Decoding mutational signatures in breast cancer: Insights from a multi-cohort study by Margaux Betz, Andréa Witz, Julie Dardare, Cassandra Michel, Vincent Massard, Romain Boidot, Pauline Gilson, Jean-Louis Merlin, Alexandre Harlé

“…Purpose: Diagnosis and treatment decisions of hormonal breast cancers (BC) are now guided by genomic mutations determination, combined into mutational signatures, and provide insight into the patients’ genomic landscape. …”
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Expression of Sclerostin in Osteoporotic Fracture Patients Is Associated with DNA Methylation in the CpG Island of the SOST Gene by Yanming Cao, Bin Wang, Ding Wang, Dongxiang Zhan, Caiyuan Mai, Peng Wang, Qiushi Wei, Yamei Liu, Haibin Wang, Wei He, Liangliang Xu

“…The aim of this study is to investigate the involvement of CpG methylation in regulation of SOST expression in patients with primary osteoporosis. Methods. The diagnosis of osteoporosis was established on the basis of dual energy X-ray absorptiometry to measure BMD. …”
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The search for a blood-based biomarker for Myalgic Encephalomyelitis/ Chronic Fatigue Syndrome (ME/CFS): from biochemistry to electrophysiology by Krista S. P. Clarke, Caroline C. Kingdon, Michael Pycraft Hughes, Eliana Mattos Lacerda, Rebecca Lewis, Emily J. Kruchek, Robert A. Dorey, Fatima H. Labeed

“…To date there is no complete understanding of the triggering pathomechanisms of disease, and no quantitative biomarker available with sufficient sensitivity, specificity, and adoptability to provide conclusive diagnosis. Clinicians thus eliminate differential diagnoses, and rely on subjective, unspecific, and disputed clinical diagnostic criteria—a process that often takes years with patients being misdiagnosed and receiving inappropriate and sometimes detrimental care. …”
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Diagnostic Evaluation and Management of Chronic Thromboembolic Pulmonary Hypertension: A Clinical Practice Guideline by Sanjay Mehta, Doug Helmersen, Steeve Provencher, Naushad Hirani, Fraser D Rubens, Marc De Perrot, Mark Blostein, Kim Boutet, George Chandy, Carole Dennie, John Granton, Paul Hernandez, Andrew M Hirsch, Karen Laframboise, Robert D Levy, Dale Lien, Simon Martel, Gerard Shoemaker, John Swiston, Justin Weinkauf

“…Many care gaps exist in the diagnosis and management of CTEPH patients including lack of awareness, incomplete diagnostic assessment, and inconsistent use of surgical and medical therapies.…”
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Clinical analysis and case series report on autoimmune glial fibrillary acidic protein astrocytopathy presenting with autonomic dysfunction by Xiao Ke Wu, Guojie Zhai, Jin Ru Zhang, Hua Ping Du, Lan Hu, Shu Ye Yu, Hai Lun Hang, Sirui Han, Yanlin Zhang, Yuan Xu

“…These findings aim to establish a foundation for personalized diagnosis and treatment strategies in such patients.MethodWe performed a retrospective data analysis from three cases of GFAP-A involvement in autonomic nerves from the Ninth People’s Hospital of Suzhou and the Second Affiliated Hospital of Soochow University from 2020 to 2023. …”
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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

“…We identified five cases of KDT failure in female GLUT1DS patients, aged 10 days to 13 years at diagnosis. Predominant seizure types were absence seizures, with a few cases of clonic, tonic, or myoclonic seizures. …”
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The serum hepcidin and the hepcidin/ferritin ratio in NAFLD: a systematic review and meta-analysis by Jingmin Song, Heqing Wang, Xiaolian Gao, Fen Yang, Xinhong Zhu, Guiyuan Qiao, Ting Gan, Junxiu Tao

“…Further investigations are needed to fully elucidate the role of these variables in iron metabolism and their potential impact on the diagnosis, prevention, and management of NAFLD.…”
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Multi-Modal Fusion of Routine Care Electronic Health Records (EHR): A Scoping Review by Zina Ben-Miled, Jacob A. Shebesh, Jing Su, Paul R. Dexter, Randall W. Grout, Malaz A. Boustani

“…In particular, routine care EHR data are collected for a large number of patients.These data span multiple heterogeneous elements (i.e., demographics, diagnosis, medications, clinical notes, vital signs, and laboratory results) which contain semantic, concept, and temporal information. …”
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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

“…With current genetic testing, SMN1 copy number is determined; a diagnosis is reached when the copy number is zero. …”
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Pharmacist-led DE-eSCALation of opioids post-surgical dischargE (DESCALE) – A multi-centre, non-randomised, feasibility study protocol [version 2; peer review: 1 approved, 2 approv... by Ellie Santer, Julie H Hedayioglu, Vanessa J Short, Sabina Hulbert, Emma L Veale, Melanie Rees-Roberts, Johanna Theron

“…Participants aged ≥18 years who have undergone a surgical procedure at a single NHS trust in Southeast England and discharged with opioids and without a history of long-term opioid use, cancer diagnosis or study contraindications will be offered a Medicines Use Review (MUR) within 7-10 days of discharge. …”
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Comparison of Survival Outcomes of Lymphovascular Space Invasion-Negative and Lymphovascular Space Invasion - Positive Women with Stage IIIC Endometrioid Endometrial Cancer: A Case... by Zeliha Firat Cuylan, Mehmet Mutlu Meydanli, Murat Öz, Ahmet Taner Turan, Ozgur Akbayir, Murat Dede, Ali Ayhan

“…Cases and controls were matched in terms of age at diagnosis, grade of tumor, depth of myometrial invasion, sub-stage and adjuvant treatment. …”
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Tick-borne encephalitis vaccination in persons with a recent history of Lyme borreliosis: Insights from a Knowledge, Attitudes and Behaviour survey in Bavaria, Germany by Stefanie Böhm, Andreas Beyerlein, Volker Fingerle, Merle M. Böhmer, Manfred Wildner

“…Our study aimed to identify the reasons for and against TBE vaccination among persons at high risk for tick-borne diseases (TBD) based on recent diagnosis of Lyme borreliosis (LB) to inform future preventive measures.We invited persons with a recent course of LB notified between June and August 2019 to complete a self-reported questionnaire about their knowledge, attitudes and behaviours regarding TBD-related themes. …”
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Genomic and virulent characterization of a duck-associated Salmonella serovar Potsdam from China by Hongli An, Xiamei Kang, Chenhu Huang, Chenghao Jia, Jiaqi Chen, Yingying Huang, Qianzhe Cao, Yan Li, Biao Tang, Min Yue

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Formalin Fixation as Tissue Preprocessing for Multimodal Optical Spectroscopy Using the Example of Human Brain Tumour Cross Sections by Mona Stefanakis, Anita Lorenz, Jörg W. Bartsch, Miriam C. Bassler, Alexandra Wagner, Marc Brecht, Axel Pagenstecher, Jens Schittenhelm, Barbara Boldrini, Sabrina Hakelberg, Susan Noell, Christopher Nimsky, Marcos Tatagiba, Rainer Ritz, Karsten Rebner, Edwin Ostertag

“…As a consequence, spectroscopic methods represent an appropriate additional contrast for chemical and morphological information in neuropathological diagnosis and should be investigated to a greater extent. …”
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践行数智化健康管理理念，提升我国卒中患者管理质量和效率 Implementing the Concept of Digital Intelligent Health Management to Enhance the Quality and Efficiency of Stroke Patient Management in China... by 李星明1，宋西方2，武剑3，4，邱月4，杨宇彤1，过君君1，高雨润1，周立涵1 (LI Xingming1, SONG Xifang2, WU Jian3,4, QIU Yue4, YANG Yutong1, GUO Junjun1, GAO Yurun1, ZHOU Lihan1)

“…This paper analyzes the application progress and existing problems of digital intelligent health management for stroke patients from dimensions such as digital intelligent early diagnosis system, digital intelligent health intervention system, digital intelligent rehabilitation training assistance system, and digital intelligent follow-up management system. …”
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Screening Evaporative Dry Eyes Severity Using an Infrared Image by Qing Zhang, Yi Wu, Yilin Song, Guanghao Qin, Lanting Yang, Sumeet Singh Talwar, Tiezhu Lin, Gagan Deep Singh Talwar, Hongda Zhang, Ling Xu, Jonathan E Moore, Emmanuel Eric Pazo, Wei He

“…Due to the variability in presentation, diagnosis of DED consists of a combination of subjective and objective clinical tests. …”
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Salivary peptidomic profiling of chronic gingivostomatitis in cats by matrix‐assisted laser desorption/ionization‐time‐of‐flight mass spectrometry and nanoscale liquid chromatograp... by Sekkarin Ploypetch, Apisit Pornthummawat, Sittiruk Roytrakul, Janthima Jaresitthikunchai, Narumon Phaonakrop, Sabrina Wahyu Wardhani, Sitthichok Lacharoje, Somporn Techangamsuwan

“…We compared the salivary peptide profiles of diseased and healthy cats. The diagnosis of FCGS was confirmed by histopathology. …”
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RETRACTED ARTICLE: A prospective diagnostic model for breast cancer utilizing machine learning to examine the molecular immune infiltrate in HSPB6 by Lizhe Wang, Yu Wang, Yueyang Li, Li Zhou, Sihan Liu, Yongyi Cao, Yuzhi Li, Shenting Liu, Jiahui Du, Jin Wang, Ting Zhu

“…A machine learning model was developed in this study and specifically trained for breast cancer diagnosis using these genes, achieving high precision. …”
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Incidence and Predictors of Later Epilepsy in Neonates with Encephalopathy: The Impact of Electrographic Seizures by Carol M. Stephens, Jacopo Proietti, Sean R. Mathieson, Vicki Livingstone, Brian McNamara, Niamh McSweeney, Olivia O'Mahony, Brian H. Walsh, Deirdre M. Murray, Geraldine B. Boylan

“…Several potential predictors for the development of later epilepsy were identified including infants delivered vaginally, low Apgar scores at 1 and 5 min, severe HIE diagnosis, presence of ENS, a severely abnormal EEG background and an abnormal brain MRI. …”
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Comparison study of bioelectrical impedance analyzers for measuring lower limb muscle mass in middle-aged and elderly adults by Ai-Chun Huang, Hsueh-Kuan Lu, Chien-Wei Liang, Kuen-Chang Hsieh, Kuen-Chang Hsieh, Yi-Sung Tsai, Chung-Liang Lai, Chung-Liang Lai

“…Assessing leg muscle mass in middle-aged and elderly individuals is crucial for the prevention and diagnosis of sarcopenia. Current bioelectrical impedance analysis (BIA) devices are capable of measuring LLMM, but validation studies are limited. …”
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