6 results
Bleeding disorders in children

#Bleeding #Disorders #Differential #Hematology #Pediatrics #Peds
Bleeding disorders ... children #Bleeding #Disorders ... #Differential #Hematology ... #Pediatrics #Peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Adult-Onset Still's Disease (AOSD)
Rare inflammatory disorder of unknown etiology, difficult to diagnose because of heterogenous presentation.
Rare inflammatory disorder ... Genetic susceptibility ... Life-threatening complications ... Disease #AOSD #rheumatology
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
Diagnosis of IgA Vasculitis (Henoch-Schönlein Purpura) - French Vasculitis Study Group 

1) Suggestive clinical manifestations
potential severe complications ... HSP #Diagnosis #Rheumatology ... #Peds #Pediatrics
Helpful Clinical Features in Evaluating Bleeding Disorders
Age of onset
 • Neonate - in 20% of haemophilias,
Evaluating Bleeding Disorders ... #Bleeding #Disorders ... #History #peds ... #pediatrics #diagnosis ... #hematology #primarycare