bluuebunny/crossref_metadata_2025_split huggingface dataset:
The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study
Authors: Mroczek Magdalena , Liu Jakub , Sypniewski Mateusz , Pieńkowski Tadeusz , Itrych Bartosz , Stojak Joanna , Pronobis-Szczylik Bartosz , Stępień Maria , Kaja Elżbieta , Dąbrowski Maciej , Suchocki Tomasz , Wojtaszewska Marzena , Zawadzki Paweł , Mach Anna , Sztromwasser Paweł , Król Zbigniew J. , Szyda Joanna , Dobosz Paula 
Published: February 2023

IntroductionPopulation-based cancer screening has raised many controversies in recent years, not only regarding the costs but also regarding the ethical nature and issues related to variant interpretation. Nowadays, genetic cancer screening standards are different in every country and usually encompass only individuals with a personal or family history of relevant cancer.MethodsHere we performed a broad genetic screening for cancer-related rare germline variants on population data from the Thousand Polish Genomes database based on 1076 Polish unrelated individuals that underwent whole genome sequencing (WGS). ResultsWe identified 19 551 rare variants in 806 genes related to oncological diseases, among them 89% have been located in non-coding regions. The combined BRCA1/BRCA2 pathogenic/likely pathogenic according to ClinVar allele frequency in the unselected population of 1076 Poles was 0.42%, corresponding to nine carriers.DiscussionAltogether, on the population level, we found especially problematic the assessment of the pathogenicity of variants and the relation of ACMG guidelines to the population frequency. Some of the variants may be overinterpreted as disease-causing due to their rarity or lack of annotation in the databases. On the other hand, some relevant variants may have been overseen given that there is little pooled population whole genome data on oncology. Before population WGS screening will become a standard, further studies are needed to assess the frequency of the variants suspected to be pathogenic on the population level and with reporting of likely benign variants.
Evaluation of Lee–Carter model to breast cancer mortality prediction in China and Pakistan
Authors: Mubarik Sumaira , Wang Fang , Luo Lisha , Hezam Kamal , Yu Chuanhua 
Published: February 2023

BackgroundPrecise breast cancer–related mortality forecasts are required for public health program and healthcare service planning. A number of stochastic model–based approaches for predicting mortality have been developed. The trends shown by mortality data from various diseases and countries are critical to the effectiveness of these models. This study illustrates the unconventional statistical method for estimating and predicting the mortality risk between the early-onset and screen-age/late-onset breast cancer population in China and Pakistan using the Lee–Carter model.MethodsLongitudinal death data for female breast cancer from 1990 to 2019 obtained from the Global Burden of Disease study database were used to compare statistical approach between early-onset (age group, 25–49 years) and screen-age/late-onset (age group, 50–84 years) population. We evaluated the model performance both within (training period, 1990–2010) and outside (test period, 2011–2019) data forecast accuracy using the different error measures and graphical analysis. Finally, using the Lee–Carter model, we predicted the general index for the time period (2011 to 2030) and derived corresponding life expectancy at birth for the female breast cancer population using life tables.ResultsStudy findings revealed that the Lee–Carter approach to predict breast cancer mortality rate outperformed in the screen-age/late-onset compared with that in the early-onset population in terms of goodness of fit and within and outside forecast accuracy check. Moreover, the trend in forecast error was decreasing gradually in the screen-age/late-onset compared with that in the early-onset breast cancer population in China and Pakistan. Furthermore, we observed that this approach had provided almost comparable results between the early-onset and screen-age/late-onset population in forecast accuracy for more varying mortality behavior over time like in Pakistan. Both the early-onset and screen-age/late-onset populations in Pakistan were expected to have an increase in breast cancer mortality by 2030. whereas, for China, it was expected to decrease in the early-onset population.ConclusionThe Lee–Carter model can be used to estimate breast cancer mortality and so to project future life expectancy at birth, especially in the screen-age/late-onset population. As a result, it is suggested that this approach may be useful and convenient for predicting cancer-related mortality even when epidemiological and demographic disease data sets are limited. According to model predictions for breast cancer mortality, improved health facilities for disease diagnosis, control, and prevention are required to reduce the disease’s future burden, particularly in less developed countries.
Leveraging intelligent optimization for automated, cardiac-sparing accelerated partial breast treatment planning
Authors: Pogue Joel A. , Cardenas Carlos E. , Cao Yanan , Popple Richard A. , Soike Michael , Boggs Drexell Hunter , Stanley Dennis N. , Harms Joseph 
Published: February 2023

BackgroundAccelerated partial breast irradiation (APBI) yields similar rates of recurrence and cosmetic outcomes as compared to whole breast radiation therapy (RT) when patients and treatment techniques are appropriately selected. APBI combined with stereotactic body radiation therapy (SBRT) is a promising technique for precisely delivering high levels of radiation while avoiding uninvolved breast tissue. Here we investigate the feasibility of automatically generating high quality APBI plans in the Ethos adaptive workspace with a specific emphasis on sparing the heart.MethodsNine patients (10 target volumes) were utilized to iteratively tune an Ethos APBI planning template for automatic plan generation. Twenty patients previously treated on a TrueBeam Edge accelerator were then automatically replanned using this template without manual intervention or reoptimization. The unbiased validation cohort Ethos plans were benchmarked via adherence to planning objectives, a comparison of DVH and quality indices against the clinical Edge plans, and qualitative reviews by two board-certified radiation oncologists.Results85% (17/20) of automated validation cohort plans met all planning objectives; three plans did not achieve the contralateral lung V1.5Gy objective, but all other objectives were achieved. Compared to the Eclipse generated plans, the proposed Ethos template generated plans with greater evaluation planning target volume (PTV_Eval) V100% coverage (p = 0.01), significantly decreased heart V1.5Gy (p&lt; 0.001), and increased contralateral breast V5Gy, skin D0.01cc, and RTOG conformity index (p = 0.03, p = 0.03, and p = 0.01, respectively). However, only the reduction in heart dose was significant after correcting for multiple testing. Physicist-selected plans were deemed clinically acceptable without modification for 75% and 90% of plans by physicians A and B, respectively. Physicians A and B scored at least one automatically generated plan as clinically acceptable for 100% and 95% of planning intents, respectively.ConclusionsStandard left- and right-sided planning templates automatically generated APBI plans of comparable quality to manually generated plans treated on a stereotactic linear accelerator, with a significant reduction in heart dose compared to Eclipse generated plans. The methods presented in this work elucidate an approach for generating automated, cardiac-sparing APBI treatment plans for daily adaptive RT with high efficiency.
High GNG4 predicts adverse prognosis for osteosarcoma: Bioinformatics prediction and experimental verification
Authors: Jiang Xiaohong , Tang Fuxing , Zhang Junlei , He Mingwei , Xie Tianyu , Tang Haijun , Liu Jianhong , Luo Kai , Lu Shenglin , Liu Yun , Lu Jili , He Maolin , Wei Qingjun 
Published: February 2023

BackgroundGuanine nucleotide binding (G) protein subunit γ 4 (GNG4) is closely related to the malignant progression and poor prognosis of various tumours. However, its role and mechanism in osteosarcoma remain unclear. This study aimed to elucidate the biological role and prognostic value of GNG4 in osteosarcoma.MethodsOsteosarcoma samples in the GSE12865, GSE14359, GSE162454 and TARGET datasets were selected as the test cohorts. The expression level of GNG4 between normal and osteosarcoma was identified in GSE12865 and GSE14359. Based on the osteosarcoma single-cell RNA sequencing (scRNA-seq) dataset GSE162454, differential expression of GNG4 among cell subsets was identified at the single-cell level. As the external validation cohort, 58 osteosarcoma specimens from the First Affiliated Hospital of Guangxi Medical University were collected. Patients with osteosarcoma were divided into high- and low-GNG4 groups. The biological function of GNG4 was annotated using Gene Ontology, gene set enrichment analysis, gene expression correlation analysis and immune infiltration analysis. Kaplan–Meier survival analysis was conducted and receiver operating characteristic (ROC) curves were calculated to determine the reliability of GNG4 in predicting prognostic significance and diagnostic value. Functional in vitro experiments were performed to explore the function of GNG4 in osteosarcoma cells.ResultsGNG4 was generally highly expressed in osteosarcoma. As an independent risk factor, high GNG4 was negatively correlated with both overall survival and event-free survival. Furthermore, GNG4 was a good diagnostic marker for osteosarcoma, with an area under the receiver operating characteristic curve (AUC) of more than 0.9. Functional analysis suggested that GNG4 may promote the occurrence of osteosarcoma by regulating ossification, B-cell activation, the cell cycle and the proportion of memory B cells. In in vitro experiments, silencing of GNG4 inhibited the viability, proliferation and invasion of osteosarcoma cells.ConclusionThrough bioinformatics analysis and experimental verification, high expression of GNG4 in osteosarcoma was identified as an oncogene and reliable biomarker for poor prognosis. This study helps to elucidate the significant potential of GNG4 in carcinogenesis and molecular targeted therapy for osteosarcoma.
Multiple Weyl and double-Weyl points in the phonon dispersion of P4332 BaSi2
Authors: Li Yang 
Published: February 2023

Weyl semimetals, classified as solid-state crystals and whose Fermi energy is accurately situated at Weyl points (WPs), have received much attention in condensed matter physics over the past 10 years. Weyl quasiparticles have been observed in the electronic and bosonic regimes, in addition to the extensive amount of theoretical and numerical predictions for the Weyl semimetals. This study demonstrates that 12 single Weyl phonons with linear dispersion and six double Weyl phonons with quadratic dispersion coexist between two specific phonon branches in real material P4332 BaSi2. The 12 single Weyl phonons and the six double Weyl phonons can form a Weyl complex phonon, which hosts a zero net chirality.
Natural or artificial: An example of topographic spatial distribution analysis of mescaline in cactus plants by matrix-assisted laser desorption/ionization mass spectrometry imaging
Authors: Lin Jiaman , Yang Shuo , Ji Jiaojiao , Xiang Ping , Wu Lina , Chen Hang 
Published: February 2023

IntroductionDifferentiating whether plant products are natural or artificial is of great importance in many practical fields, including forensic science, food safety, cosmetics, and fast-moving consumer goods. Information about the topographic distribution of compounds is an important criterion for answering this question. However, of equal importance is the likelihood that topographic spatial distribution information may provide important and valuable information for molecular mechanism study.MethodsIn this study, we took mescaline, a substance with hallucinogenic properties in cacti of the species Trichocereus pachanoi and Lophophora williamsii, as an example to characterize the spatial distribution of mescaline in plants and flowers by liquid chromatograph-mass spectrometry–matrix-assisted laser desorption/ionization mass spectrometry imaging at the macroscopic, tissue structure, and even cellular levels.ResultsAccording to our results, the distribution of mescaline in natural plant was concentrated on the active meristems, epidermal tissues, and protruding parts of Trichocereus pachanoi and Lophophora williamsii, while artificially spiked Lophophora diffusa products showed no such difference in their topographic spatial distribution.DiscussionThis difference in distribution pattern allowed us to distinguish between flowers that could synthesize mescaline on their own and those that had been artificially spiked with mescaline. The interesting topographic spatial distribution results, such as the overlap of the mescaline distribution map and micrographs of the vascular bundles, were consistent with the synthesis and transport theory of mescaline, indicating the potential for applying matrix-assisted laser desorption/ionization mass spectrometry imaging in botanical research.
Perception of extreme hot weather and the corresponding adaptations among older adults and service providers–A qualitative study in Hong Kong
Authors: Lai Eric T. C. , Chau Pui Hing , Cheung Ken , Kwan Michelle , Lau Kevin , Woo Jean 
Published: February 2023

BackgroundExtreme hot weather events are happening with increasing frequency, intensity and duration in Hong Kong. Heat stress is related to higher risk of mortality and morbidity, with older adults being particularly vulnerable. It is not clear whether and how the older adults perceive the increasingly hot weather as a health threat, and whether community service providers are aware and prepared for such future climate scenario.MethodsWe conducted semi-structure interviews with 46 older adults, 18 staff members of community service providers and two district councilors of Tai Po, a north-eastern residential district of Hong Kong. Transcribed data were analyzed using thematic analysis until data saturation was reached.ResultsIt was agreed upon among the older adult participants that the weather in recent years has become increasingly hot and this led to some health and social problems for them, although some participants perceived that hot weather did not have any impact in their daily lives and they were not vulnerable. The community service providers and district councilors reported that there is a lack of relevant services in the community to support the older adults in hot weather; and there is generally a lack of public education regarding the heat-health issue.ConclusionsHeatwaves are affecting older adults' health in Hong Kong. Yet, discussions and education effort regarding the heat-health issue in the public domain remain scarce. Multilateral efforts are urgently needed to co-create a heat action plan to improve community awareness and resilience.
Social media sites users' choice between utilitarian and informational reinforcers assessed using temporal discounting
Authors: Robayo-Pinzon Oscar , Rojas-Berrío Sandra , Paredes Mario R. , Foxall Gordon R. 
Published: February 2023

ObjectiveThis study provides a first approach to the use of the Multiple-Choice Procedure in social media networks use, as well as empirical evidence for the application of the Behavioral Perspective Model to digital consumption behavior in young users in conjunction with a methodology based on behavioral economics.Participants/methodsThe participants were part of a large university in Bogotá, Colombia, and they received an academic credit once they completed the online questionnaire. A total of 311 participants completed the experiment. Of the participants, 49% were men with a mean age of 20.6 years (SD = 3.10, Range = 15–30); 51% were women with a mean age of 20.2 years (SD = 2.84, Range = 15–29).ResultsAmong the total participants, 40% reported that they used social networks between 1 and 2 h a day, 38% between 2 and 3 h, 16% for 4 h or more, and the remaining 9% used them for 1 h or less per day. The factorial analysis of variance (ANOVA) allowed us to identify a statistically significant effect of the delay of the alternative reinforcer, that is, the average crossover points were higher when the monetary reinforcer was delayed 1 week, compared to the immediate delivery of the monetary reinforcer. There was no statistically significant effect of the interaction between the magnitude of the reinforcer and the delay time of the alternative reinforcer.ConclusionsThis study supports the relative reinforcing value of an informational reinforcement consequence such as social media use, which is sensitive to both the magnitude of reinforcement and the delay in delivery as individual factors. The findings on reinforcer magnitude and delay effects are consistent with previous research that have applied behavioral economics to the study of non-substance-related addictions.
Exploring a faith-based approach to puberty education in Tanzania
Authors: Teizazu Hawi , Gruer Caitlin , Mandara Elisia , Sommer Marni 
Published: February 2023

BackgroundMany adolescents in Tanzania do not receive timely and comprehensive puberty education. This study explored faith-based organizations a site for puberty education. Two puberty books, each developed through participatory research with Tanzanian adolescents and stakeholders, were promoted to 177 Christian denomination churches in Dar es Salaam, Tanzania to understand the factors that faith leaders considered in their decision to purchase puberty books, or share information about the intervention to their peers and congregants.MethodsData collection included routine monitoring via weekly reports and ethnographic observation. Data were analyzed using the Ecological Framework for Health Promotion to capture how individual, interpersonal, and institutional factors influenced leaders' decisions to purchase or promote puberty books.ResultsAt the individual level, leaders cited their personal experiences in their support for the intervention, but leaders' time and confidence in their ability to effectively promote books to others were barriers to participation. Interpersonally, the diffusion of information between church leaders, particularly when information came from well-known or respected leaders, emerged as an important factor in leaders' willingness to promote books. At the institutional level, leaders' decisions were impacted by resources, institutional culture, and institutional hierarchy. Importantly, twelve churches in the sample purchased books. Limited financial resources and the need to receive approval from denominational leaders were discussed by leaders as barriers to purchasing books.ConclusionsDespite research showing high religiosity in Tanzania, the role of religious institutions in providing puberty education has remained unexplored. Our results inform future research and practice by providing an articulation of the socioecological factors that played a role in faith leaders' decisions related to puberty education interventions in Tanzania.
Manajemen Supervisi Klinis Kepala Sekolah dalam Meningkatkan Proses Pembelajaran di SMK IT Khoiru Ummah Rejang Lebong
Authors: Jalilah Jalilah , Hamengkubuwono Hamengkubuwono , Istan Muhammad 
Published: February 2023

<p><em>Sepervisi klinis ini dilakukan mengingat SMKIT Khoiru Ummah memiliki tenaga pengajar yang umumnya berlatar belakang bukan dari dunia pendidikan. Selain itu, ada beberapa tenaga pengajar yang baru menyelesaikan pendidikan atau fresh graduate sehingga memerlukan bantuan untuk mengatasi kesulitan dalam landasan pengajaran dengan cara membimbing guru tersebut memilih metode mengajar, dan mempersiapkan guru tersebut untuk mampu melaksanakan tugasnya dengan kreativitas yang tinggi dan otonom sebagai guru. Penelitian ini bertujuan untuk menguraikan perencanaan (planning), pengorganisasian (organizing, pelaksanaan (actuating) dan evaluasi (controling) pada manajemen supervisi klinis kepala sekolah dalam meningkatkan proses pembelajaran di SMK IT Khoiru Ummah Rejang Lebong. Penulis menggunakan pendekatan penelitian kualitatif dengan jenis penelitian deskriptif kualitatif yaitu penelitian yang mendeskripsikan atau menggambarkan keadaan atau status fenomena, Pengumpulan data menggunakan teknik observasi dan wawancara yang dilakukan dengan kepala sekolah, guru serta siswa. Hasil dari penelitian ini adalah (1) Perencanaan (planning) dengan menetukan strategi secara menyeluruh serta merumuskan sistem perencanaan yang menyeluruh untuk mengintegrasikan dan mengkoordinasikan seluruh tugas dan tanggung jawab hingga tercapainya proses pembelajaran yang ideal; (2) Pengorganisasian (organizing) dengan menciptakan hubungan yang baik dengan cara menjelaskan makna supervisi klinis sehingga partisipasi guru meningkat,mereview rencana pelajaran serta tujuan pelajaran.; (3) Pelaksanaan (actuating) yaitu kepala sekolah secara langsung mengawasi kegiatan pendidik dalam melakukan tugas utamanya, mengajar, menggunakan alat, metode dan teknik mengajar, observasi secara cermat,; (4) Evaluasi (controling) yaitu Kepala sekolah memberikan penguatan terhadap penampilan pendidik, memberikan dorongan moral bahwa pendidik mampu memperbaiki kekurangannya.</em></p>
التتابعية في بنية انتقالات الجذب لتصاميم الفضاءات الداخلية المعاصرة
Authors: م. محمد جارالله توفيق  
Published: February 2023

أن التصميم الداخلي يعد من بين أهم الحلقات التي تدخل في صميم العملية الاتصالية ، حتى أصبحت هذه الحلقات مجالاً واسعاً للبحث والتقصي، لذلك تبقى القوى الفاعلية الأدائية التي تؤسس الى تتابعية بنية انتقالات الجذب في تصاميم الفضاءات الداخلية المعاصرة وتحديداً في التصميم الداخلي لقاعات الاعراس العربية ضرورة أساسية للوصول إلى افضل الإجابات التي يتساءل حولها الباحثون والعاملون في هذا المجال، لذا فإن الحاجة إلى دراسة هذا الموضوع وجدها الباحث جديرة بالاهتمام والبحث وبالتالي تساعد في إرساء بعض المرتكزات النظرية للعمليات التصميمية، لذلك كان لابد من الخروج بموقف يوضح تتابعية انتقالات الجذب وعلاقتها بالتصميم الداخلي لقاعات الاعراس العربية وبما ينسجم وخصوصية موضوع البحث المتكون من (اربعة فصول) مما جعلها تشكل حقلاً خصباً للدراسة في البحث النظري والتحليلي. ولهذا وجد الباحث ضمن الفصل الاول صياغة مشكلة البحث التي تتلخص بالتساؤل الاتي : ما هي القوى الفاعلية الأدائية التي تؤسس الى تتابعية بنية انتقالات الجذب في تصاميم الفضاءات الداخلية المعاصرة ؟،بينما تأتي اهمية البحث في تطوير العمليات الأدائية لتصاميم الفضاءات الداخلية المعاصرة الخاصة بقاعات الاعراس العربية ، كما يساهم البحث على إرساء مرتكزات نظرية مع إيضاح الجوانب الفكرية والتطبيقية لعمليات تتابعية انتقالات الجذب في تصاميم قاعات الاعراس العربية ،وما لها من فائدة للعاملين في هذا المجال ، وعلى ضوء ذلك ركز الباحث هدف البحث في الكشف عن إيجاد مرتكزات نظرية من خلال التعرف على القوى الفاعلية الأدائية التي تؤسس الى التتابعية في بنية انتقالات الجذب لتصاميم الفضاءات الداخلية الخاصة بقاعات الاعراس العربية المعاصرة ، أما بالنسبة لحدود البحث فقد ’حدد من الناحية الموضوعية بدراسة التتابعية في بنية انتقالات الجذب لتصاميم الفضاءات الداخلية المعاصرة في حين تضمن حدوده المكانية والزمانية الفضاءات الداخلية والمتمثلة(بقاعات الاعراس العربية)،(المنفذة للفترة 2010_2016م.) ، بينما تضمن الفصل الثاني دراسة القوى الفاعلية الأدائية المؤسسة الى تتابعية بنية انتقالات الجذب ، معتمدا ً على دراسة أ – القوى الفاعلة المظهرية ب- القوى الفاعلة الموضوعية ،أما الفصل الثالث فقد تخصص في تحديد موضوع اجراءات البحث والمتمثلة بمنهجية البحث المعتمدة على المنهج الوصفي التحليلي أما مجتمع البحث فقد اعتمد على الاسلوب الانتقائي القصدي ...بينما تضمن الفصل الرابع استخلاص نتائج البحث والذي كان من أهمها اعتماد المصمم الداخلي الى التنوع في القوى الفاعلة المظهرية والموضوعية بحسب موقعها مما ادى الى تنوع علاقاتها ، مما حقق الى إظهار تجاذبات تتابعية انتقالية متنوعة التنظيم ضمن سياق تسلسلي متناغم ، كما أظهرت قدرة المصمم في احداث التوافق ضمن التتابعية في بنية انتقالات الجذب منذ بدأً الفكرة التي هي أساس الفعل التصميمي ليتحول لاحقاً إلى توليف مادي مرئي، كما أرتبط التذوق التصميمي في كيفية تطويع العلاقة الشكلية الفضائية استناداً إلى التنوع الفضائي الذي كان متعلقاً بالإدراك الكلي للفعل المتصل بتقنيات اظهار الناتج التصميمي لقاعات الاعراس المنتخبة.