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STOX1 gene Y153H polymorphism is associated with early-onset preeclampsia in Turkish population.

STOX1基因Y153H多态性与土耳其人群早发型子痫前期相关。

  • 影响因子:2.60
  • DOI:10.1016/j.gene.2020.144894
  • 作者列表:"Pinarbasi E","Cekin N","Bildirici AE","Akin S","Yanik A
  • 发表时间:2020-09-05
Abstract

:Preeclampsia (PE) is a disease of pregnancy that causes of maternal and prenatal morbidity worldwide. Studies indicate that variations in STOX1 gene may be a direct risk factor to PE but controversial results regarding the relationship of Y153H variation in the second exon of STOX1 gene with PE have been ongoing since 2005. The aim of this study was to identify if there is any correlation between Y153H polymorphisms and PE in Turkish preeclampsia patients. We performed polymerase chain reaction- restriction fragment lengthpolymorphism(PCR-RFLP) analysis in 500 pregnant women, of whom 373 pregnant women with early onset PE (EOPE) and 500 normal pregnant women. The relationship between STOX1 Y153H polymorphism and EOPE/LOPE was evaluated by statistical analysis. We found that STOX1 Y153H polymorphism is a risk factor for EOPE (p = 0.03). The odds ratio was 1,45 (CI 95% = 1,03-2,05). No relationship between STOX1 Y153H polymorphisms and LOPE (p = 0.13) was found. STOX1 gene Y153H polymorphism is associated with the risk ofearly onset of pre-eclampsiain a Turkish population. The results provide further evidence of the role of STOX1 in the pathophysiology of this disease.

摘要

: 先兆子痫 (PE) 是一种导致全球孕产妇和产前发病率的妊娠疾病。研究表明,STOX1基因的变异可能是PE的直接危险因素,但关于STOX1基因第二外显子Y153H变异与PE的关系的争议结果自2005年以来一直在进行。本研究的目的是确定土耳其先兆子痫患者中Y153H多态性与PE之间是否存在任何相关性。我们对500例妊娠妇女进行了聚合酶链反应-限制性片段长度多态性 (pcr-rflp) 分析,其中373例为早发型PE (EOPE) 孕妇,500例为正常孕妇。通过统计学分析评估STOX1 Y153H多态性与EOPE/LOPE的关系。我们发现STOX1 Y153H多态性是EOPE的危险因素 (p = 0.03)。比值比为1,45 (CI 95% = 1,03-2,05)。没有发现STOX1 Y153H多态性与LOPE (p = 0.13) 之间的关系。在土耳其人群中,STOX1基因Y153H多态性与早发先兆子痫的风险相关。该结果进一步证明了STOX1在该疾病的病理生理学中的作用。

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METHODS::Background: The exact cause of preeclampsia remains unknown. The past decade has seen an ongoing debate on the relative importance of primipaternity versus prolonged birth/pregnancy interval.Aims: The aim of the current study was to analyze these two major potential risk factors in a high risk population in the Northern suburbs of Adelaide; a socioeconomically disadvantaged area characterized by instable relationships and overall poor health and lifestyle.Methods: A retrospective cohort study was performed on all multigravid women birthing at the Lyell McEwin Hospital, Adelaide, from July 2011 to August 2012; 2003 patients were included in this analysis. Basic demographic data, previous pregnancy outcomes, paternity, and birth and pregnancy intervals were recorded.Results: Women with a previously normal pregnancy had a significantly increased risk of developing preeclampsia in subsequent pregnancy with a new paternity (OR: 2.27 [p = .015]). Increasing birth and pregnancy intervals were associated with a significantly increased risk of developing preeclampsia in later pregnancies, with OR 1.39 at 3 years (p = .042) and OR 2.05 at 4 years (p = .002).Conclusions: The results of this study indicate that both prolonged birth interval and primipaternity are independent risk factors for preeclampsia in multigravidae.

翻译标题与摘要 下载文献
影响因子:1.44
发表时间:2020-01-01
DOI:10.1080/14767058.2018.1484097
作者列表:["Lapoirie J","Contis A","Guy A","Lifermann F","Viallard JF","Sentilhes L","James C","Duffau P"]

METHODS::Introduction: Philadelphia-negative myeloproliferative neoplasms (MPNs) greatly increase the risk of maternal and fetal complications during pregnancy. Currently, international agreements regarding the management of these women are lacking.Patients and methods: Our study aimed to assess the current management and outcomes of MPN pregnancies in a French cohort. We retrospectively analyzed 27 pregnancies in women with MPNs that were associated with a specific mutation. Nineteen pregnancies in nine women with essential thrombocythemia and eight pregnancies in five women with polycythemia vera were identified.Results: Our study showed 70% live births, but only 30% uneventful pregnancies. Fetal complications were mainly early spontaneous abortions (22%), fetal growth restriction (15%), and premature delivery (15%). Maternal issues were divided between thrombosis (15%) and hemorrhages (11%). High rates of preeclampsia and hemolysis, elevated liver enzymes, and low platelet count syndrome (15%) were reported. Uterine artery Doppler was performed in 70% pregnancies. Abnormal Doppler results were found in 43% pregnancies. Pregnancies with high platelet counts and packed cell volume remaining static or increasing ended with fetal death and utero-placental dysfunction. According to expert consensus, most of the pregnancies (67%) could be stratified in the high risk group and had a bad obstetrical outcome, with 50% standard-risk pregnancies versus 22% high-risk pregnancies that were uneventful. Higher risk pregnancies were prescribed heparin and/or interferon α in 72%.Conclusions: The prognosis of these pregnancies remains very bad and may be improved by a more effective collaboration between specialists as well as a therapeutic intensification including heparin and interferon α.

影响因子:1.44
发表时间:2020-02-01
DOI:10.1080/14767058.2018.1495191
作者列表:["Capriglione S","Plotti F","Terranova C","Gulino FA","Di Guardo F","Lopez S","Scaletta G","Angioli R"]

METHODS::Purpose: The challenge to obtain improved predictive tools, able to identify women destined to develop preeclampsia (PE), is raising the interest of researchers for the attractive chance to allow for timely initiation of prophylactic therapy, appropriate antenatal surveillance, and better-targeted research into preventive interventions. We aimed to gather all the evidence reported up to now in scientific literature relating to all prediction tests for PE.Materials and methods: We searched articles on conventional literature platforms from January 1952 to August 2016, using the terms "preeclampsia," "gestational preeclampsia," and "gestational hypertensive disorders" combined with "predictive test" and "risk assessment." Abstracts/titles identified by the search were screened by three investigators.Results: The search identified 203 citations, of which 154 potentially relevant after the initial evaluation. Among these studies, 20 full articles were excluded, therefore, 134 primary studies met the criteria for inclusion and were analyzed.Conclusions: Current evidence suggests that a combination of several features may provide the best predictive accuracy for the identification of PE. Large-scale, multicenter, multiethnic, prospective trials are required to propose an ideal combination of markers for routine screening.

翻译标题与摘要 下载文献
妊娠高血压方向

妊娠高血压是妊娠期妇女所特有而又常见的疾病,以高血压、水肿、蛋白尿、抽搐、昏迷、心肾功能衰竭,甚至发生母子死亡为临床特点。妊娠高血压综合征按严重程度分为轻度、中度和重度,重度妊娠高血压综合征又称先兆子痫和子痫,子痫即在高血压基础上有抽搐。

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