Although the Y402H variant was not significantly associated with AMD, other coding and noncoding variants in the CFH gene including rs1410996 and smoking moderately influenced the risk of AMD in a Japanese population.
The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese patients. A total of 123 patients with AMD and 133 control subjects without AMD were recruited for this study. The single-nucleotide polymorphism (SNP) rs11200638 in the HTRA1 gene was assessed using a TaqMan assay. The risk A allele frequencies in the AMD cases and control patients were 0.577 and 0.380, respectively, and were associated with a significant risk of developing AMD (p=7.75·10 -6 ). The results were more significant in subtype analyses with wet AMD (p=5.96·10 -7 ). We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. This result supports the hypothesis that the HTRA1 gene may increase susceptibility to AMD development and can participate in a potential new molecular pathway for AMD pathogenesis by extending this association across diverse ethnicities.
Aim
Given the scarcity of relevant reports, this study aimed to elucidate whether pregnancy can be prolonged by maintaining the amniotic fluid volume with continuous transabdominal amnioinfusion (TA) for patients with mid‐trimester preterm premature rupture of membranes (PPROM) and oligoamnios.
Methods
We retrospectively examined patients who were managed during hospitalization at our department after developing PPROM between week 22 day 0 and week 25 day 6 of gestation and subsequent oligoamnios (amniotic fluid index [AFI] <5 cm) within 7 days after PPROM onset. Cases between 2006 and 2011 comprised the conventional management group (n = 14); cases administered continuous TA between 2012 and 2017 comprised the continuous TA group (n = 14). The primary outcome was the number of days between PPROM and delivery. The secondary outcomes were the proportion of normal amniotic fluid volume (AFI ≥ 5 cm) maintained between PPROM and delivery and the perinatal prognosis for the mother and infant.
Results
The continuous TA group had significantly more days between PPROM and delivery and a significantly higher proportion of days that a normal amniotic fluid volume was maintained during that period, regardless of antimicrobial agents administered. Although no significant differences in the perinatal prognosis of disease were found between groups, there was a decreasing trend of composite perinatal mortality and morbidity, and the incidence rates were reduced by half.
Conclusion
Continuous TA for PPROM with oligoamnios may allow significant prolongation of the gestation period while maintaining the amniotic fluid volume and may lead to improved perinatal prognosis.
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