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| 1 | Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders显示文摘神经祖先房间经历体的 retrotransposition 事件,主要包含 L1 元素,它能是潜在地有害的。这里,我们分析 20 件大脑样品和 80 件非大脑样品的整个染色体,并且描绘了许多 neurodevelopmental 混乱包括 Rett 症候群,有块茎的硬化,混乱毛细管扩张和孤独性影响的病人的 retrotransposition 风景。我们比在病理学对正常的大脑在非大脑样品并且甚至更高观察了的报导在大脑纸巾的 retrotranspositions 的数字高。体的大脑 retrotransposons 的多数把重复元素集成到先存在,优先地, A/T 富有的 L1 定序,导致嵌套的插入。我们的调查结果文件在 L1 大脑插入事件的多数的编码 endonuclease 独立人士机制的指纹。插入是非古典的因为他们在两结束被截断,当主人元素,和他们的目标序列与大多数另外的 retrotranspositions 的古典 endonuclease 主题相对照与一个 CCATT 主题被充实,在一样的取向集成。我们显示出元素优先地集成到与神经功能和疾病联系的基因的那 L1Hs。当保卫免于有害事件时,我们为新奇插入作为闪电杆建议那先存在的 retrotransposons 行为,它可以给基因表示的好调整。压倒性地不受管束的 retrotransposition 可以突破这保护措施机制并且在 neurodevelopmental 混乱增加有害 mutagenesis 的风险。 | Jasmine Jacob-Hirsch Eran Eyal Binyamin A Knisbacher Jonathan Roth Karen Cesarkas Chen Dor Sarit Farage-Barhom Vered Kunik Amos J Simon Moran Gal Michal Yalon Sharon Moshitch-Moshkovitz Rick Tearle Shlomi Constantini Erez Y Levanon Ninette Amariglio Gideon Rechavi | 2018 | Cell Research2018，28，2： | 1 |
| 2 | Use of prostate-specific antigen testing in Medicare beneficiaries:Association with previous evaluation显示文摘Objective:Determine uptake of prostate-specific antigen(PSA)testing in Medicare benefi-ciaries according to previous receipt of PSA testing.Methods:A 5%random sample of men aged 67 years or older without a previous diagnosis of prostate cancer was identified through 2009-2012 Medicare claims.We measured the annualized frequency of PSA screening among men due for PSA testing,stratified by PSA testing use in the previous 2 years,and clustered by ordering provider.Results:Throughout the study period,PSA testing use was consistently higher for men with previous screening than for men without previous screening.For men without previous screening,there was a decline in testing that was most pronounced in 2012.Compared with 2009,the cor-responding odds ratios were 0.98[95%confidence interval(CI)(0.96-1.00)]in 2010,0.94[95%CI(0.92-0.95)]in 2011,and 0.66[95%CI(0.65-0.68)]in 2012.In contrast,for men with previous screening,PSA testing frequency was stable from 2009 to 2011,and declined to a lesser extent in 2012[odds ratio 0.80,95%CI(0.79-0.81)].Conclusion:Receipt of PSA testing is highly dependent on whether an individual was tested in the recent past.In previously unscreened men,the largest decrease occurred in 2012,which may reflect in part the publication of US Preventive Services Task Force guidelines,but there was much less impact among men already being screened. | Gregory S.Cooper Tzuyung Doug Kou Mark D.Schluchter Avi Dor Siran M.Koroukian Simon P.Kim | 2017 | Family Medicine and Community Health2017，5，2： | 0 |
| 3 | Stigma and its impact on the families of former soldiers of the German Armed Forces: An exploratory study显示文摘Background: Military families who have a family member with a mental illness see themselves confronted with many demands. Stigmatization is one of these challenges. Stigmatization affects not only the individual who suffers from a mental illness but also other family members via stigma by association and vicarious stigma. Stigma by association occurs when mental illness stigma spills over to individuals associated with an individual with a mental illness. Vicarious stigma describes the suffering of family members when they note the impact of stigma on their relative with mental illness. As a societal phenomenon, stigma plays out in social interactions and might therefore influence the social networks of families. It is also associated with healthcare utilization.Methods: Narrative interviews were conducted with 15 family members(partners, spouses, parents and children) of former soldiers of the German Armed Forces with a service-induced mental illness. The transcribed interview data were analyzed using a thematic analysis approach, in which codes were formed and emerging themes were systemized. Relationships between stigma, the families’ reactions to it, its effects on their social relationships and its interference with their healthcare utilization were analyzed.Results: This study provides a detailed description of how relatives of former German soldiers with mental health problems experience stigma by association and vicarious stigma. Their perceptions are shown in a model that describes stigma-related attitudes, reactions to them and their effects on the social relationships of former soldiers’ families. These families felt stigmatized because of the former soldiers’ mental illness(mental illness stigma) and the military context in which it occurred(former soldier stigma). They reacted with nondisclosure, anger, acceptance and self-blame. Stigma was associated with smaller and weaker social networks that were characterized by social exclusion, self-segregation and conflicts with extended family, friends and colleagues. Stigma also affected the families’ healthcare utilization.Conclusions: Urgently needed anti-stigma campaigns, particularly in the civilian context, should address the stigmatization of both mental illness and the military participation of the families affected. They should consider the needs of both former soldiers with a mental illness and their families. | Katrin Schuy Simone Dors Loni Brants Marie Horzetzky Gerd Willmund Andreas Strohle Peter Zimmermann Heinrich Rau Stefan Siegel | 2019 | Military Medical Research2019，6，2： | 0 |
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