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15 Cards in this Set
- Front
- Back
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what is the most common lysosomal storage disease?
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Gaucher's
presents with aseptic necrosis of femur, heapatosplenomegaly, and macrophages that look like crumpled paper beta-glucocerebrosidase is deficient glucocerebroside accumulates AR inheritence |
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infant presents with progressive neurodegeneration and a cherry-red spot on the macula. What additional finding can differentiate between two lysosomal storage diseases?
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Niemann-Pick will have HEPATOSPLENOMEGALY
Tay-Sachs will have lysosomes with "onion-skinning" |
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how can you differentiate between Hunter's and Hurler's?
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Hurler's has gargoylism, developmental delay, airway obstruction, corneal clouding, and hepatosplenomegaly
Hunter's is mild Hurler's with aggressive behavior and no corneal clouding. It is also XR!! |
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what are the two LSD that are XR?
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Fabry's and Hunter's
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infant presents with peripheral neuropathy of hands and feet, angiokeratomas, CV and renal disease. Dx?
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Fabry's.
XR! |
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what gene is involved with anterior-posterior development?
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sonic hedgehog
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what are the effects of taking diethylstilbestrol?
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vaginal clear cell carcoinoma
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When there is elevated AFP in amniotic fluid, what structural defect should you suspect?
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Neural tube defects
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define syringomyelia
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a cyst or enlargement of the spinal canal
the brain can herniate into the canal can cause "cape like" numbness, or loss of extreme temp sense, especially in the hands bilaterally. touch sense remains associated with Arnold-Chiari II |
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how are gastroschisis and omphalocele different?
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Both are herniation of gut through the abdominal wall.
Omphalocele is covered in peritoneum |
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what is the fate of the mesonephros?
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functions as temporary kidney for 1st trimester, then contributes to male genital system
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describe Potter's syndrome
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there is bilateral renal agenesis.
as a result, the baby cannot pee out amniotic fluid there is oligohydraminos which leads to limb deformaties and pulmonary hyperplasia caused by malformation of ureteric bud |
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describe female genital development
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the mesonephric duct withers
paramesonephric duct develops into fallopian tubes, uterus, and upper 1/3 of vagina |
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describe male genital development
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mesonephric duct is induced to remain by testosterone from leydig cells
Mullerian inhibitory factor from sertoli cells inhibits paramesonephric develops into seminal vesicles, ejaculatory duct. epidymus, and ductus deferens |
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differentiate hypospadias and epispadias
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hypo is on the ventral side and more common
epi is dorsal...will pEE in your EyEE with EEEpi |
