16 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... the lab values table ... , UpToDate #Pediatrics ... #Diagnosis #Algorithm ... #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... from UpToDate and Pediatrics ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Hypereosinophilia and Hypereosinophilic Syndrome

 • Secondary Hypereosinophilic Syndrome
 • Clinically Relevant HES Variants
 • When to
Clinically ... disorders • Diagnosis ... and Treatment Algorithm ... #HES #Hematology ... #management #algorithm
Myositis Specific Antibodies (MSAs)

Dermatomyositis: MDA5, TIF1y, NXP2, Mi-2, SAE
Anti-Synthetase Syndrome: Jo-1, PL7, PL12, EJ, OJ
Immune Mediated
Anti-Synthetase Syndrome ... Antibodies #MSAs #clinical ... #diagnosis #rheumatology ... #table
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Erythematosus (SLE) Clinical ... Demyelinating Syndrome ... Disease, PRES Pathophysiology ... permeability Diagnosis ... CNS #neurology #rheumatology
TRALI vs TACO - Transfusion Reactions
TRALI:
 • Epidemiology: 0.1% of transfused patientsl
 • Risk factors: Critical
Risk factors: Critical ... blood donor • Pathophysiology ... transfusion • Pathophysiology ... #diagnosis #comparison ... #table
Alexia Without Agraphia
Alexia without agraphia is a disconnection syndrome where patients cannot read but can write.
disconnection syndrome ... Pathophysiology: ... angular gyrus Clinical ... #neurology #diagnosis ... #pathophysiology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Sarcoidosis - Diagnosis ... survival is 93-95% Pathophysiology ... renal failure Clinical ... at the time of diagnosis ... Self-limiting, chronic but stable