IF 6.4

International journal of neural systems Pub Date : 2027-02-01 Epub Date: 2026-09-02 DOI: 10.1142/S0129065727500134

Hsiao-Ching She, Meng-Jun Chen, Hsin-Ju Tsai, Jeng-Ren Duann, Li-Yu Huang, Wen-Chi Chou, Ching-Ying Hsueh

{"title":"Functional Connectivity Among Prefrontal, Hippocampal, and Temporal Systems Supporting Conceptual Change in Science Learning.","authors":"Hsiao-Ching She, Meng-Jun Chen, Hsin-Ju Tsai, Jeng-Ren Duann, Li-Yu Huang, Wen-Chi Chou, Ching-Ying Hsueh","doi":"10.1142/S0129065727500134","DOIUrl":"https://doi.org/10.1142/S0129065727500134","url":null,"abstract":"Scientific conceptual change poses a cognitive challenge in science learning, requiring cognitive conflict resolution and restructuring of entrenched semantic knowledge. Although neuroscience implicates coordinated prefrontal cognitive control and hippocampal-temporal systems in conflict resolution and semantic memory updating, direct neural evidence of their interaction during conceptual change remains limited. Using functional MRI and Granger Causality (GC) analyses, we examined neural mechanisms distinguishing successful from unsuccessful conceptual change across task complexities in 48 undergraduate and graduate STEM majors who completed 39 conceptual change tasks (19 weak restructuring task, 20 radical restructuring task). Learners exhibited greater conceptual change success during weak than radical restructuring, with enhanced BOLD activation in the superior, middle, and inferior frontal gyri (SFG, MFG, IFG), Hippocampus (HIP), and Superior Temporal Gyrus (STG) during successful versus unsuccessful conceptual change. GC analysis identified a minimal network (SFG, MFG→HIP, STG→MTG, MTG→HIP) common to both conditions, whereas successful conceptual change engaged a denser prefrontal-hippocampal-temporal network, marked by additional unidirectional (MFG→SFG, MFG→IFG, IFG→HIP) and bidirectional (MFG↔STG, STG↔HIP, MTG↔HIP) connectivity. Unsuccessful conceptual change was characterized by shallow, fragmented connectivity and limited cross-regional integration. Collectively, these findings suggest that effective conceptual change arises from coordinated neural networks integrating executive control, semantic processing, and memory updating.","PeriodicalId":94052,"journal":{"name":"International journal of neural systems","volume":"37 2","pages":"2750013"},"PeriodicalIF":6.4,"publicationDate":"2027-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149187017","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}

引用次数: 0

Disease associations for rare immune genetic variants require statistical or rule-based support. 罕见免疫遗传变异的疾病关联需要统计学或基于规则的支持。

Journal of human immunity Pub Date : 2027-01-04 Epub Date: 2026-10-19 DOI: 10.70962/jhi.20260099

Paul E Gray, Stuart G Tangye, Edwin P Kirk

{"title":"Disease associations for rare immune genetic variants require statistical or rule-based support.","authors":"Paul E Gray, Stuart G Tangye, Edwin P Kirk","doi":"10.70962/jhi.20260099","DOIUrl":"https://doi.org/10.70962/jhi.20260099","url":null,"abstract":"Validating weak gene-disease associations requires statistical support from large case-control studies. In contrast, strong (e.g., monogenic) gene-disease associations may be established from relatively few affected individuals, when independent orthogonal evidence converges. Here, we examine four publications associating heterozygous variants in five genes-TNIP1, P2RY8, BLK, BANK1, and SH2B3-with autoimmune disease (predominantly systemic lupus erythematosus [SLE]). While we do not dispute the molecular findings of these studies, we do not accept the proposed disease associations, which lack case-control evidence and where high minor allele frequencies in non-disease populations, indicate that the genotypes are far too common to represent Mendelian disease alleles. Additionally, 8 of 18 alleles were searchable in UK Biobank, and none showed enrichment in SLE. Until further evidence emerges, caution is warranted in ascribing disease association to heterozygous genotypes in TNIP1, P2RY8, BLK, BANK1, and SH2B3, and linkage to patients in clinical pedigrees should not be taken as inferring a monoallelic inborn error of immunity.","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":"149221325","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}

引用次数: 0

Pretransplant immune dysregulation and survival after HSCT in pediatric inborn errors of immunity. 儿童先天性免疫缺陷的移植前免疫失调和移植后的生存。

Journal of human immunity Pub Date : 2027-01-04 Epub Date: 2026-10-19 DOI: 10.70962/jhi.20260093

Andrés Soffia, Arturo Borzutzky, Cristián Sotomayor

引用次数: 0

Hematopoietic cell transplantation using treosulfan-based conditioning for IL-10 receptor deficiency. treosulan为基础的造血细胞移植治疗IL-10受体缺乏。

Journal of human immunity Pub Date : 2027-01-04 Epub Date: 2026-10-15 DOI: 10.70962/jhi.20260123

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

引用次数: 0

Open-label extension study of leniolisib in activated PI3Kδ syndrome: Long-term efficacy and safety. lenolisib治疗活化PI3Kδ综合征的开放标签扩展研究：长期疗效和安全性。

Journal of human immunity Pub Date : 2027-01-04 Epub Date: 2026-10-14 DOI: 10.70962/jhi.20260040

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

{"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":"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.","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}

引用次数: 0

Higher serum sCD14 is an independent biomarker for porto-sinusoidal vascular disease risk in CVID. 较高的血清sCD14是CVID患者门窦血管疾病风险的独立生物标志物。

Journal of human immunity Pub Date : 2027-01-04 Epub Date: 2026-10-16 DOI: 10.70962/jhi.20260066

Laure Delaval, Karim Dorgham, Jehane Fadlallah, Emilie Corvilain, Pierre-Emmanuel Rautou, Eric Oksenhendler, Claire Fieschi, Guy Gorochov, Marion Malphettes

引用次数: 0

Genotype-phenotype analysis in 333 individuals with heterozygous variants in NFKB1. 333例NFKB1杂合变异个体的基因型-表型分析。

Journal of human immunity Pub Date : 2027-01-04 Epub Date: 2026-10-19 DOI: 10.70962/jhi.20260076

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

{"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":"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.","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}

引用次数: 0

Unified Multi-Class Electroencephalogram Artifact Recognition Using Machine Learning Classifiers. 基于机器学习分类器的统一多类脑电图伪迹识别。

IF 6.4

International journal of neural systems Pub Date : 2027-01-01 Epub Date: 2026-07-22 DOI: 10.1142/S0129065727500018

Fernando Moncada Martins, Ramón Suárez, José R Villar, Víctor M González

{"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":"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.","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}

引用次数: 0

Monophonic position sets of Cartesian and lexicographic products of graphs. 图的笛卡儿积和字典积的单音位置集。

IF 2.5 3区数学

Computational and Applied Mathematics Pub Date : 2027-01-01 Epub Date: 2026-09-11 DOI: 10.1007/s40314-026-03901-3

Ullas Chandran S V, Sandi Klavžar, P K Neethu, James Tuite

引用次数: 0

Interpretable Local-to-Global Estimation of Brain Aging Speed From Morphological Changes Using Longitudinal Structural MRI Data. 利用纵向结构MRI数据从形态学变化对脑衰老速度的可解释局部到全局估计。

Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention Pub Date : 2027-01-01 Epub Date: 2026-09-24 DOI: 10.1007/978-3-032-38172-9_31

Yuanwang Zhang, Hongming Li, Yong Fan

{"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":"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.","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}

引用次数: 0

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