11 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... 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
See the lab values ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Neonatology #Peds ... #Pediatrics #Table
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Associated Genetic ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds ... #pediatrics #treatment
Historical Indicators of Pediatric Physical Abuse:
- No/vague explanation for a significant injury
- Important detail of the
Indicators of Pediatric ... Physical Abuse: - No/vague ... reasonable explanation #Diagnosis ... #Peds #Pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
- Differential Diagnosis ... Syndromic • Genetic ... #Differential #Diagnosis ... Algorithm #Causes #Peds ... #Pediatrics
CRIES is a 10-point scale, using a physiologic basis similar to APGAR: Crying; Requires increased oxygen
the numerical values ... #Diagnosis #Peds ... #Pediatrics #PainScale
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
inflammation is found, an echocardiogram ... before performing echocardiogram ... #Diagnosis #Peds ... #Pediatrics #Kawasaki
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Syndrome is a rare genetic ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
When the diagnosis ... paediatrician or geneticist ... #Examination #Peds ... #Pediatrics #Diagnosis
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
- Mendelian genetic ... Causes #Secondary #diagnosis ... differential #age #pediatrics ... #peds