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diagnosis differential pediatrics genetics management nutrition peds pituitary symptoms 21hydroxylasedeficiency 21ohd algorithm bronchiectasis causes copper feedbackloop gh gitelman glftap growthhormone
Short Stature - Differential Diagnosis Algorithm Normal Variant, Normal Puberty Onset (BA = CA) • Familial Short
Short Stature - ... Disease • GH Deficiency ... • IGF-I Deficiency ... Panhypopituitarism Treatment ... Diagnosis #Algorithm #endocrinology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... fractures • Short ... #genetics #pathophysiology
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... Symptoms: • GH deficiency ... : - Short ... #FeedbackLoop #endocrinology ... #pathophysiology
Risk Factors and Signs of Copper Deficiency Risk Factors: • Gastrointestinal: Previous upper bowel resection/bariatric surgery, Inflammatory
of Copper Deficiency ... Chronic diarrhoea, Short ... bowel syndrome, ... dental fixatives, Treatment ... drkeithsiau #Copper #Deficiency
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-Hydroxylase Deficiency ... amount of enzyme deficiency ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Refeeding Syndrome Overview What Is It? • Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
severe clinical complications ... Hypo-Mg2+ • Vitamin deficiency ... • Vitamin D deficiency ... hyperparathyroidism Treatment ... Differential #Diagnosis #Pathophysiology
Pituitary Mass Effects - Pathogenesis and Clinical Findings • Pituitary turnors are almost always a benign
adenomas that require treatment ... Signs / Symptoms ... / Complications ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology
Clinical Feature of Hypomagnesemia and Magnesium Deficiency • Electrolyte Disturbance: Hypokalemia, Hypocalcemia • Neuromuscular and central
and Magnesium Deficiency ... sensitivity • Complications ... Chronic fatigue syndrome ... Hypomagnesemia #diagnosis #signs ... #symptoms #Treatment
Bronchiectasis - Summary What? • Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
• Mounier-Kuhn syndrome ... Nasal polyps and signs ... advanced disease Complications ... α1-antitrypsin deficiency ... mycobacteria Treatment
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... Hypocalciuria (spot ... diarrhea Potential Complications ... Rhabdomyolysis Treatment ... nephrology #management #pathophysiology
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