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
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... excessive macrophage activation ... Diagnosis: HLH signs ... lymph node, or liver
Macrophage Activation Syndrome (MAS)
Classified among the secondary or acquired forms of haemophagocytic lymphohistiocytosis (sHLH)

What?
A subset of
Macrophage Activation ... Clinical Presentation ... thrombocytopenia • Liver ... Treatment: • Corticosteroids ... #Management #Hematology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... GH stimulates liver ... Beckwith Wiedemann syndrome ... Endocrinology #Treatment ... #Pathophysiology
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 ... heart (2-5%), liver ... #Signs #Symptoms
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
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... • Excessive activation ... Transverse Myelitis - Clinical ... • Bilateral signs ... Transverse Myelitis Treatment
Hepatorenal Syndrome (HRS)

Definition:
• Functional, potentially reversible kidney impairment.
• Occurs in advanced liver disease: cirrhosis, severe alcoholic
Hepatorenal Syndrome ... Pathophysiology: ... sympathetic + ADH activation ... Diagnosis (Clinical ... Treatment Overview