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diagnosis symptoms hematology pediatrics peds 21hydroxylasedeficiency 21ohd acromegaly bulimianervosa causes complications differential excess gh growthhormone hemeonc hemophagocytic hlh hypocalcemia leukostasis
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
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
vs Tumor Lysis Syndrome ... Leukostasis: • Pathophysiology ... WBC >100k, + lab signs ... : • Pathophysiology ... TLS #diagnosis #management
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
Growth Hormone Excess ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #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
Causes of Hypocalcemia by Clinical Cause Acute illness: pancreatitis, tumor lysis, severe illness - Secondary hyperparathyroidism from
low circulating calcium ... hypocalcemia - Genetic ... or parathyroid hormone ... Malabsorption syndrome ... Differential #Diagnosis #Endocrinology
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 Bulimia Nervosa: Complications GASTROINTESTINAL • Dehydration & inability to digest food -> Constipation • Recurrent vomiting exposes
• Boerhaave syndrome ... Calcium, VitD) and ... lowered hormone ... Complications #pathophysiology ... #diagnosis #signs
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... -55; f 50-60y (hormonal ... survival is 93-95% Pathophysiology ... fibrosis. 4) Calcium ... #Signs #Symptoms
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... #Endocrinology ... #Treatment #Pathophysiology
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 ... Presentation • Common Signs ... Pathophysiology
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