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Proceedings of the 5th Ibero-American Symposium on Sport and Physical Activity: Nutrition & Training (SIDANE) and 1st International Conference on Nutrition Applied to Physical Activity and Sport. 第五届伊比利亚-美洲体育运动研讨会(SIDANE)暨第一届体育运动营养应用国际会议论文集:第五届伊比利亚-美洲体育运动营养与培训研讨会(SIDANE)暨第一届体育运动营养应用国际会议论文集。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-02-06 DOI: 10.1186/s12919-024-00288-z
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引用次数: 0
Rethinking the pros and cons of randomized controlled trials and observational studies in the era of big data and advanced methods: a panel discussion. 在大数据和先进方法时代反思随机对照试验和观察研究的利弊:小组讨论。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-18 DOI: 10.1186/s12919-023-00285-8
Pamela Fernainy, Alan A Cohen, Eleanor Murray, Elena Losina, Francois Lamontagne, Nadia Sourial

Randomized controlled trials (RCTs) have traditionally been considered the gold standard for medical evidence. However, in light of emerging methodologies in data science, many experts question the role of RCTs. Within this context, experts in the USA and Canada came together to debate whether the primacy of RCTs as the gold standard for medical evidence, still holds in light of recent methodological advances in data science and in the era of big data. The purpose of this manuscript, aims to raise awareness of the pros and cons of RCTs and observational studies in order to help guide clinicians, researchers, students, and decision-makers in making informed decisions on the quality of medical evidence to support their work. In particular, new and underappreciated advantages and disadvantages of both designs are contrasted. Innovations taking place in both of these research methodologies, which can blur the lines between the two, are also discussed. Finally, practical guidance for clinicians and future directions in assessing the quality of evidence is offered.

随机对照试验(RCT)历来被认为是医学证据的黄金标准。然而,随着数据科学方法的兴起,许多专家对随机对照试验的作用提出了质疑。在此背景下,美国和加拿大的专家聚集一堂,讨论在数据科学方法论取得最新进展和大数据时代,随机对照试验作为医学证据黄金标准的首要地位是否仍然有效。本手稿旨在提高人们对研究性临床试验和观察性研究利弊的认识,以帮助指导临床医生、研究人员、学生和决策者就支持其工作的医学证据的质量做出明智的决定。特别是,这两种设计的新的和未被充分认识的优缺点进行了对比。此外,还讨论了这两种研究方法的创新之处,这些创新可能会模糊两者之间的界限。最后,还为临床医生提供了实用指南以及评估证据质量的未来方向。
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引用次数: 0
Unmet needs in EGFR exon 20 insertion mutations in Central and Eastern Europe: reimbursement, diagnostic procedures, and treatment availability. 中欧和东欧在表皮生长因子受体外显子 20 插入突变方面未满足的需求:报销、诊断程序和治疗的可用性。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-18 DOI: 10.1186/s12919-023-00287-6
Maximilian J Hochmair, Mojca Unk, Jelena Spasic, Timur Cerić, Assia Konsoulova, Mircea Dediu, Krisztina Bogos, Alinta Hegmane, Kersti Oselin, Marko Stojiljkovic, Tina Roblek, Marko Jakopovic

Lung cancer remains the leading cause of cancer-related deaths in Europe, with non-small cell lung cancer (NSCLC) accounting for approximately 85% of cases. NSCLC is a heterogeneous disease encompassing various oncogenic alterations. Among them, EGFR exon 20 insertion mutations, constituting 0.3-2.2% of NSCLC cases, rank as the third most common EGFR alteration after exon 19 deletions and the L858R point mutation in exon 21, also known as "typical" EGFR alterations. Recent advancements in understanding the molecular pathogenesis of NSCLC have led to significant breakthroughs in targeted therapies, revolutionizing treatment options for patients with specific genetic alterations.This article presents the outcomes of a Virtual Meeting conducted on the online platform (provided Within3©) from September 19 to October 30, 2022. The meeting focused on addressing the challenges in the diagnosis and treatment of NSCLC patients with EGFR exon 20 insertion mutations. The participants consisted of healthcare professionals from ten Central and Eastern European countries who shared their experiences and opinions on various aspects, including epidemiology, treatment options, and diagnostic approaches employed in their respective healthcare institutions. The discussions were facilitated through open-ended and multiple-choice questions.The primary objective of this article is to provide an overview of the identified challenges associated with the diagnosis and treatment of this heterogeneous disease, based on the assessments of the meeting participants. Among the major emerging challenges discussed, the reimbursement issues concerning next-generation sequencing (NGS), a recommended method in NSCLC molecular diagnosis, and the availability of approved targeted treatments to enhance patient outcomes were of paramount importance. Furthermore, fostering community awareness of lung cancer and promoting harmonized lung cancer care were identified as areas deserving greater attention. Notably, the rapidly evolving treatment landscape, particularly with NGS for NSCLC patients with genomic alterations like EGFR, ALK, RET, MET, NTRK, and ROS1, necessitates prioritizing the development of new drugs, even for the relatively smaller subgroup with exon 20 insertion mutations.

肺癌仍然是欧洲癌症相关死亡的主要原因,其中非小细胞肺癌(NSCLC)约占 85%。非小细胞肺癌是一种异质性疾病,包含多种致癌基因改变。其中,表皮生长因子受体 20 外显子插入突变占 NSCLC 病例的 0.3-2.2%,是继表皮生长因子受体 19 外显子缺失和 21 外显子 L858R 点突变之后第三大最常见的表皮生长因子受体改变,也被称为 "典型 "表皮生长因子受体改变。最近在了解 NSCLC 分子发病机制方面取得的进展使靶向治疗取得了重大突破,彻底改变了特定基因改变患者的治疗方案。本文介绍了 2022 年 9 月 19 日至 10 月 30 日在在线平台(Within3© 提供)上举行的虚拟会议的成果。会议重点讨论了表皮生长因子受体外显子20插入突变的NSCLC患者在诊断和治疗方面面临的挑战。与会者包括来自十个中欧和东欧国家的医疗保健专业人员,他们就流行病学、治疗方案和各自医疗机构采用的诊断方法等各个方面分享了经验和观点。本文的主要目的是根据与会者的评估,概述与诊断和治疗这种异质性疾病相关的挑战。在讨论的新出现的主要挑战中,下一代测序(NGS)的报销问题(NSCLC 分子诊断的推荐方法)和获批靶向治疗的可用性对提高患者疗效至关重要。此外,提高社区对肺癌的认识和促进协调肺癌护理也被认为是值得更加关注的领域。值得注意的是,随着治疗方法的快速发展,尤其是对患有表皮生长因子受体(EGFR)、ALK、RET、MET、NTRK 和 ROS1 等基因组改变的 NSCLC 患者进行 NGS 治疗,有必要优先开发新药,即使是针对 20 号外显子插入突变的相对较小的亚组。
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引用次数: 0
Editorial viewpoints of scientific publishing for early-career research scientists. 编辑对早期研究科学家科学出版工作的看法。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-16 DOI: 10.1186/s12919-023-00286-7
Pei-Chen Peng, Fadie T Coleman

While the structure and composition of the scientific manuscript is well known within scientific communities, insider knowledge such as the tricks of the trade and editorial viewpoints of scientific publishing are often less known to early-career research scientists. This article focuses on the key aspects of scientific publishing, including tips for success geared towards senior postdocs and junior faculty. It also highlights important considerations for getting manuscripts published in an efficient and successful manner.

虽然科学界对科学手稿的结构和组成了如指掌,但科学出版的诀窍和编辑观点等内幕知识却往往不为早期职业研究科学家所知。本文重点介绍科学出版的关键方面,包括针对高级博士后和初级教师的成功秘诀。文章还强调了以高效、成功的方式发表稿件的重要注意事项。
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引用次数: 0
Publisher Correction: Harnessing a decade of research at the Research Institute for Bioscience and Biotechnology in Kathmandu, Nepal: Proceedings of the Fourth International Conference ICBB-2022. 出版商更正:利用尼泊尔加德满都生物科学和生物技术研究所的十年研究成果:第四届 ICBB-2022 国际会议论文集。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-09 DOI: 10.1186/s12919-023-00282-x
Suvechhya Bastola, Remco Kort, Prajwal Rajbhandari
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引用次数: 0
Meeting Abstracts from the 5th B Chromosome Conference. 第五届B染色体会议纪要。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-11-30 DOI: 10.1186/s12919-023-00284-9
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引用次数: 0
Proceedings of the 4th National Big Data Health Science Conference. 第四届全国大数据健康科学会议论文集。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-11-23 DOI: 10.1186/s12919-023-00281-y
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引用次数: 0
Abstracts from the Student Medical Summit 2023. 2023年学生医学峰会摘要。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-11-10 DOI: 10.1186/s12919-023-00278-7
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引用次数: 0
Pandemic disruptions in vaccine uptake in a low-income setting: a qualitative inquiry. 在低收入环境中疫苗接种的流行性中断:定性调查。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-11-09 DOI: 10.1186/s12919-023-00283-w
Fauzia Aman Malik, Nazia Ahsan, Rawshan Jabeen, Osama Afzal, Alysha Siddiqi, Ayub Khan, Kathryn L Hopkins, Abdul Momin Kazi

Background: While the COVID-19 pandemic has exposed the vulnerabilities of immunization delivery systems globally, the devastating impact of the pandemic on immunization delivery is most pronounced in low and middle-income countries like Pakistan. We conducted a qualitative study to capture the views and experiences of parents and healthcare workers (HWs) and assess the impact of the COVID-19 pandemic on childhood routine immunization (CRI) and COVID-19 vaccination in Pakistan.

Methods: We used a qualitative research design with a purposive sampling approach. Semi-structured interviews (via telephone) and focus group discussions (via Zoom) were conducted with parents/child caregivers and HWs, respectively. All qualitative interviews were conducted between February and July 2021 from three sites (two urban and one rural) in Sindh, Pakistan. Interviews were audio-recorded, transcribed, and coded for a team-based thematic analysis.

Results: Overall, most parents and HWs indicated a strong trust in the benefits of CRI; nonetheless, a substantial disruption in the delivery and uptake of these services was also reported. The barriers towards CRI included closed vaccination centers, drastic reduction in outreach programs, lack of information for parents/child caregivers on vaccine availability, fear in the community regarding vaccine safety, limited vaccine supply, and a lack of healthcare staff. For COVID-19 vaccines, challenges cited included skepticism about the reality of the pandemic and confusion over COVID-19 vaccines due to conflicting (or mis-or-dis) information. Both participant groups showed a willingness to integrate COVID-19 vaccination into Pakistan's Expanded Program for Immunization if required in the future.

Conclusion: During the COVID-19 pandemic, disruptions of regular immunization delivery in Pakistan were not due to parental unwillingness to vaccinate, but rather to social and logistical challenges caused by a rapidly changing context and difficulties in providing vaccination services safely. Barriers to vaccine access and concerns about COVID-19 exposure during clinic visits also contributed to uncertainty regarding immunization services early in the pandemic. For catchup campaigns and future pandemics, more than focusing interventions on persuading people, strategic approaches to building resilience through system-based interventions, such as investing in surge capacity in the immunization workforce to bounce back quickly after the first shock are required.

背景:尽管 COVID-19 大流行暴露了全球免疫接种系统的脆弱性,但该大流行对免疫接种的破坏性影响在巴基斯坦等中低收入国家最为明显。我们开展了一项定性研究,以了解家长和医护人员(HWs)的观点和经验,并评估 COVID-19 大流行对巴基斯坦儿童常规免疫接种(CRI)和 COVID-19 疫苗接种的影响:我们采用了定性研究设计和目的性抽样方法。我们分别与家长/儿童看护者和保健工作者进行了半结构化访谈(通过电话)和焦点小组讨论(通过 Zoom)。所有定性访谈均于 2021 年 2 月至 7 月期间在巴基斯坦信德省的三个地点(两个城市和一个农村)进行。对访谈进行了录音、转录和编码,以便进行基于团队的专题分析:总体而言,大多数家长和保健工作者都表示非常信任儿童疾病预防和治疗的益处;然而,也有报告称,这些服务的提供和吸收受到了严重干扰。实现 CRI 的障碍包括:疫苗接种中心关闭、外联项目大幅减少、家长/儿童看护人缺乏有关疫苗供应的信息、社区对疫苗安全的恐惧、疫苗供应有限以及缺乏医疗保健人员。对于 COVID-19 疫苗,提到的挑战包括对大流行病的现实持怀疑态度,以及由于相互矛盾(或错误或不正确)的信息导致对 COVID-19 疫苗的混淆。两组参与者都表示,如果将来需要,愿意将 COVID-19 疫苗接种纳入巴基斯坦的扩大免疫计划:结论:在 COVID-19 大流行期间,巴基斯坦常规免疫接种服务的中断并不是由于家长不愿意接种疫苗,而是由于快速变化的环境和安全提供疫苗接种服务的困难所造成的社会和后勤挑战。疫苗接种方面的障碍以及对门诊就诊时接触 COVID-19 的担忧也导致了大流行早期免疫接种服务的不确定性。对于补种运动和未来的大流行,除了将干预重点放在说服人们上外,还需要采取战略方法,通过基于系统的干预措施来建立复原力,例如投资于免疫接种队伍的快速反应能力,以便在第一次冲击后迅速反弹。
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引用次数: 0
Abstracts from the International Conference Diversity Interventions 2022. 2022年国际会议多样性干预措施摘要。
Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-10-26 DOI: 10.1186/s12919-023-00275-w
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引用次数: 0
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