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240 Cards in this Set

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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