3 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
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
Pemberton’s Sign in a Patient with a Goiter- Physical examination revealed an enlarged thyroid with no
Pemberton’s Sign ... was 0.2 mIU per liter ... superior vena cava syndrome ... #clinical #photo ... #NEJM #Pembertons