1. Friedreich's ataxia:
- Most common type of spinocb ataxia, sx usually onset <22 years of age
- Neurological dysfunction (ataxia, dysarthria) - degen of spinal tracts (spinocb, posterior columns, pyramidal)
- Concentric hypertrophic cardiomyopathy - develops in up to 90%, most common cause of death
- DM
- Skeletal deformities (hammer toes, scoliosis)
- Median survival after disease onset <20 years
2. Raloxifene
- breast and vaginal tissue: antagonizes ER
- bones: agonises ER
- first line for osteoporosis tx.
- Does NOT increase risk of endometrial cancer like tamoxifen does.
- Does increase risk of DVT
3. Liver pathology stages:
- first -- Fatty: short term EtOH
- then -- Alcoholic hepatitis: long term EtOH, mallory bodies, neutrophils, hepatocyte necrosis, perivenular inflammation
- then -- Fibrosis/cirrhosis: regenerative nodules (true cirrhosis - irrev at this point)
All of the above up to regenerative nodules is reversible (even early cirrhosis) with abstinence of alcohol.
4. Immunodeficiences:
- IgA: respiratory infections, giardia
- Complement: C3 - pyogenic respiratory/sinus bacterial infections, C5-8: Neisseria, C1 esterase: hereditary angioedema.
- Phagocytosis: pyogenic (chediak higashi, job, CGD)
5. Untreated HIV with PCP pneumonia:
- Bactrim + steroids (in severe PCP - ie PaO2<70, A-a gradient > 35)
- If cannot tolerate bactrim, can use pentamidine although less effective
- Restar/start HAART after the acute phase of illness has resolved
- PCP usually affects CD4<200 people
6. Scabies - often affects flexor wrist, lateral fingers, finger webs; diagnose with skin scrapings, treat with 5% permethrin cream, or PO ivermectin
7. Living will vs power of attorney: legally, the living well trumps, but if the two are in conflict should discuss with family first and consult ethics if can't find resolution.
8. Postop fever:
- Immediate (hours) preop infection, trauma, transfusion reaction
- Acute (first week): infection, wound infection (GAS/clostridium), MI/DVT/PE
- Subacute (first month): wound infection, catheter infection, drug fever, DVT/PE
- Chronic (>1 month): viral, wound infection due to indolent organisms.
Wind, water, walking, wound, wonder
9. Liver diseases of pregnancy:
- Intrahepatic cholestasis: intense pruritis, worse in palms/soles at night; treat with ursodeoxycholic acid, early delivery to avoid fetal complications. Jaundice rare -- presents warrants further w/u
- Acute fatty liver of pregnancy: rare; hepatitis symptoms (malasie, pain, n/v, jaundice), may progress to liver failure and the complications of liver failure.
- HELLP: pre-eclampsia symptoms; also the lab abnormalities of the acronym (hemolysis, etc)
10. Chlamydia is more common than gonorrhea; they cannot be distinguished clinically; PCR to diagnose. If you have both options on the exam guess the first because its more common.
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