bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prevalence and molecular basis of null blood group phenotypes in the Korean population: Analysis using a public database
Authors: Kim Tae Yeul , Park Min‐Seung , Jang Ja‐Hyun , Woo Hee‐Yeon , Cho Duck 
Published: November 2023

AbstractBackgroundNull phenotypes are characterized by complete absence of all antigens within a blood group system and caused by null variants (e.g., nonsense, frameshift, initiation codon, and canonical splice site variants) in the genes encoding the antigens. Knowing the prevalence and molecular basis of null phenotypes is essential to establish a rare donor program, and the aim of this study was to reveal the prevalence and molecular basis of null phenotypes using the Korean Reference Genome Database (KRGDB) containing whole‐genome sequences of 1722 Korean individuals.Study Design and MethodsPopulation allele frequencies of null alleles in 39 blood group systems except ABO, MNS, Rh, Lewis, and FORS were obtained from the KRGDB. The prevalence of null phenotypes was calculated using Hardy–Weinberg equation.ResultsThe prevalence of null phenotypes were estimated to be less than 0.001% in all blood group systems except JR and SID. The prevalence of the Jr(a−) and Sd(a−) phenotypes were estimated to be 0.0453% and 0.2323%, respectively. The most frequent null allele of the JR system was ABCG2*01N.01, accounting for approximately 85% of null alleles.DiscussionOur approach using a public database allowed us to investigate the prevalence and molecular basis of null phenotypes in the Korean population, which will serve as a guide for establishing a rare donor program in Korea. Considering the clinical significance, Jr(a−) is an important null phenotype that should be typed in the Korean population, and molecular assays targeting the most frequent allele ABCG2*01N.01 may be useful in detecting this phenotype.
Is ICE hot? A genomic comparative study reveals integrative and conjugative elements as “hot” vectors for the dissemination of antibiotic resistance genes
Authors: Zheng Qi , Li Liguan , Yin Xiaole , Che You , Zhang Tong 
Published: November 2023

ABSTRACT
The dissemination of antibiotic resistance genes (ARGs) driven by mobile genetic elements (MGEs), especially among pathogenic bacteria, is of increasing global concern. Different from other well-characterized MGEs, integrative and conjugative elements (ICEs) have been lacking a comprehensive understanding of their roles in ARG propagation across bacterial phylogenies. Through genomic study based on a large collection of bacterial complete genomes and further comparative analysis with two prominent MGEs to spread ARGs—conjugative plasmids and class 1 integrons, we, for the first time, demonstrated that ICEs are indeed overlooked “hot” vectors from the aspects of mobility and pathogenicity: (i) ICEs exhibited broader phylogenetic distribution among two dominant phyla with high ARG diversity and (ii) ARG-carrying ICEs were significantly enriched in potential human pathogens covering all the six “ESKAPE” species, of which some displayed typical co-occurrence patterns with ARGs and virulence factors. Moreover, this first genomic comparative study also deciphered the distinct ARG profiles harbored by these three essential MGE groups in terms of diversity and prevalence, with characteristic ARG preference to each MGE group. Overall, our findings concerning the MGE-specific performance for ARG transmission, in particular, the historically understudied ICEs, could shed light on control strategy optimization to antibiotic resistance crises.

IMPORTANCE
Different from other extensively studied mobile genetic elements (MGEs) whose discoveries were initiated decades ago (1950s–1980s), integrative and conjugative elements (ICEs), a diverse array of more recently identified elements that were formally termed in 2002, have aroused increasing concern for their crucial contribution to the dissemination of antibiotic resistance genes (ARGs). However, the comprehensive understanding on ICEs’ ARG profile across the bacterial tree of life is still blurred. Through a genomic study by comparison with two key MGEs, we, for the first time, systematically investigated the ARG profile as well as the host range of ICEs and also explored the MGE-specific potential to facilitate ARG propagation across phylogenetic barriers. These findings could serve as a theoretical foundation for risk assessment of ARGs mediated by distinct MGEs and further to optimize therapeutic strategies aimed at restraining antibiotic resistance crises.
Work productivity in patients with axial spondyloarthritis initiating biological or targeted synthetic disease-modifying antirheumatic drugs: a systematic literature review and meta-analysis
Authors: Rudwaleit Martin , Mørup Michael F , Humphries Brittany , Zannat Noor-E , Willems Damon , Taieb Vanessa , Boonen Annelies 
Published: November 2023

BackgroundAxial spondyloarthritis (axSpA) can limit work participation. Our objective was to characterise productivity in patients with axSpA, including changes after 12–16 weeks of treatment with biological and targeted synthetic disease-modifying antirheumatic drugs (b/tsDMARDs).MethodsA systematic literature review identified studies published from 1 January 2010 to 21 October 2021 reporting work productivity using the Work Productivity and Activity Impairment (WPAI) questionnaire in patients with axSpA initiating b/tsDMARDs. Baseline and Week 12–16 overall work productivity, absenteeism, presenteeism and activity impairment scores were used in a random-effects meta-analysis to calculate absolute mean change from baseline for each WPAI-domain.ResultsEleven studies in patients with axSpA who received either placebo (n=727) or treatment with adalimumab, bimekizumab, etanercept, ixekizumab, secukinumab or tofacitinib (n=994) were included. In working patients initiating a b/tsDMARD, mean baseline overall work productivity impairment, absenteeism and presenteeism scores were 52.1% (N=7 studies), 11.0% and 48.8% (N=6 studies), respectively. At Week 12–16, the pooled mean change from baseline in overall work impairment for b/tsDMARDs or placebo was −21.6% and −12.3%. When results were extrapolated to 1 year, the potential annual reductions in cost of paid and unpaid productivity loss per patient ranged from €11 962.88 to €14 293.54.ConclusionsOver 50% of employed patients with active axSpA experienced work impairment, primarily due to presenteeism. Overall work productivity improved at Weeks 12–16 to a greater extent for patients who received b/tsDMARDs than placebo. Work productivity loss was associated with a substantial cost burden, which was reduced with improvements in impairment.
Efficient fault tolerant cost optimized approach for scientific workflow via optimal replication technique within cloud computing ecosystem
Authors: Anjum Asma , Parveen Asma 
Published: November 2023

<span lang="EN-US">Cloud computing is one of the dispersed and effective computing models, which offers tremendous opportunity to address scientific issues with big scale characteristics. Despite having such a dynamic computing paradigm, it faces several difficulties and falls short of meeting the necessary quality of services (QoS) standards. For sustainable cloud computing workflow, QoS is very much required and need to be addressed. Recent studies looked on quantitative fault-tolerant programming to reduce the number of copies while still achieving the reliability necessity of a process on the heterogeneous infrastructure as a service (IaaS) cloud. In this study, we create an optimal replication technique (ORT) about fault tolerance as well as cost-driven mechanism and this is known as optimal replication technique with fault tolerance and cost minimization (ORT-FTC). Here ORT-FTC employs an iterative-based method that chooses the virtual machine and its copies that have the shortest makespan in the situation of specific tasks. By creating test cases, ORT-FTC is tested while taking into account scientific workflows like CyberShake, laser interferometer gravitational-wave observatory (LIGO), montage, and sipht. Additionally, ORT-FTC is shown to be only slightly improved over the current model in all cases. </span>
A survey of predicting software reliability using machine learning methods
Authors: Khaleel Shahbaa I. , Salih Lumia Faiz 
Published: November 2023

<span lang="EN-US">In light of technical and technological progress, software has become an urgent need in every aspect of human life, including the medicine sector and industrial control. Therefore, it is imperative that the software always works flawlessly. The information technology sector has witnessed a rapid expansion in recent years, as software companies can no longer rely only on cost advantages to stay competitive in the market, but programmers must provide reliable and high-quality software, and in order to estimate and predict software reliability using machine learning and deep learning, it was introduced A brief overview of the important scientific contributions to the subject of software reliability, and the researchers' findings of highly efficient methods and techniques for predicting software reliability. </span>
Defending against label-flipping attacks in federated learning systems using uniform manifold approximation and projection
Authors: Upreti Deepak , Kim Hyunil , Yang Eunmok , Seo Changho 
Published: November 2023

<span lang="EN-US">The user experience can be greatly improved by using learning models that have been trained using data from mobile devices and other internet of things (IoT) devices. Numerous efforts have been made to implement federated learning (FL) algorithms in order to facilitate the success of machine learning models. Researchers have been working on various privacy-preserving methodologies, such as deep neural networks (DNN), support vector machines (SVM), logistic regression, and gradient boosted decision trees, to support a wider range of machine learning models. The capacity for computing and storage has increased over time, emphasizing the growing significance of data mining in engineering. Artificial intelligence and machine learning have recently achieved remarkable progress. We carried out research on data poisoning attacks in the FL system and proposed defence technique using uniform manifold approximation and projection (UMAP). We compare the efficiency by using UMAP, principal component analysis (PCA), Kernel principal component analysis (KPCA) and k-mean clustering algorithm. We make clear in the paper that UMAP performs better than PCA, KPCA and k-mean, and gives excellent performance in detection and mitigating against data-poisoning attacks. </span>
Increased FH-Risk-Score and Diabetes Are Cardiovascular Risk Equivalents in Heterozygous Familial Hypercholesterolemia
Authors: Paquette Martine , Cariou Bertrand , Bernard Sophie , Hegele Robert A. , Gallo Antonio , Genest Jacques , Trinder Mark , Brunham Liam R. , Béliard Sophie , Baass Alexis 
Published: November 2023

BACKGROUND:
Familial hypercholesterolemia (FH) is a genetic condition causing premature atherosclerotic cardiovascular disease (ASCVD). It is well established that patients with FH should be treated with statin therapy. However, there exists discordance concerning low-density lipoprotein cholesterol–lowering goals in the management of these patients between different guidelines worldwide. The objective was to compare the 10-year ASCVD risk of different subgroups of patients with and without FH including those with diabetes or a history of ASCVD and patients with FH within different FH-Risk-Score categories.

METHODS:
This multinational observational study used data from 3 different prospective cohorts. A total of 3383 FH and 6917 non-FH controls matched for age and sex were included (104 363 person-years of follow-up). The 10-year incident ASCVD risk was assessed using Kaplan-Meier estimates, whereas the relative risk was estimated using Cox proportional hazards regression models.

RESULTS:

FH patients with a high (score >20%) FH-Risk-Score (hazard ratio, 8.45 [95% CI, 6.69–10.67];
P
<0.0001), FH patients with diabetes (hazard ratio, 7.67 [95% CI, 4.82–12.21];
P
<0.0001), and non-FH patients with ASCVD (hazard ratio, 6.78 [95% CI, 5.45–8.42];
P
<0.0001) had a significantly higher incident ASCVD risk over 10 years than the reference group (non-FH without ASCVD or diabetes). The observed 10-year risks in these groups were 32.1%, 30.8%, 30.0%, and 5.1%, respectively. The 10-year ASCVD risk associated with both FH and ASCVD was extremely high (observed risk of 50.7%; hazard ratio, 14.53 [95% CI, 12.14–17.38];
P
<0.0001).

CONCLUSIONS:
This study strongly suggests that the observed risk of FH patients with diabetes, history of ASCVD, and FH-Risk-Score >20% is as high or higher than non-FH individuals with a history of ASCVD. More aggressive management should be recommended for these patients.
Sperm chromatin structure assay (SCSA®) and flow cytometry-assisted TUNEL assay provide a concordant assessment of sperm DNA fragmentation as a function of age in a large cohort of approximately 10,000 patients
Authors: Behdarvandian Paria , Nasr-Esfahani Ali , Tavalaee Marziyeh , Pashaei Kosar , Naderi Nushin , Darmishonnejad Zahra , Hallak Jorge , Aitken Robert J. , Gharagozloo Parviz , Drevet Joël R. , Nasr-Esfahani Mohammad Hossein 
Published: November 2023

Abstract
Background
Sperm DNA integrity is increasingly seen as a critical characteristic determining reproductive success, both in natural reproduction and in assisted reproductive technologies (ART). Despite this awareness, sperm DNA and nuclear integrity tests are still not part of routine examinations for either infertile men or fertile men wishing to assess their reproductive capacity. This is not due to the unavailability of DNA and sperm nuclear integrity tests. On the contrary, several relevant but distinct tests are available and have been used in many clinical trials, which has led to conflicting results and confusion. The reasons for this are mainly the lack of standardization between different clinics and between the tests themselves. In addition, the small number of samples analyzed in these trials has often weakened the value of the analyses performed. In the present work, we used a large cohort of semen samples, covering a wide age range, which were simultaneously evaluated for sperm DNA fragmentation (SDF) using two of the most frequently used SDF assays, namely the TUNEL assay and the sperm chromatin structure assay (SCSA®). At the same time, as standard seminal parameters (sperm motility, sperm morphology, sperm count) were available for these samples, correlations between age, SDF and conventional seminal parameters were analyzed.

Results
We show that the SCSA® and TUNEL assessments of SDF produce concordant data. However, the SDF assessed by TUNEL is systematically lower than that assessed by SCSA®. Regardless of the test used, the SDF increases steadily during aging, while the HDS parameter (High DNA stainability assessed via SCSA®) remains unchanged. In the cohort analyzed, conventional sperm parameters do not seem to discriminate with aging. Only sperm volume and motility were significantly lower in the oldest age group analyzed [50–59 years of age].

Conclusions
In the large cohort analyzed, SDF is an age-dependent parameter, increasing linearly with aging. The SCSA® assessment of SDF and the flow cytometry-assisted TUNEL assessment are well correlated, although TUNEL is less sensitive than SCSA®. This difference in sensitivity should be taken into account in the final assessment of the true level of fragmentation of the sperm nucleus of a given sample. The classical sperm parameters (motility, morphology, sperm count) do not change dramatically with age, making them inadequate to assess the fertility potential of an individual.
Correlation between the female pelvic floor biomechanical parameters and the severity of stress urinary incontinence
Authors: Koroknai Erzsébet , Rátonyi Dávid , Pákozdy Krisztina , Sipos Attila G. , Krasznai Zoárd , Takacs Peter , Kozma Bence 
Published: November 2023

Abstract
Background
Stress urinary incontinence (SUI) is a common condition that requires proper evaluation to select a personalized therapy. Vaginal Tactile Imaging (VTI) is a novel method to assess the biomechanical parameters of the pelvic floor.

Methods
Women with SUI were enrolled in this cross-sectional study. Participants completed the Medical, Epidemiologic, and Social Aspects of Aging (MESA) questionnaire and the Patient Global Impression of Severity Question (PGI-S) and underwent a VTI examination. Based on the MESA and PGI-S questionnaires, participants were divided into mild, moderate, and severe SUI groups. Fifty-two biomechanical parameters of the pelvic floor were measured by VTI and compared between the groups (mild vs. moderate and severe). SUI Score and Index were calculated from the MESA questionnaire. Pearson correlation was used to determine the strength of association between selected VTI parameters and the MESA SUI Index and MESA SUI Score.

Results
Thirty-one women were enrolled into the study. Significant differences were observed in the VTI parameters 16, 22–24, 38, 39 when the difference between mild and severe subgroups of SUI based on the PGI-S score was examined. Parameter 16 refers to the maximum gradient at the perineal body, parameter 22–24 refers to the pressure response of the tissues behind the vaginal walls, and parameter 38, 39 refers the maximum pressure change and value on the right side at voluntary muscle contraction. VTI parameter 49, describing the displacement of the maximum pressure peak in the anterior compartment, showed a significant difference between the mild SUI and the moderate-severe SUI according to the MESA SUI score (mean ± SD 14.06 ± 5.16 vs. 7.54 ± 7.46, P = 0.04). The MESA SUI Index and SUI Score displayed a positive correlation concerning VTI parameters 4 (the maximum value of the posterior gradient) and 27 (the displacement of the maximum pressure peak in the anterior compartment) (VTI4 vs. MESA SUI Index r = 0.373, P = 0.039; VTI4 vs. MESA SUI Score r = 0.376, P = 0.037; VTI27 vs. MESA SUI Index r = 0.366, P = 0.043; VTI27 vs. MESA SUI Score r = 0.363, P = 0.044).

Conclusions
Female pelvic floor biomechanical parameters, as measured by VTI, correlate significantly with the severity of SUI and may help guide therapeutic decisions.
The health of mothers caring for a child with a disability: a longitudinal study
Authors: Brekke Idunn , Alecu Andreea 
Published: November 2023

Abstract
Background
Raising a child with disabilities requires a significant parental investment that is greater than that required by typically developing children. Previous studies have shown that parents caring for a child with a disability experience a range of health problems, particularly the mothers. However, few of these studies have controlled for maternal health prior to birth.

Methods
This study used a sample from the Norwegian administrative register that comprised all children born between 2009 and 2015. We followed the mothers and their children for 11 years, between 2009 and 2019. The outcome variable was the mothers’ physical and mental health, which was assessed using specific ICD-10 diagnoses recorded in the Norwegian Patient Register (NPR). The data included information on the mothers’ health before and after the birth of their first child, enabling us to control for maternal health prior to birth in our analysis, in addition to socio-demographic characteristics. The analyses of maternal health were performed using multiple logistic regression, and the results are presented on both a relative scale (odds ratio [OR]) and an absolute scale (average marginal effect [AME]), both with 95% confidence intervals.

Results
Mothers caring for a child with a disability have higher odds of having a diagnosis of a musculoskeletal disorder, depression, anxiety, sleeping disorder or migraines than mothers of children without a disability. The differences between the two groups of mothers decrease after adjusting for the characteristics of the children, mothers and families, but remain significant for musculoskeletal disorder, depression, anxiety and sleeping disorder, although the absolute differences are modest.

Conclusion
The findings suggest that mothers caring for a child with a disability are more likely to have health problems than mothers of children without a disability after controlling for maternal health prior to birth. Providing more support for mothers of children with a disability might help to improve their health.
GSTM2 alleviates heart failure by inhibiting DNA damage in cardiomyocytes
Authors: Xu Hongfei , Wang Zhen , Wang Yalin , Pan Shaobo , Zhao Wenting , Chen Miao , Chen Xiaofan , Tao Tingting , Ma Liang , Ni Yiming , Li Weidong 
Published: November 2023

Abstract
Background
Heart failure (HF) seriously threatens human health worldwide. However, the pathological mechanisms underlying HF are still not fully clear.

Results
In this study, we performed proteomics and transcriptomics analyses on samples from human HF patients and healthy donors to obtain an overview of the detailed changes in protein and mRNA expression that occur during HF. We found substantial differences in protein expression changes between the atria and ventricles of myocardial tissues from patients with HF. Interestingly, the metabolic state of ventricular tissues was altered in HF samples, and inflammatory pathways were activated in atrial tissues. Through analysis of differentially expressed genes in HF samples, we found that several glutathione S-transferase (GST) family members, especially glutathione S-transferase M2-2 (GSTM2), were decreased in all the ventricular samples. Furthermore, GSTM2 overexpression effectively relieved the progression of cardiac hypertrophy in a transverse aortic constriction (TAC) surgery-induced HF mouse model. Moreover, we found that GSTM2 attenuated DNA damage and extrachromosomal circular DNA (eccDNA) production in cardiomyocytes, thereby ameliorating interferon-I-stimulated macrophage inflammation in heart tissues.

Conclusions
Our study establishes a proteomic and transcriptomic map of human HF tissues, highlights the functional importance of GSTM2 in HF progression, and provides a novel therapeutic target for HF.
The effects of construction vibration on stone cultural relics: a case study from the Qingdao Museum
Authors: Xu Weixiao , Zhao Jixing , Yang Weisong , Yu Dehu , Qiu Lingling , Chen Zhenlong , Qiu Yusheng 
Published: November 2023

Abstract
The potential impact of vibration from nearby construction on four ancient stone statues in the Qingdao Museum was studied. Simulated but full-scale drilling, excavation and impact breaking were conducted to gather ground motion data which were used to prepare incremental dynamic time histories. The four stone statues were modeled numerically and the models were used to estimate the statues’ maximum tensile stress, maximum strain and maximum shear stress in response to the time histories. The most vulnerable parts of the statue are thus identified, and vibration limits were proposed.