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
Guillain-Barre Syndrome - Summary

Acute AIDP that presents with rapidly progressive flaccid weakness

Epidemiology:
 • 1-2 cases/100,000 per
Guillain-Barre Syndrome ... Pathophysiology ... Clinical Features ... #diagnosis #management ... #treatment #neurology
Floppy Baby Syndrome
 • Infantile Botulism
 • Acute Flaccid Myelitis
 • Guillain Barre
 • Neonatal Myasthenia
Infantile Botulism ... Flaccid Myelitis • Guillain ... Myasthenia Gravis Clinical ... LMN signs - Assess ... #pediatrics #differential
Guillain-Barré Syndrome (GBS)
Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness
Epidemiology:
 • Incidence: 1
Guillain-Barré Syndrome ... the underlying pathophysiology ... and cauda equina TREATMENT ... #Barre #Syndrome ... #diagnosis #management
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... Diagnosis: HLH signs ... lymph node, or liver ... Lymphohistiocytosis #diagnosis #management
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