8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
Abnormal liver function ... initial response to abnormal ... symptoms/signs ... presence of metabolic syndrome ... #Enzymes #Differential
Floppy Baby Syndrome
 • Infantile Botulism
 • Acute Flaccid Myelitis
 • Guillain Barre
 • Neonatal Myasthenia
Floppy Baby Syndrome ... • Infantile Botulism ... Myasthenia Gravis Clinical ... LMN signs - Assess ... #pediatrics #differential
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... heart (2-5%), liver ... (pain/abnormal ... #Signs #Symptoms
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... Differential Diagnosis ... Beckwith Wiedemann syndrome
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... • Bilateral signs ... Sjogren's • CSF: - Abnormal ... #neurology #differential
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
tubule (DCT) Clinical ... Metabolic alkalosis • Normal ... ratio 0.5%) Differential ... diagnosis #nephrology #management ... #pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... Clinical Presentation ... • Common Signs ... - Elevated liver ... Pathophysiology