5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... pathophysiology #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... most frequently affects ... Diagnosis: HLH signs ... and symptoms can ... Lymphohistiocytosis #diagnosis #management
Chagas Disease - American Trypanosomiasis - Diagnosis and Management Summary
Chagas disease (American trypanosomiasis) is an infectious
Diagnosis and Management ... Romana's sign ... /symptoms, positive ... q12h)x60 days • Pediatric ... 90-120 days • Pediatric
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
Transverse Myelitis - Clinical ... • Bilateral signs ... and/or symptoms ... Myelitis #diagnosis #management ... #neurology #differential