10 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... InbornErrors #Metabolism #Neonatology ... #Peds #Pediatrics ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential #Neonatology ... #Peds #Pediatrics
Infant of a Diabetic Mother - complications - pathophysiology learning schema
Information source: UpToDate

#Infant #Diabetic #Mother #Pediatrics
Diabetic #Mother #Pediatrics ... #Neonatology #IDM ... #NICU #OBGYN #Diagnosis ... #Pathophysiology ... Complications #Peds
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
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... #pediatrics #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
- Differential Diagnosis ... • Genetic Disorder ... Landau-Kleffner Syndrome ... Algorithm #Causes #Peds ... #Pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Kleefstra 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
Down syndrome is ... When the diagnosis ... paediatrician or geneticist ... #Examination #Peds ... #Pediatrics #Diagnosis
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
• Serotonin Syndrome ... serotoninergic meds ... disease caused by genetic ... Toxidromes #comparison #table ... #diagnosis #differential