34 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... additions, for diagnosing ... 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 ... Tetralogy #Fallot #diagnosis ... 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
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
Rock Paper Scissors - Assessment of Nerve Damage in Upper Limb Injuries
Rock - Median Nerve
 •
• Extension of wrist ... adduction) OK Sign ... UpperExtremities #diagnosis ... #neurology
Rheumatoid arthritis (RA): Pathogenesis and Joint diseases features
 • RA affects 1% of population, women >
small joints (wrists ... fingers, radial wrist ... RheumatoidArthritis #RA #pathophysiology ... #signs #symptoms ... #diagnosis
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... PVO Present • Diagnosis ... Classic “snowman sign ... Return #TAPVR #diagnosis ... cardiology #peds #pediatrics
Newborn Assessment - APGAR Score

Assessment of newborn vital signs following labor via a 10-point scale evaluated
newborn vital signs ... develop long-term neurologic ... #Diagnosis #Peds ... #Pediatrics #APGAR
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms