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Goljan HY Extras
| Question | Answer |
|---|---|
| T cells | 60-70% total lymphocyte count; ↓ AIDS, DiGeorge, adenine deaminase deficiency |
| B cells | 10-20% total lymphocyte count; ↓ Bruton’s, adenine deaminase deficiency |
| Antigen presenting cells | B cells, macrophages, dendritic cells |
| Langerhan’s cells | antigen presenting cell in skin |
| Major histocompatibility complex | chromosome 6; HLA genes for self-identity |
| Class I proteins | recognized by CD8 T cells and NK cells |
| Class II proteins | recognized by CD4 TH cells |
| Type I reactions | IgE antibodies; mast cells; wheal and flare with bee sting |
| Type II reactions | antibody-mediated; Goodpasture’s syndrome, rheumatic fever |
| Type III reactions | immune complex-mediated; SLE glomerulonephritis |
| Type IV reactions | cellular immunity; granuloma, positive PPD |
| Delayed reaction hypersensitivity reactions | CD4 TH cells and macrophages |
| Cytotoxic reactions | CD8 T cells; killing viral infected cells and neoplastic cells |
| Graft viability | ABO compatibility most important; HLA match |
| Fetus | allograft that is not rejected |
| Hyperacute rejection | type II hypersensitivity; ABO incompatibility or anti-HLA antibodies |
| Acute rejection | predominately cell-mediated reaction; MC rejection |
| Graft vs. host reaction | jaundice, rash, bloody diarrhea |
| IgA immunodeficiency | MC hereditary immunodeficiency; giardiasis, allergies |
| Bruton’s agammaglobulinemia | XR; pre B cannot develop into B cells; S. pneumoniae infections |
| DiGeorge syndrome | failure 3rd/4th pharyngeal pouches to develop; T cell deficiency; absent thymus |
| S/S DiGeorge syndrome | absent thymic shadow; Candida, Pneumocystis infections; hypoparathyroidism |
| Adenine deaminase deficiency | AR; combined B and T cell deficiency; gene therapy |
| Wiskott Aldrich syndrome | XR; combined B and T cell deficiency; eczema, thrombocytopenia |
| AIDS | MC acquired immunodeficiency HIV |
| HIV transmission | MC sexually-transmitted; anal intercourse in homosexuals MCC |
| HIV transmission in health care workers | accidental needle stick from HIV positive patient |
| Follicular dendritic cell | reservoir for HIV in lymph nodes in latent phase |
| AIDS | HIV positive plus CD4, TH cell ≤200 cells/μL or AIDS-defining condition |
| Pneumocystis carinii pneumonia | MC AIDS-defining disorder |
| Screening test for HIV | ELISA test; detects anti-gp120 |
| Confirmatory test for HIV | Western blot |
| HIV test with two peaks | p24 antigen; positive prior to seroconversion and when AIDS is diagnosed |
| MC cancer in AIDS | Kaposi sarcoma |
| MC infections CD4 TH <100 cells/μL | CMV, toxoplasmosis, M. avium-intracellulare |
| Hereditary angioedema | deficiency C1 esterase inhibitor; ↓ C2, C4, normal C3 |
| Osmosis | H2O shift between ECF and ICF; controlled by serum Na+ and glucose |
| Serum Na+ ~ TBNa+/TBW | decreased TBNa+ dehydration; increased TBNa+ pitting edema |
| Isotonic loss | serum Na+ normal; adult diarrhea, loss whole blood; Rx with 0.9% saline |
| Isotonic gain | serum Na+ normal; Rx with salt and H2O restriction |
| Hyponatremia | ICF expanded; central pontine myelinolysis with rapid IV correction |
| Hyponatremia hypotonic gain pure water | inappropriate ADH syndrome |
| Hyponatremia hypotonic gain TBNa+ and TBW | pitting edema; cirrhosis, RHF |
| Hyponatremia hypertonic loss TBNa+ | dehydration; loop diuretic, Addison’s, 11-hydroxylase deficiency |
| Hypertonic state | hypernatremia or hyperglycemia; ICF contraction |
| Hypernatremia hypertonic gain TBNa+ | pitting edema; sodium bicarbonate |
| Hypernatremia hypotonic loss water | diabetes insipidus |
| Hypernatremia hypotonic loss TBNa+ and TBW | osmotic diuresis, sweat, baby diarrhea |
| Acidosis | potential for hyperkalemia (shift out of ICF) |
| Alkalosis | potential for hypokalemia (shift into ICF) |
| Hypokalemia | loop and thiazide diuretics MCC; alkalosis, albuterol/insulin; U wave |
| Hyperkalemia | renal failure MCC; acidosis, ß-blocker, digitalis toxicity; peaked T wave |
| Rx hyperkalemia | calcium gluconate → insulin with glucose → loop diuretic |
| Respiratory acidosis | PaCO2 >45 mm Hg; compensation metabolic alkalosis |
| Respiratory acidosis | chronic bronchitis, ARDS, barbiturate poisoning, paralysis diaphragms |
| Respiratory alkalosis | PaCO2 <33 mm Hg; compensation metabolic acidosis |
| Respiratory alkalosis | pulmonary embolus, anxiety, early bronchial asthma, restrictive lung disease |
| Metabolic alkalosis | HCO3- >28 mEq/L; compensation respiratory acidosis |
| Metabolic alkalosis | loop/thiazide diuretics, vomiting, primary aldosteronism |
| Metabolic acidosis | HCO3- <2 mEq/L; compensation respiratory alkalosis |
| ↑ AG metabolic acidosis | add anions of acid to extracellular fluid |
| ↑ AG metabolic acidosis | lactate, AcAc, ß-OHB, salicylate, oxalate (ethylene glycol), formate (methyl alcohol), phosphate/sulfate (renal failure) |
| Ethylene glycol, methyl alcohol | compete with alcohol for alcohol dehydrogenase |
| Ethylene glycol poisoning | antifreeze; converted to oxalic acid; renal failure |
| Methyl alcohol poisoning | window wiper fluid; converted to formic acid; blindness |
| Normal AG metabolic acidosis | lose HCO3-; e.g., diarrhea, proximal/distal renal tubular acidosis |
| AFP | increased in open neural tube defects; decreased in Down syndrome |
| PCR | uses DNA polymerase |
| Barr body | inactive X chromosome on nuclear membrane; 1 Barr body in females |
| Missense mutation | point mutation with different amino acid; sickle cell trait/disease, Marfan |
| Nonsense mutation | point mutation producing stop codon; ß-thalassemia major |
| Frameshift mutation | insertion or deletion nucleotides alters reading frame; Tay-Sachs |
| Trinucleotide repeat | disease worse in future generations (anticipation) |
| Trinucleotide repeat disorders | fragile X (XR), Huntington’s (AD), myotonic dystrophy (AD) |
| Nondisjunction | meiosis; unequal numbers of chromosomes |
| Robertsonian translocation | Down syndrome with 46 chromosomes |
| Microdeletion syndrome | genomic imprinting; chromosome 15 |
| Paternal microdeletion | Prader-Willi; obese, mental retardation |
| Maternal microdeletion | Angelman’s syndrome; happy puppy syndrome, mental retardation |
| Advanced maternal age | increased risk for trisomies |
| Down syndrome | trisomy 21; leading cause mental retardation |
| S/S | slanted eyes; simian crease; endocardial cushion defect; Alzheimer’s |
| Turner’s syndrome | XO; no Barr bodies; short stature and primary amenorrhea; streak ovaries |
| Klinefelter’s syndrome | XXY; 1 Barr body; female secondary sex characteristics |
| AR | homozygous (aa) for disease; heterozygotes (Aa) asymptomatic |
| AR | most inborn errors metabolism, sickle cell, cystic fibrosis, hemochromatosis, Wilson’s |
| AD | homozygote (aa) or heterozygote (Aa) express disease |
| AD | spherocytosis, Marfan's syndrome, neurofibromatosis, von Willebrand, familial polyposis, polycystic kidney |
| AD | delayed manifestation; penetrance; variable expressivity |
| XR | male transmits to all daughters; female carrier transmits to 50% of sons |
| XR | G6PD deficiency, Bruton, Lesch-Nyhan, testicular feminization, fragile X, hemophilia A/B |
| Fragile X | mental retardation; macroorchidism at puberty; trinucleotide repeat |
| Lesch Nyhan | XR; deficiency HGPRT; hyperuricemia; mental retardation |
| Multifactorial inheritance | gout, type 2 diabetes, essential hypertension |
| Mitochondrial DNA disorder | maternal transmission to all children; no paternal transmission |
| Y chromosome | determines genetic sex |
| Testosterone | develops seminal vesicles, epididymis, vas deferens |
| Dihydrotestosterone | develops prostate and male external genitalia |
| Male pseudohermaphrodite | genetic male; phenotypically female |
| Female pseudohermaphrodite | genetic female; phenotypically male |
| Testicular feminization | XR; deficient androgen receptors; MCC male pseudohermaphrodite |
| 21-Hydroxylase deficiency | ↑ 17 KS, ↓ 17 OH, lose salt, hypotension; female pseudohermaphrodite |
| 11-Hydroxylase deficiency | ↑ 17 KS, ↑ 17 OH, retain salt, hypertension; female pseudohermaphrodite |
| 17-Hydroxylase deficiency | ↓ 17 KS, ↓ 17 OH, retain salt, hypertension; male pseudohermaphrodite |
| Calculate prevalence | carrier rate 1:30; couples at risk |
| Calculate carrier rate | 1:3600; 3600 /4 = 900; √900) = 1:30 |
| Malformation | intrinsic problem with morphogenesis |
| HOX gene | involved in embryogenesis |
| Alcohol | MCC of malformations; mental retardation; atrial septal defect |
| Isotretinoin acid | craniofacial and cardiac defects |
| Female with cystic acne needs Rx with retinoic acid | do pregnancy test before placing female on drug |
| DES | problem with mullerian development; clear cell carcinoma of vagina |
| Thalidomide | limb abnormalities |
| Vertical transmission | transplacental (MC), delivery, breast feeding |
| Congenital CMV | MC congenital infection; periventricular calcification; culture urine |
| Congenital toxoplasmosis | basal ganglia calcification; blindness; avoid cat litter in pregnancy |
| Congenital rubella | sensorineural hearing loss (MC); cataracts |
| Congenital syphilis | transplacental after 5-6 months; saddle nose, rhagades, blindness, deformed teeth |
| Congenital herpes | contracted during delivery; encephalitis |
| Deformation | extrinsic problem in fetal development; oligohydramnios causing Potter’s facies |
| Tobacco | leading cause premature death and cancer in United States |
| Nicotine | most addictive substance; attaches to nicotinic cholinergic receptors |
| Tobacco induced cancers | lung, oropharynx, larynx, pancreas, kidney, bladder |
| Alcohol | CNS depressant (cortex, limbic system); legally drunk 80-100 mg/dL |
| Alcohol | induces SER hyperplasia; increases alcohol metabolism |
| Alcohol MCC of | folate/thiamine deficiency; sideroblastic anemia; liver fatty change; pancreatitis |
| Alcohol | hypoglycemia; lactic/ketoacidosis; ↑ triglyceride; AST>ALT; ↑ GGT |
| Ketoacidosis in alcoholic | ß-hydroxybutyric acid |
| Heroin | poppy plant; non-cardiogenic pulmonary edema; focal segmental glomerulosclerosis |
| MPTP | meperidine derivative; produces parkinsonism |
| Cocaine | blocks uptake of dopamine/norepinephrine; mydriasis; AMI, CNS infarction |
| Marijuana | tetrahydrocannabinol (THC) binds basal ganglia receptors; delayed reaction time; red conjunctiva |
| Intravenous drug abuse | HBV hepatitis MC systemic disease |
| Acetaminophen toxicity | damage by FR acetaminophen; liver cell necrosis; renal papillary necrosis |
| Rx acetaminophen toxicity | N-acetylcysteine (increases synthesis of glutathione) |
| Salicylate toxicity | metabolic acidosis + respiratory alkalosis; hyperthermia; tinnitus, vertigo |
| Estrogen risks | thromboembolism; cholestasis; endometrial/breast cancer |
| Oral contraceptives | cholestasis, thrombosis, folate deficiency, hypertension, hepatic adenoma |
| Hemolytic anemia | penicillin, methyldopa, quinidine |
| Aplastic anemia | benzene, chloramphenicol |
| Qualitative platelet dysfunction | NSAIDs |
| Thrombocytopenia | heparin, quinidine |
| Macrocytic anemia | methotrexate, 5-fluorouracil, phenytoin, OC, alcohol |
| Congestive cardiomyopathy | doxorubicin, daunorubicin |
| Interstitial fibrosis | bleomycin, methotrexate |
| Hemorrhagic gastritis | iron toxicity, NSAIDs |
| Liver necrosis | acetaminophen, isoniazid, salicylates, halothane, isotretinoin acid |
| Cholestasis | anabolic steroids, OC |
| Fatty change in liver | amiodarone, tetracycline, alcohol |
| Photosensitive rash | tetracycline |
| SLE | procainamide, hydralazine |
| Isopropyl alcohol | ↑ acetone; CNS dysfunction |
| Lead | microcytic anemia, nephrotoxic ATN (proximal tubule), gout, encephalopathy, neuropathy |
| Mercury | fish (tuna, salmon); nephrotoxic ATN; constricted visual fields |
| Organophosphates | blocks acetylcholine esterase; miosis; paralysis; Rx. atropine, pralidoxime |
| Polyvinyl chloride | plastic pipes; angiosarcoma of liver |
| Scorpion sting | paralysis, hypertension, pancreatitis |
| Crotaline bite | rattlesnakes, water moccasin, copperhead; DIC; serum sickness |
| Coral snake bite | neurotoxin; binds to presynaptic nerve terminals and acetylcholine receptors |
| Contact gunshot wound | soot + gunpowder (fouling) |
| Intermediate gunshot wound | powder tattooing |
| Distant gunshot wound | no powder tattooing; exit wound larger than entrance |
| Motor vehicle accidents | leading cause accidental death between 1-39 yrs of age |
| Burns | Pseudomonas aeruginosa sepsis MC COD |
| First degree burn | painful; complete healing |
| Second degree burn | painful; blister; complete healing |
| Third degree burn | painless; scarring |
| Frostbite | painless; ice crystallization in cells |
| Electrical injury | AC worse than DC; decreasing resistance (wet skin) increases current |
| House fires | carbon monoxide and cyanide poisoning |
| Heat exhaustion | fever and sweating |
| Heat stroke | fever and anhydrosis |
| Near drowning | survival following asphyxia due to submersion |
| Wet drowning | initial laryngospasm then relaxation and water into lungs |
| Dry drowning | intense laryngospasm without aspiration |
| Cold water drowning | shunts blood from periphery to central core |
| Drowning | hypoxemia key COD |
| Acute mountain sickness | headache MC; non-cardiogenic pulmonary edema (immediate descent) |
| High altitude | normal %O2; decreased barometric pressure; respiratory alkalosis; ↑ 2, 3 BPG |
| Ionizing radiation | DNA most susceptible protein |
| Ionizing radiation | lymphoid tissue most radiosensitive; bone least radiosensitive |
| Ionizing radiation cancers | leukemia (most common); thyroid cancer; osteogenic sarcoma |
| UVB-related cancers | basal cell carcinoma (most common); squamous cancer; melanoma |
| Carbohydrates | digestion begins in mouth |
| Fats | digestion begins in small intestine |
| Essential fatty acid deficiency | dermatitis, hair loss, poor wound healing |
| Proteins | digestion begins in stomach |
| Kwashiorkor | ↓ protein intake; ↓ visceral protein; ↓ albumin (pitting edema); fatty liver |
| Marasmus | total calorie deprivation; ↓ somatic protein; broomstick extremities |
| Anorexia nervosa | starvation; secondary amenorrhea (↓ GnRH); osteoporosis; ventricular MC COD |
| Bulimia nervosa | binging with vomiting; hypokalemic metabolic alkalosis; ventricular MC COD |
| Body mass index (BMI) | weight in kg/height in m2 |
| Obesity | hypertension (MC), cholecystitis, osteoarthritis, type 2 DM, endometrial/breast cancer |
| Leptin | obesity gene product released from adipose; maintains energy balance |
| All-trans retinoic acid | Rx acute promyelocytic leukemia; matures blasts to neutrophils |
| Vitamin A | maintain visual purple, prevent squamous metaplasia, growth |
| Vitamin A deficiency | night blindness; blindness; squamous metaplasia |
| Vitamin A toxicity | ↑ intracerebral pressure; papilledema; hepatic necrosis |
| Vitamin D | maintain ionized Ca2+; mineralization of bone |
| Vitamin D metabolism | skin photoconversion or reabsorb in gut → 1st hydroxylation liver → 2nd hydroxylation proximal tubule (1-α-hydroxylase) Vitamin D deficiency |
| Causes | renal failure MCC; malabsorption; liver disease; ↓ sunlight |
| Lab | ↓ Ca2+, ↓ phosphate (malabsorption), ↑ phosphate renal failure, ↑ PTH |
| Hypervitaminosis D | ↑ Ca2+, renal stones |
| Vitamin E | prevents FR damage of cell membrane |
| Vitamin E deficiency | hemolytic anemia; posterior column/spinocerebellar tract degeneration |
| Vitamin E toxicity | ↓ synthesis vitamin K-dependent procoagulation factors; anticoagulated |
| Vitamin K | γ-carboxylates vitamin K-dependent factors |
| Vitamin K deficiency | ↓ epoxide reductase activity (↓ function vitamin K); hemorrhagic diathesis; ↑ PT |
| Warfarin | inhibits epoxide reductase |
| Causes vitamin K deficiency | antibiotics MC, newborn, malabsorption, warfarin |
| Thiamine functions | transketolase; dehydrogenase reactions (NADH for ATP synthesis) |
| Example of dehydrogenase reaction | pyruvate → acetyl CoA; pyruvate dehydrogenase |
| Thiamine deficiency | alcohol MCC; ↓ ATP synthesis |
| S/S | dry beriberi - Wernicke’s, Korsakoff’s, peripheral neuropathy; wet beriberi - cardiomyopathy |
| Niacin | oxidation-reduction reactions; NAD; NADP |
| Niacin deficiency | pellagra; dermatitis, diarrhea, dementia |
| Tryptophan | synthesis niacin, serotonin |
| Tryptophan deficiency | Hartnup’s disease (↓ reabsorption neutral amino acids); carcinoid syndrome |
| S/S niacin deficiency | diarrhea, dermatitis, dementia |
| Corn | deficient in niacin and tryptophan |
| Pyridoxine | heme synthesis, transamination, neurotransmitter synthesis |
| Cause | taking isoniazid |
| Pyridoxine (B6) deficiency | sideroblastic anemia; convulsions; peripheral neuropathy |
| Vitamin B12/folate | DNA maturation, odd chain fatty acid metabolism (propionyl CoA) |
| Vitamin B12/folate deficiency | macrocytic anemia |
| Biotin | carboxylase reactions (pyruvate → oxaloacetate) |
| Cause | eating raw eggs (avidin binds vitamin) |
| S/S | alopecia, dermatitis |
| Vitamin C | antioxidant, reduce ferric iron, hydroxylation proline/lysine, dopamine → norepinephrine |
| Vitamin C deficiency | scurvy; hemorrhagic diathesis; poor wound healing |
| Alkalotic state | lowers ionized Ca2+ producing tetany; total Ca2+ normal |
| Hypoalbuminemia | lowers total Ca2+; no tetany |
| Hypophosphatemia | decreased ATP; myoglobinuria |
| Hypomagnesemia | causes hypocalcemia by inhibiting PTH synthesis/release |
| Zinc deficiency | poor wound healing; dysgeusia (cannot taste); anosmia; perioral rash |
| Copper deficiency | iron deficiency; poor wound healing (cofactor lysyl oxidase); aortic dissection |
| Iodine deficiency | produces goiter and hypothyroidism |
| Chromium deficiency | glucose intolerance |
| Selenium | antioxidant that neutralizes peroxide |
| Fluoride deficiency | dental caries |
Created by:
megankirch
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