Article
Immunology
Yung-Hsiang Chao, Chin-Hsiu Liu, Yu-An Pan, Fu-Shun Yen, Jeng-Yuan Chiou, James Cheng-Chung Wei
Summary: This population-based cohort study found that patients with a history of endometriosis have an increased risk of developing Sjogren's syndrome, especially within the first five years after diagnosis, and in the age group of 20-39.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Balazs Sonkodi, Laszlo Marsovszky, Anita Csorba, Attila Balog, Bence Kopper, Zoltan Zsolt Nagy, Miklos D. Resch
Summary: The objective of this study was to analyze the neural regeneration activity in the cornea of systemic lupus erythematosus patients with dry eye disease. The study found that corneal nerve fiber density and peripheral Langerhans cell morphology were lower in lupus patients compared to the control group. The results also showed a negative correlation between corneal nerve measurements and disease duration, as well as between corneal nerve density and Langerhans cell density.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Rheumatology
Hilde Julie T. Lien, Tina T. Pedersen, Bente Jakobsen, Arnar Flatberg, Konika Chawla, Pal Saetrom, Mona H. Fenstad
Summary: The study compared cellular composition and peripheral blood gene expression in Rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and healthy pregnancies. The results showed distinct RA, SLE, and pregnancy signatures that were not attributed to medication or disease activity. The study supports the need for close postpartum follow-up of patients with SLE and highlights the importance of cell-type adjustment in gene expression analysis.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Yu-Hao Xue, Liang-Tian You, Hsin-Fu Ting, Yu-Wen Chen, Zi-Yun Sheng, Yi-Dong Xie, Yu-Hsun Wang, Jeng-Yuan Chiou, James Cheng-Chung Wei
Summary: This retrospective cohort study found that patients with endometriosis have a higher risk of RA, especially in those who are older and have autoimmune diseases. The relationship between endometriosis and RA needs to be considered in the clinical management of patients with RA.
Review
Immunology
Antonio Marinho, Jose Delgado Alves, Jorge Fortuna, Raquel Faria, Isabel Almeida, Gloria Alves, Joao Araujo Correia, Ana Campar, Mariana Brandao, Jorge Crespo, Daniela Marado, Joao Matos-Costa, Susana Oliveira, Fernando Salvador, Lelita Santos, Fatima Silva, Milene Fernandes, Carlos Vasconcelos
Summary: "Evidence and practice-based guidance for off-label use of biologics in SLE, APS, and SS: a comprehensive literature review and expert consensus resulted in 32 final recommendations, considering organ involvement, manifestations, severity, and response to previous treatments."
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Rheumatology
Ebru Atalar, Fatma Gul Yurdakul, Kevser Gok, Tuba Guler, Sukran Erten, Evren Yasar, Hatice Bodur
Summary: Autoimmune rheumatic diseases can involve the nervous system, including both the central and peripheral nervous systems. A case is presented of a patient with lower motor neuron disease and overlap syndrome, which showed significant improvement after treatment. Clinicians should investigate patients with neurological symptoms for autoimmune rheumatic diseases.
RHEUMATOLOGY INTERNATIONAL
(2023)
Review
Immunology
Mingxuan Chi, Kuai Ma, Yunlong Li, Min Quan, Zhongyu Han, Zhaolun Ding, Xin Liang, Qinxiu Zhang, Linjiang Song, Chi Liu
Summary: Systemic lupus erythematosus (SLE) is a typical autoimmune disease characterized by multiple immunoregulatory abnormalities that lead to damage to various tissues and organs. Researchers have identified aberrant expression of miRNAs in SLE patients, which may be associated with abnormal immune responses and disease progression in SLE.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Marcio Luis Acencio, Marek Ostaszewski, Alexander Mazein, Philip Rosenstiel, Konrad Aden, Neha Mishra, Vibeke Andersen, Prodromos Sidiropoulos, Aggelos Banos, Anastasia Filia, Souad Rahmouni, Axel Finckh, Wei Gu, Reinhard Schneider, Venkata Satagopam
Summary: Chronic inflammatory diseases involve complex molecular mechanisms and pose challenges for effective treatments. Using a systemic network model can help understand the interaction of key pathways. The SYSCID map is an interactive causal interaction network that aids in understanding the molecular mechanisms of inflammatory bowel disease, rheumatoid arthritis, and systemic lupus erythematosus, as well as the complexity of omics data.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Naeun Yoon, Ah-Kyung Jang, Yerim Seo, Byung Hwa Jung
Summary: This paper outlines recent advances in metabolomics research of autoimmune diseases such as rheumatoid arthritis, multiple sclerosis, and systemic lupus erythematosus, describing newly discovered biomarkers and metabolic mechanism studies for these diseases. It also presents studies elucidating the metabolic mechanisms underlying these diseases and summarizes biomarker studies aimed at predicting personalized medicine and drug response.
Article
Medicine, General & Internal
Lambros Athanassiou, Ifigenia Kostoglou-Athanassiou, Georgia Kaiafa, Pavlos Tsakiridis, Nikolaos Koukosias, Spyridon Mitsoulis, Christos Savopoulos, Panagiotis Athanassiou
Summary: This study aims to evaluate the relationship between SLE and autoimmune thyroid disease. It found that SLE patients have a higher incidence of clinical thyroid disease and detectable antithyroid antibodies. Evaluating thyroid disease should be considered in SLE patients.
MEDICINA-LITHUANIA
(2023)
Article
Medicine, General & Internal
Maria Pina Dore, Giuseppe Fanciulli, Malik Rouatbi, Sandro Mereu, Giovanni Mario Pes
Summary: This retrospective case-control study aimed to explore the prevalence of thyroid disorders (TDs) in adult celiac patients from Northern Sardinia. The results showed a significantly higher incidence of autoimmune thyroid disorders in celiac patients compared to non-autoimmune thyroid disorders. These results suggest the need for surveillance for thyroid disorders in patients with celiac disease.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Medicine, General & Internal
Grant Sprow, Joshua Dan, Joseph F. Merola, Victoria P. Werth
Summary: Cutaneous lupus erythematosus (CLE) is an autoimmune disease that can greatly impact patient's quality of life. New therapies are needed to effectively treat CLE. Anifrolumab and belimumab have shown efficacy in treating CLE, while other therapies targeting specific cells and pathways are currently being developed.
FRONTIERS IN MEDICINE
(2022)
Article
Immunology
Yanming Cui, Jianbo Wei, Xiang Peng
Summary: Vaccination in patients with autoimmune diseases is controversial due to the possibility of thrombotic thrombocytopenic purpura. This case report describes a patient with systemic lupus erythematosus who developed thrombotic thrombocytopenic purpura after rabies vaccination. Prompt identification and treatment saved the patient from danger. This highlights the potential unexpected adverse effects of attenuated vaccines in patients on long-term immunosuppressive drugs and with autoimmune diseases.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Kun Xiang, Peng Wang, Zhiwei Xu, Yu-Qian Hu, Yi-Sheng He, Yue Chen, Ya-Ting Feng, Kang-Jia Yin, Ji-Xiang Huang, Jie Wang, Zheng-Dong Wu, Xiao-Ke Yang, De-Guang Wang, Dong-Qing Ye, Hai-Feng Pan
Summary: This study used Mendelian randomization to examine the causal links between gut microbiome components and SLE risk. The results suggest that certain gut microbiome components may have causal effects on the risk of SLE, with some components increasing the risk and others reducing it.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Immunology
Pingping Ren, Luying Lu, Shasha Cai, Jianghua Chen, Weiqiang Lin, Fei Han
Summary: Alternative splicing is a complex regulatory mechanism that affects a large percentage of genes and organs, aberrant splicing can lead to various diseases, though its association with autoimmune diseases requires further examination.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Hai Fang, Julian C. Knight
Summary: This study introduces a comprehensive and unique database 'Priority index' that provides prioritized genes encoding potential therapeutic targets for major immune-mediated diseases. Target genes receive a 5-star rating based on genomic, annotation, and network evidence, highlighting the importance of pathway crosstalk. The database facilitates cross-disease comparisons and aids in early-stage therapeutic target identification and validation leveraging human genetics.
NUCLEIC ACIDS RESEARCH
(2022)
Editorial Material
Medicine, General & Internal
P. Maclean, A. J. Mentzer, T. Lambe, J. Knight
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE
(2022)
Letter
Medicine, General & Internal
P. Maclean, A. J. Mentzer, T. Lambe, J. C. Knight
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE
(2023)
Article
Genetics & Heredity
Carla J. Cohen, Connor Davidson, Carlo Selmi, Paul Bowness, Julian C. Knight, B. Paul Wordsworth, Matteo Vecellio
Summary: Ankylosing Spondylitis (AS) is a complex and highly heritable form of inflammatory spinal arthritis. This study investigated the effect of the rs6600247 genotype on DNA binding and chromosome looping in relation to RUNX3, a gene associated with AS.
FRONTIERS IN GENETICS
(2022)
Article
Multidisciplinary Sciences
Waheed-Ul-Rahman Ahmed, Sam Kleeman, Michael Ng, Wei Wang, Adam Auton, Regent Lee, Ashok Handa, Krina T. Zondervan, Akira Wiberg, Dominic Furniss
Summary: This study describes the largest genome-wide association study of varicose veins, identifying 46 susceptibility loci and 49 signals. The study also maps 237 genes to these loci, providing potential targets for therapeutic interventions. Pathway analysis reveals several biological processes related to varicose veins.
NATURE COMMUNICATIONS
(2022)
Article
Obstetrics & Gynecology
Krina T. Zondervan, Stacey Missmer, Mauricio S. Abrao, Jon Einarsson, Andrew W. Horne, Neil P. Johnson, Ted T. M. Lee, John Petrozza, Carla Tomassetti, Nathalie Vermeulen, Grigoris Grimbizis, Rudy L. de Wilde
Summary: This study examined the current use of endometriosis classification systems in clinical practice and the motivations of clinicians. The findings showed that while existing systems are widely used, most clinicians expressed the need for a new simple surgical descriptive system.
FACTS VIEWS AND VISION IN OBGYN
(2022)
Article
Biochemistry & Molecular Biology
Dapeng Wang, Vinod Kumar, Katie L. Burnham, Alexander J. Mentzer, Brian D. Marsden, Julian C. Knight
Summary: The COvid-19 Multi-omics Blood ATlas (COMBAT) project has developed a database, COMBATdb, for exploring multi-modal datasets related to COVID-19 and other infectious diseases.
NUCLEIC ACIDS RESEARCH
(2023)
Review
Health Care Sciences & Services
Paula Dhiman, Jie Ma, Constanza L. Andaur Navarro, Benjamin Speich, Garrett Bullock, Johanna A. A. Damen, Lotty Hooft, Shona Kirtley, Richard D. Riley, Ben Van Calster, Karel G. M. Moons, Gary S. Collins
Summary: This article conducted a systematic review on oncology-related studies that developed and validated prognostic models using machine learning. The findings revealed the presence of spin, i.e., overinterpretation of findings, in these studies. The inconsistent reporting and use of overly strong or leading words in the publications indicate the need for caution when reading and using prognostic models in oncology.
JOURNAL OF CLINICAL EPIDEMIOLOGY
(2023)
Article
Health Care Sciences & Services
Michael M. Schlussel, Melissa K. Sharp, Jennifer A. de Beyer, Shona Kirtley, Patricia Logullo, Paula Dhiman, Angela MacCarthy, Anna Koroleva, Benjamin Speich, Garrett S. Bullock, David Moher, Gary S. Collins
Summary: This study investigated the developing methods of reporting guidelines in the EQUATOR Network's database. The findings show that the number of reporting guidelines has increased over the past 30 years, and developers should use existing guidance and an evidence-based approach during the development process.
JOURNAL OF CLINICAL EPIDEMIOLOGY
(2023)
Article
Genetics & Heredity
Nilufer Rahmioglu, Sally Mortlock, Marzieh Ghiasi, Peter L. Moller, Lilja Stefansdottir, Genevieve Galarneau, Constance Turman, Rebecca Danning, Matthew H. Law, Yadav Sapkota, Paraskevi Christofidou, Sini Skarp, Ayush Giri, Karina Banasik, Michal Krassowski, Maarja Lepamets, Blazej Marciniak, Margit Noukas, Danielle Perro, Eeva Sliz, Marta Sobalska-Kwapis, Gudmar Thorleifsson, Nura F. Topbas-Selcuki, Allison Vitonis, David Westergaard, Ragnheidur Arnadottir, Kristoffer S. Burgdorf, Archie Campbell, Cecilia S. K. Cheuk, Caterina Clementi, James Cook, Immaculata De Vivo, Amy DiVasta, O. Dorien, Jacqueline F. Donoghue, Todd Edwards, Pierre Fontanillas, Jenny N. Fung, Reynir T. Geirsson, Jane E. Girling, Paivi Harkki, Holly R. Harris, Martin Healey, Oskari Heikinheimo, Sarah Holdsworth-Carson, Isabel C. Hostettler, Henry Houlden, Sahar Houshdaran, Juan C. Irwin, Marjo-Riitta Jarvelin, Yoichiro Kamatani, Stephen H. Kennedy, Ewa Kepka, Johannes Kettunen, Michiaki Kubo, Bartosz Kulig, Venla Kurra, Hannele Laivuori, Marc R. Laufer, Cecilia M. Lindgren, Stuart MacGregor, Massimo Mangino, Nicholas G. Martin, Charoula Matalliotaki, Michail Matalliotakis, Alison D. Murray, Anne Ndungu, Camran Nezhat, Catherine M. Olsen, Jessica Opoku-Anane, Sandosh Padmanabhan, Manish Paranjpe, Maire Peters, Grzegorz Polak, David J. Porteous, Joseph Rabban, Kathyrn M. Rexrode, Hanna Romanowicz, Merli Saare, Liisu Saavalainen, Andrew J. Schork, Sushmita Sen, Amy L. Shafrir, Anna Siewierska-Gorska, Marcin Slomka, Blair H. Smith, Beata Smolarz, Tomasz Szaflik, Krzysztof Szyllo, Atsushi Takahashi, Kathryn L. Terry, Carla Tomassetti, Susan A. Treloar, Arne Vanhie, Katy Vincent, Kim C. Vo, David J. Werring, Eleftheria Zeggini, Maria Zervou, Kari Stefansson, Mette Nyegaard, Outi Uimari, Piraye Yurttas-Beim, Joyce Y. Tung, Sosuke Adachi, Julie E. Buring, Paul M. Ridker, Thomas D'Hooghe, George N. Goulielmos, Dharani K. Hapangama, Caroline Hayward, Andrew W. Horne, Siew-Kee Low, Hannu Martikainen, Daniel Chasman, Peter A. W. Rogers, Philippa T. Saunders, Marina Sirota, Tim Spector, Dominik Strapagiel, David C. Whiteman, Linda C. Giudice, Digna R. Velez-Edwards, Peter Kraft, Andres Salumets, Dale R. Nyholt, Reedik Magi, Christian M. Becker, Valgerdur Steinthorsdottir, Stacey A. Missmer, Grant W. Montgomery, Andrew P. Morris, Krina T. Zondervan
Summary: Endometriosis is a common condition associated with pelvic pain and infertility. A genome-wide association study identified 42 significant loci and found genetic correlations between endometriosis and other pain conditions. Targeted investigations are needed to understand the shared genetic mechanisms and develop new treatments.
Editorial Material
Endocrinology & Metabolism
Luz Garcia-Alonso, Krina T. Zondervan, Roser Vento-Tormo
Summary: A transcriptomic analysis of endometriosis and comparison tissues has provided a rich and complex catalogue of single-cell-based expression data. This resource is crucial for scaling up single cell profiling, advancing research on endometriosis pathogenesis, and exploring novel approaches for diagnosing and treating the disease.
NATURE REVIEWS ENDOCRINOLOGY
(2023)
Article
Multidisciplinary Sciences
Bethan Swift, Bahar M. Taneri, Ilgin T. Cagnan, Christian A. Becker, Krina Zondervan, Maria Quigley, Nilufer Rahmioglu
Summary: This study investigated the prevalence and trends of C-section and breastfeeding in Northern Cyprus. The prevalence of C-section increased significantly over the years, while the prevalence of breastfeeding remained steady. There was no significant association between C-section and breastfeeding.
Article
Multidisciplinary Sciences
Parsa Akbari, Dragana Vuckovic, Luca Stefanucci, Tao Jiang, Kousik Kundu, Roman Kreuzhuber, Erik L. Bao, Janine H. Collins, Kate Downes, Luigi Grassi, Jose A. Guerrero, Stephen Kaptoge, Julian C. Knight, Stuart Meacham, Jennifer Sambrook, Denis Seyres, Oliver Stegle, Jeffrey M. Verboon, Klaudia Walter, Nicholas A. Watkins, John Danesh, David J. Roberts, Emanuele Di Angelantonio, Vijay G. Sankaran, Mattia Frontini, Stephen Burgess, Taco Kuijpers, James E. Peters, Adam S. Butterworth, Willem H. Ouwehand, Nicole Soranzo, William J. Astle
Summary: The authors identify genetic variation associated with properties of the internal biological structures of blood cells and demonstrate how this can contribute to our understanding of the cellular mechanisms causing disease.
NATURE COMMUNICATIONS
(2023)
Article
Biology
Sally Mortlock, Sahar Houshdaran, Idit Kosti, Nilufer Rahmioglu, Camran Nezhat, Allison F. Vitonis, Shan V. Andrews, Parker Grosjean, Manish Paranjpe, Andrew W. Horne, Alison Jacoby, Jeannette Lager, Jessica Opoku-Anane, Kim Chi Vo, Evelina Manvelyan, Sushmita Sen, Zhanna Ghukasyan, Frances Collins, Xavier Santamaria, Philippa Saunders, Kord Kober, Allan F. McRae, Kathryn L. Terry, Julia Vallve-Juanico, Christian Becker, Peter A. W. Rogers, Juan C. Irwin, Krina Zondervan, Grant W. Montgomery, Stacey Missmer, Marina Sirota, Linda Giudice
Summary: A comparison of genetic variation among patients with and without endometriosis reveals differences in DNA methylation profiles associated with stage III/IV endometriosis, sub-phenotypes, and menstrual cycle phase. This study provides functional evidence for epigenetic targets contributing to endometriosis risk and pathogenesis, and serves as a valuable resource for understanding the effects of methylation on endometrial biology in health and disease.
COMMUNICATIONS BIOLOGY
(2023)
Article
Obstetrics & Gynecology
Qian Feng, Ben W. Mol, John P. A. Ioannidis, Wentao Li
Summary: The frequency and temporal trends of reporting P-values and effect measures in the abstracts of reproductive medicine studies from 1990 to 2022 were examined. The prevalence of effect measures has been increasing, especially in meta-analyses and randomized controlled trials (RCTs). The reported P-values were frequently observed around certain cut-off values, and a large majority of abstracts with statistical inference reported at least one statistically significant finding.
HUMAN REPRODUCTION
(2023)