MENA

MenA
  • 文章类型: Journal Article
    背景:中东和北非(MENA)地区预计将见证癌症负担的显着增加。与西方文学相反,MENA地区的心理肿瘤学负担尚待确定.本研究回顾了MENA地区癌症患者心理负担的所有可用证据。
    方法:我们系统地探索了PubMed/MEDLINE,Cochrane/CENTRAL,和WebofScience(WoS)数据库,用于报告2000年1月至2023年1月居住在MENA地区的癌症患者的精神病负担。使用随机效应模型提取和分析原始比例。
    结果:83项研究由16810名参与者组成,代表14个国家,符合我们的纳入标准。在中东和北非地区,抑郁症的患病率,焦虑,和痛苦为44%(95%CI,39%-50%),47%(95%CI,40%-54%),和43%(95%CI,30%-56%),分别。不同国家的抑郁症患病率有显著差异,巴勒斯坦(73%;95%CI,42%-91%)报告率最高,摩洛哥(23%;95%CI,7%-56%)报告率最低。同样,中东和北非地区国家的焦虑显著不同,从摩洛哥的64%(95%CI,3%-99%)到突尼斯的28%(95%CI,18%-42%)。不同测量工具的抑郁和焦虑率显着不同,但讲阿拉伯语的国家与讲波斯语的国家之间没有差异。Meta回归模型显示,发表年份和年龄均不影响焦虑和抑郁的患病率(抑郁的P=.374和.091,焦虑的P=.627和.546,分别)。
    结论:我们报告了MENA地区癌症患者的精神病负担异常高。因此,在中东和北非地区建立适当的心理肿瘤干预措施至关重要.
    BACKGROUND: The Middle East and North Africa (MENA) region is expected to witness a significant increase in the burden of cancer. Contrary to Western literature, the burden of psycho-oncology is yet to be established within the MENA region. This study reviews all available evidence characterizing the psychological burden among patients with cancer across the MENA region.
    METHODS: We systematically explored the PubMed/MEDLINE, Cochrane/CENTRAL, and Web of Science (WoS) databases for reports on the psychiatric burden among patients with cancer residing within the MENA region from January 2000 until January 2023. Raw proportion were extracted and analyzed using a random-effects model.
    RESULTS: Eighty-three studies comprised of 16 810 participants, representing 14 countries, met our inclusion criteria. Across the MENA region, the prevalence of depression, anxiety, and distress were 44% (95% CI, 39%-50%), 47% (95% CI, 40%-54%), and 43% (95% CI, 30%-56%), respectively. Prevalence of depression was significantly different across countries, with Palestine (73%; 95% CI, 42%-91%) reporting the highest rate while Morocco (23%; 95% CI, 7%-56%) reported the lowest. Similarly, anxiety significantly differed across MENA nations ranging from 64% (95% CI, 3%-99%) in Morocco to 28% (95% CI, 18%-42%) in Tunisia. Rates of depression and anxiety were significantly different across measurement tools but not between Arabic-speaking versus Persian/Farsi-speaking countries. Meta-regression models showed that neither publication year nor age affected the prevalence of both anxiety and depression (P = .374 and .091 for depression and P = .627, and .546 for anxiety, respectively).
    CONCLUSIONS: We report an abnormally high rate of psychiatric burden among patients with cancer in the MENA region. Thus, establishing appropriate psycho-oncologic interventions within the MENA region is of utmost importance.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    对中东和北非(MENA)血统的外国出生成年人使用健康信息技术(HIT)的研究不足。MENA美国人目前在美国(US)的联邦表格上被归类为“白人”。我们的目的是在调整协变量之前和之后,发现MENA移民与美国和外国出生的白人成年人相比使用HIT的患病率。分析了2011-2018年全国健康访谈调查数据(n=161,613;年龄18岁以上)。评估的HIT用途是搜索健康信息,填写处方,安排约会,并通过电子邮件与医疗保健提供者沟通(过去12个月)。使用粗和多变量逻辑回归模型来估计每次HIT使用的几率(搜索健康信息,填写处方,安排约会,和/或通过电子邮件与医疗保健提供者沟通),以及调整前后任何HIT的整体使用。最常见的HIT使用是查找健康信息(46.4%的外国出生的MENA,47.8%的外国出生的白人,51.2%美国出生的白人;p=0.0079)。MENA血统的外国出生成年人报告任何HIT使用的几率较低(OR=0.64;95%CI=0.56-0.74),但与美国出生的白人成年人相比,报告所有HIT使用情况没有差异。这是第一项探索MENA美国人使用HIT的研究。结果有助于越来越多的文献表明MENA美国人的健康状况与白人美国人不同。需要单独的种族/族裔标识符,以更好地捕获中东和北非地区血统人群中的HIT使用。
    Health information technology (HIT) use among foreign-born adults of Middle Eastern and North African (MENA) descent is understudied. MENA Americans are currently categorized as \"White\" in the United States (US) on federal forms. Our purpose was to uncover the prevalence of HIT use among MENA immigrants compared to US- and foreign-born White adults before and after adjusting for covariates. The 2011-2018 National Health Interview Survey data (n = 161,613; ages 18 + years) were analyzed. HIT uses evaluated were searching for health information, filling prescriptions, scheduling appointments, and communicating with healthcare providers via email (last 12 months). Crude and multivariable logistic regression models were used to estimate the odds of each HIT use (searching for health information, filling prescriptions, scheduling appointments, and/or communicating with healthcare providers via email), and overall use of any HIT before and after adjustment. The most common HIT use was looking up health information (46.4% foreign-born MENA, 47.8% foreign-born White, 51.2% US-born White; p = .0079). Foreign-born adults of MENA descent had lower odds (OR = 0.64; 95% CI = 0.56-0.74) of reporting any HIT use, but no difference in reporting all HIT uses compared to US-born White adults. This is the first study to explore HIT use among MENA Americans. Results contribute to growing body of literature showing the health of MENA Americans differs from White Americans. A separate racial/ethnic identifier is needed to better capture HIT uses among populations of MENA descent.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    肾癌,一种泌尿生殖系统癌症,给患者带来很高的负担。尽管如此,最近没有研究评估中东和北非(MENA)地区此类癌症的负担.这项研究根据年龄探讨了1990年至2019年肾癌的负担,性别和社会人口指数(SDI)。2019年全球疾病负担(GBD)数据被用来估计发病率,死亡,和由肾癌引起的残疾调整寿命年(DALYs)。这些估计报告为计数和年龄标准化率,不确定性区间为95%(UI)。估计的年龄标准化发病率,死亡率,2019年肾癌的DALY发病率为3.2(2.8-3.6),1.4(1.2-1.6),和每100,000分别为37.2(32.0-42.6)。在1990年至2019年期间,这些比率增加了98.0%,48.9%,和37.7%,分别。2019年,阿拉伯联合酋长国,卡塔尔,黎巴嫩的年龄标准化发病率最高,死亡率,和DALY费率。最小的年龄标准化发病率出现在也门,阿富汗,和阿拉伯叙利亚共和国。此外,在阿拉伯叙利亚共和国观察到最小的年龄标准化死亡率和DALY率,也门,摩洛哥。在75-79岁的男性和女性中,发病率最高。2019年,MENA/GlobalDALY比率超过5-19岁女性和5-14岁男性的1,而男性为1990岁。从1990年到2019年,随着SDI水平的增加,肾癌的负担持续上升。肾癌负担的增加凸显了对旨在改善该地区早期诊断和治疗的干预措施的迫切需要。
    Kidney cancer, a type of urogenital cancer, imposes a high burden on patients. Despite this, no recent research has evaluated the burden of this type of cancer in the Middle East and North Africa (MENA) region. This study explored the burden of kidney cancer from 1990 to 2019 according to age, sex and socio-demographic index (SDI). The Global Burden of Disease (GBD) 2019 data was utilized to estimate the incidence, death, and disability-adjusted life-years (DALYs) caused by kidney cancer. These estimates were reported as counts and as age-standardised rates with 95% uncertainty intervals (UIs). The estimated age-standardised incidence, mortality, and DALY rates of kidney cancer in 2019 were 3.2 (2.8-3.6), 1.4 (1.2-1.6), and 37.2 (32.0-42.6) per 100,000, respectively. Over the period from 1990 to 2019, these rates have increased by 98.0%, 48.9%, and 37.7%, respectively. In 2019, the United Arab Emirates, Qatar, and Lebanon had the largest age-standardised incidence, mortality, and DALY rates. The smallest age-standardised incidence rates were seen in Yemen, Afghanistan, and the Syrian Arab Republic. Additionally, the smallest age-standardised mortality and DALY rates were observed in the Syrian Arab Republic, Yemen, and Morocco. The highest incidence rates were found among individuals aged 75-79 in both males and females. In 2019, the MENA/Global DALY ratio exceeded one for females aged 5-19 age and males aged 5-14, compared to 1990age groups in males. The burden of kidney cancer consistently rose with increasing SDI levels from 1990 to 2019. The increasing burden of kidney cancer highlights the urgent need for interventions aimed at improving early diagnosis and treatment in the region.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    地中海国家经常受到沙漠沙尘暴的影响,对环境和公共卫生有重大影响。我们比较了塞浦路斯沙漠粉尘和非粉尘日期间空气中的粒子放射性水平。总悬浮颗粒(TSP)样品的总α-和β-放射性,在利马索尔和尼科西亚的两个城市常规监测站收集,分别适用于2017-2020年和2008-2020年。放射性核素137Cs和40K,从TSP样本中,在2008-2020年期间,也可以从尼科西亚的半工业监测站获得。关于沙漠尘埃存在的信息,灰尘起源,颗粒物(PM)水平,并获得了太阳活动(KP指数和太阳黑子数-SSN)。我们使用线性回归模型来调整季节性和长期趋势,和太阳活动来评估沙尘暴对TSP总α-和β-的影响,和137Cs和40K放射性水平。总α-和β-放射性,与没有沙漠尘埃影响的日子相比,在有沙漠尘埃的日子里,137Cs和40K的放射性水平明显更高。当来自中东沙漠的尘埃比来自撒哈拉沙漠的尘埃天时,尘埃天的总α和β放射性水平更高。对于137Cs与40K的比率和137Cs与PM10的比率观察到相同的趋势。相反,与没有粉尘影响的日子相比,在沙漠粉尘天,TSP总α-和β-放射性与PM10的比率显着降低。这项研究表明,沙漠灰尘增加了TSP总α-和β-放射性,以及137Cs和40K放射性水平。进一步的研究应澄清人为和其他自然来源对粒子放射性排放或运输的贡献,以更好地减轻未来的风险。
    Mediterranean countries are often affected by desert dust storms, which have significant effects on the environment and public health. We compared airborne particle radioactivity levels during desert dust and non-dust days in Cyprus. Gross α- and β-radioactivity from Total Suspended Particle (TSP) samples, collected at two urban routine monitoring stations in Limassol and Nicosia, were available for the period 2017-2020 and 2008-2020, respectively. Radionuclides 137Cs and 40K, from TSP samples, were also available from a semi-industrial monitoring station in Nicosia during 2008-2020. Information on desert dust presence, dust origin, particulate matter (PM) levels, and solar activity (KP index and solar sunspot numbers - SSN) were also obtained. We used linear regression models adjusting for seasonality and long-term trends, and solar activity to assess the effect of dust storms on TSP gross α- and β-, and 137Cs and 40K radioactivity levels. Gross α- and β-radioactivity, and 137Cs and 40K radioactivity levels were significantly higher on days with desert dust compared to days characterized with no influence of desert dust. Levels of gross α- and β-radioactivity during dust days were higher when dust originated from the Middle East deserts than from the Sahara Desert. The same trend was observed for the ratios 137Cs to 40K and 137Cs to PM10. Conversely, ratios of TSP gross α- and β-radioactivity to PM10 were significantly lower during desert dust days in comparison to days without dust influence. This study suggests that desert dust increase both TSP gross α- and β-radioactivity, as well as 137Cs and 40K radioactivity levels. Further studies should clarify the contribution of anthropogenic and other natural sources to the emission or transportation of particles radioactivity, to better mitigate future exposures.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:妇科癌症对患有或曾经患有这种疾病的女性的性行为有负面影响。事实上,妇科癌症会导致女性性行为的负面变化,影响身体形象和心理生理健康,对女性的性生活造成严重后果。
    目的:本研究的目的是分析在欧洲、中东和北非(MENA)患有或曾经患有妇科癌症的女性之间的性别差异。我们还探讨了在比较的两个人群中可能影响女性性行为的可能因素。
    方法:使用PubMed和GoogleScholar进行文献检索,考虑到2013年至2023年的10年期间。研究最初是根据标题和摘要是英文的标准选择的。然后,我们回顾了第一阶段选择的所有文章,并分析了以下信息:作者,出版年份,妇科癌症的类型,进行研究的国家,设计,和使用的材料。最后,我们定义了本论文的纳入标准:18岁或以上的女性,被诊断为妇科癌症,接受过治疗(手术,化疗,放射治疗)。审查的研究是2013年至2023年在欧洲和MENA进行的,都分析了疾病后的性功能,理解为包括生理和心理方面的一般维度。
    结果:这项研究的结果表明,两个地理区域(欧洲和MENA)的患者都报告了由于癌症而导致的性行为变化。研究表明,癌症减少,中断,损害女性的性活动,导致不适的经历,焦虑,内疚,内疚不足,疼痛,和较差的生活质量。
    结论:这篇综述中分析的数据显示,癌症在所研究的两个人群中都会导致性行为的改变和恶化。没有发现文化或社会因素导致两个人群中研究的变量之间的差异。在未来,进行进一步的研究以改善妇科癌症妇女的治疗可能会很有趣,因为性是一个人生活中非常重要的一部分。
    BACKGROUND: Gynecologic cancer has a negative impact on the sexuality of women who are or have been affected by this disease. In fact, gynecologic cancers cause negative changes in female sexuality, affecting body image and psychophysical well-being, with serious consequences for women\'s sex lives.
    OBJECTIVE: The aim of this study is to analyze the differences in sexuality among women who have or have had gynecologic cancer in Europe and in the Middle East and North Africa (MENA). We also explored possible factors that may influence women\'s sexuality in the 2 populations compared.
    METHODS: The literature search was carried out using PubMed and Google Scholar, considering the 10-year period of 2013 to 2023. Studies were initially selected according to the criterion that the title and abstract were in English. We then reviewed all the articles selected in the first phase and analyzed the following information: author, year of publication, type of gynecologic cancer, country in which the study was conducted, design, and materials used. Finally, we defined the inclusion criteria for the present paper: women 18 years of age or older, diagnosed with gynecologic cancer, and who had undergone treatment (surgery, chemotherapy, radiotherapy). The studies reviewed were conducted between 2013 and 2023 in Europe and MENA, and all analyzed sexual function after the disease, understood as a general dimension that includes physiological and psychological aspects.
    RESULTS: The results of this research show that patients in both geographical areas (Europe and MENA) report changes in sexuality as a result of the cancer. Studies show that cancer reduces, interrupts, and impairs women\'s sexual activity, resulting in experiences of discomfort, anxiety, guilt, inadequacy, pain, and poorer quality of life.
    CONCLUSIONS: The data analyzed in this review show that cancer causes changes and deterioration in sexuality in both populations studied. No cultural or social factors were found to cause differences between the variables studied in the 2 populations. In the future, it may be interesting to carry out further studies to improve the treatment of women with gynecologic cancer, as sexuality is a very important part of a person\'s life.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:银屑病患者的误解通常会对疾病结局产生负面影响。
    目的:我们的主要目标是在数据匮乏的中东和北非(MENA)地区的银屑病患者样本中进行知识评估。
    方法:本研究是一项横断面描述性调查。它包括一个在线问卷,其中包括19个旨在评估牛皮癣知识的问题和5个人口统计问题。问卷链接发布在KasrAlAiny银屑病股(KAPU)的官方Facebook页面上。
    结果:问卷由527名参与者进行,但只有396个应答是完整的,足以用于分析.女性(P=0.005)和受过高等教育的参与者(P<0.001)的平均银屑病知识得分较高。报告定期随访皮肤科医生的患者更有可能承认关节受累(P=0.044),但也错误地认为生物制剂是最终治愈(P=0.038)。此外,他们更有可能认为银屑病影响妊娠(P=0.013).有银屑病家族史的患者平均知识得分优于无银屑病家族史的患者(P=0.01)。只有54.55%的参与者报告了药物可能导致疾病恶化的知识。少数(26.77%)的患者回答说,改变饮食不能永久治愈牛皮癣。
    结论:本研究报告了一组讲阿拉伯语的银屑病患者的知识差距,特别是关于皮肤外受累的区域,这种疾病的遗传性,以及牛皮癣对妊娠和生育的影响。大多数参与者没有意识到生物疗法和饮食的改变并不能提供永久的治疗。我们地区的皮肤科医生必须与患者接触,并纠正本研究中报告的各种误解。
    BACKGROUND: Misconceptions among psoriatic patients often lead to a negative impact on disease outcomes.
    OBJECTIVE: Our main target was knowledge assessment among a sample of psoriatic patients in the Middle East and North Africa (MENA) region where data are scarce.
    METHODS: The present study is a cross-sectional descriptive survey. It consists of an online questionnaire comprising 19 questions designed to assess psoriasis knowledge and five demographic questions. The questionnaire link was posted on the official Facebook page of the Kasr Al Ainy Psoriasis Unit (KAPU).
    RESULTS: The questionnaire was taken by 527 participants, but only 396 responses were complete and adequate for analysis. The mean psoriasis knowledge score was higher in females (P = 0.005) and participants with advanced education degrees (P < 0.001). Patients reporting regular follow-ups with dermatologists were more likely to acknowledge joint involvement (P = 0.044) but also incorrectly assume biologics are a final cure (P = 0.038). In addition, they were more likely to assume psoriasis affects pregnancy (P = 0.013). Patients with a family history of psoriasis showed a better mean knowledge score than those without (P = 0.01). Only 54.55% of participants reported knowledge of possible disease exacerbation by drugs. A minority (26.77%) of our patients responded that a diet change could not permanently cure psoriasis.
    CONCLUSIONS: This study reports knowledge gaps in a cohort of Arabic-speaking psoriasis patients, especially regarding areas of extracutaneous involvement, the hereditary nature of the disease, and the effect of psoriasis on pregnancy and fertility. Most participants were unaware that biological therapy and a change in diet do not offer a permanent cure. Dermatologists in our region must reach out to their patients and correct the various misconceptions reported in this study.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:将人工智能(AI)集成到医疗保健中引起了重大的伦理问题。在药学实践中,人工智能提供了有希望的进步,但也带来了道德挑战。
    方法:在中东和北非(MENA)地区的国家对501名药学专业人员进行了横断面研究。一份12项在线问卷评估了与在药学实践中采用人工智能相关的道德问题。通过SPSSv.27软件使用适当的统计检验分析了与道德问题相关的人口统计学因素。
    结果:参与者对患者数据隐私表示担忧(58.9%),网络安全威胁(58.9%)潜在的工作位移(62.9%),缺乏法律法规(67.0%)。技术知识和基本AI理解与更高的关注分数相关(p<0.001)。伦理影响包括知情同意的必要性,仁慈,正义,和使用AI的透明度。
    结论:研究结果强调了道德准则的重要性,教育,以及患者在采用人工智能方面的自主权。协作,数据隐私,公平的获取对于在药学实践中负责任地使用人工智能至关重要。
    BACKGROUND: Integrating artificial intelligence (AI) into healthcare has raised significant ethical concerns. In pharmacy practice, AI offers promising advances but also poses ethical challenges.
    METHODS: A cross-sectional study was conducted in countries from the Middle East and North Africa (MENA) region on 501 pharmacy professionals. A 12-item online questionnaire assessed ethical concerns related to the adoption of AI in pharmacy practice. Demographic factors associated with ethical concerns were analyzed via SPSS v.27 software using appropriate statistical tests.
    RESULTS: Participants expressed concerns about patient data privacy (58.9%), cybersecurity threats (58.9%), potential job displacement (62.9%), and lack of legal regulation (67.0%). Tech-savviness and basic AI understanding were correlated with higher concern scores (p < 0.001). Ethical implications include the need for informed consent, beneficence, justice, and transparency in the use of AI.
    CONCLUSIONS: The findings emphasize the importance of ethical guidelines, education, and patient autonomy in adopting AI. Collaboration, data privacy, and equitable access are crucial to the responsible use of AI in pharmacy practice.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Preprint
    背景技术将人工智能(AI)集成到药学教育和实践中具有推进学习经验并为未来的药剂师准备不断发展的医疗保健实践的潜力。然而,它还提出了需要仔细解决的道德考虑。本研究旨在探讨药学专业学生对人工智能融入药学教育和实践的态度。方法采用横断面设计,利用经过验证的在线问卷,对702名来自不同人口背景的药学学生进行了调查。问卷收集了参与者对人工智能集成的态度和担忧的数据,以及人口统计信息和影响他们态度的因素。结果大多数参与者是女学生(72.8%),来自公立大学(55.6%)和不工作(64.2%)。参与者对人工智能整合普遍持消极态度,列举了患者数据隐私等担忧和障碍(62.0%),对黑客攻击的敏感性(56.2%),潜在的工作位移(69.3%),成本限制(66.8%),访问(69.1%)和缺乏法规(48.1%同意),培训(70.4%),医生不情愿(65.1%)和患者忧虑(70.8%)。包括居住国在内的因素,学年,累计GPA,工作状态,技术素养,和人工智能理解显著影响参与者的态度(p<0.05)。结论该研究强调了在药学课程中进行全面AI教育的必要性,包括相关的道德问题。解决学生的问题对于确保道德至关重要,公平,以及在药学教育和实践中有益的人工智能整合。
    UNASSIGNED: The integration of artificial intelligence (AI) into pharmacy education and practice holds the potential to advance learning experiences and prepare future pharmacists for evolving healthcare practice. However, it also raises ethical considerations that need to be addressed carefully. This study aimed to explore pharmacy students\' attitudes regarding AI integration into pharmacy education and practice.
    UNASSIGNED: A cross-sectional design was employed, utilizing a validated online questionnaire administered to 702 pharmacy students from diverse demographic backgrounds. The questionnaire gathered data on participants\' attitudes and concerns regarding AI integration, as well as demographic information and factors influencing their attitudes.
    UNASSIGNED: Most participants were female students (72.8%), from public universities (55.6%) and not working (64.2%). Participants expressed a generally negative attitude toward AI integration, citing concerns and barriers such as patient data privacy (62.0%), susceptibility to hacking (56.2%), potential job displacement (69.3%), cost limitations (66.8%), access (69.1%) and the absence of regulations (48.1% agree), training (70.4%), physicians\' reluctance (65.1%) and patient apprehension (70.8%). Factors including country of residence, academic year, cumulative GPA, work status, technology literacy, and AI understanding significantly influenced participants\' attitudes (p < 0.05).
    UNASSIGNED: The study highlights the need for comprehensive AI education in pharmacy curricula including related ethical concerns. Addressing students\' concerns is crucial to ensuring ethical, equitable, and beneficial AI integration in pharmacy education and practice.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Systematic Review
    过早卵巢功能不全(POI)是不孕症的主要原因,临床表现各不相同。POI是一种多因素疾病,具有环境和已知的遗传病因,但是中东和北非(MENA)地区与POI相关的遗传变异数据很少。这项研究的目的是系统地回顾MENA地区POI的所有已知遗传原因。
    PubMed,科学直接,ProQuest,和Embase数据库从开始到2022年12月进行了搜索,以查找MENA地区与POI相关的所有遗传变异报告.从符合条件的文章中收集临床和遗传数据,并搜索ClinVar和PubMed(dbSNP)的变体。
    在1,803项研究中,25符合纳入标准。15项研究是病例对照研究,10项是病例报告,总共代表1,080名非综合征性POI患者。在10个MENA国家中报道了与POI相关的25个基因中的79个变体。在79个变种中,46例罕见,33例常见变异。在46种罕见的变体中,根据ACMG分类指南和ClinVar,19为致病性或可能致病性。没有观察到明确的表型-基因型关联。携带致病变异的男性家庭成员也有不育问题。
    据我们所知,这是对MENA地区与POI相关的遗传变异的首次系统评价.需要进一步的功能研究来评估这些变异的致病分子机制。了解中东POI的遗传基础可以促进早期发现病情,从而早期实施治疗干预措施,为特定人群的精准医疗选择铺平了道路。
    UNASSIGNED: Premature ovarian insufficiency (POI) is a primary cause of infertility with variable clinical manifestations. POI is a multifactorial disease with both environmental and known genetic etiologies, but data on the genetic variations associated with POI in the Middle East and North Africa (MENA) region are scarce. The aim of this study was to systematically review all known genetic causes of POI in the MENA region.
    UNASSIGNED: The PubMed, Science Direct, ProQuest, and Embase databases were searched from inception to December 2022 for all reports of genetic variants associated with POI in the MENA region. Clinical and genetic data were collected from eligible articles, and ClinVar and PubMed (dbSNP) were searched for variants.
    UNASSIGNED: Of 1,803 studies, 25 met the inclusion criteria. Fifteen studies were case-control studies and ten were case reports representing 1,080 non-syndromic POI patients in total. Seventy-nine variants in 25 genes associated with POI were reported in ten MENA countries. Of the 79 variants, 46 were rare and 33 were common variants. Of the 46 rare variants, 19 were pathogenic or likely pathogenic according to ACMG classification guidelines and ClinVar. No clear phenotype-genotype association was observed. Male family members carrying pathogenic variants also had infertility problems.
    UNASSIGNED: To our best knowledge, this is the first systematic review of the genetic variants associated with POI in the MENA region. Further functional studies are needed to assess the disease-causing molecular mechanisms of these variants. Knowledge of the genetic basis of POI in the Middle East could facilitate early detection of the condition and thus early implementation of therapeutic interventions, paving the way for precision medicine options in specific populations.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    暂无摘要。
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号