Diseases Of Infancy And Childhood

Front 1

Are karyotypic/chromosomal aberrations mostly familial?

Back 1

No!...defect in gametogenesis

Front 2

The presence and nature of congenital anomalies due to environmental factors relates to what 2 factors?

Back 2

1) The timing of the intruterine exposure

2) The differential susceptibility of individual systems

Front 3

When does organogenesis occur?

What is the peak susceptibility during this time?

Back 3

Embryonic Period (0-9wks)

4-5 weeks = peak susceptibility


After Embryonic period is the fetal period (10wks to birth) where the organs mature -> less susceptible

Front 4

Name 2 morphogenesis genes.

What is unique about them?

Back 4

HOX & PAX

They have proximal regulatory influences and distal target genes.

Front 5

What problem commonly underlies children who are Small for Gestation Age (SGA)?

Back 5

Fetal Growth Restriction

could be fetal, placental or maternal factor

Front 6

Do Fetal factors cause symmetric or asymmetric growth restriction?

Back 6

Symmetric

Front 7

Do Placental factors cause symmetric or asymmetric growth restriction?

Back 7

Asymmetric

Front 8

What else is unique about Placental factors (relative to Fetal and Maternal factors)?

Back 8

Placental factors are BRAIN SPARING

Front 9

What is the weight for an infant to be considered premature?

Back 9

<2500g (2.5 kg)

to go along with gestational age < 37 weeks

Front 10

What does APGAR stand for?

Back 10

APPEARANCE: skin color (blue = 0; mix = 1; pink =2)

PULSE: heart rate (<100 = 1; >100 = 2)

GRIMACE: reflex irritability (catheter in nostril: grimace = 1, cough/sneeze = 2)

ACTIVITY: muscle tone(active motion = 2)

RESPIRATION: effort (crying = 2)

Front 11

Regarding Perinatal Infections,

Bacterial Infections mostly by?

Parasite infections mostly by?

Viral infections mostly by?

Back 11

Bacterial = TRANSCENDING (ASCENDING)

Parasite/Viral = TRANSPLACENTAL (HEMATOLOGIC via CHORIONIC VILLI)

Front 12

What lines the respiratory bronchiolesm, alveolar duct & alveoli in Respiratory Distress Syndrome (RDS)?

Back 12

FIBRIN (protinaceous material)

Front 13

What can be monitored in amniotic fluid to assess the level of surfactant production in a baby?

Ratio of what?

Back 13

Amniotic Fluid PHOSPHOLIPIDS

LECITHIN/SPHINGOMYELINE RATIO

Front 14

Immune Hydrops:

First exposure induces? Significance?

Second exposure induces? Significance?

Result of 2nd exposure

Back 14

IgM Ab: CANNOT cross placenta

IgG Ab: CAN cross placenta

IgG Abs bind to fetal RBC, resulting in ERYTHROCYTIC LYSIS --> ANEMIA & HEMOGLOBIN DEGRADATION

ANEMIA --> HYPROPS,
HEMOGLOBIN DEGRADATION --> JAUNDICE & KERNICTERUS

Front 15

Transplacental exposure of what is a radiply emerging cause of (non-immune) hydrops?

What is its mechanism and result?

Back 15

PARVOVIRUS B19

Virus enters and replicates within erythroid precursors (normoblasts)

Results in erythrocyte maturation arrest and aplastic anemia

Front 16

Who is not affected by Immune Hydrops from Rh incompatibility?

Back 16

FIRST-BORN child

Front 17

Kernicterus

Back 17

CNS Damage stemming froim unconjugated bilirubin crossing the BBB, found often in Immune & Nonimmune Hydrops

Front 18

Immune & Nonimmune Hydrops affects which 2 organ systems?

Back 18

HEART - Myocardial dysfunction & circulatory failure

LIVER - Jaundice

Front 19

If not dianosed, most Phenylkeonuria (PKU) patients develope what symptoms?

Back 19

Microcephaly & Mental Retardation

Front 20

What 3 AA should you avoid is you have PKU?

Back 20

1) Phenylalanine

2) Tyrosine

3) Tryptophan

Front 21

What is the most common enzyme defect of Galactosemia?

Results in?

Back 21

GALT

accumulation of galactose-1-phosphate

Front 22

Cl secretion/resorption in:

1)Exocrine gland

2)Exocrine gland (w/CF)

3)Respiratory & GI Tract

4)Respiratory & GI Tract (w/CF)

Back 22

1)resorption

2)secretion - sweat chloride test

3)secretion

4)resorption - defective mucociliary action, mucoviscidosis and prevention of antibacterial defensin activation

Front 23

CF morphological changes in pancreas?

Back 23

Total atrophy of the exocrine pancrease - impairs fat absorption & squamous metaplasia - STEATORREA

Front 24

CF morphological changes in intestines?

Back 24

Thick viscous plugs of mucus (MECONIUM ILEUS) = small intestinal obstruction

Front 25

CF morphological changes in Male genital tract?

Back 25

Azoospermia & infertiltiy, frequently with congenital bilater absence of the vas deferens

Front 26

Most common causes of death in CF are?

Back 26

1) Cor pulmonale - R ventricular failure from pulmonary hypertension

2)Obstructive pulmonary obstruction

3)Persistent lung infection

Front 27

Most common finding of SIDS?

Back 27

PETECHIAE on THYMUS, PLEURA, & EPICARDIUM

Front 28

Leading cause of death from disease in US children ages 4-14 years?

Back 28

Cancer

Front 29

Genetic Markers for having Neuroblastoma

Back 29

1)17q GAIN

2) 1p DELETION

3) N-myc amplification

4) DNA hyperdiploidy (near triploidy)

Front 30

Wilms tumors are characterizedd by what thiphasic histological features?

Back 30

1)Blastema

2) Immature Stroma

3) Tubules - an attempt to recapitulate nephrogenesis

Front 31

High-dose oxygen with positive pressure ventilation can cause?

Back 31

Bronchopulmonary Displasia

Front 32

Adenosine deaminase deficiency causes?

Back 32

Severe combined Immunodeficiency (SCID) - multiple recurrent severe infections from birth

Front 33

Galactosemia marked by? causes?

Back 33

fatty change and fibrosis in liver (unlike CF, no change to pancreas)

Diarrhea

Cataracts

Very Suscptible to E Coli septicemai

Front 34

Alpha-1-Antitrypsin causes?

Back 34

Cholestasis in children

Chronic livver disease develops later

Front 35

Abnormality of globin chains?

Back 35

Thalassemias - ANEMIA

Front 36

Deficiency in Glucocerebrosidase

Does it cause hepatic failure?

Back 36

Gaucher's Dz

Nope

Front 37

Deficiency in Hexosaminidase A?

Back 37

Tay-Sachs Dz

Front 38

Hyperinsulinism in the fetus of a diabetic mother suppresses what?

Back 38

Pulmonary SURFACTANT production

Front 39

Oligohydramnios causes?

Back 39

Pulmonary hypoplasia (NOT v surfactanat)

Front 40

PKU affects tissues of?

Back 40

CNS - can cause mental retardation

Front 41

What is the recurrence rate of malformations?

Back 41

2% - 7% for al first-degree relatives, regardless of sex and relationship to the index case

Front 42

Surfactant synthesis increases greatly after ? weeks gestation?

Back 42

35

Front 43

Amplification of N-Myc oncogene indicates

Back 43

Neuroblastomas (25% of the time)

Front 44

SIDS occurs b/w what time frames?

what % in the 1st 6 months?

Back 44

1 month - 1 year postpartum

90%

Front 45

In CF, what does failure to secrete bicarb in the pancrease cause?

Back 45

v pH -> ^ mucus preciptiation and ductal plugging -> exocrine pancreatic atrophy -> steatorrhea adn poor fat soluble vitamin absorption

Front 46

In CF, what does vit A deficiency cause?

Back 46

ductal squamous meatplasia

Front 47

Rb is what kind of defect?

Back 47

Germ-line mutation

Front 48

Duodenal atresia defect of?

Back 48

Trisomy 21

Front 49

GI complication of prematurity?

Back 49

Necrotizing enterocolitis

Front 50

Does Hirschsprung disease cause bloody diarrhea?

Back 50

No..just obstruction with distention

Front 51

Projectile vomiting caused by?

Back 51

Pyloric stenosis

Front 52

Meconium ileus defect of?

Back 52

CF

Front 53

Renal agenesis will cause

Back 53

Oligohydrmnios - flatted face & deformed feet

Front 54

Fetal lung maturity is usually reached by when?

Back 54

34-35 weeks

Front 55

^ urine homovanillic acid level is a feature of?

Back 55

Neruoblastoma

Front 56

Placental mosaicism results from genetic mutations pre or post zygote formation?

Back 56

post-zygote formation

placental defects cause ASYMMETRIC intrauterine growth retardation

nondisjuction of chromosomes pre-zygote formation results in SYMETTRIC deformaties

Front 57

REtinoic acid embryopathy, characterized by cardiac, neural, carniofacial defects, results in?

Back 57

error in expression of homeobox (HOX) genes important in embryonal patterning of limbs, vertebrae and craniofacial structures

Front 58

Easrly amnion disruption will cause

Back 58

Disruption

Front 59

Embryonic amputation of digits, arms and legs

Back 59

Amniotic Band Syndrome (caused by Disruption)

Front 60

Multiple fetal losses EARLYin gestion suggest likelihood of?

Back 60

Chromosomal abnormality

Front 61

Maternal serum level of alpha-fetoprotein can identify?

Back 61

Fetal NEURAL TUBE defects

Front 62

Infection of ____ will lead to profound fetal ANEMIA with CARDIAC failure (ie cardiomegaly) and HYDROPS fetalis

Back 62

Parvovirus B19

also cause of RASH (from FIFTH DISEASE)

Front 63

When does Group B strep normally infect the fetus?

Back 63

Near term/Peripartum

Front 64

"mousy" urine odor associated with?

Stems from absense of?

Also what other unique association with this disease?

Back 64

PKU -> Mental retardation & Seizures

Penylalanin Hydroxylase

v pigmentation of skin and hair

Front 65

alpha-antitrypsin deficiency may cause?

Back 65

Cholestasis as children leading to Chronic liver disease as adults

Front 66

Galactosemia caused by?

Defect is?

Back 66

Galactose-1-phosphate uridyltransferase deficiency

Severe liver disease

Front 67

Deficiency in glucose-6-phosphatasea causes?

Back 67

Von Gierke disease -> Liver failure

Front 68

Lysosomal acid maltase deficiency causes? Disease called?

Back 68

Cardiomegaly and Heart failure

Pompe disease

Front 69

What test may help determine the presence of erythroblastosis fetalis?

Back 69

Coombs test

Front 70

Acute inflammation near term suggest?

Back 70

Bacterial infection, of which Group B Strep is a common cause

Front 71

What group causes stillbirths?

Back 71

TORCH

Toxoplasm
Others - syphilis, HepB, EBV, parvo, VZV, coxackie
Rubella
CMV
HSV

NOT gohorreha!

Front 72

The most common infantile tumor is?

A proliferation of?

Back 72

Hemangioma

Capillaries