7 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... Poor suckling -> Neonatal ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Erythematosus (SLE) Clinical ... Disease, PRES Pathophysiology ... autoantibodies that will cause ... CNS #neurology #rheumatology ... cerebritis #diagnosis #management
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Drug Induced Lupus vs SLE
Drug Induced Lupus (DIL):
 • Epidemiology: -10% of all lupus cases, drug-dependent,
to 1:1 F:M • Clinical ... Constitutional symptoms ... constitutional symptoms ... 40, F:M 9:1 • Clinical ... comparison #table #rheumatology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... renal failure Clinical ... skin (16-32%): lupus ... Sarcoidosis #Diagnosis #Management
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Drug Induced Lupus (DIL)
 • Epidemiology: -10% of all lupus cases, drug-dependent, 4:1 to 1:1 F:M
to 1:1 F:M • Clinical ... Constitutional symptoms ... constitutional symptoms ... #DIL #rheumatology ... diagnosis #treatment #management