41 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... > Neonatal and infantile ... #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds ... #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds ... #pediatrics #treatment
Pediatric Discitis - Inflammation of intervertebral disc 
Etiology 
 • Bacterial or viral 
Clinical 
 •
Pediatric Discitis ... Bacterial or viral Clinical ... • Radicular symptoms ... intervertebral #Pediatrics ... #Peds #Diagnosis
Nuchal Rigidity in Infantile Bacterial Meningitis

Flexion of the neck revealed nuchal rigidity. The patient was unable
Nuchal Rigidity in Infantile ... From - Journal of Pediatrics ... #PhysicalExam #Clinical ... #Video #Peds #Pediatrics
Nuchal Rigidity in Infantile Bacterial Meningitis

Flexion of the neck revealed nuchal rigidity. The patient was unable
Nuchal Rigidity in Infantile ... #PhysicalExam #Clinical ... #Video #Peds #Pediatrics
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... Epidemiology • Clinical ... AorticValve #cardiology #peds ... #pediatrics
Scarlet Fever - Other symptoms include: white coating on the tongue which then peels and leave
Fever - Other symptoms ... lymphadenopathy #Clinical ... #Dermatology #Peds ... #Pediatrics #SkinRash
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics