bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comprehensive analysis of a pyroptosis-related gene signature of clinical and biological values in spinal cord injury
Authors: Zhang Pingping , Zhang Jianping , Kou Wenjuan , Gu Guangjin , Zhang Yaning , Shi Weihan , Chu Pengcheng , Liang Dachuan , Sun Guangwei , Shang Jun 
Published: May 2023

BackgroundSince some of the clinical examinations are not suitable for patients with severe spinal cord injury (SCI), blood biomarkers have been reported to reflect the severity of SCI. The objective of this study was to screen out the potential biomarkers associated with the diagnosis of SCI by bioinformatics analysis.MethodsThe microarray expression profiles of SCI were obtained from the Gene Expression Omnibus (GEO) database. Core genes correlated to pyroptosis were obtained by crossing the differential genes, and module genes were obtained by WGCNA analysis and lasso regression. The immune infiltration analysis and GSEA analysis revealed the essential effect of immune cells in the progression of SCI. In addition, the accuracy of the biomarkers in diagnosing SCI was subsequently evaluated and verified using the receiver operating characteristic curve (ROC) and qRT-PCR.ResultsA total of 423 DEGs were identified, among which 319 genes were upregulated and 104 genes were downregulated. Based on the WGCNA analysis, six potential biomarkers were screened out, including LIN7A, FCGR1A, FGD4, GPR27, BLOC1S1, and GALNT4. The results of ROC curves demonstrated the accurate value of biomarkers related to SCI. The immune infiltration analysis and GSEA analysis revealed the essential effect of immune cells in the progression of SCI, including macrophages, natural killer cells, and neutrophils. The qRT-PCR results verified that FGD4, FCAR1A, LIN7A, BLOC1S1, and GPR27 were significantly upregulated in SCI patients.ConclusionIn this study, we identified and verified five immune pyroptosis-related hub genes by WGCNA and biological experiments. It is expected that the five identified potential biomarkers in peripheral white blood cells may provide a novel strategy for early diagnosis.
Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7
Authors: Zhou Cong , Zhu Hongmei , Xiang Qinqin , Mai Jingqun , Wang Xihan , Wang Jing , Liu Shanling 
Published: May 2023

BackgroundIntellectual developmental disorder 7 (also named DYRK1A syndrome) is an autosomal dominant disease. The main clinical features of DYRK1A syndrome include intellectual disability, microcephaly, and developmental delay. This study aimed to identify pathogenic variants in a Chinese girl with developmental delay, impaired social interaction, and autistic behavior.Case presentationThe case was a 6-year-old girl. Clinical symptoms of the patient mainly included developmental delay, seizures, autistic behavior and impaired social interaction. The patient presented with microcephaly, bushy eyebrows, a short lingual frenum, binocular esotropia, bilateral valgus and external rotation, and walked with an abnormal gait. Using whole-exome sequencing, we identified a 9,424 bp de novo heterozygous deletion (containing coding exons 10, 11, and 12, and partial sequences of non-coding exon 12) in DYRK1A, which is responsible for DYRK1A syndrome. The DYRK1A variant is classified as pathogenic according to the criteria of the American College of Medical Genetics and Genomics.ConclusionsThe findings of this study augment the data regarding the pathogenic variants of DYRK1A and provide important information for molecular diagnosis.
Analytical validation of the 7-gene biosignature for prediction of recurrence risk and radiation therapy benefit for breast ductal carcinoma in situ
Authors: Dabbs David , Mittal Karuna , Heineman Scott , Whitworth Pat , Shah Chirag , Savala Jess , Shivers Steven C. , Bremer Troy 
Published: May 2023

PurposeDuctal carcinoma in situ (DCIS), is a noninvasive breast cancer, representing 20-25% of breast cancer diagnoses in the USA. Current treatment options for DCIS include mastectomy or breast-conserving surgery (BCS) with or without radiation therapy (RT), but optimal risk-adjusted treatment selection remains a challenge. Findings from past and recent clinical trials have failed to identify a ‘low risk’ group of patients who do not benefit significantly from RT after BCS. To address this unmet need, a DCIS biosignature, DCISionRT (PreludeDx, Laguna Hills, CA), was developed and validated in multiple cohorts. DCISionRT is a molecular assay with an algorithm reporting a recurrence risk score for patients diagnosed with DCIS intended to guide DCIS treatment. In this study, we present results from analytical validity, performance assessment, and clinical performance validation and clinical utility for the DCISionRT test comprised of multianalyte assays with algorithmic analysis.MethodsThe analytical validation of each molecular assay was performed based on the Clinical and Laboratory Standards Institute (CLSI) guidelines Quality Assurance for Design Control and Implementation of Immunohistochemistry Assays and the College of American Pathologists/American Society of Clinical Oncology (CAP/ASCO) recommendations for analytic validation of immunohistochemical assays.ResultsThe analytic validation showed that the molecular assays that are part of DCISionRT test have high sensitivity, specificity, and accuracy/reproducibility (≥95%). The analytic precision of the molecular assays under controlled non-standard conditions had a total standard deviation of 6.6 (100-point scale), where the analytic variables (Lot, Machine, Run) each contributed &lt;1% of the total variance. Additionally, the precision in the DCISionRT test result (DS) had a 95%CI ≤0.4 DS units under controlled non-standard conditions (Day, Lot, and Machine) for molecular assays over a wide range of clinicopathologic factor values. Clinical validation showed that the test identified 37% of patients in a low-risk group with a 10-year invasive IBR rate of ~3% and an absolute risk reduction (ARR) from RT of 1% (number needed to treat, NNT=100), while remaining patients with higher DS scores (elevated-risk) had an ARR for RT of 9% (NNT=11) and 96% clinical sensitivity for RT benefit.ConclusionThe analytical performance of the PreludeDx DCISionRT molecular assays was high in representative formalin-fixed, paraffin-embedded breast tumor specimens. The DCISionRT test has been analytically validated and has been clinically validated in multiple peer-reviewed published studies.
Genetic alterations in LEP and ADIPOQ genes and risk for breast cancer: a meta-analysis
Authors: Peng Wei-zhao , Liu Xin , Li Chao-feng , Zhao Jin 
Published: May 2023

IntroductionBreast cancer has a strong genetic predisposition, and its genetic architecture is not fully understood thus far. In this study, we aimed to perform a meta-analysis to evaluate the association of genetic alterations in LEP and ADIPOQ genes, as well as their receptor-encoded genes with risk for breast cancer. MethodsOnly published studies conducted in humans and written in English were identified by searching PubMed, SCOPUS, CINAHIL and Embase from their inception to October 2022. Eligibility assessment and data collection were completed independently by two researchers. Statistical analyses were done using the STATA software. ResultsAfter literature search, 33 publications were eligible for inclusion. Overall, LEP gene rs7799039-G allele (odds ratio [OR]: 0.78, 95% confidence interval [CI]: 0.62 to 0.98) and ADIPOQ gene rs1501299-T allele (OR: 1.41, 95% CI: 1.06 to 1.88) were associated with the significant risk of breast cancer. In subgroup analyses, differences in menopausal status, obesity, race, study design, diagnosis of breast cancer, genotyping method and sample size might account for the divergent observations of individual studies. Circulating leptin levels were comparable across genotypes of LEP gene rs7799039, as well as that of LEPR gene rs1137101 (P&gt;0.05). Begg’s funnel plots seemed symmetrical, with the exception of LEPR gene rs1137100 and ADIPOQ gene rs1501299. DiscussionTaken together, we found, in this meta-analysis, that LEP gene rs7799039 and ADIPOQ gene rs1501299 were two promising candidate loci in predisposition to breast cancer risk.
Empathic disequilibrium as a new framework for understanding individual differences in psychopathology
Authors: Shalev Ido , Eran Alal , Uzefovsky Florina 
Published: May 2023

IntroductionEmpathy is part of basic social cognition and is central to everyday interactions. Indeed, emotional and cognitive empathy deficits are related to various psychopathologies, yet the links reported have been inconsistent. Thus, the mechanism underlying these inconsistent links is poorly understood. At least a partial answer may lie in that the dependency between cognitive and emotional empathy has been overlooked. Here, we examined the (dis)equilibrium between emotional and cognitive empathy and how it relates to individual differences in clinical traits. We further examined a possible mediator of these links—emotional reactivity.MethodsParticipants (N = 425) from the general population reported on their empathy, emotional reactivity, autistic traits, psychopathic tendencies, and symptoms of depression and anxiety.ResultsBeyond empathy, both extremes of empathic disequilibrium were associated with various features of clinical conditions; Higher emotional relative to cognitive empathy was related to the social domain of autism and anxiety, while higher cognitive relative to emotional empathy was related to the non-social domain of autism, depression symptoms, and psychopathic tendencies. The associations with autistic traits, anxiety, and psychopathic tendencies were mediated by emotional reactivity.DiscussionOur findings suggest a new framework for understanding how individual variability in empathy is expressed in various psychopathologies.
Problemas ligados ao álcool em centros de emergência (PLACE)—People experiencing homelessness with alcohol-related problems in Lisbon's emergency shelters during the COVID-19 pandemic: a description and analysis of a harm reduction intervention
Authors: Azevedo Filipe Oliveira , Neto Ana , Gama Ana , Subtil Ana , Fuertes Ricardo , Pereira Claúdia , Tavares Joana , Medinas Raquel Luis , Silva Ana V. , Dias Sónia 
Published: May 2023

IntroductionAlcohol-related problems disproportionally affect people experiencing homelessness. As the first wave of the COVID-2019 pandemic spread in 2020, a number of emergency shelters were opened in Lisbon. Increased difficulties in obtaining alcohol could have led to an increased incidence of alcohol withdrawal. Therefore, a low-threshold harm reduction intervention was introduced to these emergency shelters. This consisted of a fixed medication treatment, made available immediately for those with specific conditions, without the need for a medical evaluation or abstinence from alcohol, together with an offer of subsequent access to specialized addiction centers. The Problemas Ligados ao Álcool em Centros de Emergência (PLACE) study (alcohol-related problems in emergency shelters) is a retrospective mixed-methods observational study. It describes the demographic, health, and social characteristics of shelter users participating in the program and aims to evaluate the intervention as well as the experience of the patients, professionals, and decision-makers involved.ResultsA total of 69 people using shelters self-reported alcohol-related problems. Among them, 36.2% of the people accepted a pharmacological intervention, and 23.2% selected an addiction appointment. The take-up of the intervention was associated with better housing outcomes. A description of an individual's trajectory after leaving the shelter is provided.DiscussionThis study suggests that non-abstinence-focused interventions can be useful and well-tolerated in treating addiction in this population.
Effects of varenicline on the serum levels of olanzapine in male patients with Schizophrenia: a randomized controlled trial
Authors: Deng Mengling , Yang Zhi , Ni Yanfei , Zhu Lingli , Xu Jiating , Zheng Lifeng , Zhou Bo 
Published: May 2023

BackgroundSmoking in patients with Schizophrenia is more common than in the general population. Varenicline, a partial agonist at α4β2 nicotinic acetylcholine receptors, is an effective smoking cessation pharmacotherapy in patients with Schizophrenia. However, its effects on the serum levels of antipsychotics in Schizophrenia are understudied. This study investigated the impact of smoking cessation with varenicline on the serum concentration of olanzapine in patients with Schizophrenia.MethodsAdult smokers with Schizophrenia were enrolled in a 12-week course of varenicline and placebo for smoking cessation. The serum concentration of olanzapine was measured at baseline and weeks 1, 2, 4, 8, and 12. Data were analyzed with the generalized additive mixed model.ResultsDuring the 12-week study, the results indicated that olanzapine concentrations increased nonlinearly in the varenicline and placebo groups. Threshold effect analysis suggested that the olanzapine concentrations increased over time until the turning point (week 4). However, there was no significant difference between the two treatment groups.ConclusionVarenicline showed safety and efficacy in smoking cessation in people with Schizophrenia.
Urban and individual correlates of subjective well-being in China: An application of gradient boosting decision trees
Authors: Huang Xiaoyan , Kang Chenchen , Yin Chun , Li Yu 
Published: May 2023

IntroductionSubjective well-being (SWB) is attributable to both individual and environmental attributes. However, extant studies have paid little attention to the contribution of environmental attributes at the urban level to SWB or their nonlinear associations with SWB.MethodsThis study applies a machine learning approach called gradient boosting decision trees (GBDTs) to the 2013 China Household Income Survey data to investigate the relative importance of urban and individual attributes to and their nonlinear associations with SWB.ResultsThe urban and individual attributes make similar relative contributions to SWB. Income and age are the most important predictors. Urban facilities make a larger contribution than urban development factors. Moreover, urban attributes exert nonlinear and threshold effects on SWB. Cultural facilities and green space have inverted U-shaped correlations with SWB. Educational facilities, medical facilities, and population size are monotonically associated with SWB and have specific thresholds.DiscussionImproving urban attributes is important to enhancing residents’ SWB.
Social capital and loneliness among older adults in community dwellings and nursing homes in Zhejiang Province of China
Authors: Chen Yan , Zhou Yuchen , Li Min , Hong Yanyan , Chen Hongkun , Zhu Shanshan , Zhou Yiying , Yang Shuangyu , Wu Xianlan , Wang Dahui 
Published: May 2023

BackgroundLoneliness is an important problem afflicting the health of older adults, and has been proven to be associated with social capital. Previous research in China rarely investigated the differences of social capital and loneliness between older adults living in community dwellings and nursing homes. This study aims to examine the status of social capital and loneliness among older adults living in community dwellings and nursing homes, and analyze the relationship between them.MethodsA total of 1,278 older adults were recruited for the study from the cities of Hangzhou, Huzhou, and Lishui in Zhejiang Province of China from July to October 2021 by using multi-stage stratified random sampling. Questionnaires were used to collect data on the participants’ sociodemographic characteristics, social capital, and loneliness. Hierarchical multiple regression was used to examine the relationship between social capital and loneliness. The interaction of social capital and institutionalization on loneliness was also explored.ResultsCompared with community-dwelling older adults, institutionalized older adults had higher levels of loneliness and lower degrees of social support, social connection, trust, cohesion, and reciprocity. A further analysis of the social capital showed that low levels of social support, trust, and cohesion were related to high levels of loneliness among adults in both community dwellings and nursing homes. Social connection was negatively correlated with loneliness among older adults living in community dwellings. Institutionalization itself demonstrated a strong effect on loneliness.ConclusionHealth-related policies should help older adults gain more social support, trust and cohesion to alleviate their loneliness. This is particularly crucial for older adults living in nursing homes, as they have higher levels of loneliness and lower levels of social capital than noninstitutionalized older adults.
Access to anticancer medicines in public hospitals of Northwestern China
Authors: Ma Yue , Peng Jin , Yao Xuelin , Feng Liuxin , Shi Xinke , Jiang Minghuan 
Published: May 2023

ObjectiveWe aimed to evaluate the accessibility of anticancer medicines in public hospitals of Shaanxi, a representative province of Northwestern China.MethodsThirty-one anticancer medicines were investigated in 146 designated public hospitals in 10 cities of Shaanxi Province. We used medicine procurement data from the Shaanxi Drug Centralized Purchasing Platform during 2019–2021. Primary outcomes included the availability, drug utilization, and affordability of anticancer medicines.ResultsThe mean availability of 31 anticancer medicines increased significantly from 5.45% in 2019 to 14.72% in 2021. The mean availability of nationally negotiated medicines was significantly lower than that of Class B medicines (8.72% vs. 12.85%, p = 0.048), whilst the availability of injectable medicines was significantly greater than that of oral medicines (13.66% vs. 8.77%, p = 0.007). In 2019–2021, the annual mean amount purchased increased significantly from CNY 6.51 million to CNY 18.56 million (p = 0.007). The mean defined daily doses of 31 medicines significantly rose from 225.50 to 1019.50 (p = 0.008) whereas their defined daily drug cost significantly decreased from CNY 551.15 to CNY 404.50 (p &lt; 0.001). The percentage of catastrophic health expenditure decreased from 71.0 to 51.65% and from 90.30 to 80.60% for urban and rural residents, respectively. The affordability of nationally negotiated medicines was significantly lower than that of Class B medicines (p = 0.032), and the affordability of injectable medicines had no significant difference compared to that of oral medicines (p = 0.124) for both urban and rural residents.ConclusionThe accessibility of anticancer medicines improved dramatically in public hospitals of Northwestern China during the period 2019–2021.
Development of the self-regulation assessment and content validation using cognitive interviews in a multicultural post-rehabilitation population
Authors: Mol Tanja , Scholten Eline , van Bennekom Coen , Post Marcel 
Published: May 2023

AimSelf-regulation is one of the main goals of medical rehabilitation. Four themes of self-regulation were identified by former patients and rehabilitation physicians in a previous study. Based on these themes, a measure for self-regulation, the self-regulation assessment (SeRA), was developed. This study aimed to establish the content validity of the SeRA in a multicultural and multi-diagnostic post-rehabilitation population.MethodsThe Consensus-based Standards for the selection of health Measurement Instruments (COSMIN) methodology was applied. First, cognitive interviews were held with eight former rehabilitation patients. Feedback was obtained on relevance, comprehensibility, and comprehensiveness of the items. Items with problems were revised. Then, a second series of cognitive interviews was held with 16 former rehabilitation patients with non-Western migration backgrounds. Again, feedback was obtained on relevance, comprehensibility, and comprehensiveness of the items.ResultsThe first series of cognitive interviews revealed good comprehensiveness, and also comprehensibility or relevance problems with 12 of the 25 items. These items were revised or deleted. Two missing concepts were identified and these were added. There was no need to revise the items based on the results of the second series of cognitive interviews.ConclusionThe final version of the SeRA demonstrated content validity for the studied population. The measure is ready for psychometric analyses in subsequent validation studies.
Experiences of newly qualified dentists in delivering oral health advice to parents/caregivers of young children—challenges and solutions
Authors: Rutter Lucy , Duara Raginie , Vinall-Collier Karen A. , Owen Jenny , Haley Isabelle , Gray-Burrows Kara A. , Hearnshaw Simon , Marshman Zoe , Day Peter F. 
Published: May 2023

IntroductionA key skill for dental professionals to master is their ability to have effective preventive oral health conversations. On qualifying, UK dentists undertake a one-year foundation training programme in general practice. This study explored with Foundation Dentists, the barriers and facilitators to undertaking oral health conversations with parents/caregivers and their children, aged 0–11 years old.Materials and methodsApproximately 100 Foundation Dentists from the Yorkshire and Humber region attended a series of focus groups. They discussed how they and their wider dental team undertake oral health conversations with parents/caregivers of young children, aged 0–11 years old. The data was analysed using thematic analysis.ResultsFive themes were identified as barriers and facilitators to providing oral health advice: (1) Lack of knowledge around parenting skills and child development; (2) Parental receptivity; (3) Motivation for changing behaviours; (4) Information content and inconsistency; and (5) Current National Health Service (NHS) structures of general dental practice.DiscussionA multi-faceted approach is needed to develop the training of Foundation Dentists to undertake preventive oral health conversations with parents/caregivers and children. Such an approach has the potential to improve the patient-practitioner relationship and increase effective behaviour change conversations taking place in general dental care, thus improving children's oral health.
Pengaruh Kualitas Pelayanan Dan Harga Terhadap Loyalitas Pelanggan Yang Dimediasi Oleh Kepuasan Pelanggan
Authors: Wiguna Muhammad Abdilla , Padmantyo Sri 
Published: May 2023

<p align="justify">Penelitian ini bertujuan untuk menganalisis pengaruh kualitas pelayanan dan harga terhadap loyalitas pelanggan yang dimediasi oleh kepuasan pelanggan. Populasi dan sampel penelitian ini adalah pelanggan Mie Gacoan di SoloRaya sebanyak 220 responden. Jenis data yang digunakan pada penelitian ini adalah data primer. Metode pengumpulan data dengan menggunakan kuesioner dan di olah menggunakan alat analisis Partial Least Square (PLS). Hasil penelitian menunjukkan bahwa kualitas pelayanan berpengaruh positif dan signifikan terhadap loyalitas pelanggan, harga berpengaruh positif dan signifikan terhadap loyalitas pelanggan, kualitas pelayanan berpengaruh positif dan signifikan terhadap kepuasan pelanggan, kualitas pelayanan berpengaruh positif dan signifikan terhadap kepuasan pelanggan, kepuasan pelanggan berpengaruh positif dan signifikan terhadap loyalitas pelanggan, kepuasan pelanggan mampu memediasi pengaruh kualitas pelayanan terhadap loyalitas pelanggan, dan kepuasan pelanggan mampu memediasi pengaruh harga terhadap loyalitas pelanggan.</p><p><strong>Kata kunci</strong>: Harga, Kepuasan Pelanggan, Kualitas Pelayanan, dan Loyalitas Pelanggan.</p>