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Flashcards in BC CC Deck (69)
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1

Scurvy -

Vitamin C Deficiency - Collagen synthesis is unable to proceed. Enzyme: Prolysl hydroxylase Clinical: Bleeding gums, subcutaneous hemorrhaging & poor wound healing.

2

Ehler Danlos IV -

Type III Collagen abnormalities Clinical: Rupturing of bowel arterties

3

Ehler Danlos VI -

Enzyme deficiency: Lysyl hydroxylase or Prolysal hydroxylase - No Type II Collagen production Clinical: Ocular rupture

4

Ehler Danlos VIIc -

Procollagen N-proteinase deficiency Clinical: Joint hypermobility

5

Alport Syndrome -

X linked & Autosomal Affects structure of collagen type IV in basement membrane of cells. Clinical: Hematuria & End Stage Renal Disease

6

William's Syndrome -

Deletion of Elastin gene - Affects connective tissue and CNS Clinical: Supravalvular aortic stenosis

7

Marfan's Syndrome -

Autosomal dominant mutation of fibrillin gene Clinical: Tall, long digits, hyper-extensibility of joints and ascending aorta (weakeness in aorta media).

8

Dipalmitoylphosphatidylcholine -

Major component of lung surfactant! Clinical: Respiratory distress syndrome in infants born premature.

9

Tay-Sachs Disease -

Beta-Hexosaminidase deficiency - Accumulation of GM2 Clinical: Rapid/Progressive neurodegeneration, blindness, cherry red macula, muscular weakness & seizures

10

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.

11

Graves Disease -

Autoimmune Disease - Antibodies against thyroid stimulating hormone (TSH) receptors

12

Myasthenia Gravis -

Autoimmune Disease - Antibodies against nicotinic acetylcholine receptors Clinical: Muscle weakness & fatigue

13

Marasmus -

Extreme wasting from prolonged negative energy balance. - Loss of protein from heart, kidney, liver & skeletal muscle. - Occurs in both children & adults

14

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.

15

Kussmaul Respirations -

Associated with difficulty expelling CO2

16

Muscular Dystrophy - Duchenne -

Dystrophin is absent (mutation on X chromosome). Diagnose: Creatine Kinase levels, muscle biopsy & dystrophin analysis (western blot). Treatment: Prednisone & PT

17

Muscular Dystrophy - Becker -

Dystrophin is severely reduced Diagnose: Creatine Kinase levels, muscle biopsy & dystrophin analysis (western blot). Treatment: Prednisone & PT

18

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

19

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.

20

Ataxia telangiectasia -

Sensitivity to Gamma Radiation -> Lymphomas Symptoms: Ataxia, dilation of blood vessels in skin & chromosome abberations

21

Fanconi's Anemia -

Sensitivity to cross linking agents -> Leukemias Symptoms: Hypoplastic pancytopenia (gel like bone marrow) & congenital abnormalities. Examples: BRCA-1 & BRCA-2

22

Bloom's Syndrome -

Sensitivity to UV -> Leukemias Symptoms: Facial butterfly pattern of melanomas & photosensitivity

23

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

24

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) -

Associated with loss of DNA repair pathway Mutated genes are involved in mismatch repair 10% of colorectal cases

25

BRCA-1 & BRCA-2 -

Linked to hereditary breast cancers & Fanconi's Anemia Genes are involved in recombination repair

26

Alpha-Amanitin -

Toxic compound from certain poisonous mushrooms that inhibit RNA synthesis by RNA Polymerase II

27

Fructosemia -

Deletions/mutations of Fructokinase or Aldolase B (hereditary) Patient cannot create glucose intermediate from fructose (fruit/honey)

28

Galactosemia -

Deletion/mutation of galatose-1-phos. uridyltransferase Patient cannot create G6P from galactose

29

BMI -

Weight/Height^2 For Adults: Underweight < 18 (May not be accurate.) Overweight = 25-29.9 Obese > 30

30

Basal Metabolic Rate (BMR) -

Energy needed to maintain basic functions at neutral environment & fasting. Proportionate to lean body mass and surface area. Hyperthyroidism = higher BMR with fever Hypothyroidism = lower BMR with starvation