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76 Cards in this Set
- Front
- Back
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Phocomelia (seal-like upper limb)
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thalidomide
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Child with complete heart block at birth
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SLE: anti-Ro IgG antibodies from the mother cross the placenta and attack conduction system
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Small for gestational age child
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smoking
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Newborn with craniofacial defects
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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
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SIDS at 4 months
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smoker
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Infant with microcephaly and an atrial septal defect
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fetal alcohol syndrome
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Young woman with repeated spontaneous abortions
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DES during pregnancy: cervical incompetence
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Newborn develops respiratory distress syndrome
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Fetal insulin inhibits surfactant production
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Newborn with disseminated vesicular rash (positive Tzanck prep) and intrauterine growth retardation
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Herpes simplex virus type 2. Newborn contracts virus by passing through birth canal
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Newborn with periventricular calcification
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Abnormal cytological finding in newborn urine sediment: congenital CMV (transplacental). Urine is best culture medium
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Newborn with a machinery murmur and sensorineural hearing loss
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: congenital rubella (transplacental), patent ductus arteriosus (machinery murmur).
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Child with blindness, peg teeth, and nasal defect
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Mother is IV drug abuser and prostitute: syphilis in mother produces congenital syphilis in newborn (transplacental). Nasal defect is saddle nose deformity
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Newborn with blindness and basal ganglia calcification
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Cat breeder: toxoplasmosis. Pregnant women should avoid cat litter
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Decreased glomerular filtration rate
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Drug nephrotoxicity: get pharmacy to calculate creatinine clearance and dose and timing of drug
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Femoral fracture from a fall: blurry vision from cataracts is responsible
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Cataracts
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Presbycusis/otosclerosis
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Car accident: former produces sensorineural deafness and the latter conductive hearing loss
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Loss of skin elasticity
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senile purpura
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Loss of elasticity of the aorta
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increases systolic pressure
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Decreased T cell function (e.g., skin anergy)
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False negative PPD in a patient with TB exposure: older people are relatively anergic
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Child with hepatorenomegaly and fasting hypoglycemia unresponsive to a glucagon challenge
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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
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Child has mental retardation and microcephaly. Tyrosine is decreased
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Phenylalanine hydroxylase: child has PKU. Phenylalanine is increased and tyrosine is decreased
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Newborn with fasting hypoglycemia, liver and renal disease. Fructose is present in urine
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the patient has hereditary fructose intolerance due to a deficiency of aldolase B
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Adult with muscle fatigue and no increase in lactic acid with exercise
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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.
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Adult with degenerative joint disease and black urine on exposure to light
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Homogentisate oxidase: alkaptonuria
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Infant with blindness, cherry red macula, profound mental retardation, and retinal abnormality
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Tay Sachs with a deficiency of hexosaminidase A
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Infant with mental retardation, corneal clouding, coarse facial features
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Iduronidase: Hurler's syndrome
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Adult with hepatosplenomegaly and macrophages in bone marrow with fibrillar appearance
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Glucocerebrosidase: adult Gaucher's. Macrophages have fibrillary appearance
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Child with mental retardation, self-mutilation, and a defect in purine metabolism
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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
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Black man with leprosy who develops hemoglobinuria and anemia shortly after taking dapsone
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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).
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Mosaicism
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mitosis
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advanced maternal age
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Downs
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MC sex chromosome syndrome recognized at birth
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Turner's
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MC genetic cause of mental retardation
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Downs
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MC genetic cause of primary amenorrhea
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Turner's
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Tay-Sachs
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GM2, ganglioside
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Gaucher's
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glucocerebroside
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Neimann-Picks-
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sphingomyelin
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Hurler's disease
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dermatan and heparan sulfate
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Pompe's disease
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normal glycogen
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MC X-linked recessive disorder
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Fragile-X
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macroorchidism at puberty
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Fragile-X
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true hermaphrodites are what genetic makeup
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46XX
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MCC of male pseudohermaphroditisms
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testicular feminzation
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open neural tube defects occur when
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23-28 days when iy closes
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what is most common tetrogen in US
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fetal aclcohol syndrome
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most common cardiac defect in fetal alcohol and most common problem
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PDA and mental retardation
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most congenital infections occur how
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transplacental
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produces microcephaly, renal agenesis, congental heart disease
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cocaine
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DOC for pregnant anti-coagulation
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heparin, warafin is tetragoenic
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MC transplacental transmission
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CMV
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toxoplasmosis
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transplacental
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herpes
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cervix
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syphillis
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transplacental
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MC thing at autopsy in SIDS
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hypoxia
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MC cause of stillbirths
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antepartum bleeding, abruptio
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most spontaneous abortions due to what genetic disorder
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trisomy 16
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MCC of death in neonatal periods
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RDS
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small for gestation age-has highest
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mortality
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large for gestational age MCCq
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mother with diabetes
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age-dependant finding in lungs with old age
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obstructive, no illness or death
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MC AGE related cause of dementia
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Alzhemier's
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MCC of sensiroual hearing loss
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presbycusis
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MCC of conductive hear loss with age
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otosclerosis
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MC valvular disease in old age
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aortic stenosis-degenerative
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MCC of pneumonia
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S. pneumoniae, unless in nursing home than Kleibsiella
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MCC of strokes in elderly
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atheroslcerosis
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MCC of blindess in elderly
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macular degeneration
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MCC of monoclonal spike in elderly
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MGUS
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MCC skin cancer in old
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basal cell
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MCC diabetes in adult. elderly
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type II
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3 inborn errors of metabolism resulting in hypoglycemia
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von gierkes
hereditary fructose intolerance galactosemia |
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Deficiency of aldolase B requires that the patient not eat fruits or honey
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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
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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
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Homocysteine + serine ® cystathionine: this is homocystinuria
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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
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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
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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
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Fructose ® fructose 1-PO4 (fructokinase deficiency), C. Galactose ® galactose 1-PO4 (galactokinase deficiency)
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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
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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
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