119 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 ... complex storage diseases ... #Pediatrics #Metabolism ... Diagnosis #Algorithm #Differential
Non-cirrhotic Hyperammonemia - Differential Diagnosis Framework

Hematologic & Vascular:
 • Multiple myeloma & Acute leukemia (plasma cells
Hyperammonemia - Differential ... Y t amino acid metabolism ... Defects • OTC deficiency ... (XLR) • Deficiency ... #Diagnosis #Pathophysiology
Hypocalcemia - Diagnosis and Management
PTH Independent (↑ PTH)
 • LOW VIT D
    -
Diagnosis and Management ... LOW VIT D - Deficiency ... , Kidney Disease ... (CKD) - Metabolism ... endocrinology #differential
High Output Heart Failure - Pathophysiology and Differential Diagnosis
Obesity - Systemic Vasodilation, Vasoactive Adipokines
Arteriovenous Fistula -
Heart Failure - Pathophysiology ... and Differential ... Hyperthyroidism - Increased Metabolism ... #Differential # ... Diagnosis #cardiology
Hemolytic Anemia - Differential Diagnosis Algorithm
 • Sickle cells - Consider sickle cell disease (diverse genotypes):
Hemolytic Anemia - Differential ... Consider sickle cell disease ... defects, Glutathione metabolism ... , Hemoglobin H disease ... Hemolytic #Anemia #Differential
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 ... Valvular heart disease ... Drugs/toxins • Metabolic ... #Fibrillation #Cardiology ... #Management #Algorithm
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
, or Wolman’s disease ... autosomal recessive metabolic ... critical for the metabolism ... triglycerides, a deficiency ... NEJM #Wolmans #radiology
Causes of Proximal Muscle Weakness That May Mimic Inflammatory Myopathy
 • Central or peripheral neurologic disease
peripheral neurologic disease ... - Alcohol • Metabolic ... Myophosphorylase deficiency ... - Carnitine deficiency ... mimics #diagnosis #differential
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... storage disorder • Deficiency ... #Gauchers #Disease ... Diagnosis #Signs #Symptoms
Causes of Iron Deficiency
 • Diet: ↓ Intake, e.g. vegan, Malnutrition, Polyphenol / tannins, ↓ Vitamin
Causes of Iron Deficiency ... : IBD, Chronic disease ... Hemolysis, Iron metabolism ... drkeithsiau #Iron #Deficiency ... #Causes #differential