10 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
inborn errors of metabolism ... See the lab values ... , UpToDate #Pediatrics ... #Genetics #Pathophysiology ... #Diagnosis #Algorithm
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
transfusion Chorionic villus ... inborn error of metabolism ... Preimplantation genetic ... Non-invasive genetic ... #Laboratory #Obstetrics
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
Clinical diagnosis of Alcoholic Hepatitis (AH)
 • Onset of jaundice within prior 8 weeks
 • Ongoing
Clinical diagnosis ... >1.5, and both values ... within 7 days) or metabolic ... Presence of atypical laboratory ... #diagnosis #Alcoholic
Clinical Diagnosis of Autoimmune Hepatitis
 - Onset of jaundice within prior 8 weeks
 - Ongoing consumption
Clinical Diagnosis ... >1.5, and both values ... within 7 days) or metabolic ... Presence of atypical laboratory ... Autoimmune #Hepatitis #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
Causes of Lactate Elevation, Lactic Acidosis - Differential Diagnosis

The most common causes of hyperlactatemia are usually:
- Differential Diagnosis ... impairment of cellular metabolism ... sweat) - its metabolism ... to bolus these values ... - assess other laboratory
Pyloric Stenosis
 • Most common b/w 2 wks - 2 months 
 • Projectile, non-bilious vomiting
Hypochloremic metabolic ... Diagnosis is made ... irritation of the vagus ... PyloricStenosis #Diagnosis ... #Peds #Pediatrics