9 results
Assessment and Investigation of Meningitis and Encephalitis in Children

#Diagnosis #Peds #Pediatrics #Meningitis #Encephalitis #Assessment #Workup
Assessment and Investigation ... in Children #Diagnosis ... #Peds #Pediatrics ... #Encephalitis #Assessment ... #Workup
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds ... #pediatrics #treatment
Rapid Pediatric Assessment Diagram:
* Assessment of Appearance
  - Tone: Moves spontaneously, resists examination
  -
Rapid Pediatric ... Assessment Diagram ... of Work of Breathing ... - Cyanosis #Diagnosis ... #EM #Peds #Rapid
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
and workup ... 1) Clinical diagnosis ... neuropsychological assessment ... hyperorality, - 25% genetic ... #Diagnosis #Geriatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Newborn Infant - Routine Examination

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