RESUMO
The aim of this study was to investigate the genotypic distribution of organic anion transporting polypeptide 2 (OATP-2) gene mutations and the relationship with hyperbilirubinemia of unknown etiology. Polymerase chain reaction, restriction fragment length polymorphism, and agarose gel electrophoresis techniques were used for detection of OATP-2 gene mutations in 155 newborn infants: 37 with unexplained hyperbilirubinemia, 65 with explained hyperbilirubinemia, and 53 without hyperbilirubinemia. In the OATP-2 gene, we identified AâG transitions at nucleotide positions 388 and 411 and observed six polymorphic forms. The 388/411-411 mutation was the most common form (43%) in subjects with hyperbilirubinemia of unknown etiology. Male sex [odds ratio (OR): 3.08] and two polymorphic forms of the OATP-2 gene [the 388/411-411 AâG mutation (OR: 3.6) and the 388-411 mutation (OR: 2.4)] increased the risk of neonatal hyperbilirubinemia. In male infants with the 388 AâG mutation of the OATP-2 gene, the levels of unconjugated bilirubin in plasma were significantly increased compared with those observed in females. The polymorphic forms of 388 nucleotide of the OATP-2 gene were identified as risk factors for hyperbilirubinemia of unknown etiology.
Assuntos
Hiperbilirrubinemia Neonatal/genética , Transportador 1 de Ânion Orgânico Específico do Fígado/genética , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , Feminino , Deficiência de Glucosefosfato Desidrogenase/complicações , Humanos , Hiperbilirrubinemia Neonatal/enzimologia , Hiperbilirrubinemia Neonatal/etiologia , Recém-Nascido , Modelos Logísticos , Masculino , Mutação , Razão de Chances , Fatores Sexuais , TurquiaRESUMO
We conducted this study to investigate the efficacy of the silicon gel application on the nares in prevention of nasal injury in preterm infants ventilated with nasal continuous positive airway pressure (NCPAP). Patients (n=179) were randomized into two groups: Group 1 (n=87) had no silicon gel applied to nares, and in Group 2 (n=92), the silicon gel sheeting was used on the surface of nares during ventilation with NCPAP. Nasal injury developed in 13 (14.9%) neonates in Group 1 and 4 (4.3%) newborns in Group 2 (OR:3.43; 95% CI: 1.1-10.1; P<0.05). The incidence of columella necrosis was also significantly higher in the Group 1 (OR: 6.34; 95% CI: 0.78-51.6; P<0.05). We conclude that the silicon gel application may reduce the incidence and the severity of nasal injury in preterm infants on nasal CPAP.