bluuebunny/crossref_metadata_2025_split huggingface dataset:
PAM variants in patients with thyrotrophinomas, cyclical Cushing’s disease and prolactinomas
Authors: De Sousa Sunita M. C. , Shen Angeline , Yates Christopher J. , Clifton-Bligh Roderick , Santoreneos Stephen , King James , Toubia John , Trivellin Giampaolo , Lania Andrea G. , Stratakis Constantine A. , Torpy David J. , Scott Hamish S. 
Published: November 2023

IntroductionGermline loss-of-function variants in PAM, encoding peptidylglycine α-amidating monooxygenase (PAM), were recently discovered to be enriched in conditions of pathological pituitary hypersecretion, specifically: somatotrophinoma, corticotrophinoma, and prolactinoma. PAM is the sole enzyme responsible for C-terminal amidation of peptides, and plays a role in the biosynthesis and regulation of multiple hormones, including proopiomelanocortin (POMC).MethodsWe performed exome sequencing of germline and tumour DNA from 29 individuals with functioning pituitary adenomas (12 prolactinomas, 10 thyrotrophinomas, 7 cyclical Cushing’s disease). An unfiltered analysis was undertaken of all PAM variants with population prevalence &lt;5%.ResultsWe identified five coding, non-synonymous PAM variants of interest amongst seven individuals (six germline, one somatic). The five variants comprised four missense variants and one truncating variant, all heterozygous. Each variant had some evidence of pathogenicity based on population prevalence, conservation scores, in silico predictions and/or prior functional studies. The yield of predicted deleterious PAM variants was thus 7/29 (24%). The variants predominated in individuals with thyrotrophinomas (4/10, 40%) and cyclical Cushing’s disease (2/7, 29%), compared to prolactinomas (1/12, 8%).ConclusionThis is the second study to demonstrate a high yield of suspected loss-of-function, predominantly germline, PAM variants in individuals with pathological pituitary hypersecretion. We have extended the association with corticotrophinoma to include the specific clinical entity of cyclical Cushing’s disease and demonstrated a novel association between PAM variants and thyrotrophinoma. PAM variants might act as risk alleles for pituitary adenoma formation, with a possible genotype-phenotype relationship between truncating variants and altered temporal secretion of cortisol.
The association of relative humidity and air pollution interaction on lung function in adolescents
Authors: Areal Ashtyn T. , Singh Nidhi , Zhao Qi , Berdel Dietrich , Koletzko Sibylle , von Berg Andrea , Gappa Monika , Heinrich Joachim , Standl Marie , Schikowski Tamara 
Published: November 2023

BackgroundRelative humidity (RH) and air pollution significantly affect respiratory health. However, how RH and air pollution interact and modify each other and affect lung function in adolescence is largely unknown. This study assesses the interactive association of RH and air pollution on lung function, i.e. forced vital capacity (FVC) and forced expiratory volume in one second (FEV1), in German adolescents.MethodsA total of 2,116 participants with available spirometry measurements (z-scores of FEV1 and FVC) were included from the 15-year follow-up of the German GINIplus and LISA birth cohort. Daily environmental exposure data included RH, ozone (O3), nitrogen dioxide (NO2), and particulate matter &lt;2.5 µm (PM2.5). Linear models were fitted to assess the main associations of RH, air pollution, and maximum temperature (Tmax) an interaction term between one-day moving average of RH (Lag01) and a categorical air pollution term was then included to assess the modifying association of air pollution on RH and was adjusted for study location, season and chronic respiratory disease (CRD) status. Effect modification was performed for sex and CRD. The results are presented as beta coefficients (ß) and 95% confidence intervals (95% CI).ResultsA 5% increase in RH was associated with an increase in FEV1 (ß = 0.040–0.045; 95% CI: 0.008 to 0.076) and FVC (ß = 0.007–0.012; 95% CI: −0.023 to 0.045) in the main associations models. In the interaction models, there was a significant decrease in FEV1 (ß = −0.211; 95% CI: −0.361 to −0.062) and FVC (ß = −0.258; 95% CI: −0.403 to −0.0113) per 5% increase in RH on high O3 days compared to the reference category; while there was a non-significant trend towards a decrease in FEV1 on high PM2.5 and NO2 days. Female participants were more likely to experience a decrease in FEV1 than male participants on high-pollution days.ConclusionsAir pollution interacts and modifies the association of weather on lung function in this cohort of German adolescents. An increase in RH on high air pollution exposure days was associated with a decrease in lung function in German adolescents. Female participants were more sensitive to RH and air pollution.
Investigating the behavior of an expansive soil slope in critical linear infrastructure in China using multi-temporal InSAR
Authors: Jiang Zhen , Wu Zigui , Li Ziyuan , Hu Jun , Wu Yuwei , Ou Liye , Zhang Tongyuan 
Published: November 2023

One of the most significant pieces of linear infrastructure in China is the Middle Route of the South-to-North Water Diversion Project (MR-SNWDP), a large section of which consists of an expansive soil slope (ESS) that threatens the safety of the canal. Here, we prepared 144 Sentinel-1 data from May 2017 to July 2022 to study the behavior of the ESS in the canal section in Huixian City in the MR-SNWDP. Then, the Elastoplastic Deformation model under Wetting and Heating Effects (EDWHE) was employed to accurately characterize the displacement of the ESS. The InSAR results illustrate that the unstable zones tend to be small and are distributed along the canal slope, with the magnitude of deformations generally no more than 20 mm/year. Additionally, their deformation time series generally accumulate exponentially and evolve in a significant pattern of seasonal swelling and shrinkage. We observed that the slope movements significantly accelerated during the period when extreme rainfall occurred around 22 July 2021. Affected by satellite imagery and the geometric structure of the slope, the magnitudes and evolving trends of LOS deformation vary with different aspects of the slope sections. Then, the elastic swelling-shrinkage deformations were derived through the EDWHE model, of which the uplift or settlement was mainly dependent on geological and meteorological conditions. Moreover, the active zone depths of the ESS were retrieved using an InSAR-based lag-time approach and clearly reflected their distribution pattern. In this investigation, the behavior of the ESS in the study area was quantitatively analyzed using InSAR, and the results provide support for designing protective slope treatments and keeping the canal safe in the MR-SNWDP.
How fintech affects financial sustainability in the electric power industry?—evidence from Chinese companies
Authors: Qin Li , Lu Meihua 
Published: November 2023

Introduction: The financial sustainability of the electric power industries is of significant practical significance for achieving carbon neutrality and peak carbon emissions.Methods: We innovatively use web crawler technology to obtain keywords related to fintech in the search index and constructs a regional fintech indicator system. Based on this indicator system, we explore the impact of fintech on the financial sustainability of the electric power industry by panel regression model. The result shows that fintech significantly improved the financial sustainability of electric power companies. Further evidence indicates that fintech can promote financial sustainable development by enhancing corporate risk-taking ability, increasing operating income, and alleviating financing constraints. Heterogeneity analysis indirectly proves that compared to state-owned electric power enterprises, private electric power enterprises face a more severe financing environment. But private enterprises can obtain more credit funds through new financing channels opened by financial technology. So, the role of fintech in alleviating the phenomenon of ownership discrimination in the financial system cannot be ignored. In addition, we also find that fintech is more significant in helping small and medium-sized electric-power enterprises in financial sustainability, while it is less helpful for large enterprises.Discussion: In the context of the fusion development of technology and financial markets, the research conclusions of this article provide important references for governments, enterprises, and traditional financial institutions to make corresponding reforms.
An overview of solid waste management and privatization in kingdom of Bahrain
Authors: Fahmi Jamal Hala , Abd El-Fattah Ahmed 
Published: November 2023

Waste management (WS) has been identified as one of Bahrain’s most pressing concerns owing to the potential negative consequences for the country. Data collected over the last 30 years show considerable growth in waste amount created in the country throughout the sectors of residential, commercial, institutional, building and demolition, municipal services, public places, treatment plant sites, manufacturing, and crop residues. The restricted location space, characterised by Bahrain’s tiny geographic area, is the most significant element contributing to the difficulty of controlling the government’s rising waste buildup and developing Sustainable Waste Management systems. As a result, the study focuses on the rising have to upgrade the government’s present municipal solid wastes Management (MSWM) system. Which the study discussed the municipal solid wastes Management in Bahrain that was consisted of Solid Waste generation, composition, and characteristics and also discussed the waste collection, transportation, disposal and regulations and institutions in the Kingdom of Bahrain. Furthermore, The study focused on the general views about waste management and privatization. Also, discussed MSWM and sustainable development goals and privatization as a private sector in the context of SDGs.
Single-cell transcriptomics reveals peripheral immune responses in non-segmental vitiligo
Authors: Yang Pengju , Luan Mei , Li Weizhe , Niu Mengtian , He Qiannan , Zhao Yixin , Chen Jianan , Mao Binyue , Mou Kuanhou , Li Pan 
Published: November 2023

BackgroundVitiligo is a common autoimmune depigmented dermatology due to destruction of melanocytes. Much evidence suggests that vitiligo is associated with systemic immune activation. Previous studies have focused on immune cell infiltration in and around lesion areas, but few studies have investigated the cell types and function of circulating immune cells in peripheral blood. Here, single cell RNA-sequencing (scRNA-seq) was used to investigate the mechanisms of peripheral immune responses in vitiligo patients.MethodsPeripheral blood was collected from five patients with progressive non-segmental vitiligo and three healthy controls. Peripheral blood mononuclear cells (PBMCs) were obtained by Ficoll-Paque density gradient centrifugation, and scRNA-seq was performed on isolated cell populations to obtain single cell transcriptomes and characterize important genes and intracellular signaling pathways. The key findings were validated with qPCR and flow cytometry assays.ResultsWe identified 10 major cell types by scRNA-seq. Among these cell types, neutrophils were specifically observed in our scRNA-seq data from PBMCs. Peripheral blood effector CD8+ T cells from vitiligo patients did not show significant differences at the transcriptome level compared with healthy controls, whereas regulatory T cells showed pro-inflammatory TH1-like properties. Innate immune cells, including natural killer cells and dendritic cells, showed increased antigen processing and presentation as well as upregulated interferon responses. B cells, monocytes, and neutrophils all showed activation. B cells, especially memory B cells, had upregulated expression of genes related to humoral immunity. Monocytes showed production of proinflammatory cytokines and chemokines. Neutrophils showed strong chemokine ligand-receptor (L-R) pair (CXCR8-CXCR2) autocrine signaling pathway.ConclusionThis study revealed the genetic profile and signaling pathway characteristics of peripheral blood immune cells in vitiligo patients, providing new insights into its pathogenesis, which may facilitate identification of potential therapeutic targets.
Bw4 ligand and direct T-cell receptor binding induced selection on HLA A and B alleles
Authors: Levi Reut , Levi Lee , Louzoun Yoram 
Published: November 2023

IntroductionThe HLA region is the hallmark of balancing selection, argued to be driven by the pressure to present a wide variety of viral epitopes. As such selection on the peptide-binding positions has been proposed to drive HLA population genetics. MHC molecules also directly binds to the T-Cell Receptor and killer cell immunoglobulin-like receptors (KIR).MethodsWe here combine the HLA allele frequencies in over six-million Hematopoietic Stem Cells (HSC) donors with a novel machine-learning-based method to predict allele frequency. ResultsWe show for the first time that allele frequency can be predicted from their sequences. This prediction yields a natural measure for selection. The strongest selection is affecting KIR binding regions, followed by the peptide-binding cleft. The selection from the direct interaction with the KIR and TCR is centered on positively charged residues (mainly Arginine), and some positions in the peptide-binding cleft are not associated with the allele frequency, especially Tyrosine residues. DiscussionThese results suggest that the balancing selection for peptide presentation is combined with a positive selection for KIR and TCR binding.
Prognostic value of body composition on survival outcomes in melanoma patients receiving immunotherapy
Authors: Kuang Tianrui , Zhang Lilong , Qiu Zhendong , Zhang Yanbing , Wang Weixing 
Published: November 2023

ObjectiveThe influence of body composition on the effectiveness of immune checkpoint inhibitors (ICIs) in patients with melanoma is still uncertain in clinical practice. Therefore, the objective of this study was to examine the potential association between body composition and clinical outcomes in patients with melanoma undergoing ICIs treatment.MethodsA systematic literature search was performed across several databases, including PubMed, Embase, Cochrane Library and Google Scholar, to gather relevant studies. The primary outcomes of interest were overall survival (OS) and progression-free survival (PFS), assessed by hazard ratios (HR). Secondary outcomes, such as adverse events (AE), were evaluated using odds ratios (OR).ResultsThis meta-analysis comprised ten articles involving a total of 1,283 patients. Systemic analysis of all collected evidence revealed that body composition, including low skeletal muscle index (SMI) (OS: HR = 1.66, 95% CI = 1.13-2.43, p = 0.010; PFS: HR = 1.28, 95% CI = 1.06-1.55, p = 0.009), high subcutaneous adipose tissue density (SMD) (OS: HR = 1.93, 95% CI = 1.09-3.44, p = 0.025; PFS: HR = 1.31, 95% CI = 1.06-1.63, p = 0.012), and sarcopenia (OS: HR = 1.25, 95% CI = 1.03-1.51, p = 0.022; PFS: HR = 1.25, 95% CI = 1.03-1.51, p = 0.022), were significantly associated with OS and PFS in melanoma patients treated with ICIs. However, these markers did not show a significant association with treatment-related adverse events. Interestingly, no significant correlation was found between visceral fat index (VFI) (OS: HR = 0.71, 95% CI = 0.29-1.76, p = 0.462; PFS: HR = 0.98, 95% CI = 0.93-1.02, p = 0.274) and OS or PFS in melanoma patients under ICIs treatment.ConclusionBody composition was found to be associated with decreased treatment response and lower long-term efficacy in patients with melanoma undergoing immune checkpoint inhibitor (ICI) therapy. However, it is important to note that body composition did not appear to contribute to increased incidence of adverse events in these patients.
New insight into the causal relationship between Graves’ disease liability and drug eruption: a Mendelian randomization study
Authors: Wu Dide , Liu Boyuan , Xian Wei , Yang Yuxin , Li Jinjian , Hong Shubin , Li Yanbing , Xiao Haipeng 
Published: November 2023

BackgroundGraves’ disease (GD) and drug eruption are closely associated and frequently observed in the clinical setting. However, it remains unclear whether a causal relationship exists between these two conditions. The aim of the study is to investigate whether GD is causal to drug eruptions using two-sample Mendelian randomization.MethodsWe launched a two-sample MR to investigate whether GD is causal to drug eruption using Genome-wide association study (GWAS) summary data from Biobank Japan and FinnGen. Genetic variants were used as instrumental variables to avoid confounding bias. Statistical methods including inverse variance weighted (IVW), weighted median, MR-Egger, and MR-PRESSO were conducted to identify the robustness of the causal effect.ResultsGenetically predicted GD may increase the risk of drug eruption by 30.3% (OR=1.303, 95% CI 1.119-1.516, p&lt;0.001) in the Asian population. In European populations, GD may increase the generalized drug eruption by 15.9% (OR=1.159, 95%CI 0.982-1.367, p=0.080).ConclusionsWe found GD is potentially causal to drug eruption. This finding expanded the view of the frequently observed co-existence of GD and adverse drug reactions involving the skin. The mechanism remains for further investigation.
A closer look at weight loss interventions in primary care: a systematic review and meta-analysis
Authors: Perreault Leigh , Kramer E. Seth , Smith Peter C. , Schmidt Darren , Argyropoulos Christos 
Published: November 2023

PurposeThe major aims were to quantify patient weight loss using various approaches adminstered by a primary care provider for at least 6 months and to unveil relevant contextual factors that could improve patient weight loss on a long-term basis.MethodsA systematic review and meta-analysis was conducted using Cochrane Central Register of Controlled Trials, MEDLINE, EMBASE, Scopus, and Web of Science from inception to December 5, 2022. COVIDENCE systematic review software was used to identify and abstract data, as well as assess data quality and risk of bias.ResultsSeven studies included 2,187 people with obesity testing (1) anti-obesity medication (AOM), (2) AOM, intensive lifestyle counseling + meal replacements, and (3) physician training to better counsel patients on intensive lifestyle modification. Substantial heterogeneity in the outcomes was observed, as well as bias toward lack of published studies showing no effect. The random effect model estimated a treatment effect for the aggregate efficacy of primary care interventions −3.54 kg (95% CI: −5.61 kg to −1.47 kg). Interventions that included a medication component (alone or as part of a multipronged intervention) achieved a greater weight reduction by −2.94 kg (p &lt; 0.0001). In all interventions, efficacy declined with time (reduction in weight loss by 0.53 kg per 6 months, 95% CI: 0.04–1.0 kg).ConclusionWeight loss interventions administered by a primary care provider can lead to modest weight loss. Weight loss is approximately doubled if anti-obesity medication is part of the treatment. Nevertheless, attenuated weight loss over time underscores the need for long-term treatment.Systematic review registration[https://www.crd.york.ac.uk/prospero/ CRD4202121242344], identifier (CRD42021242344).
Utilization of immediate postpartum intrauterine device and its associated factors among women who gave birth in public hospitals in West Wollega Zone, Oromia, Ethiopia
Authors: Guye Ararso Hordofa , Kanea Efa Bayissa , Nigussie Tadesse , Girma Derara , Shambi Dame Banti 
Published: November 2023

BackgroundThe utilization of an immediate postpartum intrauterine device (IPPIUD) during the postpartum period helps women to realize their desire for birth spacing and prevent unplanned pregnancies. However, many postpartum mothers do not undergo immediate postpartum family planning in developing countries, including Ethiopia, which consequently increases the risk of unplanned pregnancies and pregnancy-related complications.ObjectiveTo assess the utilization of an IPPIUD and its associated factors among women who gave birth in public hospitals in the West Wollega Zone in 2022.MethodsAn institutional-based cross-sectional study was conducted among 605 postpartum mothers who delivered their baby between 15 April and 15 May 2022 at public hospitals in the West Wollega Zone, Ethiopia. A systematic random sampling technique was used to select study subjects, and the data were collected using an interviewer-administered structured questionnaire, which was then entered into EpiData Entry version 4.6 and exported to the Statistical Package for Social Science version 26 for analysis. The variable with a p-value of ≤ 0.05 with an adjusted odds ratio and 95% confidence intervals was used to declare statistically significant association.ResultThe prevalence of the utilization of the IPPIUD among respondents who gave birth in West Wollega public hospitals within 48 h was 27.2% (95% CI, 23.7–30.9). Age ranging between 25 and 34 years (AOR = 4.27, 95%CI:1.68–10.85), early initiation of antenatal care (ANC; AOR = 1.91, 95%CI: 2.8–10.01), adequate knowledge of IPPIUD (AOR = 4.71, 95%CI: 2.63–6.63), favorable attitude toward family planning (AOR = 3.35, 95%CI: 2.07–5.44), planning of pregnancy (AOR = 2.21, 95%CI: 1.37–4.11), and counseling (AOR = 4.14, 95%CI: 2.60–6.68) were factors that were significantly associated with the utilization of IPPIUD.ConclusionAccording to the 2019 Ethiopia Mini Demographic and Health Survey (mini EDHS 2019), the utilization of an immediate postpartum intrauterine device was low, that is, 35%. Age of respondents, early initiation of antenatal care, favorable attitude toward, planning of pregnancy, adequate knowledge of, and counseling on IPPIUD utilization were significantly associated with the mother’s utilization of immediate postpartum intrauterine device. Thus, the zonal health office and health professionals should work toward encouraging all the women who gave birth at public hospitals to the utilization of immediate postpartum intrauterine devices by improving awareness among the women in that specific zone through counseling to increase the uptake of IPPIUD.
Genomic analyses of Burkholderia respiratory isolates indicates two evolutionarily distinct B. anthina clades
Authors: Pham Amy , Volmer James G. , Chambers Daniel C. , Smith Daniel J. , Reid David W. , Burr Lucy , Wells Timothy J. 
Published: November 2023

IntroductionThe Burkholderia cepacia complex (BCC) encompasses a group of at least 22 genetically distinct gram-negatives bacterial species ubiquitous in nature. Recognised as a group of genetically and phenotypically flexible species, the BCC inhabits diverse ecological niches causing both plant and human diseases. Comparative genomic analysis provides an in depth understanding into the population biology, phylogenetic relationship, and genomic architecture of species.MethodsHere, we genomically characterise Burkholderia anthina isolated from patients with chronic lung infections, an understudied pathogen within the Burkholderia cepacia complex.ResultsWe demonstrate that B. anthina is polyphyletic and constitutes two distinct evolutionary lineages. Core- and pan-genome analyses demonstrated substantial metabolic diversity, with B. anthina Clade I enriched in genes associated with microbial metabolism in diverse environments, including degradation of aromatic compounds and metabolism of xenobiotics, while B. anthina Clade II demonstrated an enhanced capability for siderophore biosynthesis.DiscussionBased on our phylogenetic and comparative genomic analyses, we suggest stratifying B. anthina to recognise a distinct species harbouring increased potential for iron metabolism via siderophore synthesis, for which we propose the name Burkholderia anthinoferum (sp. nov.).