connects the embryo and the mother's placenta. The placenta is an organ that develops in your uterus during pregnancy. This structure provides oxygen and nutrients to your growing baby and removes waste products from your baby's blood.

6. Which of the following statements about Down Syndrome patients is correct? A. Down syndrome patients have a decreased likelihood of developing Alzheimer disease. B. It's the most common cause of mental retardation. C. It's always caused by 3 copies of chromosomes 21, 2 paternal copies, and 1 maternal copy. D. Infants are at increased risk for cardiac and intestinal manifestations, but have no increased risk of malignancy.

Answer: B C is False; it's 2 maternal and 1 paternal copy

9. 36 hous after birth, an infant presents with lethargy, jaundice, failure to suckle, vomiting, and diarrhea. You suspect he has which of the following? A. Neonatal conjuncvitis. B. Neonatal sepsis. C. Neonatal hepatitis. D. Neonatal cholestasis.

B

26. Describe the complications faced by premature infants.

Because premature babies are born before they are physically ready to leave the womb, they often have health problems. These newborns have higher rates of disabilities (such as cerebral palsy) and even death.

4. Which of the following time points is correct? A. An infant is premature if born before 36 weeks. B. Most birth defects occur in the first trisemester, usually within the first eight weeks. C. A fetus is post-term after week 42. D. The perinatal period is from the 28th week of the pregnancy until birth.

C

5. Which of the following organisms is not included in the TORCH infections? A. Toxoplasmosis. B. Cytomegalovirus. C. HPV. D. Herpesvirus. E. Rubella.

C. HPV. The "O" stands for "other" and includes things like syphilis, hepatitis B, AIDS, and many others.

3. Conditions caused by mechanical factors that distort an otherwise normal fetus are known as which of the following? A. Inherited defects. B. Malformations. C. Genetic mutations. D. None of the above.

D It's deformations.

22.2 What are the names of the 3 embryonic germ layers?

Endoderm, Mesoderm, Ectoderm

10. T/F? An embryo becomes a fetus at 7 weeks.

False, the first 8 weeks it is still the "embryo"

22.35 T/F? Most infections of infants & children are caused by bacteria.

False; (p.735) Childhood infections are the most common causes of childhood illness, and most of it is viral!!!!

22.40 T/F? The most common lymphoma/leukemia of childhood is acute granulocytic leukemia

False; (p.737) Leukimia & lymphoma = 40%, the most common od these is acute LYMPHOCYTIC leukemia.

22.14 T / F? Cytogenetic disease is caused by a point mutation in a single gene.

False; cytogenetic disease is caused by large scale abnormality of chromosomes. (p.718)

22.39 T/F? Malignant neoplasms are the most common cause of childhood death.

False; fatal accidents are more common; malignant neoplasms are the second most common cause of childhood death.

15. What are the mechanisms of genetic inheritance? Give examples.

Genetic characteristics are inherited as genes; molecules of DNA that carry the information for each characteristic. A phenotypic characteristic can be controlled by various forms of one gene, such as for freckles, or can be controlled by various forms of multiple genes working together, such as for skin color.

Chapter Challenge Recall 1. Mesoderm gives rise to which of the following? A. Bone, muscle, blood cells, kidneys, gonands, heart and blood vessels, dermis, and connective tissues. B. Epithelial lining of the intestinal and respiratory tracts, the endocrine glands, and the liver & pancreas. C. Epidermis, tooth enamel, and nervous tissue. D. All of the above.

I think is A? (p. 18) Mesoderm differentiate into the the deep layer of skin (dermis), bone, skeletal muscle, blood vessels, smooth muscles (including the muscular wall of the gastrointestinal tract), pleura, peritoneum, pericardium, kidneys, and gonads.

22.1 How long is normal pregnancy?

In humans, the length of normal pregnancy is 40-42 weeks, or 280-294 days.

24. Compare and contrast expressivity and penetrance. Consider these terms in the context of CF.

It's the same as question 22.16 I think :)

17. Define small & LGA (Large for Gestational Age).

Large for gestational age (LGA) is an indication of high prenatal growth rate. Although big babies are at higher risk for shoulder dystocia, most cases of shoulder dystocia happen in smaller babiesbecause there are many more small and normal-size babies being born than big babies.

22.19 Which type of protein is affected if a gene defect causes an growth of a tumor?

Proto-oncogenes are normal genes that promote cell growth in a normal physiologic setting. They are opposed by tumor supressor genes, which inhibit cell growth. When a mutation occurs in a proto-oncogene, called oncogene, it can drive cells to replicate unlimitedly without supressor (brakes). For example: neufibromatosis Type I (von Recklinghausen disease) is an autosomal recessive disorder of a tumor suppressor gene.

22.9 Name 2 ways that smoking harms a developing embryo / fetus.

Smoking deprives the fetus of oxygen and exposes it to toxins. It cause tissue damage to the fetal lungs and brain, and some evidence suggests a link between maternal smoking and cleft lip. It also increase the risk for spontaneous abortion, low birth, and premature birth.

22.8 Name the 3 varities of teratogens. The most common infectious teratogens are:

TORCH teratogens T: toxoplasmosis O: other (syphilis, aids, hep B) R: Rubella C: cytomegalovirus H: Herpesvirus

Ectoderm

The ectoderm will form the nervous system, the epithelial cells of mammary glands, the lens of the eyes, hair, pigment cells and the epidermis of the skin.

Mesoderm

The mesoderm will form skeletal muscle, smooth muscle, the heart, blood vessels, blood cells, kidney, spleen, fat cells, the skeleton, most connective tissues and most of the urogenital system.

22.4 Name the fetal and maternal parts of the placenta.

The placenta is composed of an outer layer maternal and an inner layer of fetal tissue.

22.25 Name the specific chromososmal defect in Down Syndrome.

Trisomy 21 (down syndrome) most common cytogenetic disorder in the united states and the single most common cause of mental retardation. A down syndrome fetus possesses the 3 copies of chromosome 21, rather than the normal 2. (page.727)

22.3 T / F ? Most major organs are formed by the end of the eight week of gestation.

True

22.6 T /F? Failure of the embryonic neural tube to close properly may result in failure of spinal and brain tissue to form.

True

22.37 T/F? Whooping Cough (WC) & diphtheria can be fatal

True (p. 736) WC is contagious disease that may occur in unvaccinated populations. It's caused by Bordetella pertusis. Severe cases can cause fatal asphyxia, especially in infants.

22.17 T / F? 2 copies of a gene are required for expression of an autosomal recessive trait.

True (p.720-1)

22.30 True or false? All infants develop physiologic jaundice.

True (p.732) All neonates develop high blood bilirubin (physiologic jaundice) for a few days as bilirubin metabolism shifts from mother to infant.

22.36 T/F? The natural history and behavior of HIV/AIDS in neonates & children is much the same as it is in adults.

True (p.736) but, the antiviral drug therapy differs.

12. T/F? All cells in the human body are made of up 23 pairs of chromosomes: 22 pairs of autosomes and 1 set of sex chromosomes.

True.

11. T/F? Teratogens can be physical, chemical, and microbial.

True. (p.712)Teratogen, the opposite of deficiency is an environmental forces that cause a congenital malformation. It can be physical(e.g., radiation), chemical (e.g., alchohol, therapeutic drugs), and microbial (e.g., viruses, bacteria).

(p. 733) Cerebral palsy is

a broad clinical term for a non progressive syndrome of motor impairment due to brain damage.

Somatic cells form

all other tissues and organs.

22.7 Define teratogen.

an environmental force that causes a congenital malformation. ( the opposite of deficiency)

Cytogenetic defects reflect large-scale abnormalities of chromosomes.

are caused by extra / absent whole chromosomes, or structural dislocations of chromosomes that translocate (switch) from one chromosome to another. These defects arise downstream as germ cells differentiate into ova or sperm (gametogenesis) & don't exist in the original germ cell. Therefore, this disorders aren't inheritable. Example: rare defects of chromosome 21 that are responsible for inheritable Down syndrome.

Monogenic (single-gene) defects.

are passed down by strict rules of inheritance from parent to child, example: sickle cell disease

congenital deformations

caused by maternal mechanical factors that distort the fetus

The fetal part arise from the wall of blastocyst and forms into

chorionic villi, finger-like projections containing fetal blood vessels that extend into lakes of maternal blood in decidua.

The maternal portion is

decidua, uterine endometrium that is thickened and modified by the effect of progesterone.

Polygenic (multi-gene) influence diseases.

develop under the polygenic influence of multiple genes as they interact with environmental factors, such as: facial features, physical features, and body shape.

22.22 Other than the influence of multiple genes, what factor is required to produce multifactorial disease?

environmental factors injury, such as: alchohol abuse, smoking, radiation, or overeating can cause type II diabetes & obesity.

22.18 Which type of protein is affected if a gene defect causes an excess / a deficit of a substance?

enzyme (is proteins that accelerate chemical reactions).

22.20 What type of body tissue is primarily affected by CF (Cystic Fibrosis) ?

exocrine gland (page: 724)

congenital malformations

fetal defects that owe to environmental or genetic factors that interfere with the intricate and delicate process that transforms a few cells into an embryo and then a fetus.

13.C. A highly contagious respiratory virus best known for the skin rash it produces that may cause fatal pneumonia in malnourished children.

i. Measles

13.G. Acute bacterial epiglottitis marked by hoarseness and painful swallowing.

ii. H. influenza

13. A. Severe coughing spasms with inspiratory barking sound (stridor, or whoop).

iii. Bordetella pertussis

Endoderm

innermost germ layer; develops into the linings of the digestive tract and much of the respiratory system. The endoderm will form the entire epithelial lining of the gastrointestinal tract, as well as the liver, pancreas, gall bladder, thyroid, the epithelial lining of the trachea and the respiratory surface of the lungs.

13.F. Mild syndrome of fever, sore throat, listlessness, lymphocytosis, and splenomegaly.

iv. Epstein Bar virus

22.24 What is the name for a structured photographic display of a person's chromosomes?

karyotype

Specialized germ cells in the ovary and testis produce

ova and sperm.

22.12 Define mutation.

permanent change in DNA

22.31 The lack of what substance in premature lungs is the cause of neonatal RDS (respiratory distress syndrome) ?

surfactant (p.733) RDS / hyaline membrane disease occurs almost solely in premature infants. It stems from a lack of surfactant in immature infant lungs.

22.21 The function of which organs is most affected by CF

the lungs and gastrointestinal / GI tract (p.724)

expressivity

the manner of manifestation of the disease; qualitative characteristic. For example: cystic fibrosis

Penetrance

the percentage of individuals with the disease allele that actually have the disease; quantitative characteristic; the degree to which the trait is expressed.

1) A gene on an autosomal dominant if

the trait / disease is expressed phenotypically (physically), even if the matching allele is normal. For example: Marfan syndrome.

13. B. Sore throat, skin rash, and enlarged lymph nodes.

v. Rubella.

13. D. Parotitis, orchitis, pancreatitis, encephalitis.

vi. Mumps

13. E. Pharyngitis and laryngitis associated with a thick, obstructive gray-colored inflammatory membrane that can cause death by suffocation.

vii. Diphtheria