• 文章类型: Journal Article
    背景:输血效率低下是一个重大挑战,导致关键血液资源的浪费和医疗费用的增加。本研究旨在通过对涉及无效临床输血的病例进行全面分析,并概述识别多种同种抗体在解决输血挑战中的重要性来解决这一问题。
    方法:我们对患者治疗过程进行了详细的随访,强调通过各种方法识别多种同种抗体在解决输血问题中的关键作用。随后,实施了战略干预,导致患者成功的结果。
    结论:本研究强调了对无效输血进行彻底分析并在合理解释的基础上实施科学制定的输血计划的重要性。这种方法不仅可以改善血红蛋白水平,还可以改善患者的预后。从而减少血液资源浪费和医疗费用。
    BACKGROUND: Inefficient blood transfusions present a significant challenge, leading to the wastage of crucial blood resources and increased medical expenses. This study aims to address this issue by providing a comprehensive analysis of a case involving an ineffective clinical transfusion and outlining the significance of identifying multiple alloantibodies in resolving transfusion challenges.
    METHODS: We present a detailed follow-up on a patient treatment journey, highlighting the critical role of identifying multiple alloantibodies through various methodologies in addressing the transfusion problem. Subsequently, a strategic intervention was implemented, leading to a successful patient outcome.
    CONCLUSIONS: This study underscores the importance of conducting a thorough analysis of ineffective transfusions and implementing scientifically formulated transfusion plans based on rational explanations. Such an approach not only improves hemoglobin levels but also contributes to better patient outcomes, thereby reducing blood resource wastage and medical costs.
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  • 文章类型: Journal Article
    梅毒,由梅毒螺旋体引起,正在全球范围内复苏。分子分型可以对其流行病学进行调查。在巴基斯坦和其他国家,T.苍白亚种。在过去的十年中,苍白球已经发展出广泛的大环内酯耐药性。白沙瓦地区血液中心于2020年6月至2021年6月进行的一项研究分析了开伯尔-普赫图赫瓦省32,812名献血者的血清样本。巴基斯坦,评估循环梅毒螺旋体菌株和抗生素耐药性。最初使用化学发光微粒免疫测定(CMIA)筛选血液样品的梅毒螺旋体抗体。CMIA反应样品进行了靶向polA的聚合酶链反应(PCR),tpp47,bmp,和tp0319基因。使用CDC开发的程序和tp0548基因检查进一步分析PCR阳性样品的分子亚型。分析所有PCR阳性样品中23SrRNA中A2058G和A2059G的点突变,以及16SrRNA中的G1058C突变。已知这些突变赋予对大环内酯类和多西环素的抗微生物抗性,分别。32,812份血清样本中,272(0.83%)为CMIA反应型,46为PCR阳性。确定了9种梅毒螺旋体亚型,主要是14d/f。在78%的病例中发现23SrRNA中的A2058G突变,而16SrRNA中的G1058C和23SrRNA中的A2059G缺失。研究发现,献血者血液可用于评估梅毒螺旋体分子亚型和抗生素耐药性,尤其是当Chancres不在的时候.流行亚型为14d/f(51.85%),36(78%)的高大环内酯耐药性表明在开伯尔-普赫图赫瓦省使用大环内酯治疗梅毒时谨慎,巴基斯坦。
    Syphilis, caused by Treponema pallidum, is resurging globally. Molecular typing allows for the investigation of its epidemiology. In Pakistan and other nations, T. pallidum subsp. pallidum has developed widespread macrolide resistance in the past decade. A study at the Peshawar Regional Blood Centre from June 2020-June 2021 analyzed serum samples from 32,812 blood donors in Khyber Pakhtunkhwa, Pakistan, to assess circulating T. pallidum strains and antibiotic resistance. Blood samples were initially screened for T. pallidum antibodies using a chemiluminescent microparticle immunoassay (CMIA). CMIA-reactive samples underwent polymerase chain reaction (PCR) targeted the polA, tpp47, bmp, and tp0319 genes. PCR-positive samples were further analyzed for molecular subtyping using a CDC-developed procedure and tp0548 gene examination. All PCR-positive samples were analyzed for the presence of point mutations A2058G and A2059G in 23S rRNA, as well as the G1058C mutation in 16S rRNA. These mutations are known to impart antimicrobial resistance to macrolides and doxycycline, respectively. Out of 32,812 serum samples, 272 (0.83%) were CMIA-reactive, with 46 being PCR-positive. Nine T. pallidum subtypes were identified, predominantly 14d/f. The A2058G mutation in 23S rRNA was found in 78% of cases, while G1058C in 16S rRNA and A2059G in 23S rRNA were absent. The research found donor blood useful for assessing T. pallidum molecular subtypes and antibiotic resistance, especially when chancres are not present. The prevalent subtype was 14d/f (51.85%), and the high macrolide resistance of 36 (78%) indicates caution in using macrolides for syphilis treatment in Khyber Pakhtunkhwa, Pakistan.
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  • 文章类型: Journal Article
    背景:尽管口碑(WOM)和电子WOM(eWOM)影响了人们献血的意愿,没有研究在也是献血者的血液服务雇员中探索这种行为。这个未开发的部分非常重要,因为他们通常致力于组织和事业,并且可能比普通献血者更了解献血的主题。
    方法:这项研究由六个在线焦点小组组成,其中26名澳大利亚红十字会的终身献血员工也是献血者。问题涵盖了一系列献血和WOM主题,包括当他们成为献血者时,如果他们参与了关于献血的WOM,他们谈论了什么,和谁,观众的反应是什么。然后使用主题分析来探索反应如何与员工的动机相关,机遇,以及参与关于献血的WOM和eWOM的能力。
    结果:虽然大多数员工-捐赠者看到他们的员工和捐赠者角色一致,提倡献血被认为不是这两种角色的必要组成部分。教育其他人献血是员工捐献者WOM和eWOM的共同目标,几乎所有员工都参与了反应性WOM,由事件触发(例如,最近的捐款)或关于他们工作的问题。面向捐赠者的员工捐赠者(例如,通讯和收集人员)更加意识到鼓励他人献血的重要性,并且更有可能在WOM活动中积极主动。除了具有双重角色的这些感知优势之外,员工捐赠者也发现了一些缺点,例如不切实际的专业知识期望和可能难以导航的负面受众反应。
    结论:成为员工捐赠者是一把双刃剑。例如,谈论献血和获得更多信息的机会增加,可以通过回答更具挑战性的问题/评论和期望来抵消,同时适当地代表他们的雇主。需要在医疗保健和/或非营利部门中担任雇员-捐助者角色的人员中进行更多研究,为了确定这些是否是更广泛面临的问题,以及如何最有效地支持双重角色的人参与积极的WOM和eWOM。
    BACKGROUND: Despite word-of-mouth (WOM) and electronic WOM (eWOM) influencing people\'s willingness to donate blood, no research has explored this behavior among blood service employees who are also donors. This underexplored segment is highly important, as they are generally committed to both the organization and the cause and are likely more informed on the topic of blood donation than the average donor.
    METHODS: This study comprised six online focus groups with 26 Australian Red Cross Lifeblood employees who are also donors. Questions covered a range of blood donation and WOM topics, including when they became blood donors, if they had engaged in WOM about blood donation, what they had talked about and with whom, and what were audience reactions. Thematic analysis was then used to explore how responses related to the employees\' motivations, opportunities, and abilities to engage in WOM and eWOM about blood donation.
    RESULTS: While most employee-donors saw alignment in their employee and donor roles, advocating for blood donation was not considered a necessary part of either role. Educating others about blood donation was a common goal of employee-donor WOM and eWOM, and almost all employees engaged in reactive WOM, triggered by events (e.g., recent donations) or questions about their work. Employee-donors in donor-facing roles (e.g., communications and collections staff) felt more aware of the importance of encouraging others to donate blood and were also more likely to be proactive in their WOM activity. Along with these perceived advantages of having a dual role, employee-donors also identified some disadvantages, such as unrealistic expertise expectations and negative audience responses that can be difficult to navigate.
    CONCLUSIONS: Being an employee-donor is a double-edged sword. For example, increased opportunities to talk about blood donation and access to more information can be offset by having to respond to more challenging questions/comments and expectations, while appropriately representing their employer. More research is needed among those in employee-donor roles within the healthcare and/or non-profit sectors, to determine whether these are issues faced more broadly, and how those in dual roles can be most effectively supported to engage in positive WOM and eWOM.
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  • 文章类型: Journal Article
    背景近年来,人们对输血传播的戊型肝炎的认识提高,导致一些欧洲国家对献血进行了戊型肝炎病毒(HEV)RNA的强制性检测。然而,对HEV感染的流行病学知之甚少。目的描述和分析德国献血者中HEV感染的流行病学。方法数据来自2015年1月至2022年12月在Uni捐赠的治疗性血液制品的常规检测。BlutspendedienstOWL在实验室和输血医学研究所进行了分析,北莱茵-威斯特法伦州心脏和糖尿病中心。在96个样本的小池中,对来自119,610个献血者的总共731,630个同种异体献血进行了HEVRNA测试。针对抗HEVIgM和IgG的存在分析HEVRNA阳性捐献。对HEV菌株进行基因分型,并测定各种临床肝脏特异性参数。结果共497例HEV阳性献血,导致每年的发病率为1:1,474,其中78.4%的捐赠为仅RNA阳性。在26.6%的HEVRNA阳性供体中确定了丙氨酸转氨酶活性的增加,并且与IgG抗体的检测有关(1.2%的抗HEVIgM阳性,11.9%抗HEVIgM-和IgG-阳性和8.5%抗HEVIgG-阳性)。观察到所有年份6月和7月HEVRNA阳性捐赠的平均发生率为0.084-0.083%,与女性相比,HEVRNA阳性的男性比例更高。所有分离的HEV序列对应于基因型3。结论我们的结果强调了献血中HEVRNA筛查的必要性。
    BackgroundAwareness of transfusion-transmitted hepatitis E raised in recent years led to the mandatory testing of blood donations in some European countries for hepatitis E virus (HEV) RNA. However, little is known about the epidemiology of HEV infections.AimTo and describe and analyse the epidemiology of HEV infections in blood donors in Germany.MethodsData from routine testing of therapeutic blood products donated between January 2015 and December 2022 at the Uni.Blutspendedienst OWL were analysed at the Institute of Laboratory and Transfusion Medicine, Heart and Diabetes Centre North Rhine-Westphalia. A total of 731,630 allogenic blood donations from 119,610 individual blood donors were tested for HEV RNA in minipools of 96 samples. The HEV RNA-positive donations were analysed for the presence of anti-HEV IgM and IgG. The HEV strains were genotyped and various clinical liver-specific parameters were determined.ResultsA total of 497 HEV-positive blood donations were identified, resulting in a yearly incidence of 1:1,474, from which 78.4% of the donations were RNA-only positive. Increased alanine aminotransferase activity was determined in 26.6% of HEV RNA-positive donors and was associated with the detection of IgG antibodies (1.2% anti-HEV IgM-positive, 11.9% anti-HEV IgM- and IgG-positive and 8.5% anti-HEV IgG-positive). An average incidence of 0.084-0.083% HEV RNA-positive donations in June and July in all years was observed, and a higher proportion of HEV RNA-positive men compared with women. All isolated HEV sequences corresponded to genotype 3.ConclusionOur results underline the necessity of HEV RNA screening in blood donations.
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  • 文章类型: Journal Article
    背景:TTV是一种全球流行的病毒,但对其患病率的全面了解,主要的传输路线,发病机制仍然有限。这项研究旨在评估亚兹德健康献血者中TTV感染的频率,伊朗。材料与方法:236名健康献血者,缺乏HIV/HBV/HCV感染标志物,2015年至2016年参加了这项研究。使用一组针对5-UTR区的寡聚引物的嵌套聚合酶链反应(PCR)来检测血清样品中的TTVDNA。结果:在236名健康献血者中的161名(61.2%)中鉴定出TTV基因组。男性和女性的平均年龄是43岁和57岁,分别。在参与者中,156人是男性,107人是女性。供体年龄与病毒的存在有显著的相关性(P=0.007);然而,在健康献血者中,性别与TTV感染频率无统计学意义(P=0.3).结论:这项研究显示,亚兹德省的TorqueTeno病毒发生频率非常高,与全球类似的发现保持一致。需要进一步的研究来阐明该病毒在健康人群中的临床意义。
    Background: Torque teno virus (TTV) is a globally prevalent virus in humans, yet comprehensive knowledge about its prevalence, predominant transmission routes, and pathogenesis remains limited. This study aimed to assess the frequency of TTV infection among healthy blood donors in Yazd, Iran. Materials and Methods: A total of 236 healthy blood donors, devoid of HIV/HBV/HCV infection markers, participated in the study from 2015 to 2016. Nested Polymerase Chain Reaction (PCR) utilizing a set of oligo primers for the 5΄- UTR region was employed to detect TTV DNA in serum samples. Results: The TTV genome was identified in 161 out of 236 (61.2%) healthy blood donors. The mean age for men and women was 43 and 57 years, respectively. Of the participants, 156 were male, and 107 were female. Donor age exhibited a significant association with virus presence (P=0.007); however, gender did not show a statistically significant association with the frequency of TTV infection in healthy blood donors (P=0.3). Conclusion: The study revealed a notably high frequency of the Torque teno virus in Yazd province, aligning with similar findings globally. Further investigations are warranted to elucidate the clinical implications of the virus in the healthy population.
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  • 文章类型: Journal Article
    招募低风险献血者可能具有挑战性。应努力提高对献血的认识和积极态度。实现这一目标的一个重要步骤是获得有关当前意识状况的全面数据,人们对献血的知识和态度。
    本研究是在安曼的两个献血中心进行的,乔丹,2021年。总共包括536个全血献血者。关于他们的人口特征的数据,通过问卷收集献血史以及他们对献血的知识和态度。
    四百九十人(91.4%)是男性,而只有46名参与者(8.6%)是女性。97名受试者(18.1%)是首次捐献者,而431名受试者(81.9%)曾有过捐赠.参与者在知识部分的中位数得分为19.0分(范围为5-25分)。根据28人中有15人的截止数据:84%的参与者知识渊博。同样,97%的参与者基于32分中的17分有积极的态度。多因素分析显示,高知识得分与学习专业和就业状况显著相关。而积极的态度与更高的收入显著相关。超过一半的首次献血者表示缺乏意识是以前不献血的原因。
    提高意识的措施,应实施对献血的知识和态度,以满足对血液和血液成分日益增长的需求。有针对性的运动,建议纠正一些误解,并使用不同的动机。
    UNASSIGNED: Recruitment of low risk blood donors can be challenging. Efforts should be made to increase the level of awareness and positive attitude towards blood donation. An essential step to achieve this is obtaining comprehensive data about the current situation of awareness, knowledge and attitudes of the population towards blood donation.
    UNASSIGNED: The present study was conducted at two blood donation centres in Amman, Jordan, during 2021. A total of 536 whole blood donors were included. Data regarding their demographic characteristics, blood donation history as well as their knowledge and attitudes regarding blood donation were collected by a questionnaire.
    UNASSIGNED: Four hundred ninety participants (91.4%) were males, whereas only 46 participants (8.6%) were females. Ninety seven subjects (18.1%) were first time donors, whereas 431 subjects (81.9%) had previous donations. The participants\' median score in the knowledge section was 19.0 points (range 5-25 points). Based on a cut-off of 15 out of 28: 84% of the participants were knowledgeable. Similarly 97% of the participants had a positive attitude based on a cut-off of 17 out of 32 points. Multivariate analysis revealed that high knowledge score was significantly associated with study major and employment status, whereas a positive attitude was significantly associated with a higher income. More than half of first time donors stated lack of awareness as being the reason for not donating blood before.
    UNASSIGNED: Measures to improve awareness, knowledge and attitudes towards blood donation should be implemented in order to meet the increasing demand for blood and blood components. Targeted campaigns, correction of some misconceptions and using different motivations are suggested.
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  • 文章类型: Journal Article
    背景:在非地方病国家,疟疾可以通过输入病例的献血传播。确保人体血液的质量和安全标准,欧洲联盟和西班牙国家法律,需要一个延期期,或通过免疫或基因组测试对那些具有疟疾潜在风险的捐赠者进行筛查。科学社会,欧洲输血委员会,和西班牙血液和治疗学会,仅指免疫学测试的结果。
    方法:在马德里区域输血中心进行了一项观察性回顾性研究,对潜在的疟疾免疫检测呈阳性的供体进行了观察性回顾性研究,并在2015年至2020年期间转介了马德里的国家热带病参考单位。在咨询时,进行了疟疾的聚合酶链反应(PCR)。
    结果:在研究期间,121名可能的捐助者参加了NRU-Trop的咨询。中位年龄:38.5(IQR:33-48);中位咨询时间为32个月(IQR:12.5-110)。82名(67.8%)捐助者是移民,39名是旅行者(32.2%)。ELISA值可用于109名受试者(90.1%),56个个体离开疟疾流行区>3年前。所有供体的疟原虫PCR测试均为阴性(n=121,100%)。
    结论:没有一个作为献血者的免疫试验阳性受试者的基因组试验阳性。通过分子技术未检测到采集的血液中存在疟原虫。为了避免潜在献血者的损失,尤其是那些红细胞抗原发生率低的人,随着更精确的微生物学技术的出现,有必要更新现有立法,以增加献血的供应。
    BACKGROUND: In non-endemic countries, malaria can be transmitted through blood donations from imported cases. To ensure standards of quality and safety of human blood, the European Union and Spanish national law, requires a deferral period, or a screening by immunological or genomic test among those donors with potential risk of malaria. Scientific societies, European Committee on Blood Transfusion, and Spanish Society of Haematology and Haemotherapy, refer only to the result of the immunological test.
    METHODS: An observational retrospective study was performed in potential donors with a positive immunological test for malaria done in the Regional Transfusion Center in Madrid and referred to the National Reference Unit for Tropical Diseases in Madrid between 2015-2020. At consultation a Polymerase Chain Reaction (PCR) for malaria was performed.
    RESULTS: During the study period, 121 possible donors attended for consultation at NRU-Trop. Median age: 38.5 (IQR:33-48); median time to consultation was 32 months (IQR:12.5-110). Eighty-two (67.8%) donors were migrants and thirty-nine were travellers (32.2%). ELISA values were available for 109 subjects (90.1%), 56 individual left malaria endemic area > 3 years before. All donors tested negative for Plasmodium spp PCR test (n = 121, 100%).
    CONCLUSIONS: None of the subjects with a positive immunologic test deferred as blood donors had a positive genomic test. The presence of Plasmodium spp in collected blood was not detected by molecular techniques. To avoid the loss of potential blood donors, especially those with low incidence red blood cell antigens, as more precise microbiology techniques become available, updating the existing legislation becomes necessary to increase the availability of donated blood.
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  • 文章类型: Journal Article
    背景:在加拿大最大的COVID-19血清学研究中,自2020年以来,已经监测了献血者中的SARS-CoV-2抗体。没有研究分析抗N血清阳性(最近感染的标志)与大流行期间的地理和社会人口统计学特征之间的关联变化。
    方法:在人口普查分区级别使用具有空间效应的贝叶斯多水平模型,我们分析了SARS-CoV-2抗N血清阳性在不同变异占主导地位的三个时期的相关性变化(前Delta,Delta和Omicron)。我们按地理区域分析了差异,个体特征(年龄,性别,种族)和邻里因素(城市化,物质剥夺和社会剥夺)。数据来自四个地区的420.319献血(安大略省,不列颠哥伦比亚省[BC],大草原和大西洋地区)从2020年12月到2022年11月。
    结果:种族少数群体血清阳性率更高,在三角洲之前和三角洲浪潮中,在物质匮乏的社区中的男性和个人。随着大量人群被感染,这些亚组差异在Omicron波中消散。在所有的波浪中,较年轻的个体和社区社会贫困程度较低的个体的血清阳性率较高。草原上的农村居民有很高的血清阳性,但不是其他地区。与广义线性模型相比,具有空间效应的多层次模型在按地理区域预测SARS-CoV-2抗N血清阳性时具有更好的拟合性和更低的误差。
    结论:近期COVID-19感染的相关因素在大流行期间有所演变。在Omicron波期间,许多差异减少了,但是,公共卫生干预可能有必要解决年轻人和社会贫困程度较低的人群中持续较高的负担。
    BACKGROUND: In Canada\'s largest COVID-19 serological study, SARS-CoV-2 antibodies in blood donors have been monitored since 2020. No study has analysed changes in the association between anti-N seropositivity (a marker of recent infection) and geographic and sociodemographic characteristics over the pandemic.
    METHODS: Using Bayesian multi-level models with spatial effects at the census division level, we analysed changes in correlates of SARS-CoV-2 anti-N seropositivity across three periods in which different variants predominated (pre-Delta, Delta and Omicron). We analysed disparities by geographic area, individual traits (age, sex, race) and neighbourhood factors (urbanicity, material deprivation and social deprivation). Data were from 420 319 blood donations across four regions (Ontario, British Columbia [BC], the Prairies and the Atlantic region) from December 2020 to November 2022.
    RESULTS: Seropositivity was higher for racialized minorities, males and individuals in more materially deprived neighbourhoods in the pre-Delta and Delta waves. These subgroup differences dissipated in the Omicron wave as large swaths of the population became infected. Across all waves, seropositivity was higher in younger individuals and those with lower neighbourhood social deprivation. Rural residents had high seropositivity in the Prairies, but not other regions. Compared to generalized linear models, multi-level models with spatial effects had better fit and lower error when predicting SARS-CoV-2 anti-N seropositivity by geographic region.
    CONCLUSIONS: Correlates of recent COVID-19 infection have evolved over the pandemic. Many disparities lessened during the Omicron wave, but public health intervention may be warranted to address persistently higher burden among young people and those with less social deprivation.
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  • 文章类型: Journal Article
    背景:韩国面临着快速下降的生育率和日益老龄化的人口的严峻挑战,这极大地影响了该国的血液供应和需求。尽管有这些全国性的趋势,血液供需的地区差异尚未得到彻底研究。
    方法:这项研究利用了韩国红十字会的献血数据和健康保险审查和评估服务的输血数据。我们结合区域人口预测分析了这些数据集,以模拟韩国从2021年到2050年的血液供应和需求。进行了敏感性分析,以评估各种因素的影响,包括捐赠者的数量,捐赠的年龄资格标准,捐款的频率,和血液丢弃率。
    结果:我们的预测表明血液供应呈下降趋势,从2021年的260万台到2050年的140万台,而需求预计到2045年将达到510万台的峰值,然后下降。都市区,尤其是京处理过程,预计将经历最严重的短缺。敏感性分析表明,增加现有捐赠者的捐赠频率和放宽年龄资格标准是解决这些不平衡的更有效策略,而不仅仅是增加新捐赠者的数量。血液丢弃率对总体血液短缺的影响最小。
    结论:研究结果强调迫切需要有针对性的策略来缓解韩国的国家和地区血液供应短缺。鼓励有经验的捐献者的频繁捐赠和扩大资格标准是在人口变化中稳定血液供应的关键步骤。必须优先考虑这些战略,以解决血液供应方面迫在眉睫的区域差异。
    BACKGROUND: South Korea faces a critical challenge with its rapidly declining fertility rates and an increasingly aging population, which significantly impacts the country\'s blood supply and demand. Despite these nationwide trends, regional disparities in blood supply and demand have not been thoroughly studied.
    METHODS: This research utilized blood donation data from the Korean Red Cross and blood transfusion data from the Health Insurance Review and Assessment Service. We analyzed these datasets in conjunction with regional population projections to simulate blood supply and demand from 2021 to 2050 across South Korea. Sensitivity analyses were conducted to assess the impact of various factors, including the number of donors, age eligibility criteria for donations, frequency of donations, and blood discard rates.
    RESULTS: Our projections indicate a decreasing trend in blood supply, from 2.6 million units in 2021 to 1.4 million units by 2050, while demand is expected to peak at 5.1 million units by 2045 before declining. Metropolitan areas, particularly Gyeonggi Province, are projected to experience the most severe shortages. Sensitivity analyses suggest that increasing the donation frequency of existing donors and relaxing age eligibility criteria are more effective strategies in addressing these imbalances than merely increasing the number of new donors. Blood discard rates showed minimal impact on the overall blood shortage.
    CONCLUSIONS: The findings emphasize the urgent need for targeted strategies to mitigate national and regional blood supply shortages in South Korea. Encouraging frequent donations from experienced donors and broadening eligibility criteria are critical steps toward stabilizing the blood supply amidst demographic shifts. These strategies must be prioritized to address the impending regional disparities in blood availability.
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  • 文章类型: Journal Article
    头痛障碍是神经系统最常见的疾病。头痛疾病的终生患病率表明,有些人从未经历过头痛。完全免于头痛的病因尚不清楚。为了评估与完全免于头痛相关的遗传变异,我们对从未经历过头痛的个体进行了全基因组关联研究.我们包括来自丹麦献血者研究基因组队列的63,992名个体(2,998名完全没有头痛的个体和60,994名对照)。参与者被包括在两轮中,从2015年到2018年和2020年。我们发现了全基因组的显著关联,ADARB2中的前导变体rs7904615[G](EAF=27%,OR=1.20[1.13-1.27],p=3.92×10-9)。基因组基因座在来自丹麦献血者研究基因组队列的13,032个个体(539个完全没有头痛的个体和12,493个对照)的非重叠队列中复制(p<0.05,双侧)。复制的参与者包括在2015年至2020年之间。总之,我们表明完全免于头痛有遗传因素,我们建议ADARB2参与完全免于头痛。基因组基因座对完全免于头痛具有特异性,并且与任何原发性头痛疾病无关。
    Headache disorders are the most common disorders of the nervous system. The lifetime prevalence of headache disorders show that some individuals never experience headache. The etiology of complete freedom from headache is not known. To assess genetic variants associated with complete freedom from headache, we performed a genome-wide association study of individuals who have never experienced a headache. We included 63,992 individuals (2,998 individuals with complete freedom from headache and 60,994 controls) from the Danish Blood Donor Study Genomic Cohort. Participants were included in two rounds, from 2015 to 2018 and in 2020. We discovered a genome-wide significant association, with the lead variant rs7904615[G] in ADARB2 (EAF = 27%, OR = 1.20 [1.13-1.27], p = 3.92 × 10-9). The genomic locus was replicated in a non-overlapping cohort of 13,032 individuals (539 individuals with complete freedom from headache and 12,493 controls) from the Danish Blood Donor Study Genomic Cohort (p < 0.05, two-sided). Participants for the replication were included from 2015 to 2020. In conclusion, we show that complete freedom from headache has a genetic component, and we suggest that ADARB2 is involved in complete freedom from headache. The genomic locus was specific for complete freedom from headache and was not associated with any primary headache disorders.
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