4 results
diagnosis management pediatrics 21hydroxylasedeficiency 21ohd disease endocrinology potts praderwilli sarcoidosis summary syndrome tb tuberculosis
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... /Symptoms/Complications ... #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Pott's Disease in Tuberculosis - Diagnosis and Management Summary Epidemiology: - Typically from TB endemic areas -
extrapulmonary cases ... Clinical Signs ... pulmonary TB PE ... decreased reflexes Pathophysiology ... tissue damage - CXR
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... e.g. incidental CXR ... anterior/posterior MSK ... Diagnosis #Management #Signs
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