Biobanking

Biobanking
  • 文章类型: Journal Article
    使用细胞外囊泡(EV)的临床研究的标准化主要集中在分离和表征所采用的程序;然而,样品收集的分析前方面,处理和储存也显著影响结果的可重复性。我们在GEIVEX(GrupoEspañoldeInvestigaciónVesiculasExtracelulares)成员中进行了基于SPREC(标准预分析代码)的在线调查,以探讨不同实验室如何处理用于EV分析的流体生物标本。我们收到了来自43个不同实验室的70项调查:44%的调查集中在血浆上,9%的血清和16%的尿液。调查表明,分析前方法的变异性达到94%。此外,在某些情况下,研究人员无法获得样品的所有相关分析前细节,某些样本方面对EV隔离/表征有潜在影响,但未在当前版本的SPREC中编码。我们的研究强调了使用通用标准操作程序(SOP)控制分析前条件的重要性。SPREC的应用代表了一种编码和配准分析前条件的合适方法。将SPREC集成到实验室/生物库的SOP中,将提供有价值的信息来源,并通过提高可重复性和可信性,为EV研究提供了进步。
    The standardization of clinical studies using extracellular vesicles (EVs) has mainly focused on the procedures employed for their isolation and characterization; however, preanalytical aspects of sample collection, handling and storage also significantly impact the reproducibility of results. We conducted an online survey based on SPREC (Standard PREanalytical Code) among members of GEIVEX (Grupo Español de Investigación en Vesiculas Extracelulares) to explore how different laboratories handled fluid biospecimens destined for EV analyses. We received 70 surveys from forty-three different laboratories: 44% focused on plasma, 9% on serum and 16% on urine. The survey indicated that variability in preanalytical approaches reaches 94%. Moreover, in some cases, researchers had no access to all relevant preanalytical details of samples, with some sample aspects with potential impact on EV isolation/characterisation not coded within the current version of SPREC. Our study highlights the importance of working with common standard operating procedures (SOP) to control preanalytical conditions. The application of SPREC represents a suitable approach to codify and register preanalytical conditions. Integrating SPREC into the SOPs of laboratories/biobanks will provide a valuable source of information and constitute an advance for EV research by improving reproducibility and credibility.
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  • 文章类型: Journal Article
    从血液中纯化的小细胞外囊泡(sEV)在临床上具有作为全身性疾病生物标志物的巨大潜力;然而,取血后离体释放sEV的解释变得复杂。为了量化问题并设计将其最小化的方法,我们对配对血清中的sEV进行了表征,来自健康供体的血浆和低血小板血浆(PPP)样品。免疫印迹显示来自新鲜血清的sEV级分中CD9的丰度比来自新鲜血浆或PPP的高两倍。MACSPlex证实了这一点,并显示血小板sEV上表达的蛋白质,要么独家(CD41b,CD42a和CD62P)或更广泛的(HLA-ABC,CD24,CD29和CD31)也是两倍丰富;相比之下,非血小板蛋白(包括CD81)没有差异。血浆(而不是血清)的储存增加了血小板和选定的白细胞sEV蛋白的丰度,至少是血清的丰度,这可以通过Ca2+激活新鲜血浆中的细胞来概括,影响在购买力平价中被废除。这表明血清和储存的血浆中相当大比例的sEV是离体产生的,新鲜血浆或PPP并非如此。因此,我们提供了最小化离体sEV产生的策略和用于鉴定存在于体内的那些的标准。
    Small extracellular vesicles (sEV) purified from blood have great potential clinically as biomarkers for systemic disease; however interpretation is complicated by release of sEV ex vivo after blood taking. To quantify the problem and devise ways to minimise it, we characterised sEV in paired serum, plasma and platelet poor plasma (PPP) samples from healthy donors. Immunoblotting showed twofold greater abundance of CD9 in sEV fractions from fresh serum than from fresh plasma or PPP. MACSPlex confirmed this, and showed that proteins expressed on platelet sEV, either exclusively (CD41b, CD42a and CD62P) or more widely (HLA-ABC, CD24, CD29 and CD31) were also twofold more abundant; by contrast non-platelet proteins (including CD81) were no different. Storage of plasma (but not serum) increased abundance of platelet and selected leukocyte sEV proteins to at least that of serum, and this could be recapitulated by activating cells in fresh plasma by Ca2+, an effect abrogated in PPP. This suggests that a substantial proportion of sEV in serum and stored plasma were generated ex vivo, which is not the case for fresh plasma or PPP. Thus we provide strategies to minimise ex vivo sEV generation and criteria for identifying those that were present in vivo.
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  • 文章类型: Journal Article
    Collective use center is an organization or structural unit with unique resource providing access to this resource for internal and third-party users. Collective use centers are a relatively new phenomenon in bioresource collections, especially collections of human biological material due to some ethical and legal issues. At the same time, the demand for human biological material continues to grow in fundamental and applied researches. The collective use center «Bioresource collection of tissues and cell cultures of tumors of the human nervous system for fundamental and applied researches» has worked since October 14, 2022. This center has access to unique collection of the Laboratory of Neurosurgical Anatomy and Conservation of Human Biological Tissues of the Burdenko Neurosurgical Center.
    OBJECTIVE: To analyze the experience of collective use center and biobank of the Burdenko Neurosurgical Center compared to national and international data on functioning of collective use centers specializing in tumors of the human central nervous system.
    METHODS: We reviewed the PubMed and e-Library databases using the following keywords: core facilities brain tumors, repository of collective use brain tumors, biobank of CNS tumors, central nervous system tumor collection centers. We also analyzed the organizations registered on the portal of scientific and technical infrastructure of the Russian Federation.
    RESULTS: We analyzed 275 publications devoted to collective use centers and biobanks. These biobanks do not position themselves as collective use centers but actively realize biological material for researches. Structure of institutions presented on the portal of scientific and technical infrastructure of the Russian Federation is characterized. The collective use center «Bioresource collection of tissues and cell cultures of tumors of the human nervous system for fundamental and applied researches» has access to biobank of the Burdenko Neurosurgical Center. To date, the biobank contains more than 8478 aliquots of tumor tissue frozen at ultra-low temperature (-196°C) and obtained from 1993 patients. Considering available data, we established the basic principles of work in collective use centers with bioresource collections.
    CONCLUSIONS: Collective use centers with bioresource collections of tumors of the central nervous system are rare. There is only one collective use center organized at the Burdenko Neurosurgical Center on the portal of scientific and technical infrastructure of the Russian Federation. At the same time, there is an urgent need to increase their number and activity in Russia and other countries worldwide. You can use the resource of brain tumor collections by leaving a request on the official website of this organization in the «Collective use center» section.
    Центр коллективного пользования (ЦКП) — это организация или структурное подразделение располагающие уникальным ресурсом и обеспечивающие доступ к этому ресурсу для внутренних и сторонних пользователей. ЦКП представляет собой относительно новое явление в сфере реализации биоресурсных коллекций, особенно коллекций биологического материала, полученного от человека, ввиду ряда этических и правовых вопросов. При этом спрос на биологический материал человека продолжает расти как при фундаментальных, так и при прикладных исследованиях. ЦКП «Биоресурсная коллекция тканей и клеточных культур опухолей нервной системы человека для фундаментальных и прикладных исследований» функционирует с 14.10.22 и имеет доступ к уникальной коллекции лаборатории нейрохирургической анатомии и консервации биологических тканей человека ФГАУ «Национальный медицинский исследовательский центр нейрохирургии им. акад. Н.Н. Бурденко» Минздрава России (НМИЦН).
    UNASSIGNED: Проанализировать опыт работы ЦКП и биобанка НМИЦН, сопоставить его с отечественными и мировыми данными в области функционирования ЦКП, специализирующихся на работе с образцами опухолей центральной нервной системы человека.
    UNASSIGNED: В рамках исследования произведен поиск публикаций, представленных в базах данных PubMed и eLibrary, по ключевым словам: «core facilities brain tumors», «repository of collective use brain tumors», «biobank of CNS tumors», «центры коллективного пользования опухолей центральной нервной системы». Изучены также организации, зарегистрированные на портале научно-технической инфраструктуры Российской Федерации.
    UNASSIGNED: Всего проанализировано 275 публикаций, посвященных ЦКП и биобанкам, которые, не позиционируя себя как ЦКП, при этом активно реализуют хранящийся у них биологический материал для научных исследований. Охарактеризована структура учреждений, представленных на портале научно-технической инфраструктуры Российской Федерации. ЦКП «Биоресурсная коллекция тканей и клеточных культур опухолей нервной системы человека для фундаментальных и прикладных исследований» имеет доступ к коллекции биобанка НМИЦН. На сегодняшний день в биобанке насчитывается более 8478 аликвот опухолевой ткани, замороженных при сверхнизкой температуре (–196 °C), полученных от 1993 пациентов. На основании полученных данных сформулированы основные принципы деятельности ЦКП биоресурсными коллекциями.
    UNASSIGNED: ЦКП биоресурсными коллекциями опухолей центральной нервной системы — редкое явление. На портале научно-технической инфраструктуры РФ зарегистрирован только ЦКП, организованный на базе НМИЦН. При этом имеется острая потребность в увеличении их количества и активности в России и других странах мира. Воспользоваться ресурсом коллекции опухолей головного мозга НМИЦН можно, оставив заявку на официальном сайте организации в разделе ЦКП.
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  • 文章类型: Journal Article
    背景:胰腺癌仍然是美国最致命的癌症之一。某些类型的胰腺囊肿,它们在成像时被更频繁地检测到,有可能发展为胰腺癌,从而为癌症拦截提供了宝贵的机会。尽管已经描述了胰腺癌的种族差异,人们对胰腺癌预防中的健康差异知之甚少。在本研究中,我们调查了胰腺癌治疗连续过程中潜在的健康差异.
    方法:评估了印第安纳州高容量中心胰腺患者的种族和民族构成,代表接受胰腺癌手术的患者(n=390),参与生物基线(972例胰腺癌患者和1984例胰腺疾病患者),或在早期检测中心监测胰腺囊肿(n=1514)。评估与胰腺癌预防和早期发现相关的种族差异和决策的潜在差异。我们通过志愿者注册中心进行了一项探索性在线调查(n=708).结果:我们表明,尽管占印第安纳州或印第安纳波利斯人口的近10%或30%,分别,非洲裔美国人仅占我们研究队列的4-5%,这些研究队列包括接受胰腺手术或参与生物分析和早期检测的患者。对在线调查结果的分析显示,鉴于被诊断为胰腺囊肿或胰腺癌的假设情况,绝大多数受访者(>90%)会同意接受监视或手术,分别,不管种族。只有少数人(3-12%)承认任何重要的运输,金融,或情感障碍会影响进行监视或手术的决定。这表明观察到的种族差异可能部分是由于该决策点上游存在其他障碍。
    结论:种族差异不仅存在于胰腺癌中,而且存在于持续治疗的早期阶段,如预防和早期发现。据我们所知,这是第一项记录有胰腺癌风险的胰腺囊肿患者治疗中种族差异的研究.我们的结果表明,改善对此类高危人群的信息获取和护理可能会带来更公平的结果。
    BACKGROUND: Pancreatic cancer remains one of the deadliest cancers in the United States. Some types of pancreatic cysts, which are being detected more frequently and often incidentally on imaging, have the potential to develop into pancreatic cancer and thus provide a valuable window of opportunity for cancer interception. Although racial disparity in pancreatic cancer has been described, little is known regarding health disparities in pancreatic cancer prevention. In the present study, we investigate potential health disparities along the continuum of care for pancreatic cancer.
    METHODS: The racial and ethnic composition of pancreatic patients at high-volume centers in Indiana were evaluated, representing patients undergoing surgery for pancreatic cancer (n=390), participating in biobanking (972 pancreatic cancer patients and 1984 patients with pancreatic disease), or being monitored for pancreatic cysts at an early detection center (n=1514). To assess racial disparities and potential differences in decision-making related to pancreatic cancer prevention and early detection, an exploratory online survey was administered through a volunteer registry (n=708).  Results: We show that despite comprising close to 10% or 30% of the Indiana or Indianapolis population, respectively, African Americans make up only about 4-5% of our study cohorts consisting of patients undergoing pancreatic surgery or participating in biobanking and early detection. Analysis of online survey results revealed that given the hypothetical situation of being diagnosed with a pancreatic cyst or pancreatic cancer, the vast majority of respondents (>90%) would agree to undergo surveillance or surgery, respectively, regardless of race. Only a minority (3-12%) acknowledged any significant transportation, financial, or emotional barriers that would impact a decision to undergo surveillance or surgery. This suggests that the observed racial disparities may be due in part to the existence of other barriers that lie upstream of this decision point.
    CONCLUSIONS: Racial disparities exist not only for pancreatic cancer but also at earlier points along the continuum of care such as prevention and early detection. To our knowledge, this is the first study to document racial disparity in the management of patients with pancreatic cysts who are at risk of developing pancreatic cancer. Our results suggest that improving access to information and care for such at-risk individuals may lead to more equitable outcomes.
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  • 文章类型: Journal Article
    目的:我们的肠道微生物组具有其自身的功能,可以通过各种异种生物和生物成分进行调节。单个肠道微生物组的高通量功能筛选方法的开发和应用加速了药物发现和我们对微生物组-药物相互作用的理解。我们以前开发了个体微生物组的快速测定(RapidAIM),将优化的培养模型与元蛋白质组学相结合,以研究肠道微生物组对异源生物的反应。在这项研究中,我们的目标是将自动化和多路复用技术纳入RapidAIM,以开发高通量协议.方法:开发RapidAIM2.0版本,我们自动化了蛋白质分析方案,并介绍了串联质量标签(TMT)复用技术。为了证明协议的典型结果,我们使用RapidAIM2.0评估了益生元红藻糖对体外个体肠道微生物组的影响,并采用了5种不同的工作流程.结果:我们描述了RapidAIM2.0的方案,详细介绍了粪便样本收集,生物缓冲,体外培养和刺激,样品处理,元蛋白质组学测量,和数据分析。每个多重样品达到5,014±142个蛋白质组的分析深度。使用RapidAIM2.0对五种生物标记方法进行的测试显示,样品处理对活的微生物群对红藻糖的功能反应的影响最小。结论:RapidAIM2.0的深度和可重复性与以前的手动无标记元蛋白质组学分析相当。同时,该方案在六天内实现了320个样品的培养和样品制备,打开大门,广泛了解外源性生物和生物因素对我们内部生态的影响。
    Aim: Our gut microbiome has its own functionalities which can be modulated by various xenobiotic and biotic components. The development and application of a high-throughput functional screening approach of individual gut microbiomes accelerates drug discovery and our understanding of microbiome-drug interactions. We previously developed the rapid assay of individual microbiome (RapidAIM), which combined an optimized culturing model with metaproteomics to study gut microbiome responses to xenobiotics. In this study, we aim to incorporate automation and multiplexing techniques into RapidAIM to develop a high-throughput protocol. Methods: To develop a 2.0 version of RapidAIM, we automated the protein analysis protocol, and introduced a tandem mass tag (TMT) multiplexing technique. To demonstrate the typical outcome of the protocol, we used RapidAIM 2.0 to evaluate the effect of prebiotic kestose on ex vivo individual human gut microbiomes biobanked with five different workflows. Results: We describe the protocol of RapidAIM 2.0 with extensive details on stool sample collection, biobanking, in vitro culturing and stimulation, sample processing, metaproteomics measurement, and data analysis. The analysis depth of 5,014 ± 142 protein groups per multiplexed sample was achieved. A test on five biobanking methods using RapidAIM 2.0 showed the minimal effect of sample processing on live microbiota functional responses to kestose. Conclusions: Depth and reproducibility of RapidAIM 2.0 are comparable to previous manual label-free metaproteomic analyses. In the meantime, the protocol realizes culturing and sample preparation of 320 samples in six days, opening the door to extensively understanding the effects of xenobiotic and biotic factors on our internal ecology.
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  • 文章类型: Journal Article
    与生物库和人类生物材料研究相关的科学潜力的发展在很大程度上取决于潜在捐助者与收集材料的实体合作的意愿。出于这个原因,确定可能鼓励潜在参与者捐赠其生物材料的情况和因素至关重要。特别是,管理生物库的人员可以修改的动机因素的知识可能证明对于塑造生物库和其他科学机构的组织和沟通政策非常重要。
    这项研究是在2021年对代表波兰成年人口的18岁以上1,100人进行的。
    超过一半的受访者表示愿意为研究目的向生物样本库捐赠血液样本(57.8%)。支持生物材料捐赠的因素中最常见的激励措施是:获得预测疾病风险的基因测试结果(77.1%),验血(71.3%),获得少量报酬(64.6%)和进行遗传血统测试(60.4%)的可能性。
    提供执行额外诊断测试的可能性,尤其是基因测试,可能会大大增加潜在捐助者与生物库和其他实体合作以收集人类生物材料进行科学研究的意愿。然而,还应注意与尊重研究参与者的隐私和自主权相关的挑战和风险。
    UNASSIGNED: The development of the scientific potential linked with biobanking and research on human biological material is highly dependent on the willingness of potential donors to cooperate with entities that collect the material. For this reason, it is crucial to identify the circumstances and factors that may encourage potential participants to donate their biological material. In particular, knowledge of the motivational factors that can be modified by the persons managing a biobank may prove notably important for shaping the organizational and communication policy of the biobank and other scientific institutions.
    UNASSIGNED: The research was carried out on a group of 1,100 people over 18 years of age representing the adult population of Poland in 2021.
    UNASSIGNED: More than half of the respondents declared their willingness to donate a blood sample for research purposes to a biobank (57.8%). The most often indicated incentives among the factors supporting the donation of biological material were offers of: obtaining the results of genetic tests predicting the risk of diseases (77.1%), blood tests (71.3%), the possibility of obtaining a small remuneration (64.6%) and the carrying out of genetic ancestry tests (60.4%).
    UNASSIGNED: Offering the possibility of performing additional diagnostic tests, especially genetic tests, may significantly increase the willingness of potential donors to cooperate with biobanks and other entities collecting human biological material for the purpose of scientific research. However, attention should also be paid to the challenges and risks linked with respecting the privacy and autonomy of research participants.
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  • 文章类型: Journal Article
    这项研究旨在评估波兰药学专业学生对生物库的认识,以及它如何影响他们对生物库研究的支持。
    对波兰两所医科大学的366名药学学生进行了调查:波兹南医学大学和卢布林医科大学。
    尽管大多数药学专业的学生对生物样本研究持积极态度,并表示愿意捐赠生物样本用于生物医学研究,他们对研究生物库的认识很低。他们的参与意愿是由造福社会的愿望驱动的,帮助推进科学发展和开发新的疗法。虽然学生支持捐赠大多数类型的研究,由医科大学经营的生物银行是最值得信赖的研究机构。与学生参与意愿相关的主要因素是宗教信仰和学习地点。值得注意的是,非宗教学生和在波兹南学习的学生对捐赠研究表现出更有利的态度,并对在波兰建立研究生物库表示更大的支持。
    由于未来药剂师对生物库的认识不足,因此需要将生物库能力领域纳入药剂师的教育和培训。
    UNASSIGNED: This study aimed to assess the biobank awareness among Polish pharmacy students and how it affects their support for biobank research.
    UNASSIGNED: A survey among 366 pharmacy students enrolled at two Polish medical universities: the Poznań University of Medical Sciences and Medical University of Lublin was conducted.
    UNASSIGNED: Although most pharmacy students felt positivity about biobanking and expressed the willingness to donate their biospecimens for biomedical research, their awareness on research biobanks was low. Their willingness to participate was driven by the desire to benefit society, help advance science and develop new therapies. While students supported donation for most types of research, biobanks run by medical universities were the highest trusted research institutions. The primary factors associated with student\'s willingness to participate were religiosity and place of study. Notably, nonreligious students and those studying in Poznan exhibited more favourable attitudes toward donating for research and expressed greater support for the establishment of research biobanks in Poland.
    UNASSIGNED: Since biobank awareness among future pharmacists is inadequate incorporating biobank competency domains into education and training of pharmacists is required.
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  • 文章类型: Journal Article
    代际正义赋予地球生物多样性的最大保留权。2022年联合国COP15,“生态文明:为地球上的所有生命建立共同的未来”致力于保护地球30%的陆地环境,通过缔约方会议第二十八届会议,减轻气候灾难对生物圈的影响。我们将这篇综述集中在三个核心主题上:繁殖生物技术的需求和潜力,生物银行,和保护育种计划(RBC)以满足可持续发展目标;RBC的技术状态和当前应用;以及如何在快速发展的环境和文化景观中实现RBC的未来潜力。红细胞包括生殖的激素刺激,精子和卵母细胞的收集和储存,和人工受精。新兴技术保证了物种的永久存在,这些物种仅来自永久储存的生物材料。尽管两栖动物在全球范围内大幅下降和灭绝,以及对大多数生物多样性的灾难性未来的预测,对两栖动物红细胞的实际支持仍然仅限于富裕西方国家的一些有限项目。我们讨论了两栖动物红细胞在多极地缘政治中保持两栖动物多样性和防止灭绝的潜力,文化,和经济框架。我们认为一个民主国家,需要全球包容性组织将RBC集中在两栖动物多样性最高的地区。优先考虑应包括区域和国际合作,社区参与,并支持从动物园和其他机构到私人看护者的RBC设施。我们列出了与RBC相关的现场程序的标准术语,以实现出版和媒体一致性。
    Intergenerational justice entitles the maximum retention of Earth\'s biodiversity. The 2022 United Nations COP 15, \"Ecological Civilisation: Building a Shared Future for All Life on Earth\", is committed to protecting 30% of Earth\'s terrestrial environments and, through COP 28, to mitigate the effects of the climate catastrophe on the biosphere. We focused this review on three core themes: the need and potential of reproduction biotechnologies, biobanks, and conservation breeding programs (RBCs) to satisfy sustainability goals; the technical state and current application of RBCs; and how to achieve the future potentials of RBCs in a rapidly evolving environmental and cultural landscape. RBCs include the hormonal stimulation of reproduction, the collection and storage of sperm and oocytes, and artificial fertilisation. Emerging technologies promise the perpetuation of species solely from biobanked biomaterials stored for perpetuity. Despite significant global declines and extinctions of amphibians, and predictions of a disastrous future for most biodiversity, practical support for amphibian RBCs remains limited mainly to a few limited projects in wealthy Western countries. We discuss the potential of amphibian RBCs to perpetuate amphibian diversity and prevent extinctions within multipolar geopolitical, cultural, and economic frameworks. We argue that a democratic, globally inclusive organisation is needed to focus RBCs on regions with the highest amphibian diversity. Prioritisation should include regional and international collaborations, community engagement, and support for RBC facilities ranging from zoos and other institutions to those of private carers. We tabulate a standard terminology for field programs associated with RBCs for publication and media consistency.
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  • 文章类型: Journal Article
    西班牙家族性胰腺癌注册中心(PANGENFAM)成立于2009年,旨在表征家族性胰腺癌(FPC)的基因型和表型。此外,我们为来自FPC和遗传性胰腺癌家族(一级亲属)的健康高危人群提供了胰腺导管腺癌(PDAC)的早期检测筛查计划.本文介绍了我们过去10年在高风险筛查方面的经验。通过肿瘤学和胃肠病学部门确定了遗传性和家族性胰腺癌家族。高危人群每年接受内窥镜超声(EUS)和磁共振(MRI)筛查,年龄比最年轻的患病家庭成员小40岁或10岁。结果:PANGENFAM招募了来自143个家庭的290人,包括52例PDAC病例和238例高危人群。所有符合筛查条件的高危人群都可以进入监测项目,目前有143人参加。在94名个体中检测到胰腺异常(中位年龄53岁(29-83),常见发现包括囊性病变和薄壁组织不均匀。影像学检查符合率为66%。在影像学检测到高度可疑的病变后,对4名高风险个体进行了手术干预。PANGENFAM是科学创新的宝贵资源,比如生物缓冲,临床和影像学数据可供分析。对于高危家庭,它可能提供早期诊断的潜力。需要与其他国家和国际注册管理机构合作,以增加我们对疾病生物学的了解,并标准化纳入和后续行动的标准,优化成本效益和功效。
    The Spanish Familial Pancreatic Cancer Registry (PANGENFAM) was established in 2009 and aims to characterize the genotype and phenotype of familial pancreatic cancer (FPC). Furthermore, an early detection screening program for pancreatic ductal adenocarcinoma (PDAC) is provided to healthy high-risk individuals from FPC and hereditary pancreatic cancer families (first-degree relatives). This article describes our experience over the last 10 years in high-risk screening. Hereditary and familial pancreatic cancer families were identified through the oncology and gastroenterology units. High-risk individuals underwent annual screening with endoscopic ultrasound (EUS) and magnetic resonance (MRI) from age 40 or 10 years younger than the youngest affected family member. Results: PANGENFAM has enrolled 290 individuals from 143 families, including 52 PDAC cases and 238 high-risk individuals. All high-risk individuals eligible for screening were offered to enter the surveillance program, with 143 currently participating. Pancreatic abnormalities were detected in 94 individuals (median age 53 years (29-83), with common findings including cystic lesions and inhomogeneous parenchyma. Imaging test concordance was 66%. Surgical intervention was performed in 4 high-risk individuals following highly suspicious lesions detected by imaging. PANGENFAM is a valuable resource for science innovation, such as biobanking, with clinical and imaging data available for analysis. For high-risk families, it may offer a potential for early diagnosis. Collaboration with other national and international registries is needed to increase our understanding of the disease biology and to standardize criteria for inclusion and follow-up, optimizing cost-effectiveness and efficacy.
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  • 文章类型: Journal Article
    阿尔茨海默病(AD),最常见的痴呆症,尽管进行了数十年的研究和临床研究,但理解和治疗仍然具有挑战性。这可能部分是由于缺乏广泛可用且具有成本效益的诊断和预后方式。最近,基于血液的AD生物标志物领域在技术进步的推动下取得了重大进展,主要提高了分析和测量平台的分析灵敏度和精度。几种基于血液的生物标志物已显示出准确检测AD病理生理学的高潜力。因此,已经有相当大的兴趣应用这些生物标志物用于诊断和预后,作为替代指标,以研究各种协变量对AD病理生理学的影响,并加速AD治疗试验和监测治疗效果。然而,如何收集和收集血液样本缺乏标准化,已处理,存储的分析和报告可能会影响这些生物标志物测量的可重复性,可能会阻碍它们在临床和研究环境中的广泛使用。为了帮助解决这些问题,我们根据最近的研究结果,就样本处理对血液生物标志物测量的影响提供了基本指南.这些指南涵盖了重要的考虑因素,包括研究设计,采血,血液处理,生物缓冲,生物标志物测量,和结果报告。此外,拟议的指南包括用于遗传和核糖核酸分析的适当血液处理程序的最佳实践。虽然我们专注于AT(N)标准的关键基于血液的AD生物标志物(例如,淀粉样β[Aβ]40,Aβ42,Aβ42/40比例,total-tau,磷酸化-tau,神经丝轻链,脑源性tau和神经胶质原纤维酸性蛋白),我们预计这些指南将普遍适用于其他类型的血液生物标志物.我们还预计,这些指南将有助于研究人员规划和执行生物标志物研究,实现样品处理的统一,以提高研究之间的可比性。
    Alzheimer\'s disease (AD), the most common form of dementia, remains challenging to understand and treat despite decades of research and clinical investigation. This might be partly due to a lack of widely available and cost-effective modalities for diagnosis and prognosis. Recently, the blood-based AD biomarker field has seen significant progress driven by technological advances, mainly improved analytical sensitivity and precision of the assays and measurement platforms. Several blood-based biomarkers have shown high potential for accurately detecting AD pathophysiology. As a result, there has been considerable interest in applying these biomarkers for diagnosis and prognosis, as surrogate metrics to investigate the impact of various covariates on AD pathophysiology and to accelerate AD therapeutic trials and monitor treatment effects. However, the lack of standardization of how blood samples and collected, processed, stored analyzed and reported can affect the reproducibility of these biomarker measurements, potentially hindering progress toward their widespread use in clinical and research settings. To help address these issues, we provide fundamental guidelines developed according to recent research findings on the impact of sample handling on blood biomarker measurements. These guidelines cover important considerations including study design, blood collection, blood processing, biobanking, biomarker measurement, and result reporting. Furthermore, the proposed guidelines include best practices for appropriate blood handling procedures for genetic and ribonucleic acid analyses. While we focus on the key blood-based AD biomarkers for the AT(N) criteria (e.g., amyloid-beta [Aβ]40, Aβ42, Aβ42/40 ratio, total-tau, phosphorylated-tau, neurofilament light chain, brain-derived tau and glial fibrillary acidic protein), we anticipate that these guidelines will generally be applicable to other types of blood biomarkers. We also anticipate that these guidelines will assist investigators in planning and executing biomarker research, enabling harmonization of sample handling to improve comparability across studies.
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