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Goljan HY Extras

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