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Female Repro > Pathology-Childhood and Infancy Quick Poppers > Flashcards

Pathology-Childhood and Infancy Quick Poppers Flashcards

1
Q

Causes of asymmetric fetal growth restriction

A

Maternal or placental

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2
Q

Cause of symmetric fetal growth restriction

A

Fetal problems (chromosomal abnormalities, infection, erythroblastosis)

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3
Q

SIDS risks

A

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

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4
Q

Why intrauterine infection results in preterm premature rupture of membranes

A

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

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5
Q

When can a primigravada mother have Rh incompatability

A

Prior history of incompatible transfusion

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6
Q

Enzyme deficiency that gives rise to galactosemia

A

Galactose-1-phosphate uridyltransferase deficiency (GALT)

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7
Q

Presentation of galactosemia

A

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

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8
Q

Familial hypercholesterolemia presentation

A

Accelerated atherogenesis

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9
Q

Genetic factors that indicate good prognosis for retinoblastoma

A

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

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10
Q

Most common location of teratoma presentation in a fetus

A

Midline at the sacrococcygeal area

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11
Q

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

A

Hemangiomas

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12
Q

Diagnostic tests for fetal lung development

A

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

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13
Q

1st trimester infection that causes heart defects

A

Rubella

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14
Q

Teratogen that causes limb defects

A

Thalidomide

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15
Q

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

A

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

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16
Q

Recurrence rate in multifactorial inheritance patterns

A

2-7%

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17
Q

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

A

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

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18
Q

Condition not associated with diabetic embryopathy

A

Gestational diabetes

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19
Q

Condition characterized by multiple recurrent severe infections from birth

A

Adenosine deaminase deficiency

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20
Q

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

A

alpha1-antitrypsin deficiency

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21
Q

Glucocerebrosidase deficiency

A

Gaucher disease

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22
Q

Fetal effects of CMV

A

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

23
Q

Pathology associated with high dose oxygen

A

Brochopulmonary dysplasia

24
Q

Less serious consequences than Rh incompatibility

A

ABO incompatibility

25
Q

Most common tumor of infancy

A

Hemangioma

26
Q

Most common cystic fibrosis mutation

A

3-base pair deletion F-508

27
Q

Genetic causes of WAGR syndrome

A

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

28
Q

Trisomy associated with horseshoe kidney

A

18 (Edwards syndrome)

29
Q

Myophosphorylase deficiency that causes muscle cramping

A

McArdle syndrome

30
Q

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

A

13 (Patau syndrome)

31
Q

Syndrome associated with cystic hygroma, aortic coarctation and renal anomalies

A

45X (Turner syndrome)

32
Q

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

A

Placenta previa

33
Q

Fetal infections that develop slowly? Quickly? At birth?

A

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

34
Q

Decreased skin pigmentation and a mousy odor

A

PKU

35
Q

Glucose-6-phosphatase deficiency

A

von Gierke disease (liver failure)

36
Q

Lysosomal acid maltase deficiency

A

Pompe disease (cardiomegaly + heart failure)

37
Q

Sphingomyelinase deficiency

A

Niemann-Pick disease (hepatosplenomegaly and mental retardation)

38
Q

Listeria effect on neonate

A

Meningitis

39
Q

CMV and todo effect on neonate

A

Severe CNS damage

40
Q

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

A

Parvovirus B19

41
Q

Embryonic disruption

A

Fibrous bands that mess up normal limb development

42
Q

Fetal deformation

A

Oligohydramnios

43
Q

Child presents with abnormal limb, vertebrae and craniofacial development

A

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

44
Q

Saber shin periosteitis

A

Congenitial syphilis

45
Q

Can be used to link haplotypes with disease

A

Single-nucleotide polymorphisms

46
Q

Translocation that produces gametes capable of producing trisomies of monosomies

A

Robertsonian

47
Q

VATER association

A

Vertebral defects, imperforate ANus, TEF, and Renal dysplasia

48
Q

Cytogenic abnormality occurs in just the trophoblast

A

Only placenta is affected

49
Q

Causes of necrotizing enterocolitis

A

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

50
Q

Infant does not pass stool and has cystic fibrosis

A

Meconium ileus

51
Q

70% of retinoblastoma mutations are what type

A

Germline

52
Q

Mutation associated with severe CF phenotypes

A

TGFbeta1 gene

53
Q

Why CF patients get pancreatitis

A

CFTR also controls pancreatic bicarbonate transport

54
Q

Neurotransmitter defect that may cause SIDS

A

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

Female Repro (42 decks)

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