bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss
Authors: Lei Peiliang , Zhu Qingwen , Dong Wenrong , Zhang Siqi , Sun Yanyan , Du Xitong , Geng Meng , Jiang Yuan 
Published: November 2022

Background
Hearing loss is considered one of the most common sensory nervous system defects, about 60% of which are caused by genetic factors. Mutations in the GSDME gene are responsible for post-lingual, progressive, autosomal dominant hearing loss. This study aimed to characterize the genetic mutations and clinical features of a Chinese GSDME family.

Methods
After clinical evaluations, high-throughput DNA sequencing was conducted using DNA samples from this family. Sanger sequencing was performed to verify the suspected variants. A detailed genotype and phenotype analysis were carried out. Gene set enrichment analysis (GSEA) was performed to identify the signaling pathway associated with GSDME expression.

Results
A known hotspot heterozygous splice-site variation (c.991-15_991_13delTTC) was identified and shown to segregate with the hearing loss phenotype in the family. This pathogenic splice-site variant results in skipping of exon 8. GSEA analysis identified changes in regulation of the cell cycle checkpoint, peroxisome, and amino acid metabolism signaling pathways.

Conclusions
We identified a reported mutation in the GSDME gene. Our findings support the 3 bp deletion (c.991-15_991-13del) was a hotspot variation, and it emerged as an essential contributor to autosomal dominant progressive hearing loss in East Asians. GSDME gene is closely associated with a range of signaling pathways. These characterized findings may provide new evidence for pathogenesis.
Auf dem Weg zum Dritten Ort
Authors: Kaufer Marion 
Published: November 2022

Zusammenfassung
In den Jahren 2020/2021 wurde der Eingangsbereich der Vorarlberger Landesbibliothek in Bregenz umgebaut und modernisiert. Als Ergebnis des Bauvorhabens verändert das neue Eingangsportal nicht nur die grundlegende Betrachtungsweise des Gebäudekomplexes, sondern schafft mit neuen Räumlichkeiten einen Ort zur Begegnung und Interaktion. Der Artikel beschreibt die verschiedenen Bauphasen, unterschiedliche Herausforderungen des Bauprojekts und die Stärkung des Dritten Orts.
Metrology in health: challenges and solutions in infusion therapy and diagnostics
Authors: Metaxiotou Zoe , Bissig Hugo , Batista Elsa , do Céu Ferreira Maria , Timmerman Annemoon 
Published: November 2022

Abstract
The significance of Metrology in infusion therapy and diagnostics, both critical in health care safety and quality, is discussed in this article. Although infusion therapy is the most used form of drug administration, infusion errors are often made with reported dramatic effects in different applications, especially in neonatology. Adverse incidents, morbidity, and mortality have often been traced back to poor or inaccurate dosing. For critical infusion applications to vulnerable patients, well-controlled medication administration might be accomplished by improved dosing accuracy, traceable measurement of volume, flow, and pressure in existing drug delivery devices and in-line sensors operating at very low flow rates. To this end, the contribution of recently upgraded metrological infrastructures in European Metrology Institutes to a safer infusion therapy in health care is described in detail. Diagnostics, on the other hand is a sector characterized by rapid developments further triggered recently by the necessity for the management and prevention of infectious diseases like COVID-19. In this context, the impact of metrology in future large-scale commercialization of next generation diagnostics (e.g., point-of-care) is highlighted. Moreover, the latest contributions of Metrology in the development of traceable testing methods and protocols to ensure the sensitivity and accuracy of these devices are described.
“Taken to German Villages and Liquidated.” The “Selbstschutz” Organization and the Bogdanovka Massacre in 1941
Authors: Hillen Aiko 
Published: November 2022

Abstract
The killing of up to 40,000–50,000 Jews in Bogdanovka in the winter of 1941–1942 represented one of the largest murder operations carried out during the Holocaust outside of Auschwitz, Sobibor and Treblinka extermination camps. The massacre was the result of a cooperation between the German "Sonderkommando Russland" with the support of the "volksdeutscher Selbstschutz" as well as the Romanian gendarmes and their Ukrainian auxiliary forces. This article examines this massacre in three different aspects. The first part reconstructs how Transnistria was administered on a bilateral level between Nazi Germany and fascist Romania, and became a place of mass extermination. The second part of the article deals with the reconstruction of the massacre in a micro-historical perspective by using chiefly eyewitness interviews of local residents. The last part of this work, which is based on an organizational sociological approach, examines the mobilization and willingness to kill of those ethnic Germans who were recruited by the Sonderkommando Russland.
A multivariate analysis of causativedoand causativemakein Middle English
Authors: Moretti Lorenzo 
Published: November 2022

AbstractMiddle English had a rich inventory of verbs that could be used as causatives in periphrastic (or analytic) constructions. Interestingly, we see that two verbs likedoandmake, which share several similarities in their basic meaning, are both used as causative verbs. The present paper explores the relationship and the uses of causativedoand causativemakewith an infinitive complement in the Middle English period. By means of a Multiple Correspondence Analysis (MCA), it will be investigated which semantic domains are more distinctively associated with each verb. The results of the statistical analysis will shed light on the semantic features that characterise these two verbs in Middle English. In addition, the quantitative analysis will help us understand whymakebegan to be used as a causative verb and how productive these verbs were in Middle English.
Assessment of malformations, variations and diameters of vessels forming the circle of Willis – An autopsy study in a non-cerebrovascular cohort
Authors: Orosz László , Gyöngyösi Zoltán , Susán Zsolt , Siró Péter , Hoksbergen Arjan Willem , Csiba László , Fülesdi Béla 
Published: November 2022

Abstract

Background a purpose
The collateral capacity of the circle of Willis (CoW) may play an important role in the development of ischemic strokes. The occurrence of classical polygon shows wide geographical variations and morphological data on diameters of the Willisian collaterals are scarce. We aimed to assess CoW variations and vessel diameters in a Central European cohort.

Subjects and methods
CoWs were removed during routine autopsy. The morphological pattern of the circles was recorded. The prepared circles were then put between two glass plates and tightly compressed. The length of the vessels and half of the circumference were measured under a light microscope enabling measurement with an approximation of 0.1 mm. Vessel diameters were calculated from vessel circumference.

Results
A total of 110 circles were analysed. Incomplete circles (missing one or two segments of CoW) were found in 25 cases (22.7%). Any forms of anatomical variations were detected in 14 cases (12.7%). When applying the <1 mm diameter threshold for analysis, 36 anterior communicating arteries (32.7%), 53 right posterior communicating arteries (48.2%), 73 left posterior communicating arteries (66.4%) and 18 posterior communicating arteries (16.3%) on both the sides were considered hypoplastic.

Conclusions
In patients without stroke in their history, complete CoW may be present in >60% of the cases. Our diameter data may serve as reference values for the Central-European population.
Isolation and purification of 12 flavonoid glycosides from Ginkgo biloba extract using sephadex LH-20 and preparative high-performance liquid chromatography
Authors: Li Ping , Sun Hao , Li Wei , Wu Qi , Ye Shuhong , Zhu Jingbo , Ding Yan 
Published: November 2022

Abstract
An efficient and rapid preparative method for the separation and purification of flavonoid glycosides from the Ginkgo biloba extract (GBE) was developed by sephadex LH-20 and preparative high-performance liquid chromatography (HPLC). 40 g GBE of 24% flavonoids were loaded onto the sephadex LH-20 column and five fractions (1.15, 2.57, 1.32, 4.45, and 3.31 g) at flavonoid content of 72.3, 54.2, 63.5, 51.2, and 59.2% were produced. Ultimately, 12 flavonoid glycosides that are at least purities of 97.7% were obtained from 100 mg of each fraction by preparative HPLC. The fraction A, B, and D each contained two flavonoids, yielded 35, 30, 23, 20, 25, and 25 mg, respectively. The fraction C and E each contained three flavonoids, produced 20, 13, 15, 18, 15, and 20 mg, respectively. The chemical structures of the purified compounds were identified by nuclear magnetic resonance (NMR) and electrospray ionization mass spectrometry (ESI/MS).
Higher Education and the COVID-19 Pandemic. Cross-national Perspectives on the Challenges and Management of Higher Education in Crisis Times
Authors: Fetter Bálint 
Published: November 2022

Fetter Bálint a következő művet mutatta be:
Higher Education and the COVID-19 Pandemic. Cross-national Perspectives on the Challenges and Management of Higher Education in Crisis Times. Edited by: Fulufhelo Netswera; Ayenachew A. Woldegiyorgis And Tatiana Karabchuk. Brill, 410 P.
The Influence of Socio-Cultural Factors on Oocyte Donors' Motivations and Disclosure Decisions
Authors: Polyakova Irina G. , Mazurov Dmitry O. , Symanyuk Elvira E. , Khramtsova Aleksandra Yu. 
Published: November 2022

The study focuses on the motivations of Russian oocyte donors and the socio-cultural factors affecting these motivations. We conducted 16 semi-structured interviews with actual or prospective oocyte donors. All of them were patients of two fertility clinics located in the city of Yekaterinburg (Russia) planning to become oocyte donors within the period from 2 weeks to 3 months. We built a profile of a Russian oocyte donor: it is a 26-year-old married woman with at least one child; she has a secondary vocational education and a low income. All the women in our study displayed multiple motivations: apart from the interest in a financial reward and purely altruistic motivations, for many women the decisive factor is their desire to help their friends or relatives struggling with infertility. Interestingly, almost all of our respondents described their decision to donate as an attempt to move past a traumatic situation they once endured and to achieve closure by doing something really important and good. For many women, oocyte donation becomes a way to boost their self-esteem, to feel more significant and to promote their personal autonomy. As for barriers to donation, one of the most important is associated with the donors' unwillingness to make their identity known and to share this information even with their close circle of friends and relatives. For the majority of donors, anonymity is crucial. The disclosure of this information, in their view, will cause controversy in the donor's family and immediate circle of friends at present and will threaten their privacy in the future. The prospective donors are also concerned about the negative public attitudes or lack of understanding.
ISPO: A Serious Game to train the Interview Skills of Police Officers
Authors: Guimarães Manuel , Prada Rui , Santos Pedro A. , Dias João , Soeiro Cristina , Guerra Raquel , Steiner-Stanitznig Christina , Molinari Andrea 
Published: November 2022

The Interview Simulation for Police Officers (ISPO) is a serious game developed to train police officers in communication competencies related to the interview of victims, witnesses and suspects. It was developed by Gameware Europe in collaboration with the Portuguese Police (Policia Judiciaria) within the RAGE project. The ISPO serious game was created using the modern methodologies and practices that are used in real-life police interviews. The focus of the game is on the training of communication competencies regarding gathering information from both victims and offenders.
In order to evaluate the training effectiveness of the game, we conducted a study with 194 participants where general subjective learning effectiveness, using the Perceived Competence subscale of the IMI questionnaire, and domain-specific subjective learning effectiveness using the Police Interview Competency Inventory (PICI) were measured. Overall, ISPO improved the self-perceived competence of its players. Additionally, participants changed their opinion about the attitude to conduct a successful interview. Participants’ level of importance attributed to being dominant diminished and the level of importance attributed to being more benevolent and communicative during police interviews increased. Effects were stronger in inexperienced users leading us to believe that the game is an added value for use in a police officer school.
Infección experimental cerebral con cisticercosis en ovejas
Authors: Sota Katherine A. , Bustos Javier A. , Verastegui Manuela R. , Toribio Luz , Chile Nancy , Angulo Noelia , Cangalaya Carla , Calcina Juan , González Armando E. , Gilman Robert H. , García Héctor H. 
Published: November 2022

Objetivo. Explorar la viabilidad de desarrollar un modelo de neurocisticercosis (NCC) de oveja mediante infección intracraneal de oncosferas de T. solium. Materiales y métodos. Se realizó un modelo de infección experimental de NCC en ovejas. Se inocularon aproximadamente 10 posoncósferas de T. solium cultivadas previamente por 30 días por vía intracraneal en diez ovejas. Las oncósferas, en 0,1 mL de solución salina fisiológica, se inyectaron en el lóbulo parietal a través de una aguja de calibre 18. Resultados. Después de tres meses, en dos ovejas se encontraron granulomas y en una tercera identificó un quiste de 5 mm de diámetro en el ventrículo lateral derecho y la evaluación histológica confirmó que el quiste corresponde a una larva de T. solium. También se utilizó inmunohistoquímica con anticuerpos monoclonales dirigidos contra componentes de membrana y antígenos excretorios/secretorios del quiste de T. solium para confirmar la etiología de los granulomas encontrados. Uno de ellos mostro reactividad ante los anticuerpos monoclonales utilizados, confirmando así que se trató de un cisticerco Conclusión. Este experimento es la prueba de concepto de que es posible infectar ovejas con cisticercosis por inoculación intracraneal.
Management of aseptic non-union of shaft femur using intramedullary nailing combined with bone grafting: a case report
Authors: Rengerla Saikrishna B. , Lohkare Akhil H. , Warade Nikhil R. , Roy Supratim , Wankhede Aniket K. 
Published: November 2022

<p>Despite the advances in trauma care, improved surgical techniques, latest implants and therefore the evolution of new adjuvants to healing, biologic agents, non-union still persists thanks to high energy trauma as initial event. Non-union of femur shaft represents a significant socioeconomic problem to the patient, related to prolonged patient morbidity, inability to return to figure, gait abnormality, re-operations and psycho-emotional impairment. Here we discuss the case of such non-union of fracture shaft femur presented to us with shortening of 3.5 cm managed with bone graft and intramedullary nailing. 22-year-old male patient had a history of trauma due to fall from bike due to dash from behind by tractor (high velocity road traffic accident) sustaining injury over right thigh leading to closed fracture mid-shaft femur of the same side treated immediately by femur nailing. After 6 months post-surgery, he noticed swelling over operated thigh which was increasing and causing difficulty in walking. X-rays revealed broken nail, re-operated at the same centre with dynamic compression plating (DCP) probably after freshening the fracture edges using 12-hole DCP, implant failure with whole plate and screw construct extrusion and re-fracture at the same site. This time patient presented to our institute. We planned of implant removal and intramedullary nailing with bone grafting. Management of aseptic femoral non-union with fracture gap of 2.5-4 cm range with intramedullary nailing combined with autologous fibular cortical and cancellous grafts showed good functional results at the end of 1 year post operative interval after prior repetitive failure of implants due to non-union. </p>
Mechanisms of intercultural competence formation in teaching foreign languages
Authors: Akhmetova Gulnara , Ryspayeva Dinara , Zhukenova Alma , Zhumagulova Natalya 
Published: November 2022

The purpose of this research is to obtain teachers' opinions on the development of communication skills of preschool children through information technologies. This research is in the case study model, which is one of the qualitative research designs. The participant group of the research consists of 40 preschool teachers who are teaching in various preschool education institutions in Almaty, Kazakhstan, in the 2021–2022 academic year. Research data were collected with the semi-structured interview form developed by the researchers. As a result of the research, majority of the preschool teachers stated that they frequently benefit from information technologies in the development of preschool children's communication skills. They also stated permanence in learning, increasing interest and attention, being educational and entertaining, the ease it provides in learning, the opportunity to raise technology literate children and saving time as the advantages of using information technologies in the development of preschool children's communication skills. They stated the problems experienced in choosing appropriate content, the technological infrastructure problems of the school, the technology addiction and the technological pedagogical inadequacy of the teachers as the disadvantages of using information technologies in the development of communication skills of preschool children. Based on the results of the research, in order to eliminate the deficiencies in teachers' technological pedagogical content knowledge, it is necessary to organise regular in-service training programmes.
Keywords: Preschool teachers, information technologies, communication skills, preschool children;
Cost control and realization of national government constituencies development fund projects in Kikuyu constituency, Kiambu county, Kenya
Authors: Kamau Susan , Gesimba Paul Omato , Gichuhi David 
Published: November 2022

Project cost control aims at controlling changes to the project budgeted cost in the contract document. Available data shows that the area of project management is riddled with project failure and cost overruns. This study sought to establish the influence of cost control on the realization of NG-CDF projects in Kikuyu Constituency, Kiambu County, Kenya. A descriptive cross-sectional survey design was adopted for this study. National Government Constituencies Development Fund projects in Kikuyu Constituency were the unit of observation, while members of the project management committees were the unit of analysis. A sample of 259 respondents was used. A structured questionnaire was used to collect data. Descriptive and chi-square analyses were used to analyze data with the help of SPSS. The majority (62.9%) of the respondents indicated that the project they were involved in was incomplete. Slightly half (58.5%) of the respondents indicated that the project was not on a budget. Results showed that 37.5% of the respondents cited inadequate money, 35.5% cited disbursement challenges, and 31.5% indicated price fluctuations as challenges experienced in the cost control of the projects. There was a significant relationship (p=0.021) between cost control on the realization of NG-CDF projects in Kikuyu Constituency, Kiambu County, Kenya. The study concluded that cost control influences the realization of NG-CDF projects in Kikuyu Constituency, Kiambu County, Kenya. There is a need for CDF committees to conduct research for products and services needed in the planning stages of NGCDF projects. This will enable better cost control which ultimately leads to higher project realization.
Kajian Arsitektur Biophilic pada Arsitektur Tradisional Bali sebagai Pendukung Ekowisata di Bali (Studi Kasus: Rumah Adat Bali)
Authors: Artha Pande Putu Dwi Novigga , Warnata Nyoman , Putri Anasta 
Published: November 2022

<p class="Abstract"><em>The development of the times indirectly affects human needs which have an impact on all aspects of human life, psychology, lifestyle to architecture. There are several rules of Traditional Balinese Architecture that contrast or are not suitable when combined with modern architecture that is in demand by today's society. However, if ecotourism buildings in Bali follow the architectural trend in the world, it will violate the Bali Regional Regulation and Bali will lose its architectural identity. There is a gap between traditional Balinese architecture that must be applied with modern architecture which is the current trend. Biophilic Architecture is building's connection to the environment will affect the health of the community both physically and psychologically. In general, the Biophilic approach and Traditional Balinese Architecture are both environmentally based. Therefore, Biophilic Architecture can be a bridge between Traditional and Modern Architecture. Using comparative quantitative research methods with biophilic as an indicator of assessing traditional Balinese architecture, the results of modern architecture guidelines that have environmental-based traditional rules will be obtained. This research is expected to be a guide or reference in designing ecotourism buildings that are modern but still strong in their traditional Balinese identity.</em></p>
Prospects and State of the Glass Industry in Saudi Arabia and a preliminary assessment of the quality of Glass and Glass-Ceramics Fabrication
Authors: Mahmoud Essam R. I. , Shaharoun Awaluddin Mohamed , Aljabri Abdulrahman , Almohamadi Hamad , Farhan Mohammed 
Published: November 2022

Although the economic value of glass products and its importance to the Saudi National Economy is vast, not much information is available about the current state of the art of the industry. Likewise little information is available about the geography, potential sites for mining sand as well as the evaluation of sand quality. This paper attempts to bridge this gap by presenting a feasibility study of fabricating normal glass and glass ceramics from Saudi Arabia’s domestically available raw materials. It discusses the current status of glass industry in Saudi Arabia and the Middle East region. It also gives a brief explanation about the sand topography in Saudi Arabia. In order to determine the feasibility of fabricating glass using these raw materials, experimental data on the fabrication of normal glass and glass-ceramics from indigenously available raw materials was obtained and reported as part of the findings of this paper Firstly, normal transparent glass were able to be fabricated without any apparent large defects using sand collected from Ar-Rayis region in Saudi Arabia. Four nano-sized crystallization catalysts, namely VC, WC, TiC and Y<sub>2</sub>O<sub>3</sub>, were added to the constituents of the glass in 3 wt.%. For VC, the crystallization process was limited. The glass ceramics of WC consisted of multi-dimensional edges crystals which covered all the matrix. Gray crystalline whiskers were obtained by addition of TiC. The Y<sub>2</sub>O<sub>3</sub>- glass ceramics consisted of multi-directionally rosette crystals. Finally, the microhardness values of the added crystallization catalysts glass ceramics were obtained and found to be much higher compared to normal glass. The results show that glass of high quality can be produced specifically for Ar—Rayis region which would be of interest to researchers, glass industry personnel and potential investors