bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
Authors: Lam Ching-Wan 
Published: November 2021

Abstract

Objectives
Most rare diseases are genetic diseases. Due to the diversity of rare diseases and the high likelihood of patients with rare diseases to be undiagnosed or misdiagnosed, it is not unusual that these patients undergo a long diagnostic odyssey before they receive a definitive diagnosis. This situation presents a clear need to set up a dedicated clinical service to end the diagnostic odyssey of patients with rare diseases.

Methods
Therefore, in 2014, we started an Undiagnosed Diseases Program in Hong Kong with the aim of ending the diagnostic odyssey of patients and families with rare diseases by clinical whole-exome sequencing (CWES), who have not received a definitive diagnosis after extensive investigation.

Results
In this program, we have shown that genetic diseases diagnosed by CWES were different from that using traditional approaches indicating that CWES is an essential tool to diagnose rare diseases and ending diagnostic odysseys. In addition, we identified several novel genes responsible for monogenic diseases. These include the TOP2B gene for autism spectrum disorder, the DTYMK gene for severe cerebral atrophy, the KIF13A gene for a new mosaic ectodermal syndrome associated with hypomelanosis of Ito, and the CDC25B gene for a new syndrome of cardiomyopathy and endocrinopathy.

Conclusions
With the incorporation of CWES in an Undiagnosed Diseases Program, we have ended diagnostic odysseys of patients with rare diseases in Hong Kong in the past 7 years. In this program, we have shown that CWES is an essential tool to end diagnostic odysseys. With the declining cost of next-generation sequencers and reagents, CWES set-ups are now affordable for clinical laboratories. Indeed, owing to the increasing availability of CWES and treatment modalities for rare diseases, precedence can be given to both common and rare medical conditions.
Simon Szántó, Nineteenth Century Viennese Writer and Educator: A Study on Integration, Particularism, and the Ideal of Bildung
Authors: Yanovsky Sara Olga Melinda 
Published: November 2021

Abstract
Simon Szántó is known as one of the founders of the Jewish press in Vienna, the editor and main author of the Jewish periodical Die Neuzeit, and an influential educator during the high point of Austrian liberalism between the 1860s and the early 1880s. His enormously rich literary legacy covers issues such as the integration of Jews into the Austrian-Hungarian society, religious reform, gender roles, and particularly education. Szántó’s writings offer a unique opportunity to look at the Viennese liberal period of the second half of the nineteenth century and its challenges through the eyes of a mostly overlooked, but highly significant and influential actor of the time. This article will first introduce Simon Szántó’s cultural and educational background that impacted his ideals and his activities, and go on to discuss one of his main concerns, namely Jewish education. Religious education, confessional schooling, and Jewish upbringing at home bore the burden of responsibility for shaping Austrian Jewish women and men. These Jews were to be integrated in an Austrian culture, while at the same time taught to retain a strong Jewish particularity. Szántó aimed to unite this dichotomous reality through the realization of his ideals of Jewish Bildung.
Crystal structure of 1-(2-methylphenyl)-2-(2-methylbenzo[b]thienyl)-3,3,4,4,5,5-hexafluorocyclopent-ene, C21H14F6S
Authors: Jiang Duohua 
Published: November 2021

Abstract
C21H14F6S, monclinic, P21/n (no. 14), a = 9.9344(11) Å, b = 16.7106(18) Å, c = 11.6207(13) Å, β = 101.0080(10)°, V = 1893.7(4) Å3, Z = 4, R

gt
(F) = 0.0491, wR

ref
(F
2) = 0.1541, T = 296(2) K.
The Phenomena La Hoguette and Limburg – Technological Aspects
Authors: Kirschneck Erich 
Published: November 2021

AbstractLa Hoguette and Limburg pottery and the role their producers played in the Neolithization of western Central Europe are still a matter of debate. These styles exist in parallel to Linearbandkeramik (LBK) but are different from LBK pottery and here called Non-LBK wares. The various Non-LBK styles are mainly defined based on decoration, but this does not coincide with important technological features. Therefore, an technological approach including the parameters of temper, vessel morphology, and firing methods was used for an alternative classification and to trace knowledge transmission networks. It is suggested that several technologically distinguishable Non-LBK pottery traditions of different geographical origins existed contemporaneously in western Central Europe. While the early mineral- and organic-tempered ware shows some similarities with the Earliest and Early LBK, the widespread early bone-tempered pottery with its uniform design cannot be traced back to either Cardial or LBK pottery. This is probably the oldest pottery in western Central Europe. This means that here pottery emerged first as a tradition outside both the LBK and Cardial cultures. Increasing interaction between producers of various Non-LBK wares and LBK pottery makers can then be traced over several centuries. All styles are shown to be diverse and dynamic and to be undergoing substantial internal development. The persistent mutual influencing is a key for understanding the development of Non-LBK pottery, as well as for innovations within LBK ceramic production. Here, a hypothesis is proposed that the makers of Non-LBK wares may be hunter-gatherers, although this cannot currently be proven.
The Subsistence Strategy of Linear Pottery Culture in Moravia (Czech Republic): Current State of Knowledge
Authors: Čerevková Alžběta 
Published: November 2021

AbstractThe main goal of this article is to present an overview of current knowledge about the subsistence strategy of Linear Pottery culture (LBK) in Moravia, Czech Republic. The main aspect of the subsistence strategy mentioned here will be the issue of dietary. Early Neolithic sites that in some way contributed to the knowledge about the dietary character (both meat and plant food) will be presented here. On this occasion, a case study of the Žádovice site, which belongs to the most recently analyzed settlements, will be presented. In addition, the methods used in the subsistence strategy of LBK in Moravia will be mentioned. The existing knowledge will be included in a broader settlement context and will be compared with each other. For the time being, it seems that in terms of the species spectrum of farmed animals, the area of Moravia does not differ from the situation known from Central Europe. Certain geographical differences are possible in Moravia, but this hypothesis must be verified in the future, depending on the expansion of the database. The study thus represents a springboard for further research in this area.
Danish cult houses in north-western Germany? Rethinking the Funnel Beaker buildings of Flögeln and Hainmühlen, District of Cuxhaven
Authors: Mennenga Moritz 
Published: November 2021

Abstract
Two features recorded in the 1960s and 1980s in the course of excavations at Flögeln and Hainmühlen, both District of Cuxhaven, in the northern Elbe-Weser triangle, have since been repeatedly discussed in connection with cult houses from Denmark. Parts of these sites, finds and features have only been published in rudimentary form and have so far not been subject of comparative analysis. For some aspects, the information has been passed down orally for decades and has eventually found its way into the literature. In order to improve the record, the two features are presented here, followed by a comparison with similar features from the wider area of the Funnel Beaker Culture.
Einfluss COVID-19-bedingter Maßnahmen auf das touristische Buchungsverhalten am Beispiel von Flugpauschalreisen
Authors: Wegener Kerstin , Scheiber Niclas , Wehner Manuel , Holst Christian 
Published: November 2021

Zusammenfassung
Die COVID-19-Pandemie beeinträchtigt den Tourismus weltweit, jedoch zeigen beliebte Urlaubsregionen bei Betrachtung der realen Buchungen für das Jahr 2020 sehr heterogene Abweichungsmuster im Vergleich zum Vorjahr. In diesem Zusammenhang ist unklar, ob und welche Maßnahmen zur Eindämmung der Pandemie das heterogene Buchungsverhalten erklären. Im vorliegenden Artikel werden tourismusrelevante Maßnahmen identifiziert und anhand von Flugpauschalreisebuchungen im deutschen Quellmarkt für Reisen zwischen Mai und Oktober 2020 untersucht. Die Analyse eines umfassenden Primärdatensatzes mittels Fixed-Effects-Modellierung zeigt, dass verschiedene, vom Quellland sowie vom Zielland ausgehende Maßnahmen das Buchungsverhalten in unterschiedlicher Effektstärke signifikant beeinflussen. Darunter fallen insbesondere Reisewarnungen und Quarantäneverordnungen für Rückkehrer.
Reisen in der eigenen Stadt: Stadt(teil)tourismus während der Corona-Pandemie
Authors: Stoltenberg Luise , Stors Natalie , Frisch Thomas 
Published: November 2021

Zusammenfassung
Die COVID-19-Pandemie hat den noch im Jahr 2019 boomenden Stadttourismus stark getroffen, ihn jedoch keinesfalls zum Erliegen gebracht. In unserem Beitrag plädieren wir dafür, die Entwicklungen zwischen März 2020 und September 2021 als (temporäre) Transformation innerhalb des urbanen Tourismus zu verstehen. Um dieses Argument zu untermauern, beleuchten wir die drei Dimensionen unserer Konzeption von New Urban Tourism (Stors et al., 2019) im Kontext der Pandemie: Wir zeigen, dass die (1) Faszination für das Alltägliche, die (2) Begegnungen und Erschließungen neuer Orte des Zusammentreffens sowie die (3) Ko-Produktion des Städtischen auch im Kontext strikter Reiseverbote und veränderter Mobilitäten Bestand haben. Sie werden zwar von anderen Stadtnutzer*innen, Zuschreibungen und Praktiken geprägt, ändern aber nichts daran, dass Tourismus auch während einer Pandemie der Stadt inhärent ist.
Auswirkungen der COVID-19-Pandemie auf die deutschsprachige Tourismushochschullandschaft – aktuelle Einschätzungen und zukünftige Perspektiven
Authors: Hörtnagl-Pozzo Tanja , Klein Anna , Pillmayer Markus , Schmude Jürgen 
Published: November 2021

Zusammenfassung
Die COVID-19-Pandemie betrifft nicht nur viele Segmente der Wirtschaft und dort insbesondere die Freizeit- und Tourismuswirtschaft, sondern auch den Ausbildungssektor, d. h. Schulen, Hochschulen und Universitäten. Insofern ist die akademische Tourismusausbildung doppelt betroffen: einerseits sind Studiengänge in der bisherigen Form nicht mehr durchführbar und erfordern neue Lehrformate und -konzepte seitens der Lehrenden. Andererseits zeigen sich zunehmend Herausforderungen für den akademischen Nachwuchs, Arbeitsplätze nach Abschluss des Studiums und/oder (studiumsbegleitende) Praktikumsplätze in der Freizeit- und Tourismuswirtschaft zu finden. Der vorliegende Projektbericht widmet sich der Perspektive der Lehrenden und analysiert die Auswirkungen der COVID-19-Pandemie auf die deutschsprachige Tourismushochschul- und Universitätslandschaft.
A New Interpretation of the Opening Lines of the Assur Letters
Authors: Waal Willemijn 
Published: November 2021

Abstract
In this paper a new interpretation of the hatura-clauses in the Hieroglyphic Luwian Assur letters will be presented. First of all, it will be argued that the Hieroglyphic Luwian lexeme hatura-, which is usually connected to the Hittite verb ḫatrae- ‘to send’, ‘to write’ and translated as ‘letter’, is in fact related to the Hittite word ḫattuli- and Cuneiform Luwian ḫattulaḫid-, meaning ‘health’,‘wellbeing’. Secondly, the article will suggest that the Hieroglyphic Luwian word api, which is usually translated as ‘back’, or ‘again’, primarily functions as a discourse marker. Lastly, it will be proposed that the Hieroglyphic Luwian word for ‘letter’ or ‘message’ is (*205)atun(i)-. These new interpretations yield a better understanding of the opening lines of the Assur-letters and elucidate some other opaque passages of this intriguing correspondence.1
Lope de Vega según los iniciadores científicos de la historiografía literaria española (1700-1851)
Authors: Cañas Murillo Jesús 
Published: November 2021

En este artículo se investiga sobre la visión que los primeros historiadores científicos de la literatura española transmiten a la historiografía y a la crítica de épocas posteriores a la suya, sobre la figura y la producción escrita de Félix Lope de Vega Carpio, el llamado, desde el momento en que le tocó vivir, «Monstruo de la Naturaleza» y «Fénix de los Ingenios». Se muestran las semejanzas y diferencias existentes en unos y otros, en sus obras dedicadas a trabajar sobre esos asuntos. Se han utilizado treinta y seis volúmenes que sirven como testimonio de las ideas aportadas, las opiniones y juicios críticos manifestados y las noticias recogidas sobre estos asuntos. Con ello hemos querido poner de manifiesto cuáles han sido las aportaciones legadas a la posteridad por los primeros historiadores científicos de la literatura española que publican sus trabajos en la Ilustración y en la primera mitad del siglo XIX.
Palabras clave: Historiografía literaria. Siglos XVIII y XIX españoles. Biografía y producción literaria. Lope de Vega.
AS DIMENSÕES CURRICULARES COMO MOVIMENTO FORMATIVO NO PROGRAMA RESIDÊNCIA PEDAGÓGICA
Authors: Siqueira Radetzke Franciele , Dallagnol Frison Marli 
Published: November 2021

A temática central do presente artigo é a formação de professores em espaço formativo do Programa Residência Pedagógica (PRP) com enfoque na área de Ciências da Natureza e suas Tecnologias. Por meio de pesquisa bibliográfica junto ao BDTD e da Capes buscou-se compreender aspectos que se reportam para as dimensões curriculares presentes nos discursos das pesquisas realizadas. A análise dos dados foi realizada por meio da ATD que oportunizou considerar categorias intermediárias: i) Importância de incorporar ao currículo questões do espaço escolar; ii) Construção de saberes docentes; iii) Necessidade do fortalecimento das relações entre teoria e prática; iv) Reflexão sobre as ações desenvolvidas como viés formativo, bem como categorias finais: ContextualizAção e InterAção. O processo de construção do metatexto interpõe o olhar para as dimensões curriculares como movimento reflexivo no contexto formativo do PRP potencializado pelo diálogo entre diferentes níveis de conhecimento - formação inicial, professores da educação básica e professores formadores. A reflexão é trazida como categoria formativa pela qual se desenvolvem os processos de Investigação-Formação-Ação em Ciências e sinalizam apostas para a formação de professores tanto inicial como continuada.
Li-fi: Current state, progress and forward projection
Authors: Rodríguez David , Leguizamon Paez Miguel Ángel , Tottes Geral 
Published: November 2021

Problem: The increase in wireless devices connected to the internet, saturation of the electromagnetic spectrum used by wireless technologies based on current radio frequencies (Wi-Fi, Bluetooth, ZigBee, among others), new requirements for bandwidth, speeds and energy efficiency for the new generations of telecommunications are the cause of the birth of Li-Fi as an alternative and / or complementary technology of wireless telecommunication that is based on the visible light spectrum.
Objective: The objective of this research is to expose the development of Li-Fi technology in the field of telecommunications, covering it in three main aspects such as the current state of technology, recent advances, and future projections.
Methodology: Different types of bibliographic sources were used, including research and opinion articles, marketing studies, forums, books, conferences, among others with a publication date of 2012 onwards (some exceptions are found in the references); taking as selection criteria title, authors, date of publication, abstract, results and / or conclusions in relation to the research guidelines (Current Status, Advances and Future Projection of Li-Fi technology)
Conclusion: The literature review article manages to highlight the importance of Li-Fi in the new generations of telecommunications of the future and its complementarity with current networks, optimally contextualizing the technology, exposing its advantages and recent advances in technical and commercial aspects as well like its disadvantages and points. weaknesses that should be addressed in the development of this technology in the future
Towards a competitive ST system in the defense sector
Authors: Florez Jimmy 
Published: November 2021

Summary: This article describes a diagnostic investigation called, sustainable military science and technology (ST) in Colombian Air Force (FAC), developed in Aerospace Technological Development Centre (CETAD) between 2019 and 2020, which seeks to identify its weaknesses and strengths to achieve a competitive and sustainable ST system according to the National Security needs that enhances national development and achieve technological sovereignty.
Problem: Is it possible to implement a sustainable and competitive ST system in the defense sector, that enhances the economic and industrial development of the country?
Objective: This research seeks to diagnose the institutional ST system, identifying weaknesses and strengths and proposing strategies to generate a sustainable and competitive ecosystem.
Methodology: A comparison was made between relevant bibliography analysis, the national context, and the result of the diagnoses of the ST system.
Results: ST system is characterized by a efforts dispersion and a disconnection with the mission objectives and its leaders, however, there is a success case that shows how with a pragmatic orientation to the mission, results can be achieved.
Conclusion: It was determined that it is possible to achieve a system that from the sector supports national development, integrating effective marketing and transfer practices and concentrating efforts on the mission.
Originality: Through this research, was possible stablish the ST state of Colombian Air Force in order integrate the system capabilities to the missional process.
Limitations: The lack of information provided by personal that conform the ST and the lack of knowledge of missionary processes.
Evaluation of the binding and disintegrating properties of gum obtained from the stem bark of Cinnamomum zeylanicum
Authors: Sarkodie Louisa C. , Entsie Philomena , Boakye-Gyasi Mariam E. , Owusu Frederick W.A. , Bayor Marcel T. , Ofori-Kwakye Kwabena 
Published: November 2021

Excipients are the various ingredients, apart from the active pharmaceutical ingredients, which are added to pharmaceutical formulations. Excipients obtained from natural sources are preferred over those from synthetic sources because they are cheap, biocompatible and readily available. Gums are made up of carbohydrate units which are linked by glycosidic bonds. This study was aimed at evaluating the potential binding and disintegrating properties of gum obtained from the bark of Cinnamomum zeylanicum, which was obtained from Effiduase in the Ashanti region of Ghana. The gum was extracted using 96% ethanol and the moisture content, Fourier transform infrared spectroscopy spectra, water holding capacity, swelling index and flow properties of the gum were determined. The gum was used to formulate tablets at different concentrations (10% w/v, 15% w/v and 20% w/v) as binder with acacia as the standard. The gum was also used to formulate tablets at different concentrations (5% w/v, 7.5% w/v and 10% w/v) as disintegrant with starch as the standard. Quality control tests were then conducted on all formulated tablets. The gum exhibited good flow and physicochemical properties. All formulated tablets passed the uniformity of weight test, friability test, disintegration test, hardness test, uniformity of dimensions test and drug content. All batches of tablets, except Batch 7, passed the dissolution test. Based on the study carried out, C. zeylanicum gum can be used as an alternative excipient to acacia and starch as a binder and a disintegrant, respectively.

Significance:

A natural polysaccharide (gum) from the bark of Cinnamomum zeylanicum tree can be harnessed and commodified as a pharmaceutical excipient (binder and disintegrant) in the production of immediate release tablets.
Machine learning based on laboratory data for disease prediction
Authors: Gusev A. V. , Novitskiy R. E. , Ivshin A. A. , Alekseev A. A. 
Published: November 2021

Objective: to review domestic and foreign literature on the issue of machine learning methods applied in medical information systems (MIS), to analyze the accuracy and efficiency of the technologies under study, their advantages and disadvantages, the possibilities of implementation in clinical practice.Material and methods. The literature search was performed in the PubMed/MEDLINE databases covering the period from 2000 to 2020 (using groups of keyphrases: "machine learning", "laboratory data", "clinical events", "prediction diseases"), CyberLeninka ("machine learning", "laboratory data", "clinical events", "prediction diseases" Russian keyphrases combinations) and Papers With Code ("clinical events", "prediction diseases", "electronic health record"). After reviewing the full text of 30 literature sources that met the selection criteria, the 19 most relevant articles were selected.Results. An analysis of sources that describe the application of artificial intelligence techniques to obtain predictive analytics, taking into account information about patients, such as demographic, anamnestic, and laboratory data, the data of instrumental studies, information about existing and former diseases available in MIS, was performed. The existing ways of predicting adverse medical outcomes using machine learning methods were considered. Information about the significance of the used laboratory data for constructing high-precision predictive mathematical models is presented.Conclusion. Implementation of machine learning algorithms in MIS seems to be a promising tool for effective prediction of adverse medical events for wide application in real clinical practice. It corresponds to the global trend in the development of personalized medicine based on the calculation of individual risk. There is an increase in the activity of research in the field of predicting noncommunicable diseases using artificial intelligence technologies.
Pengaruh Tuned Mass Damper (TMD) Terhadap Respons Getaran pada Struktur Bangunan
Authors: Suryadi Dedi , Ridlo M. Rasyid , Daratha Novalio , Agustian Indra 
Published: November 2021

Penelitian ini didasari oleh banyaknya kehancuran struktur bangunan yang terjadi akibat gempa bumi, sehingga dibutuhkan suatu sistem peredam yang efektif sebagai solusi untuk struktur bangunan. Penelitian ini menganalisis pengaruh penambahan Tuned Mass Damper (TMD) pada struktur bangunan berlantai satu. Penelitian ini dilakukan pengujian secara eksperimental dengan cara membandingkan respons getaran struktur tanpa TMD dan dengan penambahan TMD. Nilai rasio massa dan kekakuan yang gunakan masing-masing adalah dari 2% sampai 20% dari nilai parameter struktur utama dengan variasi kenaikan 2% untuk setiap langkah. Rasio massa didefinisikan sebagai perbandingan massa struktur dengan massa damper, sedangkan rasio kekakuan adalah perbandingan antara kekakuan struktur dan kekakuan damper. Frekuensi gaya gangguan adalah sebesar 10,5 rad/s, 11 rad/s, dan 11,5 rad/s. Hasil penelitian ini menunjukkan bahwa penambahan TMD pada struktur dengan rasio TMD yang tepat cukup efektif dalam mengurangi respons amplitudo pada struktur. Nilai rasio TMD dengan md 12% dan kd 10% untuk frekuensi gaya gangguan 11,5 rad/s memperlihatkan hasil reduksi amplitudo struktur sebesar 75,19% dibandingkan dengan amplitudo struktur tanpa TMD.