bluuebunny/crossref_metadata_2025_split huggingface dataset:
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?
Authors: Coppin Lucie , Giraud Sophie , Pasmant Eric , Lagarde Arnaud , North Marie-Odile , Le-Collen Lauriane , Aubert Valérie , Mougel Grégory , Ladsous Miriam , Louboutin Alyzée , Brixi Hedia , Haissaguerre Magalie , Scheyer Nicolas , Klein Marc , Tabarin Antoine , Delemer Brigitte , Barlier Anne , Odou Marie-Françoise , Romanet Pauline 
Published: May 2022

Abstract
MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of inactivating mutations in the tumor suppressor gene MEN1. More than 1300 different mutations have been identified in this gene. Mosaic MEN1 mutations have been previously described in only a few patients in the literature. In this paper, we provide a review of six cases of MEN1 mosaicism reported in the literature supplemented with six additional cases described by the French TENgen network of laboratories. This review highlights that (i) MEN1 mosaicism is not associated with a mild phenotype and results in the same natural history as heterozygous MEN1 mutation and (ii) that more systematic detection of MEN1 mosaic mutation enables improvements in both patient monitoring and genetic counseling.
Diagnostic performance of next-generation sequencing and genetic profiling in thyroid nodules from a single center in China
Authors: Ren Min , Yao Qianlan , Bao Longlong , Wang Zhiting , Wei Ran , Bai Qianming , Ping Bo , Chang Cai , Wang Yu , Zhou Xiaoyan , Zhu Xiaoli 
Published: May 2022

Objective
The data regarding the mutation landscape in Chinese patients with thyroid cancer are limited. The diagnostic performance of thyroid nodules by fine-needle aspiration (FNA) cytology needs optimization, especially in indeterminate nodules.

Methods
A total of 1039 FNA and surgical resection samples tested using the targeted multigene next-generation sequencing (NGS) panel were retrospectively collected. The features of gene alterations in different thyroid tumors were analyzed, and the diagnostic efficacy was evaluated.

Results
Among 1039 samples, there were 822 FNA and 217 surgical FFPE samples. Among 207 malignant thyroid resections, a total of 181 out of 193 papillary thyroid carcinomas (PTCs) were NGS-positive (93.8%), with a high prevalence of BRAF mutations (81.9%, 158/193) and a low prevalence of RAS (1.0%, 2/193) and TERT promoter mutations (3.6%, 7/193). Gene fusions, involving the RET and NTRK3 genes, were present in 20 PTCs (10.4%) and mutually exclusive with other driver mutations. Two of three follicular thyroid carcinomas harbored multiple mutations. RET gene point mutations were common in medullary thyroid carcinoma (8/11, 72.7%). The combination of cytology and DNA–RNA-based NGS analysis demonstrated superior diagnostic value (98.0%) in FNA samples. For indeterminate thyroid nodules, the diagnostic sensitivity and specificity of NGS testing were 79.2 (38/48) and 80.0% (8/10), respectively. Two mutation-positive benign cases harbored NRAS and TSHR mutations, respectively.

Conclusions
Our study revealed the distinct molecular profile of thyroid tumors in the Chinese population. The combination of NGS testing and FNA cytology could facilitate the accurate diagnosis of thyroid nodules, especially for indeterminate nodules.
Contrahistorias: una propuesta a partir de la bioética narrativa para contrarrestar el discurso de odio
Authors: Manchola-Castillo Camilo 
Published: May 2022

Propósito/Contexto. Este artículo propone las contrahistorias con base en la bioética narrativa como dispositivos para contrarrestar el discurso del odio.
Metodología/Enfoque. Investigación cualitativa a partir de un paradigma hermenéutico y reflexivo, dividida en tres momentos metodológicos: revisión de la bioética narrativa, análisis del discurso de odio, establecimiento de una relación entre la bioética narrativa y el discurso del odio y proposición de contrahistorias como antídotos del discurso de odio.
Resultados/Hallazgos. Paradójicamente, la bioética narrativa y el discurso de odio comparten una característica importante: ambos son conscientes del poder que las historias encarnan para los seres humanos; sin embargo, los dos usan esas historias de manera diametralmente opuesta, mientras la bioética narrativa defiende la dignidad y la justicia social, el discurso de odio ataca estos dos elementos.
Discusión/Conclusiones/Contribuciones. La tercera onda de la bioética narrativa tiene el potencial de contrarrestar el discurso de odio a través de la creación de historias más allá de las historias que defiendan la dignidad y la justicia social, para esto es necesario educar y preparar a las personas para que no solo generen historias que persuadan, sino que sean politizadas y aboguen por la dignidad de los demás seres humanos.
Development of the spiritual and creative potential of future teachers in the school-university system
Authors: Yeshenkulova Elvira , Uspabayeva Aigul , Аbdigapbarova Ulzharkyn , Rysbayeva Akmaral , Rysbayeva Galiya , Gaukhar Doskarayeva 
Published: May 2022

The purpose of this research is to seek the opinions of teacher candidates in order to develop the spiritual and creative potential of future teachers in the ‘school-university’ system. This research was carried out using the qualitative research method. The participant group of the research consisted of 40 pre-service teachers who were studying at the faculty of education in the 2021–2022 academic year and agreed to participate in the study voluntarily. Research data were collected through the semi-structured interview form developed by the researchers. As a result of the research, it has been determined that the spiritual well-being and creative potential of the teacher candidates are at a moderate level. In addition, pre-service teachers suggested that courses should be given in universities in order to develop their spiritual and creative potentials. Some of the teachers offered suggestions to make practices to develop their spiritual and creative potential in the school-university environment and to benefit from experienced teachers in this system. In addition, teacher candidates stated giving importance to personal development and participating in personal development seminars as suggestions for the development of their spiritual and creative potentials. In line with the results of the research, the necessity of carrying out applications for the development of the spiritual well-being and creative potential of teacher candidates in the school-university system has arisen.

Keywords: School-university system, spiritual and creative potential, teachers of the future
Coupling Influence of Inclination Angle and Moisture Content on Mechanical Properties and Microcrack Fracture of Coal Specimens
Authors: Chen Liang , Zhang Dongsheng , Yao Nan , Wang Lan , Fan Gangwei , Wang Xufeng , Zhang Wei 
Published: May 2022

Abstract
Waterproof coal pillar in the underground reservoir is affected significantly by inclination loads and water erosion. Comprehensive understanding of the influence of moisture content and inclination angle on the mechanics properties and microfracture behavior of coal specimens plays an important role for revealing the instability mechanism of waterproof coal pillar. In this paper, a new modified combined compression and shear test (MC-CAST) system was firstly developed for achieving the specimen inclined loading and then used to carry out the inclined uniaxial compression test of water-bearing coal specimens at the inclination angle of 0°, 5°, 10°, and 15° and the moisture content of 0%, 2.42%, 5.53%, 7.55%, and 10.08%. The mechanical and microfracture behaviors of water-bearing coal specimens were analyzed and discussed by AE techniques and SEM. Research results indicate that ① the peak shear stress, peak strength, and elastic modulus of coals showed obvious moisture content weakening effect, and the weakening effect was more significant at larger inclination angle; ② the peak strength and elastic modulus decreased nonlinearly as inclination angle increased, of which decreasing amplitude was greater at high moisture content than that at low moisture content; ③ the peak shear stress gradually increased with the increasing inclination angle for 0%-7.55% moisture content, while it increased first and then decreased, and reached the maximum value at 10° inclination angle for 10.08% moisture content; ④ the stress thresholds of crack closure, initiation, and damage of coal specimens decreased gradually with the increase of moisture content and inclination angle, but the ratio of above three thresholds to their corresponding peak strength was basically unchanged; and ⑤ the erosion-stripping effect of bound water and pore pressure effect of free water, respectively, caused initial damage and secondary superposition damage of coal specimens before and after inclination loading test. Combining with the promotion effect of additional shear stress on crack initiation, propagation, and coalescence, the coupling effect of the above three factors was the fundamental reason for the strength deterioration of water-bearing coals under inclined loading. The research results can provide an important basis for the strength and stability evaluation of waterproof coal pillars of underground reservoirs in ecologically fragile areas.
Seeking adverse effects in systematic reviews of orthodontic interventions: a cross-sectional study (Part 1)
Authors: Steegmans Pauline A.J. , Girolamo Nicola Di , Bipat Shandra , Reynders Reint A Meursinge 
Published: May 2022

Abstract
Background
. Systematic reviews that assess the benefits of interventions often do not completely capture all dimensions of the adverse effects. This cross-sectional study (part 1 of 2 studies) assessed whether adverse effects were sought, whether the findings on these effects were reported, and what types of adverse effects were identified in systematic reviews of orthodontic interventions.
Methods
. Systematic reviews of orthodontic interventions on human patients of any health status, sex, age, and demographics, and socio-economic status, in any type of setting assessing any type of adverse effect scored at any endpoint or timing were eligible. The Cochrane Database of Systematic Reviews and 5 leading orthodontic journals were manually searched for eligible reviews between August 1 2009 and July 31 2021. Study selection and data extraction was conducted by two researchers independently. Prevalence proportions were calculated for four outcomes on seeking and reporting of adverse effects of orthodontic interventions. Univariable logistic regression models were used to determine the association between each one of these outcomes and the journal in which the systematic review was published using the eligible Cochrane reviews as reference.
Results.
98 eligible systematic reviews were identified. 35.7% (35/98) of reviews defined seeking of adverse effects as a research objective, 85.7% (84/98) sought adverse effects, 84.7% (83/98) reported findings related to adverse effects, and 90.8% (89/98) considered or discussed potential adverse effects in the review. Reviews in the journal Orthodontics and Craniofacial Research compared with Cochrane reviews had approximately 7 times the odds (OR 7.20, 95% CI 1.08 to 47.96) to define seeking of adverse effects in the research objectives. Five of the 12 categories of adverse effects accounted for 83.1% (162/195) of all adverse effects sought and reported.
Conclusions.
Although the majority of included reviews sought and reported adverse effects of orthodontic interventions, end-users of these reviews should beware that these findings do not give the complete spectrum on these effects and that they could be jeopardized by the risk of non-systematically assessing and reporting of adverse effects in these reviews and in the primary studies that feed them. Much research is ahead such as developing core outcome sets on adverse effects of interventions for both primary studies and systematic reviews.
A Theory-Informed Pre-Implementation Enhancement Strategy Targeting Mechanisms and Outcomes of Implementation: A Triple-Blind Randomized Controlled Trial
Authors: Zhang Yanchen , Cook Clayton , Larson Madeline , Azad Gazi , Merle James , Thayer Jordan , Pauls Alex , Lyon Aaron 
Published: May 2022

Abstract
Background
As the most common setting where youth access behavioral health services, the education sector frequently employs training and follow-up consultation as cornerstone implementation strategies to promote the implementation of evidence-based practices (EBPs). However, these strategies alone are not sufficient to promote desired implementation (e.g., intervention fidelity) and youth behavioral health outcomes (e.g., mitigated externalizing behaviors). Theory-informed pragmatic pre-implementation enhancement strategies (PIES) are needed to increase the yield of training and consultation. Specifically, social-cognitive theory explicates principles that inform the design of PIES content and specify mechanisms of behavior change (e.g., "intentions to implement"; ITI) to target to increase providers' responsiveness to training and consultation.
Methods
This triple-blind parallel randomized controlled trial preliminarily examined the efficacy of a pragmatic PIES based on social-cognitive theories (SC-PIES) to improve implementation and youth behavioral outcome from universal EBPs in the education sector. Teachers from a diverse urban district were recruited and randomly assigned to either the treatment (SC-PIES; n treatment = 22) or active control condition (administrative meeting; n control = 21). Based on the condition assigned, teachers received the SC-PIES (or met with administrators) before EBP training. We assessed teachers' ITI, intervention fidelity, and youth behavioral outcome (academic engagement as an incompatible behavior to externalizing disorders) at baseline, immediately after training, and six weeks afterward.
Results
A series of ANCOVAs detected sizeable effects of SC-PIES, where teachers who received SC-PIES demonstrated significantly larger improvement in their ITI, intervention fidelity, and youth behaviors as compared to the control. Conditional analyses indicated that teachers’ ITI partially mediated the effect of SC-PIES on intervention fidelity, which in turn led to improved youth behaviors.
Conclusions
Findings suggest that theory-informed pragmatic PIES targeting providers' ITI can potentially boost their responsiveness to implementation strategies, as reflected in improved implementation behaviors and youth behavioral health outcomes. The results have implications for targeting motivational mechanisms of behavior change and situating implementation strategies at the intersection between preparation and active implementation stages of an implementation process. Limitations and implications for research and practice are discussed and extended to general youth behavioral health settings.
Trial registration:
Clinicaltrials.gov: NCT05240222. Registered on: 2/14/2022. Retrospectively registered. https://clinicaltrials.gov/show/NCT05240222
Sexual dimorphism in a broadcast spawning coral, Porites lobata
Authors: Pedraza-Pohlenz Ricardo Mijail , Balart Eduardo F. , Tortolero-Langarica J. J. Adolfo , Rodríguez-Troncoso Alma Paola , Hellberg Michael E. , Norzagaray-López Orión , Cabral-Tena Rafael A. , Cupul-Magaña Amílcar Leví , Paz-García David A. 
Published: May 2022

Abstract
Sexual selection in gonochoristic corals should vary with the sex of the colony, which may lead to sexual dimorphism. Because coral colonies possess a complex morphological architecture composed of subunits (corallites), the degree of coordinated change among these subunits may be subject to divergent selection between sexes. This study tested for sexual dimorphism in the corallites of a reef-building coral Porites lobata, a free-spawner, and compared this with dimorphism of massive congeners, the brooder P. panamensis. Corallite area for male P. lobata was 17% larger than for conspecific females, perhaps due to enabling greater sperm release and fertilization success. Phenotypic modularity analysis (i.e., ability of subsets of traits to vary in a coordinated manner) showed that the integration of skeletal traits was similar between sexes in P. lobata but higher in males than females in P. panamensis. High integration may result in a more stable corallite morphology, while lower integration may permit a greater capacity for plasticity. Our results demonstrate corallite traits can be sexually dimorphic in free-spawning corals and suggest that between-sex differences in the degree of corallite integration may vary with reproductive mode.
An Immune-Related Clinical-Gene-Risk-Score (CGRS) prognosis Model for Bladder Cancer
Authors: Liu Sanhe , Duan Liqun , Wang Yiqi , Cui Diansheng , Deng Kangli , Wei Shaozhong , Dong Zhiqiang 
Published: May 2022

Abstract
Background Immunotherapy for bladder cancer is prevalent, while the efficacy is uncertain. To predict the outcomes of immunotherapy in bladder cancer patients, an immune-related prognosis model was conducted in this study. Methods Single sample Gene Set Enrichment Analysis was used to delineate the landscape of the tumor immune microenvironment based on two independent public databases. Hierarchical clustering analysis and t-distributed Stochastic Neighbor Embedding cluster map were used to classify the bladder cancers in the training cohort as well as the validating cohort into the immune high and immune low subtypes. Differentially expression analysis and The least absolute shrinkage and selection operator regression analysis had identified 23 differentially expressed immune-related genes between the two subtype patients to build a prognostic gene risk score model. Further combining the model with other clinicopathologic signatures, a Clinical-Gene-Risk-Score (CGRS) prognosis model was developed. Results Validations of the two models in independent cohorts revealed good accuracy. Conclusions Our model could provide prognostic indicators and potential immunotherapeutic targets for bladder cancers.
Identification of hub genes in the subacute spinal cord injury in rats
Authors: Yan Lei , Fu Jiawei , Dong Xiong , Chen Baishen , Hong Hongxiang , Cui Zhiming 
Published: May 2022

Abstract
Background
Spinal cord injury (SCI) is a common trauma in clinical practices. Subacute SCI is mainly characterized by neuronal apoptosis, axonal demyelination, Wallerian degeneration, axonal remodeling, and glial scar formation. It has been discovered in recent years that inflammatory responses are particularly important in subacute SCI. However, the mechanisms mediating inflammation are not completely clear.
Methods
The gene expression profiles of GSE20907, GSE45006, and GSE464 were downloaded from the GEO database. The differentially expressed genes (DEGs) and weighted correlation network analysis (WGCNA) were performed using R software, and functional enrichment analysis and protein-protein interaction (PPI) network were performed using Metascape. Module analysis was performed using Cytoscape. Finally, the relative mRNA expression level of central genes was verified by RT-PCR.
Results
A total of 206 candidate genes were identified, including 164 up-regulated genes and 42 down-regulated genes. The PPI network was evaluated, and the candidate genes enrichment results were mainly related to the production of tumor necrosis factors and innate immune regulatory response. Twelve core genes were identified, including 10 up-regulated genes and 2 down-regulated genes. Finally, seven hub genes with statistical significance in both the RT-PCR results and expression matrix were identified, namely Itgb1, Ptprc, Cd63, Lgals3, Vav1, Shc1, and Casp4. They are all related to the activation process of microglia.
Conclusion
In this study, we identified the hub genes and signaling pathways involved in subacute SCI using bioinformatics methods, which may provide a molecular basis for the future treatment of SCI.
Volatiles from the endophytic bacteria Bacillus sp. T6 confer Verticillium resistance in cotton
Authors: Wang Yu , Lei Shengwei , Zhang Hongxin , Liu Ziyang , Yang Jianwei , Niu Qiuhong , Zhang Lin 
Published: May 2022

Abstract
[Aims] To obtain the endophytic bacteria with Verticillium wilt-resistance and explore the interactions between soil and plants. [Methods] Active tracking screening experiments were used to isolate the target strains. Morphological examination and 16s rRNA sequence analysis were performed to identify the strain. GC-mass spectrometry was used to explore the inhibition factor. Transcriptome analysis was carried out to explore the potential genes. Molecular docking and qRT PCR were used to validate the gene function. [Results] An endophytic bacterium Bacillus sp. T6 was obtained from the Verticillium wilt-resistant cotton Gossypium barbadense ‘Xinhai15’. The strain possessed strong antagonistic abilities that inhibited V. dahliae spore germination and mycelial growth without contact, and thus, it was speculated that the active factor of the bacteria might be volatile compounds. A total of 46 volatile substances were detected. The styrene produced by the T6 strain was the main virulence factor. Following styrene induction, 247 genes in V. dahliae, including genes of four hydrolase, eight dehydrogenase, 11 reductase, and 17 genes related to transport and transfer were upregulated. Additionally, 72 genes, including two chitinase, two protease, five transport-related, and 33 hypothetical protein genes, were downregulated. The expression of the four genes VDAG_02838, VDAG_09554, VDAG_045572, and VDAG_08251 was increased by 3.18, 78.83, 2.71, and 2.92 times, respectively, compared with the uninduced control group. [Conclusions] The research provides a new reference for the development and application of the volatile compounds of endophytic bacteria as new biocontrol agents for the control of Verticillium wilt and as biological preservatives for agricultural products.
Blood pressure outcomes to different exercise modes in African Americans: a systematic review
Authors: Tomlinson Sherldine 
Published: May 2022

Abstract
Background
Exercise interventions have been established to help control blood pressure (BP) in African American cardiac patients. The research is limited in comparing the various types, modes, or exercise intensities and examines the most beneficial to lower BP in non-European groups, specifically African Americans.
Objectives
This systematic review aimed to investigate the blood pressure (BP) response to different exercise training modes and workloads in African American adults with or without hypertension (HTN).
Methods
A systematic literature search was carried out with two databases to search for relevant manuscripts related to exercise training.
Results
Nine papers met the inclusion criteria and were analysed. Two of the nine studies did not report a significant difference in BP from baseline to post-exercise. The most common exercise mode was walking at moderate to high intensity, specifically among female participants.
Conclusions
The results supported and are consistent with other research showing that all exercise modes can control and lower BP, but found walking more appealing with African American women.