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3 Patho > Infancy and Childhood disease > Flashcards

Infancy and Childhood disease Flashcards

1
Q

Denotes rupture of amnion

A

amniotic bands

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2
Q

Intrinsic abnormality

A

malformation

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3
Q

Extrinsic disturbance

A

deformation

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4
Q

Cascade of anomalies triggered by one initiating event

A

Sequence

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5
Q

Constellation of congential anomalies

A

syndrome

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6
Q

Classic syndrome of viral etiology.

Triad of cardiac abnormalities (PDA), deafness, eye abnormalities.

A

congenital rubella syndrome

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7
Q

TORCH

A 
Toxoplasma gondii
Other - HIV, Coxsackie, Parvo B19
Rubella
CMV
HSV
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8
Q

Causes downregulation of the developmentally important wingless signaling pathway

A

Thalidomide

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9
Q

Growth retardation, microcephaly, ASD, short palpebral fissures, maxillary hypoplasia

A

Fetal alcohol syndrome

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10
Q

Time period of gestation most susceptible to teratogenesis

A

3rd to 9th week peaking 4-5th

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11
Q

Teratogen that causes craniofacial abnormalities including holoprosencephaly and cyclopia

A

cyclopamine

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12
Q

Excessive exposure causes CNS, cardiac, and craniofacial defects (cleft palate)

A

retinoic acid (vit A metabolite)

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13
Q

2nd most common cause of neonatal mortality

A

prematurity - less than 37 weeks

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14
Q

ROM after 37 weeks

A

PROM (premature)

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15
Q

ROM before 37 weeks

A

PPROM (preterm premature)

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16
Q

Common risk factors of PPROM

A 
maternal smoking
prior history
vaginal bleeding
low socioeconomic status
poor maternal nutrition
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17
Q

Inflammation of placental membranes seen in premature labor

A

chorioamnionitis

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18
Q

Cause of SGA resulting in asymmetrical growth retardation with relative sparing of the brain

A

placental causes

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19
Q

Causes of SGA that result in symmetric growth restriction

A

fetal causes (chromosomal, congenital, infections)

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20
Q

Risk of HMD/RDS at 32-36 weeks

A

20%

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21
Q

Risk of HMD/RDS after 36 weeks

A

5%

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22
Q

Risk of HMD/RDS less than 28 weeks

A

> 50%

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23
Q

Type II pneumocytes become maximally active after

A

35 WOG

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24
Q

Other factors contributing to HMD/RDS

A

maternal diabetes, cesarean delivery, neonatal asphyxia, twins

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25
Q

Components of surfactant

A

dipalmytoyl phosphatidylcholine, proteins

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26
Q

CXR shows uniform minute reticulocgranular densities (ground glass picture)

A

HMD

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27
Q

Disease of prematurity resulting from ischemia, bacterial colonization, or excess protein in lumen.of terminal ileum

A

necrotizing enterocolitis

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28
Q

1 minute APGAR indicates

A

how well the baby tolerated birthing process

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29
Q

5 minute APGAR indicates

A

how well the baby is doing outside the womb

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30
Q

APGAR test is based on these 5 categories:

A 
Skin color (Appearance)
Heart rate (Pulse)
Reflex irritability (Grimace)
Muscle tone (Activity)
Breathing (Respiration)
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31
Q

Norml APGAR score

A

7-9

10 unusual

32
Q

Ascending perinatal infections are acquired

A

transcervically

33
Q

Hematologic perinatal infections are acquired

A

transplacentally

34
Q

Causes erythema infectiosum or fifth disease transplacentally

A

Parvovirus B19

35
Q

Early onset sepsis after birth usually caused by

A

Group B strep

36
Q

Late onset sepsis caused by

A

Listeria and Candida

37
Q

Generalized edema of fetus due to fluid collection in soft tissues

A

hydrops fetalis

38
Q

Newborn with abdominal distension, ileus, bloody stool. Radiographs reveal gas within intestinal wall.

A

necrotizing enterocolitis

39
Q

Non-immune hydrops caused by

A

CVS defects
chromosomal anomalies
fetal anemia

40
Q

Immune hydrops is caused by

A

Usually Rh disease

Anemia (destruction of RBC) causes cardiac decompensation resulting in hydrops

41
Q

Consequences of immune hydrops:

A

anemia

jaundice - kernicterus

42
Q

Pale and yellow newborn with hepato- and splenomegaly with generalized edema:

A

immune hydrops secondary to Rh disease

43
Q

Inborn metabolic error with deficiency of phenylalanie hydroxylase

A

PKU phenylketonuria

44
Q

SIDS parental risk factors:

A

Young maternal age
Maternal smoking
Drug abuse in mother/father

45
Q

In classic galactosemia what enzyme is deficient?

A

GALT

galatose-1-phosphate uridyltransferase

46
Q

In variant galactosemia what enzyme?

A

galctokinase

47
Q

SIDS infant risk factors:

A

Male
Prematurity
Antecedent respi infections

48
Q

CFTR gene located where?

A

Chromosome 7q31.2

49
Q

Musty odor of infant - suspect what?

A

PKU

50
Q

Mother has chief complaint of vomiting and diarrhea in newborn. On PE –> Jaundice, hepatomegaly, infantile cataracts, mental retardation. Suspected disease:

A

galactosemia

hepatomegaly due to fatty change, jaundice follows with scarring
galactitol accumulates in eye

51
Q

Diagnostic test of CF

A

Increased Cl ions in sweat (ENaC defect)

Chloride channel defect in sweat duct increase Cl ion concentration (ENaC is Na and Cl in same direction)

Na and Cl no absorpbed –> SALTY sweat

52
Q

Hemangiomas are derived from where

A

mesenchyme

53
Q

Teratoma admixed with another germ cell tumor component such as endodermal sinus fluid

A

unequivocal malignant teratoma

54
Q

Treatment for PKU

A

decrease phenylalanine

increase tyrosine

55
Q

On physical exam: 4 year old boy with large cystic mass on head and neck

A

lymphangioma, cystic hygroma

56
Q

What accumulates in the eyes of infants with galactosemia?

A

galctitol

57
Q

Most common leukemia in children

A

ALL

58
Q

CF pathogenesis in lungs?

Pancreas?

A

Defective Cl channel –>
Cl ion unable to enter lumen–>
Na reabsorption increased, water follows –>
Dry, thick mucus plugging lungs, pancreas, liver –>
Chronic infection

Pancreatic glands atrophy –> ADEK malabsorption

59
Q

Environmental SIDS risk factors

A

prone sleeping position
soft sleeping surface
hyperthermia

60
Q

Lymphatic dilation resulting in diffuse swelling is referred to as

A

lymphangiectasis

61
Q

t(12;15)(p13q25) is characteristic of

A

congenital-infantile fibrosarcoma

62
Q

Presence of nephrogenic crest indicates risk of:

A

Wilm’s tumor on CONTRALATERAL kidney

63
Q

18 month old baby (+) rosettes

A

neuroblastoma

Homer-Wright pseudorosettes

64
Q

Aniridia, genital anomalies, mental retardation, prone to Wilm’s:

A

WAGR syndrome

65
Q

On autopsy, baby showed multiple petechiae, congested lungs, and astrogliosis.

A

SIDS

66
Q

Genetic mutation associated in Wilm’s tumor?

A

11p13 deletion (WT1 gene)

67
Q

Presence of these cells indicate better prognosis in neuroblastoma

A

Schwann cells

68
Q

Organomegally, genomic imprinting pattern;

prone to Wilm’s tumor:

A

Beckwith-Wiedemann Syndrome

69
Q

Tumor of sympathetic ganglia (most commonly adrenal medulla) of chidlren

A

neuroblastoma

70
Q

Gonadal dysgenesis, nephropathi, diffuse mesangial sclerosis, prone to Wilm’s tumor

A

Denys-Drash syndrome

71
Q

15% association to this neoplasm with beta-catenin mutations

A

Wilm’s tumor

72
Q

Phenomenon where certain genes are expressed in a parent-of-origin-specific manner

A

genomic imprinting

73
Q

Mutation in anaplastic lymphoma kinase (ALK) gene results in what neoplasm?

A

neuroblastoma

74
Q

Posterior fossa neoplasms in children include

A

Juvenile astrocytoma
medulloblastoma
ependymoma

75
Q

11p15 mutation

A

Beckwith-Widmann syndrome

3 Patho (8 decks)

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