9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics ... #treatment
Alzheimer's Disease - Summary
 • Epidemiology
 • Pathophysiology
 • Risk Factors
 • Presentation
 • Diagnosis
 •
Epidemiology • Pathophysiology ... Diagnosis • Treatment ... • Clinical Course ... diagnosis #management #geriatrics
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... Diagnosis via genetic ... lymph node, or liver ... • Bicytopenia Treatment
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... GH stimulates liver ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment ... #Pathophysiology
Disseminated Intravascular Coagulation (DIC) Overview

Increased Clotting and Consumption of Clotting Factors

Findings:
 • Bleeding
 • Recent history
protein C and S Pathophysiology ... organ damage Clinical ... DIC • Severe Liver ... + Bleeding Treatment ... diagnosis #causes #treatment
Hepatopulmonary Syndrome - Illness Script
HPS is a pulmonary disorder of chronic liver disease characterized by a
: 1) chronic liver ... abnormalities PATHOPHYSIOLOGY ... of orthodeoxia CLINICAL ... the left heart TREATMENT ... only definitive treatment
Mycoses

HISTOPLASMOSIS
• Inhalation of conidia → Yeast → travel to lymph nodes → spread in body
• Bird
Histoplasmosis Treatment ... has five major clinical ... Mississippi and Ohio River ... fungal stain of clinical ... Aspergillosis Pathophysiology