11 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
transfusion Chorionic villus ... Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic ... #Laboratory #Obstetrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
- Differential Diagnosis ... Algorithm Isolated ... Syndromic • Genetic ... #Algorithm #Causes ... #Peds #Pediatrics
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
LFTs) - Normal Values ... hepatocellular injury, genetic ... #Tests #LFTs #Laboratory ... #Values #Interpretation ... #diagnosis #hepatology
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... 1) Clinical diagnosis ... deficiency, ... laboratory ... hyperorality, - 25% genetic ... #Geriatrics #Workup
Normal Thromboelastogram - Specific parameters represent the 3 phases of the cell-based model of haemostasis: initiation,
propagation -R value ... initiation -K = kinetics ... lysis time (s) #Diagnosis ... Interpretation #Laboratory
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
before performing echocardiogram ... purposes of this algorithm ... #Diagnosis #Peds ... #Pediatrics #Kawasaki ... Disease #Incomplete #Algorithm
Figure. An approach to the diagnostic use of echocardiography (echo). Rx indicates prescription; TEE, transesophageal
echocardiography; and
approach to the diagnostic ... prosthetic heart valves ... #Diagnosis #InfectiveEndocarditis ... Transesophageal #Echocardiogram ... #TTE #TEE #Algorithm
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
- Differential Diagnosis ... Algorithm Maternal ... Chromosomal Anomaly • Genetic ... #Algorithm #Causes ... #Obstetrics #Pediatrics