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19 Cards in this Set

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Tyrisinemia type 1
-increased incidence in quebec
-liver - organ failure w cirrhosis, ascites, jaundice, bleeding tendency
-kidney - enlargement, failure, tubular reabsorption problems (fanconi syndrome)
-bones - rickets
-CNS - neurologic crises (porphyria-lik) w any or all of - painful peripheral neuropathy, hypertension, rapid HR, arching, self-mutilation, weakness, paralytic respiratory failure
-liver > kidney > rickets
-defect in fumarylacetoacetate hydrolase, so fumarylacetoacetate builds up, gets converted to succinylacetone, excess succinylacetone causes phenotype (by blocking porphyrin pathway)
-NBS - high succinylacetone in urine is more sensitive and specific than high tyrosine
-tx: phen, tyr-restricted diet; NTBC (inhibits enzyme upstream); liver transplantation; kidney transplantation (only need for advanced kidney disease)
-untreated - die from liver failure or cancer
-treated - organ failure may still occur even w dietary changes. liver trasnplant is curative
-AR, carrier and prenatal tesitng possible
diagnosis of homocystinuria?
-NBS - high methionine (can also see high homocystine and methionine)
-low cystine in blood and urine
-postnatal testing: markedly increased plasma homocystine and methionine
-enzyme assay in leukocytes or fibroblasts to confirm diagnosis
treatment of homocystinuria?
-methionine-restricted diet with extra cystine
-vitamins - 50% responsive to B6
-betaine - alternative way of converting homocystine to methionine
nonketotic hyperglycinemia
-neuro phenotype -- profound hypotonia, lethargy, apnea, intractable seizures, myoclonic jerks, severe MR
-dx - elevated glycine in CSF (and usually in blood), increased CSF:blod glycine ratio; confirm by enzyme analysis in liver
-devastating even with treatment
-only citrullinemia and argininosuccinc acidemia
sensitivity of screening for trisomy 21 at 5% FPR?
quad - 76%
1st tri - 85-87%
fully integrated - 94-7%
sequential screening - 95% detection but 9% FPR (positive disclosed at 1st and 2nd tri)
contingent (only middle group after 1st tri comes back for 2nd tri test) - 91%, 4.5% FPR
timing for amnio and CVS
-amnio - after 15 weeks (though many say 16-18 weeks)
-CVS - 10 to 12 wk 6 days
timing for 1st tri screening and 2nd tri screening
-1st tri - 10-14 weeks
-2nd tri - 15-18 (20? weeks)
NTD detection rates
-AFAFP + ultrasound - 98% (all anencephaly)
-MSAFP (>2.5MoM) - 80% of NTD (90% o anencephaly)
causes of high MSAFP
gestational age older than calculated (but only recalcuate risk if >1 week off)
spina bifida
skin defects - pilonidal cysts, abndominal wall defects
GI defects - obstruction, liver necrosis, cloacal extrophy
cystic hygroma
sacrococcygeal teratoma
renal anomalies - urinary obstruction, polycystic kidney, absent kidney, congenital nephrosis
low birth weight
multiple gestation
decreased maternal weight
causes of low MSAFP
gestational younger than expected
chromosomal trisomies
hydatiform mole
fetal demise
increased maternal weight
at what gestational age can ultrasound assess fetal sex?
>15 weeks
causes of high AFAFP
underestimate gestational age
fetal blood contaminaition
fetal death
fetal abnormaltieis - omphalocele, congenital nephrosis,
unexplained variation in afp conc
breast ca risk ass'd with biopsy findings
-atypical hyperplasia
----25% lifetime risk w/o fhx
----40% lifetime risk w fhx
-----25% risk of cancer - anywhere
-----30% risk of cancer at that spot, if untreated
V-vertebral defects
A-anal atresia
TE - TE fistula
R - radial or renal dysplasia

VACTERL - + cardiac and limb malformations

-no facial dysmorphology
-differential is long b/c features are not v. specific
-good prognosis for intelligence
what percent of ooctyes are aneuploid?
read the question!
re-read the question after answering!
cause of CMT1A
duplication of PMP22 at 17p11.2
cause of HNPP
deletin of PMP22 at 17p11.2