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72 Cards in this Set

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Are karyotypic/chromosomal aberrations mostly familial?
No!...defect in gametogenesis
The presence and nature of congenital anomalies due to environmental factors relates to what 2 factors?
1) The timing of the intruterine exposure

2) The differential susceptibility of individual systems
When does organogenesis occur?

What is the peak susceptibility during this time?
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
Name 2 morphogenesis genes.

What is unique about them?
HOX & PAX

They have proximal regulatory influences and distal target genes.
What problem commonly underlies children who are Small for Gestation Age (SGA)?
Fetal Growth Restriction

could be fetal, placental or maternal factor
Do Fetal factors cause symmetric or asymmetric growth restriction?
Symmetric
Do Placental factors cause symmetric or asymmetric growth restriction?
Asymmetric
What else is unique about Placental factors (relative to Fetal and Maternal factors)?
Placental factors are BRAIN SPARING
What is the weight for an infant to be considered premature?
<2500g (2.5 kg)

to go along with gestational age < 37 weeks
What does APGAR stand for?
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)
Regarding Perinatal Infections,

Bacterial Infections mostly by?

Parasite infections mostly by?

Viral infections mostly by?
Bacterial = TRANSCENDING (ASCENDING)

Parasite/Viral = TRANSPLACENTAL (HEMATOLOGIC via CHORIONIC VILLI)
What lines the respiratory bronchiolesm, alveolar duct & alveoli in Respiratory Distress Syndrome (RDS)?
FIBRIN (protinaceous material)
What can be monitored in amniotic fluid to assess the level of surfactant production in a baby?

Ratio of what?
Amniotic Fluid PHOSPHOLIPIDS

LECITHIN/SPHINGOMYELINE RATIO
Immune Hydrops:

First exposure induces? Significance?

Second exposure induces? Significance?

Result of 2nd exposure
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
Transplacental exposure of what is a radiply emerging cause of (non-immune) hydrops?

What is its mechanism and result?
PARVOVIRUS B19

Virus enters and replicates within erythroid precursors (normoblasts)

Results in erythrocyte maturation arrest and aplastic anemia
Who is not affected by Immune Hydrops from Rh incompatibility?
FIRST-BORN child
Kernicterus
CNS Damage stemming froim unconjugated bilirubin crossing the BBB, found often in Immune & Nonimmune Hydrops
Immune & Nonimmune Hydrops affects which 2 organ systems?
HEART - Myocardial dysfunction & circulatory failure

LIVER - Jaundice
If not dianosed, most Phenylkeonuria (PKU) patients develope what symptoms?
Microcephaly & Mental Retardation
What 3 AA should you avoid is you have PKU?
1) Phenylalanine

2) Tyrosine

3) Tryptophan
What is the most common enzyme defect of Galactosemia?

Results in?
GALT

accumulation of galactose-1-phosphate
Cl secretion/resorption in:

1)Exocrine gland

2)Exocrine gland (w/CF)

3)Respiratory & GI Tract

4)Respiratory & GI Tract (w/CF)
1)resorption

2)secretion - sweat chloride test

3)secretion

4)resorption - defective mucociliary action, mucoviscidosis and prevention of antibacterial defensin activation
CF morphological changes in pancreas?
Total atrophy of the exocrine pancrease - impairs fat absorption & squamous metaplasia - STEATORREA
CF morphological changes in intestines?
Thick viscous plugs of mucus (MECONIUM ILEUS) = small intestinal obstruction
CF morphological changes in Male genital tract?
Azoospermia & infertiltiy, frequently with congenital bilater absence of the vas deferens
Most common causes of death in CF are?
1) Cor pulmonale - R ventricular failure from pulmonary hypertension

2)Obstructive pulmonary obstruction

3)Persistent lung infection
Most common finding of SIDS?
PETECHIAE on THYMUS, PLEURA, & EPICARDIUM
Leading cause of death from disease in US children ages 4-14 years?
Cancer
Genetic Markers for having Neuroblastoma
1)17q GAIN

2) 1p DELETION

3) N-myc amplification

4) DNA hyperdiploidy (near triploidy)
Wilms tumors are characterizedd by what thiphasic histological features?
1)Blastema

2) Immature Stroma

3) Tubules - an attempt to recapitulate nephrogenesis
High-dose oxygen with positive pressure ventilation can cause?
Bronchopulmonary Displasia
Adenosine deaminase deficiency causes?
Severe combined Immunodeficiency (SCID) - multiple recurrent severe infections from birth
Galactosemia marked by? causes?
fatty change and fibrosis in liver (unlike CF, no change to pancreas)

Diarrhea

Cataracts

Very Suscptible to E Coli septicemai
Alpha-1-Antitrypsin causes?
Cholestasis in children

Chronic livver disease develops later
Abnormality of globin chains?
Thalassemias - ANEMIA
Deficiency in Glucocerebrosidase

Does it cause hepatic failure?
Gaucher's Dz

Nope
Deficiency in Hexosaminidase A?
Tay-Sachs Dz
Hyperinsulinism in the fetus of a diabetic mother suppresses what?
Pulmonary SURFACTANT production
Oligohydramnios causes?
Pulmonary hypoplasia (NOT v surfactanat)
PKU affects tissues of?
CNS - can cause mental retardation
What is the recurrence rate of malformations?
2% - 7% for al first-degree relatives, regardless of sex and relationship to the index case
Surfactant synthesis increases greatly after ? weeks gestation?
35
Amplification of N-Myc oncogene indicates
Neuroblastomas (25% of the time)
SIDS occurs b/w what time frames?

what % in the 1st 6 months?
1 month - 1 year postpartum

90%
In CF, what does failure to secrete bicarb in the pancrease cause?
v pH -> ^ mucus preciptiation and ductal plugging -> exocrine pancreatic atrophy -> steatorrhea adn poor fat soluble vitamin absorption
In CF, what does vit A deficiency cause?
ductal squamous meatplasia
Rb is what kind of defect?
Germ-line mutation
Duodenal atresia defect of?
Trisomy 21
GI complication of prematurity?
Necrotizing enterocolitis
Does Hirschsprung disease cause bloody diarrhea?
No..just obstruction with distention
Projectile vomiting caused by?
Pyloric stenosis
Meconium ileus defect of?
CF
Renal agenesis will cause
Oligohydrmnios - flatted face & deformed feet
Fetal lung maturity is usually reached by when?
34-35 weeks
^ urine homovanillic acid level is a feature of?
Neruoblastoma
Placental mosaicism results from genetic mutations pre or post zygote formation?
post-zygote formation

placental defects cause ASYMMETRIC intrauterine growth retardation

nondisjuction of chromosomes pre-zygote formation results in SYMETTRIC deformaties
REtinoic acid embryopathy, characterized by cardiac, neural, carniofacial defects, results in?
error in expression of homeobox (HOX) genes important in embryonal patterning of limbs, vertebrae and craniofacial structures
Easrly amnion disruption will cause
Disruption
Embryonic amputation of digits, arms and legs
Amniotic Band Syndrome (caused by Disruption)
Multiple fetal losses EARLYin gestion suggest likelihood of?
Chromosomal abnormality
Maternal serum level of alpha-fetoprotein can identify?
Fetal NEURAL TUBE defects
Infection of ____ will lead to profound fetal ANEMIA with CARDIAC failure (ie cardiomegaly) and HYDROPS fetalis
Parvovirus B19

also cause of RASH (from FIFTH DISEASE)
When does Group B strep normally infect the fetus?
Near term/Peripartum
"mousy" urine odor associated with?

Stems from absense of?

Also what other unique association with this disease?
PKU -> Mental retardation & Seizures

Penylalanin Hydroxylase

v pigmentation of skin and hair
alpha-antitrypsin deficiency may cause?
Cholestasis as children leading to Chronic liver disease as adults
Galactosemia caused by?

Defect is?
Galactose-1-phosphate uridyltransferase deficiency

Severe liver disease
Deficiency in glucose-6-phosphatasea causes?
Von Gierke disease -> Liver failure
Lysosomal acid maltase deficiency causes? Disease called?
Cardiomegaly and Heart failure

Pompe disease
What test may help determine the presence of erythroblastosis fetalis?
Coombs test
Acute inflammation near term suggest?
Bacterial infection, of which Group B Strep is a common cause
What group causes stillbirths?
TORCH

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

NOT gohorreha!
The most common infantile tumor is?

A proliferation of?
Hemangioma

Capillaries