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MCB 1 (block 3)
block three diseases
| Question | Answer |
|---|---|
| Spinal Muscular Atrophy (SMA) | Symptoms: Muscle weakness/atrophy, hypotonia, dysphagia, RTI Mutated SMN -> defective snRNP -> defective splicing -> loss of motor neurons (SC/brainstem) |
| I-cell disease | Defective GlcNAc phosphotransferase --> no M6P tag sym: slow growth, psychomotor retardation, HSmegaly, valve defects, corneal clouding |
| Tuberculosis | interfers w/ Rab --> prevents phagolysosome formation (binding of phagosome to lysosome) |
| Hunter syndrome | deficiency of iduronodate sulphatase X-linked Physical/mental retardation, deafness, HSmegaly, chronic diarrhea, joint stiffness, (NO corneal clouding) onset: 2-4yr survival 30+yr |
| Hurler syndrome | deficiency of a-L-iduronidase accumulation of dermatan/heparan sulfate MR, deafness, HSmegaly, chronic diarrhea, joint stiffness, hirsutism, corneal clouding |
| Scheie & Hurler-Scheie syndrome | residual a-L-iduronidase |
| Sanfilippo syndrome | defect in heparan sulfate degradation AGGRESSION/MR, seizures, dementia |
| Morquio syndrome | deficient galactosamin-6 sulphatase or B-galactosidase --> accumulation of keratan sulfate Skeletal, deafness, NORMAL IQ |
| Gaucher's disease | deficiency of glucocerebrosidase accumulation of glucocerebroside organomegaly w/ bone marrow & CNS inflitration elongated/distended lysosomes |
| Pseudo-Hurler polydystrophy | partial function of GlcNAc -> mild I-cell dz |
| Chediak-Higashi syndrome | Mutant CHS1/LYST gene (lysosomal trafficking) delated phagolysosomal fusion autophagocytosis of melanosomes in melanocytes Granular defect in NK cells & Plts Albinism, chronic infections, coagulopathy, |
| Zellweger syndrome | Mutant PEX gene peroxins don't recognize SKL -> VLCFA accumulation in tissues Neuro(seizures, MR, hypotonia/reflexia) Dysmorphic (big forehead, hypertelorism) HSmegaly |
| XALD | defective transport of VLCFA into peroxisomes Accumulate in Brain & Adrenal cortex |
| Lamellar cristae located where? | hepatocyte, skeletal mm & SPERM "Lamar lifts (skeletal), drank (liver) and loved (SPERM) many bitches" |
| Tubular cristae located where? | Steroid secreting cells "its tubular to be huge" |
| Barth syndrome | X-linked mitochondrial disorder Defective Cardiolipin Chronic weakness, cardiomyopathy, neutropenia (high infant mortality) |
| Huntington's disease | NES is cleaved; inability to transport/nuclear membrane disorder |
| Rabies | Confusion, agitation, delirium, hallucination, hydrophobia/photophobia. Can cause encephalitis --> malaise, fever, headache. Virus ascends to CNS along peripheral nerves |
| Varicella Zoster | Dermatomal distribution. Lies dormant in DRG, travels down sensory nerves to skin |
| Familial MND | dynactin p150 subunit |
| Familial ALS | Superoxide dismutase 1 (SOD1) |
| Alzheimer's disease | Presinilin 1/2, a/B-amyloid precursor |
| Dilated Cardiomyopathy | Lamin A/C defect or Actin mutation |
Created by:
alejandrodizzle
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