Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel... by A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, B. Loeys, G. MacCarrick, J. Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, L. Van Laer, J. De Backer, L. Muiño-Mosquera

“…Results The developed specifications introduce modifications to 14 of the 28 ACMG/AMP evidence criteria and deem 6 criteria non-applicable. Some of these specifications include refining the minor allele frequency thresholds, creating a FBN1-specific flowchart for PVS1, defining functional domains of the protein, developing a point-based system of counting probands and instances of de novo occurrences, recommending a points-based method of accounting for family segregation data, and clarifying the applicable functional assays that should be considered. …”
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SinoMAKS—protocol of a randomised controlled trial to evaluate the Chinese version of the non-pharmacological, multimodal MAKS intervention for people with mild to moderate dementi... by Yu Liu, Olaf Gefeller, Jian Su, Ming Zhong, Elmar Graessel, André Kratzer, Petra Scheerbaum, Julia-Sophia Scheuermann, Yaping Ding, Jianwen Lu

“…Written informed consent will be obtained from all participants or—if applicable—their legal representatives. Results will be published in peer-reviewed scientific journals and conference presentations.Trial registration number ISRCTN10262531.…”
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Multi-physics ensemble modelling of Arctic tundra snowpack properties by G. J. Woolley, N. Rutter, L. Wake, V. Vionnet, C. Derksen, R. Essery, P. Marsh, R. Tutton, B. Walker, M. Lafaysse, D. Pritchard

“…Selecting these process representations in Arctic SVS2-Crocus will improve simulation of snow density profiles, which is crucial for many applications.</p>…”
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Students’ motives for enrolling in the master of nursing program in Croatia despite degree recognition uncertainties: a cross-sectional study by Andrea Vuksa, Vesna Mijoc, Ivica Matic, Marta Civljak, Marin Cargo, Snježana Cukljek, Kata Ivanisevic, Mario Marendic, Zrinka Puharic, Natasa Skitarelic, Sanja Zoranic, Marijana Neuberg, Dijana Majstorovic, Alen Brecek, Ivana Barac, Livia Puljak

“…Clinical trial registration Not applicable. This study was not a clinical trial.…”
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ALOXE3 expression predicts poor prognosis and modulates immune infiltration in colon adenocarcinoma by Liwen Zhao, Liya Zhao, Siyu Ye, Shengnan Jing, Han Yang, Yixin Qi, Zhaofeng Li, Zaiqing Jiang, Xuechuan Yan, Ke Wang, Yong-Jing Gao, Tianzhen He

“…Methods We analyzed transcriptomic and clinical data from 477 tumor and 41 adjacent normal tissue samples in the TCGA-COAD dataset to evaluate the expression levels of LOX family genes and their associations with overall survival. …”
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Association between sleep disorder and delirium in adult patients undergoing cardiac surgery: a retrospective cohort study by Beibei Wang, Qiao Liu, Dou Dou, Dongyun Bie, Ran An, Yuan Jia, Su Yuan, Fuxia Yan

“…Clinical trial number Not applicable.…”
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Butyrate-producing bacteria in pregnancy maintenance: mitigating dysbiosis-induced preterm birth by Azusa Uchida, Kenji Imai, Rika Miki, Tomonari Hamaguchi, Hiroshi Nishiwaki, Mikako Ito, Jun Ueyama, Satomi Hattori, Sho Tano, Kazuya Fuma, Seiko Matsuo, Takafumi Ushida, Kinji Ohno, Hiroaki Kajiyama, Tomomi Kotani

“…Trial registration Not applicable.…”
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Plasma and Urine Metabolites Associated With Nondiabetic Chronic Kidney Disease: The HELIUS Study by Charlotte M. Mosterd, Barbara J.H. Verhaar, Bert-Jan H. van den Born, Max Nieuwdorp, Daniel H. van Raalte

“…Rationale &amp; Objective: We aimed to find predictive plasma and urine metabolites for nondiabetic chronic kidney disease (CKD), and to validate these biomarkers in a diabetic kidney disease (DKD) population, using data of the population-based multiethnic Healthy Life in an Urban Setting study. …”
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High-throughput untargeted metabolomics reveals metabolites and metabolic pathways that differentiate two divergent pig breeds by S. Bovo, M. Bolner, G. Schiavo, G. Galimberti, F. Bertolini, S. Dall’Olio, A. Ribani, P. Zambonelli, M. Gallo, L. Fontanesi

“…These biomarkers can explain the biological differences between these two breeds and can have potential practical applications in pig breeding and husbandry.…”
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Neutrophil Percentage-to-Albumin Ratio and Neutrophil-to-Albumin Ratio as novel biomarkers for non-alcoholic fatty liver disease: a systematic review and meta-analysis by Amr Ali Mohamed Abdelgawwad El-Sehrawy, Maryam Jafari, Ahmed Hussein Zwamel, Pegah Rashidian, Suhas Ballal, Rishiv Kalia, Anima Nanda, Laxmidhar Maharana, Sepide Javankiani, Mohammad Hashemi, Ehsan Amini-Salehi

“…Clinical trial number Not applicable.…”
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The impact of preoperative atrial fibrillation on survival and outcomes in heartmate II and heartmate 3 patients by Rami Al-khusein, Alish Kolashov, Nikolaus Marx, Ajay Moza, Ahmad Abugameh, Yousif Ibrahim Mohamed, Assila Al-Ahmed, Mohammed Shoaib, Leyla Dogan, Rashad Zayat, Mohammad Amen Khattab

“…Clinical trial number: not applicable. Results Of the 56 (34.6%) patients with preoperative AF, 38 patients had pAF and 18 patients had peAF. …”
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The effects of non-insulin anti-diabetic medications on the diabetic microvascular complications: a systematic review and meta-analysis of randomized clinical trials by Song Wen, Yue Yuan, Yanyan Li, Chenglin Xu, Lijiao Chen, Yishu Ren, Congcong Wang, Yanju He, Xiucai Li, Min Gong, Xinlu Yuan, Dongxiang Xu, Chaoxun Wang, Ligang Zhou

“…Clinical trial number Not applicable.…”
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Driver Drowsiness Detection Using Swin Transformer and Diffusion Models for Robust Image Denoising by Samy Abd El-Nabi, Ahmed F. Ibrahim, El-Sayed M. El-Rabaie, Osama F. Hassan, Naglaa F. Soliman, Khalil F. Ramadan, Walid El-Shafai

“…Moreover, a detailed sensitivity analysis of data augmentation strategies reveals that techniques such as rotation and horizontal flip substantially enhance the model&#x2019;s generalization across variable visual inputs. …”
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SPEIPM-based research on drought impact on maize yield in North China Plain by Bo MING, Yin-qiao GUO, Hong-bin TAO, Guang-zhou LIU, Shao-kun LI, Pu WANG

“…This improvement increased the applicability of SPEI in North China Plain (NCP). The historic meteorological data during 1962–2011 were used to calculate SPEIPM. …”
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Impacts of prenatal nutrition on metabolic pathways in beef cattle: an integrative approach using metabolomics and metagenomics by Guilherme Henrique Gebim Polizel, Wellison J. S. Diniz, Aline Silva Mello Cesar, German D. Ramírez-Zamudio, Angela Cánovas, Evandro Fernando Ferreira Dias, Arícia Christofaro Fernandes, Barbara Carolina Teixeira Prati, Édison Furlan, Gabriela do Vale Pombo, Miguel Henrique de Almeida Santana

“…Clinical trial number Not applicable.…”
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Digital Biomarkers for Parkinson Disease: Bibliometric Analysis and a Scoping Review of Deep Learning for Freezing of Gait by Wenhao Qi, Shiying Shen, Chaoqun dong, Mengjiao Zhao, Shuaiqi Zang, Xiaohong Zhu, Jiaqi Li, Bin Wang, Yankai Shi, Yongze Dong, Huajuan Shen, Junling Kang, Xiaodong Lu, Guowei Jiang, Jingsong Du, Eryi Shu, Qingbo Zhou, Jinghua Wang, Shihua Cao

“…Future research will likely progress toward deeper applications of artificial intelligence, enhanced interinstitutional collaboration, comprehensive analysis of different data types, and the exploration of digital biomarkers for a broader range of Parkinson symptoms. …”
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Characterization of the novel cross-genus phage vB_SmaS_QH3 and evaluation of its antibacterial efficacy against Stenotrophomonas maltophilia by Peng Cheng, Peng Cheng, Zian Li, Lanmin Liu, Ruizhe Li, Jianwu Zhou, Xiaoqin Luo, Xiaoqin Luo, Xiaoming Mu, Jingwei Sun, Jideng Ma, Jideng Ma, Xiangren A

“…Based on Illumina whole-genome sequencing data, bioinformatics tools were employed for gene annotation, functional prediction, and phylogenetic analysis. …”
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Low anti-müllerian hormone levels increased early pregnancy loss rate in patients undergoing frozen-thawed euploid single blastocyst transfer: a retrospective cohort study by Lin Sun, Congli Zhang, Beining Yin, Jingdi Li, Zhiyi Yao, Mingxin Tian, Yuwei Zhu, Danyang Li, Fang Wang, Wei Dai, Zhiqin Bu, Yihong Guo, Yile Zhang

“…Clinical trial number Not applicable.…”
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A Systematic Review and Meta-Analysis of MIP-1α and MIP-1β Chemokines in Malaria in Relation to Disease Severity by Saruda Kuraeiad, Kwuntida Uthaisar Kotepui, Aongart Mahittikorn, Nsoh Godwin Anabire, Frederick Ramirez Masangkay, Polrat Wilairatana, Kinley Wangdi, Manas Kotepui

“…Meta-analysis was used to aggregate quantitative data utilizing a random-effects model. <i>Results</i>: A total of 1638 records were identified, with 20 studies meeting the inclusion criteria. …”
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Deep Learning–Driven Glaucoma Medication Bottle Recognition: A Multilingual Clinical Validation Study in Patients with Impaired Vision by Aidin C. Spina, BS, Christopher D. Yang, BS, Ayush Jain, BS, Christine Ha, BS, Lauren E. Chen, MD, Philina Yee, MD, Ken Y. Lin, MD, PhD

“…Survey data indicated that 81% of English speakers and 30% of non-English speakers found the app “very easy” to use, with the overall ease of use strongly associating with improved accuracy. …”
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