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63 Cards in this Set
- Front
- Back
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The mutation in TSC1 is on which chromosome? What does it encode?
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1. 9q
2. Hamartin |
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The mutation in TSC2 is on which chromosome? What does it encode?
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1. 16p
2. Tuberin - GTPase |
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Are most TSC new mutations of inherited mutations?
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New
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TSC problems are involved in a mutation involving the function of what kind of genes?
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Tumor suppressor genes
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What is the clinical triad of TSC?
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1. Mental retardation
2. Epilepsy 3. Adenoma sebaceum |
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What would be a better term to describe a adenoma sebaceum?
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Angiofibroma - mixed up population of cells which are vascular smooth muscle cells and skin cells that become confused and causing little bumps.
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How many TSC patients exhibit the classical triad?
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1/3
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What are seven other features of TSC that are the most important ones?
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1. Subependymal calcifications
2. Sz 3. Olfactory hamartomas 4. Ashleaf spots/confetti nodule - need a Wood's lamp - hypopigmented 5. Adenoma sebaceum 6. Shawgreen patches 7. Ungral fibromas |
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Adenoma sebaceum is often confused with what?
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acne
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Subependymal lesions are often described as...
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Candle gutterings
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What are TSC symptoms usually seen in kids?
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1. Cardiac rhabdomyomas
2. Renal angiomyolipoma 3. Renal cysts 4. Pulmonay cysts 5. Liver hamartomas 6. Fibromas on their gumline 7. Renal hamartomas |
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Under histological examination of a rhabdomyoma, how is it described?
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Spiderlike appearance
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A retinal exam of someone with TSC is described as....
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Mullberry-like flat lesion
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What are the three common characteristics of OI?
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1. Osteopenia
2. Osteoporosis 3. Skeletal deformities |
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What is the MOI for OI?
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Autosomal dominant mutation affecting Type I collagen.
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What is the most common type of OI? When is its onset?
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1. Type 1
2. Childhood or adulthood |
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What are the clinical features of OI?
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1. Excessive bone fragility
2. Easy bruising, bone deformity 3. Hearing loss |
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What is characteristic of OI (I and II)?
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Blue to grey sclera
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Which OI type leads to infant death?
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OI II
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Is the MOI of OI II usually AD or AR?
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AD
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What is the hallmark of OI II?
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Extreme bone fragility - in utero fractures
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Which disorder can you see ballotable brains?
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OI II - almost non-existant skulls
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What features are most common to most variants of Ehlers-Danlos Syndrome?
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1. Marked skin hyperextensibility
2. Poor wound healing 3. Very stretchy skin 4. Excessive vulnerbility to trauma and bruising 5. Joint hyperlaxity |
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What is the MOI of Vascular EDS?
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AD
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What is the usual cause of death in Vascular EDS?
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Ruptured abdominal aneurysm
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How do you tell an aneurysm from vascular EDS from arteriosclerosis??
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The vessels with arteriosclerosis usually are hard unlike vessels in vascular EDS.
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The mutation in vascular EDS is in what gene?
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Type III collagen: COL3A1
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Where can you find type III collagen?
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Blood vessels and intestine
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What are the common mutations involving Type III collagen in vascular EDS?
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1. Decreased rate of synthesis of pro alpha-1 chains for Type III
2. Decreased rate of secretion of Type III procollagen 3. Synthesis of abnormal type III collagen |
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What is the MOI for kyphoscoliosis EDS?
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AR
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What is mutated in kyphoscoliosis EDS?
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Lysyl hydroxylase
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What is the MOI for arthrochalasia EDS?
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AD
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What is the MOI for dermatosparaxis EDS?
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AR
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What type of collagen is affected in arthrochalasia and dermatosparaxis EDS?
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Type I collagen
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What is defective in arthrochalasia EDS?
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COL1A1 and COL1A2 which makes them resistant to peptidase cleavages.
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What is defective in dermatosparaxis EDS?
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The enzyme procollagen-N-peptidase - necessary for COL1A1 and COL1A2 cleavage.
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What is the MOI for classic EDS?
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AD
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What is defective in classic EDS?
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Type V collagen: COL5A1 and COL5A2 (30% to 50%)
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Which two EDS are AR?
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1. Kyphoscoliosis
2. Dermatosparaxis |
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What is the defect in Marfan Syndrome?
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Fibrillin (FBN 1)
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Most of the gene mutations in Marfan's are of what type?
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Missense mutations
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What is Marfan's until proven otherwise.
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Bilateral ectopic lentis
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Dolichocephaly
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Marfan's Syndrome
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Supraorbital prominence
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Marfan's Syndrome
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Ectasia of the dural sac
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Marfan's Syndrome
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Arachnodactyly
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Marfan's Syndrome
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High arched palates
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Marfan's Syndrome
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Aortic root disection and aortic disection
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Marfan's Syndrome
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Tay Sachs predominantly affects...
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CNS neurons
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Neimann-Pick predominantly affects....
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CNS neurons and macrophages (50/50)
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Gaucher predominantly affects...
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Macrophages
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What is the defective enzyme in Tay-Sachs?
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Hexosaminidase A alpha
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What is the defective enzyme in Sandoff?
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Hexosaminidase A beta
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What accumulates in Tay-Sachs?
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GM2 gangliosides
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What accumulates in Sandoff
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GM2 gangliosides
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What is defective in Niemann-Pick disease?
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Sphingomyelinase
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What type of Niemann-Pick disease is most prominent?
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A
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What accumulates in Niemann-Pick disease?
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Sphingomeylin
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What is the defect in Gaucher disease?
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Glucocerebrosidase
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What accumulates in Gaucher disease?
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Glucocerebroside
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What is the age of death in Tay-Sachs?
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2-5 years
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What is the age of death in Niemann Pick disease?
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Less than 3 years
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Hypotonia is an important symptom in which lysosomal storage disorder?
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Niemann Pick disease
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