bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical characteristics and follow-up of complex arrhythmias associated with RYR2 gene mutations in children
Authors: Wang Yefeng , Yang Yufan , Xu Ningan , Xiao Yunbin , Zuo Chao , Chen Zhi 
Published: May 2024

ObjectiveThe aim of this study was to analyze the diagnosis, treatment, and follow-up of six cases of complex arrhythmias associated with RYR2 gene mutations in children.MethodA retrospective analysis was conducted on six children diagnosed with complex arrhythmias associated with RYR2 gene mutations. The study included an analysis of the age of onset, initial symptoms, electrocardiographic characteristics, genetic results, treatment course, and follow-up outcomes.ResultsAmong the six cases included in the study, there were four males and two females, with an average age of 3.5 ± 0.5 years. The average time from initial symptoms to diagnosis was 2.7 ± 1.3 years. The most common clinical manifestation was syncope, with exercise and emotions being the main triggers. All six children had de novo missense mutations in the RYR2 gene identified through whole-exome sequencing. In Holter electrocardiogram, atrial arrhythmias and sinoatrial node dysfunction were commonly observed in younger children. Four patients underwent exercise stress testing, with two experiencing bidirectional ventricular premature contractions and two experiencing bidirectional ventricular tachycardia and polymorphic ventricular tachycardia. Initial treatment involved oral propranolol or metoprolol. If arrhythmias persisted, flecainide or propafenone was added as adjunctive therapy. Two patients received permanent cardiac pacemaker treatment (single chamber ventricular pacemaker, VVI). All patients survived, with three experiencing occasional syncope during treatment. The follow-up period ranged from 12 to 37 months, with an average follow-up time of 24.3 ± 3.7 months.ConclusionComplex arrhythmias associated with RYR2 gene mutations in children can present with various clinical manifestations. Atrial arrhythmias combined with sinoatrial node dysfunction are commonly observed in younger children, and the combination of pharmacological therapy and cardiac pacemaker treatment yields favourable treatment outcomes.
Evaluation of HLA typing content of next-generation sequencing datasets from family trios and individuals of arab ethnicity
Authors: Dashti Mohammed , Malik Md Zubbair , Nizam Rasheeba , Jacob Sindhu , Al-Mulla Fahd , Thanaraj Thangavel Alphonse 
Published: May 2024

Introduction: HLA typing is a critical tool in both clinical and research applications at the individual and population levels. Benchmarking studies have indicated HLA-HD as the preferred tool for accurate and comprehensive HLA allele calling. The advent of next-generation sequencing (NGS) has revolutionized genetic analysis by providing high-throughput sequencing data. This study aims to evaluate, using the HLA-HD tool, the HLA typing content of whole exome, whole genome, and HLA-targeted panel sequence data from the consanguineous population of Arab ethnicity, which has been underrepresented in prior benchmarking studies.Methods: We utilized sequence data from family trios and individuals, sequenced on one or more of the whole exome, whole genome, and HLA-targeted panel sequencing technologies. The performance and resolution across various HLA genes were evaluated. We incorporated a comparative quality control analysis, assessing the results obtained from HLA-HD by comparing them with those from the HLA-Twin tool to authenticate the accuracy of the findings.Results: Our analysis found that alleles across 29 HLA loci can be successfully and consistently typed from NGS datasets. Clinical-grade whole exome sequencing datasets achieved the highest consistency rate at three-field resolution, followed by targeted HLA panel, research-grade whole exome, and whole genome datasets.Discussion: The study catalogues HLA typing consistency across NGS datasets for a large array of HLA genes and highlights assessments regarding the feasibility of utilizing available NGS datasets in HLA allele studies. These findings underscore the reliability of HLA-HD for HLA typing in underrepresented populations and demonstrate the utility of various NGS technologies in achieving accurate HLA allele calling.
A sea of birds: first bird population assessments in the Saudi Arabian Red Sea
Authors: Calabrese Licia , Riordan Julie Ann , Lloyd Imogen Anne , Foster Alexa Darby , Collier Thomas Edward , Chambon Johannes Alexandre , Aljohani Yasir Wusayl , Alhamdi Essa Ali , Beaumont Patrick Rowan , Williams Ivor Douglas , Al-Attas Omar 
Published: May 2024

IntroductionSeabirds and other insular birds are an important part of marine ecosystems and are increasingly threatened worldwide. Phenology, abundance, distribution, and breeding success are important baseline parameters needed to evaluate population trends and dynamics, identify biodiversity hotspots and potential breeding sites, and assess habitat selection. In the Red Sea basin, reliable and complete data on birds are lacking for islands in most of the Important Bird Areas (IBA). Such data are now especially important since development projects have started at several of these locations. Here, we assess the distribution, abundance, phenology, and population trends of 13 bird species that breed in the Duba Islands, Al Wajh Bank, and Al Lith Islands. Breeding success and habitat selection for six species were also assessed.MethodsBetween December 2020 and August 2023, more than 90 islands were visited multiple times with different frequencies. All nests were counted, and the area occupied by the different colonies was georeferenced. Breeding success was assessed by visiting selected colonies multiple times until the chicks were ready to fledge. Habitat selection was determined by analyzing the habitat found in the georeferenced colonies.ResultsMore than 25,000 nests were counted each year, mainly in the summer, on more than 75 islands. Of the 13 species studied, the most abundant and widespread species was the White-cheeked tern, and the second most widespread was the Osprey.DiscussionWe estimate that the Al Wajh Bank hosts the following percentages of global breeding populations: Crab plover: 5%, Sooty gull: 17%–35%, White-eyed gull: 15%, Bridled tern: 1%, White-cheeked tern: 4%, and Lesser crested tern: 2%, making the area a regional and global hotspot for these species. Some of the islands occupied by breeding birds are slated for development for tourism activities as part of the Kingdom’s tourism expansion plans. At the same time, there are several ambitious conservation programs underway in these areas. To be effective, such programs require reliable and comprehensive data of the kind presented here.
Medication regimen complexity and its impact on medication adherence in patients with multimorbidity at a comprehensive specialized hospital in Ethiopia
Authors: Kassaw Abebe Tarekegn , Sendekie Ashenafi Kibret , Minyihun Amare , Gebresillassie Begashaw Melaku 
Published: May 2024

BackgroundMedication regimen complexity (MRC) is suspected to hinder medication adherence in patients with multiple illnesses. Despite this, the specific impact on Ethiopian patients with multimorbidity is unclear. This study assessed MRC and its impact on medication adherence in patients with multimorbidity.MethodsA hospital-based cross-sectional study was conducted on patients with multimorbidity who had been followed at the University of Gondar Comprehensive and Specialized Hospital (UoGCSH), Ethiopia, from May to July 2021. Medication complexity was measured using the validated Medication Regimen Complexity Index (MRCI) tool, and the Adherence in Chronic Diseases Scale (ACDS) was used to measure medication adherence. Pearson’s chi-square test was used to examine associations between MRCI levels and medication adherence. Ordinal logistic regression analysis was used to determine the impact of MRC and other associated variables on medication adherence. Statistical significance was determined using the adjusted odds ratio (AOR) at p-value &lt;0.05 and its 95% confidence range.ResultsOut of 422 eligible patients, 416 (98.6%) were included in the study. The majority of participants (57.2%) were classified as having a high MRCI score with a mean (±SD) score of 9.7 (±3.4). Nearly half of the patients (49.3%) had low medication adherence. Patients with medium (AOR = 0.43, 95% CI: 0.04, 0.72) and higher (AOR = 0.31, 95% CI: 0.07, 0.79) MRCI levels had lower odds of medication adherence. In addition, monthly income (AOR = 4.59, 95% CI: 2.14, 9.83), follow-up durations (AOR = 2.31, 95% CI: 1.09, 4.86), number of medications (AOR = 0.63, 95% CI: 0.41, 0.97), and Charlson comorbidity index (CCI) (AOR = 0.36, 95% CI: 0.16, 0.83) were significantly associated with medication adherence.ConclusionMedication regimen complexity in patients with multimorbidity was found to be high and negatively impacted the levels of medication adherence. Healthcare providers and other stakeholders should seek interventions aimed at simplifying drug regimen complexity and improving adherence.
The causality between gut microbiota and non-Hodgkin lymphoma: a two-sample bidirectional Mendelian randomization study
Authors: Fu Jinjie , Hao Zheng 
Published: May 2024

BackgroundStudies have indicated an association between gut microbiota (GM) and non-Hodgkin lymphoma (NHL). However, the causality between GM and NHL remains unclear. This study aims to investigate the causality between GM and NHL using Mendelian randomization (MR).MethodsData on GM is sourced from the MiBioGen consortium, while data on NHL and its subtypes is sourced from the FinnGen consortium R10 version. Inverse variance weighted (IVW) was employed for the primary MR analysis method, with methods such as Bayesian weighted Mendelian randomisation (BWMR) as an adjunct. Sensitivity analyses were conducted using Cochran’s Q test, MR-Egger regression, MR-PRESSO, and the “Leave-one-out” method.ResultsThe MR results showed that there is a causality between 27 GMs and NHL. Among them, 20 were negatively associated (OR &lt; 1), and 7 were positively associated (OR &gt; 1) with the corresponding diseases. All 27 MR results passed sensitivity tests, and there was no reverse causal association.ConclusionBy demonstrating a causal link between GM and NHL, this research offers novel ideas to prevent, monitor, and cure NHL later.
Translation and validation of the Myasthenia Gravis Activities of Daily Living Questionnaire: Latvian version
Authors: Grosmane Arta , Roze Ieva , Roddate Marija , Ķauķe Gundega , Žukova Violeta , Glāzere Ieva , Zolovs Maksims , Ķēniņa Viktorija 
Published: May 2024

IntroductionOur aim was to translate, adapt and validate the Myasthenia Gravis Activities of Daily Living scale into the Latvian language and to evaluate this instrument (MG-ADL-L) in terms of construct validity and reliability.MethodsWe enrolled patients with a confirmed MG diagnosis, who could speak Latvian fluently. We performed translation and adaptation according to the cross-cultural adaptation guidelines for self-reported measures. The patients were evaluated by a physician according to the Myasthenia Gravis Foundation of America classification (MGFA) and using the Myasthenia Gravis Composite Score (MGCS). Patients were asked to complete the MG-ADL-L and the 15-item Myasthenia Gravis Quality of Life (MGQOL15) Internal consistency was evaluated based on Cronbach’s α, reproducibility—Cohen’s weighted kappa and construct validity—Spearman’s correlation between the MG-ADL-L and the MGQOL15 and MGCS. We used the Kruskal–Wallis H test to compare the MG-ADL-L score distribution between the MGFA groups.Results38 enrolled patients in the study. There was an acceptable internal consistency (Cronbach’s α = 0.76) and moderate to very good agreement between the test and retest scores (Cohen’s weighted kappa = 0.54 and 0.81). The MG-ADL-L showed a moderate positive correlation with the MGQOL15 (r = 0.5, p = 0.001) and the MGCS (r = 0.62, p &lt; 0.001). There was a significant difference in MG-ADL-L scores between the MGFA groups (p = 0.007).DiscussionThe MG-ADL-L is a valid and reliable self-reported scale to assess and evaluate symptom severity and the impact of the disease on the lives of patients with MG.
Association of dietary inflammatory index with immune-inflammatory biomarkers in rheumatoid arthritis patients: results from NHANES 1999–2018
Authors: Lu Zhiming , Xie Zhiheng , Shen Kaiwei , Wu Xunyuan , Feng Eryou 
Published: May 2024

BackgroundSynovial inflammation is the main reason for joint damage in patients with rheumatoid arthritis (RA). Diet is recognized as one of the therapeutic strategies to control the inflammatory activity in RA. However, few studies have investigated the association between diet and immune-inflammatory biomarkers in RA patients. Our study aims to examine the correlation between dietary inflammatory potential and systemic immune-inflammation Index (SII), neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), and lymphocyte-monocyte ratio (LMR) in the RA population.Materials and methodsThe National Health and Nutrition Examination Survey (NHANES) was the data source utilized in this study, spanning from 1999 to 2018. The study encompassed 2,500 RA participants in total. The dietary inflammatory potential was calculated by the dietary inflammation index (DII) score based on dietary recall interviews. The generalized multiple linear regression analyses were used to evaluate the relationship between DII and immune-inflammatory markers. Furthermore, subgroup analyses and restricted cubic spline models were performed.ResultsAfter full adjustments, there were significant positive correlations between DII levels and SII/NLR in RA patients (SII, β: 14.82, 95% CI: 5.14–24.50, p = 0.003; NLR, β: 0.04, 95% CI: 0.01–0.08, p = 0.005). It was noteworthy that inconsistent results were observed in the association between DII and SII as well as NLR in subgroups of red blood cell levels (Interaction p-value &lt;0.001).ConclusionPro-inflammatory dietary status in the RA population is significantly positively correlated with SII and NLR, influenced by variations in red blood cell levels.
Efficacy and inflammatory levels (IL-6, IL-10) of adjuvant application of vitamin-A in the treatment of pediatric Mycoplasma pneumoniae pneumonia: a systematic review and meta-analysis
Authors: Cao Limei , Lin Mali , Sheng Fang , Chen Buqing , Hu Chuanze 
Published: May 2024

ObjectiveThe purpose of this study is to evaluate the efficacy of Vitamin A (VitA) as an adjuvant therapy for pediatric Mycoplasma Pneumoniae Pneumonia (MPP) through meta-analysis, and to investigate its impact on inflammation levels (IL-6, IL-10), in order to explore the role of VitA in pediatric MPP.MethodsUsing a systematic literature search method, relevant research literature is searched, and RCT studies that meet the requirements are selected based on preset inclusion and exclusion criteria. Then, a quality evaluation was conducted on the included literature, and meta-analysis was used to calculate the combined effect values of mortality rate, hospital stay, lung rale disappearance time, cough duration, fever duration, IL-6 and IL-10 levels, and heterogeneity analysis was conducted. The levels of IL-6 and IL-10 represent the inflammatory levels in pediatric MPP patients, and exploring their changes has significant implications for the anti-inflammatory effect of treatment.ResultsA total of 10 RCT studies were included, with a total sample size of 1,485, including 750 cases in the control group and 735 cases in the observation group. The meta-analysis results of this study showed that there was a significant difference in the total clinical efficacy of using VitA adjuvant therapy compared to the control group without VitA [OR = 3.07, 95%CI = (2.81, 4.27)], P &lt; 0.05. However, there was no significant difference in the adverse reaction rate between the use of VitA as an adjuvant therapy and the control without VitA [OR = 1.17, 95%CI = (0.61, 2.27)], P &gt; 0.05. At the same time, the hospitalization time [MSD = −0.86, 95% CI = (−1.61, −0.21)], lung rale disappearance time [MSD = −0.78, 95%CI = (−1.19,−0.51)], cough duration [MSD = −1.07, 95%CI = (−1.41, −0.71)], and fever duration [MSD = −0.47, 95%CI = (−0.72, −0.23)] using VitA as an adjuvant treatment were obviously lower. In addition, the meta-analysis outcomes also showed that the use of VitA adjuvant therapy can significantly reduce IL-6 [MSD = −1.07, 95%CI = (−1.81, −0.27)] and IL-10 [MSD = −0.13, 95%CI = (−0.31, 0.12)] levels. This indicates that the application of VitA in pediatric MPP also has the effect of reducing inflammatory response.ConclusionBased on the meta-analysis results, VitA adjuvant therapy can significantly improve the clinical symptoms of pediatric MPP patients, shorten hospitalization time, promote the disappearance of lung rales, and alleviate cough and fever symptoms. In addition, VitA adjuvant therapy can effectively reduce inflammation levels, indicating its potential role in inhibiting inflammatory responses. In clinical practice, VitA adjuvant therapy for pediatric MPP can be promoted as a potential treatment option.
Chronobiology of Viscum album L.: a time series of daily metabolomic fingerprints spanning 27 years
Authors: Guglielmetti Greta , Baumgartner Stephan , Scherr Claudia , Martin David , Tournier Alexander L. 
Published: May 2024

Introduction: European mistletoe (Viscum album L.) has been gaining increasing interest in the field of oncology as a clinically relevant adjunctive treatment in many forms of cancer. In the field of phytopharmacology, harvesting time is pivotal. In the last century, a form of metabolomic fingerprinting based on pattern formation was proposed as a way to determine optimal harvesting times to ensure high quality of mistletoe as raw material for pharmaceutical use. In order to further evaluate the information obtained with this metabolomic fingerprinting method, we analysed a large time series of previously undigitised daily mistletoe chromatograms dating back to the 1950s.Methods: These chromatograms were scanned and evaluated using computerized image analysis, resulting in 12 descriptors for each individual chromatogram. We performed a statistical analysis of the data obtained, investigating statistical distributions, cross-correlations and time self-correlations.Results: The analysed dataset spanning about 27 years, contains 19,037 evaluable chromatograms in daily resolution. Based on the distribution and cross-correlation analyses, the 12 descriptors could be clustered into six independent groups describing different aspects of the chromatograms. One descriptor was found to mirror the annual rhythm being well correlated with temperature and a phase shift of 10 days. The time self-correlation analysis showed that most other descriptors had a characteristic self-correlation of ∼50 days, which points to further infradian rhythms (i.e., more than 24 h).Discussion: To our knowledge, this dataset is the largest of its type. The combination of this form of metabolomic fingerprinting with the proposed computer analysis seems to be a promising tool to characterise biological variations of mistletoe. Additional research is underway to further analyse the different rhythms present in this dataset.
Effect of emotional priming on eating willingness of women with restrictive diet
Authors: Lv Yuchen , Chen Ying , Xiong Weirui 
Published: May 2024

BackgroundThere is controversy regarding whether negative or positive emotions have a greater impact on the eating behavior of restrictive dieters. Moreover, it is unclear whether unconscious emotional processing can predict the eating behavior of restrictive dieters. This study investigated the effects of conscious and unconscious emotional processing on the dietary behavior of women with restrictive diet.MethodsFemale student participants (N = 600) completed the Dutch Eating Behavior Questionnaire to screen 60 each of successful, unsuccessful restrictive and unrestricted eaters. They were randomly and equally divided into two groups for supra-threshold and subliminal emotional priming and carried out a behavioral task to index eating intentions.ResultsThe restrictive dieters increase their willingness to eat when they are in a positive mood, even if they are not consciously aware of their happiness. Furthermore, the unsuccessful restrictive dieters are more intense.ConclusionThis study presents empirical evidence on the impact of positive emotions on the eating intention of restrictive dieters and the cognitive characteristics of unsuccessful restrictive dieters. Additionally, it offers guidance for unsuccessful restrictive dieters to personalize their treatment goals.
A time to reflect: deviations from the balanced time perspective are associated with hypomentalization
Authors: Winquist Anne , Rönnlund Michael 
Published: May 2024

IntroductionPoor mentalization, or lack of capacity to reflect on self and others in terms mental states, thoughts, and feelings, and time perspective biases were both related to mental disorders and lower wellbeing in separate studies. Expanding one prior study, we examined the relationship of mentalization and time perspective, including a measure known as deviations from the balanced time perspective (DBTP) that summarizes time perspective biases across the past, present, and future time frames.MethodA convenience sample of 258 participants responded to a version of the Reflective Functioning Questionnaire (RFQ-8) and a six-dimensional version of the Zimbardo Time Perspective Inventory (S-ZTPI). Given recent evidence that the original two-factor structure of the RFQ may need to be reconsidered, we used confirmatory factor analyses (CFA) to compare alternative models for RFQ as a first step.ResultsIn line with several recent studies, the CFA favored a unitary model of RFQ-8 reflecting hypomentalization (or uncertainty). The total score showed significant associations with Past Negative, Present Fatalistic, and Future Negative dimensions of S-ZTPI, while hypomentalization was negatively associated with Future Positive. Of major interest, DBTP and hypomentalization showed a strong positive correlation (r = 0.64 for latent constructs; r = 0.62 in an adjusted model).ConclusionDeviations from the balanced time perspective were substantially related to hypomentalization. Further research is required to examine the generalizability of the finding (e.g., to measures of mentalization focused on others) and to provide a better understanding of the theoretical basis of the link. Potentially shared associations in development (e.g., attachment style) and mindfulness, that may influence both time perspective and mentalization is of interest in this regard.