15 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... Complications: • Gonadal hypoplasia ... #genetics #pathophysiology ... #peds #pediatrics
Hypoplastic left heart syndrome
A congenital heart defect in which the left heart is severely underdeveloped
Accounts for
Hypoplastic left ... heart syndrome ... congenital heart disease ... #left #heart #syndrome ... #Diagram
Castleman's Disease and Associated Syndromes
HYALINE VASCULAR VARIANT
 • unicentric, HHV8-ve, children and young.
 • Hyalinized vessels
and Associated Syndromes ... FDC • Systemic symptoms ... CELL VARIANT • Hyperplastic ... unicentric • Systemic symptoms ... Pathogenesis "IL6 syndrome
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... febrile vasculitic syndrome ... #Kawasaki #Disease ... Features #Signs #Symptoms ... #Diagnosis #Peds
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings
• Primary Sjögren's is a solitary process whereas secondary Sjögren's
other autoimmune diseases ... with systemic diseases ... (SLE) Signs / Symptoms ... #Pathophysiology ... Diagnosis #Signs #Symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... diagnosis #signs #symptoms
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Carpal Tunnel Syndrome ... Cardiovascular disease ... diagnosis #signs #symptoms ... endocrinology #pathophysiology
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
decompensated liver disease ... rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
Refeeding Syndrome ... due to chronic disease ... overload) Other Symptoms ... • Nephrotic syndrome ... Differential #Diagnosis #Pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Encephalopathy Syndrome ... Shock, Autoimmune disease ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs