AUTOSOMAL RECESSIVE DISORDERS
Keyboard Associations
Condition ⇔ Deficiency/Symptom
•Alkaptonuria ⇔ Homogentisic oxidase
•Cori’s Disease (Glycogen Storage III) ⇔ Amylo 1, 6-glucosidase
•Pompe’s (Glycogenesis II) ⇔ α-1,4 glucosidase
•Von Gierke’s (Glycogenesis I) ⇔ Glucose-6-phosphatase
•McArdle’s (Glycogenesis V) ⇔ Muscle phosphorylase
•Galactosemia ⇔ Galactose-1-phosphate uridyl transferase
•Tay-Sachs ⇔ Hexosaminidase A
•Hurler’s ⇔ α-L-Iduronidase
•Gaucher’s ⇔ Glucocerebrosidase
•Niemann-Pick ⇔ Sphingomyelinase
•Phenylketonuria ⇔ Phenylalanine hydroxylase
•Wilson’s disease (Hepatolenticular degeneration) ⇔ Decreased serum ceruloplasmin (a copper binder)
•Cystic fibrosis ⇔ Exocrine malfunction, thick mucus, sweat test (high Cl-), chromosome 7
•Sickle Cell anemia ⇔ Afro-Americans, Chromosome 11, hypoxia
•Alpha-Thalassemia ⇔ Insufficient alpha-globin, chromosome 16, Bart’s anemia
•Beta-Thalassemia ⇔ beta-globin deficiency, Cooley’s anemia
•ADA (Adenosine deaminase) ⇔ Impaired A and T
26. SEX-LINKED ANOMALIES
Keyboard Associations
Condition ⇔ Deficiency
•Duchenne muscular dystrophy ⇔ Dystrophin defect, pseudohypertrophy of calf
•Becker muscular dystrophy ⇔ dystrophin deficiency
•Wiskott-Aldrich Syndrome ⇔ B and T defect, thrombocytopenia, see Immune deficiency
•Lesch-Nyhan ⇔ Hypoxanthine-guanine phosphoribosyl transferase deficiency, self-mutilation, mental retardation
•Hunter’s ⇔ L-Iduronosulfate sulfatase
•Glucose-6-phosphate dehydrogenase deficiency ⇔ Hemolytic anemia, oxidative injury, antimalarial, sulfonamide
•Hemophilia A (Classic) ⇔ Factor VIII
•Fabry’s ⇔ α-galactosidase A
•Fragile X ⇔ Dominant, Folate deficiency, CGG trinucleotide repeat, mental retardation
•Bruton’s agammaglobulinemia ⇔ B cell defect
27. AUTOSOMAL DOMINANT CONDITIONS
Keyboard Associations
Condition ⇔ Attributes
•Adult-polycystic kidney disease ⇔ Renal cyst, Liver, Berry aneurysm, Mitral
•Familial hypercholesterolemia ⇔ Myocardial infarction, LDL receptors
•Huntington’s ⇔ Progressive dementia, Chromosome 4, low GABA
•Hereditary Hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome) ⇔ Skin telangiectasia, convoluted venules
•Familial Polyposis coli ⇔ APC gene, chromosome 5, Colonal cancer
•Von Hippel-Lindau ⇔ Hemangioblastoma, Chromosome 3, Renal tumors
•Von Recklinghausen’s (Neurofibromatosis) ⇔ Café au lait spots, neural tumors, Chromosome 17
•Marfan’s ⇔ Fibrillin, floppy mitral, lens subluxation, tall stature
•Hereditary Spherocytosis ⇔ hemolytic anemia
•Thorotrast ⇔ Hepatic angiosarcoma
•Retinoblastoma ⇔ Risk of osteosarcoma and breast carcinoma
•Ehlers Danlos Syndrome ⇔ Collagen and elastin defect, elastic skin, easy bleeding
•Von Willebrand ⇔ Bleeding
28. CHROMOSOMAL ABERRATIONS
•Down’s Syndrome ⇔ Trisomy 21, non-disjunction, mental retardation, Simian crease
•Edwards’s ⇔ Trisomy 18, PDA, Clenched fist
•Patau’s ⇔ Trisomy 13, syndactyly, mental retardation
•Cri du chat ⇔ Chromosome 5, mental retardation, microencephaly
•Klinefelter’s ⇔ XXY, male hypogonadism, low IQ, Barr bodies (buccal smear)
•XYY Syndrome ⇔ violent behavior, severe acne
•XXX Syndrome ⇔ mental retardation
•Turner’s syndrome ⇔ XO, female hypogonadism, no Barr bodies
•Fragile X ⇔ Frequency of mental retardation is second after Down’s, long arm of chromosome X defect
29. VASOACTIVE AGENTS
Vasoconstriction
•Thromboxane A2 (TXA2)
•Leukotrienes: LTC4, LTD4, and LTE4
•Platelet activating factor (RAF)
Vasodilation
•Endothelial Prostacyclin PGI2
•PGD2, PGE2, PGF2α
•Bradykinin
•RAF
•EDRF (endothelial derived relaxing factor) = NO (nitric oxide)
Increasing Vascular Permeability
•Serotonin
•Histamine
•Bradykinin
•PGD2, PGE2, PGF2α
•LTC4, LTE4, LTD4
