14 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... from UpToDate and Pediatrics ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
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
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
Hypotension - Guidelines for Crises in Anaesthesia

Hypotension is commonly due to unnecessarily deep anaesthesia, the autonomic
system including valves ... pressure as a cause ... adult, 10 ml.kg-1 paediatric ... o Endocrine cause ... Intraoperative #Checklist #Diagnosis
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
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
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
When the diagnosis ... paediatrician or geneticist ... intra-abdominal masses ... Examination #Peds #Pediatrics ... #Diagnosis
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Causes of Growth ... - Differential Diagnosis ... Chromosomal Anomaly • Genetic ... #Algorithm #Causes ... #Obstetrics #Pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Syndrome is a rare genetic ... disorder, caused ... #Diagnosis #Management ... PatientInfo #Peds #Pediatrics