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Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in the SEC23A gene. Autosomal recessive inheritance (AR-CLSD) has been extensively documented in several cases with homozygous or compound heterozygous variants in SEC23A, whereas autosomal dominant inheritance (AD-CLSD) involving heterozygous inherited variants has been reported just in three patients. The SEC23A gene encodes for one of the main components of a protein coat complex known as coat-protein-complex II (COPII), responsible for the generation of the envelope of the vesicles exported from the endoplasmic reticulum (ER) toward the Golgi complex (GC). AR-CLSD and AD-CLSD exhibit common features, although each form also presents distinctive and peculiar characteristics. Herein, we describe a rare case of a 10-year-old boy with a history of an anterior fontanel that closed only at the age of 9. The patient presents with short proportionate stature, low weight, and neurological impairment, including intellectual disability, global developmental delay, abnormal coordination, dystonia, and motor tics, along with dysmorphisms such as a wide anterior fontanel, hypertelorism, frontal bossing, broad nose, high-arched palate, and micrognathia. Trio clinical exome was performed, and a de novo heterozygous missense variant in SEC23A (p.Arg716Cys) was identified. This is the first reported case of CLSD caused by a de novo heterozygous missense variant in SEC23A presenting specific neurological manifestations never described before. For the first time, we have conducted a comprehensive phenotype–genotype correlation using data from our patient and the eight most well-documented cases in the literature. Our work has allowed us to identify the main specific and characteristic signs of both forms of CLSD (AR-CLSD, AD CLSD), offering valuable insights that can guide physicians in the diagnostic process. Notably, detailed descriptions of neurological features such as intellectual disability, global developmental delay, and motor impairment have not been documented before. Furthermore, our literature overview is crucial in the current landscape of CLSD due to the absence of guidelines for the clinical diagnosis and proper follow-up of these patients, especially during childhood. [ABSTRACT FROM AUTHOR]

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Copyright of Iskolakultúra is the property of University of Szeged, Faculty of Arts & Social Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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Educational research has increasingly drawn attention to teachers’ professional digital competence.Various theoretical and methodological perspectives involving a plethora of terms are used to investigate teachers’ competences in relation to technology-based teaching. The concept of teachers’ professional digital competence still appears to be ambiguous and elusive. This literature overview aims to scrutinise if, and how the concepts addressing teachers’ professional digital competence are defined or conceptualised in research. In the publications retrieved from the search in educational databases, we found that the concept of teachers’ professional digital competence, or related concepts, was frequently mentioned in abstracts, keywords and full texts, but to a large extent, it was rarely described in detail. In our final corpus of 18 publications, we could distinguish seven recurring aspects of teachers’ professional digital competence; 1) technological competence, 2) content knowledge, 3) attitudes to technology use, 4) pedagogical competence, 5) cultural awareness, 6) critical approach and 7) professional engagement, with the technological and pedagogical competences as the most prominent. Inspired by Bronfenbrenner’s ecological systems theory, these aspects are analysed as operating within microsystems of individual teachers and within meso- and macrosystems of interactive teachers in interplay with the situated classroom contexts and on larger societal systems.

We provide a comprehensive overview of the literature of algorithmic approaches for multiobjective mixed‐integer and integer linear optimization problems. More precisely, we categorize and display exact methods for multiobjective linear problems with integer variables for computing the entire set of nondominated images. Our review lists 108 articles and is intended to serve as a reference for all researchers who are familiar with basic concepts of multiobjective optimization and who have an interest in getting a thorough view on the state‐of‐the‐art in multiobjective mixed‐integer programming. [ABSTRACT FROM AUTHOR]

The goal of this paper is to provide a comprehensive overview of application of multi-criteria decision making (MCDM) methods in papers from the field of ecotourism and sustainable tourism. A search has been done of the relevant terms in titles, abstracts and keywords found in papers from 26 prominent journals from the field of tourism belonging in Web of Science (WoS) Clarivate Analytics. It has been established which MCDM methods were used and who are the most common authors of such papers. A keyword frequency analysis was also performed. It is established there are 39 papers in the field of ecotourism and sustainable tourism where MCDM methods were applied whereby all were published after the year 2000, as well as that their number is constantly increasing.

Purpose To review and integrate the literature on mental-health-related patient-reported outcome measures (PROMs) and routine outcome measures (ROMs), namely in the domains of goals, characteristics, implementation, settings, measurements and barriers. PROM/ROM aims mainly to ascertain treatment impact in routine clinical practice through systematic service users' health assessment using standardized self-report, caretaker and/or provider assessment. Data sources Psych INFO and PubMed including Medline, Biomed Central, EMBASE Psychiatry and Elsevier Science's Direct. Study selection Systemized review of literature (2000–2018) on implementation and sustainability of PROMs/ROMs in adult mental health settings (MHS). Data extraction and synthesis Systemized review of literature (2000–2018) on numerous aspects of PROM/ROM implementation and sustainability in adult MHS worldwide. Results Based on 103 articles, PROMs/ROMs were implemented mostly in outpatient settings for people with assorted mental health disorders receiving a diversity of services. Frequency of assessments and completion rates varied: one-third of projects had provider assessments; about half had both provider and self-assessments. Barriers to implementation: perceptions that PROM/ROM is intrusive to clinical practice, lack of infrastructure, fear that results may be used for cost containment and service eligibility instead of service quality improvement, difficulties with measures, ethical and confidentiality regulations and web security data management regulations. Conclusion Improving data input systems, sufficient training, regular feedback, measures to increase administrative and logistic support to improve implementation, acceptability, feasibility and sustainability, follow-up assessments and client attrition rate reduction efforts are only some measures needed to enhance PROM/ROM efficiency and efficacy. [ABSTRACT FROM AUTHOR]

Purpose To review and integrate the vast amount of literature yielded by recent growing interest in patient-reported outcome measurement and routine outcome measures (PROMs/ROMs), in order to suggest options and improvements for implementation. PROMs are the systematic assessment of service users' health using standardized self-report measures. Specifically, for ROMs, it includes routine provider or caretaker assessment measures. Both are administered to ascertain routinely, the impact of treatment in mental health settings and to improve care. A review is needed because of the large differences in setting, conceptualization, practice and implementation. Here, we examine the different major projects worldwide. Data sources Psych INFO and PubMed including Medline, Biomed Central, EMBASE Psychiatry and Elsevier Science's Direct. Study selection We conducted a systematized review of the literature published from 2000 to 2018 on the implementation and sustainability of PROMs and ROMs in mental health services for adults. Data extraction, synthesis and Results We described and characterized the programs in different countries worldwide. We identified 103 articles that met the inclusion criteria, representing over 80 PROMs/ROMs initiatives in 15 countries. National policy and structure of mental health services were found to be major factors in implementation. We discuss the great variability in PROMs/ROMs models in different countries, making suggestions for their streamlining and improvement. Conclusion We extracted valuable information on the different characteristics of the numerous PROMs/ROMs initiatives worldwide. However, in the absence of a strong nationwide policy effort and support, implementation seems scattered and irregular. Thus, development of the implementation of PROMs/ROMs is left to groups of enthusiastic clinicians and researchers, making sustainability problematic. [ABSTRACT FROM AUTHOR]

In the last decades, local food grabbed the attention of policymakers, advisors, entrepreneurs, and researchers worldwide. Food turned into an emerging topic in relation with tourism and leisure activities, due to its versatility: it offers means for local and regional development, it has potential to strengthen identity and enable the preservation of cultural heritage, traditional skills and products, it is a strong educational and knowledge transmission tool, and it is suitable for destination development. Performing a content analysis of a selected international and Romania related literature, this paper sums up the main topics and angles of research conducted globally on the complex topic of food tourism, but also points out some of the subjects addressed in the Romanian context. The aim of the study is to shed light on the foci of current research regarding food tourism and to see to which extent is the Romanian research in this field up to date. The list and the depicted topics are not necessarily exhaustive, yet they surely integrate the most relevant research themes and actual available results. As main conclusion, we can assert that the rich and manifold surveys reflect the high interest in food tourism, and that this subject is an emergent topic in the Romanian research community.

Dense facial landmark detection is a key element of face processing pipeline. In this paper we survey and analyze modern neural-network-based facial landmark detection algorithms, focus on approaches that have led to a significant increase in quality over the past few years on datasets with large pose and emotion variability, significant face occlusion, all of which are typical in real-world scenarios. We summarize the improvements into categories, provide quality comparison on difficult and modern in-the-wild datasets: 300 Faces in-the-wild (300W), Annotated Facial Landmarks in-the-wild (AFLW), Wider Facial Landmarks in-the-wild (WFLW), Caltech Occluded Faces in-the-wild (COFW). Additionally, we compare algorithm speed on desktop central and graphical processors, mobile devices. For completeness, we also briefly touch on established methods with open implementations available. Besides, we cover applications and vulnerabilities of the landmark detection algorithms. We hope that generalizations that we make will lead to further algorithm improvements.

Copyright of Aula Abierta. Revista de Investigación, Formación e Innovación en Educación (RIFIE) is the property of Universidad de Oviedo, Servicio de Publicaciones and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aim of this paper is to indicate the representation of the papers related to wine and wine (eno) tourism in the scientific journals in the field of tourism from the Journal Citation Reports (JCR) list, with the Impact Factor (IF) - Clarivate Analytics. Fifteen journals have been analyzed on the basis of the phrase presence related to wine and wine tourism in titles, keywords and abstracts. 91 papers have been singled out, with their review per journal, as well as summary of publication frequency per year. The significance of wine and wine tourism in the entire tourism is emphasized through the tendency of their increasing presence in the most relevant scientific journals in the field. This paper creates a foundation for the authors interested in detailed research of the papers published so far, and therefore further development of the scientific and research activities related to wine and wine tourism.

Purpose: To review and integrate the vast amount of literature yielded by recent growing interest in patient-reported outcome measurement and routine outcome measures (PROMs/ROMs), in order to suggest options and improvements for implementation. PROMs are the systematic assessment of service users' health using standardized self-report measures. Specifically, for ROMs, it includes routine provider or caretaker assessment measures. Both are administered to ascertain routinely, the impact of treatment in mental health settings and to improve care. A review is needed because of the large differences in setting, conceptualization, practice and implementation. Here, we examine the different major projects worldwide.Data Sources: Psych INFO and PubMed including Medline, Biomed Central, EMBASE Psychiatry and Elsevier Science's Direct.Study Selection: We conducted a systematized review of the literature published from 2000 to 2018 on the implementation and sustainability of PROMs and ROMs in mental health services for adults.Data Extraction, Synthesis and Results: We described and characterized the programs in different countries worldwide. We identified 103 articles that met the inclusion criteria, representing over 80 PROMs/ROMs initiatives in 15 countries. National policy and structure of mental health services were found to be major factors in implementation. We discuss the great variability in PROMs/ROMs models in different countries, making suggestions for their streamlining and improvement.Conclusion: We extracted valuable information on the different characteristics of the numerous PROMs/ROMs initiatives worldwide. However, in the absence of a strong nationwide policy effort and support, implementation seems scattered and irregular. Thus, development of the implementation of PROMs/ROMs is left to groups of enthusiastic clinicians and researchers, making sustainability problematic. [ABSTRACT FROM AUTHOR]

Purpose: To review and integrate the literature on mental-health-related patient-reported outcome measures (PROMs) and routine outcome measures (ROMs), namely in the domains of goals, characteristics, implementation, settings, measurements and barriers. PROM/ROM aims mainly to ascertain treatment impact in routine clinical practice through systematic service users' health assessment using standardized self-report, caretaker and/or provider assessment.Data Sources: Psych INFO and PubMed including Medline, Biomed Central, EMBASE Psychiatry and Elsevier Science's Direct.Study Selection: Systemized review of literature (2000-2018) on implementation and sustainability of PROMs/ROMs in adult mental health settings (MHS).Data Extraction and Synthesis: Systemized review of literature (2000-2018) on numerous aspects of PROM/ROM implementation and sustainability in adult MHS worldwide.Results: Based on 103 articles, PROMs/ROMs were implemented mostly in outpatient settings for people with assorted mental health disorders receiving a diversity of services. Frequency of assessments and completion rates varied: one-third of projects had provider assessments; about half had both provider and self-assessments. Barriers to implementation: perceptions that PROM/ROM is intrusive to clinical practice, lack of infrastructure, fear that results may be used for cost containment and service eligibility instead of service quality improvement, difficulties with measures, ethical and confidentiality regulations and web security data management regulations.Conclusion: Improving data input systems, sufficient training, regular feedback, measures to increase administrative and logistic support to improve implementation, acceptability, feasibility and sustainability, follow-up assessments and client attrition rate reduction efforts are only some measures needed to enhance PROM/ROM efficiency and efficacy. [ABSTRACT FROM AUTHOR]

Model-Driven Software Engineering (MDSE) is a software development methodology that reduces the cost and production time of the final product by concentratingon a higher level of abstraction. The main focus of MDSE is to generate automated code by applying different types of transformations to high-level models. The effectiveness of MDSE has been proved in different domains for solving various types of problems. This research provides the bibliometric analysis of research in the field of MDSE. The population of the study consists of all MDSE articles indexed in the Web of Science database in ten years from 2010 to 2019. The work aims to identify the volume of scientific production, the most influential countries, universities, authors, and journals, the cooperation network among the countries, universities, and authors, keyword ranking, and Co-word analysis of keywords and titles of the articles. Keyword analysis revealed that Model Transformation and Model Checking are two very important clusters and topics of interest to researchers in this field. The results provide valuable insights that can be used as a guideline by both fresh and experienced researchers for the current state and future trend of MDSE research in different scientific disciplines to establish a baseline beforeinitiating an MDSE research project in the future. [ABSTRACT FROM AUTHOR]

Drug shortages are a multifactorial international concern that are increasingly reported all over the world. A continuously rising number of cases could be observed since 2001 in the United States, but the issue is particularly significant since 2009. In Hungary, the same increasing tendency was observed; while in 2012 464 shortages occurred, in 2020 1466 cases were reported. According to the US Food and Drug Administration, there are three root causes behind the shortages. This paper aims at conducting a comprehensive overview of literature, exploring these principal causes and additional factors deriving from them in detail and thereby explaining how each of these contributes to shortages. Furthermore, it will illustrate how the lack of sufficient information due to an imperfect warning system also exacerbates the issue. As the problem affects every stakeholder in the supply chain from patients to Marketing Authorisation Holders, each party should be involved in the development and implementation of mitigating strategies that can provide the basis of policy measures. The article highlights how international trends both in terms of affected therapeutic areas and causes of shortages are reflected in the Hungarian markets; therefore, similar approaches could be adapted to tackle the issue domestically and deliver enduring solutions. [ABSTRACT FROM AUTHOR]

This article presents a cross-sectional examination of El Sistema, a social music education method, its educational background, philosophy, history and contemporary practices based on a systematic literature review. First, we describe the background and key principles of the El Sistema method, and then examine each of the identified studies and present a synthesis of their results. The El Sistema method has spread widely around the world and a range of modelling approaches and educational programmes have been inspired by its ideas. Research and constructive critique are needed to help ensure high-quality dissemination and application of the method. This article addresses the following research questions: 1) What music educational starting points does the international El Sistema social music education method include? 2) What has been researched about El Sistema? 3) What are the main results of the research conducted on El Sistema? The method used in this article is systematic literature overview. Using three search words, the database of the University of Eastern Finland found 223 hits from which 37 were selected to be analysed. In addition, searches were carried out in the following databases: UEF Primo Central Index, Social Science Premium Collection (Pro Quest), Uniarts Finna Arsca, and the Education Resources Information Center (ERIC), and nine more hits were found (N=46). The publications were classified into five groups: 1) history of El Sistema, 2) brain research, 3) academic impacts, 4) psychosocial impacts, and 5) El Sistema programme activities. The weighting of the studies was evaluated based on the content in relation to the subject under study, the scientific level, Publication Forum JUFO classification, and date of publication. Synthesis: Historically, the birth of El Sistema in Caracas in 1975 was preceded by a versatile positive cause-consequence relationship. It is beneficial for the brain to engage in music more than is typically offered in schools. In addition, psychosocial abilities are improved through participation in an orchestra or a choir. El Sistema and its ways of operating always differ depending on the local culture and needs of different countries and communities. Music education needs to be more than merely practising compositions for performance in an orchestra or a choir. Music itself does not do anything life-changing - the people involved in it do. [ABSTRACT FROM AUTHOR]

Micro-computed tomography (micro-CT) is a consolidated imaging technology allowing non-destructive three-dimensional (3D) qualitative and quantitative analysis by the observation of microstructures with high resolution. This paper aims at delivering a structured overview of literature about studies performed using micro-CT in dentistry and maxillofacial surgery (MFS) by analyzing the entire set of articles to portray the state of the art of the last ten years of scientific publications on the topic. It draws the scenario focusing on biomaterials, in vitro and in/ex vivo applications, bone structure analysis, and tissue engineering. It confirms the relevance of the micro-CT analysis for traditional research applications and mainly in dentistry with respect to MFS. Possible developments are discussed in relation to the use of the micro-CT combined with other, traditional, and not, techniques and technologies, as the elaboration of 3D models based on micro-CT images and emerging numerical methods. Micro-CT results contribute effectively with whose ones obtained from other techniques in an integrated multimethod approach and for multidisciplinary studies, opening new possibilities and potential opportunities for the next decades of developments. [ABSTRACT FROM AUTHOR]

The article offers an overview of book-length scholarly studies in the life and work of E.M.Forster published after the year 2000. Approximately 50 books have been considered; they are mostly books of which Forster, his life, and works are the primary subjects. The books are briefly presented and commented upon. They have been divided here into four sections — Forster’s own writings, memoirs and biographies, monograph studies, and edited collected volumes. The article is supplemented by complete bibliographic information concerning all the discussed books.

Abstract Background Here we present an overview of the literature on autism in adult and juvenile delinquents. We analyzed both the prevalence of autism spectrum disorders (ASD) in groups of delinquents and the prevalence of offending in people with ASD. There is a high prevalence of psychiatric disorders amongst people in custody, but there is disagreement about the prevalence of ASD in this population. Some studies have found overrepresentation of people with ASD in forensic populations whereas others have found that people with ASD have a similar rate of offending to the general population. Methods We carried out a systematic search of literature published between 1990 and 2016 and identified studies on the co-occurrence of autism and delinquency using standard search engines. Results The prevalence of delinquency in the ASD population varied from 5 to 26%, whilst ASD was found in 2–18% of the forensic populations studied. The reported prevalence of ASD in delinquents and of offending in people with ASD varied widely. This might be due to the use of different diagnostic instruments, the diversity of the samples, the high rate of comorbid psychiatric disorders and the various types of offending behavior. Conclusions We cannot conclude from our analysis that people with ASD are more likely to offend than the general population.

The aim of this paper is to indicate the representation of the papers related to wine and wine (eno) tourism in the scientific journals in the field of tourism from the Journal Citation Reports (JCR) list, with the Impact Factor (IF) – Clarivate Analytics. Fifteen journals have been analyzed on the basis of the phrase presence related to wine and wine tourism in titles, keywords and abstracts. 91 papers have been singled out, with their review per journal, as well as summary of publication frequency per year. The significance of wine and wine tourism in the entire tourism is emphasized through the tendency of their increasing presence in the most relevant scientific journals in the field. This paper creates a foundation for the authors interested in detailed research of the papers published so far, and therefore further development of the scientific and research activities related to wine and wine tourism.

Literature is a hugely loaded term that brings within its ambit a variety of concerns ranging from philosophy to journalism as there is almost a photo finish between what is construed as journalism and what is commonly and widely presumed literature. Adding interactive or writing multi-platform stories/literature/fiction is quickly becoming a new craft of publishing onto itself and a tool for writers to use. The media field could be very different in coming years---or it could still be just a bunch of promotional tietins. The dimensions of literature breach boundaries to conform to the possibilities of generating discourses on issues of humanitarian concerns. Hemingway, Dos Passos, Dickens and Thackeray came to the writing of fiction through journalism. Psychology and Philosophy have given the edges to literature as the likes of James Joyce, Joseph Conrad and Virginia Woolf. Journalism aided the growth of imperial culture and simultaneously provoking a debate between the East and West, between the Fascist and the Liberals and between the Diary of A young Girl and Tin Drum and again between what Bertolt Brecht did in Germany to stave off the last remains of Nazism though diced up in ruins. The difference lies in the manner of treating its shades and colors. [ABSTRACT FROM AUTHOR]

Micro-computed tomography (micro-CT) is a consolidated imaging technology allowing non-destructive three-dimensional (3D) qualitative and quantitative analysis by the observation of microstructures with high resolution. This paper aims at delivering a structured overview of literature about studies performed using micro-CT in dentistry and maxillofacial surgery (MFS) by analyzing the entire set of articles to portray the state of the art of the last ten years of scientific publications on the topic. It draws the scenario focusing on biomaterials, in vitro and in/ex vivo applications, bone structure analysis, and tissue engineering. It confirms the relevance of the micro-CT analysis for traditional research applications and mainly in dentistry with respect to MFS. Possible developments are discussed in relation to the use of the micro-CT combined with other, traditional, and not, techniques and technologies, as the elaboration of 3D models based on micro-CT images and emerging numerical methods. Micro-CT results contribute effectively with whose ones obtained from other techniques in an integrated multimethod approach and for multidisciplinary studies, opening new possibilities and potential opportunities for the next decades of developments.