bluuebunny/crossref_metadata_2025_split huggingface dataset:
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood
Authors: Thomasová Dana , Zelinová Michaela , Libik Malgorzata , Geryk Jan , Votýpka Pavel , Rajnochová Bloudíčková Silvie , Krejčí Karel , Reiterová Jana , Jančová Eva , Machová Jana , Kollárová Martina , Rychík Ivan , Havrda Martin , Horáčková Miroslava , Putzová Martina , Šafránek Roman , Kollár Marek , Macek Milan 
Published: December 2023

BackgroundGenetic focal segmental glomerulosclerosis (FSGS) is caused by pathogenic variants in a broad spectrum of genes that have a variable representation based on subjects' ethnicity and/or age. The most frequently mutated autosomal recessive gene in FSGS is NPHS2. In this study, we analyzed the spectrum of NPHS2 variants and their associated phenotype in Czech adult FSGS patients.MethodsA representative cohort of 234 adult patients with FSGS, derived from 225 families originating from all regions of Czechia, was analyzed by massively parallel sequencing. In this study, we focused on the comprehensive analysis of the NPHS2 gene. The histological classification of FSGS followed the Columbia classification.ResultsWe detected seven (3%) cases bearing homozygous or compound heterozygous pathogenic NPHS2 variants. A single pathogenic variant c.868G &gt; A (p.Val290Met) was found in the majority of NPHS2-positive cases (86%; 6 out of 7) in histologically confirmed instances of FSGS. Its allele frequency among unrelated NPHS2-associated FSGS patients was 50% (6/12), and Haplotype analysis predicted its origin to be a result of a founder effect. There is an identical V290M-related haplotype on all V290M alleles spanning a 0,7 Mb region flanking NPHS2 in Central European FSGS populations. The phenotype of the p.Val290Met NPHS2-associated FSGS demonstrated a later onset and a much milder course of the disease compared to other NPHS2 pathogenic variants associated with FSGS. The mean age of the FSGS diagnosis based on kidney biopsy evaluation was 31.2 ± 7.46 years. In 50% of all cases, the initial disease manifestation of proteinuria occurred only in adulthood, with 83% of these cases not presenting with edemas. One-third (33%) of the studied subjects progressed to ESRD (2 out of 6) at the mean age of 35.0 ± 2.82 years.ConclusionsWe identified the most prevalent pathogenic variant, p.Val290Met, in the NPHS2 gene among Czech adult FSGS patients, which has arisen due to a founder effect in Central Europe. The documented milder course of the disease associated with this variant leads to the underdiagnosis in childhood. We established the histopathological features of the NPHS2-associated adult FSGS cases based on the Columbia classification. This might improve patient stratification and optimize their treatment.
Characterization of community-acquired Clostridioides difficile strains in Israel, 2020–2022
Authors: Schwartz Orna , Rohana Hanan , Azrad Maya , Shor Anna , Rainy Nir , Maor Yasmin , Nesher Lior , Sagi Orli , Ken-Dror Shifra , Kechker Peter , Peretz Avi 
Published: December 2023

BackgroundThe prevalence of community-acquired Clostridioides difficile infection (CA-CDI) has been rising, due to changes in antibiotics prescribing practices, emergence of hypervirulent strains and improved diagnostics. This study explored CA-CDI epidemiology by examining strain diversity and virulence factors of CA-CDI isolates collected across several geographical regions in Israel.MethodsStool samples of 126 CA-CDI patients were subjected to PCR and an immunoassay to identify toxin genes and proteins, respectively. Toxin loci PaLoc and PaCdt were detected by whole-genome sequencing (WGS). Biofilm production was assessed by crystal violet-based assay. Minimum inhibitory concentration was determined using the Etest technique or agar dilution. WGS and multi-locus sequence typing (MLST) were used to classify strains and investigate genetic diversity.ResultsSequence types (ST) 2 (17, 13.5%), ST42 (13, 10.3%), ST104 (10, 8%) and ST11 (9, 7.1%) were the most common. All (117, 92.8%) but ST11 belonged to Clade 1. No associations were found between ST and gender, geographic area or antibiotic susceptibility. Although all strains harbored toxins genes, 34 (27%) produced toxin A only, and 54 (42.9%) strains produced toxin B only; 38 (30.2%) produced both toxins. Most isolates were biofilm-producers (118, 93.6%), primarily weak producers (83/118, 70.3%). ST was significantly associated with both biofilm and toxin production.ConclusionC. difficile isolates in Israel community exhibit high ST diversity, with no dominant strain. Other factors may influence the clinical outcomes of CDI such as toxin production, antibiotic resistance and biofilm production. Further studies are needed to better understand the dynamics and influence of these factors on CA-CDI.
Weighted residual network for SAR automatic target recognition with data augmentation
Authors: Li Junyu , Peng Cheng 
Published: December 2023

IntroductionDecades of research have been dedicated to overcoming the obstacles inherent in synthetic aperture radar (SAR) automatic target recognition (ATR). The rise of deep learning technologies has brought a wave of new possibilities, demonstrating significant progress in the field. However, challenges like the susceptibility of SAR images to noise, the requirement for large-scale training datasets, and the often protracted duration of model training still persist.MethodsThis paper introduces a novel data augmentation strategy to address these issues. Our method involves the intentional addition and subsequent removal of speckle noise to artificially enlarge the scope of training data through noise perturbation. Furthermore, we propose a modified network architecture named weighted ResNet, which incorporates residual strain controls for enhanced performance. This network is designed to be computationally efficient and to minimize the amount of training data required.ResultsThrough rigorous experimental analysis, our research confirms that the proposed data augmentation method, when used in conjunction with the weighted ResNet model, significantly reduces the time needed for training. It also improves the SAR ATR capabilities.DiscussionCompared to existing models and methods tested, the combination of our data augmentation scheme and the weighted ResNet framework achieves higher computational efficiency and better recognition accuracy in SAR ATR applications. This suggests that our approach could be a valuable advancement in the field of SAR image analysis.
Effectiveness of early glucocorticoids in myasthenia gravis: a retrospective cohort study
Authors: Zhen Lulu , Zhao Xue , Li Wenbo , Wu Jinru , Shang Haodong , Chen Shufan , Zhu Xiaoyan , Wang Yiren , Yu Xiaoxiao , Hu Guanlian , Sun Zhan , Zhang Yingna , Zhang Jing , Fang Hua , Zhang Yunke , Zhang Qingyong , Cui Xinzheng , Lv Jie , Yang Junhong , Gao Feng 
Published: December 2023

PurposeThis study aimed to clarify the effect of early glucocorticoid (GC) application on achieving minimal manifestation (MM) status or better in the treatment of myasthenia gravis (MG) in the early clinical phase.MethodsA retrospective analysis was performed using data from 336 patients with MG who received GC therapy from January 2015 to September 2022 in the Zhengzhou University Henan Institute of Medical and Pharmaceutical Sciences Myasthenia Gravis Biobank (ZMB). Patients were divided into two groups: the early mono-GC group (treated with GC within 6 months of MG onset) and the delayed mono-GC group.ResultsKaplan–Meier analysis showed that the early mono-GC group achieved MM status earlier and more frequently than the delayed mono-GC group (log-rank test, p = 0.0082; hazard ratio [HR], 1.66; p = 0.011). The early mono-GC group had a lower maintenance oral GC dose than the delayed mono-GC group. In multivariate Cox regression analysis, early mono-GC (HR, 1.50; p = 0.043), early-onset MG (EOMG) (HR, 1.74; p = 0.034), and ocular MG (OMG) (HR, 1.90; p = 0.007) were associated with MM status or better. In conclusion, early mono-GC, EOMG, and OMG were positive predictors of treatment goals. In EOMG, OMG, and acetylcholine receptor antibody-positive MG (AChR-MG) subgroups, the maintenance oral GC doses in the early mono-GC group were significantly lower than the doses in the delayed mono-GC group (p &lt; 0.05).ConclusionEarly intervention with GC led to better long-term outcomes and reduced the necessary maintenance dose of oral GC for patients with MG. EOMG and OMG were positive predictors of MM status or better with mono-GC.
Evaluation of Parkinson’s disease early diagnosis using single-channel EEG features and auditory cognitive assessment
Authors: Molcho Lior , Maimon Neta B. , Hezi Neomi , Zeimer Talya , Intrator Nathan , Gurevich Tanya 
Published: December 2023

BackgroundParkinson’s disease (PD) often presents with subtle early signs, making diagnosis difficult. F-DOPA PET imaging provides a reliable measure of dopaminergic function and is a primary tool for early PD diagnosis. This study aims to evaluate the ability of machine-learning (ML) extracted EEG features to predict F-DOPA results and distinguish between PD and non-PD patients. These features, extracted using a single-channel EEG during an auditory cognitive assessment, include EEG feature A0 associated with cognitive load in healthy subjects, and EEG feature L1 associated with cognitive task differentiation.MethodsParticipants in this study are comprised of cognitively healthy patients who had undergone an F-DOPA PET scan as a part of their standard care (n = 32), and cognitively healthy controls (n = 20). EEG data collected using the Neurosteer system during an auditory cognitive task, was decomposed using wavelet-packet analysis and machine learning methods for feature extraction. These features were used in a connectivity analysis that was applied in a similar manner to fMRI connectivity. A preliminary model that relies on the features and their connectivity was used to predict initially unrevealed F-DOPA test results. Then, generalized linear mixed models (LMM) were used to discern between PD and non-PD subjects based on EEG variables.ResultsThe prediction model correctly classified patients with unrevealed scores as positive F-DOPA. EEG feature A0 and the Delta band revealed distinct activity patterns separating between study groups, with controls displaying higher activity than PD patients. In controls, EEG feature L1 showed variations between resting state and high-cognitive load, an effect lacking in PD patients.ConclusionOur findings exhibit the potential of single-channel EEG technology in combination with an auditory cognitive assessment to distinguish positive from negative F-DOPA PET scores. This approach shows promise for early PD diagnosis. Additional studies are needed to further verify the utility of this tool as a potential biomarker for PD.
Using dual-task gait to recognize Alzheimer’s disease and mild cognitive impairment: a cross-sectional study
Authors: Li Zhaoying , Zhu Jingyi , Liu Junyan , Shi Min , Liu Pan , Guo Junjie , Hu Zhenzhu , Liu Shanyu , Yang Dongdong 
Published: December 2023

BackgroundGait is a potential diagnostic tool for detecting mild cognitive impairment (MCI) and Alzheimer’s disease (AD). Nevertheless, little attention has been paid to arm movements during walking, and there is currently no consensus on gait asymmetry. Therefore, in this study, we aimed to determine whether arm motion and gait asymmetry could be utilized for identifying MCI and AD.MethodsIn total, 102 middle-aged and elderly individuals were included in the final analysis and were assigned to the following three groups: AD (n = 27), MCI (n = 35), and a normal control group (n = 40). Gait and cognitive assessments were conducted for all participants. Gait detection included a single-task gait with free-speed walking and a dual-task gait with adding a cognitive task of successive minus seven to walking. Original gait parameters were collected using a wearable device featuring the MATRIX system 2.0. Gait parameters were shortened to several main gait domains through factor analysis using principal component extraction with varimax rotation. Subsequently, the extracted gait domains were used to differentiate the three groups, and the area under the receiver operating characteristic curve was calculated.ResultsFactor analysis of single-task gait identified five independent gait domains: rhythm symmetry, rhythm, pace asymmetry, arm motion, and variability. Factor analysis of the dual-task gait identified four gait domains: rhythm, variability, symmetry, and arm motion. During single-task walking, pace asymmetry was negatively correlated with MoCA scores and could distinguish between the AD group and the other two groups. Arm motion was not associated with MoCA scores, and did not exhibit adequate discrimination in either task.ConclusionCurrently, there is no reliable evidence suggesting that arm motion can be used to recognize AD or MCI. Gait asymmetry can serve as a potential gait marker for the auxiliary diagnosis of AD but not for MCI.
Comparative metabolomic study of fungal foliar endophytes and their long-lived host Astrocaryum sciophilum: a model for exploring the chemodiversity of host-microbe interactions
Authors: Pellissier Leonie , Gaudry Arnaud , Vilette Salomé , Lecoultre Nicole , Rutz Adriano , Allard Pierre-Marie , Marcourt Laurence , Ferreira Queiroz Emerson , Chave Jérôme , Eparvier Véronique , Stien Didier , Gindro Katia , Wolfender Jean-Luc 
Published: December 2023

IntroductionIn contrast to the dynamics observed in plant/pathogen interactions, endophytic fungi have the capacity to establish enduring associations within their hosts, leading to the development of a mutually beneficial relationship that relies on specialized chemical interactions. Research indicates that the presence of endophytic fungi has the ability to significantly modify the chemical makeup of the host organism. Our hypothesis proposes the existence of a reciprocal exchange of chemical signals between plants and fungi, facilitated by specialized chemical processes that could potentially manifest within the tissues of the host. This research aimed to precisely quantify the portion of the cumulative fungal endophytic community's metabolome detectable within host leaves, and tentatively evaluate its relevance to the host-endophyte interplay. The understory palm Astrocaryum sciophilum (Miq.) Pulle was used as a interesting host plant because of its notable resilience and prolonged life cycle, in a tropical ecosystem.MethodUsing advanced metabolome characterization, including UHPLC-HRMS/MS and molecular networking, the study explored enriched metabolomes of both host leaves and 15 endophytic fungi. The intention was to capture a metabolomic "snapshot" of both host and endophytic community, to achieve a thorough and detailed analysis.Results and discussionThis approach yielded an extended MS-based molecular network, integrating diverse metadata for identifying host- and endophyte-derived metabolites. The exploration of such data (&gt;24000 features in positive ionization mode) enabled effective metabolome comparison, yielding insights into cultivable endophyte chemodiversity and occurrence of common metabolites between the holobiont and its fungal communities. Surprisingly, a minor subset of features overlapped between host leaf and fungal samples despite significant plant metabolome enrichment. This indicated that fungal metabolic signatures produced in vitro remain sparingly detectable in the leaf. Several classes of primary metabolites were possibly shared. Specific fungal metabolites and/or compounds of their chemical classes were only occasionally discernible in the leaf, highlighting endophytes partial contribution to the overall holobiont metabolome. To our knowledge, the metabolomic study of a plant host and its microbiome has rarely been performed in such a comprehensive manner. The general analytical strategy proposed in this paper seems well-adapted for any study in the field of microbial- or microbiome-related MS and can be applied to most host-microbe interactions.
Effectiveness of electroacupuncture on anxiety: a systematic review and meta-analysis of randomized controlled trials
Authors: Hong Wan ki , Kim Yeon Ji , Lee Ye rim , Jeong Hye In , Kim Kyeong Han , Ko Seong-Gyu 
Published: December 2023

This systematic review and meta-analysis aimed to comprehensively evaluate the effectiveness of electroacupuncture (EA) for patients with anxiety. Randomized controlled trials (RCTs) on the treatment of anxiety by EA up to November 2022 were searched and collected from nine databases. Hamilton Anxiety Rating Scale (HAMA), self-rating anxiety scale (SAS), and adverse reactions were used as outcome indicators. The quality of relevant articles was evaluated using the Cochrane Collaboration’s risk of bias tool. The quality of evidence for each outcome was classified as “low risk,” “unclear risk,” or “high risk.” RevMan 5.0 was used for data analysis. A total of 633 articles were identified from nine electronic databases; 37 RCTs were included, which measured anxiety changes by using EA alone compared to the control group. For the main outcome, EA significantly reduced the HAMA score [Mean difference (MD):−1.13 (95% CI:−2.55–0.29), I2:80%], and the quality of evidence was moderate. EA significantly reduced the SAS score (MD:−3.47 (95% CI,−6.57−−0.36), I2:88%), and the quality of evidence was moderate. Our meta-analysis shows that EA reduces HAMA and SAS. This study suggests that EA can relieve anxiety. For various uses, additional research is needed on its effect when combined with other treatments.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?RecordID=345658, identifier (CRD42022345658).
The impact of organizational politics on work engagement—the mediating role of the doctrine of the mean
Authors: Su Weijian , Xie Chengxuan 
Published: December 2023

IntroductionEvents Theory posits that the perception of organizational politics affects job attitudes. The purpose of this study was to answer the question: does organizational politics have a similar impact on Chinese individuals who adhere to the doctrine of the mean?MethodsWe collected survey data from 3,059 library personnel in 36 Chinese university libraries and conducted analysis using the Analytic Hierarchy Process.ResultsThe results showed that the perception of organizational politics reduces employee work engagement. However, this impact exhibits heterogeneity. For newly recruited employees and employees aged 50 and above who are nearing retirement, the impact of organizational politics on work engagement is relatively small. Conversely, for employees aged 30–50, organizational politics has a significant negative impact. Furthermore, the doctrine of the mean moderates the impact of organizational politics on work engagement, mitigating its negative effects.DiscussionThe conclusions offer new insights into enhancing employee work motivation. The library should take more measures to safeguard employee rights to enhance work motivation.
Investigating the borders of autism spectrum disorder: lessons from the former diagnosis of pervasive developmental disorder not otherwise specified
Authors: Coutelle Romain , Coulon Nathalie , Schröder Carmen M. , Putois Olivier 
Published: December 2023

IntroductionAutism Spectrum Disorder (ASD) diagnosis is relatively consensual in typical forms. The margins of the spectrum and their degree of extension, however, are controversial. This has far-reaching implications, which extend beyond theoretical considerations: first, peripheral forms of autism are more prevalent than central forms; second, we do not know how relevant typical-targeted recommendations are for atypical forms. In DSM-IV-TR, these margins of autism were studied within the category of Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS). In spite of its low reliability, this former diagnosis was of particular interest to shed light on the gray area of margins. The aim of this systematic is therefore to investigate the clinical characteristics of PDD-NOS in comparison with Autistic Disorder.MethodA stepwise systematic PRISMA literature review was conducted by searching PubMed and Web Of Science databases to select corresponding studies.ResultsThe systematic review included 81 studies comprising 6,644 children with PDD-NOS. Cross-sectional and longitudinal studies comparing PDD-NOS and AD showed that PDD-NOS corresponds to milder form of autism with less impact and less associated disorder, with the exception of schizophrenia and mood disorder.DiscussionOur review challenges initial views of PDD-NOS, and shows the clinical relevance of this diagnosis when dealing with the margins of autism, and the de facto diversity included in the spectrum. However, in view of the many limitations of PDD-NOS (low reliability, instability through time, low acceptability), we suggest taxonomic changes in DSM-5: we introduce a new category based on three main dimensions related to socialization impairment, emotional lability and psychotic symptoms.ConclusionOur review argues for a distinction between AD and PDD-NOS on clinical characteristics and thus highlights the need to study the margins of autism. While the limitations of the PDD-NOS category made it irrelevant to investigate these margins from a research perspective, we believe that a multidimensional approach for mental health professionals taping socialization, emotion lability and psychotic symptoms would be interesting. Our review therefore encourage future studies to test relevant criteria for a new category and possibly identify developmental trajectories, specific interventions and treatments.