17 results
diagnosis pediatrics management neurology differential signs iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd aids anemia aplastic associated barre bee
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
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... 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
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Differential Diagnosis Algorithm ... Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Causes #Peds #
Irritable Bowel Syndrome (IBS) - Pathophysiology, Diagnosis and Management Algorithm Risk factors: Previous acute enteric infection, Female
(IBS) - Pathophysiology ... and Management Algorithm ... factors affecting symptom ... #Pathophysiology ... Diagnosis #Management #Algorithm
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
BEE Syndromes - ... Visual or auditory symptoms ... conjunction with symptoms ... infections • Herpes virus ... meningitis • Genetic
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
., influenza virus ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #Signs #Symptoms
Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia
Constitutional Syndromes ... : - Genetic lesions ... immunodeficiency virus ... • Epstein-Barr virus ... • 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
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