Pathology-Childhood and Infancy Quick Poppers Flashcards Preview

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Flashcards in Pathology-Childhood and Infancy Quick Poppers Deck (54):
1

Causes of asymmetric fetal growth restriction

Maternal or placental

2

Cause of symmetric fetal growth restriction

Fetal problems (chromosomal abnormalities, infection, erythroblastosis)

3

SIDS risks

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

4

Why intrauterine infection results in preterm premature rupture of membranes

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

5

When can a primigravada mother have Rh incompatability

Prior history of incompatible transfusion

6

Enzyme deficiency that gives rise to galactosemia

Galactose-1-phosphate uridyltransferase deficiency (GALT)

7

Presentation of galactosemia

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

8

Familial hypercholesterolemia presentation

Accelerated atherogenesis

9

Genetic factors that indicate good prognosis for retinoblastoma

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

10

Most common location of teratoma presentation in a fetus

Midline at the sacrococcygeal area

11

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

Hemangiomas

12

Diagnostic tests for fetal lung development

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

13

1st trimester infection that causes heart defects

Rubella

14

Teratogen that causes limb defects

Thalidomide

15

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

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

16

Recurrence rate in multifactorial inheritance patterns

2-7%

17

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

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

18

Condition not associated with diabetic embryopathy

Gestational diabetes

19

Condition characterized by multiple recurrent severe infections from birth

Adenosine deaminase deficiency

20

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

alpha1-antitrypsin deficiency

21

Glucocerebrosidase deficiency

Gaucher disease

22

Fetal effects of CMV

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

23

Pathology associated with high dose oxygen

Brochopulmonary dysplasia

24

Less serious consequences than Rh incompatibility

ABO incompatibility

25

Most common tumor of infancy

Hemangioma

26

Most common cystic fibrosis mutation

3-base pair deletion F-508

27

Genetic causes of WAGR syndrome

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

28

Trisomy associated with horseshoe kidney

18 (Edwards syndrome)

29

Myophosphorylase deficiency that causes muscle cramping

McArdle syndrome

30

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

13 (Patau syndrome)

31

Syndrome associated with cystic hygroma, aortic coarctation and renal anomalies

45X (Turner syndrome)

32

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

Placenta previa

33

Fetal infections that develop slowly? Quickly? At birth?

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

34

Decreased skin pigmentation and a mousy odor

PKU

35

Glucose-6-phosphatase deficiency

von Gierke disease (liver failure)

36

Lysosomal acid maltase deficiency

Pompe disease (cardiomegaly + heart failure)

37

Sphingomyelinase deficiency

Niemann-Pick disease (hepatosplenomegaly and mental retardation)

38

Listeria effect on neonate

Meningitis

39

CMV and todo effect on neonate

Severe CNS damage

40

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

Parvovirus B19

41

Embryonic disruption

Fibrous bands that mess up normal limb development

42

Fetal deformation

Oligohydramnios

43

Child presents with abnormal limb, vertebrae and craniofacial development

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

44

Saber shin periosteitis 

Congenitial syphilis

45

Can be used to link haplotypes with disease

Single-nucleotide polymorphisms

46

Translocation that produces gametes capable of producing trisomies of monosomies

Robertsonian

47

VATER association

Vertebral defects, imperforate ANus, TEF, and Renal dysplasia

48

Cytogenic abnormality occurs in just the trophoblast

Only placenta is affected

49

Causes of necrotizing enterocolitis

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

50

Infant does not pass stool and has cystic fibrosis

Meconium ileus

51

70% of retinoblastoma mutations are what type

Germline

52

Mutation associated with severe CF phenotypes

TGFbeta1 gene

53

Why CF patients get pancreatitis

CFTR also controls pancreatic bicarbonate transport

54

Neurotransmitter defect that may cause SIDS

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