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diagnosis neurology treatment peds acromegaly barre cardiology causes clinical differential encephalopathy endocrinology eyelid fallot fes floppy gbs guillain hematology hemeonc
Gitelman Syndrome Pathophysiology Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Gitelman Syndrome ... → Hypokalemia Metabolic ... #Syndrome #Pathophysiology ... #nephrology #diagnosis
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... Fallot #diagnosis #management ... cardiology #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... hypomagnesemia • Metabolic ... Hypochloremic metabolic ... #nephrology #management ... #pathophysiology
Gitelman Syndrome - Diagnosis and Workup Blood Work: - Hypokalemia - Hypomagnesemia - Metabolic Alkalosis - Elevated
Gitelman Syndrome ... Hypomagnesemia - Metabolic ... echogenic kidneys Genetic ... #Syndrome #Diagnosis ... #Workup #nephrology
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary Causes of Rhabdomyolysis: • Trauma: - Immobilization - Crush injury - Compartment
Framework and Management ... Heat stroke - Metabolic ... : • Triad of symptoms ... urine • Other symptoms ... causes #treatment #nephrology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
Diagnosis and Management ... Hypogonad (50%) • Metabolic ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... Drug toxicity, Metabolic ... #diagnosis #management ... #neurology
Guillain-Barré Syndrome (GBS) Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness Epidemiology: • Incidence: 1
Guillain-Barré Syndrome ... than one after symptom ... the underlying pathophysiology ... #diagnosis #management ... #neurology
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... hyperinflammatory syndrome ... Familial) HLH: - Genetic ... Common Signs and Symptoms ... Pathophysiology
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