23 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Fallot #diagnosis #management ... #cardiology #peds ... #pediatrics #treatment
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... Epidemiology • Clinical ... Pre-operative Management ... AorticValve #cardiology #peds ... #pediatrics
Infantile Spasms 
Associated with Tuberous Sclerosis 
1) Flexor spasms: Sudden flexion of neck, trunk, arms, and
Infantile Spasms ... of the legs Clinical ... EEG pattern Management ... #Spasms #Peds # ... Pediatrics #Diagnosis
Staphylococcal Scalded Skin Syndrome (SSSS)

A 5-year-old girl presents to the ED with a rash that started
Staphylococcal Scalded Skin Syndrome ... Scalded #Skin #Syndrome ... #SSSS #Clinical ... #Photo #Peds #Pediatrics ... #Dermatology
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... Maternal Support - Critical ... #Pregnancy #hepatology ... obgyn #diagnosis #management ... #pathophysiology
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... Findings #Diagnosis #Peds ... #Pediatrics #Hepatology
Macrophage Activation Syndrome (MAS)
Classified among the secondary or acquired forms of haemophagocytic lymphohistiocytosis (sHLH)

What?
A subset of
Clinical Presentation ... Fever is the main clinical ... thrombocytopenia • Liver ... #Diagnosis #Management ... #Hematology #Rheumatology
Hepatopulmonary Syndrome - Diagnosis and Management Summary
A defect in arterial oxygenation due to a gas exchange
Hepatopulmonary Syndrome ... Diagnosis and Management ... shunt (Type 2) Clinical ... hepatopulmonary #syndrome ... #treatment #hepatology
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Erythematosus (SLE) Clinical ... Demyelinating Syndrome ... Disease, PRES Pathophysiology ... CNS #neurology #rheumatology ... cerebritis #diagnosis #management