6 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
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
and Management ... GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... Beckwith Wiedemann syndrome
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
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
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