Communications medicine最新文献

{"title":"Perivascular spaces are associated with T cell trafficking and may have prognostic relevance in brain metastases.","authors":"Claudia Maletzki, Eva Michaelis, Sae-Yeon Won, Artem Refaelian, Thomas Freitag, Thomas M Freiman, Julia Onken, David Wasilewski, Peter Vajkoczy, Jawed Nawabi, Nico Noah Martin, Annette Zimpfer, Daniel Cantré, Florian Gessler, Daniel Dubinski","doi":"10.1038/s43856-026-01918-7","DOIUrl":"10.1038/s43856-026-01918-7","url":null,"abstract":"<p><strong>Background: </strong>Perivascular structures, in particular, perivascular spaces (PVS) are emerging key immune modulators in the tumor microenvironment. However, their relationship with immune infiltration, vascular remodeling, and clinical outcomes in brain metastases is unclear.</p><p><strong>Methods: </strong>In this retrospective two-center study, we analyzed 56 brain metastases. Perivascular spaces were graded on preoperatively T2-weighted MRI in the basal ganglia and centrum semiovale. Tumor immune infiltration, vascular features, and immune cell phenotypes were assessed by immunohistochemistry and spectral flow cytometry and correlated with clinical outcome.</p><p><strong>Results: </strong>Here we show that high PVS burden in the centrum semiovale region, but not in the basal ganglia, were significantly associated with improved overall survival. High PVS are linked to increased presence of tumor-infiltrating cytotoxic T cells-most of which exhibited an activated/exhausted phenotype, indicated by PD-1- and Fas-positivity-was likewise prognostically favorable. Moreover, these cells showed elevated expression of the migration marker CXCR3, as well as Granzyme B/IFNγ consistent with effector polarization. High PVS were additionally associated with a higher M1/M2-like macrophage ratio, which showed similar prognostic relevance as high vascular density, suggesting enhanced blood supply and immune cell recruitment.</p><p><strong>Conclusion: </strong>These findings could establish PVS as a non-invasive imaging marker of anti-tumor immunity and prognosis in patients with brain metastasis, underscoring their potential as biomarkers for immune activity and therapeutic monitoring.</p>","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13680621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immune-related gene expression links anxiety, depression, and pain outcomes in adolescence.","authors":"Anh Cong Tuan Le, Tobias Banaschewski, Arun L W Bokde, Rüdiger Brühl, Sylvane Desrivières, Hugh Garavan, Penny Gowland, Antoine Grigis, Andreas Heinz, Jean-Luc Martinot, Marie-Laure Paillère Martinot, Eric Artiges, Dimitri Papadopoulos Orfanos, Luise Poustka, Michael N Smolka, Nathalie Holz, Nilakshi Vaidya, Henrik Walter, Robert Whelan, Paul Wirsching, Gunter Schumann, Herta Flor, Frauke Nees","doi":"10.1038/s43856-026-01960-5","DOIUrl":"10.1038/s43856-026-01960-5","url":null,"abstract":"<p><strong>Background: </strong>Chronic pain and internalising disorders such as anxiety and depression frequently co-occur during adolescence. Although prospective associations between internalising symptoms and later pain have been reported previously, the biological mechanisms underlying individual differences in this relationship remain poorly understood. Immune- and oxidative stress-related pathways, including the NRF2 gene, may contribute to such variability. This study investigated whether polymorphisms in the NRF2 gene (rs6721961 and rs35652124) are related to the association between anxiety and depression symptoms at age 14-15 and pain complaints two years later at age 16-17.</p><p><strong>Methods: </strong>Data were drawn from the IMAGEN longitudinal study (N = 724). Anxiety and depression symptoms were assessed using the Development and Well-Being Assessment (DAWBA), and pain complaints were measured via the Children's Somatization Inventory (CSI). Genotyping was conducted for NRF2 SNPs rs6721961 and rs35652124. Regression analyses tested main effects, followed by genotype-stratified analyses.</p><p><strong>Results: </strong>Consistent with previous literature, higher levels of anxiety and depression at age 14-15 predicted increased pain complaints at age 16-17. Carriers of the TG/TT genotype of rs6721961 had significantly lower anxiety scores and reported fewer pain complaints compared to those carrying the GG genotype of rs6721961. Notably, the association between anxiety and later pain was significant only among individuals with the GG genotype.</p><p><strong>Conclusion: </strong>While replicating established associations between adolescent early internalising symptoms and later pain, this study suggests that genetic variation in NRF2 is related to the anxiety-pain association. Specifically, rs6721961 is associated with differences in susceptibility to pain among adolescents with elevated anxiety symptoms.</p>","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149208398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global inequities and fragmentation in guidelines for endometriosis: a scoping review.","authors":"Dereje G Gete, Devon Evans, Jason Abbott, Leticia W Ribeiro, Krina T Zondervan, Linda C Giudice, Luk Rombauts, Mathew Leonardi, Hemantha Senanayake, G David Adamson, Elsie Wandera, Femke Jansen, Sally Motlock, Angela G Sison-Aguilar, Sawsan As-Sanie, Idhaliz Flores, Kaori Koga, Marina Kvaskoff, Jacques Wm Maas, Ezekiel Onyonka Mecha, Engin Oral, Adrienn Salamon, Ertan Saridogan, Paul J Yong, Neil P Johnson, Stacey A Missmer, Andrew Horne, Manjulaa Narasimhan, Gita D Mishra","doi":"10.1038/s43856-026-01907-w","DOIUrl":"10.1038/s43856-026-01907-w","url":null,"abstract":"<p><strong>Background: </strong>Despite the availability of endometriosis care guidelines from multiple governmental and professional organisations, their global applicability and recommendations have been insufficiently examined. This scoping review examines endometriosis guidelines worldwide, evaluating their availability, target audiences and populations, methodologies, and clinical recommendations, building on a previous review of region-specific endometriosis care guidance.</p><p><strong>Methods: </strong>We searched PubMed, EMBASE, and Scopus from inception through October 2025 without language, publication date, or geographic location restrictions. Additional grey literature searches were conducted through March 2026. Eligible guidelines addressed individuals with suspected or confirmed endometriosis of any age, including adolescent-specific guidance and recommendations incorporating adenomyosis.</p><p><strong>Results: </strong>A total of 47 guidelines were included, comprising 28 English-language and 19 non-English-language guidelines from multiple regions. The findings reveal marked regional inequities: most guidelines originate from high-income settings, particularly in Europe (15/47, 32%), with substantial gaps in Africa (2%) and the Eastern Mediterranean (4%). Variation in inclusivity and methodological rigour was observed, including underrepresentation of adolescents (77%), individuals with lived experience (30%), and gender-diverse people (19%), as well as inconsistent approaches to grading evidence. There was also limited consideration of primary care physicians (49%), who play a key role in early diagnosis and management. Gaps in alignment across guidelines on key diagnostic and therapeutic pathways include recommendations on histological confirmation, biomarker use, aromatase inhibitors, repeat surgery, fertility care, non-medical interventions, and self-care interventions.</p><p><strong>Conclusions: </strong>These findings highlight the need for a global normative guideline, greater standardisation in guideline development methods, context-specific guidance that incorporates the needs and rights of end-users, and coordinated efforts to strengthen equitable, evidence-based care.</p>","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13669371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149186666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Connectomic signatures advance the understandings of transdiagnostic heterogeneity in psychosis.","authors":"Yu Du, Jingjing Zhang, Ting Ma, Chenfei Ye","doi":"10.1038/s43856-026-01967-y","DOIUrl":"https://doi.org/10.1038/s43856-026-01967-y","url":null,"abstract":"<p><p>Current consensus-driven diagnostic systems poorly capture the marked heterogeneity and high comorbidity of psychiatric disorders, necessitating brain-based transdiagnostic frameworks to advance mechanistic understanding and clinical translation. Connectome-wide association studies have consistently identified widespread large-scale dysconnectivity across diagnostic boundaries, yet normative modeling and meta-analytic evidence highlights substantial inter-individual variability in the spatial topography and magnitude of connectomic deviations. In this Perspective, we bridge this divide between cross-disorder commonalities and individualized pathology by integrating connectomic overlap and computational biotyping into a top-down, four-tiered hierarchical architecture. This framework progresses from macro-scale transdiagnostic topological scaffolds, through meso-scale phenotypic triangulation, to data-driven biotypes and micro-scale clinical translations, delineating bidirectional interplay between shared network constraints and heterogeneous pathological diversification. Building on this architecture, we outline strategies leveraging multi-cohort data harmonization and healthy-anchored normative biotyping to refine robust cross-disorder circuits and reproducible neurobiotypes. Lastly, we propose a translational roadmap to transition connectomic stratification toward prospective, treatment-relevant clinical validation in precision psychiatry.</p>","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13653919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149169041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introduction to using symbolic regression for interpretable machine learning in healthcare.","authors":"Michael Ferguson, Feifan Liu, Honghuang Lin, David D McManus, Ben S Gerber","doi":"10.1038/s43856-026-01914-x","DOIUrl":"10.1038/s43856-026-01914-x","url":null,"abstract":"<p><p>The past decade has seen machine learning play an increasingly important role in medicine. However, many of the state-of-the-art models being developed and deployed suffer from a lack of transparency, limiting integration into the clinical decision-making process and raising concerns about patient safety. Here we call attention to symbolic regression, a largely overlooked machine learning technique that aims to be both accurate and interpretable by learning readable mathematical models from data. In recent years, it has undergone rapid advancements with successful application to problems across a wide range of disciplines. In this perspective, we provide an approachable introduction to symbolic regression, highlight its strengths and limitations, and explore its potential applications in medicine.</p>","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13652824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the translational value of animal models in developing pain-targeting therapies for clinical osteoarthritis.","authors":"Alexandra Stubelius, Cecilia Aulin, Carla Cunha, Luminita Labusca, Christos Kontogiorgis, Gina Lisignoli, Ali Mobasheri, Rosa Maria Nothnagel, Sylvia Nürnberger, Jaqueline Lourdes Rios, Nico Sollmann, Martijn Van den Bosch, Lucienne Vonk, Carmen Corciulo","doi":"10.1038/s43856-026-01926-7","DOIUrl":"10.1038/s43856-026-01926-7","url":null,"abstract":"<p><p>Osteoarthritis (OA) is a highly prevalent and disabling disease, with pain as its most debilitating symptom. Despite extensive preclinical research, no therapy has successfully translated from animal models into routine clinical use. Commonly used animal models (e.g., acute, surgically, or chemically induced OA in young, single-sex animals) often fail to reflect the chronic and multifactorial human condition, which is often seen in older, postmenopausal women with comorbidities and mixed nociceptive-neuropathic pain. This review aims to identify animal models and pain assessment methods for predicting drug efficacy in OA pain management and to examine the translational gap, focusing on pain as a primary endpoint in animal and human clinical studies. Ultimately, we emphasize the need for phenotype-specific, clinically relevant models to improve translational validity and accelerate the development of effective OA pain therapies.</p>","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13649651/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149139629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.","authors":"Sarfaraz K Niazi","doi":"10.1038/s43856-026-01962-3","DOIUrl":"https://doi.org/10.1038/s43856-026-01962-3","url":null,"abstract":"<p><p>Rare diseases affect hundreds of millions of individuals worldwide, primarily resulting from genetic factors, with many presenting during childhood. Advances in genome sequencing increasingly enable identification of the responsible gene in more patients; however, only a limited selection of therapies exists to correct or mitigate the underlying genetic defect. This overview delineates the interconnected aspects of diagnosis, evidence generation, treatment, and long-term safety monitoring within an integrated framework. It also posits that the molecular mechanism underlying a disorder, rather than its clinical label, determines both the diagnostic test to be employed and the potential treatment options that may be effective.</p>","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13633241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149119341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patients' experience with medical communication about medically unexplained symptoms.","authors":"Elise Rambaud, Viet-Thi Tran, Tiphaine Lenfant, Brigitte Ranque","doi":"10.1038/s43856-026-01852-8","DOIUrl":"https://doi.org/10.1038/s43856-026-01852-8","url":null,"abstract":"<p><strong>Background: </strong>How physicians communicate explanations about Medically Unexplained Symptoms and how patients experience this communication remains insufficiently studied. We aimed to explore patients' experiences with medical communication about medically unexplained symptoms.</p><p><strong>Methods: </strong>We conducted a national cross-sectional survey among adult patients recruited through the french ComPaRe e-cohort. Patients with chronic unexplained symptoms completed a questionnaire assessing symptoms characteristics, diagnoses received and experiences of medical communication. Open-ended narratives were analyzed using inductive thematic analysis. Quantitative data were weighted to represent the national population.</p><p><strong>Results: </strong>Here we show that the primary determinant of patient experience is not the diagnostic label itself, but rather the way physicians communicate and recognize patient suffering. Among 2,673 respondents with persistent symptoms, 1,868 report experiencing unexplained conditions. Three main types of explanations are identified: explicit diagnoses (80.5%), explanations denying the disease (\"It's in your head\") (65.8%), or an acknowledgment of physician's uncertainty (\"I don't know\"). Explanations denying the disease are poorly received, with nearly all associated comments expressing negative reactions like shame or guilt. In contrast, explicit diagnoses are better accepted. Functional disorder labels frequently trigger positive experiences when framed within an explanatory model, whereas explicit disease labels are often accompanied by frustration regarding therapeutic options.</p><p><strong>Conclusions: </strong>Medical communication plays a central role in shaping patient experience. Explanations denying the presence of a disease are poorly accepted by patients and should be avoided. Explicit diagnoses, including functional disorders, are well received when framed within explanatory models offering targeted therapeutic options.</p>","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13631328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149119319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term clinical and biomarker observations following rituximab exposure in two siblings with CSF1R-related leukoencephalopathy: a preliminary familial case series.","authors":"Ramojus Balevicius, Lidija Marija Smertinaite, Mourad Kourie, Zbigniew Wszolek, Goda-Camile Mickeviciute, Robert Harris, Tobias Granberg, Nadezda Zhuravleva, Jinming Han, Virginija Danylaite Karrenbauer","doi":"10.1038/s43856-026-01936-5","DOIUrl":"https://doi.org/10.1038/s43856-026-01936-5","url":null,"abstract":"<p><strong>Background: </strong>Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy (CRL) is a rare microgliopathy, characterized by progressive neurodegeneration. Impaired STAT3 signaling reduces microglial numbers and limits their ability to clear cellular debris, leading to persistent inflammation and brain tissue damage that activates peripheral CD20⁺ B cells. These cells migrate into the CNS and secrete interleukin-6 (IL-6), amplifying inflammation and further disrupting STAT3 signaling in a self-reinforcing cycle that drives white-matter injury.</p><p><strong>Methods: </strong>We describe two siblings from a single family, both carrying the same heterozygous CSF1R variant (c.2562 T > A, p.Asn854Lys), who received four infusions of rituximab (RTX;500 mg) on a compassionate, off-label basis between 2014-2017. The long-term disease trajectory was evaluated using standardized clinical rating scales and brain magnetic resonance imaging (MRI). As a secondary biomarker outcome, serum and CSF neurofilament light chain (NfL) concentrations were assessed.</p><p><strong>Results: </strong>In both siblings, RTX exposure was followed by EDSS stability at 6.5 and 7.0, respectively, over 5 years, with mixed trajectories in other functional and cognitive domains. Over the 23-year MRI follow-up period, patients developed cerebral atrophy. During the post-treatment period, no new focal lesions were observed on brain MRI, and levels of CSF-NfL and CSF-CXCL13 were normalized.</p><p><strong>Conclusions: </strong>In this preliminary familial case series of two siblings carrying the same CSF1R variant, RTX exposure was followed by long-term clinical stability and favorable biomarker trajectories. Patient 1 had a pre-treatment disease course of approximately 13 years, indicating an inherently slow disease progression that cannot be entirely separated from the treatment effect in an uncontrolled observation.</p>","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13633238/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149119324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimal duration of anticoagulation after successful catheter ablation for atrial fibrillation: insights from recent randomized trials.","authors":"Mingjie Lin, Bing Rong, Jingquan Zhong, Kai Zhang","doi":"10.1038/s43856-026-01944-5","DOIUrl":"10.1038/s43856-026-01944-5","url":null,"abstract":"","PeriodicalId":72646,"journal":{"name":"Communications medicine","volume":"6 1","pages":""},"PeriodicalIF":7.4,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13623824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149082899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}