13 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
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Ichthyosis #clinical #video ... #physicalexam #pediatrics ... #genetics #dermatology
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
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
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
Hemolysis - Differential Diagnosis Framework

1) Environment
  - Fragmentation
  - MAHA: TTP, HUS, DIC, HELLP
- Differential Diagnosis ... HELLP - Grafts, Valves ... Hypophostphatemia Laboratory ... #Differential #Diagnosis ... #hematology
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 ... #Hematology #Coagulation ... Interpretation #Laboratory
Clinical diagnosis of Alcoholic Hepatitis (AH)
 • Onset of jaundice within prior 8 weeks
 • Ongoing
Clinical diagnosis ... >1.5, and both values ... Presence of atypical laboratory ... #diagnosis #Alcoholic ... Hepatitis #AH #hepatology
Clinical Diagnosis of Autoimmune Hepatitis
 - Onset of jaundice within prior 8 weeks
 - Ongoing consumption
Clinical Diagnosis ... >1.5, and both values ... Presence of atypical laboratory ... Autoimmune #Hepatitis #Diagnosis ... #Hepatology #AIH