Adverse drug events (ADEs) risk signal mining related to eculizumab based on the FARES database by Xi-Feng Wang, Lu-Ri Bao, Ta-La Hu, Rui-Feng Xu, Wu-Niri Gao, Jing-Yuan Wang, Jian-Rong Zhao, Zhen-Li Fu, Shu-Fang Wang, Yan Meng

“…IntroductionEculizumab is a C5 complement inhibitor approved by the FDA for the targeted treatment of four rare diseases, paroxysmal nocturnal hemoglobinuria (PNH), atypical hemolytic uremic syndrome (aHUS), generalized myasthenia gravis (gMG), and aquaporin-4 immunoglobulin G-positive optic neuromyelitis optica spectrum disorders (AQP4-IgG+NMOSD). …”
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Palpitations, Shortness of Breath, Weakness in Limbs, Edema, and Dyspnea: A Rare Inflammatory Myopathy with Positive Aniti-mitochondrial Antibodies and Cardiac Involvement by LIANG Chunsu, ZHANG Xuchang, ZHANG Ning, KANG Lin, LIU Xiaohong, YU Jiaqi, LIU Yingxian, QIAO Lin, YANG Yanli, ZHAO Xiaoyi, ZHAO Ruijie, NIU Na, YAN Xuelian

“…The case underscores the importance of collaborative multidisciplinary approaches in diagnosing and treating rare diseases in elderly patients, where careful consideration of clinical manifestations and subtle abnormal clinical data can lead to effective interventions.…”
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Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal by Raffaele Falsaperla, Vincenzo Sortino, Gerhard Josef Kluger, Thomas Herberhold, Andrea Rüegger, Pasquale Striano, Martino Ruggieri, Joerg Klepper, Georgia Ramantani

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OMIC Technologies and Vaccine Development: From the Identification of Vulnerable Individuals to the Formulation of Invulnerable Vaccines by Nicola Cotugno, Alessandra Ruggiero, Veronica Santilli, Emma Concetta Manno, Salvatore Rocca, Sonia Zicari, Donato Amodio, Manuela Colucci, Paolo Rossi, Ofer Levy, Federico Martinon-Torres, Andrew J. Pollard, Paolo Palma

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Application of large language models in disease diagnosis and treatment by Xintian Yang, Tongxin Li, Qin Su, Yaling Liu, Chenxi Kang, Yong Lyu, Lina Zhao, Yongzhan Nie, Yanglin Pan, Yuanyuan Ji

“…They can enhance diagnostic accuracy by processing vast amounts of patient data and medical literature and have demonstrated their utility in diagnosing common diseases and facilitating the identification of rare diseases by recognizing subtle patterns in symptoms and test results. …”
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Case report: Novel ACTN4 variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation by Ignacio Alarcón, Carolina Peralta, Francisco Cammarata-Scalisi, Maykol Araya Castillo, Francisco Cano, Francisco Cano, Angélica Rojo, María Luisa Ceballos, María Luisa Ceballos, Paola Krall, Paola Krall

“…At 14 years old, he received a deceased donor kidney allograft without recurrence during the subsequent 5 months.ConclusionsIdentifying VUS is a recurring challenge in routine clinical genetics, particularly for patients with rare diseases or atypical phenotypes in underrepresented populations. …”
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Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colomb... by Diego Medina, Jhonier Orlando Castro, David Esteban Castro, Estefanía Beltrán, Eliana Manzi, Alexis Antonio Franco, Manuela Olaya

“…Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy. …”
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A novel way to use cross-validation to measure connectivity by machine learning allows epilepsy surgery outcome prediction by Karla Ivankovic, Alessandro Principe, Justo Montoya-Gálvez, Linus Manubens-Gil, Riccardo Zucca, Pablo Villoslada, Mara Dierssen, Rodrigo Rocamora

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Safety and efficacy of filgotinib in patients with rheumatoid arthritis: final results of the DARWIN 3 long-term extension study by Arthur Kavanaugh, Paul Emery, René Westhovens, Mark C Genovese, Kevin L Winthrop, Rieke Alten, Dick de Vries, Lorenzo Dagna, Patrick Verschueren, Maria Greenwald, Regina Cseuz, Robin Besuyen, Vikas Modgill, Ly Huong Le

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Real-world treatment patterns and clinical characteristics in patients with moderate-to-severe systemic lupus erythematosus: an analysis of the SLE Prospective Observational Cohort... by Raj Tummala, Richard A Furie, Laurent Arnaud, Eric F Morand, Martin Aringer, Stephanie Chen, Barnabas Desta, Alberta Hoi, Bo Ding, Christine Peschken, Jonatan Hedberg, Tina Grünfeld Eén, Alessandro Sorrentino, Danuta Kielar

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The role of activated partial thrombin time in mediating the impact of poorly glycemic control on diabetic peripheral neuropathy in patients with type 2 diabetes mellitus by Hui Zhang, Minghui Chen, Lijie Sun, Wenwen Zhu, Wenwen Zhu, Tong Niu, Huzaifa Fareeduddin Mohammmed Farooqui, Hongxiao Wang, Bing Song, Jumei Wang, Haoqiang Zhang

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Cardiomyopathy and kidney function in agalsidase beta‐treated female Fabry patients: a pre‐treatment vs. post‐treatment analysis by Christoph Wanner, Ulla Feldt‐Rasmussen, Ana Jovanovic, Aleš Linhart, Meng Yang, Elvira Ponce, Eva Brand, Dominique P. Germain, Derralynn A. Hughes, John L. Jefferies, Ana Maria Martins, Albina Nowak, Bojan Vujkovac, Frank Weidemann, Michael L. West, Alberto Ortiz

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Effect of retirement on the body mass index in China: a nationwide study based on the regression discontinuity design by Jiarun Mi, Xueyan Han, Hanchao Cheng, Zhaoyang Pan, Jian Guo, Hailu Zhu, Qi Wang, Yicong Wang, Yuanli Liu, Congyi Zheng, Xin Wang, Xue Cao, Zhen Hu, Yixin Tian, Zengwu Wang, Tianjia Guan

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Immunomodulatory and growth-promoting effects of Rauwolfia serpentina root powder in broiler chicks challenged with Salmonella Gallinarum by Yingyu Zhang, Hiba Rehman, Farina Khattak, Maryam Tariq, Bushra Nisar Khan, Sadia Chaman, Ayaesha Riaz, Muhammad Ovais Omer, Aqib Ali, Qamar un Nisa, Muhammad Muddassir Ali, Gulbeena Saleem

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Clinical implication of NT-proBNP to predict mortality in patients with acute type A aortic dissection: a retrospective cohort study by Rui Zhang, Hao Wang, Chenxi Song, Rui Fu, Kefei Dou, Shuai Liu, Qianqian Liu, Xiaohui Bian, Weida Liu, Chengang Zhu, Jingjing Gao, Sheng Yuan, Xinming Cui, Sijia Qin, Yumeng Li

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Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network by Antonio Vitale, Jurgen Sota, Laura Obici, Nicola Ricco, Maria Cristina Maggio, Marco Cattalini, Piero Ruscitti, Francesco Caso, Raffaele Manna, Ombretta Viapiana, Valeria Caggiano, Giacomo Emmi, Antonella Insalaco, Davide Montin, Francesco Licciardi, Alessandra Soriano, Lorenzo Dagna, Carlo Salvarani, Vittoria Lamacchia, José Hernández-Rodríguez, Roberto Giacomelli, Bruno Frediani, Alessandra Renieri, Luca Cantarini

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Regional adipose distribution and metabolically unhealthy phenotype in Chinese adults: evidence from China National Health Survey by Binbin Lin, Yaoda Hu, Huijing He, Xingming Chen, Qiong Ou, Yawen Liu, Tan Xu, Ji Tu, Ang Li, Qihang Liu, Tianshu Xi, Zhiming Lu, Weihao Wang, Haibo Huang, Da Xu, Zhili Chen, Zichao Wang, Guangliang Shan

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Liver transcriptome analysis reveals PSC-attributed gene set associated with fibrosis progression by Alena Laschtowitz, Eric L. Lindberg, Anna-Maria Liebhoff, Laura Anne Liebig, Christian Casar, Silja Steinmann, Adrien Guillot, Jun Xu, Dorothee Schwinge, Michael Trauner, Ansgar Wilhelm Lohse, Stefan Bonn, Norbert Hübner, Christoph Schramm

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New rectum dose surface mapping methodology to identify rectal subregions associated with toxicities following prostate cancer radiotherapy by Artemis Bouzaki, Dylan Green, Marcel van Herk, Jane Shortall, Tanuj Puri, Sarah Kerns, David Azria, Marrie-Pierre Farcy-Jacquet, Jenny Chang-Claude, Ananya Choudhury, Alison Dunning, Maarten Lambrecht, Barbara Avuzzi, Dirk De Ruysscher, Petra Seibold, Elena Sperk, Christopher Talbot, Ana Vega, Liv Veldeman, Adam Webb, Barry Rosenstein, Catharine M. West, Eliana Gioscio, Tiziana Rancati, Eliana Vasquez Osorio, Alan McWilliam

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Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA... by Carla Gaggiano, Antonio Vitale, Laura Obici, Giampaolo Merlini, Alessandra Soriano, Ombretta Viapiana, Marco Cattalini, Maria Cristina Maggio, Giuseppe Lopalco, Davide Montin, Masen Abdel Jaber, Lorenzo Dagna, Raffaele Manna, Antonella Insalaco, Matteo Piga, Francesco La Torre, Virginia Berlengiero, Viviana Gelardi, Luisa Ciarcia, Giacomo Emmi, Piero Ruscitti, Francesco Caso, Rolando Cimaz, José Hernández-Rodríguez, Paola Parronchi, Ludovico Luca Sicignano, Elena Verrecchia, Florenzo Iannone, Jurgen Sota, Salvatore Grosso, Carlo Salvarani, Bruno Frediani, Roberto Giacomelli, Maria Antonietta Mencarelli, Alessandra Renieri, Donato Rigante, Luca Cantarini

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