Flashcards in BC CC Deck (69)
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).
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
Extreme wasting from prolonged negative energy balance. - Loss of protein from heart, kidney, liver & skeletal muscle. - Occurs in both children & adults
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
Toxic compound from certain poisonous mushrooms that inhibit RNA synthesis by RNA Polymerase II
Deletions/mutations of Fructokinase or Aldolase B (hereditary) Patient cannot create glucose intermediate from fructose (fruit/honey)
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.
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
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.