BC CC Flashcards
Scurvy -
Vitamin C Deficiency - Collagen synthesis is unable to proceed. Enzyme: Prolysl hydroxylase Clinical: Bleeding gums, subcutaneous hemorrhaging & poor wound healing.
Ehler Danlos IV -
Type III Collagen abnormalities Clinical: Rupturing of bowel arterties
Ehler Danlos VI -
Enzyme deficiency: Lysyl hydroxylase or Prolysal hydroxylase - No Type II Collagen production Clinical: Ocular rupture
Ehler Danlos VIIc -
Procollagen N-proteinase deficiency Clinical: Joint hypermobility
Alport Syndrome -
X linked & Autosomal Affects structure of collagen type IV in basement membrane of cells. Clinical: Hematuria & End Stage Renal Disease
William’s Syndrome -
Deletion of Elastin gene - Affects connective tissue and CNS Clinical: Supravalvular aortic stenosis
Marfan’s Syndrome -
Autosomal dominant mutation of fibrillin gene Clinical: Tall, long digits, hyper-extensibility of joints and ascending aorta (weakeness in aorta media).
Dipalmitoylphosphatidylcholine -
Major component of lung surfactant! Clinical: Respiratory distress syndrome in infants born premature.
Tay-Sachs Disease -
Beta-Hexosaminidase deficiency - Accumulation of GM2 Clinical: Rapid/Progressive neurodegeneration, blindness, cherry red macula, muscular weakness & seizures
Gauchner’s Disease -
Deficiency in glucocerebrosidase - Accumulation of glucocerebroside - Most common sphingolipid defect (1/1000 Jews) Clinical: Hepatosplenomegaly, osteoporosis of long bones & severe neurological signs.
Graves Disease -
Autoimmune Disease - Antibodies against thyroid stimulating hormone (TSH) receptors
Myasthenia Gravis -
Autoimmune Disease - Antibodies against nicotinic acetylcholine receptors Clinical: Muscle weakness & fatigue
Marasmus -
Extreme wasting from prolonged negative energy balance. - Loss of protein from heart, kidney, liver & skeletal muscle. - Occurs in both children & adults
Kwashiorkor -
Affects undernourished children in developing countries. Believed to be caused by a diet adequate in calories, but lacking in proteins (Arginine). Clinical: poor growth, low plasma protein, low amino acid, muscle wasting, edema (stomach), fatty lover, diarrhea & increased susceptibility to infection.
Kussmaul Respirations -
Associated with difficulty expelling CO2
Muscular Dystrophy - Duchenne -
Dystrophin is absent (mutation on X chromosome). Diagnose: Creatine Kinase levels, muscle biopsy & dystrophin analysis (western blot). Treatment: Prednisone & PT
Muscular Dystrophy - Becker -
Dystrophin is severely reduced Diagnose: Creatine Kinase levels, muscle biopsy & dystrophin analysis (western blot). Treatment: Prednisone & PT
Muscular Dystrophy Symptoms & Progession -
Clinical: Muscle degeneration & progressive weakness, elevated creatine in serum (creatinuria), delayed gross motor function (2-5 years), progressive weakness, waddling gate, lordosis, difficulty rising from supine position (GOWER’S SIGN), calf muscle hypertrophy (fat and CT replace muscle) & joint deformities. - Wheel chair by 12 years - End stage cardiomegaly (20-30 years); Respiratory problems, too
Xeroderma Pigmentosum (XP) -
Autosomal Recessive Defects in ability to repair UV damage to DNA - XP Classic: mutation of endonuclease (excision repair) - XP Variant: mutation of DNA Polymerase n Increased sensitivity to sunlight (skin & eyes) & develops skin cancers.
Ataxia telangiectasia -
Sensitivity to Gamma Radiation -> Lymphomas Symptoms: Ataxia, dilation of blood vessels in skin & chromosome abberations
Fanconi’s Anemia -
Sensitivity to cross linking agents -> Leukemias Symptoms: Hypoplastic pancytopenia (gel like bone marrow) & congenital abnormalities. Examples: BRCA-1 & BRCA-2
Bloom’s Syndrome -
Sensitivity to UV -> Leukemias Symptoms: Facial butterfly pattern of melanomas & photosensitivity
Cockayne’s Syndrome -
Sensitivity to UV -> various cancers - Patients lack transcription helicase (DNA repair) - CBS gene is mutated - preventing transcription coupled repair Symptoms: Neurological effects & dwarfism
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) -
Associated with loss of DNA repair pathway Mutated genes are involved in mismatch repair 10% of colorectal cases
BRCA-1 & BRCA-2 -
Linked to hereditary breast cancers & Fanconi’s Anemia Genes are involved in recombination repair
Alpha-Amanitin -
Toxic compound from certain poisonous mushrooms that inhibit RNA synthesis by RNA Polymerase II
Fructosemia -
Deletions/mutations of Fructokinase or Aldolase B (hereditary) Patient cannot create glucose intermediate from fructose (fruit/honey)