bluuebunny/crossref_metadata_2025_split huggingface dataset:
Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exon
Authors: Yang Wen-jing , Yan Ai-zhen , Xu Yong-jun , Guo Xiao-yan , Fu Xian-guo , Li Dan , Liao Juan , Zhang Duo , Lan Fenghua 
Published: June 2020

Abstract
Background: the disease gene of fragile X syndrome, FMR1 gene, encodes fragile X mental retardation protein (FMRP). The alternative splicing (AS) of FMR1 can affect the structure and function of FMRP. However, the biological functions of alternatively spliced isoforms remain elusive. In a previous study, we identified a new 140 bp exon from the intron 9 of human FMR1 gene. In this study, we further examined the biological functions of this new exon and its underlying signaling pathways. Results: qRT-PCR results showed that this novel exon is commonly expressed in the peripheral blood of normal individuals. Comparative genomics showed that sequences paralogous to the 140 bp sequence only exist in the genomes of primates. To explore the biological functions of the new transcript, we constructed recombinant eukaryotic expression vectors and lentiviral overexpression vectors. Results showed that the spliced transcript encoded a truncated protein which was expressed mainly in the cell nucleus. Additionally, several genes, including the BEX1 gene involved in mGluR-LTP or mGluR-LTD signaling pathways were significantly influenced when the truncated FMRP was overexpressed. Conclusions: our work identified a new exon from amid intron 9 of human FMR1 gene with wide expression in normal healthy individuals, which emphasizes the notion that the AS of FMR1 gene is complex and may in a large part account for the multiple functions of FMRP.
Association of 5p15.2 and 15q14 with High Myopia in Tujia and Miao Chinese Populations
Authors: Wang Junwen , Liu Fang , Song Xiusheng , Li Tuo 
Published: June 2020

Abstract
Background: The polymorphisms rs6885224 and rs634990 have been reported to be associated with high myopia in many populations. As there is still no report on whether these two SNPs are associated with myopia in the Tujia and Miao minority areas of China, we conducted a replication study to evaluate the association of single-nucleotide polymorphisms in the regions 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations.Methods: We performed a comprehensive meta-analysis of 5831 cases and 7055 controls to assess whether rs6885224 in the 5p15.2 region and rs634990 in the 15q14 region are associated with high myopia. Our replication study enrolled 804 individuals. Genomic DNA was extracted from venous leukocytes, and these two SNPs were genotyped by Sanger sequencing. Allele and genotype frequencies were analysed using χ2 tests, and ORs and 95% CIs were calculated.Results: According to the results of the meta-analysis, rs6885224 in the CTNND2 gene showed no association with myopia [p=0.222, OR=1.154, 95% CI (0.917-1.452)]. Conversely, rs634990 in the 15q14 region did exhibit a significant correlation with myopia [p=7.270´10-7, OR=0.817, 95% CI (0.754-0.885)]. In our replication study, no association with high myopia in the Tujia and Miao populations was found for rs634990 or rs6885224. The following were obtained by allele frequency analysis: rs6885224, p=0.175, OR=0.845, and 95% CI=0.662-1.078; rs634990, p=0.087, OR=0.84, and the 95% CI=0.687-1.026. Genotype frequency analysis yielded p=0.376 for rs6885224 and p=0.243 for rs634990.Conclusions: Our meta-analysis results show that rs634990 was significantly associated with myopia but that rs6885224 was not. Nevertheless, in our replication study, these two SNPs showed no association with myopia in the Tujia and Miao Chinese populations. This is the first report involving Tujia and Miao ethnic groups from Enshi minority areas. However, the sample size needs to be expanded and more stringent inclusion and exclusion criteria need to be formulated to verify the findings.
Quitting the quitline: a qualitative study of patient experience of electronic referrals to quitlines
Authors: Albert Elizabeth L , Rose Jeanmarie C , Gill India J , Flocke Susan A 
Published: June 2020

Abstract
Background: The use of electronic referrals (eReferrals) to state quitlines (QLs) for tobacco-using patients is a promising approach for addressing smoking cessation on a large scale. However, QL contact, enrollment, and completion rates are low. The purpose of this study was to examine the eReferral to QL process from the patient’s perspective in order to inform strategies for improving QL engagement. Methods: We conducted interviews with 55 patients who agreed to an eReferral at a primary care visit to 1 of 8 safety-net community health centers in Cuyahoga County, Ohio (September 2017-August 2018). Interviews were designed to explore the experiences of three subgroups of patients who subsequently: 1) declined participation in the QL; 2) were unreachable by the QL; or 3) were enrolled in or had completed the QL program. Analysis was guided by a phenomenological approach designed to identify emergent themes. Results: Reasons for QL program non-completion included changing life circumstances and events making cessation unviable; misunderstandings about the QL; discomfort with telephonic counseling; perceived lack of time for counseling; cell phone barriers; and having already quit smoking. We found that some individuals who were no longer engaged with the QL still desired continued support from the QL.Conclusions: Participants intentionally and unintentionally disengage from the QL for a wide variety of reasons, several of which are mediated by low socioeconomic status. Integrating QL care with community-based resources that address these mediators could be a promising strategy.
Applying an intersectionality lens to the Theoretical Domains Framework: a tool for thinking about how intersecting social identities and structures of power influence behaviour
Authors: Etherington Nicole , Rodrigues Isabel Braganca , Giangregorio Lora , Graham Ian D. , Hoens Alison M , Kasperavicius Danielle , Kelly Christine , Moore Julia E. , Ponzano Matteo , Presseau Justin , Sibley Kathryn M. , Straus Sharon 
Published: June 2020

Abstract
Background

A key component of the implementation process is identifying potential barriers and facilitators that need to be addressed. The Theoretical Domains Framework (TDF) is one of the most commonly used frameworks for this purpose. When applying the TDF, it is critical to understand the context in which behaviours occur. Intersectionality, which accounts for the interface between social identity factors (e.g. age, gender) and structures of power (e.g. ageism, sexism), offers a novel approach to understanding how context shapes individual decision-making and behaviour. We aimed to develop a tool to be used alongside applications of the TDF to incorporate an intersectionality lens when identifying implementation barriers and enablers.

Methods

An interdisciplinary Framework Committee (n=17) prioritized the TDF as one of three models, theories, and frameworks (MTFs) to enhance with an intersectional lens through a modified Delphi approach. In collaboration with the wider Framework Committee, a subgroup considered all 14 TDF domains and iteratively developed recommendations for incorporating intersectionality considerations within the and its domains TDF. An iterative approach aimed at building consensus was used to finalize recommendations.

Results

Consensus on how to apply an intersectionality lens to the TDF was achieved after 12 rounds of revision. Two overarching considerations for using the intersectionality-enhanced TDF were developed by the group as well as two to four prompts for each TDF domain to guide interview topic guides. Considerations and prompts were designed to assist users to reflect on how individual identities and structures of power may play a role in barriers and facilitators to behaviour change and subsequent intervention implementation.

Conclusions

Through an expert-consensus approach, we developed a tool for applying an intersectionality lens alongside the TDF. Considering the role of intersecting social factors when identifying barriers and facilitators to implementing research evidence may result in more targeted and effective interventions that better reflect the realities of those involved.
Impact of sample size on the stability of risk scores from clinical prediction models: a case study in cardiovascular disease
Authors: Pate Alexander , Emsley Richard , Sperrin Matthew , Martin Glen P. , Staa Tjeerd van 
Published: June 2020

Abstract
Background Stability of risk estimates from prediction models may be highly dependent on the sample size of the dataset available for model derivation. In this paper, we evaluate the stability of cardiovascular disease risk scores for individual patients when using different sample sizes for model derivation; such sample sizes include those similar to models recommended in national guidelines, and those based on recently published sample size formula for prediction models.Methods We mimicked the process of sampling N patients from a population to develop a risk prediction model by sampling patients from the Clinical Practice Research Datalink. A cardiovascular disease risk prediction model was developed on this sample and used to generate risk scores for an independent cohort of patients. This process was repeated 1000 times, giving a distribution of risks for each patient. N = 100 000, 50 000, 10 000 and Nmin (derived from sample size formula) were considered. The 5 – 95 percentile range of risks across these models was used to evaluate instability. Patients were grouped by a risk derived from a model developed on the entire population (population derived risk) to summarise results.Results For a sample size of 100 000, the median 5 – 95 percentile range of risks for patients across the 1000 models was 0.77%, 1.60%, 2.42% and 3.22% for patients with population derived risks of 4-5%, 9-10%, 14-15% and 19-20% respectively, for N = 10 000 it was 2.49%, 5.23%, 7.92% and 10.59%, and for N using the formula derived sample size, it was 6.79%, 14.41%, 21.89% and 29.21%. Restricting this analysis to models with high discrimination, good calibration or small mean absolute prediction error reduced the percentile range, but high levels of instability remained.Conclusions Widely used cardiovascular disease risk prediction models suffer from high levels of instability induced by sampling variation. Many models will also suffer from overfitting (a closely linked concept), but at acceptable levels of overfitting there may still be high levels of instability in individual risk. Stability of risk estimates should be a criterion when determining the minimum sample size to develop models.
Molecular mapping of a novel lesion mimic gene (lm4) associated with enhanced resistance to stripe rust in bread wheat
Authors: Liu Rong , Lu Jing , Zheng Shigang , Zhou Min , Du Mei , Zhang Chihong , Wang Minxiu , Li Yunfang , Xing Jiayi , Wu Yu , Zhang Lei 
Published: June 2020

Abstract
Background: Lesion mimics (LM) is a disease-like symptom randomly spread on plant green leaves without any pathogens. Previous study has found that LM was related to enhanced resistance to a broad spectrum of diverse pathogen races and programmed cell death (PCD). Stripe rust is a globally epidemic fungal disease that can significantly reduce the quality and yield of crops. The development of resistance cultivars is an economically and environmentally way for enhancing adaptability and yield stability of crops instead of fungicides application. In this study, a novel LM gene with Pst resistance was identified and mapped with developing molecular markers for marker assisted selection (MAS) in wheat breeding.Results: In this study, a novel LM gene named as lm4 was identified by using a Yanzhan1/Neixiang188 RILs population, which is closely linked to SSR markers Xgwm210 and Xgwm455 by 8.06 cM intervals. Then the genetic distance of the lm4 was shortened and flanked by SSR markers with 0.51cM and 0.77cM interval. Two SSR markers lm4_01_cib and lm4_02_cib were developed based on Chinese Spring genome database and wheat-660K SNP result, which can be used to conduct MAS of LM in wheat. And the results also showed that lm4 has significantly improved the resistance of stripe rust in wheat.Conclusions: Therefore, lm4 is associated with stripe rust resistance which may provide a theoretical support for future crop disease-resistant breeding and for understanding the plant apoptosis mechanism.
Association Between Wasting and Food Insecurity Among Children Under Five Years: Findings from Nepal Demographic Health Survey 2016
Authors: Nepali Sajama , Simkhada Padam , Davies Ian Glyyn 
Published: June 2020

Abstract
Background: Wasting is a consequence of food insecurity, poor access to appropriate, inadequate caring and feeding practices. The present study assessed association between wasting and household food insecurity among under five years children, along with other socio-demographics characteristics.Methods: This study is a secondary analysis of Nepal Demographic and Health Survey 2016. The survey is cross sectional in design with use of standardized tools. The sampling frame used is an updated version of the frame from the 2011 National Population and Housing Census. The participants were children under five years of age and total children analyzed were 2414. Logistic regression was carried out to identify the odds of being wasted for children belonging to different levels of food insecure households using odds ratio and 95 percent confidence interval. Results: The prevalence of wasting increased with the level of food insecurity, from mild (9.4%) to moderate (10.8%) and to severe (11.3%). The highest proportions of wasted children were in Province 2 (14.3%), from rural areas (10.1%), born to mothers with no education (12.4%) and from a richer quintile (11.3%). Children belonging to severe food insecure households had 1.36 (95% CI 0.72-2.57) adjusted odds of being wasted and those belonging to mild food insecure and moderately food insecure households have 1.13 (95%CI 0.65-1.97) and 1.36 (95%CI 0.72-2.57) odds of being wasted respectively. Province 1 (AOR 2.06, 95%CI 1.01-4.19) and Province 2 (AOR 2.45, 95%CI 1.22-4.95) were significantly associated with wasting.Conclusion: Considering the increment in childhood wasting as per level of food insecurity, an integrated intervention should be developed in Nepal that addresses improving knowledge and behavior of community people on diet and nutrition as well as reducing the problem of food insecurity through agricultural interventions.
Prevalence of dyslipidemia and associated risk factors among adults aged ≥ 35 years in northern China: a cross-sectional study
Authors: Xi Yunfeng , Niu Liwei , Cao Ning , Bao Han , Xu Xiaoqian , Zhu Hao , Yan Tao , Zhang Nan , Qiao Liying , Han Ke , Hang Gai , Wang Wenrui , Zhang Xingguang 
Published: June 2020

Abstract
Background: Cardiovascular disease (CVD) prevalence has increased continuously over the last 30 years in China. Dyslipidemia is an important modifiable risk factor in CVD. We aimed to collect current data on the prevalence of dyslipidemia in northern China and explore potential influencing factors.Methods: In this cross-sectional study, we selected a representative sample of 65,128 participants aged ≥35 years in Inner Mongolia during 2015–2017. All participants completed a questionnaire and were examined for risk factors. Dyslipidemia was defined according to 2016 Chinese guidelines for adults. The associated factors for dyslipidemia were estimated by multivariate logistic regression analysis.Results: The age-standardized prevalence of dyslipidemia was 31.2% overall, with 4.3%, 2.4%, 14.7%, and 17.4% for high total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), triglycerides (TG), and low high-density lipoprotein cholesterol (HDL-C), respectively. The dyslipidemia prevalence was significantly higher in men than women (37.9% vs. 27.5%, P<0.001), but postmenopausal women had a higher prevalence of dyslipidemia components (except low HDL-C). Compared with Han participants, Mongol participants had a lower prevalence of dyslipidemia (29.1% vs. 31.4%, P<0.001). Male sex, living in urban areas, Han ethnicity, smoking, obesity, central obesity, hypertension, and diabetes were all positively correlated with dyslipidemia; alcohol consumption was linked to lower risk of dyslipidemia.Conclusions: Our study revealed that dyslipidemia is a health problem in northern China. Greater efforts to prevent and manage dyslipidemia, especially in men under age 55 years, postmenopausal women, and people with unhealthy lifestyles or chronic diseases.
Differential Influences of Social Support on App Use for Diabetes Self-Management – a Mixed Methods Approach
Authors: Brew-Sam Nicola , Chib Arul , Rossmann Constanze 
Published: June 2020

Abstract
Background Recent studies increasingly examine social support for diabetes self-management delivered via mHealth. In contrast to previous studies examining social support as an outcome of technology use, or technology as a means for delivering social support, this paper argues that social support has an impact on the use of diabetes mHealth apps. Specifically, we postulate differences between the impact of healthcare professional versus non-professional (family/friends) support on mobile app use for diabetes self-management.Methods This research employed a triangulation of methods including exploratory semi-structured face-to-face interviews (N= 21, Study 1) and an online survey (N= 65, Study 2) with adult type 1 and type 2 diabetes patients. Thematic analysis (Study 1) was used to explore the relevance of social support (by professionals versus non-professionals) for diabetes app use. Binary logistic regression (Study 2) was applied to compare healthcare decision-making, healthcare-patient communication, and the support by the personal patient network as predictors of diabetes app use, complemented by other predictors from self-management and technology adoption theory.Results The interviews (Study 1) demonstrated that (technology-supported) shared decision-making and supportive communication by healthcare professionals depended on their medical specialty. The personal patient network was perceived as either facilitating or hindering the use of mHealth for self-management. Binary logistic regression (Study 2) showed that the physician specialty significantly predicted the use of diabetes apps, with supervision by diabetes specialists increasing the likelihood of app use (as opposed to general practitioners). Additionally, specialist care positively related to a higher chance of shared decision-making and better physician-patient communication. The support by the personal patient network predicted diabetes app use in the opposite direction, with less family/friend support increasing the likelihood of app use.Conclusion The results emphasize the relevance of support by healthcare professionals and by the patient network for diabetes app use and disclose differences from the existing literatureThe use of diabetes apps may increase in the absence of social support by family or friends (e.g., compensation for lack of support), and that use of diabetes apps may decrease when such support is high (e.g., no perceived need to use technology).
The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder
Authors: Zou Zhili , Huang Yulan , Wang Jinyu , Min Wenjiao , Zhou Bo 
Published: June 2020

Abstract
Background: A number of studies have shown that genetic factor plays an importantrole in etiology of panic disorder (PD). The aim of the present study was to examine the association of serotonin-related gene polymorphisms with PD risk. Then, we analyzed the correlation between these gene polymorphisms and response to sertraline drug.Methods: 233 patients with PD and 231 healthy controls were enrolled in the study. Panic Disorder Severity Scale (PDSS) were administered to all subjects, and all patients in the study were also assessed after 4 weeks of treatment. The SLC6A4(rs140701, rs3813034, 5-HTTLPR and STin2), 5-HTR1A rs6295, 5-HTR2A rs6313 and COMT rs4680 gene polymorphisms were genotyped and assessed for the potential association.Results: The allelic model showed that the SLC6A4 rs140701 polymorphism variant was significantly associated with increased risk of PD (OR = 0.624, 95 % CI 0.450-0.864, p<0.05), and a significant result was found in the dominant model (OR = 0.546; 95% CI, 0.371-0.804, p<0.05). There was a significant difference in allele and genotype frequency between responders and nonresponders in the 5-HTTLPR polymorphism (OR = 0.205, 95 % CI 0.128-0.328; OR = 0.249, 95 % CI 0.155-0.401, both p <0.001), indicating the PD patients with S-allele had a poorer response to sertraline than L-allele carriers.Conclusions: The present study suggests that the SLC6A4 rs140701 polymorphism variant may be associated with susceptibility to PD, and 5-HTTLPR polymorphism may be a predictor of response to sertraline in the treatment of PD.
Genome-wide detection and sequence conservation analysis of long non-coding RNA during hair follicle cycle of yak
Authors: Zhang Xiaolan , Bao Qi , Jia Congjun , Li Chen , Chang Yongfang , Wu Xiaoyun , Liang Chunnian , Bao Pengjia , Yan Ping 
Published: June 2020

Abstract
Background: Long non-coding RNA (lncRNA) as an important regulator has been demonstrated playing an indispensable role in the biological process of hair follicles (HFs) growth. However, their function and expression profile in the HFs cycle of yak are yet unknown. Only a few functional lncRNAs have been identified, partly due to the low sequence conservation and lack of identified conserved properties in lncRNAs. Here, lncRNA-seq was employed to detect the expression profile of lncRNAs during the HFs cycle of yak, and the sequence conservation of two datasets between yak and cashmere goat during the HFs cycle was analyzed.

Results: A total of 2884 lncRNAs were identified in 5 phases (Jan., Mar., Jun., Aug., and Oct.) during the HFs cycle of yak. Then, differential expression analysis between 3 phases (Jan., Mar., and Oct.) was performed, revealing that 198 differentially expressed lncRNAs (DELs) were obtained in the Oct.-vs-Jan. group, 280 DELs were obtained in the Jan.-vs-Mar. group, and 340 DELs were obtained in Mar.-vs-Oct. group. Subsequently, the nearest genes of lncRNAs were searched as the potential target genes and used to explore the function of DELs by GO and KEGG enrichment analysis. Several critical pathways involved in HFs development such as Wnt signaling pathway, VEGF signaling pathway, and Signaling pathways regulating pluripotency of stem cells, were enriched. To further screen key lncRNAs influencing the HFs cycle, 24 DELs with differ degree of sequence conservation were obtained via a comparative analysis of partial DELs with previously published lncRNA-seq data of cashmere goat in the HFs cycle using NCBI BLAST-2.9.0+, and 3 DELs of them were randomly selected for further detailed analysis of the sequence conservation properties.

Conclusions: This study revealed the expression pattern and potential function of lncRNAs during HFs cycle of yak, which would expand the knowledge about the role of lncRNAs in the HFs cycle. The findings related to sequence conservation properties of lncRNAs in the HFs cycle between the two species may provide valuable insights into the study of lncRNA functionality and mechanism.

Keywords: Hair follicle cycling, lncRNA, NCBI blast-2.9.0+, Yak