57 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology
Atrioventricular Septal Defect
aka AV canal defect aka endocardial cushion defect
 • Epidemiology and Associations
 • Embryology
Defect aka AV canal ... Physical Exam • Pathophysiology ... Outcomes by Cara ... management #peds #pediatrics
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
Gowers' Sign on Physical Exam

Seen in this patient with Duchenne muscular dystrophy (DMD)

#Gowers #Sign #PhysicalExam #neurology
Gowers' Sign on ... with Duchenne muscular ... DMD) #Gowers #Sign ... clinical #video #pediatrics ... #muscular #dystrophy
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Hypothyroidism – symptoms and signs.

Symptoms: 
Tiredness/malaise, 
Weight gain,
Anorexia,
Cold intolerance, 
Poor memory,
Change in appearance, 
Depression, 
Poor libido,
– symptoms and signs ... , Deafness Signs ... peripheries, Carpal ... Myotonia, Muscular ... Hypothyroid #Features #Signs
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... Classic “snowman sign ... Outcomes by Cara ... cardiology #peds #pediatrics
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... overgrowth: • Carpal ... Overproduction #diagnosis #signs ... endocrinology #pathophysiology