16 results
diagnosis management peds syndrome causes dermatology disease endocrinology hematology hepatology 21hydroxylasedeficiency 21ohd acromegaly aflp alzheimers ascorbicacid cardiology cirrhosis coagulation cutaneous
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics ... #treatment
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Acute Fatty Liver ... Pregnancy (AFLP) Pathophysiology ... rapidly develops (DIC ... Maternal Support - Critical ... diagnosis #management #pathophysiology
Disseminated Intravascular Coagulation (DIC) Overview Increased Clotting and Consumption of Clotting Factors Findings: • Bleeding • Recent history
protein C and S Pathophysiology ... organ damage Clinical ... • Severe Liver ... + Bleeding Treatment ... diagnosis #causes #treatment
Alzheimer's Disease - Summary • Epidemiology • Pathophysiology • Risk Factors • Presentation • Diagnosis •
Epidemiology • Pathophysiology ... Diagnosis • Treatment ... • Clinical Course ... diagnosis #management #geriatrics
Krabbe Disease Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
disease, a rare genetic ... testing and expedite treatment ... with clinical trials ... deposition) • Dec ... Diagnosis #MRI #Clinical
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... Diagnosis via genetic ... lymph node, or liver ... • Bicytopenia Treatment
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook Clinical Presentation: • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... GH stimulates liver ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment ... #Pathophysiology
Scurvy (Vitamin C Deficiency) - Diagnosis and Management Vitamin C is required for hydroxylation of proline residues
poor nutrition Clinical ... Henoch-Schonlein purpura • DIC ... vasculitis Treatment ... weeks #Scurvy #Pathophysiology ... #AscorbicAcid #Pathophysiology
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