其他最新文献

{"title":"Pretransplant immune dysregulation and survival after HSCT in pediatric inborn errors of immunity.","authors":"Andrés Soffia, Arturo Borzutzky, Cristián Sotomayor","doi":"10.70962/jhi.20260093","DOIUrl":"10.70962/jhi.20260093","url":null,"abstract":"<p><p>Allogeneic hematopoietic stem cell transplantation (HSCT) is curative for many inborn errors of immunity (IEIs), but the prognostic role of pretransplant immune dysregulation in pediatric patients remains unclear. We retrospectively studied 29 pediatric patients with genetically confirmed IEI undergoing HSCT between 2021 and 2025. Immune dysregulation was quantified using IDDA v2.1; HCT-CI and PARI were also calculated. 2-year overall survival (OS) was 79%, and event-free survival was 59%. Higher IDDA v2.1 scores were associated with inferior OS in univariate analysis (HR: 2.23 per five-point increase, P = 0.043) and remained associated in an exploratory multivariable model (HR: 2.76, P = 0.041). Harrell's C-statistic for OS was 0.722 for IDDA v2.1, 0.661 for HCT-CI, and 0.772 for PARI. Exploratory quadrant analyses suggested that IDDA v2.1 provides complementary information, identifying patients classified as lower risk by comorbidity indices who nonetheless had adverse outcomes. These findings support IDDA v2.1 as an adjunct pretransplant risk stratification tool in pediatric IEI.</p>","PeriodicalId":521015,"journal":{"name":"Journal of human immunity","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2027-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149221326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hematopoietic cell transplantation using treosulfan-based conditioning for IL-10 receptor deficiency.","authors":"Madhavi Lakkaraja, Erica G Schmitt, Amika K Sood, Karin Chen, Arunkumar J Modi, James W Verbsky, Troy Torgerson, Ghassan Wahbeh, Aleksandra Petrovic, K Scott Baker, Megan A Cooper, Lauri M Burroughs","doi":"10.70962/jhi.20260123","DOIUrl":"10.70962/jhi.20260123","url":null,"abstract":"<p><p>IL-10 receptor deficiency is a life-threatening inborn error of immunity associated with early-onset inflammatory bowel disease. Hematopoietic cell transplantation (HCT) using treosulfan-based conditioning resulted in excellent survival with full donor engraftment. Importantly, anakinra effectively served as a bridge to HCT.</p>","PeriodicalId":521015,"journal":{"name":"Journal of human immunity","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2027-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149198234","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":"Higher serum sCD14 is an independent biomarker for porto-sinusoidal vascular disease risk in CVID.","authors":"Laure Delaval, Karim Dorgham, Jehane Fadlallah, Emilie Corvilain, Pierre-Emmanuel Rautou, Eric Oksenhendler, Claire Fieschi, Guy Gorochov, Marion Malphettes","doi":"10.70962/jhi.20260066","DOIUrl":"10.70962/jhi.20260066","url":null,"abstract":"<p><p>Serum soluble CD14 (sCD14) is used as a surrogate marker for bacterial translocation. This cohort study demonstrates that higher baseline sCD14 levels are an independent biomarker for porto-sinusoidal vascular disease risk in patients with common variable immunodeficiency.</p>","PeriodicalId":521015,"journal":{"name":"Journal of human immunity","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2027-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13674294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149198384","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":"Open-label extension study of leniolisib in activated PI3Kδ syndrome: Long-term efficacy and safety.","authors":"V Koneti Rao, Anna Šedivá, Virgil A S H Dalm, Alessandro Plebani, Catharina Schuetz, Anna Shcherbina, Antonio Trizzino, Yulia Zharankova, Alanvin Orpia, Elaine Kulm, Julia Körholz, Vassilios Lougaris, Yulia Rodina, Jason Bradt, Anurag Relan, Gulbu Uzel","doi":"10.70962/jhi.20260040","DOIUrl":"10.70962/jhi.20260040","url":null,"abstract":"<p><p>Activated phosphoinositide 3-kinase delta syndrome (APDS) is an inborn error of immunity characterized by immune deficiency and dysregulation. Leniolisib is a selective phosphoinositide 3-kinase delta inhibitor approved to treat APDS in patients ≥12 years old. We report final results from a single-arm, open-label extension study in 37 patients with APDS (NCT02859727). Median leniolisib exposure was 4.3 years (range, 1.2-7.0 years). Adverse events (AE) were reported in 34 patients; 87% were grade 1. Serious AEs, reported in 10 patients, were deemed unrelated to leniolisib. Two patients discontinued treatment due to AEs: cardiac arrest and Hodgkin's lymphoma. There were significant reductions in annual infection (P = 0.0005) and respiratory infection (P = 0.0017) rates per year of treatment. Immunoglobulin replacement therapy (IRT) use significantly decreased per year of treatment (P = 0.0095). Clinically meaningful improvements in general health scores from the 36-Item Short Form Survey were observed. Overall, long-term use of leniolisib was generally well tolerated, and infections and IRT use reduced over time.</p>","PeriodicalId":521015,"journal":{"name":"Journal of human immunity","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2027-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13664708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149187648","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":"Genotype-phenotype analysis in 333 individuals with heterozygous variants in NFKB1.","authors":"Sophia Marie Armbruster, Andres Caballero-Oteyza, Oliver Bartsch, Tiziana Lorenzini, Hassan Abolhassani, Samantha Chan, Luis Ignacio González Granado, Victor Garcia-Bustos, Marta Dafne Cabañero Navalon, Nazanin Fathi, Nima Rezaei, Mathieu Fusaro, Roger Colobran, Kaan Boztug, Michele Proietti, Bodo Grimbacher","doi":"10.70962/jhi.20260076","DOIUrl":"https://doi.org/10.70962/jhi.20260076","url":null,"abstract":"<p><p>Heterozygous germline variants in NFKB1 can be classified into variants with \"known protein defect\" and \"unknown protein effect.\" However, beyond this, NFKB1 variants may be additionally categorized into at least eight distinct variant classes. We conducted a literature review of 67 papers reporting on NFKB1 variants and included four additional individuals, carrying previously unreported NFKB1 variants. We identified 333 individuals with unique variants in NFKB1. Our compiled data revealed that there is no sex predilection, the penetrance-including all heterozygous carriers-was 78%, and the mean age of onset for the \"known protein defect cohort\" was 21.2 years. Individuals harboring variants with a known protein defect demonstrated a higher frequency of malignancies and autoimmune disorders. However, these individuals were less frequently classified as affected than individuals with variants with unknown protein defect. Carriers of whole NFKB1 gene deletions had a significantly higher penetrance to being designated as \"affected,\" but beyond this, the clinical manifestations did not differ between variant classes.</p>","PeriodicalId":521015,"journal":{"name":"Journal of human immunity","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2027-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Monophonic position sets of Cartesian and lexicographic products of graphs.","authors":"Ullas Chandran S V, Sandi Klavžar, P K Neethu, James Tuite","doi":"10.1007/s40314-026-03901-3","DOIUrl":"https://doi.org/10.1007/s40314-026-03901-3","url":null,"abstract":"<p><p>The general position problem in graph theory asks for the number of vertices in a largest set <i>S</i> of vertices of a graph <i>G</i> such that no shortest path of <i>G</i> contains more than two vertices of <i>S</i>. The analogous monophonic position problem is obtained from the general position problem by replacing \"shortest path\" by \"induced path.\" In this paper the monophonic position number is studied on Cartesian and lexicographic products of graphs. It is proved that in Cartesian products, a monophonic position set can only be in one of three canonical forms, named layered, varied, and cliquey. The monophonic position number of an arbitrary Cartesian product is bounded from below and above. The two bounds coincide if neither of the factors has simplicial vertices. A formula for the monophonic position number of a lexicographic product is given which only contains the clique number and the structure of monophonic sets of the second factor.</p>","PeriodicalId":51278,"journal":{"name":"Computational and Applied Mathematics","volume":"46 2","pages":"44"},"PeriodicalIF":2.5,"publicationDate":"2027-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13569546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148957296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"数学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unified Multi-Class Electroencephalogram Artifact Recognition Using Machine Learning Classifiers.","authors":"Fernando Moncada Martins, Ramón Suárez, José R Villar, Víctor M González","doi":"10.1142/S0129065727500018","DOIUrl":"10.1142/S0129065727500018","url":null,"abstract":"<p><p>Artifacts are noisy signals that commonly contaminate electroencephalographic (EEG) recordings, mixing with underlying brain activity and degrading the quality of neurophysiological data. Previous research on epileptic Anomaly Detection has shown that this approach is also sensitive to unlabelled artifacts, often leading to an increased False Positive rate. While most methods focus on detecting or removing a single type of artifact, this work proposes a unified multi-class framework to classify several artifact types alongside normal and pathological brain activity within a recording using a single, simple Machine Learning classifier. A set of spectral, temporal and statistical features commonly associated with different artifact types is extracted. KNN and XGBoost classifiers are trained and evaluated under a cross-validation scheme. The results demonstrate strong performance for both models, achieving approximately 90% sensitivity across all classes while maintaining a 100% specificity. These findings highlight the effectiveness of a unified and interpretable approach for multi-class EEG artifact classification.</p>","PeriodicalId":94052,"journal":{"name":"International journal of neural systems","volume":" ","pages":"2750001"},"PeriodicalIF":6.4,"publicationDate":"2027-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148537909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interpretable Local-to-Global Estimation of Brain Aging Speed From Morphological Changes Using Longitudinal Structural MRI Data.","authors":"Yuanwang Zhang, Hongming Li, Yong Fan","doi":"10.1007/978-3-032-38172-9_31","DOIUrl":"10.1007/978-3-032-38172-9_31","url":null,"abstract":"<p><p>Accurate characterization of brain aging is essential for understanding cognitive decline and assessing the risk of neurodegenerative disease. Brain age estimated from cross-sectional magnetic resonance imaging (MRI) data provides a snapshot of brain health relative to chronological age, and the derived brain age delta has emerged as a promising biomarker. However, brain age delta reflects cumulative effects at a single time point and fails to capture ongoing aging dynamics. Longitudinal approaches address this limitation by estimating age differences between scan pairs to derive aging speed. Nevertheless, existing methods primarily rely on intensity or texture differences between images, overlook the spatial heterogeneity of aging processes, and provide limited interpretability. To overcome these limitations, we propose a novel framework that estimates brain aging speed from longitudinal deformation fields obtained via diffeomorphic image registration. Instead of solely generating a single global estimate, our method produces patch-wise local aging predictions and adaptively integrates them into a unified global prediction, improving both predictive performance and interpretability. Evaluated on large-scale datasets, our approach achieves superior accuracy compared with existing methods and enhances the identification of abnormal aging patterns in diseased populations. Code is available at https://github.com/Kateridge/MorphologyAgingSpeed.</p>","PeriodicalId":94280,"journal":{"name":"Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention","volume":"16887 ","pages":"323-332"},"PeriodicalIF":0.0,"publicationDate":"2027-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13644937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149140064","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":"Ambient particulate matter pollution and stroke burden.","authors":"Lu Jiang, Kuangyang Yu, Long Gu, Wenfeng Xiao, Wen Tan, Yong Jiang, Jianhua Peng","doi":"10.4103/mgr.MEDGASRES-D-25-00188","DOIUrl":"10.4103/mgr.MEDGASRES-D-25-00188","url":null,"abstract":"<p><p>As a major component of air pollution, ambient particulate matter pollution has rarely been studied with respect to its global stroke burden. This study aims to evaluate the global stroke incidence, mortality, and health inequalities related to ambient particulate matter pollution from 1990 to 2021. Utilizing the Global Burden of Disease Study 2021, we analyzed global stroke-related mortality, disability-adjusted life years, and their age-standardized rates. The estimated annual percentage change was calculated using a linear regression model. Health inequalities were measured using the concentration index and slope index of inequality. Between 1990 and 2021, global ambient particulate matter pollution-related stroke deaths and disability-adjusted life years increased by 107% and 101% respectively, yet age-standardized rates declined. China experienced the largest increases in deaths and disability-adjusted life years, Vietnam had the fastest rise in age-standardized mortality rates, the Russian Federation saw the steepest declines in deaths and disability-adjusted life years, and Estonia had the most rapid drop in age-standardized mortality rate. Middle socio-demographic index locations accounted for 46% of the global stroke burden, with age-standardized mortality rates and age-standardized disability-adjusted life years surpassing those in high socio-demographic index locations. From 1990 to 2021, age-standardized disability-adjusted life years rose in low-middle socio-demographic index locations but fell in high socio-demographic index locations. While the concentration index signaled an improvement in global inequality, the slope index of inequality in 2021 worsened compared with that in 1990. Between 1990 and 2021, the global burden of ambient particulate matter pollution-related stroke declined. However, substantial disparities persisted across different regions, sexes, and nations. For ongoing and future research efforts, priority should be given to high-risk populations and regions, while also developing innovative interventions to further reduce the incidence of ambient particulate matter pollution-related stroke and enhance patient outcomes.</p>","PeriodicalId":18559,"journal":{"name":"Medical Gas Research","volume":"17 1","pages":"7-14"},"PeriodicalIF":4.2,"publicationDate":"2027-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13667390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963550","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":"Nitric oxide signaling and mitophagy in Parkinson's disease: implications for aerobic exercise-related neuroprotection.","authors":"Yang Zhou, Yongliang Wu","doi":"10.4103/mgr.MEDGASRES-D-26-00008","DOIUrl":"10.4103/mgr.MEDGASRES-D-26-00008","url":null,"abstract":"<p><p>Parkinson's disease is strongly associated with mitochondrial dysfunction and impaired mitochondrial quality control, including defective mitophagy. Aerobic exercise is increasingly recognized as a safe and accessible intervention that can improve motor and non-motor outcomes in Parkinson's disease and may also engage mechanisms relevant to disease modification. In this review, we propose a context-dependent framework in which aerobic exercise reshapes nitric oxide signaling toward a more adaptive profile, characterized by relatively moderate, transient, and spatially restricted nitric oxide bioactivity, and we discuss how this shift may influence mitochondrial biogenesis, mitophagy initiation, and autophagic flux regulation. Rather than treating nitric oxide as uniformly protective or deleterious, we argue that its biological effects in Parkinson's disease depend on source, concentration, duration, subcellular localization, cellular target, and surrounding redox milieu. However, direct evidence that exercise-derived nitric oxide activates these pathways in Parkinson's disease-relevant neural tissue is still limited. We further highlight major translational gaps, including cell-type and brain-region heterogeneity, incomplete definition of exercise dose-response relationships, and the lack of validated in vivo biomarkers of neuronal mitophagy and nitric oxide dynamics in patients with Parkinson's disease. Overall, aerobic exercise is a plausible modulator of mitophagy-related pathways in Parkinson's disease, and nitric oxide is a credible contributor to this effect; however, the current evidence supports a multi-node, context-dependent model rather than a simple linear mechanism.</p>","PeriodicalId":18559,"journal":{"name":"Medical Gas Research","volume":"17 1","pages":"129-138"},"PeriodicalIF":4.2,"publicationDate":"2027-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13667388/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963593","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}