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49 Cards in this Set
- Front
- Back
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XLR dystophin dsx
Boys 3-7yo M wknss, lots of CK, fatty depoits in calves Gower’s sign (walk hands toward feet) Die by 20yo |
DMD
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Milder DMD?
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Becker’s
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AD, 20-30yo
Can’t relax m’s or grip +/- MRtdn, blindness, gonad atrophy |
Myotonic dystrophy
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Treat simple or complex partial Sz or tonic/clonic Sz with (3)
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Phenytoin
Valproate Carbamazepine PVC! |
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Treat absence Sz with? (2)
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Ethosuxamide
Valproate |
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Vit defcy causing periph neuropathy, confusion, ophthalmoplegia, nystagmus, delirium, dimentia?
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B1
Thiamine |
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Vit defcy causing vision loss?
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Vit A
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Vit defcy causing peripheral sensory neuropathy?
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B6
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Vit defcy causing dementia, periph neuropathy, loss of PosVib in lwr extr, ataxia, spasticity, hyperreflexia, +Babinski’s?
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B12
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Vit defcy causing loss of PropVib, areflexia, ataxia, gaze palsy?
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Vit E
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Which Hypersensitivity Type has:
Rxn 2/2 preformed IgE Release of vasoactive amines (HMN + LTs) |
Type I
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Examples of anaphylaxis?
(4) |
Bee stings
Meds (PCN, Sulfa) Food allergy Latex glove |
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Examples of Type I Hypersensitivity?
(6) |
Anaphylaxis
Atopy Hay Fever Urticaria Allergic rhinitis Some asthma types |
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Pt with eosinophilia, high IgE, FHx, seasonal exacerbations.
+/- allergic shiners, transverse nasal crease +/- Pale blue nasal turbinate’s +/- many eos in clear nasal secretions |
Chronic Type I Hypersensitivity
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Tx systemic anaphylaxis with?
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Secure AW (intubate or cricothryrotomy)
SQ > IV Epi ‘roids (help later on) |
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Pt has diffuse swelling of lips, eyelids, +/-AW or bowel.
Independent of allergen xpsr AD inheritance! |
C1Esterase Defcy!
Low C4 Tx like anaphylaxis, then give androgens to increase liver prodn of C1Esterase |
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Which Hypersensitivity Type has:
Preformed IgG and IgM Secondary inflmn |
Type II
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Examples of Type II Hypersensitivity?
(10: AEG2HIMP2T) |
AIHA
Erythroblastosis fetalis Goodpasture’s Grave’s Hyperacute transplant rejxn ITP MG Pemphigus Pernicious anemia Transfusion rxns |
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Which Hypersensitivity Type has:
Deposits of Ag-AB complexes |
Type III
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Examples of Type III?
(7: CGHLPRS) |
Cryoglobulinemia
Glomerulonephritis Chronic hepatitis Lupus PAN RA Serum sickness |
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Which Hypersensitivity Type has:
Sensitized T cells releasing inflammatory mediators? |
Type IV
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Examples of Type IV?
(4: CGTT) |
Contact dermatitis
Granulomas TB skin test Chronic transplant rjxn |
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HIV pt:
CD4 <350? |
Start antiretroviral tx (or sooner)
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HIV pt:
CD4 <200 |
PCP prophylaxis w/TMP-SMX or pentamidine
Pt is now considered to have AIDS |
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HIV pt:
CD4 <100 |
MAC prophylaxis w/ Azitrho, clarithro, or rifabutin
Crypto and Candida prophy w/ fluconazole |
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Only live vaccine given to HIV pts?
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MMR
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Ring enhancing or nodular lzn in MRI of immunosuprsd pt?
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Toxoplasmosis
Cystercercosis (LtAm) |
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Other vaccines for HIV pts?
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Pneumovax
Hep B Inactvd polio (no PO polio!) Flu |
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Classic AIDS assoc’d malignancies?
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Kaposi’s sarcoma
NHL (esp 1° B cell) |
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Okay for HIV+ mom to breastfeed?
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NO!!
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Adult pt with thrush? Think of:
(3) |
HIV
Leukemia DM |
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Diarrheal infxns unique to HIV pts? (2)
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Crytosporidium
Isospora spp |
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Which 1° immunodefcy has:
Recurrent respiratory of GI infxns Low IgA +/- low IgG2 +/- anaphylaxis after given IVIg |
IgA defcy!
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Which 1° immunodefcy has:
Low/no B cells Infxns start at 6mos Recurrent lung/sinus infxns Esp w/ Hemophilus and Strep |
X-linked (Bruton’s) agammaglobulinemia
(XLR) |
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Which 1° immunodefcy has:
HoPlasia of 3rd & 4th pharyngeal pouches HoCa + tetany in 1st 24-48 hrs +/-HoPlastic/no thymus +/- congenital heart defects |
DiGeorge
No PTH, maybe no thymus |
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Which 1° immunodefcy has:
B & T cells defects Svr infxns early on +/- cutaneous anergy +/- dysplastic/no thymus & LNs Maybe from ADA defcy |
SCID
(AR or XL) |
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Which 1° immunodefcy has:
Affects males Eczema, thrombocytopenia, recurrent infxns (usu resp) |
Wiskott Aldrich
(XLR) |
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Which 1° immunodefcy has:
Less NADPH oxidase axn Recurrent infxns w/ cat+: Staph aureus + Pseudomonas +nitroblue tetrazolium test +superoxide prodn test Usu males |
CGD
(XLR) |
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Which 1° immunodefcy has:
Giant granules in NPs Oculocutaneous albinism Defect in microtubule polymerzn |
Chediak-Higashi
(AR) |
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Which 1° immunodefcy has:
Recurrent Nesseria infxns Lack of specific C’ |
C’ defcy
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Which 1° immunodefcy has:
Candidal thrush Scalp, nail, skin infxns Anergy to Candida spp +/- HoTH Rest of immune fxn is intact |
Chronic mucocutaneous candidiasis
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Which 1° immunodefcy has:
Recurrent Staph infxns (esp skin) Very high IgA lvls Often pt has fair skin, red hair, eczema |
Hyper IgE syndrome
Job-Buckley syndrome |
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AD diseases?
(12: A2F2H2M3NTV) |
Achondroplasia
APCKD Familial HXOLemia Familiar polyposis coli Hereditary Spherocytosis Huntington’s Marfan’s MEN I + II Myotonic dystrophy NF Tuberous Sclerosis vW disease |
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Pt with:
HoPigmented skin macules Facial angiofibromas Sz MRtdn CNS hamartomas Rhabdomyomas Renal tmrs Has…? |
Tuberous sclerosis
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AR diseases?
(11: A2C2G2HMS2W) |
Adrenogenital syndrome (21-OH)
Amino acid disorders CPCKD CF Galactosemia Glycogen storage dz Hemochromatosis Mucopolysaccharidoses (not Hntr) SCD Sphingolipidoses (not Fabry’s) Wilson’s dz |
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XLR diseases?
(10: B2F2GH2LW) |
Bruton’s agammaglobulinemia
Becker’s MD Duchenne’s MD Fabry’s Fragile X G6PD defcy Hemophilia Hunter’s Lesch-Nyhan Wiscott-Aldrich |
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t21 kids are at greater risk for:
(11) |
Leukemia
Duodenal atresia Hirschsprung’s Celiac dz HoTH Obstructive sleep apnea GERD URI Infertility Vzn problems Early AD |
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Which trisomy has:
f>m SGA Small head HoPlastic mandible Low set ears Clenched fist – index over 3rd&4th MRtdn |
t18
Edward’s |
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Which trisomy has:
Apnea Deafness Holoprosencephaly Myelomeningocele CV abn Rocker bottom feet MRtdn |
t13
Patau Don't forget: D-E-P 21-18-13 |
