bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic variation at a splicing branch point in intron 7 of STK11: a rare variant decreasing its expression in a Chinese family with Peutz–Jeghers syndrome
Authors: Wang Xiufang , Li Yuanyuan , Zhang Jingqiong , Liu Chao , Deng Aiping , Li Juyi 
Published: July 2024

Abstract
Background
Peutz–Jeghers syndrome (PJS), a rare dominantly inherited disease, is primarily characterized by hamartomatous polyps and melanotic macules as well as by an increased risk of cancer. The current study aimed to identify the pathogenic gene and pathogenic mechanism of a proband with PJS, thereby offering precise prevention and treatment strategies for PJS.

Methods
A detailed clinical examination was performed of the proband diagnosed with PJS and her family members. In addition, peripheral venous blood was collected from the family members to extract genomic DNA. The pathogenic genes of the proband were identified using whole-exome sequencing, and the candidate pathogenic variants were verified via Sanger sequencing. Meanwhile, co-segregation tests were performed among six family members. Finally, reverse transcription-polymerase chain reaction (RT-PCR) was performed to assess transcript variants in the peripheral blood cells of patients and non-related healthy controls.

Results
Genetic testing revealed a rare splicing variant c.921-1G > C in STK11 in the proband and in her sister and nephew, and the variant co-segregated among the affected family members and nonrelated healthy controls. The proband phenotypically presented with a rare gastric-type adenocarcinoma of the cervix. RT-PCR revealed that the STK11 c.921-1G > C variant could produce two transcripts. Of note, 40 base pairs were deleted in the aberrant transcript between exons 3 and 4, resulting in a frameshift variant and premature termination of the amino acid in exon 6 and ultimately leading to the loss of its functional domain in the STK11 protein. Finally, RT-PCR showed that compared with healthy controls, STK11 mRNA expression level was < 50% in patients.

Conclusion
The present study results indicated that the rare splicing variant c.921-1G > C in intron 7 of STK11 may be a pathogenic variant in patients with PJS. However, this variant (in intron 7) may not produce abnormal transcripts (deletion of 40 base pairs between exons 3 and 4), and PJS may be attributed to the decrease in STK11 expression. Therefore, this study emphasized the importance of genetic counseling, pre-symptomatic monitoring, and early complication management in PJS.
Study of barium copper silicate pigments on painted pottery from the Qinhan Xincheng, Western Han Dynasty (207 B.C.–8 A.D.), Xi’an, Shaanxi province, China
Authors: Yu Jinyu , Huang Kejia , Qin Chunlei , Zhou Jun , Yao Zhengquan , Li Naisheng , Zhu Jian 
Published: July 2024

Abstract
Lead-barium silicate system products, represented by barium copper silicate and lead-barium glass, epitomize a unique artistic craftsmanship of ancient China. Specifically, barium copper silicate products were the only known artificially synthesized blue-purple inorganic pigments in ancient China. Painted pottery decorated with barium copper silicate pigment, predominantly found in elite tombs after 2nd century B.C., is exceedingly rare and holds immense archaeological significance. This case employed multi micro-scale analytical techniques, such as ultra-depth-of-field microscopy, Raman spectroscopy, µ X-ray Diffraction, and electron probe microanalysis, for comprehensive microscopic examination of a rare Chinese Purple (CP, BaCuSi2O6) pigments on painted pottery. The analytical results confirm that the purple pigment is BaCuSi2O6, accompanied by cinnabar for the red and bone white for the white sections, suggesting the probable use of organic residues as an adhesive. Additionally, the study reveals microstructural characteristics in CP faience and CP pigments, notably the encapsulation of CP particles by quartz particles. Therefore, it can be hypothesized that the process of manufacturing purple pigment was achieved by grinding faience into fine particles and then using an organic-based adhesive to adhere these particles to the pottery. This implies that the evolutions in CP products circa the 2nd century B.C. were driven not by technological advances from lead-barium glass, but rather by shifts in application methods, reflecting an adaptation process among different cultures. This study provides new perspectives and significant insights for comprehending the interplay between barium copper silicate and lead-barium glass, reconstructing ancient pottery painting techniques, and exploring the era’s technological and cultural interactions.
Analysis of the spatial evolution of coastal defense patterns in the Ming Dynasty based on long-time-series Wokou invasions (Zhejiang)
Authors: Liu Huanjie , Wang Yinggang , Tan Lifeng , Zhang Rui , Zhang Fuhan 
Published: July 2024

Abstract
As a famous coastal defense heritage in the world’s military history, the maritime defense heritage of China’s Ming Dynasty represents the highest achievement of China’s ancient coastal military defense. There is a relative lack of holistic research on this defense system from its establishment to stabilization. Additionally, there is a lack of comparative research on the combination of Wokou invasions and defense patterns from a spatio-temporal perspective. The study aims to offer insights into the temporal and spatial evolution of ancient military defense heritage and investigate the significance of Ming Dynasty coastal defense. This study focuses on Zhejiang, a key coastal defense during the Ming Dynasty. Using GIS tools, it analyzes the spatio-temporal evolution characteristics of Wokou invasions and defense mode in the process of Zhejiang coastal defense from its establishment to its perfection by using GIS analytical tools, and explores the driving factors of the dynamic adjustment of this coastal defense system. The results show that: (1) Hongwu 1 to 31 (1368–1398) witnessed the construction of a 12-area defense system, encompassing Wei and Suo citadels. This followed a multi-point defense strategy, with Wei citadels controlling the coastline and Suo citadels supporting them; (2) Hongwu to Wanli (1368–1588) saw the evolution of five defense modes, evolving from decentralized to centralized and then to a coexistence of both. This culminated in the establishment of 4–6 Defense Mode (4 Canjiang and 6 Bazong); (3) the evolution of the defense paradigm is largely driven by Wokou incursions and is an adaptation from small-scale, short-duration infestations to large-scale, long-duration infestations. The findings show that the Ming Dynasty’s coastal defense system in China was flexible and adaptive, evolving to meet changing defense needs.
Nonzero-Sum Optimal Stopping Game with Continuous vs. Periodic Exercise Opportunities
Authors: Pérez José Luis , Rodosthenous Neofytos , Yamazaki Kazutoshi 
Published: July 2024

We introduce a new nonzero-sum game of optimal stopping with asymmetric exercise opportunities. Given a stochastic process modeling the value of an asset, one player observes and can act on the process continuously, whereas the other player can act on it only periodically at independent Poisson arrival times. The first one to stop receives a reward, different for each player, whereas the other one gets nothing. We study how each player balances the maximization of gains against the maximization of the likelihood of stopping before the opponent. In such a setup driven by a Lévy process with positive jumps, we not only prove the existence but also explicitly construct a Nash equilibrium with values of the game written in terms of the scale function. Numerical illustrations with put-option payoffs are also provided to study the behavior of the players’ strategies as well as the quantification of the value of available exercise opportunities. Funding: K. Yamazaki was partly supported by The Japan Society for the Promotion of Science (JSPS) Grant-in-Aid for Scientific Research (KAKENHI) [Grants 19H01791, 20K03758, and 24K06844], Open Partnership Joint Research Projects [Grant JPJSBP120209921], and the University of Queensland [start-up grant].
Causal effects of risky behaviours on heart failure: a two-sample Mendelian randomisation study
Authors: Chen Yu , Cui Hanbin 
Published: July 2024

Aims/Background Previous studies have indicated correlations between various risky behaviours, increased risk tolerance, and the likelihood of heart failure. However, the causative nature of these correlations remains to be established. Therefore, our research aims to explore the causality between phenotypes of risky behaviour and the incidence of heart failure. Methods To assess causality, a two-sample Mendelian randomisation analysis was employed. Genetic variants of risky behaviours and risk tolerance (n=251,151–939,908) were sourced from existing genome-wide association summary statistics. For heart failure, genetic links were derived from a separate genome-wide association summary statistics dataset involving 977,323 individuals, comprising 47,309 heart failure cases and 930,014 controls. The primary method for this analysis was the inverse variance weighted technique. Results Mendelian randomisation analysis indicated a positive association between the number of offspring an individual has and the likelihood of heart failure (odds ratio, 1.841; 95% confidence interval, 1.528–2.217, p=1.26 × 10−10). Additionally, a modest statistically significant link was found between overall risk tolerance and heart failure (odds ratio, 1.249; 95% confidence interval, 1.003–1.556, p=0.047). Conversely, a genetic predisposition towards frequent automobile speeding showed a protective effect against heart failure (odds ratio, 0.732; 95% confidence interval, 0.545–0.982, p=0.037). Conclusion This Mendelian randomisation study confirmed genetically that risky behaviours are causally linked to the likelihood of heart failure. This finding may offer fresh perspectives on the pathogenic mechanisms underlying the progression of heart failure.
Widening research participation: a survey exploring stakeholders' views about opportunities for older adults living in UK care homes to participate in research
Authors: Nocivelli Brittany , Wood Fiona , Hood Kerenza , Wallace Carolyn , Shepherd Victoria 
Published: July 2024

Background/Aims Older adults living in care homes are underrepresented in research, resulting in a poorer evidence base for their care. Increasing opportunities and ability for care home residents to be included in research is urgently needed. This survey explored the views and experiences of relevant stakeholders in the UK about opportunities for residents to participate in research, decisions about participation, and the barriers and facilitators to their involvement. Methods The survey was conducted from September to December 2022 using an online survey tool or paper-based format. Participants were recruited via multiple routes, including social media and contact with care homes. Quantitative data were analysed using descriptive statistics and free-text responses were analysed using content analysis. Results A total of 80 participants responded to the survey, of which 46 were suitable for analysis from care home residents (n=6), relatives (n=11), care home staff (n=14), other health and social care professionals who work with care homes (n=7), and researchers (n=8). The main barriers identified were the discordance between stakeholders' awareness of research opportunities and difficulties with residents' communication needs. Facilitators included effective communication between stakeholders, positive staff engagement and researchers' flexibility. Conclusions There are a number of barriers to the inclusion of care home residents in research. There is a need to develop strategies to improve communication and relationships between stakeholders, as well as training programmes to educate stakeholders about care home-based research and its benefits. Implications for practice These findings can support the development of strategies to improve communication and relationships between stakeholders, training programmes to educate stakeholders about care home research and its benefits, and targeted interventions to improve research inclusion for UK care home residents.
Tecnologias de Gestão Colaborativa no Brasil
Authors: Pereira de Souza Mariana Mayumi Pereira de Souza , Missy Costa D'Ávila Stella 
Published: July 2024

O presente artigo teve como objetivo investigar quais racionalidades e motivações permeiam as trajetórias de vida dos indivíduos que promovem, aplicam e ensinam tecnologias de gestão colaborativa no Brasil. À luz da teoria crítica da tecnologia de Feenberg (2002), buscamos analisar se a aplicação e a disseminação das tecnologias de gestão colaborativa têm sido orientadas pela racionalidade subversiva, o que indicaria um fator de diferenciação destas tecnologias com relação a meros modismos gerenciais (CALDAS; TONELLI, 2000). Foram estudadas três tecnologias: a Teoria U (SCHARMER, 2010), o Dragon Dreaming (CROFT, 2009) e a Sociocracia (BUCK; VILLINES, 2007). Foram entrevistados quinze indivíduos que aplicam, promovem e ensinam essas tecnologias, por meio de entrevistas semi-estruturadas. O material coletado foi analisado por meio da Análise de Discurso (AD). Ao final da pesquisa, concluímos que as tecnologias de gestão colaborativa podem ser consideradas subversões à lógica dos modismos gerenciais. A grande maioria dos entrevistados possui uma trajetória de vida diferente do convencional, dedicando-se vocacionalmente à disseminação das tecnologias, entendendo-as como um serviço a toda a sociedade, apesar da falta de legitimação social e retorno financeiro satisfatório.
Applications of nanotechnology and nanoproduction techniques
Authors: Ali Malek 
Published: July 2024

Abstract
A wide variety of materials having at least one dimension between 1 and 100 nm make up the remarkable class of materials known as nanomaterials (NMs). By rationally designing nanoparticles, very large surface areas may be attained. It is possible to create NMs with exceptional mechanical, optical, electrical, and magnetic properties that differ significantly from their traditional materials. A brief history of NMs and how they have been used to spur advancements in nanotechnology development is covered in this overview. Throughout the review, the special properties of NMs are emphasized. There is a discussion of several techniques for synthesizing NMs, including top-down and bottom-up strategies. The characteristics, uses, and methods of manufacture of nanoparticles are succinctly and simply summarized in this study.
Understanding perceived tranquillity in urban Woonerf streets: case studies in two Dutch cities
Authors: Leereveld Theun , Estévez-Mauriz Laura , Margaritis Efstathios 
Published: July 2024

Abstract
Within the current urbanised society, the call for calm and quiet areas seems more pressing than ever. Such tranquil environments like the Woonerf streets in the Netherlands allow a more human-centred design, where traffic has a restricted speed limit of 15 km/h, while pedestrians and cars share the street without segregation. In the past, predictive models have been developed to assess the tranquillity levels based on indices related to noise exposure and the amount of greenery measured through the Green View Index. However, the urban environment encompasses multiple sound sources with people having different reactions towards the auditory stimuli. Because of this complexity, objective sound measurements are examined in combination with the subjective perception of noise through eight perceptual attributes. This is done by collecting audio and visual data in 61 Woonerf streets in the cities of Groningen and Leeuwarden, supported by additional questionnaire data gathered from the corresponding residents of the above-mentioned areas. Within the context of Woonerf streets, results indicate that sound levels are perceived as relatively pleasant and uneventful. Furthermore, a difference is observed between the predicted and subjective tranquillity.
Who was Victor
Mattaritanus
(Cassiodorus,
Institutiones
1,29,2)? A Note on the Contribution of Exiles from Vandal Africa to the Reception of the Augustinian Doctrine of Grace
Authors: Villegas Marín Raúl 
Published: July 2024

Abstract
This article proposes a hypothesis about the identity of the Victor Mattaritanus who, as attested by Cassiodorus, produced a “corrected Augustinian edition” of a work by John Cassian, most probably Collatio 13. He would have been a bishop of Mactaris (Maktar, Tunisia) in the province of Byzacena, deported to Sardinia under the reign of the Vandal king Thrasamund, who joined the monastic community established by Fulgentius of Ruspe in Cagliari. This community housed a rich library and an active scriptorium and soon became a stronghold of Augustinianism, but it is very likely that the works of Cassian, an author dear to Fulgentius, were also widely read, copied, and edited there.
Relative Strength and Physical Performance in US Army Male and Female Soldiers
Authors: Grier Tyson , Benedict Timothy , Mahlmann Olivia , Canham-Chervak Michelle 
Published: July 2024

Abstract
Grier, T, Benedict, T, Mahlmann, O, and Canham-Chervak, M. Relative Strength and Physical Performance in U.S. Army Male and Female Soldiers. J Strength Cond Res 38(8): 1479–1485, 2024—In occupations with high physical demands, strength relative to bodymass is an important measure as it signifies an individual's ability to control and move their body mass through space. The purpose of this investigation was to examine physical characteristics, training, and performance based on different magnitudes of relative strength. Subjects were 1,806 male and 319 female US Army soldiers. Sex, age, height, body mass, and physical training data were obtained by an electronic survey. Physical performance was measured by the Army Combat Fitness Test (ACFT), which includes a three-repetition maximum deadlift, standing power throw, hand release push-up, sprint-drag-carry, leg tuck, and two-mile run. The relative body mass deadlifted was calculated and categorized into 4 groups for men and 3 groups for women. An analysis of variance and post hoc least significant difference test were used to evaluate the differences in relative strength and physical performance. Overall, 33% of men deadlifted ≥1.5 times their body mass, while 30% of women deadlifted ≥1.25 times their body mass. Men and women deadlifting the highest percentage of their body mass (≥1.5 times for men and ≥1.25 times for women) outperformed those with lower relative strength within their own sex in all 6 ACFT events. In 4 of the 6 ACFT events, women who deadlifted ≥1.25 times their body mass had similar performance compared with men deadlifting 1 to 1.24 times their body mass and outperformed men deadlifting <1 times their body mass. Greater strength relative to body mass was associated with higher physical performance.
Natural and anthropogenic sources of organic aerosol in the atmosphere: kinetics and mechanism of formation in the forest-steppe zone of Western Siberia
Authors: КОБЗЕВА Т.В. , ДУЛЬЦЕВА Г.Г. , ДУБЦОВ С.Н. , СТЕКЛЕНЕВА М.Е. 
Published: July 2024

Исследован вклад карбонильных соединений в образование атмосферного органического аэрозоля в присутствии типичных загрязнителей городской атмосферы. Альдегиды и кетоны, поступающие в атмосферу из природных и антропогенных источников, идентифицированы методом высокоэффективной жидкостной хроматографии. Натурные измерения проведены на территории Новосибирского научного центра и в прилегающих лесных массивах. Обнаружено, что при переносе типичных газообразных загрязнителей городского воздуха (оксиды азота, озон) в воздух лесных массивов, а биогенных соединений (алкенов, альдегидов) на территорию города резко меняются кинетика и механизм образования органического аэрозоля по сравнению с процессами в типичной городской атмосфере. Так, в присутствии озона выход аэрозольных продуктов фотонуклеации формальдегида, ацетальдегида и пропаналя увеличивается в 4–8 раз, а бензальдегида и акролеина уменьшается в 5 и 30 раз соответственно, тогда как для ароматических замещенных альдегидов и фурфураля выход аэрозоля увеличивается незначительно (до 30%). Полученные результаты позволяют проводить количественные оценки мощности природных и антропогенных источников органического аэрозоля в условиях лесостепной зоны Западной Сибири и прогнозировать биологическое действие образующегося аэрозоля при разных сочетаниях выбросов.
Contribution of carbonyl compounds into the generation of atmospheric organic aerosol in the presence of typical urban air pollutants is investigated. Aldehydes and ketones entering the atmosphere from natural and anthropogenic sources are identified by means of high-performance liquid chromatography. Field measurements were carried out on the territory of Novosibirsk scientific center and in adjacent forest areas. It is shown that the transport of typical gaseous urban air pollutants (nitrogen oxides and ozone) into the air of forest areas and the transport of biogenic compounds (alkenes and aldehydes) to the urban territory cause sharp changes of the kinetics and mechanism of organic aerosol generation in comparison with the processes taking place in typical urban atmosphere. Thus, in the presence of ozone, the yield of aerosol products from formaldehyde, acetaldehyde, and propanal photonucleation increases by a factor of 4–8, while for benzaldehyde and acrolein it exhibits 5- and 30-fold decrease, respectively. For aromatic substituted aldehydes and furfural, aerosol yield slightly increases (only up to 30 %). The results make it possible to carry out quantitative evaluation of the capacity of natural and anthropogenic sources of organic aerosol in the forest-steppe zone of Western Siberia and predict the biological effect of aerosol generated in the presence of various pollutants.
De la perspectiva pre-crítica a la filosofía crítica en el pensamiento holístico de Kant. 1770-2020
Authors: Lapoujade María Noel 
Published: July 2024

El núcleo de este texto es una lectura minuciosa, que no exhaustiva, de la Dissertatio. Sobre la forma y los principios del mundo sensible y del inteligible,hilo conductor de mi paper. A partir de allí, el artículo despliega nociones que se volverán claves en la futura filosofía crítica.
El método: consiste en tender puentes entre la Dissertatio y la obra crítica. De esta manera presento a Kant por él mismo.
Conclusión: en general planteo mi propuesta acerca del pensamiento holístico de Kant como un tejido integral total. En particular, aplico esta tesis al caso específico de la Geografía física y de la Antropología del punto de vista pragmático, en su relación con temas relevantes de la Dissertatio, profundizados en las tres Críticas entre otras obras de nuestro filósofo.
Incursión de Claudio Gutiérrez en informática, bases de datos, modelaje y planificación universitaria, con especial referencia a los años 1971-1973: el proyecto SIMULA
Authors: Chavarría-Chaves Juan Bautista 
Published: July 2024

Aquí se describe una obra particular de Claudio Gutiérrez, visionario filósofo costarricense, cuyo accionar abarcó muchos campos, incluyendo el de planificación académica universitaria, al cual hizo importantes contribuciones. Una que él desarrolló con gran visión al principio de la década de los años 1970 fue el proyecto SIMULA. Primero se describe el modelo que elaboró bajo este proyecto y el tipo de resultados que permitió a las autoridades universitarias establecer políticas para la institución. Seguidamente se relatan las condiciones y limitantes de la época, en cuanto a capacidad informática y en cuanto a disponibilidad de datos.