4 results
diagnosis pathophysiology peds 21hydroxylasedeficiency 21ohd arthritis hematology hemophagocytic hlh lymphohistiocytosis management praderwilli ra rheumatoid treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... fractures • Short ... #genetics #pathophysiology ... #peds #pediatrics
Rheumatoid Arthritis Summary MCP and PIP Involvement, Spares DIP, Carpal Tunnel, Sicca Syndrome, Epi/Scleritis, Heart Disease, Rheumatoid
PIP Involvement, Spares ... Tunnel, Sicca Syndrome ... Instability, Felty's Syndrome ... RA #diagnosis #rheumatology ... #signs #symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
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 syndrome ... an underlying genetic ... Diagnosis: HLH signs ... and symptoms can ... Diagnosis via genetic
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