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40 Cards in this Set
- Front
- Back
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What collagen type is most frequently affected in Ehlers-Danlos?
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Type III- reticulin- skin, blood vessels, uterus, fetal tissue, granulation tissue- hyperextensible skin, bleed/bruise, hypermobile jts
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What collagen type is most frequently affected in Osteogenesis imperfecta?
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Type I (Type II is fatal in utero)- bone, skin, tendon, dentin, fascia, cornea, late wound repair- fractures, blue sclerae, HL, dental imperfections
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What collagen type is most frequently affected in Alport's syndrome?
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Type IV- basement membrane- nephritis, deafness, ocular distrubances
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What inhibits elastase?
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Alpha 1- Antitrypsin- deficiency can cause emphysema with excessive elstase activity
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Example of codominance
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neither of 2 alleles is dominant; blood groups
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Example of pleiotropy
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PKU causes many seemingly unrelated symptoms from MR to hair skin changes
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Example of loss of heterozygosity
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inherited mt in tumor suppressor gene w cancer developing when the complementary allele is deleted/mt- Retinoblastoma
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Example of locus heterogeneity
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mt at different loci can produce the same phenotype- Marfan's, MEN IIB, and homocytinuria w marfanoid habitus
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Example of Imprinting
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deletion of the active allele at a locus that normally has only one active gene;
Chromosome 15; Prader-Willi- paternal deletion; Angelman's- maternal deletion; |
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Key to x-linked modes of inheritance
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no male-to-male transmission
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Example of X-linked dominant condition?
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Hypphospatemic rickets-
either M or F offspring of affected mother; all F offspring of affected father- rickets-like presentation |
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Example of mitochondrial inheritance?
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Leber's hereditary optic neuropathy- degeneration of retinal ganglion cells and axons leading to acute loss of central vision
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What is achondroplasia?
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AD- FGF R3 cell-signaling defect- dwarfism; advanced paternal age
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What is mutated in polycystic kidney disease and on what chromosome?
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APKD1 mt on Chromosome 16;
bilateral- massive kidneys w multiple cysts polycystic liver disease, berry aneurysms, Mitral valve prolapse |
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What is familial adenomatous polyposis?
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AD, chromosome 5, APC gene deletion
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What is familial hypercholesterolemia?
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AD w elevated LDL= 300+ w atherosclerotic disease early in life; tendon xanthoas; MI at 20
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What is hereditary hemorrhagic telangiectasia?
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AD of blood vessels= AVMs, telangectasia, recurrent epistaxis, skin discoloraiton
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What is MEN?
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AD- tumors of endocrin glands- pancreas, parathyroid, pituitary, thyroid, and adrenal medulla; 2A and 2B- assoc w ret gene
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What is different about Tuberous Scloerosis?
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incomplete penetrance- variable presentation- AD; adenoma sebaceum, ash leaf spots, cortical and retinal hamartomas, seizures, MR, renal cysts and angiomyolipomas, cardiac rhabdomyomas, astrocytomas
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What is von Hippel Lindau?
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bilateral renal cell carcinomasa w deletion of VHL gene on Chromosome 3
w HIF constitutively expressed and angiogenic GF activation |
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What are some AD disorders?
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Achondroplasia, ADPKD. FAP, familial hypercholesterolemia, hereditary hemorrhagic telangiectasia, hereditary spherocytosis, Huntington's, Marfan's, MEN, Neurofibromatosis, Tuberous Sclerosis, VHL disease
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What is CF genetically?
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AR of CFTR gene on chromosome 7
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What are examples of trinucleotide repeat expansion disease?
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Huntington's (CAG)
Myotonic dystophy (CTG) Fragile X (CGG) Friedreich's Ataxia (GAA) |
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What type of inheritance and presentation in Huntingotn's Disease?
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AD; caudate atrophy- depression, dementia, choreiform movement; decreased GABA and ACh; chromosome 4
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What type of inheritance and presentation in Fragile X syndrome
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X-linked affecting methylation and expression of FMR1 gene - 2nd MR; macro-orchidism, long face w large haw, large everted ears, autism, MVP
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How do you Dx Muscular Dystrophy?
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X-linked frameshift mt w dystrophyn gene mt; Gower's sign; onset before 5 yo; increased CPK at muscular biopsy; x- linked recessive
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What type of inheritance and presentation in Down Syndrome?
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Trisomy 21-flat facies, prominant epicanthal folds, simian crease; ASD
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Ultrasound of Down's Fetus and pregnancy screen?
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Decreased: alpha-fetoprotein, estriol
Increased: Beta-hCG, inhibin A Increased nuchal translucency |
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What type of inheritance and presentation Edward's Syndrome?
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Trisomy 18
micrognathia, low set ears, clenched hands, prominent occiput, congenital HD, Death <1 yo |
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What type of inheritance and presentation Patau's Syndrome?
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Trisomy 13
severe MR, rocker bottom ft, microphthalmia, microcephaly, cleft lip/ palate, holoprosencephaly, polydactyly, CHD, Death < 1 yo |
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What type of inheritance and presentation of Cri-du-chat?
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microdeletion of short arm of C5; microcephaly, moderate-severe MR, high pitched crying/mewing, epicanthal folds, cardiac ab
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What type of inheritance and presentation in Williams Syndrome?
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microdeletion of long arm of C7 (elastin gene); elfin facies, MR, hyper-Ca, well developed verbal skills, extreme friendliness w strangers, cardiovascular problems
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What syndromes are associated with 22q11 deletion?
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DiGeorge- thymic, parathyroid, and cardiac defects
Velocardiofacial- palate, facial, and cardiac defects (hypo-Ca) |
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What is a Robertsonian Translocation?
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2 acrocentric C fuse at the centromere and the 2 short arms are lost; 13, 14, 15, 21, 22; balanced- no abnormalities but can get unbalanced and cause Down's or Patau
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Where are fat soluble vitamins absorbed?
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Ileum also depending on a functioning pancreas and accumulate in fat; DAKE; steatorrhea
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What water soluble vitamins are stored in the liver?
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B12 and folate
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Findings of B complex deficiency?
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dermatitis, glossitis, and diarrhea
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What is isotretinoin prescribed for and why must you be careful giving it in women?
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Severe acne- Vitamin A- teratogenic- cleft palate, cardiac abnormaltities in fetus
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What is deficient in Wernicke-Korsakoff and Beriberi?
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Vitamin B1 (thiamine)
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Riboflavin is what?
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Vitamin B2 fx as cofactor in oxidation and reduction of FADH2;
deficiency- cheilosis, corneal vascularization |
