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Goljan High Yield

PO2 driving force for diffusion of O2 into tissue
SaO2 percent heme groups occupied by O2
Cyanosis decreased O2 saturation (SaO2); O2 content
Oxygen electron acceptor in oxidative pathway
Hypoxia inadequate O2 leads to ATP depletion
Ischemia decreased arterial (or venous) blood flow
Respiratory acidosis retention of CO, always decreases PaO2
Ventilation defect impaired delivery of O2 to alveoli; intrapulmonary shunting of blood (e.g., RDS)
Perfusion defect absent blood flow to alveoli; increased alveolar dead space (e.g., pulmonary embolus)
Diffusion defect O2 cannot cross alveolar-capillary interface; interstitial lung disease (e.g., sarcoidosis)
Methemoglobin ↓ SaO2; heme Fe+3; oxidizing agents (sulfur/nitro drugs); Rx with IV methylene blue
Clinical methemoglobinemia cyanosis not corrected by O2; chocolate colored blood
Carbon monoxide ↓ SaO2; left-shift O2 binding curve; inhibits cytochrome oxidase
Causes carbon monoxide poisoning car exhaust, space heaters, smoke inhalation
S/S carbon monoxide poisoning headache; cherry red color skin
Cyanide inhibits cytochrome oxidase; systemic asphyxiant
Carbon monoxide + cyanide poisoning house fires
Left-shifted O2 curve ↓ 2, 3 BPG, carbon monoxide, alkalosis, HbF, methemoglobin, hypothermia
Right-shifted O2 curve ↑ 2, 3 BPG, high altitude, acidosis, fever
High altitude respiratory alkalosis enhances glycolysis; ↑ synthesis 2,3 BPG
Mitochondrial poisons damages membrane and drains off protons; alcohol, salicylates
Uncoupling agents in mitochondria drain off protons; dinitrophenol, thermogenin (brown fat)
Complication mitochondrial poisons/uncoupling agents hyperthermia
Decreased ATP impaired Na+/K+ ATPase pump (cellular swelling); reversible
Anaerobic glycolysis ATP synthesis in hypoxia; lactate ↓ intracellular pH, denatures proteins
Irreversible injury hypoxia membrane/mitochondrial damage
Mitochondrial damage release cytochrome c activates apoptosis
Irreversible injury hypoxia ↑ cytosolic Ca2+ activates phospholipase, proteases, endonuclease
Free radicals unpaired electron in outer orbit; damage cell membranes and DNA
Free radicals superoxide, hydroxyl, peroxide, drugs (acetaminophen)
Superoxide dismutase neutralizes superoxide
Glutathione neutralizes peroxide, drug FRs
Catalase neutralizes peroxide
Lipofuscin indigestible lipid of lipid peroxidation; brown pigment increased in atrophy and FR damage
Reperfusion injury in heart superoxide FRs + calcium
Mitochondrial injury cytochrome c in cytosol initiates apoptosis
SER hyperplasia alcohol, barbiturates, phenytoin
Complications SER hyperplasia increases drug metabolism (e.g., oral contraceptives); low vitamin D
Chediak-Higashi membrane protein defect in transferring lysosomal enzymes to phagocytic vacuoles
Chediak-Higashi AR; giant lysosomes
I cell disease absent enzyme marker in Golgi apparatus (mannose 6-phosphate); empty lysosomes
Rigor mortis stiff muscles after death due to ATP depletion
Fatty change in liver MCC alcohol (increase in NADH); DHAP → G3P → TG
Fatty change in liver VLDL pushes nucleus to side
Causes fatty change ↑ synthesis TG/FAs, beta-oxidation of FAs, synthesis apoproteins/release VLDL
Fatty change in kwashiorkor ↓ synthesis of apoproteins
Ferritin primary iron storage protein; soluble in blood; serum level reflects marrow storage iron
Hemosiderin insoluble ferritin degradation product visible with Prussian blue stain
Atrophy reduction in cell/tissue mass by either loss or cell shrinkage
Brain atrophy ischemia; Alzheimer’s
Exocrine gland atrophy in CF duct obstruction by thick secretions
Labile cells stem cells (skin, marrow, GI tract) →←→⇦
Stable cells in G0 phase (smooth muscle, hepatocytes); can enter cell cycle (growth factors, hormones)
Permanent cells cannot replicate; cardiac/striated muscle; neurons
Hypertrophy increase in cell size (structural components, DNA)
LVH increased preload (valve regurgitation), increased afterload (hypertension, aortic stenosis)
RVH pulmonary hypertension
Bladder smooth muscle hypertrophy prostate hyperplasia constricts urethra
Removal of kidney hypertrophy of remaining kidney
Hyperplasia increase in number of cells
Endometrial hyperplasia unopposed estrogen (obesity, taking estrogen)
RBC hyperplasia increased EPO (blood loss, ectopic secretion, high altitude)
Prostate hyperplasia increased dihydrotestosterone (DHEA)
Gynecomastia hyperplasia male breast tissue; normal in newborn, adolescent, elderly
Metaplasia one adult cell type replaces another cell type
Squamous metaplasia in bronchus smoking
Intestinal metaplasia in stomach Paneth cells, goblet cells; H pylori chronic atrophic gastritis
Squamous metaplasia bladder Schistosoma hematobium infection
Barrett’s esophagus glandular metaplasia of distal esophagus; due to GERD
Dysplasia atypical hyperplasia and metaplasia are precursors for cancer
Squamous dysplasia in cervix human papilloma virus
Squamous dysplasia in bronchus smoking
Necrosis death of groups of cells
Coagulation necrosis preservation of structural outline (due to ↑ lactic acid)
Infarction pale (e.g., heart, kidney); hemorrhagic (e.g., lung, small bowel); dry gangrene
Liquefactive necrosis brain infarct, bacterial infections; wet gangrene
Caseous necrosis variant coagulation necrosis; granulomas due to TB/systemic fungi
Granulomas activated macrophages (epithelioid cells); multinucleated giant cells; CD4 TH1 cells
Epithelioid cells γ-interferon released by CD4 T cells activates macrophages
Multinucleated giant cells fusion of epithelioid cells
Granulomas type IV hypersensitivity
Enzymatic fat necrosis associated with pancreatitis; soap formation (Ca2+ + fatty acids)
Fibrinoid necrosis necrosis of immune reactions (immune vasculitis/endocarditis)
Postmortem necrosis autolysis; no inflammatory reaction
Dystrophic calcification calcification of damaged tissue; normal serum calcium
Dystrophic calcification pancreatitis; atherosclerotic plaque
Metastatic calcification calcification of normal tissue; increased serum calcium or phosphorus
Nephrocalcinosis metastatic calcification of collecting tubule basement membranes
S/S nephrocalcinosis polyuria due to nephrogenic diabetes insipidus; renal failure
Apoptosis gene regulated individual cell death
Signals activating apoptosis mullerian inhibitory factor, tumor necrosis factor, hormone withdrawal
Signal modulators of apoptosis TP53 suppressor gene, BCL-2 genes
BCL-2 genes anti-apoptosis gene; prevents cytochrome c from leaving mitochondria
Caspases responsible for enzymatic cell death in apoptosis; proteases and endonucleases
Markers of apoptosis eosinophilic cytoplasm, pyknotic (ink dot) nucleus
Apoptosis loss Mullerian epithelium in male fetus; thymus involution; killing cancer cells
Histamine key chemical in acute inflammation; mast cell; arteriole vasodilation; ↑ venular permeability
Rubor acute inflammation redness; arteriole vasodilation (histamine)
Calor acute inflammation heat; arteriole vasodilation (histamine)
Tumor acute inflammation swelling; ↑ vessel permeability (histamine)
Dolor acute inflammation pain; bradykinin, PGE
Acute inflammation neutrophil dominant; ↑ IgM
Initial vessel events transient vasoconstriction → arteriolar vasodilation → ↑ venular permeability
Neutrophil rolling acute inflammation due to selectins
Integrins neutrophil adhesion molecules; C5a and leukotriene B, activate; neutrophil margination
CD11/CD18 markers for integrins
Endothelial cell adhesion molecules activated by IL-1 and TNF
ICAM intercellular adhesion molecule
VCAM vascular cell adhesion molecule Leukocyte adhesion molecule defect
Activation neutrophil adhesion molecules neutrophilic leukocytosis; corticosteroids
Activation neutrophil adhesion molecules neutropenia; endotoxins
Chemotaxis directed movement; C5a and LTB4
Opsonizing agents IgG, C3b; enhance phagocytosis
Neutrophils, monocytes, macrophages receptors for IgG, C3b
O2-dependent MPO system most potent microbicidal system; neutrophils, monocytes
ProductionofsuperoxidefromO2 NADPH oxidase with NADPH cofactor; produces respiratory burst
Nitro blue tetrazolium (NBT) test for respiratory burst
Superoxide dismutase converts superoxide to peroxide
Myeloperoxidase lysosomal enzyme that combines peroxide + Cl to form bleach (HOCl)
Microbicidal defects chronic granulomatous disease childhood (XR), myeloperoxidase deficiency (AR)
Chronic granulomatous disease absent NADPH oxidase; no respiratory burst
Chronic granulomatous disease Staphylococcus aureus not killed (catalase positive)
Chronic granulomatous disease Streptococcus killed (catalase negative)
Myeloperoxidase deficiency AR; respiratory burst present; no bleach produced
Opsonization defect Bruton’s agammaglobulinemia (XR, decreased IgG)
Phagocytosis defect Chediak-Higashi (see cell injury); also has defect in microtubule polymerization
COX inhibitors non-steroidals (non-selective), selective COX-2 inhibitors
PGE2 vasodilation, fever
PGI2 vasodilator; prevent platelet aggregation
Nitric oxide vasodilator; FR gas from conversion arginine to citrulline
IL-1 and TNF fever, synthesis acute phase reactants in liver, leukocytosis
IL-6 stimulated by IL-1; stimulates synthesis of acute phase reactants
Acute phase reactants fibrinogen, ferritin, C-reactive protein
Bradykinin kinin produced in conversion of factor XII to factor XI
Bradykinin pain, vasodilator, vessel permeability; cough/angioedema, ACE inhibitors
Anaphylatoxins C3a and C5a; directly stimulate mast cell release of histamine
Prostaglandin I2 synthesized by endothelial cells; vasodilator, inhibits platelet aggregation
Lipoxygenase hydroxylation of arachidonic acid
Zileuton inhibits lipoxygenase
Zafirlukast, montelukast block lipoxygenase receptor
LTC4, -D4, -E4 bronchoconstrictors
TXA2 synthesized by platelets; platelet aggregation, vasoconstriction, bronchoconstriction
Dipyridamole inhibits thromboxane synthase
Corticosteroids inhibits phospholipase A2, activation neutrophil adhesion molecules
Corticosteroids neutrophilic leukocytosis, lymphopenia, eosinopenia
Fever right shift OBC; hostile to bacterial/viral replication
Chronic inflammation monocyte/macrophage; ↑ IgG; repair by fibrosis
Granuloma cellular immunity; macrophages interact with TH1 class cells (memory cells)
Positive PPD Langerhan’s cells process PPD and interact with TH1 class cells
Suppurative inflammation abscess; Staphylococcus aureus (coagulase)
Cellulitis subcutaneous inflammation; Streptococcus pyogenes (hyaluronidase)
Pseudomembranous inflammation toxins from Corynebacterium diphtheriae, Clostridium difficile
Cell cycle key checkpoint G1 to S phase
TP53 and RB suppressor genes arrests cell in G1 phase for DNA repair or apoptosis
BAX gene stimulates apoptosis; activated by TP53 suppressor gene if too much DNA damage
Extracellular matrix basement membrane, interstitial matrix
Complete restoration cell must be capable of duplication, no damage to basement membrane
Scar tissue end-product of repair by connective tissue
Collagen triple helix of cross-linked α chains
Collagen cross-links at points of hydroxylation (lysyl oxidase) increase tensile strength
Type I collagen bones, tendons
Type II collagen early wound repair
Type IV collagen basement membrane
Type X collagen epiphyseal plate
Laminin key basement membrane glycoprotein
Fibronectin key interstitial matrix glycoprotein
Angiogenesis in repair basic fibroblast growth factor, vascular endothelial growth factor
Key event in wound repair granulation tissue formation; fibronectin responsible
Granulation tissue becomes scar tissue
Collagenases zinc cofactor (metalloprotease); type III collagen replaced by type I collagen
Tensile strength of healed wound 80% original strength
Inhibition wound healing infection (MCC S. aureus), zinc deficiency, DM
Ehlers-Danlos syndrome defects in collagen synthesis and structure; hyperelasticity
Scurvy ↓ collagen tensile strength by decreasing cross-links at points of hydroxylation
Keloid excessive type III collagen; common in blacks
Pyogenic granuloma exuberant granulation tissue; bleeds when touched
Healing by primary intention clean wound; appose wound margins with suture
Healing by secondary intention infected wound; leave wound open; myofibroblasts important
Liver injury regenerative nodules; abnormal cytoarchitecture
Lung injury type II pneumocyte repair cell
CNS injury astrocyte and microglial cell repair cells; gliosis
WBC alterations in acute inflammation neutrophilic leukocytosis, left shift, toxic granulation
Erythrocyte sedimentation rate increased fibrinogen enhances rouleaux
C-reactive protein indicator of acute inflammation and inflammatory atheromatous plaque
Polyclonal gammopathy diffuse ↑ of γ-globulins; ↑ IgG; chronic inflammation
Total body water ECF (plasma, interstitial fluid) + ICF (cytosol)
Osmosis H20 shift between ECF and ICF; controlled by serum Na+ and glucose
Edema increased fluid in interstitial space or body cavities; transudate, exudate, lymph
Transudate protein and cell-poor fluid in interstitial space/body cavity; alteration Starling’s forces
Starling’s forces oncotic pressure (albumin) keeps fluid in vessels, hydrostatic pressure pushes fluid out
Pitting edema decreased oncotic pressure and/or increased hydrostatic pressure
↑ Hydrostatic pressure pulmonary edema in LHF; pitting edema of legs in RHF; portal hypertension
Renal retention sodium and water ↑ hydrostatic pressure and ↓ oncotic pressure
Causes of renal retention of sodium/water ↓ cardiac output (activation RAA system), primary renal disease
↓ Oncotic pressure (hypoalbuminemia) kwashiorkor; nephrotic syndrome; cirrhosis
Ascites in cirrhosis ↓ oncotic pressure, ↑ hydrostatic pressure
Exudate protein and cell rich (pus); acute inflammation with ↑ vessel permeability
Lymphedema radical mastectomy; filariasis; inflammatory carcinoma (lymphatics plugged by tumor)
Thrombus endothelial injury, stasis, hypercoagulability
Venous thrombus fibrin clot with entrapped RBCs, WBCs, platelets; deep veins below knee (stasis)
Heparin/warfarin anticoagulants that prevent venous clot formation
Arterial thrombus endothelial injury; platelets held together by fibrin
Aspirin prevents platelet thrombus in arteries
Pulmonary thromboembolism femoral vein site of origin
Systemic thromboembolism majority from left heart
Fat embolus long bone fractures; delayed symptoms (48 hrs); thrombocytopenia, hypoxemia
Amniotic fluid embolism DIC; lanugo hair in maternal pulmonary arteries
Diving 1 atmosphere pressure increase with 33 foot descent into water; N2 gas dissolved in tissue
Decompression sickness release of N2 gas from tissue with rapid ascent; ischemic damage
Dyspnea, chest pain underwater pulmonary embolus
Dyspnea, chest pain rising to surface spontaneous pneumothorax
Hypovolemic shock (blood loss) ↓ CO and LVEDP; ↑ PVR
Cardiogenic shock ↓ CO; ↑ LVEDP and PVR
Septic shock ↑ CO (↑ venous return); ↓ PVR (vasodilation)
Kidneys most susceptible organ in shock; straight portion proximal tubule most susceptible
Shock complications ischemic ATN, multiorgan failure, ↑ AG metabolic acidosis
Tumors parenchyma neoplastic component
Benign tumors epithelial (e.g., adenoma) or connective tissue (e.g., lipoma, leiomyoma)
Carcinoma epithelial origin; squamous cell carcinoma, adenocarcinoma, transitional cell carcinoma
Basal cell carcinoma invades but does not metastasize
Squamous cell carcinoma lower lip, oral pharynx, larynx, lung, esophagus, skin, cervix
Adenocarcinoma distal esophagus → colon, kidney, liver, pancreas, prostate, breast, lung, endometrium
Transitional cell carcinoma renal pelvis, ureter, bladder
Sarcoma malignancy of connective tissue origin; e.g., osteogenic sarcoma (bone)
Liposarcoma MC sarcoma in adults
Embryonal rhabdomyosarcoma MC sarcoma in children
Teratoma ectoderm, endoderm, mesoderm derivatives; bone/teeth visible on x-ray
Hamartoma normal tissue, normal site; bronchial hamartoma, Peutz Jeghers polyp
Choristoma normal tissue aberrant tissue location; pancreatic tissue stomach wall
Mixed tumor different morphologic patterns, same germ cell layer; pleomorphic adenoma parotid
Leukemia malignancy of stem cells in bone marrow
Lymphoma malignancy of lymph nodes
Extranodal lymphoma sites stomach (MC), Peyer’s patches
Malignant tumors invade and metastasize; benign tumors do not
Upregulate telomerase increases telomere length; found in all neoplastic cells
Monoclonality key finding in neoplastic vs. normal cells
E-Cadherin intercellular adhesion; lose adhesion in malignant cells
Malignant cells receptors for laminin (basement membrane), fibronectin (ECM)
Invasion enzyme type IV collagenase (basement membrane)
Angiogenesis basic fibroblast growth factor, vascular endothelium growth factor
Metastasis lymphatic, hematogenous, seeding; often more common than primary cancer
Carcinoma lymph node -> hematogenous
Vessel invading carcinomas renal cell carcinoma (renal vein, vena cava), hepatocellular carcinoma
Sarcoma hematogenous
Seeding ovarian cancer, periphery lung, CNS via spinal fluid
Sites where metastasis more common primary cancer lung, bone, brain, liver, adrenal
Sites where primary cancer more common than metastasis GI tract, kidney, urogenital
Bone metastasis osteoblastic (radiodense); osteolytic (radiolucent)
Bone sites metastasis vertebra MC (Batson venous plexus)
Osteoblastic metastasis prostate cancer; increased serum AP, hypercalcemia
Osteolytic metastasis breast cancer
EM neurosecretory granules carcinoid tumors, small cell carcinoma, neuroblastoma
EM thin and thick myofilaments rhabdomyosarcoma
EM Birbeck granules histocytic neoplasms (Langerhan’s histiocytosis)
Primary prevention stop smoking; sun screen; high fiber diet
Cancers in children leukemia (MC), CNS tumors, Burkitt’s, Ewing’s, neuroblastoma
Cancer vaccine hepatitis B vaccine; prevents hepatocellular carcinoma
Cancer incidence men prostate → lung → colorectal
Cancer incidence women breast → lung → colorectal
Cancer mortality men lung → prostate → colorectal
Cancer mortality women lung → breast → colorectal
Gynecologic cancers endometrium → ovary → cervix
Cervical Pap smear decreased incidence of cervical cancer; detects cervical dysplasia
Malignant melanoma fastest increasing in world
Southeast China nasopharyngeal carcinoma (EBV)
Southeast Asia hepatocellular carcinoma (HBV + aflatoxin)
Japan stomach cancer
Africa Burkitt’s lymphoma, Kaposi sarcoma (HHV-8)
Squamous dysplasia oropharynx, larynx, bronchus, cervix risk for squamous cell carcinoma (SCC)
Chronic irritation sinus orifices, third degree burn scars risk for SCC
Actinic (solar) keratosis risk factor for SCC
Glandular metaplasia of esophagus (Barrett’s) risk factor for adenocarcinoma
Endometrial hyperplasia risk factor for adenocarcinoma
Glandular (intestinal) metaplasia of stomach (Helicobacter) risk factor for adenocarcinoma
Chronic ulcerative colitis risk factor for adenocarcinoma
Villous adenoma of rectum risk factor for adenocarcinoma
Tubular adenoma of colon risk factor for adenocarcinoma
Scar tissue in lung risk factor for adenocarcinoma
Regenerative nodules in cirrhosis risk factor for hepatocellular carcinoma
Complete hydatidiform mole risk factor for choriocarcinoma
Dysplastic mole MC risk factor for malignant melanoma
UVB light MC risk factor for BCC, SCC, melanoma
HHV-8 MC risk factor for Kaposi’s sarcoma
EBV MC risk factor for nasopharyngeal carcinoma
Polycyclic hydrocarbons MC risk factor for larynx (SCC), lung cancers
Asbestos MC risk factor for mesothelioma
Polycyclic hydrocarbons MC risk factor for oral cavity, mid-esophagus SCC
Barrett’s esophagus MC risk factor for distal esophagus adenocarcinoma
H. pylori MC risk factor for stomach adenocarcinoma and lymphoma
Tubular adenoma, villous adenoma MC risk factors for colon adenocarcinoma
HBV and HCV MC risk factors for hepatocellular carcinoma
Vinyl chloride MC risk factor for liver angiosarcoma
Gallstones, porcelain gallbladder MC risk factor for gallbladder adenocarcinoma
Polycyclic hydrocarbons MC risk factor for pancreas adenocarcinoma
Polycyclic hydrocarbons MC risk factor for renal cell carcinoma
Polycyclic hydrocarbons MC risk factor for urinary bladder
HPV + lack of circumcision MC risk factor for penis SCC
Age MC risk factor for prostate adenocarcinoma
Cryptorchid testis MC risk factor for seminoma
Age >50 with excess estrogen exposure MC risk factor for breast and endometrial carcinoma
HPV 16/18 MC risk factor for vulva, vagina, cervix SCC
DES MC risk factor for vagina/cervix clear cell carcinoma
Nulliparity MC risk factor for surface derived ovarian cancer
Complete mole MC risk factor for choriocarcinoma
Turner syndrome (XO) MC risk factor for dysgerminoma of ovary
Turner syndrome (XO/XY) gonadoblastoma of ovary
Ionizing radiation MC risk factor for papillary cancer of thyroid
Family history (MEN IIa/IIb) MC risk factor for medullary carcinoma thyroid
Hashimoto’s thyroiditis MC risk factor for malignant lymphoma thyroid
Ionizing radiation MC risk factor for osteogenic sarcoma
EBV MC risk factor for primary CNS lymphoma in AIDS and Burkitt’s lymphoma
Ionizing radiation MC risk factor for acute/chronic myelogenous leukemia
EBV MC risk factor for Burkitt’s lymphoma
HTLV-1 MC risk factor for T cell leukemia/lymphoma
Bacterial causes of cancer H. pylori (stomach adenocarcinoma and lymphoma)
Parasitic causes of cancer S. hematobium (SCC bladder), C. sinensis (cholangiocarcinoma)
Carcinogenesis mutations involving regulatory genes
Regulatory genes proto-oncogenes, suppressor genes, anti-apoptosis genes
Types mutations point mutation MC, translocation, amplification (↑ copies), overexpression (↑ activity)
Translocations Burkitt’s t(8;14); CML t(9;22); follicular lymphoma t( 14;18); APL leukemia t( 15;17)
Key cancer genes TP53 suppressor gene, RAS protooncogene
Point mutation inactivates suppressor genes (e.g., TP53), activates proto-oncogenes (e.g., RAS)
Amplification activates ERB-B2
Overexpression enhances activity of BCL-2
S/S POC function-growth factor synthesis; mutation-overexpression
ERB-B2 POC function growth factor receptor; activation bad prognostic sign for breast carcinoma
RAS POC function-GTP signal transduction; point mutation; 30% of all human cancer
ABL POC function-non-receptor tyrosine kinase activity; translocation (9;22) causing CML
MYC POC function nuclear transcription; translocation (8; 14) causing Burkitt’s lymphoma
Inactivation suppressor genes majority are point mutations; loss of suppression
Sporadic retinoblastoma two hit theory; two separate point mutations of RB suppressor gene on
AD retinoblastoma one hit theory; one already inactivated in germ cells
TP53 suppressor gene functions G,-S phase inhibition, DNA repair, activation BAX apoptosis gene
Inactivation TP 53 suppressor gene inactivation causes majority of human cancers
RB suppressor gene function G1-S phase inhibition
Inactivation RB suppressor gene retinoblastoma, osteogenic sarcoma
APC suppressor gene function prevents nuclear transcription by catenin
Inactivation APC suppressor gene familial polyposis (FAP)
BRCA1/2 suppressor genes function DNA repair Inactivation
BRCA 1/2 suppressor genes breast, ovarian cancers
BCL-2 function anti apoptosis gene (keeps cytochrome c in mitochondria)
BCL-2 gene t(14;18) translocation of heavy chain causes overexpression; follicular B cell lymphoma [think t(14;18) = t(l4;lB) for foLLicular B]
Xeroderma pigmentosum AR; defect in DNA repair enzymes; ↑ risk for UVB light cancers
Hereditary non-polyposis syndrome (HNPCC) AD; inactivation DNA mismatch genes; colorectal cancer
Chromosome instability syndromes AR; susceptibility to DNA damage; leukemias, lymphomas
Examples chromosome instability Bloom syndrome, ataxia telangiectasia, Wiskott-Aldrich syndrome
Carcinogens chemicals (MC), viruses, radiation, H. pylori, physical (squamous cancer in bum scar)
Polycyclic hydrocarbons key chemical carcinogen (cigarette smoke)
Aflatoxins produced from Aspergillus; hepatocellular carcinoma
Asbestos lung cancer, mesothelioma
Thorium dioxide hepatocellular carcinoma, cholangiocarcinoma
Aniline dyes transitional cell carcinoma
Vinyl chloride angiosarcoma of liver
Benzene leukemia
Cyclophosphamide transitional cell carcinoma of bladder
EBV Burkitt’s; CNS lymphoma (AIDS); Hodgkin’s mixed cellularity; nasopharyngeal carcinoma
HBV and HCV hepatocellular carcinoma
HPV cervical, penis, and anorectal squamous cancers
HHV-8 Kaposi sarcoma
UVB cancers basal cell carcinoma, squamous cell carcinoma, malignant melanoma
Key host defense cytotoxic CD8 T cells (type IV hypersensitivity)
Cachexia due to tumor necrosis factor-α
Most common anemia anemia chronic disease
Most common coagulopathy hypercoagulability
Most common COD in cancer gram negative infection
Acanthosis nigricans, seborrheic keratoses; possible markers for gastric adenocarcinoma
Clubbing possible marker for lung cancer
Non-bacterial thrombotic endocarditis mitral valve possible marker for pancreatic cancer
TNM staging metastasis more important than nodal involvement
AFP hepatocellular carcinoma, yolk sac tumors
PSA prostate cancer
CEA recurrence colorectal cancer
BJ (Bence-Jones) protein multiple myeloma
β-human chorionic gonadotropin choriocarcinoma
Calcitonin medullary carcinoma thyroid; hypocalcemia
Small cell carcinoma lung ADH (hyponatremia), ACTH (ectopic Cushing’s)
Renal cell carcinoma EPO (polycythemia), PTH-related peptide (hypercalcemia)
Hepatocellular carcinoma EPO (polycythemia), insulin-like factor (hypoglycemia)
Medullary carcinoma of thyroid calcitonin (hypocalcemia), ACTH (ectopic Cushing’s)
Squamous cell carcinoma of lung PTH-related peptide (hypercalcemia)
Erythropoietin synthesized in peritubular capillaries
Reticulocyte count measure of effective erythropoiesis; correct for degree of anemia
Extramedullary hematopoiesis hematopoiesis outside bone marrow (e.g., spleen)
Newborn physiologic anemia drop in Hb due to replacement of HbF RBCs with HbA
Pregnancy Hb and Hct decreased; greater increase in plasma volume than RBC mass
Anemia normal O2 saturation and arterial PO2
MCV average volume of RBCs; useful for anemia classification
MCHC average Hb concentration in RBCs
MCHC ↓ in microcytic anemias; ↑ in spherocytosis
Thalassemias ↓ MCV, ↑ RBC count
RDW RBC size variation; ↑ iron deficiency; normal in other microcytic anemias
Mature RBC anaerobic glycolysis; no mitochondria or HLA antigens
Total iron binding capacity ↑ iron deficiency; ↓ anemia chronic disease, sideroblastic anemia
% Saturation ↓ iron deficiency, anemia chronic disease; ↑ sideroblastic anemia
Serum ferritin ↓ iron deficiency; ↑ anemia chronic disease, sideroblastic anemia; normal thalassemia
Microcytic anemias iron deficiency MC, anemic chronic disease, thalassemia, sideroblastic anemia
Iron deficiency child MCC Meckel’s diverticulum
Iron deficiency woman < 50 MCC menorrhagia
Iron deficiency man < 50 MCC peptic ulcer disease
Iron deficiency men/woman > 50 MCC colon cancer
Stages iron deficiency ↓ ferritin; ↓ Fe and % saturation, ↑ TIBC; normocytic then microcytic anemia
Anemia chronic disease MC anemia in malignancy and alcoholics
α-Thalassemia trait AR; two α-globin gene deletions; normal Hb electrophoresis
HbH disease three α-globin gene deletions; hemolytic anemia; four β-globin chains
Hb Bart’s disease four α-globin gene deletions; four γ-globin chains
β-Thalassemia minor AR; DNA splicing defect; ↑ HbA2 and F; ↓ HbA
β-Thalassemia major nonsense mutation with stop codon; hemolytic anemia; ↑↑ HbF, ↑ HbA2
Sideroblastic anemia defect in mitochondrial heme synthesis producing ringed sideroblasts
Causes sideroblastic anemia alcohol, pyridoxine deficiency (isoniazid Rx of TB), Pb poisoning
Pb poisoning inhibition ferrochelatase, d-aminolevulinic acid dehydrase, ribonuclease
S/S Pb poisoning children growth retardation; Pb in epiphyses (lead lines); abdominal colic; encephalopathy
S/S Pb poisoning adult peripheral neuropathy; proximal renal tubule damage (Fanconi’s syndrome)
Lab Pb poisoning coarse basophilic stippling RBCs; ↓ MCV; ↑ blood Pb; ↑ d-aminolevulinic acid
Vitamin B12 animal products; requires intrinsic factor for reabsorption in terminal ileum
Vitamin B12 transfers methyl group to homocysteine
R factor binds with B12 in mouth, removed by pancreatic enzymes in small intestine
Vitamin B12 involved in propionate metabolism; end-product succinyl CoA
Causes B12 deficiency vegan, pernicious anemia MC, fish tapeworm, pancreatitis, bacterial overgrowth, Crohn’s disease
Pernicious anemia autoimmune destruction parietal cells; chronic gastritis body/fundus; achlorhydria; ↑ gastrin
Causes folate deficiency alcohol MCC, poor diet, drugs, malabsorption, pregnancy, goat milk
Drugs and folate deficiency alcohol, OC, phenytoin, methotrexate, trimethoprim, 5-fluorouracil
Intestinal conjugase in folate metabolism inhibited by phenytoin
Jejunal uptake of monoglutamate form of folate inhibited by alcohol and OC
Dihydrofolate reductase inhibited by methotrexate, trimethoprim
Thymidylate synthetase inhibited by 5-fluorouracil
Folate deficiency MCC of increased serum homocysteine
Lab in B12/folate deficiency pancytopenia; hypersegmented neutrophils; ↑ homocysteine
Lab findings unique to B12 deficiency ↑ gastrin (pernicious anemia), ↑ methylmalonic acid
B12 reabsorbed absorbed after administration of intrinsic factor PA
B12 reabsorbed absorbed after administration of antibiotics bacterial overgrowth
B12 reabsorbed absorbed after administration of pancreatic extract chronic pancreatitis
Acute blood loss initially normal Hb and Hct; 0.9% saline uncovers RBC deficit
Aplastic anemia drugs (e.g., phenylbutazone); infection (e.g., parvovirus); benzene
Lab findings aplastic anemia pancytopenia; hypocellular bone marrow
Anemia in renal disease normocytic; decreased EPO
Extravascular hemolysis macrophage phagocytosis of RBCs; ↑ unconjugated bilirubin and urine UBG
Intravascular hemolysis ↓ serum haptoglobin; hemoglobinuria; hemosiderinuria
Congenital spherocytosis AD; defect in spectrin; extravascular hemolysis; splenomegaly
Blood findings in spherocytosis normocytic anemia; dense RBCs, ↑ MCHC, ↑ osmotic fragility
PNH missing decay accelerating factor; complement destruction RBCs, neutrophils, platelets
S/S PNH pancytopenia; hemoglobinuria; positive sugar water test and acidified serum test
HbSS AR; missense mutation (valine for glutamic acid 6th positive β-globin chain)
Causes of sickling ↑ deoxyhemoglobin (hypoxemia, acidosis); HbS > 60%
HbF inhibits sickling; hydroxyurea ↑ HbF
Pathophysiology HbSS vasoocclusive crises, hemolytic anemia (extravascular)
HbSS children dactylitis (6-9 months); Streptococcus pneumoniae sepsis (dysfunctional spleen)
HbSS osteomyelitis Salmonella paratyphi
HbSS complications aplastic crisis (parvovirus B-19), acute chest syndrome, autosplenectomy, calcium bilirubinate gallstones, priapism, aseptic necrosis
HbAS microhematuria from sickling in renal medulla; renal papillary necrosis
Hb electrophoresis HbAS-HbA 55-60%, HbS 40-45%; HbSS-HbS 90-95%, HbF 5-10%
Blood findings in HbSS sickle cells; target cells; Howell-Jolly bodies (nuclear remnants)
G6PD deficiency XR; oxidant damage (peroxide) to Hb (e.g., primaquine; dapsone; fava beans)
Blood findings G6PD deficiency Heinz bodies (denatured Hb; special stain); bite cells
Pyruvate kinase deficiency ↓ ATP; RBCs dehydrated; ↑ 2,3-BPG (right-shifted OBC)
Warm type AIHA IgG; extravascular hemolysis; e.g., SLE, drugs
Cold type AIHA IgM intravascular hemolysis; e.g., CLL, Mycoplasma
Penicillin IgG antibody against penicillin attached to RBC (type II hypersensitivity)
Methyldopa drug alters Rh antigens; IgG antibody against Rh antigens (type II hypersensitivity)
Quinidine drug-IgM IC; intravascular hemolysis; type III hypersensitivity
Lab findings AIHA positive direct Coombs’; spherocytes
Micro-macroangiopathic hemolysis mechanical damage causing intravascular hemolysis
Causes of micro/macro hemolysis aortic stenosis (MCC), DIC, TIP, HUS
Peripheral blood findings micro/macro hemolysis schistocytes; iron deficiency from hemoglobinuria
Malaria intravascular hemolysis correlates with fever; falciparum-ring forms and gametocytes
Leukemoid reaction exaggerated WBC response to infection; usually due to infection
Leukoerythroblastic reaction marrow infiltrative disease peripheralizes myeloblasts/nucleated RBCs
Causes of leukoerythroblastic reaction bone metastasis MCC, myelofibrosis
Eosinophilia type I hypersensitivity (e.g., penicillin reaction); invasive helminthic infection
Helminthes not producing eosinophilia pinworms, adult worms in ascariasis
Atypical lymphocytes mononucleosis; CMV; toxoplasmosis; viral hepatitis; phenytoin
Mononucleosis due to EBV; EBV attaches to CD21 receptors on B cells
Clinical findings mono exudative tonsillitis, generalized lymphadenopathy, hepatosplenomegaly
Lab findings mono atypical lymphocytosis; IgM heterophile antibodies against horse RBCs
Lymphopenia T cell deficiencies (HIV); combined B/T deficiency (adenine deaminase deficiency)
Lymphocytosis viral infections, whooping cough
Corticosteroids lymphopenia, eosinopenia, neutrophilia
Chronic MPD neoplastic stem cell disorder; splenomegaly; marrow fibrosis; risk for leukemia
Examples of MPD polycythemia vera, myelofibrosis and myeloid metaplasia
Relative polycythemia ↓ plasma volume; ↑ RBC count; normal RBC mass
Absolute polycythemia ↓ RBC count and RBC mass
Appropriate polycythemia hypoxic stimulus for EPO to generate RBCs
Causes of appropriate absolute polycythemia lung disease, cyanotic heart disease, high altitude
Appropriate absolute polycythemia normal plasma volume; ↑ RBC mass; ↓ SaO2; ↑ EPO
Inappropriate absolute polycythemia no hypoxic stimulus for EPO
Causes of inappropriate polycythemia ectopic secretion EPO, polycythemia vera
Polycythemia vera ↑ plasma volume and RBC mass; normal SaO2; ↓ EPO
Ectopic EPO (renal cell carcinoma) normal plasma volume; ↑ RBC mass; normal SaO2; ↑ EPO
Myelofibrosis myeloid metaplasia marrow fibrosis; extramedullary hematopoiesis; splenomegaly
Lab findings in myelofibrosis tear drop RBCs; dry bone marrow aspirate (marrow fibrosis)
Essential thrombocythemia MPO with increase in abnormal appearing platelets
Myelodysplastic syndrome severe anemia in elderly; 30% develop leukemia; ringed sideroblasts
Benzene aplastic anemia; acute leukemia
Leukemia by age ALL, newborn-14; AML, 15-60; CML, 40-60; CLL, >60
Acute vs. chronic leukemia acute, blasts >30% in bone marrow; chronic, blasts <10% in bone marrow
AML Auer rods in myeloblasts
Acute promyelocytic leukemia t(15;17); defect in retinoic acid; Rx retinoic acid (↑ maturation); DIC
Acute monocytic leukemia gum infiltration
CML t(9;22) of ABL POC; Philadelphia chromosome 22; ↓ alkaline phosphatase score
ALL early pre-B (80%); CALLA (CD10) and TdT positive; CNS and testicle involvement
ALL t(12;21) offers good prognosis
CLL B cell neoplasm; ↓ γ-globulins; MCC generalized lymphadenopathy patients> 60-yrs-old
Adult T cell leukemia HTLV-1; CD4 T cells; skin infiltration; lytic bone lesions with hypercalcemia
Hairy cell leukemia positive TRAP stain; splenomegaly; Rx with purine nucleosides
Nodal sites germinal follicles, B cells; paracortex, T cells; sinuses, histiocytes
Testicular cancer metastasizes to para-aortic nodes
Stomach cancer metastasizes to left supraclavicular nodes (Virchow node)
Phenytoin atypical lymphocytosis
Cat scratch disease Bartonella henselae; granulomatous microabscesses
Follicular B-cell lymphoma t(14;18); overexpression of BCL-2 anti-apoptosis gene
Burkitt lymphoma t(8;14); EBV association; common childhood NHL; “starry sky” appearance
Extra nodal lymphomas risk factors H. pylori (stomach); Sjogren’s syndrome
Mycosis fungoides CD4 T cell neoplasm; skin lesions with Pautrier’s microabscesses
Sezary syndrome leukemic phase of mycosis fungoides
Polyclonal gammopathy sign of chronic inflammation
Monoclonal gammopathy M component (spike); sign of plasma cell disorder
Confirmatory tests serum and urine immunoelectrophoresis; bone marrow aspirate
Bence Jones protein light chains in urine; predictive of a malignant plasma cell disorder
Multiple myeloma M spike; lytic bone lesions; pathologic fractures; hypercalcemia; renal failure
MGUS MC monoclonal gammopathy; may progress to myeloma
Findings in MGUS elderly patient; no BJ protein; no malignant plasma cells
Waldenstrom’s macroglobulinemia lymphoplasmacytic lymphoma; IgM M spike; hyperviscosity
Hodgkin’s lymphoma neoplastic component, Reed Stemberg (RS) cell; CD15 CD30 positive
Lymphocyte predominant Hodgkin’s infrequent classic RS cells
Nodular sclerosing Hodgkin’s female dominant; supraclavicular nodes + anterior mediastinal nodes
Mixed cellularity Hodgkin’s male dominant; numerous RS cells; EBV association
Hodgkin’s prognosis stage of disease and type of Hodgkin’s most important factors
Alkylating agents in Rx of Hodgkins ↑ risk for second malignancies (leukemia; NHL)
Langerhan’s histiocytes CD1 positive; Birbeck granules
Letterer-Siwe disease malignant histiocytosis <2 yrs old; diffuse eczematous rash; organ involvement
Hand-Christian-Christian disease malignant; lytic skull lesions, diabetes insipidus, exophthalmos
Eosinophilic granuloma benign histiocytosis; lytic bone lesions with pathologic fractures
Mast cells release histamine (pruritus; swelling); metachromatic granules positive with toluidine blue
Urticaria pigmentosum localized mastocytosis; skin lesions swell and itch with scratching
Amyloid twisted β-sheet; apple green birefringence with Congo red
Primary amyloidosis AL amyloid derived from light chains; plasma cell disorders
Secondary amyloidosis AA amyloid derived from serum-associated amyloid; chronic infections
Alzheimer’s disease amyloid precursor protein gene product chromosome 21; amyloid-β
Gaucher’s disease macrophages have fibrillary appearance; deficiency glucocerebrosidase
Niemann Pick’s disease macrophages have soap bubble appearance; deficiency sphingomyelinase
Hypersplenism splenomegaly; peripheral blood cytopenias; portal hypertension MCC
Splenic dysfunction Howell Jolly bodies; susceptible to Streptococcus pneumoniae sepsis
Anticoagulants tissue plasminogen activator, heparin, PGI2 ATIII, protein C/S
Heparin enhances ATIII activity (neutralizes all factors except V, VIII, fibrinogen)
Protein C/S neutralize V and VIII
Procoagulants coagulation factors, thromboxane A2 (platelet aggregation, vasoconstrictor)
Protein C and S inactivate factors V and VIII; enhance fibrinolysis
von Willebrand factor complexes with factor VIII to enhance VIII:C activity; platelet adhesion
Platelets receptors for von Willebrand factor and fibrinogen; synthesize thromboxane A2
GpIb platelet receptor for von Willebrand factor
GpIIb:IIIa platelet receptor for fibrinogen
Extrinsic system factor VII
Intrinsic system factors XII, XI, IX, VIII
Final common pathway factors X, V, prothrombin (II), fibrinogen (I)
Factor XIII cross-links insoluble fibrin; strengthens fibrin clots
Vitamin K-dependent factors prothrombin, VII, IX, X, protein C and S
Factors consumed in a clot fibrinogen, prothrombin, V, VIII; fluid is called serum
Plasmin cleaves fibrinogen and insoluble fibrin into degradation products
Bleeding time evaluates platelet function (adhesion, release reaction, aggregation)
Aspirin MCC of a prolonged bleeding time
Tests for vWF ristocetin cofactor assay; vWF antigen assay; agar electrophoresis
PT evaluates extrinsic pathway to fibrin clot
PTT evaluates intrinsic pathway to stable fibrin clot
Fibrinolysis tests fibrin(ogen) degradation products; D-dimers (cross-linked insoluble fibrin)
S/S platelet dysfunction cannot form temporary plug; epistaxis; petechiae; bleeding from scratches
Idiopathic thrombocytopenic purpura (ITP) children; antibodies against GpIIb:IIIa; no splenomegaly
Chronic autoimmune thrombocytopenic purpura SLE; antibodies against GpIIb:IIIa receptors
Heparin thrombocytopenia due to IgG antibody against heparin attached to PF4 on platelets
PF4 heparin neutralizing factor
HIV thrombocytopenia MC hematologic abnormality; similar to ITP
TTP platelet thrombi develop in areas of endothelial damage in small vessels; consumption of platelets
S/S fever, thrombocytopenia, renal failure, hemolytic anemia with schistocytes, CNS deficits
Lab findings TTP thrombocytopenia, prolonged bleeding time, normal PT and PTT
HUS similar to TTP; endothelial injury from Shiga-like toxin of 0157:H7 E. coli in undercooked beef
S/S factor deficiency no stable fibrin clot-late rebleeding; menorrhagia; GI bleeding; hemarthroses
Hemophilia A XR; hemarthroses; prolonged PTT, ↓ factor VIII activity, normal VIII antigen
von Willebrand’s disease AD; platelet adhesion defect + factor VIII deficiency
Lab findings in VWD ↓ vWF, VIII antigen, and VIII:C; prolonged bleeding time
Desmopressin acetate Rx of choice for mild von Willebrand’s disease and hemophilia A
Circulating anticoagulants antibodies destroy coagulation factors
Lab finding in circulating anticoagulant prolonged PT and/or PTT corrected with mixing studies
Vitamin K deficiency ↓ epoxide reductase activity (↓ function vitamin K); hemorrhagic diathesis; ↑ PT
Causes vitamin K deficiency antibiotics MC, newborn, malabsorption, warfarin
DIC activation coagulation system from release of tissue thromboplastin and/or endothelial cell damage
DIC consumption coagulation factors by fibrin clots; patient also anticoagulated
Causes septic shock MCC, rattlesnake bite, massive trauma, amniotic fluid
S/S bleeding from all scratches, holes, needle sites
Lab findings DIC thrombocytopenia, ↑ PT and PTT, D-dimers (best test), anemia
Antiphospholipid antibodies lupus anticoagulant and anticardiolipin antibodies; vessel thrombosis
Warfarin inhibits epoxide reductase; PT best test but PTT also prolonged
Warfarin full anticoagulation in 3 days when -carboxylated prothrombin disappears
Warfarin ingredient in rat poison; danger to children in households with grandparents on warfarin
Rx warfarin over anticoagulation intramuscular vitamin K (6-8 hrs), fresh frozen plasma (immediate)
Heparin enhances ATIII; PTT best test but PT also prolonged
OC estrogen ↑ coagulation factor synthesis and ATIII; predisposes to thrombosis
Factor V Leiden MC hereditary thrombosis; resistant to degradation by protein C/S
ATIII deficiency no prolongation of PTT with administration of heparin
Hemorrhagic skin necrosis post-warfarin therapy in patient with heterozygote protein C deficiency
M cells specialized cells that transfer foreign antigens to lymphocytes in Peyer’s patches
Blood group O some patients have anti-AB-IgG antibodies; increased incidence duodenal ulcers
Blood group A increased incidence of gastric carcinoma
Newborns do not have natural blood group antibodies at birth (e.g., anti-A-lgM)
Elderly may lose natural blood group antibodies; no hemolytic reaction to mismatched blood
Rh antigens inherited in autosomal codominant fashion; Rh antigens include D, C, c, E, e
Atypical antibodies antibodies against Rh or non-Rh blood group antigens (e.g., anti-D)
Duffy antigen receptor for Plasmodium vivax; blacks often lack Duffy antigen
Antibody screen indirect Coomb’s test; detects atypical antibodies in serum
Cytomegalovirus MC infection transmitted by blood transfusion; MC antibody
Hepatitis C MCC of post-transfusion hepatitis
Major crossmatch patient serum reacted against donor RBCs; does not guarantee RBC survival
Universal donor blood group O; no antigens on the surface of RBCs
Universal recipient blood group AB; no natural blood group antibodies in serum
Packed RBC transfusion raises Hb by 1 gm/dL and Hct by 3%
Cryoprecipitate fibrinogen and factor VIII
Fresh frozen plasma replacement for multiple factor deficiencies (e.g., cirrhosis, DIC)
Allergic transfusion reaction type I IgE-mediated hypersensitivity reaction
Febrile transfusion reaction recipient anti-HLA antibodies react against donor leukocytes
Intravascular HTR transfusion of ABO incompatible blood (e.g., A person receives B blood)
Extravascular HTR antibody attaches to donor RBCs; macrophage phagocytosis and hemolysis
Positive direct Coomb’s test present in both types of hemolytic transfusion reactions
S/S jaundice, no increase in Hb, hemoglobinuria
ABO HDN mother O and baby A or B; transplacental passage of maternal anti-AB-IgG
ABO HDN positive direct Coomb’s test; spherocytes; MCC unconjugated hyperbilirubinemia first 24 hrs
Rh HDN mother Rh (D antigen) negative and fetus Rh (O antigen) positive
Rh HDN no hemolysis in first Rh incompatible pregnancy
Rh HDN maternal anti-D crosses placenta; potential for hydrops fetalis; high risk for kernicterus
Rh immune globulin anti-D; coats D antigen site on fetal RBCs in maternal circulation
Rh HDN lab positive direct Coomb’s; severe anemia and hyperbilirubinemia
ABO HDN protects mother from Rh sensitization (development of anti-D antibodies)
O Rh negative mother with A Rh positive baby A+ cells destroyed by mothers anti A-lgM
Blue fluorescent light converts unconjugated bilirubin in skin into harmless water soluble dipyrrole
MV auscultation apex
TV auscultation left parasternal border
AV auscultation right 2nd intercostal space
PV auscultation left 2nd intercostal space
S1 closure MV and TV
S2 closure AV and PV
Inspiration split in A2 and P2; due to increased blood in right side of heart
S3 abnormal; due to blood entering volume overloaded ventricle in early diastole
Causes S3 valve regurgitation; congestive heart failure
S4 abnormal; due to blood entering non-compliant ventricle with atrial contraction in late diastole
Causes S4 volume overloaded ventricle, hypertrophy
Murmurs stretching valve ring or damage to valve
Inspiration increases right sided abnormal heart sounds and murmurs
Expiration increases left sided abnormal heart sounds and murmurs
Stenosis murmurs problem in opening valve
Regurgitation murmurs problem in closing valve
Valves opening in systole AV and PV
Valves opening in diastole MV and TV
Valves closing in systole MV and TV
Valves closing in diastole AV and PV
LDL primary vehicle for carrying cholesterol
VLDL primary vehicle for carrying liver-synthesized triglyceride
Familial hypercholesterolemia (type II) AD; deficiency of LDL receptors; ↑ LDL
Type III hyperlipoproteinemia deficiency apo E; ↑ remnants (chylomicron, intermediate density)
Type IV hyperlipoproteinemia ↑ VLDL; alcoholics
Apo B deficiency deficiency apo B48 (chylomicrons) and B100 (VLDL); ↓ CH and TG
Clinical findings in apo B deficiency malabsorption; hemolytic anemia
Atherosclerosis reaction to injury of endothelial cells
Risk factors smoking, ↑ LDL, ↑ homocysteine, Chlamydia pneumoniae infection
Cells involved platelets, macrophages, smooth muscle cells, T cells with cytokine release
Fibrous plaque pathognomonic lesion of atherosclerosis
C-reactive protein marker of an inflammatory atheromatous plaque
Inflammatory atheromatous plaque predisposes to platelet thrombosis
Increased plasma homocysteine ↑ vessel thrombosis; folate (MC)/vitamin B12 deficiency
Hyaline arteriolosclerosis small vessel disease of DM and hypertension; excess protein in vessel wall
Mechanisms hyaline arteriolosclerosis in DM non-enzymatic glycosylation
Non-enzymatic glycosylation glucose attaches to amino acids in BM; causes ↑ permeability to protein
Mechanisms hyaline arteriolosclerosis in hypertension pressure pushes proteins into vessel wall
Abdominal aortic aneurysm rupture due to atherosclerosis; flank pain, hypotension, pulsatile mass
Syphilitic aneurysm vasculitis of vasa vasorum of aortic arch; aortic regurgitation
Aortic dissection due to hypertension and collagen tissue disorders (e.g., Marfan)
Cystic medial degeneration elastic tissue degeneration creates spaces filled with mucopolysaccharides
Intimal tear in aorta due to wall stress from hypertension and structural weakness
Types of dissection proximal (MC); distal or combination of both
S/S proximal aortic dissection chest pain radiating to back, lack of pulse; cardiac tamponade MC COD
Marfan’s AD; fibrillin defect; aortic regurgitation/dissection; lens dislocation; MVP with sudden death
MC COD Marfan’s and Ehlers Danlos aortic dissection
Phlebothrombosis stasis of blood flow; deep veins below knee MC site
Pulmonary thromboembolism emboli originate from femoral veins
Superficial migratory thrombophlebitis sign of carcinoma of head of pancreas
Thoracic outlet syndrome absent radial pulse with positional change
Turner’s syndrome lymphedema hands/feet in newborn; preductal coarctation
Spider telangiectasia arteriovenous fistula; due to hyperestrinism (cirrhosis, pregnancy)
Capillary hemangioma in newborn regress with age; do not surgically remove
Kaposi’s sarcoma HHV-8; vascular malignancy; MC cancer in AIDS
Bacillary angiomatosis Bartonella henselae; vascular infection in AIDS
Small vessel vasculitis palpable purpura; e.g., Henoch Schonlein purpura
Muscular artery vasculitis vessel thrombosis with infarction; e.g., classical polyarteritis nodosa
Elastic artery vasculitis absent pulse, stroke
Takayasu’s arteritis pulseless disease; young Asian woman
Giant cell arteritis temporal artery granulomatous vasculitis; ipsilateral blindness (ophthalmic artery)
Classical polyarteritis nodosa muscular artery vasculitis with vessel thrombosis infarction
Path findings vessel inflammation at different stages; aneurysms from vessel weakness
S/S infarctions in kidneys, skin, GI tract, heart; HBsAg in 30%
Diagnosis angiography identifies aneurysms and thrombosis
Kawasaki’s disease coronary artery vasculitis/thrombosis/aneurysms in children
S/S chest pain; desquamating rash; swelling hands/feet; cervical lymphadenopathy
Rx IV γ-globulin
Buerger’s disease (thromboangiitis obliterans) smoker’s digital vasculitis; digital infarction
Raynaud’s syndrome digital vasculitis in PSS and CREST syndrome
S/S digital pain; white-blue-red color changes
Cryoglobulinemia protein gels in cold temperature; Raynaud’s syndrome; HCV association
S/S acral cyanosis relieved by coming indoors
Wegener’s granulomatosis association with c-ANCA; sinusitis, lung infarction, crescentic GN
Microscopic polyangiitis palpable purpura; crescentic GN; association with p-ANCA
Henoch-Schönlein purpura IgA-anti-IgA ICs; palpable purpura buttocks/legs; arthritis; IgA GN
Serum sickness vasculitis e.g., horse antivenin in Rx of rattlesnake envenomation
Rocky Mountain spotted fever tick borne
Rickettsia infection; vasculitis causes petechia on palms → trunk
Meningococcemia sepsis causes petechia/ecchymoses; potential for Waterhouse Friderichsen syndrome
Essential HTN blacks defect in renal excretion of sodium; ↑ plasma volume, ↓ PRA
Renovascular HTN atherosclerosis renal artery in men; fibromuscular hyperplasia renal artery women
S/S epigastric bruit; ↑ PRA affected kidney, ↓ PRA unaffected kidney
Endocrine HTN 1º HPTH, Graves/hypothyroidism, Cushing’s, 1º aldosteronism, phaeochromocytoma
Hypertension LVH MC complication; AMI MC COD followed by stroke and renal failure
Afterload resistance ventricles contract against
Preload volume ventricles must eject
Concentric LVH increased afterload; e.g., essential HTN, aortic stenosis
LVH with dilation/hypertrophy increased preload; e.g., valve regurgitation; left to right shunts
LHF forward failure; pulmonary edema, pillow orthopnea, paroxysmal nocturnal dyspnea
Systolic dysfunction LHF due to decreased ventricular contractility (ischemia)
Diastolic dysfunction LHF due to decreased ventricular compliance (hypertrophy)
RHF backward failure; ↑ venous hydrostatic pressure; neck vein distention, hepatomegaly, edema
ACE inhibitors decrease afterload and preload in heart failure
Diuretics in CHF reduce preload
Non-pharmacologic Rx in CHF restrict salt and water
AMI MC COD in United States; left anterior descending coronary artery thrombosis MCC
Exertional angina coronary artery atherosclerosis; subendocardial ischemia; ST depression
Prinzmetal’s angina coronary artery vasospasm; transmural ischemia; ST elevation
Sudden cardiac death death within 1 hr of symptoms
Path findings severe coronary artery atherosclerosis; absence of occlusive thrombosis
LAD coronary artery anterior portion left ventricle, anterior 2/3rds IVS
RCA posterior portion left ventricle and papillary muscle, inferior 1/3rd IVS, right ventricle
AMI rupture of inflammatory plaque produces platelet thrombus
Ventricular fibrillation MC COD in AMI
AMI no gross changes until 24 hrs
S/S AMI retrosternal pain radiating down arms, diaphoresis
AMI ruptures 3rd-7th day
Anterior wall rupture MC type; LAD thrombosis; cardiac tamponade
Posteromedial papillary muscle rupture RCA thrombosis; mitral regurgitation with LHF
IVS rupture LAD thrombosis; left to right shunt; RHF
Mural thrombus anterior AMI; danger embolization
Pericarditis first week in transmural AMI; 6 wks later autoimmune
S/S friction rub; leaning forward relieves pain
Ventricular aneurysms late manifestation of AMI; precordial systolic bulge; CHF MC COD
Right ventricular infarction RCA thrombosis; hypotension, RHF, preserved left ventricular function
Diagnosis of AMI CK-MB and troponins; CK-MB absent by 3 days; troponins last 7-10 days
LDH isoenzymes no longer used; LDH 1/2 flip indicates AMI
Reinfarction reappearance CK-MB after 3 days
ECG findings in AMI inverted T waves; ST elevation; Q waves
Ejection fraction EF = stroke volume/left ventricular end-diastolic volume; 80/120 = 0.66
By-pass surgery use internal mammary artery and saphenous veins (“arterialize” after 10 yrs)
Angioplasty complication localized dissection with thrombosis
Umbilical vein highest O2 saturation
Ductus arteriosis in fetus shunts blood from pulmonary artery to aorta; PGE keeps it open
Ductus arteriosus in newborn closes and becomes ligamentum arteriosum
Eisenmenger’s syndrome cyanosis due to reversal of left to right shunt
VSD MC congenital heart disease; ↑ SaO2 right ventricle (RV), pulmonary artery (PA)
ASD patent foramen ovale; ↑ SaO2 right atrium (RA), RV, PA; MC adult congenital heart disease
Down syndrome endocardial cushion defect (combined ASD and VSD)
PDA machinery murmur; close with indomethacin; ↑ SaO2 PA
Tetralogy of Fallot degree of pulmonic stenosis determines if cyanosis is present
Tetralogy of Fallot ↓ left ventricle, aorta
Tetralogy of Fallot ASD and PDA are cardioprotective
Complete transposition cyanosis; aorta empties RV; PA empties left ventricle
Complications cyanotic heart disease 2° polycythemia; infective endocarditis; metastatic abscesses
Pre-ductal coarctation Turner’s syndrome
Post-ductal coarctation constriction distal to ligamentum arteriosum
S/S upper extremity HTN; claudication; rib-notching; activation RAA also causes HTN
Acute rheumatic fever type II hypersensitivity; group A streptococcus pharyngeal infection
Acute rheumatic fever sterile vegetations mitral valve (regurgitation); myocarditis with Aschoff nodule
S/S polyarthritis (MC), carditis, erythema marginatum, rheumatoid nodules, chorea
Mitral stenosis chronic rheumatic fever; opening snap followed by mid-diastolic rumble
Mitral stenosis left atrial dilation hypertrophy - atrial fibrillation, thrombus, pulmonary edema, RHF
MVP myxomatous degeneration of mitral valve; common in Marfan syndrome, Ehlers Danlos
S/S mid-systolic click followed by a murmur; palpitations, chest pain, rupture of chordae
MVP click/murmur close to S1 decrease preload (stand, Valsalva, anxiety)
MVP click/murmur close to S2 increase preload (supine, squat, clench fist)
Mitral regurgitation pansystolic murmur; S3 and S4 common
Causes LHF, infective endocarditis, acute rheumatic fever
Aortic stenosis systolic ejection murmur; syncope and angina with exercise; hemolytic anemia
Aortic stenosis murmur increased preload worsens obstruction and increases murmur intensity
Aortic stenosis murmur decreased preload decreases obstruction and decreases murmur intensity
Causes bicuspid aortic valve; age-related sclerosis
Aortic regurgitation bounding pulses; early diastolic blowing murmur
Austin Flint murmur diastolic murmur; regurgitant flow on anterior leaflet mitral valve
Significance Austin Flint murmur sign for AV replacement
Causes aortic regurgitation essential HTN, infective endocarditis, acute rheumatic fever, dissection
Tricuspid regurgitation pansystolic murmur ↑ intensity with inspiration
Causes endocarditis IV drug abuse; RHF; carcinoid heart disease
Carcinoid heart disease tricuspid regurgitation, pulmonic stenosis
Infective endocarditis (IE) Streptococcus viridans MCC; Staphylococcus aureus MCC IVDA
IE prosthetic heart valve Staphylococcus epidermidis (coagulase negative)
IE ulcerative bowel disease Streptococcus bovis
S/S IC vasculitis-Roth spot, splinter hemorrhages; regurgitant murmurs; metas1atic abscesses
Lab findings positive blood culture Libman Sacks endocarditis
Coxsackievirus MCC of myocarditis (lymphocyte infiltrate in myocardium) and pericarditis
Parasitic cause myocarditis leishmania in Chagas disease
Pericardial effusion all chamber pressures are uniformally increased
S/S muffled heart sounds, pulsus paradoxus, inspiratory neck vein distention
Dx and Rx echocardiogram, pericardiocentesis, respectively
Pulsus paradoxus drop in blood pressure >10 mmHg with inspiration
Constrictive pericarditis TB MCC worldwide; pericardial knock
Congestive cardiomyopathy generalized chamber enlargement; low ejection fraction
Causes postpartum, cardiotoxic drugs, hypothyroidism, alcohol
Hypertrophic cardiomyopathy MCC of sudden death in young person (due to conduction defects)
Site of obstruction anterior leaflet mitral valve drawn against asymmetric thickened IVS
Effect decreased preload on systolic murmur worsens obstruction and increases murmur intensity
Effect increased preload on systolic murmur reduces obstruction and decreases murmur intensity
Restrictive cardiomyopathy decreased compliance
Causes iron, amyloid, glycogen; sarcoidosis; tropical endocardial fibrosis
Cardiac myxoma benign tumor left atrium; embolization; syncope
Cardiac rhabdomyoma childhood tumor; association with tuberous sclerosis
U wave hypokalemia; MCC diuretic therapy (e.g., thiazides; loop diuretics)
Peaked T wave hyperkalemia; MCC renal failure
ST depression subendocardial ischemia (e.g., classical angina pectoris)
ST elevation transmural ischemia (e.g., AMI), pericarditis, ventricular aneurysm
Atrial fibrillation MC chronic arrhythmia; absent P waves; danger for embolization
Ventricular premature beats wide QRS complexes; MC arrhythmia in coronary care unit
Ventricular fibrillation MCC of death in an AMI
Anterior AMI Q waves in I and V1-V4
Inferior AMI Q waves in II, III, and aVF; right coronary artery thrombosis.
Wolff-Parkinson-White short PR interval with normal P wave; delta wave on upstroke of R wave
Alveolar O2 calculation % O2 breathing (713) - PCO2/0.8
Increased A-a gradient primary lung disease; left to right shunts in heart
Forced vital capacity total amount of air expelled after a maximal inspiration
Forced expiratory volume/1 second (FEV1) amount of air expelled in I second after maximal inspiration
Choanal atresia cyanotic when breast feeding; turns pink when crying
Nasal polyps allergic (MC; adults only), aspirin, cystic fibrosis
Nasal polyp in a child requires sweat test to exclude cystic fibrosis
Triad asthma patient on aspirin (pain syndrome) with nasal polyps, asthma
Obstructive sleep apnea (OSA) snoring with intervals of apnea (respiratory acidosis with hypoxemia)
S/S danger cor pulmonale; requires sleep test; Rx. O2 with continuous positive airway pressure
Sinusitis maxillary sinusitis MC in adults; ethmoiditis MC in children; S. pneumoniae MC
Nasopharyngeal carcinoma association with EBV; metastasize to cervical nodes
Laryngeal carcinoma smoking MCC; hoarseness; squamous cell carcinoma
Resorption atelectasis MCC of fever 24-36 hours after surgery
S/S ↓ percussion; absent fremitus, breath sounds; inspiratory lag; elevated diaphragm
RDS decreased production surfactant; airway collapse; hyaline membranes
Type II pneumocytes synthesize surfactant (lecithin, phosphatidylcholine); stored in lamellar bodies
Surfactant reduces surface tension in airways; ↑ synthesis cortisol, thyroxine; ↓ synthesis insulin
Causes RDS prematurity, maternal diabetes, C-section
Maternal diabetes maternal hyperglycemia → fetal hyperglycemia → fetal insulin which ↓ surfactant
Complications RDS O2 FR injury (blindness, bronchopulmonary dysplasia); necrotizing enterocolitis
Typical community acquired pneumonia Streptococcus pneumoniae MCC
Typical pneumonia bronchopneumonia, lobar pneumonia
S/S productive cough; consolidation - ↓ percussion, ↑ tactile fremitus
Atypical community acquired pneumonia interstitial pneumonia; Mycoplasma pneumoniae MCC
S/S low grade fever, non-productive cough, no signs consolidation
Nosocomial pneumonia Pseudomonas, aeruginosa MCC (respirators); others - S. aureus, E. coli
Rhinovirus MCC common cold; hand to mouth transmission
Respiratory syncytial virus MCC pneumonia and bronchiolitis in child
Parainfluenza virus MCC croup in child; trachea area of obstruction
Cytomegalovirus basophilic intranuclear inclusion surrounded by halo
Influenza superimposed pneumonia with S. aureus increases mortality
Rubeola Warthin-Finkeldey multinucleated giant cells
Chlamydia pneumoniae atypical pneumonia; association with coronary artery disease
Chlamydia trachomatis pneumonia in newborns; staccato cough; wheezing
Coxiella burnetii only rickettsia without a vector
Mycoplasma pneumoniae pneumonia crowded condition; cold agglutinins; azithromycin
Streptococcus pneumoniae pneumonia gram positive diplococcus; azithromycin
Staphylococcus aureus pneumonia tension pneumatocysts in children with cystic fibrosis
Corynebacterium diphtheriae toxin produces ADP ribosylation of elongation factor 2
Haemophilus influenzae exacerbation chronic bronchitis; acute epiglottis in children
Inspiratory stridor child croup, epiglottitis
Pseudomonas aeruginosa MCC of pneumonia and death in cystic fibrosis; green sputum
Klebsiella pneumoniae mucoid sputum in alcoholic
Legionella pneumophila silver stain; water coolers/mist (grocery produce, restaurants, zoo rain forest)
Mycobacterium tuberculosis strict aerobe; MC COD due to infectious disease worldwide
Candida albicans vessel invader; yeasts and pseudohyphae
Cryptococcus immitis pigeon excreta; narrow-based bud
Aspergillus fumigatus septate hyphae with fruiting body; fungus ball, extrinsic asthma, vessel invader
Mucor species non-septate; vessel invader; frontal lobe abscess in diabetic ketoacidosis
Coccidioides immitis Southwest deserts; inhale arthrospores in dust; spherule with endospores
S/S erythema nodosum (painful nodules lower legs)
Histoplasma capsulatum Ohio/central Mississippi river valley; excreta bats (spelunker), chickens
H. capsulatum simulates TB; yeasts phagocytosed by macrophages
Blastomyces dermatitidis overlaps histoplasmosis; broad-based buds; skin lesion simulates cancer
Pneumocystis carinii cysts and trophozoites; pneumonia in HIV; Rx. trimethoprim/sulfamethoxazole
Primary TB upper portion lower lobe, lower portion upper lobe
Primary TB Ghon focus (subpleural caseation); Ghon complex (spread to hilar nodes)
Reactivation TB cavitating lesion in upper lobe; kidney MC extrapulmonary site
Mycobacterium avium intracellulare (MAI) atypical TB; MC TB in AIDS
CF AR; 3 nucleotide deletion chromosome 7; defective CFTR (degraded in Golgi apparatus)
S/S pneumonia, malabsorption, males sterile; + sweat test; P. aeruginosa pneumonia MC COD
Lung abscess MCC aspiration oropharyngeal material (mixed aerobe/anaerobe); x-ray - air/fluid level
Aspiration sitting posterobasal segment right lower lobe
Aspiration supine superior segment right lower lobe
Aspiration right side right middle lobe, posterior segment right upper lobe
Pulmonary thromboembolism most derive from femoral vein
Bronchial artery branch of aorta/intercostal artery; protects against developing pulmonary infarction
Saddle embolus sudden death due to acute right heart strain
S/S pulmonary infarction dyspnea and tachypnea; pleuritic chest pain; pleural effusion
Dx ventilation/perfusion scan; respiratory alkalosis; hypoxemia
Pain on inspiration pleuritic inflammation; pulmonary embolus, pneumonia, pneumothorax
Pathogenesis pulmonary hypertension (PH) hypoxemia and respiratory acidosis
Hypoxemia + respiratory acidosis vasoconstriction pulmonary vessels; vasodilation cerebral vessels
Causes PH 1° lung disease (COPD, restrictive), recurrent emboli, mitral stenosis, OSA, left-right shunts
Cor pulmonale PH + RVH
S/S dyspnea; accentuated P2 (PH); parasternal heave (RVH)
Restrictive lung disease ↓ compliance, ↑ elasticity; interstitial fibrosis/edema
Restrictive lung disease (RLD) ↓ all volumes and capacities; ↑ FEV1sec/FVC ratio
ARDS RLD; non-cardiogenic pulmonary edema due to alveolar injury
ARDS neutrophil destruction of type I and II pneumocytes; hyaline membranes
Causes septic shock (MC), aspiration gastric contents, severe trauma
Pneumoconiosis inhalation mineral dust causing interstitial fibrosis; particles <0.5 μm to reach alveoli
Caplan syndrome pneumoconiosis + rheumatoid nodules in lungs
Coal worker’s “black lung” disease; progressive massive fibrosis; no increased incidence cancer or TB
Silicosis quartz; nodular opacities; foundry workers; ↑ incidence cancer and TB
Sources asbestos roofing material, old buildings (9/11), pipe-fitter shipyard
Ferruginous bodies asbestos fiber coated by iron
Asbestosis benign pleural plaques (MC); bronchogenic carcinoma (MC cancer); mesothelioma
Mesothelioma malignancy of serosa; no smoking association
Sarcoidosis RLD; MC non-infectious lung and liver granulomatous disease
S/S dyspnea, hilar adenopathy (non-caseating granulomas), uveitis, nodular skin lesions
Lab findings ↑ ACE, hypercalcemia (macrophages synthesize 1-α-hydroxylase)
Kveim test intradermal injection sarcoid antigens causes skin reaction
Farmer’s lung RLD; lung reaction against thermophilic bacteria in moldy hay
Silo filler’s disease RLD; reaction against nitrogen dioxide in fermenting corn
Byssinosis RLD; reaction against cotton, linen, hemp products in textile industry
Goodpasture’s syndrome RLD; anti-BM antibodies; begins in lungs and ends in renal failure
Collagen vascular RLD SLE, rheumatoid arthritis, systemic sclerosis
Drugs RLD amiodarone, bleomycin, busulfan, cyclophosphamide, methotrexate, nitrofurantoin
Obstructive lung disease ↑ compliance, ↓ elasticity
Obstructive lung disease ↑ RV, TLC; ↓ TV, VC; ↓ FEV1sec and FVC; ↓ FEV1sec/FVC ratio
Obstructive lung disease asthma, emphysema, chronic bronchitis, bronchiectasis
Asthma extrinsic (type I hypersensitivity) and intrinsic types
S/S expiratory wheezing (inflamed terminal bronchioles); LTC4,-D4,-E4 bronchoconstrictors
Charcot-Leyden crystals derive from crystalline material in eosinophil granules
Lab findings initial respiratory alkalosis; respiratory acidosis requires intubation
Emphysema destruction elastic tissue respiratory unit; lung hyperinflation; smoking MCC; pink puffer
Respiratory unit respiratory bronchiole, alveolar duct, alveoli
Radiograph emphysema ↑ AP diameter; depressed diaphragms; vertical heart
Pathogenesis ↓ AAT, ↑ neutrophil destruction of elastic tissue
Centriacinar emphysema destruction/distention respiratory bronchioles upper lobe in smokers; THINK
Panacinar emphysema destruction/distention entire respiratory unit lower lobes; AAT deficiency
Paraseptal emphysema upper lobe destruction/distention alveolar ducts, alveoli; pneumothorax
Lab findings normal to decreased PCO2 (respiratory alkalosis)
Chronic bronchitis productive cough 3 months/2 consecutive years; blue bloater (cyanosis)
Site of obstruction terminal bronchioles (proximal to respiratory unit)
Lab findings respiratory acidosis/hypoxemia
Bronchiectasis obstruction/infection key causes; dilated bronchioles extend to periphery
Causes CF MCC, TB, immotile cilia syndrome
Immotile cilia syndrome absent dynein arm in cilia; sinusitis, infertility, bronchiectasis, situs inversus
Central lung cancers squamous cancer and small cell cancer; men > women
Peripheral lung cancers adenocarcinoma; women > men
Squamous lung cancer cavitate; secrete PTH-related protein
Small cell carcinoma neuroendocrine tumor; secrete ACTH and ADH
Bronchioloalveolar carcinoma no smoking relationship; lung consolidation resembling pneumonia
Scar carcinoma usually adenocarcinoma developing in old TB scar
Bronchial carcinoid low grade malignant; hemoptysis; rare cause carcinoid syndrome
Metastatic lung cancer more common than primary cancer; breast cancer MCC
Pancoast tumor squamous carcinoma posterior mediastinum; destruction superior cervical ganglion
S/S Horner’s syndrome - lid lag, miosis, anhydrosis; lower brachial plexus injury
Solitary coin lesion granuloma MCC
Superior vena caval syndrome primary lung cancer obstructs vessel; venous congestion
Anterior mediastinal masses thymoma; nodular sclerosing Hodgkin’s; teratomas
Posterior mediastinal masses usually neurogenic tumors of ganglia
Myasthenia gravis B cell hyperplasia of thymus MC abnormality; association with thymoma
Thymoma association with hypogammaglobulinemia, autoimmune disease, pure RBC aplasia
Pleural effusions transudates or exudates; CHF MCC
Spontaneous pneumothorax rupture subpleural or intrapleural bleb; air/pleural cavity pressure same
S/S pleuritic chest pain, dyspnea, tracheal shift ipsilateral side, absent breath sounds
Tension pneumothorax flap-like pleural tear; increased pleural cavity pressure; compression atelectasis
S/S as above except tracheal shift to opposite side
Cleft lip/palate failure of fusion of facial processes
Herpes labialis multinucleated giant cell with acidophilic intranuclear inclusions on Tzanck prep
Hairy leukoplakia EBV glossitis; pre-AIDS defining lesion; not precursor to cancer
Mumps bilateral parotitis; unilateral orchitis; ↑ amylase
Diphtheria pseudomembrane pharynx and trachea with cervical lymphadenopathy
Congenital syphilis notched central incisors
Actinomycosis anaerobic gram + filamentous bacteria; complication extracted dental abscess
S/S draining sinuses with sulfur granules
Exudative tonsillitis majority are viral; 20% group A streptococcus
Oral thrush common in newborn; pre-AIDS defining lesion; yeasts and pseudohyphae
Dental caries Streptococcus mutans
Peutz-Jegher’s syndrome mucosal pigmentation; hamartomatous polyps
Leukoplakia/erythroleukoplakia biopsy to rule out squamous dysplasia or cancer
Squamous cell carcinoma smoking and alcohol association; lower lip MC site
Smokeless tobacco verrucoid squamous cell carcinoma
Gum hyperplasia phenytoin, pregnancy, scurvy
Pleomorphic adenoma MC benign tumor of salivary glands; parotid MC site
Mucoepidermoid carcinoma MC malignant tumor major and minor salivary glands
Dysphagia for solids only lesion obstructing esophagus; e.g., cancer, web
Plummer-Vinson syndrome iron deficiency anemia causes esophageal web, glossitis, achlorhydria (↓ HCl in gastric acid)
Dysphagia for solids and liquids motor abnormality; e.g., achalasia MCC, PSS or CREST syndrome
TE fistula polyhydramnios; proximal esophagus ends blindly; distal esophagus derives from trachea
VATER syndrome vertebral abnormalities, anal atresia, TE fistula, renal disease/radius abnormality
Zenker’s diverticulum MC pulsion diverticulum of esophagus; halitosis (stinky breath, food gets stuck); near UES
GERD relaxation of lower esophageal sphincter (LES) with acid reflux
GERD MCC nocturnal cough and asthma
AIDS esophagitis Candida MC, CMV, HSV
Barrett’s esophagus glandular metaplasia distal esophagus in GERD
Complications of Barrett’s precursor for adenocarcinoma, stricture
Esophageal varices dilated left gastric vein; sign of portal hypertension due to cirrhosis
Mallory Weiss syndrome tear of distal esophagus from retching in alcoholic or bulimic
Boerhaave’s syndrome rupture of distal esophagus from retching; pneumomediastinum
Hamman’s mediastinal crunch pneumomediastinum (air in subcutaneous tissue)
LES ganglion cells contain VIP - relaxes LES
Achalasia failure of LES relaxation (no VIP); absent ganglion cells in the myenteric plexus
S/S aperistalsis/dilation of esophagus; regurgitation of undigested food at night
X-ray achalasia bird’s beak appearance
Acquired achalasia Chagas’ disease; leishmania destroy ganglion cells
Distal adenocarcinoma esophagus MC primary cancer; due to Barrett’s esophagus
Squamous cell carcinoma of esophagus smoking MCC; alcohol also causes
Melena sign of upper GI bleed; acid changes Hb to hematin; peptic ulcer disease MCC
Hematemesis vomiting blood; peptic ulcers MCC
Congenital pyloric stenosis hypertrophy pyloric muscle; vomiting non-bile stained fluid in 2-4 weeks
Acute hemorrhagic (erosive) gastritis NSAIDs MCC
Mucous barrier stomach maintained by PGE; misoprostol PGE analog
Type A chronic gastritis due to PA; achlorhydria with ↑ serum gastrin
Type B chronic gastritis due to H. pylori; involves pylorus and antrum
H. pylori curved rod; urease producer; MCC PUD, adenocarcinoma, gastric lymphoma
Gastric ulcer lesser curvature pylorus and antrum; poor defense against acid; food aggravates pain
Duodenal ulcer never malignant; ↑ acid production; food relieves pain
Perforated peptic ulcer air under diaphragm causes pain in left shoulder
Menetrier’s disease giant rugal hyperplasia; protein loss from increased mucus
Zollinger-Ellison syndrome malignant islet cell tumor secreting gastrin; part of MEN I syndrome
S/S PUD in usual locations; sometimes multiple ulcers
Hypergastrinemia ZE, achlorhydria, gastric distention, H2 or proton blockers; renal failure
Leiomyoma MC benign tumor of stomach
Intestinal type adenocarcinoma H pylori related; ↓ incidence; lesser curvature pylorus/antrum
Diffuse type adenocarcinoma linitis plastica; signet ring cells; Krukenberg tumors ovaries
Gastric lymphoma stomach MC site for extranodal lymphomas; H. pylori associated
Malabsorption steatorrhea; chronic pancreatitis, bile salt deficiency, small bowel disease
Causes bile salt deficiency liver disease, bile salt resins, cholestasis, bacterial overgrowth, Crohn’s
D-xylose screen failure to reabsorb xylose indicates small bowel disease
Calcification of pancreas chronic pancreatitis cause of malabsorption
Celiac disease autoimmune disease; antibodies against gliadin in gluten; flat villi
Celiac disease association with dermatitis herpetiformis
Whipple’s disease systemic infection; foamy macrophages with bacteria (PAS+ inclusions) in small bowel submucosa
S/S fever, polyarthritis, skin pigmentation
Invasive diarrhea Campylobacter jejuni MCC; positive fecal smear for leukocytes
Secretory diarrhea loss isotonic fluid; enterotoxins from E. coli and V. cholerae
Osmotic diarrhea hypotonic loss fluid; laxatives, lactase deficiency
Rotavirus MCC diarrhea in children
Norwalk virus MCC diarrhea in adults
Cytomegalovirus common cause diarrhea in AIDS; MCC cholecystitis and pancreatitis in AIDS
Staphylococcus aureus preformed toxin causes food poisoning; culture food
Bacillus cereus preformed toxin in fried rice and tacos; gram positive rods in stool
Clostridium botulinum (adult) preformed neurotoxin (blocks acetylcholine release); paralysis and mydriasis
Clostridium botulinum (child) colonization of bowel with release of neurotoxin; eating honey
Clostridium difficile pseudomembranous colitis; post-antibiotics; toxin assay stool; Rx metronidazole
Shigella sonnei produces dysentery (bloody diarrhea); associated with HUS
Salmonella enteritidis gastroenteritis; animal reservoirs - poultry, turtles
Salmonella paratyphi sepsis; osteomyelitis in HbSS
Salmonella typhi typhoid fever; human transmission; bradycardia, neutropenia, splenomegaly
Carrier state site gallbladder
M. tuberculosis MCC intestinal TB in United States (swallow TB); Peyer’s patch site of infection
Enterotoxigenic E. coli secretory diarrhea (traveler’s diarrhea); toxin stimulates guanylate cyclase
Vibrio cholerae secretory diarrhea; toxin stimulates adenylate cyclase to produce cAMP
Oral Rx cholera solution must contain glucose to reabsorb Na+ (co-transport)
Yersinia enterocolitica mesenteric lymphadenitis; sepsis in iron overload states
Entamoeba histolytica dysentery; trophozoites phagocytose RBCs; liver abscess; Rx metronidazole
Cryptosporidium parvum MCC diarrhea in AIDS; acid-fast oocysts
Giardia lamblia MC protozoal cause of diarrhea; cause of malabsorption; Rx metronidazole
Trichuris trichiura rectal prolapse in children
Enterobius vermicularis anal pruritus; urethritis in girls; no eosinophilia
Ascaris lumbricoides intestinal obstruction due to adult worms; no eosinophilia
Necator americanus hookworm; iron deficiency anemia
Strongyloides stercoralis rhabditiform larvae in stool not eggs
Diphyllobothrium latum fish tapeworm; vitamin B12 deficiency
Signs of small bowel obstruction colicky pain; constipation and obstipation
Radiograph small bowel obstruction air-fluid levels on x-ray
MCC small bowel obstruction adhesions from previous surgery
Duodenal atresia vomiting bile-stained fluid at birth; double bubble sign; Down syndrome
Hirschsprung disease absent ganglion cells in submucosal/myenteric plexus rectosigmoid
S/S proximal bowel dilated but peristalses; no stool in rectal vault
Hirschsprung association Down syndrome; Chagas disease
Intussusception terminal ileum telescopes into cecum; obstruction plus bloody diarrhea
Meconium ileus complication of cystic fibrosis
Indirect inguinal hernia second MCC of small bowel obstruction; common in weight lifting
Gallstone ileus obstruction of small bowel with gallstone + air in biliary tree
Volvulus MC due to sigmoid colon twisting around mesentery
Direct inguinal hernia protrudes through center of triangle of Hesselbach; no obstruction
Umbilical hernia common in black children; may entrap bowel in adults
Sigmoid colon MC site for polyps, cancer, diverticula
Small bowel infarction diffuse abdominal pain with bloody diarrhea
Causes small bowel infarction embolism (atrial fibrillation), thrombosis SMA or SMV
Ischemic colitis splenic flexure pain with bloody diarrhea
Mesenteric angina pain in splenic flexure 30 minutes after eating
Angiodysplasia submucosal dilation of venules in cecum; cause of hematochezia
Hematochezia massive loss of blood per rectum; diverticulosis MCC
Meckel’s diverticulum persistence omphalomesenteric duct
S/S bleeding MC (iron deficiency in children), diverticulitis
Meckel’s diverticulitis mimics acute appendicitis; cannot differentiate without radionuclide scan
Sigmoid diverticulum diverticulitis MC complication; MCC hematochezia and fistula formation
Diverticulitis “left-sided acute appendicitis”
Ulcerative colitis mucosal/submucosal ulceration; starts in rectum; crypt abscess; ↑ risk adenocarcinoma
S/S left lower quadrant crampy pain with bloody diarrhea
UC associations primary sclerosing cholangitis, seronegative HLA B27 + spondyloarthropathy
Crohn’s disease transmural inflammation; terminal ileum involved 80%; granulomas; skip lesions
S/S colicky pain and diarrhea; fistulas (anal, bowl to bowel)
Carcinoid tumor appendix MC site; terminal ileum MC site for carcinoid syndrome
Carcinoid syndrome liver metastasis; flushing/diarrhea due to serotonin; increased urine 5-HIAA
Tubular adenomas precursor lesion colon cancer; size and number determine risk of malignancy
Villous adenoma greatest risk for colon cancer (30%); secrete mucus rich in protein and potassium
Familial polyposis AD with 100% penetrance for developing colon cancer
Gardner’s syndrome AD, polyposis plus osteomas and desmoid tumors
Turcot’s syndrome AD, polyposis plus brain tumors
Colorectal cancer second MC cancer and cancer killer in adults
Left-sided colorectal cancer obstruct; MC location rectosigmoid
Right-sided colorectal cancer bleed
Acute appendicitis due to lymphoid hyperplasia in children and obstruction by fecalith in adults
External hemorrhoids thrombose
Internal hemorrhoids bleed; prolapse out of rectum
Urobilinogen (UBG) breakdown product CB in bowel (color of stool)
UBG enterohepatic circulation to liver and kidney (color of urine)
Alcoholic liver disease serum AST>ALT; ↑ serum GGT
Viral hepatitis serum ALT>AST
Cholestasis markers serum AP and GGT
Unconjugated bilirubin macrophage degradation of heme; lipid soluble; never in urine
Conjugated bilirubin (CB) water soluble; never normal in urine
% CB <20% (unconjugated) Gilberts, spherocytosis, physiologic jaundice newborn, ABO/Rh HDN
Gilbert’s disease AD; ↓ uptake and conjugation; bilirubin increases with fasting
Physiologic jaundice newborn unconjugated hyperbilirubinemia; begins on day three
% CB 20-50% viral/alcoholic hepatitis
% CB >50% bile duct obstruction (intra or extrahepatic); carcinoma head of pancreas
Negative urine bilirubin + trace urobilinogen normal urine
Positive urine bilirubin, absent urobilinogen obstructive jaundice
Positive urine bilirubin + increased urobilinogen hepatitis
Negative urine bilirubin + increased urobilinogen extravascular hemolytic anemia
Markers of severity of liver disease albumin, PT
Hepatitis A protective antibodies; day care centers, jails, homosexuals, traveling; not chronic
Hepatitis B protective antibodies; accidental needle stick, IVDA; hepatocellular carcinoma
Hepatitis C no protective antibodies; post-transfusion hepatitis; chronic state; hepatocellular carcinoma
Hepatitis D no protective antibodies; requires HBsAg to replicate
Anti-HBs alone vaccination
Anti-HBs + anti-HBc-IgG recovered from HBV
HBsAg + HBeAg + HBVDNA + anti-HBc-IgM acute HBV/chronic HBV infective carrier if >6 months
Anti HBc-IgM alone serologic gap; not infective
HBsAg + anti-HBc-IgM chronic HBV healthy carrier
Fulminant hepatic failure viral hepatitis and acetaminophen MCCs
Spontaneous peritonitis E. coli in adults; S. pneumoniae in children; complication of ascites
Granulomatous hepatitis TB MC bacteria
Amebiasis Entamoeba histolytica; flash shaped ulcers in cecum; liver abscess; Rx
Echinococcosis Echinococcus granulosis; sheep dog definitive host; man intermediate host
Schistosomiasis Schistosoma mansoni; adult worms in portal vein; “pipe stem cirrhosis”
Clonorchiasis Clonorchis sinensis; ingesting encysted larvae in fish; cholangiocarcinoma
Congestive hepatomegaly (centrilobular necrosis) “nutmeg” liver; RHF MCC
Hepatic vein thrombosis Budd-Chiari syndrome; painful hepatomegaly; ascites; portal hypertension
Portal vein thrombosis ascites, portal hypertension, no hepatomegaly
Alcohol related disorders fatty change; alcoholic hepatitis; cirrhosis
Hypertriglyceridemia in alcoholics ↑ synthesis of glycerol 3P (substrate for TG synthesis)
Hypoglycemia in alcoholics ↓ gluconeogenesis (↑ NADH causes pyruvate to convert to lactate)
Ketoacidosis in alcoholics ↑ lactate, ↑ ßOHB (acetyl CoA converted to AcAc and then ßOHB)
Primary biliary cirrhosis granulomatous destruction triad bile ducts; anti-mitochondrial antibody
Primary sclerosing cholangitis association with ulcerative colitis; MCC of cholangiocarcinoma
Extrahepatic biliary atresia neonatal cholestasis
Drugs causing hepatitis acetaminophen, isoniazid, halothane
Anabolic steroids intrahepatic cholestasis
Estrogen/oral contraceptives intrahepatic cholestasis; hepatic adenoma (intraperitoneal hemorrhage)
Methotrexate liver fibrosis, fatty change
Liver angiosarcoma vinyl chloride
Hemochromatosis AR; increased iron reabsorption; liver target organ
S/S cirrhosis; “bronze diabetes” - skin pigmentation + destruction of islet cells; malabsorption
Lab ↑ serum ferritin, iron, % saturation; ↓ TIBC
Wilson’s disease AR disease; defect in copper excretion in bile and synthesis of ceruloplasmin
S/S cirrhosis, movement disorder (necrosis in putamen), Kayser Fleisher ring (Descemet’s membrane)
Lab ↓ ceruloplasmin (causes ↓ total copper); ↑ serum/urine free copper
HELLP syndrome pre-eclampsia; Hemolytic anemia, ELevated transaminases, Low Platelets
AAT deficiency in child AR, cannot secrete AAT from liver cell; cirrhosis; hepatocellular carcinoma
Reye syndrome coma and microvesicular fatty change post viral infection; increased ammonia
Cirrhosis irreversible fibrosis; regenerative nodules; portal hypertension
Causes cirrhosis alcohol (MC), HBV/HCV, hemochromatosis, Wilson’s, AAT deficiency, 1° biliary
Hepatic encephalopathy mental status changes; ↑ serum ammonia
Portal hypertension ascites; varices; splenomegaly; hemorrhoids; caput medusae
Cause of ascites portal hypertension; hypoalbuminemia; secondary aldosteronism
Rx use aldosterone blocker (acidosis increases loss ammonium in stool)
Hyperestrinism in men gynecomastia; spider angiomas; female hair distribution
Lab findings cirrhosis ↓ BUN, glucose, sodium, potassium, calcium (↓ vitamin D); ↑ PT
Liver cell adenoma estrogen related (steroids, oral contraceptives); intraperitoneal hemorrhage
Liver cancer metastasis MC cancer; lung cancer MC primary site
Hepatocellular carcinoma chronic HBV and HCV MCC; ↑ AFP; hepatic/portal vein invasion
Cholangiocarcinoma primary sclerosing cholangitis MCC, C.C sinensis
Pathogenesis of cholesterol stones bile with too much cholesterol and too little bile salts
Black pigment stones sign of extravascular hemolytic anemia (spherocytosis, HbSS)
Acute cholecystitis stone impacted in cystic duct; right upper quadrant colicky pain with radiation to shoulder
Chronic cholecystitis chemical inflammation
Gallbladder cancer risk factors - cholelithiasis and porcelain gallbladder
Acute pancreatitis causes - alcohol and gallstones; ↑ amylase and lipase (more specific)
S/S epigastric pain with radiation into back
Sentinel loop localized ileus of duodenum due to acute pancreatitis
Pancreatic pseudocyst abdominal mass; persistence of ↑ serum amylase >1 week
Chronic pancreatitis alcohol abuse, CF; malabsorption, pain, type I diabetes
Pancreatic cancer smoking MCC
S/S jaundice/acholic (gray/pale) stools; palpable gallbladder; superficial migratory thrombophlebitis (Trousseau's sign); ↑ CA 19-9
First sign tubule cell dysfunction inability to concentrate urine
Fixed specific gravity chronic renal failure; cannot concentrate or dilute urine
Negative urine bilirubin + trace urobilinogen normal urine
Positive urine bilirubin, absent urobilinogen obstructive jaundice
Positive urine bilirubin + increased urobilinogen hepatitis
Negative urine bilirubin + increased urobilinogen extravascular hemolytic anemia
Positive urine nitrite + positive urine leukocyte esterase urinary tract infection
Sterile pyuria positive urine leukocyte esterase but negative standard culture; TB, C. trachomatis
Prerenal azotemia ↑ BUN and creatinine; ↓ renal blood flow (e.g. heart failure, hypovolemia)
Renal azotemia ↑ BUN and creatinine due to intrinsic renal disease (acute tubular necrosis)
Postrenal azotemia ↑ BUN and creatinine due to obstruction to urine flow
Serum BUN:creatinine ratio <15:1 (renal failure); >15:1 (prerenal or postrenal azotemia)
BUN 80 mg/dL:creatinine 8 mg/dL ratio 10/1 - renal failure
BUN 80 mg/dL:creatinine 2 mg/dL ratio 40/1 - prerenal azotemia or postrenal azotemia
Creatinine clearance measures GFR
Proteinuria important sign of renal dysfunction
RBC casts nephritic type of glomerulonephritis
WBC casts acute pyelonephritis, acute tubulointerstitial nephritis
Fatty casts with Maltese crosses nephrotic syndrome
Hyaline casts normal unless associated with proteinuria
Renal tubular cell casts acute tubular necrosis
Waxy or broad casts chronic renal failure
Cystinuria hexagonal crystals
Horseshoe kidney Turner’s syndrome; lower poles fused
Renal dysplasia MC childhood cystic disease; abnormal development; flank mass
Maternal oligohydramnios fetal juvenile polycystic kidney disease; Potter’s facies in newborn
Adult polycystic kidney disease AD; hypertension MC sign; cerebral berry aneurysms
Visceral epithelial cells synthesize basement membrane
Glomerular BM negative charge due to heparan sulfate
Nephritic syndrome oliguria; RBC casts; hypertension; mild to moderate proteinuria
Nephrotic syndrome proteinuria >3.5 g/day; ascites and pitting edema; fatty casts; fusion of podocytes
Immunofluorescence linear (anti-glomerular BM antibodies); granular (IC deposition)
IgA GN MC GN; usually nephritic; episodic hematuria; mesangial IC (lgA-anti-IgA) deposits
Post-streptococcal GN nephritic; subepithelial deposits; skin/pharyngeal infections; anti-DNAase B
SLE type IV GN nephritic; subendothelial deposits; anti-DNA antibodies
Crescentic GN crescents from parietal cell proliferation; worst GN; Goodpasture’s, Wegener’s
Goodpasture’s nephritic; anti-BM antibodies (glomerular + pulmonary capillary); crescentic GN
S/S young male with hemoptysis progressing to renal failure
Minimal change disease (lipoid nephrosis) MCC childhood nephrotic syndrome
Lipoid nephrosis podocyte fusion; loss of negative charge in glomerular BM
Focal segmental glomerulosclerosis nephrotic syndrome; AIDS and IV heroin abuse
Membranous GN MCC adult nephrotic syndrome; subepithelial deposits; epimembranous spikes
Causes membranous GN HBV, ACE inhibitors, cancer
Type I MPGN nephrotic; subepithelial deposits; HCV association; tram tracks
Type II MPGN nephrotic; C3 nephritic factor; intramembranous ICs (dense deposit disease)
DM nodular glomerulosclerosis microalbuminuria first sign
DM glomerulosclerosis nodules with collagen in mesangium; hyaline arteriolosclerosis of arterioles
ACE inhibitors inhibit angiotensin II vasoconstriction of efferent arterioles
Alport’s syndrome XD hereditary nephritis with sensorineural hearing loss
Ischemic ATN prerenal azotemia MCC; renal tubular cell casts; BUN:creatinine ratio <15:1
Ischemic ATN disruption of BM in proximal tubule and thick ascending limb
Nephrotoxic ATN aminoglycosides, IVP dye, Pb/mercury poisoning
Nephrotoxic ATN proximal tubule dysfunction; intact BM
Oliguria prerenal azotemia, ATN, glomerulonephritis, postrenal azotemia
Acute pyelonephritis vesicoureteral reflux with ascending infection; WBC casts, fever, flank pain
Chronic pyelonephritis U-shaped scars overlying blunt calyces
Drug-induced tubulointerstitial nephritis type I/IV reaction; e.g., penicillin
S/S ARF, fever, rash, eosinophilia, eosinophiluria, WBC casts
Analgesic nephropathy aspirin plus acetaminophen; renal papillary necrosis; IVP with ring defect
Myeloma kidney BJ protein produces foreign body reaction in tubules
Urate nephropathy prevent by giving allopurinol prior to chemotherapy
CRF fixed specific gravity; BUN:creatinine <15:1; waxy and broad casts
Renal osteodystrophy CRF hypovitaminosis D (no 1-α-hydroxylase); produces osteomalacia
Renal osteodystrophy CRF osteoporosis from metabolic acidosis
Renal osteodystrophy CRF secondary HPTH with increased osteoclastic activity
S/S CRF pericarditis, prolonged bleeding time, normocytic anemia, pathologic fractures
Benign nephrosclerosis kidney of hypertension; shrunken kidneys due to hyaline arteriolosclerosis
Malignant hypertension renal failure; encephalopathy; BP >210/120 mm Hg; IV nitroprusside
Renal findings necrotizing arteriolitis; “flea bitten” kidney; hyperplastic arteriolosclerosis
Renal infarction pale infarcts; hematuria; common in polyarteritis nodosa
Hydronephrosis renal stone MCC; atrophy of cortex/medulla; postrenal azotemia
Renal stones most contain calcium (calcium oxalate/phosphate); hypercalciuria MC risk factor
S/S colicky pain radiating into groin, hematuria; x-ray usually shows stone
Staghorn calculus due to urease producing organisms (Proteus); alkaline urine pH; ammonia smell
Angiomyolipoma hamartoma; associated with tuberous sclerosis
Renal cell carcinoma smoking MCC; invasion renal vein/vena cava; lung, bone mets; yellow colored
S/S flank mass, hematuria; ectopic hormones (EPO, PTH related peptide), left-sided varicocele
Renal pelvis transitional cell carcinoma smoking MCC, phenacetin, aniline dyes, cyclophosphamide
Wilm’s tumor hypertension, unilateral abdominal mass in child; aniridia/hemihypertrophy in AD types
Urine draining from umbilicus persistent urachus
Retroperitoneal fibrosis produces hydronephrosis
Bladder extrophy abdominal wall defect + epispadias
Bladder diverticula most commonly due to prostatic hyperplasia with urethral obstruction
Acute cystitis E. coli; females > males; no fever, flank pain, or WBC casts
Bladder transitional cell carcinoma smoking MCC, aniline dyes, cyclophosphamide; papillary
S/S hematuria; hydronephrosis
Bladder adenocarcinoma risk factors persistent urachus, extrophy
Bladder squamous cell carcinoma Schistosoma hematobium infection
Hypospadias ventral opening on penis due to failure closure of urethral folds
Epispadias dorsal opening on penis due to defect in genital tubercle
Peyronie’s disease painful curvature penis due to fibromatosis
Priapism persistent/painful erection; HbSS
Squamous cell carcinoma penis HPV and lack of circumcision most important risk factors
Cryptorchidism undescended testis; risk for seminoma applies to cryptorchid testis and normal testis
Orchitis mumps usually unilateral (infertility uncommon)
Epididymitis <35 - N. gonorrhoeae, C. trachomatis; >35 - E. coli, P. aeruginosa
S/S scrotal pain relieved by elevation of scrotum (Prehn’s sign)
Varicocele left-sided scrotal mass; spermatic vein drains into left renal vein; infertility common
Varicocele may be due to invasion of left renal vein by renal cell carcinoma
Hydrocele persistent tunica vaginalis; scrotum transilluminates
Torsion of testicle testicle high in canal; absent cremasteric reflex
Testicular cancer unilateral painless mass that does not transilluminate
Risk factors cryptorchid testis, Klinefelter’s, testicular feminization
Seminoma MC cancer; radiosensitive; large cells with lymphoid infiltrate; small percentage have ↑hCG
Spermatocytic variant >65 yrs of age
Embryonal carcinoma hemorrhage/necrosis; hematogenous spread before lymphatic; ↑AFP, hCG
Yolk sac tumor MC testicular cancer in boys; ↑AFP
Choriocarcinoma most aggressive testicle cancer; ↑hCG
Teratoma more often benign in children than adult
Teratocarcinoma teratoma + embryonal carcinoma
Malignant lymphoma MC type in elderly; metastasis not primary cancer
Prostate DHT derived stimulation embryo; periurethral area - hyperplasia; peripheral area - cancer
Prostatitis perineal pain, fever; WBCs at end of voiding
Benign prostatic hyperplasia DHT/estrogen-mediated; glandular/smooth muscle hyperplasia
S/S all men develop; urethral obstruction MC (hesitancy, dribbling, nocturia), hematuria, dysuria Rx
Prostate cancer DHT-mediated; palpable with rectal exam; osteoblastic metastasis (↑ AP)
PSA sensitive but not specific for prostate cancer; ↑ in hyperplasia
Kallmann’s syndrome absent GnRH, anosmia, absence of taste
Impotence failure to sustain an erection; psychogenic in most cases (erections present at night)
Erection parasympathetic response
Ejaculation sympathetic response
Leydig cell failure ↑ LH; ↓ testosterone, sperm count; normal FSH
Seminiferous tubule failure ↑ FSH (↓inhibin); ↓ sperm count; normal LH and testosterone
Leydig and seminiferous tubule failure ↑ FSH and LH; ↓ testosterone and sperm count
Y chromosome determines genetic sex
Testosterone develops seminal vesicles, epididymis, vas deferens
Created by: megankirch
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