tbuckley/cabot-search huggingface dataset:
Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Authors: Elodie Bal, Hyun-Sook Park, Zakia Belaid-Choucair, Hülya Kayserili, Magali Naville, Marine Madrange, Elena Chiticariu, Smail Hadj-Rabia, Nicolas Cagnard, Francois Kuonen, Daniel Bachmann, Marcel Huber, Cindy Le Gall, Francine Côté, Sylvain Hanein, Rasim Özgür Rosti, Ayca Dilruba Aslanger, Quinten Waisfisz, Christine Bodemer, Olivier Hermine, Fanny Morice-Picard, Bruno Labeille, Frédéric Caux, Juliette Mazereeuw-Hautier, Nicole Philip, Nicolas Levy, Alain Taieb, Marie-Françoise Avril, Denis J Headon, Gabor Gyapay, Thierry Magnaldo, Sylvie Fraitag, Hugues Roest Crollius, Pierre Vabres, Daniel Hohl, Arnold Munnich, Asma Smahi
Journal: Nature Medicine (2025)
Histology of subepithelial lesions (SELs) in the gastrointestinal tract-resected endoscopic: a database study of 4901 patients
Authors: Zhipeng Qi, Enpan Xu, Shuchang Xu, Leiming Xu, XiaoBo Li, Liang Zhong, Dongli He, Pinghong Zhou, Zhendong Jin, Yunshi Zhong
Journal: Gut (2025)
ZDHHC18 promotes renal fibrosis development by regulating HRAS palmitoylation
Authors: Di Lu, Gulibositan Aji, Guanyu Li, yue li, Wenlin Fang, Shuai Zhang, ruiqi yu, Sheng Jiang, xia gao, Yuhang Jiang, Qi Wang
Journal: Journal of Clinical Investigation (2025)

Fibrosis is the final common pathway leading to end stage chronic kidney disease (CKD). However, the function of protein palmitoylation in renal fibrosis and underlying mechanisms remain unclear. In this study, we observed that the expression of the palmitoyltransferase ZDHHC18 was significantly elevated in unilateral ureteral obstruction (UUO) and folic acid (FA)-induced renal fibrosis mouse models, and was significantly upregulated in the fibrotic kidneys of chronic kidney disease patients. Functionally, tubule-specific deletion of ZDHHC18 attenuated tubular epithelial cells partial epithelial-to-mesenchymal transition (EMT), then reduced production of profibrotic cytokine and alleviates tubulointerstitial fibrosis. In contrast, ZDHHC18 overexpression exacerbated progressive renal fibrosis. Mechanistically, ZDHHC18 catalyzed the palmitoylation of HRAS, which is pivotal for its translocation to the plasma membrane and subsequent activation. HRAS palmitoylation promoted downstream phosphorylation of MEK/ERK and further activated RREB1, enhancing SMAD binding to the Snai1 cis-regulatory regions. Taken together, our findings suggest that ZDHHC18 plays a crucial role in renal fibrogenesis and presents a potential therapeutic target for combating kidney fibrosis.
Ongoing suppression prevents relapse in streptococcal periprosthetic joint infection: a prospective long-term cohort study
Authors: Virginia Dos Santos, Sebastian Meller, Carsten Perka, Andrej Trampuz, Nora Renz
Journal: Journal of Infection (2025)

Antimicrobial suppression improves short-term outcome of streptococcal periprosthetic joint infection (PJI) compared to standard treatment. This study assesses the long-term effectiveness of suppression. This prospective study included consecutive patients with streptococcal PJI. Infection-free survival was analyzed using the Kaplan-Meier method and compared between patients receiving standard therapy (12 weeks) and those with suppression therapy (>6 months) with the log-rank test. A total of 63 PJI episodes were analyzed. Standard treatment was administered to 33 patients, while 30 patients received suppression therapy (10 had ongoing and 20 had discontinued suppression at time of follow-up). Predominant pathogens included Streptococcus agalactiae (n=20) and Streptococcus dysgalactiae (n=18). The main surgical procedures used were two-stage exchange (n=35) and prosthesis retention (n=21). At 7.5 years, infection-free survival was significantly higher in the suppression group (62%) compared to the standard therapy group (38%) (p=0.038). Streptococci accounted for 14 of 27 failures (52%). Suppression effectively prevented streptococcal infection during treatment; however, relapses or new streptococcal infections occurred in 5 of 20 patients (25%) after discontinuation. Failures during ongoing suppression were exclusively caused by gram-negative rods. Suppression therapy significantly improves long-term outcome in streptococcal PJI. While suppression effectively prevents streptococcal reinfections during treatment, the risk of recurrence reemerges after discontinuation.
The state-of-the-art in cardiac MRI reconstruction: Results of the CMRxRecon challenge in MICCAI 2023
Authors: Jun Lyu, Chen Qin, Shuo Wang, Fanwen Wang, Yan Li, Zi Wang, Kunyuan Guo, Cheng Ouyang, Michael Tänzer, Meng Liu, Longyu Sun, Mengting Sun, Qing Li, Zhang Shi, Sha Hua, Hao Li, Zhensen Chen, Zhenlin Zhang, Bingyu Xin, Dimitris N Metaxas, George Yiasemis, Jonas Teuwen, Liping Zhang, Weitian Chen, Yidong Zhao, Qian Tao, Yanwei Pang, Xiaohan Liu, Artem Razumov, Dmitry V Dylov, Quan Dou, Kang Yan, Yuyang Xue, Yuning Du, Julia Dietlmeier, Carles Garcia-Cabrera, Ziad Al-Haj Hemidi, Nora Vogt, Ziqiang Xu, Yajing Zhang, Ying-Hua Chu, Weibo Chen, Wenjia Bai, Xiahai Zhuang, Jing Qin, Lianming Wu, Guang Yang, Xiaobo Qu, He Wang, Chengyan Wang
Journal: Medical Image Analysis (2025)
Development and validation of a novel mortality risk stratification simplified scoring scale for severe fever with thrombocytopenia syndrome
Authors: Tao Chen, Meng Zhang, Qian Liu, Wensi Li, Zhilin Zeng, Chuanwen Chen, Yi Zhou, Tiantong Zhou, Yaping Li, Wei Wang, Quan Ming, Jun Zhu, Zhaohai Zeng, Feng Zhu, Weiming Yan, Peng Wang, Yuxin Niu, Yunhui Liu, Lanyue Huang, Wei Liu, Qiuyu Cheng, Yuzhao Feng, Tingting Liu, Xiaojing Wang, Guang Chen, Di Wu, Qin Ning
Journal: Clinical Microbiology and Infection (2025)
Anti-nephrin autoantibodies in steroid-resistant nephrotic syndrome may inform treatment strategy
Authors: Felicitas E Hengel, Silke Dehde, Alev Yilmaz, Aysun K Bayazit, Fatih Ozaltin, Dusan Paripovic, Francesco Emma, Pierre Ronco, Marina Vivarelli, Julien Hogan, Franz Schaefer, Nicola M Tomas, Tobias B Huber
Journal: Kidney International (2025)

Autoantibodies against the podocyte protein nephrin were recently identified in a pediatric cohort primarily comprising steroid-sensitive (SSNS) and steroid-dependent (SDNS) nephrotic syndrome (NS). However, their prevalence across all NS subtypes, particularly in steroid-resistant nephrotic syndrome (SRNS), and their relation to therapy response remain need to be determined to advance pathophysiological understanding and refine treatment strategies. A multicenter cohort study measuring anti-nephrin autoantibodies in samples from children with SSNS, SDNS, non-genetic and genetic SRNS was conducted. Sixty nine of 101 (68%) patients with SSNS, 19 of 67 (28%) patients with SDNS, 14 of 103 patients (14%) with non-genetic SRNS and one of 62 patients (2%) with genetic SRNS were positive for anti-nephrin autoantibodies. The prevalence of anti-nephrin autoantibodies increased with presence of active disease in cases of SSNS and SDNS. Within the group of non-genetic SRNS patients with active disease, anti-nephrin positivity was found in 13 of 74 (18%) patients responding to intensified immunosuppression compared to none of 17 patients with multidrug-resistant SRNS. The prevalence of anti-nephrin antibodies is substantially higher in children with steroid responsive NS than in those with SRNS, suggesting that anti-nephrin antibodies primarily drive SSNS/SDNS. In contrast, NS due to podocyte gene mutations is primarily genotype-caused. Anti-nephrin autoantibodies may serve as a positive prognostic marker in pediatric NS, indicating a favorable response to immunosuppressive therapy.
Toward a Cohort Perspective of Climate Epidemiology: The Case of Examining Intergenerational Inequalities in Susceptibility to Non-Optimal Temperatures in Japan
Authors: Lei Yuan, Yasushi Honda, Lina Madaniyazi, Aurelio Tobias, Chris Fook Sheng Ng, Masahiro Hashizume
Journal: Environmental Health Perspectives (2025)

Younger generations are projected to experience more severe climate exposure impacts during their lifetimes than older generations as global warming progresses. Despite the increasing evidence of the recent temporal changes in heat-related mortality risks, there remains a lack of research exploring this association from a cohort perspective. Our objective was to quantify the variation in susceptibility to short-term effects of non-optimal temperature on mortality, across generations and over the life course of specific generations, using a novel age-period-cohort approach. An extended two-stage analytical approach was applied to a nationwide mortality dataset covering individuals born from 1866 to 2019 in all 47 prefectures in Japan. Daily mortality counts observed between 1972 and 2019 were aggregated into 5-year birth cohorts and corresponding age groups of the decedents. For each prefecture and birth cohort, the age-dependent association between ambient temperature and daily mortality was modeled using conditional quasi-Poisson regression. Then, the prefecture-specific associations were pooled across cohorts, separately for each age group, using a repeated-measure meta-regression. To model the intergenerational changes in risks, a nonlinear, continuous term for cohort was applied in the meta-analysis. A total of 29 million all-cause deaths were analyzed. The relative risk (RR) of heat-related mortality (99th temperature percentile compared to minimum mortality temperature) decreased across generations for elder adults (65-89 years of age), from RR=1.18 [95% confidence interval (CI): 1.13, 1.23] for those born in 1901-1905 to RR=1.04 (95% CI: 1.01, 1.07) for those born in 1926-1930 (p-trend=0.004). Similar to heat-related risk, the cold-related mortality risk (at first percentile) also decreased across the same cohorts (p-trend<0.001). The predicted continuous trends in heat- and cold-related mortality risks exhibited a nonlinear decline across generations. An inconsistent pattern was observed for middle-aged people (40-64 years of age) born between 1930 and 1960, with a slight increase in risks for cold and heat over generations. For cohort-specific risk trajectories, heat- and cold-related mortality risks generally increased with age, after 60 years old. This nationwide, individual-level study adopted a novel cohort perspective to investigate how population susceptibility to short-term non-optimal temperature exposure varies across generations. Our findings revealed disparities in susceptibility between generations, highlighting the importance for researchers and policymakers to consider cohort differences in efforts to promote future health advancements and reduce inequalities. https://doi.org/10.1289/EHP15226.
Lung cancer screening in people who have never smoked: lessons from East Asia
Authors: H Gilbert Welch, Wayne Gao, Fatima G Wilder, So Yeon Kim, Gerard A Silvestri
Journal: BMJ (2025)

<b>Wayne Gao and colleagues</b> argue that high detection rates and high survival rates in never smokers are less likely to be evidence of screening benefit and more likely to be evidence of its harm—overdiagnosis
Adrenal aldosterone synthase (CYP11B2) histopathology and its association with disease-induced sudden death: a cross-sectional study
Authors: Antero Ylänen, Juhani Isojärvi, Antti Virtanen, Helena Leijon, Tiina Vesterinen, Aapo L Aro, Heini Huhtala, Eeva Kokko, Ilkka Pörsti, Marianna Viukari, Pasi I Nevalainen, Niina Matikainen
Journal: The Lancet Regional Health - Europe (2025)
Targeting Caseinolytic Mitochondrial Matrix Peptidase, a Novel Contributor to High-risk Behavior, in Multiple Myeloma
Authors: Li Qin, Luz Yurany Moreno Rueda, Upasana Ray, Iqbal Mahmud, Lin Tan, Philip L Lorenzi, Suyu Liu, Heather Yan Lin, David E. Mery, Fenghuang Zhan, John D. Shaughnessy, Qing Yi, Maria Jose Acevedo Calado, Hua Wang, Elisabet E. Manasanch, Hans C. Lee, Krina K. Patel, Isere Kuiatse, David E. Symer, Robert Z. Orlowski
Journal: Blood (2025)
PSTK inhibition activates cGAS-STING, precipitating ferroptotic cell death in leukemic stem cells
Authors: Lingli He, Ting Zhao, Wei Zhong Leong, Azeem Sharda, Christina Mayerhofer, Shenglin Mei, Gracia M. Bonilla, Juan Bautista Menendez-Gonzalez, Karin Gustafsson, Tsuyoshi Fukushima, Trine A. Kristiansen, Ji-Won Lee, Yanxin Xu, Lei Chen, Jun Xia, Luis Angel Orozco, Bogdan Budnik, Ruslan Sadreyev, Zhixun Dou, David B. Sykes, David T Scadden
Journal: Blood (2025)
Motivations and expectations for feminizing genital gender-affirming surgery: a qualitative exploration of perspectives from trans feminine individuals and health care professionals
Authors: S.E. Mokken, M.G. Mullender, I.M.C Fritschy, M. Özer, M.B. Bouman, K. M. Veen, T.C. van de Grift
Journal: International Journal of Transgender Health (2025)
Reply to Jason Koehler and Abhinav Sidana’s Letter to the Editor re: Guillaume Ploussard, Patrick Coloby, Thierry Chevallier, et al. Whole-gland or Subtotal High-intensity Focused Ultrasound Versus Radical Prostatectomy: The Prospective, Noninferiority, Nonrandomized HIFI Trial. Eur Urol. In press. https://doi.org/10.1016/j.eururo.2024.11.006
Authors: Pascal Rischmann, Bob-Valéry Occéan, Guillaume Ploussard
Journal: European Urology (2025)
Aerosol transmission risk of mpox relative to COVID-19 and smallpox
Authors: Fong Yew Leong, Zhengwei Ge, Liang Hui Loo, Siew-Wai Fong, Yun Shan Goh, George Xu, Chang Wei Kang, Judith Chui Ching Wong, Hongying Li, Chin Chun Ooi, Matthew Zirui Tay
Journal: The Lancet Microbe (2025)
Somatic gain-of-function mutation in TLR7 causes early-onset systemic lupus erythematosus
Authors: Yi Zeng, Panfeng Tao, Jun Wang, Ting Li, Yue Du, Xiuli Wang, Wei Wang, Siming Peng, Wei Wang, Mingsheng Ma, Hongmei Song, Xiaomin Yu, Qing Zhou
Journal: Annals of the Rheumatic Diseases (2025)

We identified a case of early-onset systemic lupus erythematosus (SLE) characterised by acute immune thrombocytopenia, recurrent fever, pneumonia, myocardial damage, thyroid dysfunction, lymphadenopathy, hepatosplenomegaly, and intracranial calcification. Our objective was to investigate the genetic and molecular mechanisms underlying the disease. Whole exome sequencing and targeted sequencing were performed and a somatic mutation in TLR7 was identified. RNA sequencing, quantitative polymerase chain reaction (qPCR), intracellular cytokine staining, and phospho-flow cytometry were performed to characterise inflammatory signatures. In addition, nuclear factor κB dual-luciferase reporter assays, qPCR, and RNA pull-down assays were performed to assess the functional impact of the TLR7 mutation on immune signalling. We identified a novel somatic TLR7 mutation (p.Phe506Ser) that is likely to arise during early embryonic development. This mutation led to transcriptional upregulation of proinflammatory cytokines and interferon-stimulated genes, such as TNF and IFI27, with significant increases in intracellular cytokine expression, including TNF, following stimulation with the ligand single-stranded RNA (ssRNA) and the agonist R848 in the patient's peripheral blood mononuclear cells (PBMCs). In addition, functional analysis in HEK293T cells demonstrated that the mutant TLR7 exhibited increased binding affinity for ssRNA and enhanced responsiveness to agonists, resulting in hyperactivation of TLR7-mediated signalling. We report the first case of early-onset SLE caused by a somatic TLR7 gain-of-function mutation. Our findings demonstrate that the TLR7 F506S mutation drives excessive proinflammatory signalling in the patient's PBMCs, contributing to disease pathogenesis.
<i>Notes from the Field:</i> Serum Concentrations of Perfluoroalkyl and Polyfluoroalkyl Substances Among First Responders to the Maui Wildfires — Hawaii, September 2023
Authors: Catherine C. Beaucham, Rachel Zeiler, Kenneth Fent, Sophia K. Chiu, Nicholas Somerville, Alexander Mayer, Jessica L. Rinsky, Cheryl Estill
Journal: MMWR Morbidity and Mortality Weekly Report (2025)
Risk of developing psoriatic arthritis in patients with psoriasis initiating treatment with different classes of biologics
Authors: Paolo Gisondi, Francesco Bellinato, Carlotta Galeone, Federica Turati, Luca Idolazzi, Alen Zabotti, Dennis McGonagle, Giampiero Girolomoni
Journal: Annals of the Rheumatic Diseases (2025)

To investigate the risk of psoriatic arthritis (PsA) in plaque psoriasis (PsO) patients receiving different classes of biologics. A retrospective observational study involving consecutive bionaïve PsO patients starting biologic treatment was performed. We compared the occurrence of PsA by the class of the biologic (tumour necrosis factor [TNF], interleukin [IL]-17, or IL-23 inhibitors) using inverse probability of treatment weighting (IPTW) in the setting of multiple treatments to balance pretreatment covariates across cohorts and thus adjust for potential confounders. An IPTW Cox regression model was used to estimate hazard ratios (HRs) of PsA for IL-17 and IL-23 inhibitors versus TNF inhibitors. In total, 622 patients, 430 (62.4%) males, mean ± SD age 46.9 ± 12.9 years, were included. They have been treated with TNF (n = 317, 50.9%), IL-17 (n = 164, 26.4%) or IL-23 inhibitors (n = 141, 22.7%) and followed for 2510 person-years (a mean of 4.1 ± 2.1 years per person). TNF, IL-17, and IL-23 inhibitor cohorts had a total of 1569, 486, and 455 person-years of follow-up. A total of 60 (10%) out of 622 patients on biologic therapy developed incident PsA during the observation period: 45 (14.2%) in the TNF, 9 (5.5%) in the IL-17, and 6 (4.3%) in the IL-23 inhibitor cohorts. After IPTW, the 3 treatment cohorts were well-balanced, and the HRs of PsA were 0.63 (95% CI, 0.38-1.05) for IL-17 and 0.57 (95% CI, 0.34-0.96) for IL-23 compared with the TNF treatment group. The risk of developing PsA appeared slightly different in patients receiving diverse classes of biologics.
Multiomic profiling of checkpoint inhibitor-treated melanoma: Identifying predictors of response and resistance, and markers of biological discordance
Authors: Felicity Newell, Ines Pires da Silva, Peter A. Johansson, Alexander M. Menzies, James S. Wilmott, Venkateswar Addala, Matteo S. Carlino, Helen Rizos, Katia Nones, Jarem J. Edwards, Vanessa Lakis, Stephen H. Kazakoff, Pamela Mukhopadhyay, Peter M. Ferguson, Conrad Leonard, Lambros T. Koufariotis, Scott Wood, Christian U. Blank, John F. Thompson, Andrew J. Spillane, Robyn P.M. Saw, Kerwin F. Shannon, John V. Pearson, Graham J. Mann, Nicholas K. Hayward, Richard A. Scolyer, Nicola Waddell, Georgina V. Long
Journal: Cancer Cell (2025)
A step closer to the holy grail? The utility of extracorporeal photopheresis in lung transplantation
Authors: Jens Gottlieb, Reece Jefferies
Journal: European Respiratory Journal (2025)

<title>Extract</title> The holy grail of solid organ transplantation is the ability to prevent damaging alloreactivity, without impairing host immunity against infection and malignancy. Current triple-drug immunosuppressive regimens for lung transplantation result in high rates of infection, malignancy, renal failure and metabolic disease [1–3]. Under tacrolimus-based regimens, almost half of all lung transplant (LTx) recipients will develop biopsy-proven acute cellular rejection (ACR) (≥A2 and/or B2R) during the first 3 years, with most detected during the first 12 months [4]. Chronic lung allograft dysfunction (CLAD) remains the leading cause of death beyond the first year and occurs in 4.6% of patients annually with tacrolimus-based immunosuppression [4].
Hijacking of the nervous system in cancer: mechanism and therapeutic targets
Authors: Yu Zhang, Qili Liao, Xuyang Wen, Jiayan Fan, Tifei Yuan, Xuemei Tong, Renbing Jia, Peiwei Chai, Xianqun Fan
Journal: Molecular Cancer (2025)

The activity of neurons in the vicinity of tumors is linked to a spectrum of cellular mechanisms, including the facilitation of tumor cell proliferation, synapse formation, angiogenesis, and macrophage polarization. This review consolidates the current understanding of neuro-oncological regulation, underscoring the nuanced interplay between neurological and oncological processes (termed as Cancer-Neuroscience). First, we elucidated how the nervous system accelerates tumor growth, metastasis, and the tumor microenvironment both directly and indirectly through the action of signaling molecules. Importantly, neural activity is also implicated in modulating the efficacy of therapeutic interventions, including immunotherapy. On the contrary, the nervous system potentially has a suppressive effect on tumorigenesis, further underscoring a dual-edged role of neurons in cancer progression. Consequently, targeting specific signaling molecules within neuro-oncological regulatory pathways could potentially suppress tumor development. Future research is poised to explore the intricate mechanisms governing neuro-tumor interactions more deeply, while concurrently refining treatment strategies for tumors by targeting the crosstalk between cancer and neurons.
Drug-induced lung disease: unwanted collateral damage
Authors: Yet H Khor, Martin Kolb
Journal: European Respiratory Journal (2025)

<title>Extract</title> The term "drug", originated from the French word "drogue", refers to any substance or product that is used or intended to be used to modify or explore physiological systems or pathological states for the benefit of the recipient [1]. Since the start of the contemporary medicine era in the 19th century, there has been acceleration in drug discovery with over 800 new agents being approved by the US Food and Drug Administration over the past two decades [2, 3]. While drugs are fundamental for advancing health outcomes, they each are a double-edged sword that carries risks of unwanted side-effects. Of these, pulmonary toxicity in the form of drug-induced lung disease is among the most important, with potential detrimental impacts on health and even fatal sequelae.
Reply: A recommendation for increased airflow to relieve breathlessness: evidence in context is a strength of the GRADE approach
Authors: Anne E Holland, Claudia Bausewein, Natasha Smallwood, Magnus Ekström
Journal: European Respiratory Journal (2025)

<title>Extract</title> We thank T. Luckett and co-workers for their enthusiasm regarding the new European Respiratory Society (ERS) clinical practice guideline on symptom management for adults with serious respiratory illness [1] and their interest in the application of increased airflow to reduce breathlessness. The new ERS guideline makes a weak recommendation in favour of applying increased airflow to reduce breathlessness, based on studies that predominantly used a hand-held fan to apply airflow to the face in people with COPD or interstitial lung disease (ILD).
Tracing the origins of fibrotic fibroblasts: does the name matter? Look at the genes!
Authors: Arnaud A Mailleux, Aurélien Justet
Journal: European Respiratory Journal (2025)

<title>Extract</title> Organ fibrosis is a major contributor to global mortality, with projections suggesting that by 2030, 45% of deaths will be linked to fibrotic diseases [1]. Fibrosis is essentially a pathological scarring process, characterised by an excessive buildup of extracellular matrix (ECM) components that distorts the structure and function of affected organs. No matter the initial cause of injury or the organ affected, fibrosis develops through the secretion of ECM proteins by pathological myofibroblasts, which can be characterised by the expression of several markers, such as ACTA2, FAP, POSTN or CTHRC1, and by an increased expression of ECM proteins [2].
Microglial reprogramming enhances antitumor immunity and immunotherapy response in melanoma brain metastases
Authors: Francisco Javier Rodriguez-Baena, Angel Marquez-Galera, Pablo Ballesteros-Martinez, Alba Castillo, Eva Diaz, Gema Moreno-Bueno, Jose P Lopez-Atalaya, Berta Sanchez-Laorden
Journal: Cancer Cell (2025)