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cardiology management algorithm iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd alkaptonuria anomalous arteriosus blackurine differential disease endocrinology examination fallot
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds ... #pediatrics #treatment
Total Anomalous Pulmonary Venous Return (TAPVR) • Introduction • Classification • Pathophysiology of TAPVR • Presentation
Total Anomalous Pulmonary ... Classification • Pathophysiology ... PVO Present • Diagnosis ... management #cardiology #peds ... #pediatrics #summary
Truncus Arteriosus • Basic Information • Embryology • Associated anomalies • Pathophysiology/Presentation • Pre-operative management •
anomalies • Pathophysiology ... Cardiomegaly, increased pulmonary ... Truncus #Arteriosus #diagnosis ... management #cardiology #peds ... #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
non-arousable, decr urine ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Evaluation of suspected incomplete Kawasaki Disease 1. AHA consensus recommendations 2. Infants ≤6 months old on day ≥7
suspected incomplete Kawasaki ... 15,000/mm3, and urine ... #Diagnosis #Peds ... #Pediatrics #Kawasaki
Alkaptonuria (Black Urine Disease) Urine turns dark when left standing due to oxidation of homogentisic acid Clinical
Alkaptonuria (Black Urine ... Disease) Urine ... Alkaptonuria #BlackUrine #Peds ... #Pediatrics #Diagnosis ... #Pathophysiology
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
When the diagnosis ... paediatrician or geneticist ... Newborn #Infant #PhysicalExam ... #Examination #Peds ... #Pediatrics #Diagnosis
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