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diagnosis peds fallot inbornerrors management metabolism neonatology nicu riskfactors table tetralogy 21hydroxylasedeficiency 21ohd affectivedisorder agammaglobulinemia algorithm alzheimersdisease anomalous anorexianervosa anxiety
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Neonatology #Peds #Pediatrics ... #Table #IEM #NICU
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... diagnosis #management #cardiology ... #peds #pediatrics
Tetralogy of Fallot 1. Right ventricular outflow tract obstruction 2. Right ventricular hypertrophy 3. Ventricular septal
#Fallot #Peds #Pediatrics ... #Cardiology #Signs ... #Symptoms #Diagnosis
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
chromosome 21) Signs ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... diagnosis #management #cardiology ... #peds #pediatrics
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
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... /Symptoms/Findings ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology
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