bluuebunny/crossref_metadata_2025_split huggingface dataset:
The efficacy of the treat-repair-treat strategy for severe pulmonary arterial hypertension associated with congenital heart disease: a meta-analysis
Authors: Wang Zhiyuan , Li Xiaobing , Li Mengxuan , Peng Jun , Zhang Huijun 
Published: November 2023

AbstractBackgroundThis meta-analysis was conducted to evaluate the efficacy of the treat-repair-treat (TRT) strategy in the treatment of severe pulmonary arterial hypertension with congenital heart disease (PAH-CHD).MethodsPubMed, EMBASE, Cochrane and Web of Science online databases were searched by two independent investigators for studies that used the TRT strategy for PAH-CHD, and the retrieved studies were reviewed by a third investigator. The main outcomes were pulmonary artery pressure (PAP), pulmonary vascular resistance (PVR), 6-minute walk distance (6MWD), and transcutaneous oxygen saturation (SpO2). The changes were compared between follow-up and baseline. Stata version 14.0 was used for data analysis. A random-effects model was selected for meta-analysis. Subgroup analysis and meta-regression were used to find the source of heterogeneity.ResultsA total of 335 patients from 9 single-arm studies were included. Meta-analysis showed significant reductions in PAP and PVR and improvements in 6MWD and SpO2(PAP: SMD -2.73 95% CI -2.97, − 2.50p = < 0.001; PVR: SMD -1.27 95% CI -1.53, − 1.02p = < 0.001; 6MWD: SMD 1.88 95% CI 1.49, 2.27p = < 0.001; SpO2: SMD 3.72 95% CI 3.13, 4.32p = < 0.001). Subgroup analysis showed that younger patients had better efficacy, and the change in SpO2was an indication for patient selection. The combined mortality rate was 5% at follow-up.ConclusionsIn this meta-analysis, we demonstrated that the TRT strategy may have positive effects on haemodynamics and cardiac function in patients with severe PAH-CHD at short-term follow-up. Our analysis suggests that changes in age and SpO2may be related to patient prognosis.Trial registrationThe protocol was registered on the PROSPERO website with the registration number CRD42022366552. The relevant registration information can be obtained from the websitehttps://www.crd.york.ac.uk/prospero/#searchadvanced.
Clinical competence, communication ability and adherence to choosing wisely recommendations for lipid reducing drug use in older adults
Authors: Tamblyn Robyn , Moraga Teresa , Girard Nadyne , Chan Fiona K. I. , Habib Bettina , Boulet John 
Published: November 2023

Abstract
Background
Although lipid-lowering drugs are not recommended for primary prevention in patients 75+, prevalence of use is high and there is unexplained variation in prescribing between physicians. The objective of this study was to determine if physician communication ability and clinical competence are associated with prescribing lipid-lowering drugs for primary and secondary prevention.

Methods
We used a cohort of 4,501 international medical graduates, 161,214 U.S. Medicare patients with hyperlipidemia (primary prevention) and 49,780 patients with a history of cardiovascular disease (secondary prevention) not treated with lipid-lowering therapy who were seen by study physicians in ambulatory care. Clinical competence and communication ability were measured by the ECFMG clinical assessment examination. Physician citizenship, age, gender, specialty and patient characteristics were also measured. The outcome was an incident prescription of lipid-lowering drug, evaluated using multivariable GEE logistic regression models for primary and secondary prevention for patients 75+ and 65-74.

Results
Patients 75+ were less likely than those 65-74 to receive lipid-lowering drugs for primary (OR 0.62, 95% CI 0.59-0.66) and secondary (OR 0.70, 95% CI 0.63-0.78) prevention. For every 20% increase in clinical competence score, the odds of prescribing therapy for primary prevention to patients 75+ increased by 24% (95% CI 1.02-1.5). Communication ability had the opposite effect, reducing the odds of prescribing for primary prevention by 11% per 20% score increase (95% CI 0.8-0.99) for both age groups. Physicians who were citizens of countries with higher proportions of Hispanic (South/Central America) or Asian (Asia/Oceania) people were more likely to prescribe treatment for primary prevention, and internal medicine specialists were more likely to treat for secondary prevention than primary care physicians.

Conclusion
Clinical competence, communication ability and physician citizenship are associated with lipid-lowering drug prescribing for primary prevention in patients aged 75+.
Potential determinants of the quantity and duration of COVID-19 outbreaks in geriatric long-term care facilities
Authors: Evers Janis , Geraedts Max 
Published: November 2023

Abstract
Background
We analyzed potential factors for the number and duration of COVID-19 outbreaks in nursing homes based on routine and structural data.

Methods
All outbreaks during 03/2020-01/2022 in N = 687 of a total of 879 geriatric long-term care facilities (LTCFs) in the Federal State of Hesse, Germany were analyzed using t-tests and logistic regressions in a retrospective cohort study.

Results
Larger LTCFs have more (+ 1.57, p = .009) and longer outbreaks (+ 10.04 days, p > .001). A higher proportion of registered nurses reduces the number (-0.1, p = .036) and duration (-6.02 days, p > .001) of outbreaks. Single-bed rooms provide less duration of outbreaks (-4.5, p = .004). A higher proportion of infected residents (+ 24.26 days, p < .001) and staff (+ 22.98 days, p < .001) prolong outbreaks the most. LTCFs in areas with intermediate population density have an increased risk of prolonged outbreaks (OR: 1.537, p = .036).

Conclusions
To prevent outbreaks and shorten their duration, LTCFs should increase the proportion of registered nurses and single-bed rooms, and control staff infections.
The relationship of pre-pregnancy body mass index with maternal anthropometric indices, weight retention and the baby’s weight and nutrition in the first 6 months post-partum
Authors: Ahmadibeni Ayda , Kashani Parhoon , Hallaj Mohammad Sadegh , Ghanbari Saeed , Javadifar Nahid 
Published: November 2023

Abstract
Purpose
Pre-pregnancy body fat mass is one of the important indicators of the mother's and the infant's health. Therefore, the purpose of this study was to investigate relationship of pre-pregnancy body mass index (PPBMI) with maternal anthropometric indices and weight retention as well as the baby's weight and nutrition in the first 6 months post-partum.

Materials and methods
This is a prospective cohort study including 397 mothers giving birth to healthy babies and referring to health centers in Ahvaz (southwest of Iran) in 2022. The following data were extracted from the participants' electronic record: body mass index (BMI) before or at the beginning of pregnancy, gestational weight gain, and weight at the time of delivery. In addition to demographic information, the following data were also evaluated: maternal anthropometric indices including weight, hip and waist circumference, and conicity index during the first 10 days post-partum, along with the weight and nutrition pattern of the baby 2, 4 and 6 months post-partum.

Results
The mean age of the mothers was 29.96±5.7 years. The frequency of mothers according to BMI classification (i.e., underweight, normal, overweight, and obese) was 4.3%, 38.5%, 37%, and 20.3%, respectively. In this study, PPBMI had a significant relationship with decreasive changes of weight, waist and hip circumferen and conicity index after child birth, 2, 4 and 6 months post-partum (P<0.05) but the mean reduction of these anthropoemetric indices at 6th month postpartum were not related to PPBMI (P>0.05). However, this relationship was not significant when it came to the weight of the baby (P > .05). The lowest reduction in weight, waist and hip circumference and conicity index belonged to overweight mothers but the highest frequency of mothers with excesive gestational weight gain, the lowest frequency of breastfeeding until 6 months and also the lowest values of postpartum weight retention were observed in obese mothers (P<0.05).

Conclusion
According to the findings of this study, the decrease in anthropometric indices up to 6 months after delivery in overweight mothers is less than other BMI groups, but the consequences related to weight and nutrition in infants of obese mothers need special attention. Also, the results re-emphasize the importance of focusing on provision of educational and counseling services to mothers in order to improve their nutrition and weight, especially before pregnancy.
Child maltreatment associates with violent victimization in young adulthood: a Brazilian birth cohort study
Authors: Bordignon Eveline , Miranda Vanessa Iribarrem Avena , de Mola Zanatti Christian Loret , Menezes Ana Maria Baptista , da Silva Helen Denise Gonçalves , Wehrmeister Fernando César , Murray Joseph 
Published: November 2023

Abstract
Background
Maltreatment in childhood may leave people vulnerable to further experiences of violence and more severe effects of stress later in life. Longitudinal studies of risk for violent victimisation after maltreatment are lacking in low- and middle-income countries. The objective of this study was to quantify the risk for violent victimization in the family and community in young adulthood following experiences of childhood maltreatment (experiences of physical, emotional and sexual abuse and neglect) up to age 15 years in an urban Brazilian population.

Methods
3246 participants in a prospective, population-based birth cohort study in Pelotas, Rio Grande do Sul, Brazil, were assessed at birth, 15 and 22 years. Sociodemographic factors were reported by mothers at birth and adolescents at age 15 years. Maltreatment and violent victimisation were self-reported in confidential questionnaires at 15 and 22, respectively. Multinomial logistic regression analyses estimated the association between having experienced any maltreatment and later experiences of family and community violence in young adulthood (no adult violence, violence only in the family context, only in the community, or both violence in the family and community), adjusting for sociodemographic factors.

Results
39% of females and 27% of males reported any maltreatment up to age 15 years. At 22 years, rates of past year violence in the family or community were 17.6% for females and 20.2% for males. Maltreatment was strongly associated with community violence (Females: OR = 2.96, CI = 1.83–4.80; Males: OR = 2.01, 95%CI = 1.01-4.00) and its co-occurrence with family violence (Females: OR = 2.33, 95%CI = 1.34–4.04; Males: OR = 3.20, 95%CI = 1.82–5.65) in young adulthood, after adjustment for background sociodemographic factors.

Conclusion
Childhood maltreatment is an important risk factor for later violent victimisation in both the family and community context. The effects of repeated trauma through the life-course needs research and clinical attention.
Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta
Authors: Zhang Zhenwei , Zou Xiaoying , Feng Lin , Huang Yu , Chen Feng , Sun Kai , Song Yilin , Lv Ping , Gao Xuejun , Dong Yanmei , Tian Hua 
Published: November 2023

Abstract
Background
Amelogenesis imperfecta (AI) is a developmental enamel defect affecting the structure of enamel, esthetic appearance, and the tooth masticatory function. Gene mutations are reported to be relevant to AI. However, the mechanism underlying AI caused by different mutations is still unclear. This study aimed to reveal the molecular pathogenesis in AI families with 2 novel pre-mRNA splicing mutations.

Methods
Two Chinese families with AI were recruited. Whole-exome sequencing and Sanger sequencing were performed to identify mutations in candidate genes. Minigene splicing assays were performed to analyze the mutation effects on mRNA splicing alteration. Furthermore, three-dimensional structures of mutant proteins were predicted by AlphaFold2 to evaluate the detrimental effect.

Results
The affected enamel in family 1 was thin, rough, and stained, which was diagnosed as hypoplastic-hypomature AI. Genomic analysis revealed a novel splicing mutation (NM_001142.2: c.570 + 1G > A) in the intron 6 of amelogenin (AMELX) gene in family 1, resulting in a partial intron 6 retention effect. The proband in family 2 exhibited a typical hypoplastic AI, and the splicing mutation (NM_031889.2: c.123 + 4 A > G) in the intron 4 of enamelin (ENAM) gene was observed in the proband and her father. This mutation led to exon 4 skipping. The predicted structures showed that there were obvious differences in the mutation proteins compared with wild type, leading to impaired function of mutant proteins.

Conclusions
In this study, we identified two new splicing mutations in AMELX and ENAM genes, which cause hypoplastic-hypomature and hypoplastic AI, respectively. These results expand the spectrum of genes causing AI and broaden our understanding of molecular genetic pathology of enamel formation.
Using a theory informed approach to design, execute, and evaluate implementation strategies to support offering reproductive genetic carrier screening in Australia
Authors: Best Stephanie , Long Janet C. , Fehlberg Zoe , Taylor Natalie , Ellis Louise A. , Boggs Kirsten , Braithwaite Jeffrey 
Published: November 2023

Abstract
Background
Health care professionals play a central role in offering reproductive genetic carrier screening but face challenges when integrating the offer into practice. The aim of this study was to design, execute, and evaluate theory-informed implementation strategies to support health care professionals in offering carrier screening.

Methods
An exploratory multi-method approach was systematically employed based on the Theoretical Domain Framework (TDF). Implementation strategies were designed by aligning TDF barriers reported by health care professionals involved in a large carrier screening study, to behaviour change techniques combined with study genetic counsellors’ experiential knowledge. The strategies were trialled with a subset of health care professionals and evaluated against controls, using findings from questionnaires and interviews with healthcare professionals. The primary outcome measure was the number of couples who initiated enrolment.

Results
Health care professionals (n = 151) reported barriers in the TDF Domains of skills, e.g., lack of practice in offering screening, and challenges of environmental context and resources, e.g., lack of time, which informed the design of a skills video and a waiting room poster using the TDF-behaviour change technique linking tool. Following implementation, (Skills video n = 29 vs control n = 31 and Poster n = 46 vs control n = 34) TDF barrier scores decreased across all groups and little change was observed in the primary outcome measure. The skills video, though welcomed by health care professionals, was reportedly too long at seven minutes. The waiting room poster was seen as easily implementable.

Conclusions
As carrier screening moves towards mainstream healthcare, health care professionals report barriers to offering screening. To meet their needs, developing and testing experiential and theory-informed strategies that acknowledge contextual factors are essential.
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
Authors: Xie Xiaorui , Huang Baojia , Su Linjuan , Cai Meiying , Chen Yuqin , Wu Xiaoqing , Xu Liangpu 
Published: November 2023

Abstract
Background
With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication. The study aimed to explore the molecular etiology of fetal TE and provide more information for the clinical screening and genetic counseling of TE by Chromosomal Microarray Analysis (CMA).

Methods
This retrospectively study included 131 fetuses with TE identified by ultrasonography. Conventional karyotyping and SNP array analysis were performed for all the subjects. They were divided into isolated TE group (n = 55) and complex group (n = 76) according to structural anomalies.

Results
Among the total of 131 fetuses, karyotype analysis found 12(9.2%) abnormal results, while SNP array found 27 (20.6%) cases. Trisomy 18 was detected most frequently among abnormal karyotypes. The detection rate of SNP array was significantly higher than that of traditional chromosome karyotype analysis (P < 0.05). SNP array detected 15 (11.5%) cases of submicroscopic abnormalities that karyotype analysis did not find. The most common CNV was the 22q11.2 microdeletion. For both analyses, the overall detection rates were significantly higher in the complex TE group than in the isolated TE group (karyotype: P < 0.05; SNP array: P < 0.05). The incremental yield of chromosomal abnormalities in fetuses with unilateral TE (22.0%) was higher than in fetuses with bilateral TE (19.8%), but this difference was not statistically significant (P > 0.05). Abnormal chromosomes were most frequently detected in fetuses with TE plus cardiovascular system abnormalities.

Conclusion
Fetal TE is related to chromosomal microdeletion or microduplication. Prenatal diagnosis is recommended for fetuses with TE, and CMA testing is preferred. CMA can improve the detection rate of chromosomal abnormalities associated with fetal TE, especially in pregnancies with complex TE.
TSTA3 overexpression promotes malignant characteristics in LUSC by regulating LAMP2-mediated autophagy and tumor microenvironment
Authors: Guo Yanlin , Hao Yanlong , Shen Liuyi , Du Yu , Wang Xiaohui , Gao Lvye , Feng Xuefei , Zhai Yuanfang , Liu Zhifei , Xu Enwei , Yang Yue , Xi Yanfeng , Yang Bin , Zhang Ling 
Published: November 2023

Abstract
Background
TSTA3 gene encoding GDP-l-fucose synthase has recently been proved to be closely related to the prognosis of patients with various tumors. However, its role in lung cancer is still unclear. The purpose of this study is to explore the expression level, prognostic effect, potential function and mechanism of TSTA3 in lung cancer.

Methods
Based on TCGA database, Kaplan–Meier and COX regression was used to analyze the relationship between TSTA3 expression and prognosis of lung cancer patients. Immunohistochemistry was used to determine the TSTA3 protein expression in lung cancer and normal tissues. The function of TSTA3 in lung squamous cell carcinoma (LUSC) cell was determined by CCK8, colony formation, transwell assay in vitro and subcutaneous xenografts in vivo. Transcriptome analysis, Lyso-Tracker Red staining and rescue experiment were used to explore the possible underlying mechanism.

Results
The expression of TSTA3 was significantly increased in lung cancer, especially in LUSC, and was significantly correlated with the malignant characteristics of LUSC. COX regression analysis showed that the high expression of TSTA3 was an independent prognostic factor in LUSC patients. This was also confirmed by immunohistochemical staining. Compared with the control group, the proliferation, colony formation, invasion and migration ability of LUSC cells with TSTA3 overexpression was enhanced. Similarly, the ability of cell proliferation, colony formation, invasion and migration were weakened after transient knockdown of TSTA3. In vivo experiment showed that compared with control group, TSTA3 overexpression significantly promoted the growth of tumor and shortened survival time. In addition, transcriptome sequencing analysis showed that the differentially expressed genes between TSTA3 overexpression and control group was mainly concentrated in the lysosome pathway. Further study found that TSTA3 might affect the proliferation, invasion and migration of LUSC by regulating the expression of lysosome-associated membrane protein 2 (LAMP2) in LUSC.

Conclusion
The expression level of TSTA3 in LUSC is significantly higher than that in normal tissues. High expression of TSTA3 is associated with poor prognosis of LUSC patients. TSTA3 may affect the proliferation, invasion and migration of LUSC by regulating LAMP2.
Carbon nanosol-induced assemblage of a plant-beneficial microbiome consortium
Authors: Cheng Lingtong , Tao Jiemeng , Qu Zechao , Lu Peng , Liang Taibo , Meng Lijun , Zhang Wei , Liu Nan , Zhang Jianfeng , Cao Peijian , Jin Jingjing 
Published: November 2023

AbstractCarbon nanosol (CNS) is a carbon-based nanomaterial that promotes plant growth; however, its functional mechanisms and effects on the microbiome are not fully understood. Here, we explored the effects of CNS on the relationship between the soil, endophytic microbiomes and plant productivity. CNS treatment increased the fresh biomass of tobacco (Nicotiana tabacum L.) plants by 27.4% ± 9.9%. Amplicon sequencing analysis showed that the CNS treatment significantly affected the composition and diversity of the microbial communities in multiple ecological niches associated with tobacco, especially the bulk soil and stem endophytic microbiome. Furthermore, the application of CNS resulted in enhanced network connectivity and stability of the microbial communities in different niches, particularly in the soil, implying a strengthening of certain microbial interactions. Certain potentially growth-promoting root endophytic bacteria were more abundant under the CNS treatment. In addition, CNS increased the abundance of some endophytic microbial functional genes known to enhance plant growth, such as those associated with nutrient metabolism and the plant hormone biosynthesis pathways. We isolated two bacterial strains (Sphingopyxis sp. and Novosphingobium sp.) that were enriched under CNS treatment, and they were confirmed to promote tobacco plant growth in vitro. These results suggested that CNS might, at least in part, promote plant growth by enriching beneficial bacteria in the microbiome.
Graphical Abstract
Machine learning-based analysis of cancer cell-derived vesicular proteins revealed significant tumor-specificity and predictive potential of extracellular vesicles for cell invasion and proliferation – A meta-analysis
Authors: Bukva Matyas , Dobra Gabriella , Gyukity-Sebestyen Edina , Boroczky Timea , Korsos Marietta Margareta , Meckes David G. , Horvath Peter , Buzas Krisztina , Harmati Maria 
Published: November 2023

Abstract
Background
Although interest in the role of extracellular vesicles (EV) in oncology is growing, not all potential aspects have been investigated. In this meta-analysis, data regarding (i) the EV proteome and (ii) the invasion and proliferation capacity of the NCI-60 tumor cell lines (60 cell lines from nine different tumor types) were analyzed using machine learning methods.

Methods
On the basis of the entire proteome or the proteins shared by all EV samples, 60 cell lines were classified into the nine tumor types using multiple logistic regression. Then, utilizing the Least Absolute Shrinkage and Selection Operator, we constructed a discriminative protein panel, upon which the samples were reclassified and pathway analyses were performed. These panels were validated using clinical data (n = 4,665) from Human Protein Atlas.

Results
Classification models based on the entire proteome, shared proteins, and discriminative protein panel were able to distinguish the nine tumor types with 49.15%, 69.10%, and 91.68% accuracy, respectively. Invasion and proliferation capacity of the 60 cell lines were predicted with R2 = 0.68 and R2 = 0.62 (p < 0.0001). The results of the Reactome pathway analysis of the discriminative protein panel suggest that the molecular content of EVs might be indicative of tumor-specific biological processes.

Conclusion
Integrating in vitro EV proteomic data, cell physiological characteristics, and clinical data of various tumor types illuminates the diagnostic, prognostic, and therapeutic potential of EVs.