Ito Y.,National Health Research Institute |
Ito Y.,Jikei University School of Medicine |
Maehara K.,National Health Research Institute |
Kaneki E.,Kyushu University |
And 16 more authors.
Gynecologic and Obstetric Investigation | Year: 2016
Aim: This study aimed to clarify the genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients. Methods: Four Japanese isolated RHM cases were analyzed using whole-exome sequencing. Villi from RHMs were collected by laser microdissection for genotyping and DNA methylation assay of differentially methylated regions (DMRs). Single nucleotide polymorphisms of PEG3 and H19 DMRs were used to confirm the parental origin of the variants. Results: A novel homozygous nonsense mutation in NLRP7 (c.584G>A; p.W195X) was identified in 1 patient. Genotyping of one of her molar tissue revealed that it was biparental but not androgenetic in origin. Despite the fact that the RHM is biparental, maternally methylated DMRs of PEG3, SNRPN and PEG10 showed complete loss of DNA methylation. A paternally methylated DMR of H19 retained normal methylation. Conclusions: This is the first Japanese case of RHM with a novel homozygous nonsense NLRP7 mutation and a specific loss of maternal DNA methylation of DMRs. Notably, the mutation was identified in an isolated case of an ethnic background that has not previously been studied in this context. Our data underscore the involvement of NLRP7 in RHM pathophysiology and confirm that DNA methylation of specific regions is critical. © 2015 S. Karger AG, Basel.
Miyagawa I.,Tottori University |
Ohata R.,Red Cross |
Sasaki N.,Red Cross |
Koumi T.,Red Cross |
And 7 more authors.
Nishinihon Journal of Urology | Year: 2011
Nocturia causes sleep disturbance, which has been associated with impairment of daytime activity and QOL (quality of life). Deep sleep should appear by three hours after bedtime. It is thought that an adequate duration of sleep until the 1st voiding after bedtime is important for health, and contributes towards maintaining a patient's good QOL. The present study investigated whether the a 1-adrenoceptor blocker, naftopidil, prolongs the duration of sleep. Naftopidil was administered to patients with nocturia associated with benign prostatic hyperplasia for a period of 12 weeks. Nighttime frequency and duration of sleep until the 1st voiding after bedtime were evaluated by a micturition time chart, and international prostate symptom score (IPSS) and QOL score were also assessed at 12 weeks after administration. After treatment by naftopidil for 12 weeks in 15 patients, nighttime frequency was decreased significantly from 2.9 ± 1.5 to 2.1 ± 1.1 times (p < 0.01) and duration of sleep until the 1st voiding after bedtime was significantly prolonged from 114.7 ± 56.6 to 157.7 ± 66.5 minutes (p < 0.05). Furthermore naftopidil significantly improved IPSS (from 18.3 ± 6.7 to 12.1 ± 7.4, p < 0.01) and QOL score (from 4.5 ± 1.2 to 2.9 ± 1.2, p < 0.01). Naftopidil seems to improve both nocturia and duration of sleep until the 1st voiding after bedtime, which should improve not only the quality of sleep but also daytime activity.
Suzuki F.,Taniguchi Hospital
Nihon rinsho. Japanese journal of clinical medicine | Year: 2013
Smoking causes various health problems in women in relation to their life cycle. About the effects of smoking on obstetric and gynecological disorders, it is clarified that smoking has adverse effects on menopausal disorders, miscarriage, premature birth, low birth weight infant, breast cancer, uterine cancer and ovarian cancer. The high rate of smoking among women of reproductive age is of particular concern for the next generation because smoking affects not only the women themselves, but also the fetus. It is necessary to promote smoking prevention education to prevent women from developing a smoking habit and to provide smoking cessation education and support for smokers.
Sawa R.,Kobe University |
Doi T.,Center for Gerontology and Social Science |
Doi T.,Japan Society for the Promotion of Science |
Asai T.,Kobe Gakuin University |
And 3 more authors.
Gait and Posture | Year: 2015
The aim of this study was to compare gait characteristics, including the functional ability of the trunk, between women before and during the third trimester of pregnancy. Gait measurements were performed on 27 pregnant women, who were divided into two groups using the threshold of 28 gestational weeks. The subjects were instructed to walk at their preferred speed. In addition to stride-time coefficient of variation, root mean square (RMS) and autocorrelation coefficient, coefficient of attenuation (CoA) of acceleration was computed as an index to assess the functional ability of the trunk. Differences of gait characteristics between the groups were determined by the Mann-Whitney U test. Gait characteristics that showed a significant difference between the groups were further analyzed with adjustment by age, height, weight and gait velocity by using multiple regression analysis. Women during the third trimester of pregnancy showed significantly smaller RMS in the anteroposterior direction at the lower trunk than those before the third trimester of pregnancy, even after adjusting for age, height, weight and gait velocity [ β= 0.47; 95% confidence interval (CI) 0.07-0.25]. CoA in the anteroposterior direction was also significantly lower in women during the third trimester of pregnancy than in those before the third trimester of pregnancy after adjustment by age, height, weight and gait velocity (β. = 0.44; 95% CI 0.39-18.52). The present cross-sectional study suggests the possibility that the functional ability of the trunk during gait declines in late pregnancy. © 2015 Elsevier B.V.
Sugimoto H.,Taniguchi Hospital |
Sugimoto H.,Kinki University |
Kida Y.,Kinki University |
Oh N.,Kinki University |
And 5 more authors.
Zygote | Year: 2015
We examined growing oocytes collected from follicles remaining in superovulated rabbit ovaries, that were grown (in vitro growth, IVG) and matured (in vitro maturation, IVM) in vitro. We produced somatic cell nuclear transfer (SCNT) embryos using the mature oocytes and examined whether these embryos have the ability to develop to the blastocyst stage. In addition, we examined the effects of trichostatin A (TSA), a histone deacetylase inhibitor (HDACi), on the developmental competence of SCNT embryos derived from IVG-IVM oocytes. After growth for 7 days and maturation for 14-16 h in vitro, the growing oocytes reached the metaphase II stage (51.4%). After SCNT, these reconstructed embryos reached the blastocyst stage (20%). Furthermore, the rate of development to the blastocyst stage and the number of cells in the blastocysts in SCNT embryos derived from IVG-IVM oocytes were significantly higher for TSA-treated embryos compared with TSA-untreated embryos (40.6 versus 21.4% and 353.1 ± 59.1 versus 202.5 ± 54.6, P < 0.05). These results indicate that rabbit SCNT embryos using IVG-IVM oocytes have the developmental competence to reach the blastocyst stage. Copyright © Cambridge University Press 2014.