9 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 ... Syndromes • “Pink ... diagnosis #management #cardiology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Diffuse Lung Disease. 
Collagen vascular 
 - Scleroderma 
 - Rheumatoid arthritis 
 -
Churg-Strauss syndrome ... Chronic mycoses Genetic ... sclerosis - Metabolic ... Hermansky-Pudlak syndrome ... #Diagnosis #Radiology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Hypogonad (50%) • Metabolic ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome ... Endocrinology #Treatment #Pathophysiology
Bile Duct Paucity - Differential Diagnosis
 • Genetic: Alagille syndrome, Trisomy 21, Williams syndrome, Peroxisomal disorders
Differential Diagnosis • Genetic ... : Alagille syndrome ... Trisomy 21, Williams syndrome ... Peroxisomal disorders • Metabolic ... Paucity #biliary #hepatology
Fontan Procedure Schematic
A Fontan is done in most children (approximately 90%) who effectively have a single
or a congenital syndrome ... Diagram #congenital #Cardiology ... #Peds #Pediatrics ... #Pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome ... patients with the HLH syndrome ... Familial) HLH: - Genetic ... Pathophysiology ... Diagnosis #Management #Hematology