5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... fractures • Short ... PraderWilli #Syndrome #genetics ... #pathophysiology
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
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extrapulmonary cases Clinical ... Signs/Symptoms: ... years - May have signs ... decreased reflexes Pathophysiology ... intervention CMC
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Pathogenesis and clinical ... Syndromes #diagnosis #pathophysiology ... #signs #symptoms ... #msk #orthopedics ... #neurology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Clinical Presentation ... • Common Signs ... and Symptoms: ... Pathophysiology