19 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... See IEM schema for ... 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 ... #Table #IEM #NICU
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... - Differential Diagnosis ... Syndromic • Genetic ... #Algorithm #Causes ... #Peds #Pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... Alzheimer - 1st cause ... hyperorality, - 25% genetic ... Dementia - 2nd cause ... #Geriatrics #Workup
Echocardiography
Right ventricular function can be assessed using several methods and echocardiography is generally the first‐line tool
independent prognostic value ... predictive of all‐cause ... #Diagnosis #Cardiology ... #POCUS #Echocardiogram
Hypotension - Guidelines for Crises in Anaesthesia

Hypotension is commonly due to unnecessarily deep anaesthesia, the autonomic
hypovolaemia or combined causes ... system including valves ... adult, 10 ml.kg-1 paediatric ... team. ❼ Consider causes ... Intraoperative #Checklist #Diagnosis
Cardiac Stress Testing
Exercise:
 • Everyone who can exercise should!
 • They must be able to raise
85% of predicted value ... production to cause ... ventricular arrythmias Diagnostics ... MRI ($$$$) CORE IM ... cardiology #management #diagnosis
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 ... Workup for cause ... EtOH causes thiamine ... AorticRegurgitation #Diagnosis
Figure. An approach to the diagnostic use of echocardiography (echo). Rx indicates prescription; TEE, transesophageal
echocardiography; and
approach to the diagnostic ... endocarditis (IE ... prosthetic heart valves ... #Diagnosis #InfectiveEndocarditis ... Transesophageal #Echocardiogram
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
40% of patients diagnosed ... Genetic Predisposition ... to produce all classes ... IgA, IgG, and IgM