UWorld_2.27 Flashcards
Fabry disease: inheritance, deficient enzyme, accumulated metabolite, presentation
- X-linked
- alpha-galactosidase
- ceramide trihexoside
- sx
- angiokeratomas
- cardiac and renal involvement
- painful neuropathy
Gaucher disease: inheritance, deficient enzyme, accumulated metabolite, presentation
- AR
- B-glucocerebrosidase
- glucocerebroside
- sx
- gaucher cells = “tissue paper” macs
- hepatosplenomegaly
- developmental delay
Hurler syndrome: inheritance, deficient enzyme, accumulated metabolite, presentation
- AR
- a-L-iduronidase
- dermatan & heparan sulfate
- Sx
- gargoylism
- corneal clouding
- hepatosplenomegaly
- devolpmental delay
Hunter syndrome: inheritance, deficient enzyme, accumulated metabolite, presentation
- X-linked recessive
- iduronidate sulfatase
- dermatan & heparan sulfate
- Sx
- milder hurler syndrome
- gargoylism
- NO corneal clouding
- hepatosplenomegaly
- devolpmental delay
Niemann-Pick Disease: inheritance, deficient enzyme, accumulated metabolite, presentation
- AR
- sphingomyelinase
- sphingomyelin
- sx
- hepatosplenomegaly
- cherry-red macula spot
- foam cells (lipid-laden macs)
- progressive neurodegeneration
Tay-Sachs Disease: inheritance, deficient enzyme, accumulated metabolite, presentation
- AR
- B-hexosaminidase A
- GM2 ganglioside
- sx
- NO hepatosplenomegaly
- cherry-red macula spot
- progressive neurodegeneration
Krabbe Disease: inheritance, deficient enzyme, accumulated metabolite, presentation
- AR
- galactocerebrosidase
- galactosylsphingosine & galactocerebroside
- Sx
- progressive neurodegeneration
- optic atrophy
Metachromic leukodystrophy: inheritance, deficient enzyme, accumulated metabolite, presentation
- AR
- arylsulfatase A
- cerebroside sulfate
- sx
- muscle wasting
- dementia
- ataxia
Pathways ==> lysosomal storage disease
Characteristics of mucormycosis
- opportunistic infection caused by Rhizopus, Mucor, and Absidia species
- ==> paranasl sinus involvement in a diabetic or immunosuppressed patient
- facial or periorbital pain
- H/A
- purulent nasal discharge
- black eschar (necrotic tissue) may be seen @ palate or nasal turbinates
- fungi form broad, nonseptate hyphae that branch at right angles
Candida albicans presentation
- ==> variety of sx in immunosuppressed patients
- ==> R-sided endocarditis, renal abscesses, pneumonia, esophagitis
- budding yeasts and pseudohyphae
Characteristics of aspergillosis
- can involve paranasal sinuses, lungs, etc.
- light microscopy ==> septate hyphae that branch @ 45 degree angle
Dobutamine impact on pressure-volume loop
- ==> increased contractility
- ==> higher pressures during ventricular ejection phase + greater volume expelled
- ==> widening of P-V loop
Gastric secretions
- epithelial layer ==> mucous for protection
- upper glandular layer = parietal cells @ body & fundus ==> gastric acid + intrinsic factor
- deep gastric glands = chief cells ==> pepsinogen
Characteristics of MG
- autoimmune type II, antibody-mediated, hypersensitivy rxn against skeletal myocyte surface acetylcholine receptors
- improves with edrophonium (tensilon) injection = anti-cholinesterase agent
Immune sensitivity types:
- Hypersensitivity pneumonitis
- Goodpasture
- Sarcoidosis
- PSGN
- Contact dermatitis
- Atopic dermatitis
- HP = type III
- Goodpasture = type II
- Sarcoidosis = type IV
- PSGN = type III
- Contact derm = type IV
- atopic = eczema = can involve type I
Conus medullaris syndrome presentation
- lesions @ L2
- ==> flaccid paralysis of bladder and rectum
- impotence
- ==> saddle (S3-S5 roots) anesthesia
- ==> mild weakness of leg m. if adjecent cord/nerves spared
- common causes
- disk herniation
- tumors
- spinal fractures
Cauda equina syndrome presentation
- massive rupture of intervertebral disk ==> compression of 2+/18 nerve root w/in cauda equina
- sx
- low back pain radiating to legs
- saddle anesthesia
- loss of anocutaneous reflex
- bowel/bladder dysfxn (S3-S5)
- loss of ankle-jerk + plantar flexion weakness
Emphysema consequences on PFTs
- destruction of interalveolar walls + decreased elastic recoil ==>
- FVC = normal to low
- Forced expiratory = low
- FEV1/FVC = low
- Total lung capacity = increased
- Fxnl residual capacity = increased ++
- pulm. compliance = increased
- bronchodilator response = none
- DLCO = low
Chronic bronchitis consequences on PFTs
- destruction of interalveolar walls + decreased elastic recoil ==>
- FVC = normal to low
- Forced expiratory = low
- FEV1/FVC = low
- Total lung capacity = normal
- Fxnl residual capacity = increased +
- pulm. compliance = normal
- bronchodilator response = partial response
- DLCO = normal
