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Flashcards in BC CC Deck (69)
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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)


Galactosemia -

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



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


Resting Energy Expenditure (REE) -

65% of total energy expenditure - energy needed to maintain vital organ function in resting state. - Exercise can increase REE - REE is an estimate for BMR


Waist Circumfrence -

Men: Obese > 40" Women: Obese > 35"


Calories Needed? -

weight x time x factor Estimates Men: 1 kCal/hr/kg Women: .95 kCal/hr/kg


Growth Charts -

For Children Height, weight & head circumference Above 95th percentile = overweight Under 5th percentile = underweight


Anorexia Nervosa -

BMI below 17.5 & refusal to gain weight 2 Types: Restricting & Purging Symptoms: GI problems, Lanugo, dry skin, edema, hypothermia, bradycardia & dental.


Bulimia Nervosa -

2 Types: Purging & non-purging types Recurrent binge eating, sense of lack of control during an eating episode, normal/overweight BMI, possible dental signs.


Binge Eating Disorders -

Eating past the point of being uncomfortably full. Eats when not hungry, eats rapidly, eats alone, feels guilty after eating. Symptoms: 2x per week for 6 months


Refeeding Syndrome -

When body goes from starvation -> adequate nutrition. If unchecked can cause heart and respiratory problems, even death. Procedure: 1. Balance electrolytes (K, Mg, PO4, Ca & glucose) 2. Balance Fluids 3. Give 50-75% of calories - increase 10% everyday


Vitamin A: Deficiency -

Over keratinization of epithelium: Night Blindness (Retina) & dry skin (epidermis & mucous membranes). Increases susceptibility to infection, anemia and cancers.


Vitamin A: Toxicity -

Excess intake -> Accumulation in liver Symptoms: Pain in bones, scaly dermatitis, enlargement of liver & spleen, nausea & diarrhea.


Vitamin D: Deficiency -

Insufficient sun exposure -> Rickets (children) or Osteomalacia (adults) Rickets: bone softening & bowing, decrease in bone mineralization Osteomalacia: demineralization of existing bones, but osteoid matrix remains intact


Vitamin D: Toxicity -

Hypercalcemia Symptoms (children): mental retardation, abnormal bone growth, diarrhea, irritability, weight loss & severe depression. Symptoms (adults): anorexia, nausea, vomitting, polyuria, polydipsia, insomnia, weakness, nervousness, pruitis & renal failure.


Vitamin E: Deficiency -

Neurological problems with chronic deficiency When on polyunsaturated diet may increase risk of cancers


Vitamin E: Toxicity -

Acts as an anticoagulant and can increase the risk of bleeding problems LIFE THREATENING WHEN COMBINED WITH ASPRIN May cause vitamin K deficiency


Vitamin K: Deficiency -

Temporary when on antibiotics Could be caused by vitamin E toxicity - increasing coagulation time Malabsorption -> obstructive jaundice Most common in newborn infants who's mother is on anticonvulsant medication.


Thiamin Deficiency (B1) -

Dry Beri-Beri -> muscular dystrophy -> heart failure Wet Beri-Beri -> edema -> heart failure Symptoms: loss of appetite, constipation, nausea & depression/fatigue Alcoholism: Wernicki-Korsakoff syndrome -> heart failure


Riboflavin Deficiency (B2) -

Anemia*, scaly dermatitis & red tongue *Riboflavin is required for Iron mobilization


Niacin Deficiency (B3) -

Glossitis, Pellagra, dermatitis, diarrhea & dementia


Pyridoxine Deficiency (B6) -

Irritability, nervousness, depression & peripheral neuropathy. Convulsions in severe deficiency. Sideroblastic anemia. *Pyridoxine is essential for neurotransmitter synthesis & myelin formation


Folate Deficiency (B9) -

Inhibits DNA synthesis by decreasing availability of purines. Birth defects: Spine Abifida (neural tube) Adults: Increases colon & cervical cancer risks Alcoholism: Megablastic Anemia


Cobalamin Deficiency (B12) -

Pernicious anemia with neurological deterioration (caused by demyelination). Crohn's Disease association


Vitamin C: Toxicity -

Oxalate levels rise causing kidney stones


Calcium Deficiency -

Muscle cramps, loss of Ca from bones, increased BP & osteoporosis (loss of bone matrix).


Magnesium Deficiency -

Alcoholism - Weakness, tremors & heart arrhythmia


Iron Deficiency -

Anemia & decreases immunocompetence


Iron Toxicity -

Retinal degeneration (brain deposits), cirrhosis (liver) & diabetes mellitus (pancreas deposits). Hemochromatosis: genetic & acquired; Iron build up in heart, liver & endocrine tissues. Treatment? Blood letting (aka give blood)


Iodine Deficiency -

Goiter = enlargement of the thyroid gland. (Now fortified in salt.) Iodine is important in regulating BMR in adults & growth in children.


Zinc Deficiency -

Poor growth & sexual development in children. Poor wound healing & dermatitis Decrease in taste acuity & immune function (cytokines) Seen in alcoholics, renal disease & malabsorption


Copper Deficiency -

Anemia, hypercholesterolemia, leukopenia, fragile arteries, demyelination of nervous tissue & demineralization of bones. Menkes Disease: X linked - global copper deficiency Mutation of copper transporter from intestine to blood stream Symptoms: Mental and growth retardation, hypothermia, loose skin & joints, hypopigmentation & kinky hair.


Copper Toxicity -

Wilson's Disease: Autosomal recessive - copper overload (brain & liver) Mutation of copper transporter from brain/liver to waste. Symptoms of Liver: Cirrhosis, chronic hepatitis & liver failure Symptoms of Brain: parkinsonian symptoms, seizures & psychiatric symptoms. Kayser-Fliescher Ring around cornea.


Chromium Deficiency -

Impairs glucose tolerance, because insulin loses its effectiveness. *A helpful supplement for Type II diabetics


Werner's Syndrome -

DNA Helicase Mutation Symptoms: grey hair by 27 years, bilateral cataracts, osteoporosis (60%), death by late 40s.


Hutchinson-Gilford Progeria Syndrome -

Lamin A mutation - nuclear membrane Deficient DNA repair causes the loss of stem cells & induces senescence. Patient looks like an 80 year old. Death by 13 years of heart attack or stroke.


Metformin -

Anti-diabetic drug found to activate AMP kinase and extend lifespan in mice.


Fetal Alcohol Syndrome -

Pre and Postnatal growth retardation Facial abnormalities Mental Retardation (most prominent & preventable) Cause: Mother - Malabsorption, poor nutrition & ethanol/acetaldehyde toxins


Disulifram -

Used to be given to alcoholics to prevent them from drinking. Induces nausea and a killer hangover.


Alcoholism: Clinical Manifestations -

1. Ketoacidosis 2. Hypoglycemia 3. Hyperglycemia 4. Hyperuriemia & Gout 5. Liver Disease: Fatty liver -> alcoholic hepatitis ->cirrhosis 6. Anemia (75%)


Failure to Thrive -

Most prevalent of late life diseases Weight loss, decreased appetite, poor nutrition, inactivity, dehydration, depressive symptoms, impaired immunity & low cholesterol.


Most Common Nutrition Problems of the Elderly -

1. Over/Undernurished 2. Protein calorie malnutrition 3. Obesity (68% overweight; 30% obese)