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290 Cards in this Set
- Front
- Back
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Are penicillins bactericidal or bacteriostatic?
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Bactericidal
Only effective against growing organisms |
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What is the mechanism of action for penicillins?
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Cell wall synthesis inhibitors
Specifically the last step of cell wall synthesis 1. PBPs (Penicillin Binding Proteins) allow penicillin to accumulate in bacterium in periplasmic space 2. Penicillin inhibits transpeptidases, interfering with "mesh" formation of cell wall 3. Penicillin stimulates autolysins, resulting in damage to cell wall and lysis of bacterium |
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What are the narrow spectrum penicillins?
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Pen G
Pen V First generation penicillins Beta lactamase sensitive Must be used in higher concentrations to reach therapeutic dose |
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What are the second generation penicillins?
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Beta lactamase resistant
Methicillin (rarely used d/t toxicity) Dicloxacillin Oxacillin Cloxacillin Nafcillin (biliary excretion) Flucloxacillin (reserved for serious infections) |
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What are the broad spectrum penicillins?
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Third generation
Ampicillin Amoxicillin Target gram neg and gram pos Often mixed with beta lactamase inhibitors to avoid resistance |
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What are the extended spectrum penicillins?
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Fourth generation penicillins
Antipseudomonal penicillins Carbenicillin Piperacillin Ticarcillin Pseudomonas infections requires use of one of these PLUS aminoglycoside or ciprofloxacin |
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Why don't some penicillins affect gram negatives?
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Outer membrane prevents entry of some penicillins
Porins in outer membrane allow SOME penicillins to enter |
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What are the side effects of penicillins?
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Allergic reaction (anaphylaxis, angioedema, maculopapular rash)
Diarrhea Nephritis Neurotoxicity with seizures |
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What is the mechanism of excretion for penicillins?
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Renal
Use caution with patients with renal disease Except Nafcillin - biliary excretion |
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What drug is given to patients who cannot take penicillin?
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Erythromycin
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What is the mechanism of action of Cephalosporins?
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Cell wall synthesis inhibitor
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Compare the beta lactamase resistance of Penicillins and Cephalosporins?
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Cephalosporins are more resistant to beta lactamase because of difference in structure
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What are the organisms sensitive to first generation cephalosporins?
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PEcK
Proteus E. coli Klebsiella |
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What are the organisms sensitive to second generation cephalosporins?
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HENPEcK
Haemophilus influenzae Enterobacter aerogenes Neisseria Proteus E. coli Klebsiella |
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What are the organisms sensitive to third generation cephalosporins?
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HENPEcK plus enterics
Haemophilus influenzae Enterobacter aerogenes Neisseria Proteus E. coli Klebsiella Enterics (intestinal bacteria) |
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What type of bacteria is first generation cephalosporin most effective against?
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Some gram neg
MANY gram pos |
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What type of bacteria is second generation cephalosporin most effective against?
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More gram neg
MANY gram pos |
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What type of bacteria is third generation cephalosporin most effective against?
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MANY gram neg
MANY gram pos |
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What type of bacteria is fourth generation cephalosporin most effective against?
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Pseudomonas aeruginosa
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What generation is Cefazolin? Uses?
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First generation
One DOC for skin infections and cellulitis Excellent penetration into bone |
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Name some second generation cephalosporins.
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"gender related issues"
CefaMANdole CeFOXitin CeFURoxime CefoTETan |
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What generation is Cefamandole? Why is it important?
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Second generation
No longer used in US, but common in other places around the world First cephalosporin discovered to cause Disulfiram-like reaction when taken with alcohol Patients of Asian heritage especially prone |
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What is a disulfiram or disulfiram-like reaction?
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When drug is ingested with alcohol
Inhibits aldehyde dehydrogenase Causes buildup of acetaldehyde Flushing Tachycardia Hyperventilation Nausea/Vomiting Palpitations Chest pain Hypotension |
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What is important about Cefuroxime?
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Second generation cephalosporin
Crosses blood brain barrier |
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What is important about Cefoxitin?
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Second generation cephalosporin
Especially active against anaerobes Used in treatment of pelvic inflammatory disease (PID) and intra-abdominal infections |
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What are the third generation cephalosporins?
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"Tough Assassins"
CefTAzidime CefoTAxime CefTriAxone Cefoperazone Ceftizoxime |
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What is important about Ceftriaxone?
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Third generation cephalosporin
Used in patients with renal problems Biliary excretion DOC for Neisseria gonorrhea |
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What is important about Ceftazidime?
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Third generation cephalosporin
Active against Pseudomonas aeruginosa |
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What are the fourth generation cephalosporins?
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"Pseudomonas Insults"
CefePIme CefPIrome |
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Signs of "Classic Pneumonia"
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Sudden onset
Fever Cough Sputum Dyspnea |
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Cause of:
Lobar (Classic) Pneumonia |
Pneumococcus
Klebsiella |
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Cause of:
Bronchopneumonia |
Haemophilus
Pseudomonas |
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Cause of:
Atypical Pneumonia |
Viral
Mycoplasma Most frequent in young adults |
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Cause of:
Legionnaire's Disease (Severe Lobar Pneumonia) |
Legionella
More frequent in elderly No person to person transmission - via water reservoirs |
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What makes atypical pneumonia "atypical"?
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More gradual onset
Dry nonproductive cough Minimal signs of pulmonary involvement on physical exam Prominent extrapulmonary symptoms Prominent chest X-ray ("X-ray looks worse than patient") |
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Benign Lung Tumors
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Adenoma
Leiomyoma Hamartoma Non-smoking related |
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Carcinoid Lung Tumors
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Non-smoking related
Potentially malignant Carcinoid syndrome suggests widespread metastasis |
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Adenocarcinoma of the Lung
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Peripheral
Weakly smoking related |
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Squamous Lung Cancer
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Central
Strongly smoking related Paraneoplastic PTH-like peptide |
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Small Cell Lung Cancer
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Central
Hormone producing Aggressive Smoking related Paraneoplastic ACTH ADH |
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Large Cell Lung Cancer
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Peripheral
Poorly differentiated adenocarcinoma or squamous cell carcinoma Smoking related |
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What are some of the possible complications of lung tumors?
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Pancoast tumor in apex of lung:
Compresses cervical sympathetic chain Horner's syndrome Compression of recurrent laryngeal nerve: Hoarseness Obstruction of superior vena cava: Facial swelling |
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Characteristics of Nephritic Syndrome
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Hematuria
RBC casts Most common: post streptococcal glomerulonephritis |
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Characteristics of Nephrotic Syndrome
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Severe proteinuria
Hypoalbuminuria Hyperlipidemia Edema Most common: Adults: Membranous Glomerulonephropathy Children: Minimal Change Disease |
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Goodpasture's Disease
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Anti-GBM antibodies
Young males Pulmonary hemorrhage |
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Berger's Disease
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IgA nephropathy
Very common Lasts 2-3 days Mild proteinuria and hematuria in children Follows respiratory infection |
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Minimal Change Disease
(Lipoid Nephrosis) |
Most common nephrotic syndrome in children
Insidious onset No immune complexes Loss of foot processes Good prognosis |
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Diffuse Proliferative Glomerulonephritis
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Nephritic/Nephrotic
Post streptococcal, SLE Proliferation of mesangium and epithelium Subepithelial deposits Good prognosis |
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Membranous Glomerulonephritis
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Most common nephrotic syndrome in young adults
Insidious onset Thickening of GBM Subepithelial deposits of immune complexes 85% unknown antigen Poor prognosis |
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Membranoproliferative Glomerulonephritis
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Variable presentation
Young adults Idiopathic GBM thickening Proliferation of mesangium Subendothelial or intra-membranous deposits of immune comoplexes "Tram tracking" Poor prognosis |
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Focal Segmental Glomerulonephritis
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Aggressive variant of minimal change disease
Segmental sclerosis Usually IgM deposits Poor prognosis |
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Rapidly Progressive Glomerulonephritis
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Aggressive variant of any other type
Crescents Oliguria Uremia Poor prognosis |
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Urolithiasis:
Calcium |
80% of cases
Alkaline urine TX: Thiazide Potassium phosphate |
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Urolithiasis:
Mg-NH3-Phosphate ("Triple Stones") |
Staghorn calculi
Urinary tract infections (Proteus) Alkaline urine TX: Antibiotics Acidification |
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Urolithiasis:
Uric Acid |
Gout
Leukemia Acidic urine TX: Bicarbonate |
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Urolithiasis:
Cystine |
Congenital defect in dibasic amino acid transporter
Acidic urine TX: Bicarbonate |
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What is renal colic?
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Excruciating intermittent pain that radiates from flank across abdomen to genital region
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Gonorrhea
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Cause: Neisseria gonorrhoeae
Clinical Features: purulent urethritis TX: Ceftriaxone |
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Trichomoniasis
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Cause: Trichomonas vaginalis
Clinical Features: Men: asymptomatic or non-gonococcal urethritis Women: vaginitis TX: Metronidazole |
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Non-gonococcal Urethritis
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Cause: Chlamydia trachomatis
Clinical Features: urethritis, pelvic inflammatory disease TX: Doxycycline |
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Lymphogranuloma Venereum
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Cause: Chlamydia trachomatis
Clinical Features: painless ulcer, lymphadenopathy TX: Doxycycline |
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Granuloma Inguinale
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Cause: C. donovani
Clinical Features: multiple ulcerating papules, lymph nodes NOT involved TX: Tetracycline |
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Chancroid
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Cause: Hemophilus ducreyi
Clinical Features: painful soft chancre TX: Ceftriaxone |
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Syphilis
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Cause: Treponema pallidum
Clinical Features: painless hard chancre, condyloma lata (flat brown papules), gumma TX: Pen G |
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Condyloma Acuminatum
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Cause: HPV
Clinical Features: "red warts" TX: Cryotherapy |
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Genital Herpes
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Cause: HSV2 or HSV1
Clinical Features: painful recurrent vesicles TX: Acyclovir |
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Key Features:
Seminoma |
Germ cell tumor
Uniform polyhedral Radiosensitive Good prognosis |
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Key Features:
Embryonal Testicular Tumor |
Germ cell tumor
More aggressive Hemorrhage Necrosis |
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Key Features:
Choriocarcinoma |
Germ cell tumor
Highly malignant Gynecomastia |
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Key Features:
Yolk Sac Testicular Tumor |
Germ cell tumor
Most common in children Serum AFP increased Very aggressive |
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Key Features:
Teratoma of Testicle |
Germ cell tumor
Contains multiple tissue types Often malignant |
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Key Features:
Leydig Cell Tumor |
Non-germ cell tumor
Androgens, estrogens, corticosteroids Usually benign |
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Key Features:
Sertoli Cell Tumor |
Non-germ cell tumor
Little or no hormone production |
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Key Features:
Testicular Lymphoma |
Non-germ cell tumor
Mostly in elderly |
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Key Features:
Serous Ovarian Tumor |
Surface epithelium
Cysts Ciliated epithelium |
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Key Features:
Mucinous Ovarian Tumor |
Surface epithelium
Cysts Non-ciliated epithelium |
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Key Features:
Endometrioid Ovarian Tumor |
Surface epithelium
Glandular tissue |
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Key Features:
Clear Cell Ovarian Tumor |
Surface epithelium
Rare Malignant |
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Key Features:
Brenner Ovarian Tumor |
Surface epithelium
Rare Benign Nests of transitional epithelium in stroma |
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Key Features:
Ovarian Teratoma |
Germ cell tumor
Usually mature (benign) |
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Key Features:
Ovarian Dysgerminoma |
Germ cell tumor
Like seminoma Radiosensitive |
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Key Features:
Ovarian Endodermal Sinus Tumor |
Germ cell tumor
Like yolk sac tumor AFP increased |
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Key Features:
Choriocarcinoma (Ovarian) |
Germ cell tumor
Produces HCG |
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Key Features:
Granulosa-Theca Tumor |
Sex cord stroma cell tumor
Estrogens and androgens |
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Key Features:
Sertoli-Leydig Tumors |
Sex cord stroma cell tumors
Androgens Causes masculinization |
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Key Features:
Ovarian Fibroma |
Sex cord stroma cell tumors
Meig's Syndrome Causes ascites |
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Endometrial Polyps
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Excessive bleeding
Rarely malignant transformation |
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Endometrial Hyperplasia
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Excessive bleeding
Premalignant |
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Endometrial Carcinoma
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Usually adenocarcinoma
May be asymptomatic or present with bleeding Risk Factors: Age over 40 Early menarche Late menopause Nulliparity Obesity |
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Key Features:
Hydatidiform Mole |
80% benign
Older pregnant women Uterus larger than expected Grape-like cystic material HCG elevated Due to fertilization of ovum by multiple sperm Complete Mole: No embryo or placenta 46,XX of exclusively paternal origin Partial Mole: Embryo and placenta present Triploid or tetraploid karyotype |
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Key Features:
Choriocarcinoma |
Malignant
Derived from hydatidiform mole (50%), pregnancy (25%), abortion (25%) HCG elevated (higher than hydatidiform mole) |
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Breast Mass:
Fibrocystic Change |
Often bilateral
Multiple nodules Menstrual variation May regress during pregnancy |
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Breast Mass:
Breast Cancer |
Often unilateral
Single Mass No cyclic variation |
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Breast Mass:
Fibroadenoma |
Benign
Single moveable nodule |
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Breast Mass:
Cystosarcoma Phyllodes |
Benign
Rapidly growing May become huge |
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Breast Mass:
Intraductal Papilloma |
Benign
Bloody or serous nipple discharge Nipple retraction |
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Breast Mass:
Ductal Carcinoma |
Malignant
Most common |
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Breast Mass:
Lobular Carcinoma |
Malignant
If receptor positive, better prognosis |
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Breast Mass:
Paget's Disease of Nipple |
Malignant
Older women Poor prognosis |
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Risk factors for breast cancer
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Age >40
Early menarche Late menopause Nulliparity Obesity 5% of women with breast cancer carry BRCA-1 or BRCA-2 genes |
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Deficiency:
Bleeding Gums |
Vitamin C
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Deficiency:
Glossitis |
Vitamin B2
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Deficiency:
Cheilosis |
Vitamin B2
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Deficiency:
Smooth Beefy Red Tongue |
Vitamin B12
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Disease:
Strawberry Tongue |
Scarlet Fever
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Disease:
Koplik's Spots |
White dots on red background in mouth
Measles |
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Organism:
Thrush |
White removable film in mouth
Candida albicans |
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Pulsion Diverticula (Zenker's)
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"False" (mucosa only"
At junction of pharynx and esophagus Dysphagia Rgurgitation |
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Traction Diverticula
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"True" (all layers)
Middle part of esophagus Asymptomatic |
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Layers of GI Tube
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Mucosa
Lamina propria Muscularis mucosa Submucosa Circular muscle layer Longitudinal muscle layer |
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Key Features:
Acute Erosive Gastritis |
Focal damage
Alcohol NSAIDs Stress |
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Key Features:
Chronic Type A Gastritis |
Fundal gastritis
Autoimmune Pernicious anemia Achlorhydria |
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Key Features:
Chronic Type B Gastritis |
Antral gastritis
H. pylori |
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Key Features:
Menetrier's Gastritis |
Thickened mucosa
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H. pylori is associated with:
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Chronic Type B Gastritis
Gastric and duodenal peptic ulcers Carcinoma of stomach |
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Causes:
Toxin Ingestion Gastroenteritis |
Staph. aureus
Clostridium botulinum |
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Causes:
Bacterial Gastroenteritis |
Toxigenic:
Campylobacter (common in US) E. coli Salmonella Invasive: Shigella |
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Causes:
Non-Bacterial Gastroenteritis |
Rotavirus (children)
Parvovirus (adults) Candida Entamoeba histolytica Giardia lamblia |
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Absence of what gene causes familial adenomatous polyposis?
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APC (tumor suppressor)
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Key Features:
Familial Adenomatous Polyposis |
Autosomal dominant
Polyps alone Cancer risk almost 100% |
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Key Features:
Gardner's Polyposis |
Autosomal dominant
Polyps plus skin and bone tumors Cancer risk almost 100% |
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Key Features:
Turcot's Polyposis |
Autosomal recessive
Polyps plus brain tumors Cancer risk high |
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Key Features:
Peutz-Jeghers Polyposis |
Autosomal dominant
Polyps plus melanin pigmentation of palms, soles, lips Cancer risk very low |
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Key Features:
Chron's Disease |
Rectum often spared
Ileum often involved Skip lesions Transmural Granulomas Strictures and Fissures More pain, less bleeding |
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Key Features:
Ulcerative Colitis |
Begins at rectum and progresses toward ileocecal junction
Continuous Mucosa/submucosa only Crypt abscesses Pseudopolyps More bleeding, less pain |
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Complications of Chron's Disease and Ulcerative Colitis:
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Increased risk of colon carcinoma
Toxic megacolon |
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Key Features:
Celiac Sprue |
Toxic/allergic reaction against gluten (gliadin)
Flat mucosal surface Avoid wheat Rice and corn okay |
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Key Features:
Tropical Sprue |
Cause unknown
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Key Features:
Whipple's Disease |
Malabsorption
Anemia Arthritis Tropheryma whippelii PAS positive macrophages found in mucosa TX: Penicillin or Tetracycline |
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Key Features:
Cholesterol Cholelithiasis |
Radiolucent (not seen on plain X-ray)
Often single stone Westerners 4 F's: Fat Female Forty Fertile |
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Key Features:
Mixed Cholelithiasis |
Most common
15% radiopaque (visible on plain film) |
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Key Features:
Pigment (Bilirubin) Cholelithiasis |
Radiolucent (not seen on plain X-ray)
Associated with hemolytic anemia Asians |
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Key Features:
Porcelain Gallbladder |
Calcium deposits in wall
High risk of malignancy Visible on X-ray |
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Key Features:
Strawberry Gallbladder |
Asymptomatic lipid deposits
Not related to cholelithiasis No cancer risk |
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What is Charcot's Triad?
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Signs of cholangitis
Acute onset fever or sepsis RUQ pain Jaundice |
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Key Features:
Gallbladder Cancer |
Female
Cholelithiasis Porcelain gallbladder |
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Key Features:
Bile Duct Cancer |
Male
Chronic infections Liver fluke (Clonorchis sinensis) |
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At what serum bilirubin level does jaundice occur?
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>2mg/dl
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Describe the two types of bilirubin
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Direct = Conjugated (water soluble)
Indirect = Unconjugated (insoluble, bound to albumin) |
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Cause:
Prehepatic Jaundice |
Hemolysis
Unconjugated bilirubin |
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Cause:
Hepatic Jaundice |
Hepatitis
Conjugated and unconjugated bilirubin |
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Cause:
Posthepatic Jaundice |
Cholestasis
Conjugated bilirubin |
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Gilbert Syndrome and Jaundice
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Autosomal dominant
Mild impaired uptake of bilirubin |
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Crigler-Najjar Syndrome and Jaundice
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Autosomal dominant or recessive
Very severe uptake of bilirubin |
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Rotor Syndrome (Rotor Hyperbilirubinemia) and Jaundice
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Autosomal recessive
Impaired hepatocellular secretion of bilirubin |
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Physiologic Jaundice of the Newborn
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2-3 days after birth
Lasts less than one week More severe in premature babies Immature liver enzymes Immature BBB |
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Key Features:
Hepatitis A |
RNA virus
Found in feces Fecal/oral spread 2-6 weeks incubation 0% chronic Acute: IgM Late: IgG |
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Key Features:
Hepatitis B |
DNA virus
Parenteral spread 2-6 months incubation 10% chronic HBs-Ag earliest marker (also indicates carrier state) HBe-Ag indicates infective state |
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Key Features:
Hepatitis C |
RNA virus
Parenteral spread 1-2 months incubation 50% chronic Diagnosis by antibody ELISA |
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Key Features:
Hepatitis D (Delta) |
RNA virus
Parenteral spread Incomplete RNA Requires Hep B virus for replication |
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Key Features:
Hepatitis E |
RNA virus
Fecal/oral spread SE Asia Often fulminant (sudden, acute onset, potentially fatal) in pregnant women |
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What are the two types of Chronic Hepatitis?
|
>6 months
Chronic Persistant Hepatitis: Inflammation limited to Portal Triad Chronic Active Hepatitis: Inflammation beyond Portal Triad Piecemeal necrosis |
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Discuss the important markers in Hepatitis B serology
|
HBe-Ag:
Appears after HBs Disappears before HBs Indicates infectivity HBs-Ag: Appears before onset of symptoms Persists 3-4 months If >6 months, chronic carrier state Anti-HBs-Ag: Appears a few weeks after HBs Indicates recovery and immunity Anti-HBc-Ag: Only marker present during window period (time after HBs disappears but before anti-HBs appears) |
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What drugs cause predictable toxic hepatitis?
|
Predictable based on dose
Acetominophen Amanita Carbon tetrachloride Methotrexate |
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What drugs cause idiosyncratic toxic hepatitis?
|
Severe, dose-independent
Halothane Isoniazid Methyl-dopa |
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|
Key Features:
Alcoholic Cirrhosis |
60%
Early: micronodular Late: macronodular Mallory bodies in acute |
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What are Mallory Bodies?
|
Swollen hepatocytes containing cytoplasmic inclusions of fibrillar protein
Common in alcoholic hepatitis/cirrhosis but not specific |
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Key Features:
Toxin or Viral Cirrhosis |
30%
Macronodular |
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Key Features:
Biliary Cirrhosis |
10%
Micronodular Autoimmune disease Anti-mitochondrial antibodies |
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Key Features:
Wilson's Disease |
Rare
Accumulation of copper Decreased serum ceruloplasmin Cirrhosis |
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Key Features:
Metastatic Liver Carcinoma |
Most common
From breast, lung, colon |
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Key Features:
Hepatocellular Liver Carcinoma |
90% of primary liver carcinoma
HBV and HCV Aflatoxin AFP increased |
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Key Features:
Cholangiocarcinoma |
10% of primary liver carcinoma
More common in Asia (liver flukes) |
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|
Key Features:
Osteoarthritis |
Women > Men
Loss of cartilage Narrowing of joint space Increased density of subchondral bone Osteophyte formation Knees Hips Spine Distal interphalangeal joints* Joint stiffness after inactivity Heberden's nodes (osteophytes at distal interphalangeal joints) |
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Key Features:
Rheumatoid Arthritis |
Women 20-50 yrs
Synovial membrane proliferation (pannus) Erosions of cartilage and subchondral bone Starts in small joints Proximal interphalangeal joints* Metacarpophalangeal joints* Morning stiffness Soft tissue swelling Rheumatoid nodules Rheumatoid factor (anti IgG) |
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What is Still's Disease?
|
Juvenile RA
Acute febrile No rheumatoid factors |
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What is Psoriatic Arthritis?
|
Like RA but no rheumatoid factors
|
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What is Felty's Syndrome?
|
Polyarticular RA
Splenomegaly Leukopenia Leg ulcers |
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Polycystic Kidney Disease
(Infant Type) |
Autosomal recessive
Kidney cysts Liver cysts Fatal (usually rapidly) Present at birth |
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Hemochromatosis
|
Autosomal recessive
Small intestine takes up excessive iron, even with normal diet Hemosiderin deposits in liver, pancreas, heart, skin Results in: Cirrhosis New onset Type-I-like diabetes Cardiomyopathy Bronze-colored skin "Bronze Diabetes" Triad: Cirrhosis Diabetes mellitus Skin pigmentation |
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Chediak-Higashi Syndrome
|
Autosomal recessive
WBCs have abnormal microtubules Faulty cell movement, lysosomal fusion, non-functional granules Clinical findings: Recurrent infections Development of lymphoid cancers Partial albinism (afflicts melanocytes) Neuropathy (affects neurons) Triad: Bacterial infections Viral infections Partial albinism |
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What is important about drug treatment of Pseudomonas?
|
Never treated with monotherapy
Antipseudomonal penicillin or antipseudomonal cephalosporin PLUS aminoglycoside or ciprofloxacin |
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Bernard-Soulier Disease
|
Autosomal recessive
Lack of Glycoprotein Ib- needed for platelet adhesion to Von Willebrand factor Excessive bleeding |
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Glanzmann's Thrombasthenia
|
Autosomal recessive
Lack of Glycoprotein IIbIIIa - needed for aggregation (platelet to platelet adhesion) Excessive bleeding |
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Familial Hypercholesterolemia
|
Autosomal dominant
Abnormal LDL receptor Unable to process cholesterol in liver adequately Early sever atherosclerosis |
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Familial Polyposis Coli
|
Autosomal dominant
Thousands of colon polyps develop Begins before age 35 Colon cancer eventually develops (near 100%) |
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Spherocytosis
|
Autosomal dominant
Defect in spectrin Sphere shaped RBCs RBCs still functional but cause problems with spleen (tries to remove "defective" RBCs, leads to anemia) If anemia is severe, treated with splenectomy |
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Von Willebrand Disease
|
Autosomal dominant
Defect in Von Willebrand factor Prevents optimal function of factor VIII and platelets Leades to excessive bleeding (lack of ability to form clots) Only inherited disorder that affects both arms of clotting mechanism Rare form (Type III VWD) is autosomal recessive |
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Ehlers-Danlos Syndrome
|
Autosomal dominant
Many forms Abnormal collagen and/or elastin Hyperextensible skin and joints Increased risk of valvular disorders |
|
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Marfan Syndrome
|
Autosomal dominant
Fibrillin deficiency Defective microfibrils (critical to connective tissue) Very tall and thin Ectopia lentis (dislocation of lens) Aortic dilatation and aneurysms Arachnodactyly Mitral valve prolapse (most evolve into mitral regurgitation) |
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Achondroplasia
|
Autosomal dominant
Form of dwarfism - proportionally short arms and legs compared to size of head and torso Decreased chondrocyte proliferation in growth plate of long bones Early ossification and fusion of epiphyseal plates (usually before puberty) Short long bones (short limbs and digits) |
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Neurofibromatosis 1
(Von Recklinghausen's Disease) |
Autosomal dominant
Neurocutaneous syndrome (phacomatosis) Neurofibromas (tangles of neuro tissue and fibroblasts - tumor like appearance) Optic nerve gliomas Pigmented nodules in iris (Lisch nodules) Cafe au lait spots (more than 6 should make you suspicious of NF1) Axillary freckling Due to loss of NF1 gene on chromosome 17 |
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Neurofibromatosis 2
(Acoustic Neurofibromatosis) |
Autosomal dominant
Neurocutaneous syndrome (phacomatosis) Bilateral schwannomas Multiple meningiomas Hearing defecits Due to loss of NF2 gene |
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Tuberous Sclerosis
|
Autosomal dominant
Neurocutaneous syndrome (phacomatosis) Hamartomas and benign tumors of brain (brain's surface looks like potato with eyes) Cysts of liver, kidney, pancreas Mental retardation Facial angiofibromas Cutaneous lesions (Shagreen's patches, ash leaf patches) |
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Von Hippel Lindau
|
Autosomal dominant
Neurocutaneous syndrome (phacomatosis) High risk of renal cell carcinoma Capillary hemangiomas in cerebellum and retina Cysts of liver, kidney, pancreas Can have excess erythropoetin, leading to polycythemia |
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Huntington's Disease
|
Autosomal dominant
Becomes symptomatic around 30-40 (variable) Degeneration of caudate nucleus, putamen, frontal cortex Chorea Psychiatric disturbance Cognitive decline Due to trinucleotide repeat of CAG on chromosome 4 More repeats = earlier symptoms Some anticipation |
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Polycystic Kidney Disease
(Adult Type) |
Autosomal dominant
Renal cysts that develop in early adulthood Will progress until renal failure High risk of berry aneurysms (can lead to subarachnoid hemorrhage) Good prognosis with kidney transplant |
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Hemophilia A
|
X-linked recessive
Lack of factor VIII |
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Hemophilia B
(Christmas Disease) |
X-linked recessive
Lack of factor IX |
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Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
|
X-linked recessive
Inability to adequately eradicate radical oxygen species (especially in RBCs) Excess radicals cause hemolysis |
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Fragile X Syndrome
|
X-linked recessive
Structural defects in X chromosome Mental retardation Large ears and jaw In males, macroorchidism (bilateral) Triple repeat of CGG Demonstrates anticipation |
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Fabry Disease
|
X-linked recessive
Sphingolipidosis (all others are autosomal recessive) Decreased alpha-galactosidase A Angiokeratomas (wart-like growths with telangiectasias) Renal failure Lacks severe CNS effects found in other sphingolipidoses |
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Lesch-Nyhan Syndrome
|
X-linked recessive
Deficiency in hypoxanthine-guanine phosphoribosyltransferase (HGPRT) Results in excessive production of uric acid Causes involuntary self mutilation (chewing lips, fingers) |
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Duchenne Muscular Dystrophy
|
X-linked recessive
Lack of dystrophin (protein necessary for normal muscle tone and function) Very high creatine kinase Proximal muscle weakness Eventual muscle atrophy |
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Becker Muscular Dystrophy
|
X-linked recessive
Decreased levels of dystrophin Like Duchenne, but less severe |
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Bruton's Agammaglobulinemia
|
X-linked recessive
Low or absent MATURE B cells (B cells present, but not mature - cannot do their job) Diad: Recurrent severe pyogenic bacterial infections Severely low amount of antibodies |
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Wiskott-Aldrich Syndrome
|
X-linked recessive
B cells not stimulated to produce IgM Classic triad: Otitis media Eczema Thrombocytopenia Associated with IgM dysfunction |
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Chronic Granulomatous Disease
|
X-linked recessive
Granulomas form due to neutrophils and macrophages being unable to eradicate foreign substances (deficient NADPH oxidase - impaired respiratory burst) Triad: Granulomas Recurrent bacterial and fungal infections Yellow NBT test (nitroblue tetrazolium) |
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Hunter's Disease
|
X-linked recessive
Mucopolysaccharidosis (all others are autosomal recessive) Mental retardation Normal corneas |
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Cri du Chat
|
5p deletion
High pitched catlike cry Microcephaly Mental retardation |
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Retinoblastoma
|
13q deletion
Malignant retinal tumor of childhood |
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Prader-Willi Syndrome
|
15q11-13 (paternal) deletion
Severe hypotonicity as infant Obesity Mental retardation |
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Angelman Syndrome
|
15q11-13 (maternal) deletion
Wide gate and ataxia Mental retardation Inappropriate laughter "Lots of smiles" |
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HLA A3
|
Hemochromatosis
("3-iron" - HLA A3 + excessive iron absorption) Bronze skin Diabetes Cirrhosis +/- cardiomyopathy |
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HLA B27
|
Ankylosing Spondylitis
Reactive Arthritis (Reiter's syndrome) Psoriatic Arthritis |
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Ankylosing Spondylitis
|
HLA B27
Sacroiliitis Bamboo spine Uveitis |
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Reactive Arthritis
(Reiter's Syndrome) |
HLA B27
Conjunctivitis Urethritis Arthritis |
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Psoriatic Arthritis
|
HLA B27
Psoriasis Rheumatoid arthritis-like symptoms No rheumatoid factor |
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HLA DR2
|
Narcolepsy
Multiple sclerosis Type I diabetes |
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Narcolepsy
|
HLA DR2
Sleep attacks Cataplexy Sleep paralysis |
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Multiple Sclerosis
|
HLA DR2
Nystagmus Scanning speech Intention tremor |
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Type I Diabetes
|
HLA DR2, DR3
Hyperglycemia Risk of DKA Infections Later: Retinopathy Nephropathy Atherosclerosis |
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HLA DR3
|
SLE
Type I Diabetes Celiac disease "DR3, SLE, give the insulin to me" (plus diarrhea) |
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SLE
|
HLA DR3
Malar rash Nephropathy Arthritis |
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Celiac Disease
|
HLA DR3
Malabsorption Gluten sensitivity Steatorrhea |
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HLA DR4, Dw4, Dw14
|
Rheumatoid Arthritis
Juvenile Rheumatoid Arthritis "4 criteria for RA... DR 4, Dw4, Dw14" |
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Rheumatoid Arthritis
|
HLA DR4, Dw4, Dw14
7 criteria needed for diagnosis (Jones criteria) Juvenile RA: Under 16 RA-like arthritis No rheumatoid factor |
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Most Common Cause:
Amenorrhea |
Pregnancy
|
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Most Common Cause:
Pancreatitis |
Alcohol abuse
|
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Most Common Cause:
Anemia |
Iron deficiency
|
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Most Common Cause:
Nephrotic Syndrome |
Children: Minimal change disease
Adults: Membranous glomerulonephritis |
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Most Common Cause:
Osteomyelitis |
Staph aureus
Diabetic/Sickle Cell Disease: Salmonella species IV drug users: Serratia and Pseudomonas aeruginosa |
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Most Common Cause:
Constipation |
Dehydration
|
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|
Most Common Cause:
Kidney Stones |
Dehydration
|
|
|
Most Common Cause:
Pneumonia |
Strep pneumonia
|
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|
Most Common Cause:
Ascites |
Alcoholic cirrhosis
|
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|
Most Common Cause:
Death |
Heart disease (in US)
|
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|
Most Common Cause:
Male Pseudohermaphrodism |
Testicular feminization
|
|
|
Most Common Cause:
Female Pseudohermaphrodism |
Adrenogenital syndrome (congenital adrenal hyperplasia)
|
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|
Most Common Cause:
Calf Claudication |
Peripheral vascular disease (PVD)
|
|
|
Most Common Cause:
Left-sided Heart Failure |
Coronary artery disease (CAD)
|
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|
Most Common Cause:
Atherosclerosis |
Elevated LDL cholesterol
|
|
|
Most Common Cause:
DVT |
Blood stasis (especially in late pregnancy and after surgery or prolonged immobility)
|
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|
Most Common Cause:
Wheezing |
Asthma
|
|
|
Most Common Cause:
Cold |
Fall/winter: Rhinovirus
Spring/summer: Adenovirus |
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|
Most Common Cause:
Bronchiectasis |
Cystic Fibrosis
|
|
|
Most Common Cause:
Pleural Effusion |
CHF
|
|
|
Most Common Cause:
Pulmonary Edema |
CHF
|
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|
Most Common Cause:
Septic Shock |
Gram negative bacteria
|
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|
Most Common Cause:
Poisoning (in US) |
Carbon monoxide
|
|
|
Most Common Cause:
Iron Deficiency (older than 50) |
Colon cancer
|
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|
Most Common Cause:
Vomiting |
Viral infection
|
|
|
Most Common Cause:
Hematemesis |
Duodenal ulcer
|
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|
Most Common Cause:
Hematochezia |
Diverticulosis
|
|
|
Most Common Cause:
Melena |
Duodenal ulcer
|
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|
Most Common Cause:
Acute RLQ Pain |
Appendicitis
|
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|
Most Common Cause:
Acute Infectious Diarrhea |
Norovirus
|
|
|
Most Common Cause:
Small Bowel Obstruction |
Adhesions
|
|
|
Most Common Cause:
Erectile Dysfunction |
Diabetes
|
|
|
Most Common Cause:
Hyperthyroidism |
Graves' Disease
|
|
|
Most Common Cause:
Hypothyroidism |
Hashimoto's Disease
|
|
|
Most Common Cause:
Yellow CSF (Xanthochromia) |
Bleed in CNS
|
|
|
Most Common Cause:
Acute Onset Coma |
Poisoning or drug overdose
|
|
|
Most Common Cause:
Blindness (in Elderly) |
Macular degeneration
|
|
|
Most Common Cause:
Tremor |
Essential tremor
|
|
|
Most Common Cause:
Dementia |
Alzheimer's Disease
|
|
|
Most Common Cause:
Psychosis |
Depression
|
|
|
Most Common Cause:
Headache |
Tension headache
|
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|
Classic Triad:
SLE |
Malar rash
Lupus nephropathy Arthritis |
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|
What types of hypersensitivity are involved in SLE?
|
Type II
Type III |
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What body regions are most affected by SLE?
|
Skin
CNS Kidneys Joints |
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What autoantibodies are used to test for SLE?
Other tests? |
Sesitive:
ANA Specific: Anti-DS DNA (preferred - more specific) Anti-Smith (anti-Sm) Other: LE Cell test VDRL (false positive - anticardiolipin antibodies - used for syphilis) |
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What is the most common race and gender affected by SLE?
|
Black women
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WHO Class II Lupus Nephropathy
|
Mesangial disease
Most common and mildest lupus nephropathy Transient proteinuria Proliferation of mesangial matrix and mesangial cells |
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WHO Class III Lupus Nephropathy
|
Focal proliferative nephritis
Focal = less than 50% of glomeruli affected, only a portion of each glomerulus affected Proteinuria Hematuria Proliferation of mesangial cells and matrix Endothelial proliferation Focal lesions |
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WHO Class IV Lupus Nephropathy
|
Diffuse proliferative nephritis
Most severe lupus nephropathy Nephrotic syndrome Gross hematuria Proliferation of mesangium, endothelium, and epithelium +/- Crescent formation Diffuse lesions Subendothelial immune complex deposits Renal failure Hypertension |
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WHO Class V Lupus Nephropathy
|
Membranous glomerulonephropathy
Nephrotic syndrome Endothelial thickening Subepithelial immune complex deposits |
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Hugh's Syndrome
(Anti-phospholipid Antibody Syndrome) |
Have antiphospholipid antibodies (but is not SLE)
Hypercoagulable May cause multiple spontaneous abortions |
|
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CREST
|
Focal sclerosis
Calcinosis Raynaud's Esophageal dysmotility Sclerodactyly Telangiectasia |
|
|
Progressive Systemic Sclerosis (PSS)
(Scleroderma) |
Visceral organ fibrosis
Facial tightening Sclerodactyly |
|
|
Sjogren's Syndrome
|
Autoimmune destruction of lacrimal and salivary glands
Xerostomia Keratoconjunctivitis sicca Arthritis |
|
|
4 Major Classifications of Immunodeficiency
|
Phagocyte disorders
Humoral immunity disorders Cell mediated immunity disorders Combined B-cell and T-cell disorders |
|
|
Phagocyte Disorders
|
Job's syndrome
Chediak-Higashi syndrome Chronic granulomatous disease |
|
|
Disorders of Humoral Immunity
|
Bruton's agammaglobulinemia
IgA deficiency Common variable immunodeficiency |
|
|
Disorders of Cell-Mediated Immunity
|
DiGeorge Syndrome (thymic aplasia)
Chronic mucocutaneous candidiasis Hyper-IgM syndrome |
|
|
Combined B-Cell and T-Cell Disorders
|
Severe combined immunodeficiency (SCID)
Wiskott-Aldrich syndrome Ataxia-telangiectasia |
|
|
Neutropenia
|
Acquired immunodeficiency
Due to leukemia or chemotherapy Results in pyogenic bacterial infections |
|
|
How does malnutrition lead to immunodeficiency?
|
Inadequate protein consumption means that immune proteins (antibodies, complement) cannot be made
|
|
|
Job's Syndrome
|
Deficient gamma-interferon
Triad: Sinopulmonary infections Candidiasis Cold abscesses |
|
|
IgA Deficiency
|
IgA-producing plasma cells fail to develop
Triad: Bacterial infections of mucus membranes Possible anaphylaxis to transfused blood Reduced levels of IgA |
|
|
Common Variable Immunodeficiency (CVID)
|
Abnormal B cell maturation
Triad: Recurrent pyogenic bacterial infections Normal number of B cells Decreased levels of antibodies |
|
|
DiGeorge Syndrome
(Thymic Hyperplasia) |
Defect in third and fourth pharyngeal pouches
Developmental failure of thymus and parathyroids Triad: Profound defecits in T cells Severe recurrent viral, fungal, and protozoal infections Tetany and hypocalcemia |
|
|
Chronic Mucocutaneous Candidiasis
|
Inability of T cells to destroy Candida albicans
Chronic candidiasis Normal T cell numbers |
|
|
Hyper-IgM Syndrome
|
Inability of B cells to class switch from IgM to IgG production
Severe, recurrent pyogenic infections |
|
|
Severe Combined Immunodeficiency (SCID)
|
Multiple Pathologies:
1) IL-2 receptor defect on CD4 and CD8 cells 2) T cell secondary messenger system defect 3) Defect in T cell ability to interact with APCs 4) Absence of adenosine deaminase (ADA) resulting in increased dATP and decreased DNA production (severely decreases T and B cell production) 5) Defective class I and/or II MHC Recurrent bacterial, viral, fungal, protozoal infections Low antibody levels No lymph nodes Most common infection is Pneumocystis pneumonia |
|
|
Ataxia-Telangiectasia
|
Deficient DNA repair enzymes
Results in T and B cell deficiencies Ataxia Telangiectasia Recurrent infections (esp. of sinopulmonary regions) Increased malignancy risk Low T cell numbers Significant IgA deficiency |
|
|
HIV
|
Destroys CD4 T cells
Transmitted via blood, semen, vaginal secretions, breast milk 2 serotypes: HIV-1 (predominant) HIV-2 |
|
|
What are the three stages of HIV?
|
Acute:
3-4 weeks to develop anti-HIV antibodies Symptoms of "generalized viral syndrome" Latent: Asymptomatic Advanced Symptomatic Infection: AIDS |
|
|
What are the clinical parameters for AIDS?
|
Positive HIV test and any of the following:
1) Less than 200 CD4 T-cells per microliter 2) AIDS-defining opportunistic infections (Pneumocystis pneumonia, Toxoplasmosis, CMV retinitis, Mycobacterium avium complex, progressive multifocal leukoencephalopathy, cryptococcal meningitis) 3) AIDS-associated malignancies (Kaposi's sarcoma, brain lymphoma, invasive cervical cancer, certain non-Hodgkin's lymphomas) 4) HIV-complicating infections (HIV encephalopathy, extrapulmonary TB, chronic isosporiasis or cryptosporidiosis, disseminated histoplasmosis, chronic or pulmonary HSV, disseminated coccidiomycoses, esophageal or respiratory candidiasis) |
|
|
What are the direct complications of HIV infection?
|
Due to direct effects of HIV
Fever Weight loss Cachexia Night sweats |
