31 results
neurology disease hematology cardiology genetics pulmonary rheumatology sclerosis 21hydroxylasedeficiency 21ohd alcohol als alzheimersdisease amyotrophic anomalous apml aws barre behcet bronchiolitis
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... #peds #pediatrics ... #treatment
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
febrile vasculitic syndrome ... Early diagnosis ... Disease #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS) #PIMSTS #Pediatrics #Inflammatory #Multisystem #Syndrome #Peds #Signs
Pediatric Inflammatory ... Multisystem Syndrome ... #Multisystem #Syndrome ... #Peds #Signs #Symptoms ... #Diagnosis
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Classification • Pathophysiology ... PVO Present • Diagnosis ... Classic “snowman sign ... Return #TAPVR #diagnosis ... #peds #pediatrics
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... WBC >100k, + lab signs ... : • Pathophysiology ... #TLS #diagnosis ... #management #hematology
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
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 ... endocrinology #peds ... #pediatrics
Management of Serotonin Syndrome Identify and stop all serotoninergic medications • Avoid inadvertent Rx of serotoninergic meds
Syndrome Identify ... serotoninergic meds ... normalize vital signs ... then 2 mg q2h if symptoms ... #Management #treatment
Bronchiolitis Bronchiolitis is a viral inflamation of the bronchioles and the commonest LRTI in under 1s'. It's
Diagnosis - Coryzal ... symptoms for 1 ... Bronchiolitis #pediatrics ... #diagnosis #management ... #peds #treatment
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