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Tryptophan degradation as a systems phenomenon in inflammation – an analysis across 13 chronic inflammatory diseases EBioMedicine (IF 11.1) Pub Date : 2024-03-11 Danielle M.M. Harris, Silke Szymczak, Sven Schuchardt, Johannes Labrenz, Florian Tran, Lina Welz, Hanna Graßhoff, Henner Zirpel, Melike Sümbül, Mhmd Oumari, Nils Engelbogen, Ralf Junker, Claudio Conrad, Diamant Thaçi, Norbert Frey, Andre Franke, Stephan Weidinger, Bimba Hoyer, Philip Rosenstiel, Silvio Waschina, Stefan Schreiber, Konrad Aden
Chronic inflammatory diseases (CIDs) are systems disorders that affect diverse organs including the intestine, joints and skin. The essential amino acid tryptophan (Trp) can be broken down to various bioactive derivatives important for immune regulation. Increased Trp catabolism has been observed in some CIDs, so we aimed to characterise the specificity and extent of Trp degradation as a systems phenomenon
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Comparison of two plasma p-tau217 assays to detect and monitor Alzheimer’s pathology EBioMedicine (IF 11.1) Pub Date : 2024-03-11 Joseph Therriault, Nicholas James Ashton, Ilaria Pola, Gallen Triana-Baltzer, Wagner Scheeren Brum, Guglielmo Di Molfetta, Burak Arslan, Nesrine Rahmouni, Cecile Tissot, Stijn Servaes, Jenna Stevenson, Arthur Cassa Macedo, Tharick Ali Pascoal, Hartmuth Christian Kolb, Andreas Jeromin, Kaj Blennow, Henrik Zetterberg, Pedro Rosa-Neto, Andrea Lessa Benedet
Blood-based biomarkers of Alzheimer’s disease (AD) have become increasingly important as scalable tools for diagnosis and determining clinical trial eligibility. P-tau217 is the most promising due to its excellent sensitivity and specificity for AD-related pathological changes. We compared the performance of two commercially available plasma p-tau217 assays (ALZpath p-tau217 and Janssen p-tau217+)
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Differential depletion of GluN2A induces heterogeneous schizophrenia-related phenotypes in mice EBioMedicine (IF 11.1) Pub Date : 2024-03-11 Yi Lu, Longyu Mu, Justin Elstrott, Chaoying Fu, Cailu Sun, Tonghui Su, Xiaofan Ma, Jia Yan, Hong Jiang, Jesse E. Hanson, Yang Geng, Yelin Chen
Schizophrenia, a debilitating psychiatric disorder, displays considerable interindividual variation in clinical presentations. The ongoing debate revolves around whether this heterogeneity signifies a continuum of severity linked to a singular causative factor or a collection of distinct subtypes with unique origins. Within the realm of schizophrenia, the functional impairment of GluN2A, a subtype
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The performance of 11 fingertip pulse oximeters during hypoxemia in healthy human participants with varied, quantified skin pigment EBioMedicine (IF 11.1) Pub Date : 2024-03-08 Gregory Leeb, Isabella Auchus, Tyler Law, Philip Bickler, John Feiner, Shamsudini Hashi, Ellis Monk, Elizabeth Igaga, Michael Bernstein, Yu Celine Chou, Caroline Hughes, Deleree Schornack, Jenna Lester, Kelvin Moore Jr., Olubunmi Okunlola, Jana Fernandez, Leonid Shmuylovich, Michael Lipnick
Fingertip pulse oximeters are widely available, inexpensive, and commonly used to make clinical decisions in many settings. Device performance is largely unregulated and poorly characterised, especially in people with dark skin pigmentation. Eleven popular fingertip pulse oximeters were evaluated using the US Food and Drug Administration (FDA) Guidance (2013) and International Organization for Standardization
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Metabolite signatures associated with microRNA miR-143-3p serve as drivers of poor lung function trajectories in childhood asthma EBioMedicine (IF 11.1) Pub Date : 2024-03-07 Kevin M. Mendez, Sofina Begum, Anshul Tiwari, Rinku Sharma, Qingwen Chen, Rachel S. Kelly, Nicole Prince, Mengna Huang, Priyadarshini Kachroo, Su H. Chu, Yulu Chen, Kathleen Lee-Sarwar, David I. Broadhurst, Stacey N. Reinke, Robert Gerszten, Clary Clish, Lydiana Avila, Juan C. Celedón, Craig E. Wheelock, Scott T. Weiss, Michael McGeachie, Jessica A. Lasky-Su
Lung function trajectories (LFTs) have been shown to be an important measure of long-term health in asthma. While there is a growing body of metabolomic studies on asthma status and other phenotypes, there are no prospective studies of the relationship between metabolomics and LFTs or their genomic determinants. We utilized ordinal logistic regression to identify plasma metabolite principal components
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Differential anti-viral response to respiratory syncytial virus A in preterm and term infants EBioMedicine (IF 11.1) Pub Date : 2024-03-06 Jeremy Anderson, Samira Imran, Yan Yung Ng, Tongtong Wang, Sarah Ashley, Cao Minh Thang, Le Quang Thanh, Vo Thi Trang Dai, Phan Van Thanh, Bui Thi Hong Nhu, Do Ngoc Xuan Trang, Phan Thi Phuong Trinh, Le Thanh Binh, Nguyen Thuong Vu, Nguyen Trong Toan, Boris Novakovic, Mimi L.K. Tang, Danielle Wurzel, Kim Mulholland, Daniel G. Pellicci, Lien Anh Ha Do, Paul V. Licciardi
Preterm infants are more likely to experience severe respiratory syncytial virus (RSV) disease compared to term infants. The reasons for this are multi-factorial, however their immature immune system is believed to be a major contributing factor. We collected cord blood from 25 preterm (gestational age 30.4–34.1 weeks) and 25 term infants (gestation age 37–40 weeks) and compared the response of cord
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A 14-gene B-cell immune signature in early-stage triple-negative breast cancer (TNBC): a pooled analysis of seven studies EBioMedicine (IF 11.1) Pub Date : 2024-03-05 Benedetta Conte, Fara Brasó-Maristany, Adela Rodríguez Hernández, Tomás Pascual, Guillermo Villacampa, Francesco Schettini, Maria J. Vidal Losada, Elia Seguí, Laura Angelats, Isabel Garcia-Fructuoso, Raquel Gómez-Bravo, Natàlia Lorman-Carbó, Laia Paré, Mercedes Marín-Aguilera, Olga Martínez-Sáez, Barbara Adamo, Esther Sanfeliu, Beatrice Fratini, Claudette Falato, Núria Chic, Ana Vivancos, Patricia
Early-stage triple-negative breast cancer (TNBC) displays clinical and biological diversity. From a biological standpoint, immune infiltration plays a crucial role in TNBC prognosis. Currently, there is a lack of genomic tools aiding in treatment decisions for TNBC. This study aims to assess the effectiveness of a B-cell/immunoglobulin signature (IGG) alone, or in combination with tumor burden, in
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May continuous positive airway pressure (CPAP) treatment be detrimental in obstructive sleep apnea? EBioMedicine (IF 11.1) Pub Date : 2024-03-02 Alessandra Castrogiovanni, Maria R. Bonsignore
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Upper limb movements as digital biomarkers in people with ALS EBioMedicine (IF 11.1) Pub Date : 2024-03-02 Marcin Straczkiewicz, Marta Karas, Stephen A. Johnson, Katherine M. Burke, Zoe Scheier, Tim B. Royse, Narghes Calcagno, Alison Clark, Amrita Iyer, James D. Berry, Jukka-Pekka Onnela
Objective evaluation of people with amyotrophic lateral sclerosis (PALS) in free-living settings is challenging. The introduction of portable digital devices, such as wearables and smartphones, may improve quantifying disease progression and hasten therapeutic development. However, there is a need for tools to characterize upper limb movements in neurologic disease and disability. Twenty PALS wore
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Pharmacokinetics of single dose doxycycline in the rectum, vagina, and urethra: implications for prevention of bacterial sexually transmitted infections EBioMedicine (IF 11.1) Pub Date : 2024-02-29 Richard E. Haaland, Jeffrey Fountain, Tiancheng E. Edwards, Chuong Dinh, Amy Martin, Deborah Omoyege, Christopher Conway-Washington, Colleen F. Kelley, Walid Heneine
Clinical trials showed a single oral dose of doxycycline taken after sex protects against STIs among men who have sex with men (MSM) but not women. Pharmacokinetic data at vaginal, rectal and penile sites of STI exposure are lacking. We examined vaginal, rectal and urethral doxycycline concentrations in men and women to better inform STI prevention. Doxycycline pharmacokinetics in male and female participants
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Dynamic establishment of recipient resident memory T cell repertoire after human intestinal transplantation EBioMedicine (IF 11.1) Pub Date : 2024-02-28 Wenyu Jiao, Mercedes Martinez, Constanza Bay Muntnich, Julien Zuber, Christopher Parks, Aleksandar Obradovic, Guangyao Tian, Zicheng Wang, Katherine D. Long, Elizabeth Waffarn, Kristjana Frangaj, Rebecca Jones, Alaka Gorur, Brittany Shonts, Kortney Rogers, Guoyue Lv, Monica Velasco, Shilpa Ravella, Joshua Weiner, Tomoaki Kato, Yufeng Shen, Jianing Fu, Megan Sykes
Understanding formation of the human tissue resident memory T cell (TRM) repertoire requires longitudinal access to human non-lymphoid tissues. By applying flow cytometry and next generation sequencing to serial blood, lymphoid tissue, and gut samples from 16 intestinal transplantation (ITx) patients, we assessed the origin, distribution, and specificity of human TRMs at phenotypic and clonal levels
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Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy EBioMedicine (IF 11.1) Pub Date : 2024-02-27 Aleksandra Mitina, Mahreen Khan, Robert Lesurf, Yue Yin, Worrawat Engchuan, Omar Hamdan, Giovanna Pellecchia, Brett Trost, Ian Backstrom, Keyi Guo, Linda M. Pallotto, Phoenix Hoi Lam Doong, Zhuozhi Wang, Thomas Nalpathamkalam, Bhooma Thiruvahindrapuram, Tanya Papaz, Christopher E. Pearson, Jiannis Ragoussis, Padmaja Subbarao, Meghan B. Azad, Stuart E. Turvey, Piushkumar Mandhane, Theo J. Moraes, Elinor
Cardiomyopathy is a clinically and genetically heterogeneous heart condition that can lead to heart failure and sudden cardiac death in childhood. While it has a strong genetic basis, the genetic aetiology for over 50% of cardiomyopathy cases remains unknown. In this study, we analyse the characteristics of tandem repeats from genome sequence data of unrelated individuals diagnosed with cardiomyopathy
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Identification of a distal enhancer regulating hedgehog interacting protein gene in human lung epithelial cells EBioMedicine (IF 11.1) Pub Date : 2024-02-27 Feng Guo, Li Zhang, Yuzhen Yu, Lu Gong, Shiyue Tao, Rhiannon B. Werder, Shreya Mishra, Yihan Zhou, Wardatul Jannat Anamika, Taotao Lao, Hiroyuki Inuzuka, Yihan Zhang, Betty Pham, Tao Liu, Tiffany S. Tufenkjian, Bradley W. Richmond, Wenyi Wei, Hongmei Mou, Andrew A. Wilson, Ming Hu, Wei Chen, Xiaobo Zhou
An intergenic region at chromosome 4q31 is one of the most significant regions associated with COPD susceptibility and lung function in GWAS. In this region, the implicated causal gene has a unique epithelial expression pattern in adult human lungs, in contrast to dominant expression in fibroblasts in murine lungs. However, the mechanism underlying the species-dependent cell type-specific regulation
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Variant to gene mapping for carpal tunnel syndrome risk loci implicates skeletal muscle regulatory elements EBioMedicine (IF 11.1) Pub Date : 2024-02-27 Matthew C. Pahl, Lin Liu, James A. Pippin, Yadav Wagley, Keith Boehm, Kurt D. Hankenson, Andrew D. Wells, Wenli Yang, Struan F.A. Grant
Carpal tunnel syndrome (CTS) is a common disorder caused by compression of the median nerve in the wrist, resulting in pain and numbness throughout the hand and forearm. While multiple behavioural and physiological factors influence CTS risk, a growing body of evidence supports a strong genetic contribution. Recent genome-wide association study (GWAS) efforts have reported 53 independent signals associated
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Taking a step beyond serology: progress in the search for a biomarker predicting the risk of maternal-fetal transmission of cytomegalovirus (CMV) EBioMedicine (IF 11.1) Pub Date : 2024-02-26 M, a, r, k, , R, ., , S, c, h, l, e, i, s, s
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Association between pre-diagnostic circulating lipid metabolites and colorectal cancer risk: a nested case–control study in the European Prospective Investigation into Cancer and Nutrition (EPIC) EBioMedicine (IF 11.1) Pub Date : 2024-02-26 Rhea Harewood, Joseph A. Rothwell, Jelena Bešević, Vivian Viallon, David Achaintre, Audrey Gicquiau, Sabina Rinaldi, Roland Wedekind, Cornelia Prehn, Jerzy Adamski, Julie A. Schmidt, Inarie Jacobs, Anne Tjønneland, Anja Olsen, Gianluca Severi, Rudolf Kaaks, Verena Katzke, Matthias B. Schulze, Marcela Prada, Giovanna Masala, Claudia Agnoli, Salvatore Panico, Carlotta Sacerdote, Paula Gabriela Jakszyn
Altered lipid metabolism is a hallmark of cancer development. However, the role of specific lipid metabolites in colorectal cancer development is uncertain. In a case–control study nested within the European Prospective Investigation into Cancer and Nutrition (EPIC), we examined associations between pre-diagnostic circulating concentrations of 97 lipid metabolites (acylcarnitines, glycerophospholipids
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Characterization of a human H3N8 influenza virus EBioMedicine (IF 11.1) Pub Date : 2024-02-25 Chunyang Gu, Shufang Fan, Randall Dahn, Lavanya Babujee, Shiho Chiba, Lizheng Guan, Tadashi Maemura, David Pattinson, Gabriele Neumann, Yoshihiro Kawaoka
In 2022 and 2023, novel reassortant H3N8 influenza viruses infected three people, marking the first human infections with viruses of this subtype. Here, we generated one of these viruses (A/Henan/4-10CNIC/2022; hereafter called A/Henan/2022 virus) by using reverse genetics and characterized it. In intranasally infected mice, reverse genetics-generated A/Henan/2022 virus caused weight loss in all five
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CPAP may promote an endothelial inflammatory milieu in sleep apnoea after coronary revascularization EBioMedicine (IF 11.1) Pub Date : 2024-02-24 Yuksel Peker, Yeliz Celik, Afrouz Behboudi, Susan Redline, Jing Lyu, Ying Wei, Daniel J. Gottlieb, Sanja Jelic
Continuous positive airway pressure (CPAP) has failed to reduce cardiovascular risk in obstructive sleep apnoea (OSA) in randomized trials. CPAP increases angiopoietin-2, a lung distension-responsive endothelial proinflammatory marker associated with increased cardiovascular risk. We investigated whether CPAP has unanticipated proinflammatory effects in patients with OSA and cardiovascular disease
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STING signalling compensates for low tumour mutation burden to drive anti-tumour immunity EBioMedicine (IF 11.1) Pub Date : 2024-02-23 Jiayi Tan, Colt A. Egelston, Weihua Guo, Jeremy M. Stark, Peter P. Lee
While mutation-derived neoantigens are well recognized in generating anti-tumour T cell response, increasing evidences highlight the complex association between tumour mutation burden (TMB) and tumour infiltrating lymphocytes (TILs). The exploration of non-TMB determinants of active immune response could improve the prognosis prediction and provide guidance for current immunotherapy. The transcriptomic
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Regulatory T cell: a double-edged sword from metabolic-dysfunction-associated steatohepatitis to hepatocellular carcinoma EBioMedicine (IF 11.1) Pub Date : 2024-02-23 Han Wang, Allan Tsung, Lopa Mishra, Hai Huang
Metabolic-dysfunction-associated steatotic liver disease (MASLD) is becoming a leading cause of end-stage liver disease globally. Metabolic-dysfunction-associated steatohepatitis (MASH) represents a progressive inflammatory manifestation of MASLD. MASH underlies a versatile and dynamic inflammatory microenvironment, accompanied by aberrant metabolism and ongoing liver regeneration, establishing itself
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Ventilatory capacity in CLAD is driven by dysfunctional airway structure EBioMedicine (IF 11.1) Pub Date : 2024-02-22 Pieterjan Kerckhof, Gene P.L. Ambrocio, Hanne Beeckmans, Janne Kaes, Vincent Geudens, Saskia Bos, Lynn Willems, Astrid Vermaut, Marie Vermant, Tinne Goos, Charlotte De Fays, Lucia Aversa, Yousry Mohamady, Arno Vanstapel, Michaela Orlitová, Jan Van Slambrouck, Xin Jin, Vimi Varghese, Iván Josipovic, Matthieu N. Boone, Lieven J. Dupont, Birgit Weynand, Adriana Dubbeldam, Dirk E. Van Raemdonck, Laurens
Chronic lung allograft dysfunction (CLAD) encompasses three main phenotypes: bronchiolitis obliterans syndrome (BOS), restrictive allograft syndrome (RAS) and a Mixed phenotype combining both pathologies. How the airway structure in its entirety is affected in these phenotypes is still poorly understood. A detailed analysis of airway morphometry was applied to gain insights on the effects of airway
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Phenome-wide Mendelian randomization analysis reveals multiple health comorbidities of coeliac disease EBioMedicine (IF 11.1) Pub Date : 2024-02-21 Shuai Yuan, Fangyuan Jiang, Jie Chen, Benjamin Lebwohl, Peter H.R. Green, Daniel Leffler, Susanna C. Larsson, Xue Li, Jonas F. Ludvigsson
Coeliac disease (CeD) has been associated with a broad range of diseases in observational data; however, whether these associations are causal remains undetermined. We conducted a phenome-wide Mendelian randomization analysis (MR-PheWAS) to investigate the comorbidities of CeD. Single nucleotide polymorphisms (SNPs) associated with CeD at the genome-wide significance threshold and without linkage disequilibrium
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A hypoxia biomarker does not predict benefit from giving chemotherapy with radiotherapy in the BC2001 randomised controlled trial EBioMedicine (IF 11.1) Pub Date : 2024-02-21 Tim A.D. Smith, Catharine M.L. West, Nuradh Joseph, Brian Lane, Joely Irlam-Jones, Elisabet More, Hitesh Mistry, Kimberley J. Reeves, Yee Pei Song, Mark Reardon, Peter J. Hoskin, Syed A. Hussain, Helen Denley, Emma Hall, Nuria Porta, Robert A. Huddart, Nick D. James, Ananya Choudhury
BC2001 showed combining chemotherapy (5-FU + mitomycin-C) with radiotherapy improves loco-regional disease-free survival in patients with muscle-invasive bladder cancer (MIBC). We previously showed a 24-gene hypoxia-associated signature predicted benefit from hypoxia-modifying radiosensitisation in BCON and hypothesised that only patients with low hypoxia scores (HSs) would benefit from chemotherapy
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Case report: Zika surveillance complemented with wastewater and mosquito testing EBioMedicine (IF 11.1) Pub Date : 2024-02-21 Judith Chui Ching Wong, Martin Tay, Hapuarachchige Chanditha Hapuarachchi, Benjamin Lee, Gladys Yeo, Dzulkhairul Maliki, Winston Lee, Nur-Afidah Mohamed Suhaimi, Kaiyun Chio, Wilson Cheong Huat Tan, Lee Ching Ng
In June 2023, a local cluster of 15 Zika cases was reported in a neighbourhood in Northeastern Singapore. The last significant local transmission of Zika virus (ZIKV) with more than 450 cases was in 2016–2017. To monitor the situation and mitigate further transmission, case, entomological and wastewater-based surveillance were carried out. Primary healthcare practitioners and the community were alerted
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Authors’ reply to Letter regarding “Probing Long COVID through a Proteomic Lens: a Comprehensive Two-Year Longitudinal Cohort Study of Hospitalised Survivor” EBioMedicine (IF 11.1) Pub Date : 2024-02-21 Xiaoying Gu, Catherine C.L. Wong, Bin Cao
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Single dose, dual antigen RNA vaccines protect against lethal Crimean-Congo haemorrhagic fever virus infection in mice EBioMedicine (IF 11.1) Pub Date : 2024-02-20 Shanna S. Leventhal, Kimberly Meade-White, Carl Shaia, Thomas Tipih, Mathew Lewis, Evan A. Mihalakakos, Troy Hinkley, Amit P. Khandhar, Jesse H. Erasmus, Heinz Feldmann, David W. Hawman
Crimean-Congo Haemorrhagic Fever Virus is a tick-borne bunyavirus prevalent across Asia, Africa, the Middle East, and Europe. The virus causes a non-specific febrile illness which may develop into severe haemorrhagic disease. To date, there are no widely approved therapeutics. Recently, we reported an alphavirus-based replicon RNA vaccine which expresses the CCHFV nucleoprotein (repNP) or glycoprotein
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Decentralised, collaborative, and privacy-preserving machine learning for multi-hospital data EBioMedicine (IF 11.1) Pub Date : 2024-02-19 Congyu Fang, Adam Dziedzic, Lin Zhang, Laura Oliva, Amol Verma, Fahad Razak, Nicolas Papernot, Bo Wang
Machine Learning (ML) has demonstrated its great potential on medical data analysis. Large datasets collected from diverse sources and settings are essential for ML models in healthcare to achieve better accuracy and generalizability. Sharing data across different healthcare institutions or jurisdictions is challenging because of complex and varying privacy and regulatory requirements. Hence, it is
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Unravelling long COVID: insights from proteomics and considerations for comprehensive understanding EBioMedicine (IF 11.1) Pub Date : 2024-02-19 Chengliang Yang, Casey P. Shannon, Scott J. Tebbutt
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In situ single-cell profiling sheds light on IFI27 localisation during SARS-CoV-2 infection EBioMedicine (IF 11.1) Pub Date : 2024-02-19 Chin Wee Tan, Jinjin Chen, Ning Liu, Dharmesh D. Bhuva, Tony Blick, James Monkman, Caroline Cooper, Malvika Kharbanda, Kristen Feher, Belinda Phipson, Emily E. Killingbeck, Liuliu Pan, Youngmi Kim, Yan Liang, Andy Nam, Michael Leon, Paulo Souza-Fonseca-Guimaraes, Seigo Nagashima, Ana Paula Camargo Martins, Cleber Machado-Souza, Lucia de Noronha, Benjamin Tang, Kirsty Short, John Fraser, Gabrielle T
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X-rays radiomics-based machine learning classification of atypical cartilaginous tumour and high-grade chondrosarcoma of long bones EBioMedicine (IF 11.1) Pub Date : 2024-02-19 Salvatore Gitto, Alessio Annovazzi, Kitija Nulle, Matteo Interlenghi, Christian Salvatore, Vincenzo Anelli, Jacopo Baldi, Carmelo Messina, Domenico Albano, Filippo Di Luca, Elisabetta Armiraglio, Antonina Parafioriti, Alessandro Luzzati, Roberto Biagini, Isabella Castiglioni, Luca Maria Sconfienza
Atypical cartilaginous tumour (ACT) and high-grade chondrosarcoma (CS) of long bones are respectively managed with active surveillance or curettage and wide resection. Our aim was to determine diagnostic performance of X-rays radiomics-based machine learning for classification of ACT and high-grade CS of long bones. This retrospective, IRB-approved study included 150 patients with surgically treated
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Using metabolomics and proteomics to identify the potential urine biomarkers for prediction and diagnosis of gestational diabetes EBioMedicine (IF 11.1) Pub Date : 2024-02-17 Jie Yu, Jing Ren, Yaolin Ren, Yifan Wu, Yuan Zeng, Qian Zhang, Xinhua Xiao
Gestational diabetes mellitus (GDM) is one of the most common metabolic complications during pregnancy, threatening both maternal and fetal health. Prediction and diagnosis of GDM is not unified. Finding effective biomarkers for GDM is particularly important for achieving early prediction, accurate diagnosis and timely intervention. Urine, due to its accessibility in large quantities, noninvasive collection
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Clinical implementation of preemptive pharmacogenomics in psychiatry EBioMedicine (IF 11.1) Pub Date : 2024-02-16 Maria Skokou, Kariofyllis Karamperis, Margarita-Ioanna Koufaki, Evangelia-Eirini Tsermpini, Maria-Theodora Pandi, Stavroula Siamoglou, Panagiotis Ferentinos, Marina Bartsakoulia, Theodora Katsila, Christina Mitropoulou, George P. Patrinos, Consortium of the PREPARE study in Greece, Konstantinos Assimakopoulos, Eleni Georgila, Philippos Gourzis, Aikaterini Karaivazoglou, Olympia Prodromaki, George Rigas
Pharmacogenomics (PGx) holds promise to revolutionize modern healthcare. Although there are several prospective clinical studies in oncology and cardiology, demonstrating a beneficial effect of PGx-guided treatment in reducing adverse drug reactions, there are very few such studies in psychiatry, none of which spans across all main psychiatric indications, namely schizophrenia, major depressive disorder
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Assessment of the antigenic evolution of a clade 6B.1 human H1N1pdm influenza virus revealed differences between ferret and human convalescent sera EBioMedicine (IF 11.1) Pub Date : 2024-02-16 Shufang Fan, Huihui Kong, Lavanya Babujee, Robert Presler Jr., Peter Jester, David Burke, David Pattinson, Ian Barr, Derek Smith, Gabriele Neumann, Yoshihiro Kawaoka
Influenza viruses continually acquire mutations in the antigenic epitopes of their major viral antigen, the surface glycoprotein haemagglutinin (HA), allowing evasion from immunity in humans induced upon prior influenza virus infections or vaccinations. Consequently, the influenza strains used for vaccine production must be updated frequently. To better understand the antigenic evolution of influenza
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Human PRH1, PRH2 susceptibility and resistance and Streptococcus mutans virulence phenotypes specify different microbial profiles in caries EBioMedicine (IF 11.1) Pub Date : 2024-02-15 Nongfei Sheng, Lena Mårell, Raviprakash Tumkur Sitaram, Gunnel Svensäter, Anna Westerlund, Nicklas Strömberg
Lifestyle- and sucrose-dependent polymicrobial ecological shifts are a primary cause of caries in populations with high caries prevalence. In populations with low prevalence, , susceptibility and resistance phenotypes may interact with the adhesin cariogenicity phenotype to affect caries progression, but studies are lacking on how these factors affect the microbial profile of caries. We analysed how
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Cholesterol in critical illness – a story evolving over a century EBioMedicine (IF 11.1) Pub Date : 2024-02-15 D, a, n, i, e, l, , A, ., , H, o, f, m, a, e, n, n, e, r
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Genomic characteristics and immune landscape of super multiple primary lung cancer EBioMedicine (IF 11.1) Pub Date : 2024-02-15 Zhenlin Yang, Bolun Zhou, Wei Guo, Yue Peng, He Tian, Jiachen Xu, Shuaibo Wang, Xiaowei Chen, Bin Hu, Chengming Liu, Zhijie Wang, Chunxiang Li, Shugeng Gao, Jie He
In recent years, a growing number of patients with multiple primary lung cancer (MPLC) are being diagnosed, and a subset of these patients is found to have a large number of lesions at the time of diagnosis, which are referred to as ‘super MPLC’. Here, we perform whole exome sequencing (WES) and immunohistochemistry (IHC) analysis of PD-L1 and CD8 on 212 tumor samples from 42 patients with super MPLC
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Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders EBioMedicine (IF 11.1) Pub Date : 2024-02-14 Walt E. Adamson, Harry Noyes, Paul Johnson, Anneli Cooper, Darren G. Monckton, John Ogunsola, Georgia Beckett-Hill, Michael Sullivan, Patrick Mark, Rulan S. Parekh, Annette MacLeod
variants G1 and G2 are common in populations with recent African ancestry. They are associated with protection from African sleeping sickness, however homozygosity or compound heterozygosity for these variants is associated with chronic kidney disease (CKD) and related conditions. What is not clear is the extent of associations with non-kidney-related disorders, and whether there are clusters of diseases
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Advancing dengue vaccination using a T-cell priming peptide approach EBioMedicine (IF 11.1) Pub Date : 2024-02-14 Jéssica Pires Farias, Alexander Birbrair, Jaime Henrique Amorim
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Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity EBioMedicine (IF 11.1) Pub Date : 2024-02-13 Philip Harrer, Julica Inderhees, Chen Zhao, Barbara Schormair, Erik Tilch, Christian Gieger, Annette Peters, Olaf Jöhren, Thomas Fleming, Peter P. Nawroth, Klaus Berger, Marco Hermesdorf, Juliane Winkelmann, Markus Schwaninger, Konrad Oexle
The dicarbonyl compounds methylglyoxal (MG), glyoxal (GO) and 3-deoxyglucosone (3-DG) have been linked to various diseases. However, disease-independent phenotypic and genotypic association studies with phenome-wide and genome-wide reach, respectively, have not been provided. MG, GO and 3-DG were measured by LC-MS in 1304 serum samples of two populations (KORA, n = 482; BiDirect, n = 822) and assessed
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Corrigendum to – “Single oral dose for HIV pre or post-exposure prophylaxis: user desirability and biological efficacy in macaques” [eBioMedicine 58(2020) 102894] EBioMedicine (IF 11.1) Pub Date : 2024-02-13 Ivana Massud, Susan Ruone, Maria Zlotorzynska, Richard Haaland, Patrick Mills, Mian-er Cong, Kristen Kelley, Ryan Johnson, Angela Holder, Chuong Dinh, George Khalil, Yi Pan, Colleen F. Kelley, Travis Sanchez, Walid Heneine, J. Gerardo García-Lerma
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Guidance for use of neurofilament light chain as a cerebrospinal fluid and blood biomarker in multiple sclerosis management EBioMedicine (IF 11.1) Pub Date : 2024-02-13 Mark S. Freedman, Sharmilee Gnanapavan, Ronald A. Booth, Peter A. Calabresi, Michael Khalil, Jens Kuhle, Jan Lycke, Tomas Olsson, Consortium of Multiple Sclerosis Centers
Neurofilament light chain (NfL) is a long-awaited blood biomarker that can provide clinically useful information about prognosis and therapeutic efficacy in multiple sclerosis (MS). There is now substantial evidence for this biomarker to be used alongside magnetic resonance imaging (MRI) and clinical measures of disease progression as a decision-making tool for the management of patients with MS. Serum
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Body size and risk of colorectal cancer molecular defined subtypes and pathways: Mendelian randomization analyses EBioMedicine (IF 11.1) Pub Date : 2024-02-12 Nikos Papadimitriou, Conghui Qu, Tabitha A. Harrison, Alaina M. Bever, Richard M. Martin, Konstantinos K. Tsilidis, Polly A. Newcomb, Stephen N. Thibodeau, Christina C. Newton, Caroline Y. Um, Mireia Obón-Santacana, Victor Moreno, Hermann Brenner, Marko Mandic, Jenny Chang-Claude, Michael Hoffmeister, Andrew J. Pellatt, Robert E. Schoen, Sophia Harlid, Shuji Ogino, Tomotaka Ugai, Daniel D. Buchanan
Obesity has been positively associated with most molecular subtypes of colorectal cancer (CRC); however, the magnitude and the causality of these associations is uncertain. We used Mendelian randomization (MR) to examine potential causal relationships between body size traits (body mass index [BMI], waist circumference, and body fat percentage) with risks of Jass classification types and individual
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Therapeutic potential of alternative splicing in cardiovascular diseases EBioMedicine (IF 11.1) Pub Date : 2024-02-12 Jun Cao, Ziyu Wei, Yu Nie, Hou-Zao Chen
RNA splicing is an important RNA processing step required by multiexon protein-coding mRNAs and some noncoding RNAs. Precise RNA splicing is required for maintaining gene and cell function; however, mis-spliced RNA transcripts can lead to loss- or gain-of-function effects in human diseases. Mis-spliced RNAs induced by gene mutations or the dysregulation of splicing regulators may result in frameshifts
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Affordable blood culture systems from China: in vitro evaluation for use in resource-limited settings EBioMedicine (IF 11.1) Pub Date : 2024-02-12 Liselotte Hardy, Tine Vermoesen, Els Genbrugge, Alessandra Natale, Céline Franquesa, Birgitta Gleeson, Cecilia Ferreyra, Peter Dailey, Jan Jacobs
Bloodstream infections (BSI) pose a significant threat due to high mortality rates and the challenges posed by antimicrobial resistance (AMR). In 2019, an estimated 4.95 million deaths were linked to bacterial AMR. The highest impact was seen in resource-limited settings (RLS). For diagnosis of BSI, performant continuously-monitoring blood culture systems (CMBCS) have been optimized. However, in RLS
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(Predictable) performance bias in unsupervised anomaly detection EBioMedicine (IF 11.1) Pub Date : 2024-02-09 Felix Meissen, Svenja Breuer, Moritz Knolle, Alena Buyx, Ruth Müller, Georgios Kaissis, Benedikt Wiestler, Daniel Rückert
With the ever-increasing amount of medical imaging data, the demand for algorithms to assist clinicians has amplified. Unsupervised anomaly detection (UAD) models promise to aid in the crucial first step of disease detection. While previous studies have thoroughly explored fairness in supervised models in healthcare, for UAD, this has so far been unexplored. In this study, we evaluated how dataset
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Tumoral and stromal hMENA isoforms impact tertiary lymphoid structure localization in lung cancer and predict immune checkpoint blockade response in patients with cancer EBioMedicine (IF 11.1) Pub Date : 2024-02-09 Francesca Di Modugno, Anna Di Carlo, Sheila Spada, Belinda Palermo, Lorenzo D'Ambrosio, Daniel D'Andrea, Gaia Morello, Beatrice Belmonte, Isabella Sperduti, Vittoria Balzano, Enzo Gallo, Roberta Melchionna, Mariangela Panetta, Giulia Campo, Francesca De Nicola, Frauke Goeman, Barbara Antoniani, Silvia Carpano, Gianmaria Frigè, Sarah Warren, Filippo Gallina, Diether Lambrechts, Jieyi Xiong, Benjamin
Tertiary Lymphoid Structures (TLS) correlate with positive outcomes in patients with NSCLC and the efficacy of immune checkpoint blockade (ICB) in cancer. The actin regulatory protein hMENA undergoes tissue-specific splicing, producing the epithelial hMENA linked to favorable prognosis in early NSCLC, and the mesenchymal hMENAΔv6 found in invasive cancer cells and pro-tumoral cancer-associated fibroblasts
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Short-chain fatty acids (SCFA) in infants’ plasma and corresponding mother’s milk and plasma in relation to subsequent sensitisation and atopic disease EBioMedicine (IF 11.1) Pub Date : 2024-02-09 Malin Barman, Monica Gio-Batta, Léna Andrieux, Mia Stråvik, Robert Saalman, Rikard Fristedt, Hardis Rabe, Anna Sandin, Agnes E. Wold, Ann-Sofie Sandberg
Short-chain fatty acids (SCFAs) in intestinal contents may influence immune function, while less is known about SCFAs in blood plasma. The aims were to investigate the relation between infants’ and maternal plasma SCFAs, as well as SCFAs in mother’s milk, and relate SCFA concentrations in infant plasma to subsequent sensitisation and atopic disease. Infant plasma (N = 148) and corresponding mother’s
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Molecular epidemiology and clinical impact of Klebsiella spp. causing bloodstream infections in Hong Kong EBioMedicine (IF 11.1) Pub Date : 2024-02-09 Xuemei Yang, Man-Yee Man, Heng Heng, Bill Kwan-Wai Chan, Qiao Hu, Edward Wai-Chi Chan, Hoi-Ping Shum, Sheng Chen
The epidemiological features of the causing bloodstream infections in Hong Kong and their potential threats to human health remained unknown. strains collected from four hospitals in Hong Kong during the period of 2009–2018 were subjected to molecular typing, string test, antimicrobial susceptibility testing, whole genome sequencing and analysis. Clinical data of patients from whom these strains were
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Genome-wide association study identifies genetic regulation of oestrone concentrations and association with endometrial cancer risk in postmenopausal women EBioMedicine (IF 11.1) Pub Date : 2024-02-06 Chenglong Yu, Andrew Bakshi, Robin J. Bell, Rakibul M. Islam, David J. Handelsman, John J. McNeil, Paul Lacaze, Susan R. Davis
Oestrone, predominantly made in fat, is the main circulating oestrogen and important for target tissue oestradiol production in women after menopause. The present study was undertaken to determine the genetic regulation of blood oestrone, measured with precision, in postmenopausal women and to explore associations between the identified genetic loci and endometrial cancer in a large, independent cohort
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Targeted macrophage phagocytosis by Irg1/itaconate axis improves the prognosis of intracerebral hemorrhagic stroke and peritonitis EBioMedicine (IF 11.1) Pub Date : 2024-02-06 Zhaoli Luo, Ziyang Sheng, Liye Hu, Lei Shi, Yichen Tian, Xiaochu Zhao, Wei Yang, Zhongnan Xiao, Danmin Shen, Weihua Wu, Ting Lan, Boqian Zhao, Xiaogang Wang, Nan Zhuang, Jian-Nan Zhang, Yamei Wang, Yabin Lu, Liyong Wang, Chenguang Zhang, Peipei Wang, Jing An, Fei Yang, Qian Li
Macrophages are innate immune cells whose phagocytosis function is critical to the prognosis of stroke and peritonitis. -aconitic decarboxylase immune-responsive gene 1 (Irg1) and its metabolic product itaconate inhibit bacterial infection, intracellular viral replication, and inflammation in macrophages. Here we explore whether itaconate regulates phagocytosis. Phagocytosis of macrophages was investigated
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Cross talk between the liver microbiome and epigenome in patients with metabolic dysfunction-associated steatotic liver disease EBioMedicine (IF 11.1) Pub Date : 2024-02-05 Carlos Jose Pirola, Adrian Salatino, Tomas Fernández Gianotti, Gustavo Osvaldo Castaño, Martin Garaycoechea, Silvia Sookoian
The pathogenesis of MASLD (metabolic dysfunction-associated steatotic liver disease), including its severe clinical forms, involves complex processes at all levels of biological organization. This study examined the potential link between the liver microbiome profile and epigenetic factors. Liver microbial DNA composition was analysed using high throughput 16S rRNA gene sequencing in 116 individuals
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Association between pre-dementia psychiatric diagnoses and all-cause dementia is independent from polygenic dementia risks in the UK Biobank EBioMedicine (IF 11.1) Pub Date : 2024-02-05 Yun Freudenberg-Hua, Wentian Li, Un Jung Lee, Yilong Ma, Jeremy Koppel, Alison Goate
Psychiatric disorders have been associated with higher risk for future dementia. Understanding how pre-dementia psychiatric disorders (PDPD) relate to established dementia genetic risks has implications for dementia prevention. In this retrospective cohort study, we investigated the relationships between polygenic risk scores for Alzheimer's disease (AD PRS), PDPD, alcohol use disorder (AUD), and subsequent
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Validating a minipig model of reversible cerebral demyelination using human diagnostic modalities and electron microscopy EBioMedicine (IF 11.1) Pub Date : 2024-02-02 Mihai Ancău, Goutam Kumar Tanti, Vicki Marie Butenschoen, Jens Gempt, Igor Yakushev, Stephan Nekolla, Mark Mühlau, Christian Scheunemann, Sebastian Heininger, Benjamin Löwe, Erik Löwe, Silke Baer, Johannes Fischer, Judith Reiser, Sai S. Ayachit, Friederike Liesche-Starnecker, Jürgen Schlegel, Kaspar Matiasek, Martina Schifferer, Jan S. Kirschke, Thomas Misgeld, Tim Lueth, Bernhard Hemmer
Inflammatory demyelinating diseases of the central nervous system, such as multiple sclerosis, are significant sources of morbidity in young adults despite therapeutic advances. Current murine models of remyelination have limited applicability due to the low white matter content of their brains, which restricts the spatial resolution of diagnostic imaging. Large animal models might be more suitable
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Distinct intratumoral microbiome of young-onset and average-onset colorectal cancer EBioMedicine (IF 11.1) Pub Date : 2024-02-02 Shimoli V. Barot, Naseer Sangwan, Kanika G. Nair, Stephanie L. Schmit, Shao Xiang, Suneel Kamath, David Liska, Alok A. Khorana
The unexplained rise of young-onset CRC (CRC, age <50 years) is of concern. Evidence suggests that microbial dysbiosis may be a contributing factor, but the tumor microbial profile of CRC in comparison to average-onset CRC (CRC, age >60) has not been fully investigated. 16S rRNA amplicon sequencing was performed in tumor and paired adjacent non-malignant fresh frozen tissue specimens prospectively
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Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing EBioMedicine (IF 11.1) Pub Date : 2024-02-02 Brigitte H.W. Faas, Galuh Astuti, Willem J.G. Melchers, Annette Reuss, Christian Gilissen, Merryn V.E. Macville, Stijn A.I. Ghesquiere, Leonieke M.H. Houben, Malgorzata Ilona Srebniak, Geert Geeven, Janette C. Rahamat-Langendoen, Erik A. Sistermans, Jasper Linthorst
Prenatal hCMV infections can lead to severe embryopathy and neurological sequelae in neonates. Screening during pregnancy is not recommended by global societies, as there is no effective therapy. Recently, several groups showed that maternal–fetal hCMV transmission can be strongly reduced by administering anti-viral agents early in pregnancy. This calls for a screening method to identify at risk pregnancies
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Reactivation of Kaposi’s sarcoma-associated herpesvirus (KSHV) by SARS-CoV-2 in non-hospitalised HIV-infected patients EBioMedicine (IF 11.1) Pub Date : 2024-02-02 Humaira Lambarey, Melissa J. Blumenthal, Abeen Chetram, Wendy Joyimbana, Lauren Jennings, Catherine Orrell, Georgia Schäfer
While acute SARS-CoV-2 infection and associated inflammation resulted in substantial morbidity and mortality during the COVID-19 pandemic, particularly in unvaccinated patients, long-term effects of SARS-CoV-2 exposure for reactivation of latent oncogenic herpesviruses, such as KSHV, is unknown. We performed a longitudinal observational cross-sectional study on 407 non-hospitalised adult HIV-infected
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Impact of selective reporting of wound cultures on microbiology reports and antimicrobial-drug use on a wound-care ward in Finland: a retrospective cohort study EBioMedicine (IF 11.1) Pub Date : 2024-02-02 Jukka A. Torvikoski, Laura K. Lehtola, Maarit J. Ahava, Laura M. Pakarinen, Päivi J. Tissari, Anu S. Pätäri-Sampo
Selective reporting is a promising tool for antimicrobial stewardship, but in wound cultures, its effects on the use of antimicrobials are unknown. Our HUS Diagnostic Center Bacteriology laboratory refined its selective reporting protocol for wound cultures during 2017–2018. In this study we aimed to show our protocol's impact on the frequency of antimicrobial escalation. We performed a retrospective
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PubMed and beyond: biomedical literature search in the age of artificial intelligence EBioMedicine (IF 11.1) Pub Date : 2024-02-02 Qiao Jin, Robert Leaman, Zhiyong Lu
Biomedical research yields vast information, much of which is only accessible through the literature. Consequently, literature search is crucial for healthcare and biomedicine. Recent improvements in artificial intelligence (AI) have expanded functionality beyond keywords, but they might be unfamiliar to clinicians and researchers. In response, we present an overview of over 30 literature search tools
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Prediagnostic plasma metabolite concentrations and liver cancer risk: a population-based study of Chinese men EBioMedicine (IF 11.1) Pub Date : 2024-02-01 Zhuo-Ying Li, Qiu-Ming Shen, Jing Wang, Jia-Yi Tuo, Yu-Ting Tan, Hong-Lan Li, Yong-Bing Xiang
Previous metabolic profiling of liver cancer has mostly used untargeted metabolomic approaches and was unable to quantitate the absolute concentrations of metabolites. In this study, we examined the association between the concentrations of 186 targeted metabolites and liver cancer risk using prediagnostic plasma samples collected up to 14 years prior to the clinical diagnosis of liver cancer. We conducted