32 results
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
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
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Associated Genetic ... Tetralogy #Fallot #diagnosis ... cardiology #peds #pediatrics
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
for Antenatal Diagnosis ... transfusion Chorionic villus ... Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
Historical Indicators of Pediatric Physical Abuse:
- No/vague explanation for a significant injury
- Important detail of the
Indicators of Pediatric ... Physical Abuse: - No/vague ... reasonable explanation #Diagnosis ... #Peds #Pediatrics
ASE Recommendations for Quantification Methods During the Performance of a Pediatric Echocardiogram
 - Left Atrium
 -
Performance of a Pediatric ... Echocardiogram ... Atrioventricular Valves ... Coronary Arteries #Pediatrics ... #Echocardiogram
Abnormal pulsation in the neck in the setting of Aortic Coarctation

10 yo male,  his father
Echocardiogram shows ... Mario Vargas Galgani ... Aorta #Clinical #Video
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
- Differential Diagnosis ... Syndromic • Genetic ... #Differential #Diagnosis ... #Causes #Peds #Pediatrics
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
LFTs) - Normal Values ... hepatocellular injury, genetic ... LFTs #Laboratory #Values ... Interpretation #diagnosis