11 results
diagnosis management causes differential pediatrics peds hypocalcemia 21hydroxylasedeficiency 21ohd acromegaly bulimianervosa cardiology complications cppd deposition disease fallot gitelman hematology hypokalemia
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #PraderWilli #Syndrome ... #genetics #pathophysiology
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... peds #pediatrics #treatment
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... organ damage • Treatment ... : • Pathophysiology ... • Treatment: ... - Hyperkalemia treatment
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Rhabdomyolysis - Differential Diagnosis and Management Summary Trauma: • Immobilization, Crush iniury, Compartment syndrome, Electrical injury Exertional: •
iniury, Compartment syndrome ... Neuroleptic malignant syndrome ... Dermatomyositis) AKI - Pathophysiology ... oxidative iniury Treatment ... potassium and calcium
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... Diagnosis #Management #Endocrinology ... #Treatment #Pathophysiology
Causes of Hypocalcemia by Clinical Cause Acute illness: pancreatitis, tumor lysis, severe illness - Secondary hyperparathyroidism from
low circulating calcium ... hypocalcemia - Genetic ... defects in calcium-sensing ... Malabsorption syndrome ... Differential #Diagnosis #Endocrinology
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 Causes of Hypocalcemia - Differential Diagnosis Decreased calcium absorption • Vitamin D deficiency -
Diagnosis Decreased calcium ... Malabsorption Syndromes ... Increased calcium ... Hypoparathyroidism - Genetic ... Diagnosis #Causes #endocrinology
Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
• Boerhaave syndrome ... lead to long-term fertility ... > Amenorrhea & Infertility ... Calcium, VitD) and ... Complications #pathophysiology
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 ... Hypocalciuria (spot urine, calcium-creatinine ... Rhabdomyolysis Treatment ... nephrology #management #pathophysiology
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