16 results
diagnosis symptoms nephrology differential management pediatrics peds workup 21hydroxylasedeficiency 21ohd acromegaly acute bartter bulimianervosa causes comatose comparison complications defects diabetes
Localization of Renal Tubular Defects Fanconi Syndrome: Proximal tubule Bartter Syndrome: Thick ascending loop of Henle Gitelman Syndrome: Distal
loop of Henle Gitelman ... Syndrome: Distal ... Fanconi #Bartter #Gitelman ... Nephron #Defects #Pathophysiology ... #Nephrology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology
Gitelman Syndrome Pathophysiology Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Pathophysiology ... Gitelman Syndrome ... #Syndrome #Pathophysiology ... #nephrology #diagnosis
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table Diabetes Insipidus - Inadequate ADH SIADH -
Diabetes Insipidus vs Syndrome ... Comparison #Table #Pathophysiology ... #Signs #Symptoms ... #Diagnosis #Endocrinology
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
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... • Rizutti's Sign ... #Keratoconus #pathophysiology
Acute Spinal Cord Injuries: Pathogenesis and clinical findings • Anterior Cord Syndrome -> Anterior spinal artery
Anterior Cord Syndrome ... • Central Cord Syndrome ... #diagnosis #pathophysiology ... #signs #symptoms ... #orthopedics #neurology
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... cotransporter • Gitelman's ... Pseudo Bartter-Gitelman ... #nephrology #management ... #pathophysiology
Weakness - Differential Diagnosis Framework Approach To Weakness: • Non-neuromuscular disorder (Cardiac, pulmonary etc) • CNS ->
• Acute stroke syndromes ... Paraneoplastic syndrome ... Lack of UMN/LMN signs ... Malignancy-associated myositis • Genetic ... Differential #Diagnosis #neurology
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