7 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 ... #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 #Table
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Syndromic • Genetic ... DevelopmentalDelay #Differential ... Algorithm #Causes #Peds ... #Pediatrics
The infant with tachypnea or wheeze - Clinical Conditions to Consider
 - Bronchiolitis 
 - Pneumonia
neuromuscular disorder ... #Diagnosis #Peds ... #Pediatrics #Infant ... Tachypnea #Wheeze #Differential ... #Assessment #Wheezing
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neurocognitive disorders ... neuropsychological assessment ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... Workup #Diagnosis #Geriatrics
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
- Endocrine disorders ... - Mendelian genetic ... Secondary #diagnosis #differential ... #age #pediatrics ... #peds
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 ... to exclude a posterior ... #Examination #Peds ... #Pediatrics #Diagnosis