175 results
Simplified Diagnosis of Metabolic Disorders
#Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Simplified Diagnosis of Metabolic ... Disorders #Diagnosis ... #Metabolic #Diseases ... #Disorders #Ketones ... #Ammonia #Differential
Causes of Proximal Muscle Weakness That May Mimic Inflammatory Myopathy
 • Central or peripheral neurologic disease
peripheral neurologic disease ... - Alcohol • Metabolic ... or hyperadrenal disorders ... • Electrolyte disorders ... mimics #diagnosis #differential
Causes of Bleeding / Bruising - Differential Diagnosis Algorithm
Thrombocytopenia - Quantitative Defect
 • Decreased Production
 •
Bleeding / Bruising - Differential ... Sequestration Disordered ... ASA) • Renal Disease ... Connective Tissue Disorders ... Bleeding #Bruising #Differential
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
Lysosomal Storage Disorders

Mucolipidoses
 • I-Cell Disease

Mucopolysaccharidoses
 • Hurler
 • Hunter

Sphingolipidoses
 • Tay Sachs
 • Fabry
 •
Lysosomal Storage Disorders ... Mucolipidoses • I-Cell Disease ... Lysosomal #Storage #Disorders ... #Diseases #pathophysiology ... #diagnosis #differential
Hemolytic Anemia - Differential Diagnosis Algorithm
 • Sickle cells - Consider sickle cell disease (diverse genotypes):
Hemolytic Anemia - Differential ... defects, Glutathione metabolism ... , Hemoglobin H disease ... Consider RBC membrane disorder ... Hemolytic #Anemia #Differential
Causes of Pulmonary Hypertension - Differential Diagnosis Algorithm
Pulmonary Arterial Hypertension
 • Idiopathic
 • Associated with:
Hypertension - Differential ... • Sleep-Disordered ... • Hematologic Disorders ... • Metabolic Disorders ... PulmonaryHypertension #PHTN #Differential
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... Lysosomal storage disorder ... • Deficiency ... Diagnosis #Signs #Symptoms
Overall Approach to Anemia - Differential Diagnosis Algorithm

Blood Loss
 • Acute Bleed - Normocytic / Normochromic
Approach to Anemia - Differential ... Anemia of Chronic Disease ... • RBC Membrane Disorder ... • RBC Metabolism ... Disorder - Acquired
Causes of Iron Deficiency
 • Diet: ↓ Intake, e.g. vegan, Malnutrition, Polyphenol / tannins, ↓ Vitamin
Causes of Iron Deficiency ... : IBD, Chronic disease ... Hemolysis, Iron metabolism ... disorders Dr. ... #Causes #differential