5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
The 6 C’s of Primary ... - Genetic and environmental ... Care focuses on symptom ... remain subject to clinical ... AutoImmuneLiver #PSC #Primary
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Phosphatase Of Clinical ... synthesized in: liver ... collection with EDTA Pathophysiology ... mineralization Symptoms ... • Elevation of urinary
Mycoses

HISTOPLASMOSIS
• Inhalation of conidia → Yeast → travel to lymph nodes → spread in body
• Bird
has five major clinical ... Mississippi and Ohio River ... fungal stain of clinical ... protein level • A low ... Aspergillosis Pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Types of HLH • Primary ... Common Signs and Symptoms ... - Elevated liver ... Pathophysiology ... Low/absent NK-cell