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