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diagnosis hematology management genetics 21hydroxylasedeficiency 21ohd alzheimersdisease apml chronic cll dementia differentiation disease endocrinology features geriatrics hemeonc hemophagocytic hlh kawasaki
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
febrile vasculitic syndrome ... lethal cardiac complications ... Disease #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... Dehydration • Symptoms ... WBC >100k, + lab signs ... : • Pathophysiology ... Lysis of tumor cells
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Chronic Lymphocytic Leukemia - Summary Cancer affecting lymphocytes/Mature B cell neoplasm • Lymphocytes accumulate in large numbers
with no early symptoms ... Physical Exam/Signs ... microglobulin Treatment ... • Richter’s Syndrome ... diagnosis #workup #oncology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Differentiation Syndrome in APML Epidemiology: • Incidence: common in APL (2-48% depending on the study) • Triggers:
Differentiation Syndrome ... Triggers: ATRA treatment ... Pathophysiology ... Diagnosis: >3 symptoms ... management #hematology #oncology
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome ... Presentation • Common Signs ... and Symptoms: ... Pathophysiology ... Treatment Approach
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