9 results
Initial assessment and management of coma in pediatric population.

Airway - is it secure? 
Breathing — is
Initial assessment ... management of coma in pediatric ... treatable: - hypoglycaemia ... care unit #Assessment ... #Coma #Pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology
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 ... cardiology #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hyperkalemia, Hypoglycemia ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Assessment of diabetic control:
 - Any episodes of hypoglycaemia, diabetic ketoacidosis, hospital admission? 
 - Is
Assessment of diabetic ... Any episodes of hypoglycaemia ... still awareness of hypoglycaemia ... primarycare #DM1 #Peds #Pediatrics ... #Assessment
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neuropsychological assessment ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
paediatrician or geneticist ... always needs urgent assessment ... Examination #Peds #Pediatrics