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76 Cards in this Set

  • Front
  • Back
Phocomelia (seal-like upper limb)
Child with complete heart block at birth
SLE: anti-Ro IgG antibodies from the mother cross the placenta and attack conduction system
Small for gestational age child
Newborn with craniofacial defects
Cystic acne under treatment: isotretinoin; in females, always do a pregnancy test before putting them on this drug. Isotretinoin disrupts function of the HOX gene, which is important in morphogenesis
SIDS at 4 months
Infant with microcephaly and an atrial septal defect
fetal alcohol syndrome
Young woman with repeated spontaneous abortions
DES during pregnancy: cervical incompetence
Newborn develops respiratory distress syndrome
Fetal insulin inhibits surfactant production
Newborn with disseminated vesicular rash (positive Tzanck prep) and intrauterine growth retardation
Herpes simplex virus type 2. Newborn contracts virus by passing through birth canal
Newborn with periventricular calcification
Abnormal cytological finding in newborn urine sediment: congenital CMV (transplacental). Urine is best culture medium
Newborn with a machinery murmur and sensorineural hearing loss
: congenital rubella (transplacental), patent ductus arteriosus (machinery murmur).
Child with blindness, peg teeth, and nasal defect
Mother is IV drug abuser and prostitute: syphilis in mother produces congenital syphilis in newborn (transplacental). Nasal defect is saddle nose deformity
Newborn with blindness and basal ganglia calcification
Cat breeder: toxoplasmosis. Pregnant women should avoid cat litter
Decreased glomerular filtration rate
Drug nephrotoxicity: get pharmacy to calculate creatinine clearance and dose and timing of drug
Femoral fracture from a fall: blurry vision from cataracts is responsible
Car accident: former produces sensorineural deafness and the latter conductive hearing loss
Loss of skin elasticity
senile purpura
Loss of elasticity of the aorta
increases systolic pressure
Decreased T cell function (e.g., skin anergy)
False negative PPD in a patient with TB exposure: older people are relatively anergic
Child with hepatorenomegaly and fasting hypoglycemia unresponsive to a glucagon challenge
the patient has von Gierke's disease with deficient glucose 6-phosphatase, a gluconeogenic enzyme; therefore, stimulation of gluconeogenesis does not increase the glucose due to the enzyme block
Child has mental retardation and microcephaly. Tyrosine is decreased
Phenylalanine hydroxylase: child has PKU. Phenylalanine is increased and tyrosine is decreased
Newborn with fasting hypoglycemia, liver and renal disease. Fructose is present in urine
the patient has hereditary fructose intolerance due to a deficiency of aldolase B
Adult with muscle fatigue and no increase in lactic acid with exercise
Muscle phosphorylase: McArdles glycogenosis. Absence of muscle phosphorylase leads to inability to degrade glycogen into glucose for energy in muscle. Lactic acid does not increase with exercise. Increase in normal glycogen in muscle.
Adult with degenerative joint disease and black urine on exposure to light
Homogentisate oxidase: alkaptonuria
Infant with blindness, cherry red macula, profound mental retardation, and retinal abnormality
Tay Sachs with a deficiency of hexosaminidase A
Infant with mental retardation, corneal clouding, coarse facial features
Iduronidase: Hurler's syndrome
Adult with hepatosplenomegaly and macrophages in bone marrow with fibrillar appearance
Glucocerebrosidase: adult Gaucher's. Macrophages have fibrillary appearance
Child with mental retardation, self-mutilation, and a defect in purine metabolism
Lesch-Nyhan syndrome, an X-R with a deficiency of HGPRT in purine metabolism, leading to an increase in uric acid, severe mental retardation, and self mutilation
Black man with leprosy who develops hemoglobinuria and anemia shortly after taking dapsone
Glucose 6-phosphate dehydrogenase deficiency: dapsone is a sulfur drug. Since no GSH is present in RBCs, peroxide denatures Hgb (Heinz bodies) and damages the RBC membrane (intravascular hemolysis).
advanced maternal age
MC sex chromosome syndrome recognized at birth
MC genetic cause of mental retardation
MC genetic cause of primary amenorrhea
GM2, ganglioside
Hurler's disease
dermatan and heparan sulfate
Pompe's disease
normal glycogen
MC X-linked recessive disorder
macroorchidism at puberty
true hermaphrodites are what genetic makeup
MCC of male pseudohermaphroditisms
testicular feminzation
open neural tube defects occur when
23-28 days when iy closes
what is most common tetrogen in US
fetal aclcohol syndrome
most common cardiac defect in fetal alcohol and most common problem
PDA and mental retardation
most congenital infections occur how
produces microcephaly, renal agenesis, congental heart disease
DOC for pregnant anti-coagulation
heparin, warafin is tetragoenic
MC transplacental transmission
MC thing at autopsy in SIDS
MC cause of stillbirths
antepartum bleeding, abruptio
most spontaneous abortions due to what genetic disorder
trisomy 16
MCC of death in neonatal periods
small for gestation age-has highest
large for gestational age MCCq
mother with diabetes
age-dependant finding in lungs with old age
obstructive, no illness or death
MC AGE related cause of dementia
MCC of sensiroual hearing loss
MCC of conductive hear loss with age
MC valvular disease in old age
aortic stenosis-degenerative
MCC of pneumonia
S. pneumoniae, unless in nursing home than Kleibsiella
MCC of strokes in elderly
MCC of blindess in elderly
macular degeneration
MCC of monoclonal spike in elderly
MCC skin cancer in old
basal cell
MCC diabetes in adult. elderly
type II
3 inborn errors of metabolism resulting in hypoglycemia
von gierkes

hereditary fructose intolerance

Deficiency of aldolase B requires that the patient not eat fruits or honey
Fructose 1-PO4 ® glyceraldehyde 3- phosphate + dihydroxyacetone phosphate: the patient has hereditary fructose intolerance. Note that the patient cannot synthesize glucose in the fasting state, owing to the absence of the (2) 3 carbon intermediates
Deficiency of cystathionine synthase leads to accumulation of a substrate that cause vessel thrombosis and some clinical findings that are similar to Marfan's syndrome
Homocysteine + serine ® cystathionine: this is homocystinuria
Deficiency of an enzyme in this inborn error of metabolism results in the loss of a 6 carbon substrate that could be used for gluconeogenesis, hence producing fasting hypoglycemia. Patients must restrict their intake of dairy products
Galactose 1-PO4 + UDP-glucose ® glucose 1-PO4 + UDP-galactose: the patient has galactosemia, which is due to a deficiency of GALT. This causes a decrease in glucose 1-phosphate, which is converted into glucose 6-phosphate. Galactose and galactitol accumulate resulting in cataracts, liver and kidney disease. Since galactose derives from lactose, dairy products must be avoided
Enzyme deficiencies in these biochemical reactions lead to benign inborn errors of metabolism characterized by an accumulation of 6 carbon sugars that react with Clinitest tablets SELECT 2
Fructose ® fructose 1-PO4 (fructokinase deficiency), C. Galactose ® galactose 1-PO4 (galactokinase deficiency)
This biochemical reaction is catalyzed by a gluconeogenic enzyme, which when deficient in the newborn, causes fasting hypoglycemia and hepatorenomegaly from an accumulation of glycogen. Stimulation tests for gluconeogenesis (e.g., glucagon, galactose, fructose) do not result in an increase in the serum glucose
Glucose 6-PO4 ® glucose: this is von Gierke's glycogenesis, the only glycogenosis involving a deficiency of a gluconeogenic enzyme, which in this case is glucose 6-phosphatase. Fasting glucose is decreased, as expected, and glucose 6-phosphate (distal to the enzyme block) leads to increased synthesis of glycogen in tissues containing gluconeogenic enzymes, liver and kidneys. Stimulation tests do not work, since the enzyme is missing