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genetics peds 21ohd diagnosis disease management myopathy potts praderwilli signs syndrome tb tuberculosis
Hypothyroid Myopathy Very common (up to 80% ) in patients with hypothyroidism Pathophysiology: • T4 deficiency leads to
Hypothyroid Myopathy ... fast-twitching Type ... fibers Spectrum of Clinical ... #signs #symptoms ... #endocrinology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... • Obesity -> Type ... 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 ... #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Pott's Disease in Tuberculosis - Diagnosis and Management Summary Epidemiology: - Typically from TB endemic areas -
and Management Summary ... extrapulmonary cases Clinical ... Signs/Symptoms: ... decreased reflexes Pathophysiology ... damage - CXR should
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