11 results
diagnosis management hematology genetics peds vasculitis 21hydroxylasedeficiency 21ohd alzheimersdisease apml autoimmune behcet classification dementia differentiation disease encephalopathy endocrinology geriatrics hemeonc
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... 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 ... diagnosis #management #hematology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Behçet's Syndrome Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy Epidemiology: • Young
Behçet's Syndrome ... meningitis), MCC CNS symptoms ... Behcet disease) Differential ... diagnosis #management #signs ... #symptoms #rheumatology
Differentiation Syndrome in APML Epidemiology: • Incidence: common in APL (2-48% depending on the study) • Triggers:
Differentiation Syndrome ... ATRA treatment Pathophysiology ... Diagnosis: >3 symptoms ... initiation • Differential ... Differentiation #Syndrome
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Encephalopathy Syndrome ... Infection/Sepsis/Shock ... Etiology: • Pathophysiology ... Neurological symptoms ... Reversible course Differential
Vasculitis and Vasculitides - Differential Diagnosis Framework When to Consider Vasculitis: • Purpura, ischemic skin lesions •
Vasculitides - Differential ... • Cogan Syndrome ... Presentation - Systemic Symptoms ... purpura: strong sign ... #diagnosis #rheumatology
Vasculitis - Differential Diagnosis Framework When to Consider Vasculitis: • Purpura, ischemic skin lesions • Mononeuritis multiplex • Hematuria, proteinuria,
Vasculitis - Differential ... Presentation: Systemic Symptoms ... purpura: Strong sign ... • Progressive symptoms ... #Diagnosis #Rheumatology
Autoimmune Myositis - Differential Diagnosis Framework Inflammatory Myopathies: Commonly symmetric proximal muscle weakness, no substantial muscle pain
Autoimmune Myositis - Differential ... RP-ILD), dermato-rheumatologic ... papules and Gottron sign ... ) • Shawl sign ... #differential #
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