8 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... #IEM #Laboratory
The child with stridor - Assessment and Differential
 - Croup 
 - Epiglottitis: 
 - Bacterial
with stridor - Assessment ... and Differential ... or congenital airway ... #Diagnosis #Peds ... #Assessment
#Diagnosis #EM #ENT #PrimaryCare #Sore #Throat #SoreThroat #Assessment #Airway #Emergency #RedFlags #Differential #Algorithm #Symptoms #Ddxof
#PrimaryCare #Sore ... Throat #SoreThroat #Assessment ... #Airway #Emergency ... #RedFlags #Differential
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Chromosome/micro-array ... transfusion Chorionic villus ... Preimplantation genetic ... Non-invasive genetic ... Testing #Diagnosis #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Domain Delay - Airway ... Syndromic • Genetic ... DevelopmentalDelay #Differential ... Algorithm #Causes #Peds
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
deficiency, ... laboratory ... neuropsychological assessment ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
Causes of Lactate Elevation, Lactic Acidosis - Differential Diagnosis

The most common causes of hyperlactatemia are usually:
Lactic Acidosis - Differential ... to bolus these values ... thorough physical assessment ... - assess other laboratory ... Acidosis #Elevation #Differential