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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

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