microtubule polymerization defect so less fusion of phagosomes and lysosomes

recurent pyogenic infections, partial albinism, peripheral neuropathy

Granulomatous diseases:

collection of macrophages that release TNF-a --> form granulomas

tx: Influximab - but must do TB skin test before tx

mycobacterium tb

Fungal infections - histoplasmosis

Treponema pallidum

M. leprae

Bartonella henselae

Sarcoidosis

Crohn's disease

Beryliosis

Foregin bodies

Chronic granulomatous dz

Wegner granulomatosis

excessive fibrosis and collagen deposition- fingers/face

anti-Centromere Ab

Calcinosis, Raynaud phenom, Esophageal dysmotility, Sclerodactyly, Telangiectasia

dx: Inc serum IGF-1

tx: Pituitary resection & octreotide

1. Exogenous steroid use; Dec ACTH

2. Ectopic ACTH - small cell lung CA; Inc ACTH

3. Cushing dz- ACTH secreting pituitary tumor; Inc ACTH

4. Cortisol prod adrenal tumor; Dec ACTH

Determines cause for Inc Cortisol

ACTH-pituitary tumor: Low cortisol only with HIGH dex

Ectopic ACTH tumor: always HIGH cortisol; High ACTH

Cortisol-prod tumor: always HIGH cortisol; Low ACTH 

Aldosterone secreting adrenal tumor

Conns syndrome = LOW renin

HTN, HYPOkalemia, Met Alkalosis

tx: surgical removal or spironolactone/eplerenone

Kidneys percieve low blood vol --> activate RAAS

HIGH Renin, HTN, HYPOkalemia, Met Alkalosis

caused by: renal artery stenosis, CHF, low protein

tx: surgical removal or spironolactone/eplerenone

Pheochromocytoma

Renal Cell Carcinoma

Hemangioblastoma

Hepatocellular carcinoma

Pheochromocytoma

Benign, unilateral, inside adrenal gland, not calcify, adults, sporadic

Neurofibromatosis-1, MEN2A, MEN2B

dx: check urine/blood for catecholamine degradation prod: Metanephrine, Normetanephrine, HVA, VMA

This tumor secretes: EPO

tx: non-selective a-antagonist = Phenoxybenzamine

never give a B-blocker alone, must always give a-blocker

Ultimately --> SURGERY

MC adrenal medulla tumor- Child

HVA in urine/serum

N-myc oncogene, Bombesin stain, Neurofilament stain, Homer Wright pseudorosettes

Host T cell sensitization aganist graft

1 week - months after transplant

dense infiltrates of mononuclear cells (T-cells)

prophylaxis prevention: Calcineurin inhibitors (cyclosporine or tacrolimus)

acute tx: systemic corticosteroids + above med

Thalamic syndrome

can be caused by lacunar infarcts

vascular lesion of thalamus - VPL & VPM

complete CONTRAlateral sensory loss (LE, UE)

proprioceptive defects- unsteady gait & falls

INTACT motor function

small 5-6mm cavities located in basal ganglia, internal capsule posterior limb, pons, cerebellum

caused by Liphyalinosis & Microatheromas from HTN & DM2

Bifid carotid pulse with brisk upstroke

(spike and dome)

phenylalanine hydroxylase deficiency

Tyrosine is Essential- must be supplemented in diet

Sx: severe mental reatardation, growth retardation, seizures, FAIR skin, MUSTY (mousy) odor

tx: Dec phenylalanine intact (no aspartame); Inc Tyrosine

Sx: homeless, alcoholic (bc usually they drink this bc they cannot afford EtOH), vomit, oliguria, anorexia, flank pain, HIGH Anion-gap ACIDosis,

Kidnyers: Ca Oxalate kidney stones, ballooning & vaculolar degeneration, damaged PCT

Dec Vitamin D absorption & other Fat vitamins and Vitamin B12;

Low Vit D --> Low Ca, Low Phos, High PTH (to inc Ca)

Serum: Low Ca, Low Phosphorous

High PTH bc trying to increase Ca levels

Bone pain

Result of pulmonary artery HTN

Acute: Dilation of RV

Chornic: Hypertrophy of RV

Fe- duodenum

Folate- Jejunum

B12- Ileum; needs BIle acids & Intrisic factor

Fenluriamine, Dexfenfluiamine, Phentermine

if used for > 3mos it can cause 2ndary pulmonary HTN

Sx: pulmonary HTN: extertional dyspnea, exertional syncope

Reed Sternberg cells: CD30, CD15

single group of nodes; constitutional B signs/Sx; EBV

Inc RS, Poor prognosis

Older males; t(11;14) overexpression cyclin D1 regulatory gene--> cells go straight into S phase --> division

CD5+ B cells

Monoclonal plasma cells; Histo: Fried egg appearance of plasma cells; bone marrow cancer; lots of IgG; MC primary bone tumor in older ppl

Punched out lytic bone lesions on xray; IgG M spike on protein electrophoresis; Ig light chains in urine electrophoresis (Bence Jones protein); No proteinuria on regular urinalysis; Plasma cells with "clockface chromatin"

<15yo old; can have bone marrow invovlement in childhood; bone marrow is replaced by lymphoblasts;

TdT+, CALLA+; therapy responsive; t(12;21);

Down Syndrome, PAS+, Bone pain

tx: 6-Mercatopurine

30-60yo; Philadelphia chromosome t(9;22), bcr-abl; Inc neutrophils, Inc metamyelocytes, Inc basophils; spenomegaly; LOW leukocyte alkaline phosphatase

tx: Imatinib- inhibits bcr-abl tyrosine kinase

Due to: Traumatic mechanism

1. microangiopathic hemolytic anemia- HUS, TTP, DIC, malignant HTN, metastatic carcinoma

2. Mechanical damage- prosthetic valve, severely calcified valves.

Factor V Leiden mutation or Prothrombin gene mutation

Activated Protein C resistance = Factor V mutation

Lupus anticoagulant

this is High in Anti-phospholipid syndrome

Vitelline veins = Portal system

Cardinal veins = Systemic circulation

Umbilical veins = disappear

2nd most common- good prognosisl uniform follicles;

RET oncogene

Reiter Syndrome

(Reactive arthritis)

classic triad: Conjunctivitis/anterior uveitis, Urethritis, Arthritis

"Cant see, Cant pee, Cant climb a tree"

Asymmetric Inflammatory Arthritis- men 20-40yo

Occurs after GI infection or Chlamydia infection; HLA-27; Negative Rheumatoid factor;

can cause Sacroiliitis

chemotaxis that draw macrophages to area of infection:

 C5a, IL-8, LTB-4 (CIL)

DSM4- excessive and uncontrolled worry about multiple issues that is accompanied by irritability, disturbed sleep, poor concentration, muscle tension, esay fatigue, restlessness

3+ non-worry Sx mus be present

>6months

tx: benzodiazepines (short-term use), SSRI (paroxetine, sertraline), buspirone

Central Scotoma

scotoma= visual defect surrounded by relatively unimpaired field of vision (retina/optic nerve damage)- multiple sclerosis, diabetic retinopathy, retinitis pigmentosa

MC cause of blindness >50yo in USA

progressive loss of central vision due to deposition of fatty tissue (drusen) behind the retina and neovascularization of retina

Most Freq Genetic Cause of Renal Failure in Adults. adult onset in 40-50yo. cystic kidneys & liver. homorgenous and clearly outlined masses on CT.

pain, abd pain, hematuria & proteinuria; will need dialysis by 75yo;

posterior branch; injured from poor fitted crutches or mid shaft humeral fracture; Radial n injury causes poor extension of wrist/forearm (wrist drop); radial n and deep brachial artery can be injured from mid-humeral shaft;

Glioblastoma= most common; stain astrocytes for GFAP

Meningioma- 2nd MC; convexities of hemisphere; from arachnoid cells external to brain

occurs when High Free Fatty acids

& Beta cell disfunction

the changes seen in the neuronal body after the axon is severed from cell body.

cellular edema- rounding, swollen; nucleus shoved to side of cell; Nissel substance becomes fine and granular and dispersed throughout the cytoplasm;

these changes reflect the INC syn of protein as a effort to regenerate the severed axon.

Paraneoplastic syndrome

Think this when: lung mass & cerebellar cell degeneration

substances prod from tumor cells prod an autoimmune response- the Ab prod against the tumor cells begin to cross-react with own body.

Paraneoplastic cerebellar degeneration- develops from lung, ovary, breast

Asbestos- calcified lesions (pleural plaques), Lower lung & diaphragm;

Silica- Nodular densities & eggshell calcifications- Hilar

Coal dust- mutliple discreete nodules, Upper lung, no pleural plaques

Carcinoma Intraepithelial Neoplasia (CIN) - due to HPV

Low risk HPV= 6,11, condylomata acuminata (genital warts), low malig potential;

High risk HPV= 16,18,31,33, integrated into human cell genome causing overexpression of E6, E7.

E6-blocks p53;  E7-blocks Rb

Most important risk factor for cervial cancer is hx of multiple sexual partners

Toxoplasmosis infection;

cat= definitive host; Sx: encephalitis, multiple necrotizing brain lesions on MRI;

tx: Pyrimethamine & Sulfadiazine

Toxoplasmosis & primary CNS lymphoma

EBV can cause the primary CNS lymphoma; B-cell type of CNS lymphoma

Latent EBV is highly assoc w AIDS-related primary CNS lymphoma

Medium sized arteries --> Coronary artery aneurysm;

Sx: Fever, B/l conjunctivitis; lymphadenopathy, desquamation of hands/feets, edema, Strawberry tongue, rash

forceful external rotation and abduction of arm at the shoulder; fall on outstretched hand; head of humerous is anteriorly displaced; flattened deltoid prominence, protrusion of acromium, ant axillary fullness; Axillary n is hurt

Axillary n-  deltoidm, teres minor m

Deposition of hemosiderin

Sx: Cirrhosis, DM, Bronze skin

tx: phlebotomy & deferoxamine

can occurs from many transfusions

Heart murmurs that Inc with Valsalva & standing

"Asymptomatic young athlete that has sudden MI"

Meckels Diverticiulum

The FIVE 2's

1. Omeprazole - PPI

2. Surgical removal

Wernicke's encephalopathy

alcoholic

Thiamine deficiency = B1

give THIAMINE, do NOT give glucose

Inc Thyroid-Binding-Globulin  (TGB)

Inc TOTAL thyroid horomes - so it can bind with TBG

Normal levels Free thyroxine

DEC TSH

Irritation of Flexor Tendon sheath (synovitis)

"Trigger finger"

causes by irritation, trauma, diabetes, RA

Von Willebrand disease

Von Willebrand Factor- tethers platelets to the damaged endothelium & binds to factor 8 to prevent its degradation from Protein C

Low levels of vWF --> Factor 8 is not protected so Protein C degrades it --> Not able to clot

MC inherited bleeding disorder; Inc BT, Inc PTT

Sx: excessive bruising, epistaxis- late childhood; 

tx: Desmopressin- causes endothelial cells to release their stores of vWF & Factor 8

SE of desmopressin: since it acts like ADH, it causes retention of water --> hyponatremia

t(14;18) = follicular lymphoma

bcl-2 normally inhibits apoptosis, so when it gets translated from 18-->14 the gene causes inhibits tumor cells from apoptosis --> INC tumor cells

Capitation- physicians are paid a fixed amt per enrollee, not per service; drs are motivated to provide MORE PREVENTIVE CARE

Fee-For-Service: PHysicians are paid a fixed amt for each service/test;little financial risk, drs are enticed to increase the number of tests/services

Discounted-Fee-For-Service: similar to FFS, but physician is reimbursed a discounted amt; drs are more conservative about ordering tests.

SAlary: drs are paid a fixed amt; their pay is independent from amt of patients or services given.

Can cause Hypothyroidism

monitor lithium levels, TSH, BUN, Cr