5 results
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 ... #InbornErrors ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... #Algorithm #Differential ... Neonatology #Peds #Pediatrics ... #InbornErrors
CRIES is a 10-point scale, using a physiologic basis similar to APGAR: Crying; Requires increased oxygen
Increased vital signs ... 1995) CRIES (Table ... #Diagnosis #Peds ... #Pediatrics #PainScale ... PostOperative #Assessment
Major neurocognitive disorders (MNCD): Diagnosis and workup 

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

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