12 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 ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis
Liver Function Tests (LFTs) - Normal Values and Interpretation

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

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... deficiency, ... laboratory ... impaired executive functions ... hyperorality, - 25% genetic ... #Geriatrics #Workup
Echocardiography
Right ventricular function can be assessed using several methods and echocardiography is generally the first‐line tool
Right ventricular function ... independent prognostic value ... #Diagnosis #Cardiology ... #POCUS #Echocardiogram
THROMBOELASTOGRAPHY (TEG)
General Principle
• A small cuvette is rotated to simulate sluggish venous flow and stimulate clot
which allows the kinetics ... cascade and platelet function ... 2 mm • K - K value ... Thromboelastography #Diagnosis
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
inflammation is found, an echocardiogram ... before performing echocardiogram ... , decreased LV function ... #Diagnosis #Peds ... #Pediatrics #Kawasaki
Quincke's Pulse in a patient with a normal echocardiogram (non-valvular)

A 70 y/o man presents with new
with a normal echocardiogram ... is identified (video ... preserved systolic function ... AorticRegurgitation #Diagnosis