31 results
diagnosis symptoms treatment differential hematology pediatrics peds barre causes guillain hemophagocytic hlh lymphohistiocytosis ophthalmology physicalexam rheumatology sclerosis workup 21hydroxylasedeficiency 21ohd
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
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
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... palliation • Post-Op Management ... Fallot #diagnosis #management
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
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
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
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... #Endocrinology ... #Treatment #Pathophysiology
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