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

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... 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 ... diagnosis #management #cardiology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Total Anomalous Pulmonary ... Classification • Pathophysiology ... Total #Anomalous #Pulmonary ... diagnosis #management #cardiology ... #peds #pediatrics
Truncus Arteriosus
 • Basic Information
 • Embryology
 • Associated anomalies
 • Pathophysiology/Presentation
 • Pre-operative management
 •
anomalies • Pathophysiology ... Cardiomegaly, increased pulmonary ... diagnosis #management #cardiology ... #peds #pediatrics
Atrial Fibrillation Overview

Symptoms:
Palpitations, light-headedness, dizziness, dyspnea, exercise intolerance, chest pain, near-syncope, syncope.

1. Why?
Cardiac:
• Valvular heart disease
•
Fibrillation Overview Symptoms ... Noncardiac: • Pulmonary ... Drugs/toxins • Metabolic ... #Fibrillation #Cardiology
Refeeding Syndrome: Pathogenesis and clinical findings

Patients at Risk of Refeeding Syndrome:
 - Little or no nutritional
- CHF - Pulmonary ... • Incr Glucose Metabolism ... Syndrome - Metabolic ... Syndrome #diagnosis #pathophysiology ... #symptoms #signs
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Upper Lobe Lung Diseases - STAR CHASERS Mnemonic

S - Silicosis
T - Tuberculosis
A - Ankylosing Spondylitis
R -
upper lobes • Metabolic ... Pulmonary Diseases ... Abnormal perfusion kinetics ... edema • Metabolic ... #STARCHASERS #radiology