14 results
diagnosis differential peds causes hypocalcemia treatment signs symptoms 21hydroxylasedeficiency 21ohd acromegaly algorithm bulimianervosa cardiology complications cppd deposition disease fallot gitelman
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 ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... Fallot #diagnosis #management ... cardiology #peds #pediatrics
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 ... #peds #pediatrics
Hypocalcemia - Diagnosis and Management PTH Independent (↑ PTH) • LOW VIT D -
Diagnosis and Management ... Formation: Hungy Bone Syndrome ... - Calcium Sequestration ... - DiGeorge Syndrome ... #endocrinology
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
vs Tumor Lysis Syndrome ... Leukostasis: • Pathophysiology ... hyperviscosity syndrome ... : • Pathophysiology ... TLS #diagnosis #management
Rhabdomyolysis - Differential Diagnosis and Management Summary Trauma: • Immobilization, Crush iniury, Compartment syndrome, Electrical injury Exertional: •
Diagnosis and Management ... iniury, Compartment syndrome ... Neuroleptic malignant syndrome ... Dermatomyositis) AKI - Pathophysiology ... potassium and calcium
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... #Endocrinology ... #Treatment #Pathophysiology
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 ... fibrosis. 4) Calcium ... • Heerfordt syndrome ... Sarcoidosis #Diagnosis #Management
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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 Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
Kleefstra Syndrome ... is a rare genetic ... with Kleefstra Syndrome ... #Diagnosis #Management ... PatientInfo #Peds #Pediatrics
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