14 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds ... #IEM #NICU #InbornErrors
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 ... Fallot #diagnosis #management ... #cardiology #peds ... #pediatrics #treatment
gestational diabetes algorithm
#Infant #Diabetic #Mother #Pediatrics #Neonatology #IDM #NICU #OBGYN #Diagnosis #Pathophysiology #Maternal #Complications #Peds #Newborn
Diabetic #Mother #Pediatrics ... Neonatology #IDM #NICU ... OBGYN #Diagnosis #Pathophysiology ... Complications #Peds ... #PatientInfo #Management
Atrioventricular Septal Defect
aka AV canal defect aka endocardial cushion defect
 • Epidemiology and Associations
 • Embryology
Physical Exam • Pathophysiology ... Post-Operative ICU ... Management • ... cushion #diagnosis #management ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Pre-Operative Management ... #cardiology #peds ... #pediatrics #summary
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Brudzinski’s Sign ... While the pathophysiology ... despite severe disease ... #PhysicalExam #Pediatrics ... #Peds
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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features of Liver Disease ... #LiverFailure #Signs ... Findings #Diagnosis #Peds ... #Pediatrics #Hepatology
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