10 results
diagnosis symptoms genetics pediatrics peds 21hydroxylasedeficiency 21ohd acute bulimianervosa caudaequina differential gitelman gravis hypokalemia injury ms multiple myasthenia myelitis nephrology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... delayed puberty -> Infertility ... #genetics #pathophysiology
Cauda Equina Syndrome Causes: • Large lumbar degenerative disc herniation (central) • Severe lumbar spondylosis • Neoplasm
Cauda Equina Syndrome ... lumbar spine Signs ... / Symptoms / Complications ... #CaudaEquina #Syndrome ... #MSK #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Acute Spinal Cord Injuries: Pathogenesis and clinical findings • Anterior Cord Syndrome -> Anterior spinal artery
Anterior Cord Syndrome ... #diagnosis #pathophysiology ... #signs #symptoms ... #msk #orthopedics ... #neurology
Multiple Sclerosis - Summary Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
• Or brainstem syndromes ... • Lhermitte’s sign ... objective evidence of neurologic ... sclerosis #diagnosis #management ... #neurology #treatment
Myasthenia Gravis Overview Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction. Ab to
test - Cogan sign ... - Peek sign ... immunologic assay - MuSK ... Gravis #diagnosis #management ... #neurology
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... anterior/posterior MSK ... Sarcoidosis #Diagnosis #Management ... #Signs #Symptoms
Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
Bulimia Nervosa: Complications ... • Boerhaave syndrome ... > Amenorrhea & Infertility ... #pathophysiology ... #diagnosis #signs
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
10-33% develop MS ... monophasic Pathophysiology ... • Bilateral signs ... Myelitis #diagnosis #management ... #neurology #differential
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... • Gitelman's syndrome ... diarrhea Potential Complications ... #diagnosis #nephrology ... #management #pathophysiology
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