Pathology-Childhood and Infancy Quick Poppers

Question 1

Causes of asymmetric fetal growth restriction

Answer 1

Maternal or placental

Question 2

Cause of symmetric fetal growth restriction

Answer 2

Fetal problems (chromosomal abnormalities, infection, erythroblastosis)

Question 3

SIDS risks

Answer 3

1 month to 1 year, 90% of deaths within 1st 6 months, male, African-American, low parental SES.

Question 4

Why intrauterine infection results in preterm premature rupture of membranes

Answer 4

Releases of collagenases, elastases that promote membrane rupture and release of prostaglandins that promote smooth muscle contraction

Question 5

When can a primigravada mother have Rh incompatability

Answer 5

Prior history of incompatible transfusion

Question 6

Enzyme deficiency that gives rise to galactosemia

Answer 6

Galactose-1-phosphate uridyltransferase deficiency (GALT)

Question 7

Presentation of galactosemia

Answer 7

Liver damage (fatty change and portal fibrosis), cataracts, diarrhea, E. coli septicemia w/o pancreatic abnormalities

Question 8

Familial hypercholesterolemia presentation

Answer 8

Accelerated atherogenesis

Question 9

Genetic factors that indicate good prognosis for retinoblastoma

Answer 9

Absence of N-myc or 1p deletion. Presence of hyperdiploidy and high levels of Trk A (nerve growth factor receptor that allows for differentiation).

Question 10

Most common location of teratoma presentation in a fetus

Answer 10

Midline at the sacrococcygeal area

Question 11

Irregular, red-blue skin lesions that are flat and spreading

Answer 11

Hemangiomas

Question 12

Diagnostic tests for fetal lung development

Answer 12

Amniotic L:S ratio and lamellar bodies (in differentiated pneumocytes)

Question 13

1st trimester infection that causes heart defects

Answer 13

Rubella

Question 14

Teratogen that causes limb defects

Answer 14

Thalidomide

Question 15

Condition that leads to fetal anemia with congestive heart failure and hydrops

Answer 15

Erythroblastosis fetalis. Maternal antibody coats fetal RBCs that causes hemolysis and anemia which leads to heart failure.

Question 16

Recurrence rate in multifactorial inheritance patterns

Answer 16

2-7%

Question 17

When can phenylalanine restriction be lifted in a person with PKU?

Answer 17

Adulthood, once neural development is complete. PKU only affects CNS tissue.

Question 18

Condition not associated with diabetic embryopathy

Answer 18

Gestational diabetes

Question 19

Condition characterized by multiple recurrent severe infections from birth

Answer 19

Adenosine deaminase deficiency

Question 20

Condition characterized by cholestasis in children that progresses to chronic liver disease

Answer 20

alpha1-antitrypsin deficiency

Question 21

Glucocerebrosidase deficiency

Answer 21

Gaucher disease

Question 22

Fetal effects of CMV

Answer 22

Severe anemia, myocardial injury, hydrops, retardation and renal tubular epithelial damage.

Question 23

Pathology associated with high dose oxygen

Answer 23

Brochopulmonary dysplasia

Question 24

Less serious consequences than Rh incompatibility

Answer 24

ABO incompatibility

Question 25

Most common tumor of infancy

Answer 25

Hemangioma

Question 26

Most common cystic fibrosis mutation

Answer 26

3-base pair deletion F-508

Question 27

Genetic causes of WAGR syndrome

Answer 27

11p deletion, WT1 deletion and PAX6 deletions can lead to Wilms, Aniridia, GU defects and mental Retardation.

Question 28

Trisomy associated with horseshoe kidney

Answer 28

18 (Edwards syndrome)

Question 29

Myophosphorylase deficiency that causes muscle cramping

Answer 29

McArdle syndrome

Question 30

Trisomy associated with polydactyly, cleft lip, cyclopia and holoprosencephaly.

Answer 30

13 (Patau syndrome)

Question 31

Syndrome associated with cystic hygroma, aortic coarctation and renal anomalies

Answer 31

45X (Turner syndrome)

Question 32

Significant hemorrhage at time of delivery or uteroplacental insufficiency with growth retardation

Answer 32

Placenta previa

Question 33

Fetal infections that develop slowly? Quickly? At birth?

Answer 33

Slowly: CMV, syphilis and toxoplasmosis. Quickly: GBS. At birth: HSV.

Question 34

Decreased skin pigmentation and a mousy odor

Answer 34

PKU

Question 35

Glucose-6-phosphatase deficiency

Answer 35

von Gierke disease (liver failure)

Question 36

Lysosomal acid maltase deficiency

Answer 36

Pompe disease (cardiomegaly + heart failure)

Question 37

Sphingomyelinase deficiency

Answer 37

Niemann-Pick disease (hepatosplenomegaly and mental retardation)

Question 38

Listeria effect on neonate

Answer 38

Meningitis

Question 39

CMV and todo effect on neonate

Answer 39

Severe CNS damage

Question 40

Large, pink, intranuclear inclusions in RBCs w/fetal anemia, cardiac failure and hydrops

Answer 40

Parvovirus B19

Question 41

Embryonic disruption

Answer 41

Fibrous bands that mess up normal limb development

Question 42

Fetal deformation

Answer 42

Oligohydramnios

Question 43

Child presents with abnormal limb, vertebrae and craniofacial development

Answer 43

Retinoic acid embryopathy due to down-regulation of the TGF-beta signaling pathway and decreased expression of HOX genes.

Question 44

Saber shin periosteitis

Answer 44

Congenitial syphilis

Question 45

Can be used to link haplotypes with disease

Answer 45

Single-nucleotide polymorphisms

Question 46

Translocation that produces gametes capable of producing trisomies of monosomies

Answer 46

Robertsonian

Question 47

VATER association

Answer 47

Vertebral defects, imperforate ANus, TEF, and Renal dysplasia

Question 48

Cytogenic abnormality occurs in just the trophoblast

Answer 48

Only placenta is affected

Question 49

Causes of necrotizing enterocolitis

Answer 49

Intestinal ischemia, PAF induced apoptosis, bacterial overgrowth and formula feeding

Question 50

Infant does not pass stool and has cystic fibrosis

Answer 50

Meconium ileus

Question 51

70% of retinoblastoma mutations are what type

Answer 51

Germline

Question 52

Mutation associated with severe CF phenotypes

Answer 52

TGFbeta1 gene

Question 53

Why CF patients get pancreatitis

Answer 53

CFTR also controls pancreatic bicarbonate transport

Question 54

Neurotransmitter defect that may cause SIDS

Answer 54

Abnormalities in medullary centers that regulate response to hypoxia, hypercarbia and thermal stress may involve decreased levels of serotonin and cause cardiorespiratory failure.