20 results
diagnosis pediatrics signs management psychiatry cardiology iem inbornerrors metabolism neonatology nicu riskfactors syndrome table vasculitis 21hydroxylasedeficiency 21ohd agammaglobulinemia algorithm anemia
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... Complications: • Gonadal hypoplasia ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... old; F>M Signs/Symptoms ... Temporal #Arteritis #Pathophysiology ... Diagnosis #Signs #Symptoms
Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia
Syndromes: - Genetic ... Hypocellular/Hypoplastic ... Level ↑ • Marrow hypoplasia ... • Improve the symptoms
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 ... #genetics #endocrinology ... #peds #pediatrics
Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a rare but potentially serious adverse reaction that has been
Symptoms of VITT ... and neurological symptoms ... that while the diagram ... thrombocytopenia #COVID #pathophysiology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #Signs #Symptoms
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