Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.

Given the noticeable and quick progress of digitalization it is well accepted that digital practices are changing business landscapes. However, while this concept is being labelled in the literature it is also often used indistinctively. To avoid misconceptions, we propose to clarify the concept by providing an overview of the existing theory. This research is one of the first attempts to define the "digitalization" term, and to make a distinction between similar ones. The authors have conducted a systematic review of the existing literature, by identifying and synthesizing the existing body of knowledge. While going digital, firms are expecting to enhance their competitive advantage by offering services throughout virtual channels and operationalize its operations management. Furthermore, the literature suggested the development of new digital technologies along with automation and artificial intelligence is enabling a new wave of smart companies, a topic that deserves to be studied in the future.

A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.

Digital competence is among the basic key competences for digital learning and employability. For this reason, its acquisition and development should be on the agenda of higher education institutions (HEIs) who wish to prepare their students to thrive in an ever faster evolving digital labour market. However, the existence of a valid instrument that can help HEIs measuring and further integrating digital competence into pedagogical and organisational practices with sufficient precision is yet to be accomplished. This article provides a valid and reliable instrument to measure higher education students' digital competence on the basis of the European Digital Competence Framework for Citizens, also known as DigComp. The instrument was applied to a sample of 411 students from a mid‐large public HEI and the results attest its validity and reliability. In addition, the study explores proficiency differences among students from different fields of education and training, and gender. Results demystify the idea that ICT students are more digitally competent than those in other fields of study, but suggest males score higher than females, which feeds into the ongoing debate of gender differences in relation to digital technologies and the readiness of females for the digital labour market. The results lead to clear implications for research and practice. What is already known about this topic Digital competence is critical for higher education (HE) students to benefit from digital learning, strive in a digital society and increase employability prospects. There is a lack of valid instruments to measure higher education (HE) students' digital competence and facilitate the identification of digital competence gaps. Few studies focus on the relationship between HE students' digital competence, gender and fields of education and training (FET). What this paper adds A valid and reliable instrument based on a common European framework for digital competence. HE students lack the necessary digital competences to effectively cope with digital environments. Digital proficiency is particularly low regarding “Safety”, “Problem solving” and “Digital content creation” competence areas. ICT students show less proficiency than those from other FET. Male students score higher than females. Implications for practice and/or policy The instrument can be adopted by different stakeholders to assess students/future job seekers' digital competence. HE institutions could benefit from such an instrument as a diagnosis to design specific teaching and learning strategies and target students' proficiency and particular needs. Tackling specific FET and competence areas can better support the development of students' digital competence and facilitate their employability prospects.

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Knowledge and technology transfer practices between universities and industry are aimed to enhance the value of research and development outcomes. They allow researchers and universities to obtain resources and revenues through the establishment of licensing and cooperative research and development agreements. The main objective and contribution of this paper is to provide evidence on what are the main payment types in use by university Technology Transfer Units (TTUs) ensuring a comprehensive overview of the concepts and practices under assessment. This approach also gave us the opportunity to know the earnings distribution among the Portuguese public universities, and to list different dispositions influencing the value of a licensing agreement. Interviews to eight Portuguese university TTUs have been done as a way of perceiving from an insider perspective the issues that this paper wants to emphasize and an extensive literature review has been done, which included the review of the intellectual property regulation of most Portuguese public universities.

Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS.Methods: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC.Results: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiformneurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors.Conclusion: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.

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