6 research outputs found

    Severe Neonatal Hyperbilirubinemia and UGT1A1 Promoter Polymorphism

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    Objective To assess whether UGT1A1 promoter polymorphisms associated with Gilbert Syndrome (GS) occur with a greater frequency in neonates with severe hyperbilirubinemia. Study design In a case-control study performed at a single hospital center in Italy, 70 case subjects with severe hyperbilirubinemia (defined as bilirubin level $20 mg/dL or 340 mmol/L) and 70 controls (bilirubin level <12 mg/dL or 210 mmol/L) were enrolled. Both case and control subjects were full term newborns. Polymerase chain reaction analysis on blood spot was performed to determine the frequency of UGTA1A1 promoter polymorphisms in cases and controls. Results No statistical difference in the prevalence of UGTA1A1 gene variants was found between cases and controls (P = 1). Thirteen infants homozygous for (TA)7 polymorphism associated with GS were in the case group (18.6%) and 14 in the control group (20.0%). A heterozygous groups was also equally distributed between cases (44.3%) and controls (42.9%). No (TA)8 repeat was found in the 2 groups. Conclusions In our study population, GS polymorphism alone does not appear to play a major role in severe neonatal hyperbilirubinemia in neonates without signs of hemolysis

    La porpora di Schoenlein-Henoch

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    Henoch-Sch\uf6nlein purpura (HSP) is the most common vasculitic disease of childhood. HSP is a multisystem immunoglobulin A-mediated vasculitis with a self-limited course usually affecting the skin, joints, gastrointestinal tract, and kidneys. HSP occurs most often in children before the age of 10 years, and classically presents with a unique distribution of the rash to the lower extremities and the buttocks. One third of these patients will have one or more recurrences of symptoms, usually within 6 weeks, but they may occur as late as 18 months later. The overall prognosis in HSP is excellent, but the long-term morbidity depends mainly on the renal involvement. In our opinion, actually, there are no data to recommend the routine use of corticosteroids in the management of uncomplicated HSP, in both the acute and chronic settings
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