Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder.

TANGO2-deficiency disorder (TDD) is an autosomal-recessive genetic disease caused by biallelic loss-of-function variants in the TANGO2 gene. TDD-associated cardiac arrhythmias are recalcitrant to standard antiarrhythmic medications and constitute the leading cause of death. Disease modeling for TDD has been primarily carried out using human dermal fibroblast and, more recently, in Drosophila by multiple research groups.

Carbon footprint and employment generation produced by ICT networks for Internet deployment: A multi-regional input-output analysis.

Internet is widely regarded as a necessary resource for economic and social development. The availability of this technology requires the deployment of ICT networks which have implications not only on the natural surroundings but also on the human environment. Understanding the impact generated on key areas of socio-ecological concern such as carbon footprint and employment generation is essential to ensure well-informed decision-making.

HeNeCOn: An ontology for integrative research in Head and Neck cancer.

Background: Head and Neck Cancer (HNC) has a high incidence and prevalence in the worldwide population. The broad terminology associated with these diseases and their multimodality treatments generates large amounts of heterogeneous clinical data, which motivates the construction of a high-quality harmonization model to standardize this multi-source clinical data in terms of format and semantics. The use of ontologies and semantic techniques is a well-known approach to face this challenge.

Innovation through the Quintuple Helix in living labs: lessons learned for a transformation from lab to ecosystem.

Introduction: In the process of growing societies, and especially in the digital era we live in, there is a need for a strong push for innovation that puts citizens at the center of the process from the beginning to build more resilient, cooperative and flexible communities. Different collaborative design approaches have emerged in recent decades, one of the most interesting being Living Labs, which involves user-centered design and co-creative innovation that bring together different actors and roles. However, although these new methodologies are harnessing creativity, some aspects of this new, more ecosystemic and complex vision are not clearly understood: possible barriers, how to facilitate local and operational solutions, overcoming institutional blockage, integrating new roles, etc.

GATEKEEPER's Strategy for the Multinational Large-Scale Piloting of an eHealth Platform: Tutorial on How to Identify Relevant Settings and Use Cases.

Background: The World Health Organization's strategy toward healthy aging fosters person-centered integrated care sustained by eHealth systems. However, there is a need for standardized frameworks or platforms accommodating and interconnecting multiple of these systems while ensuring secure, relevant, fair, trust-based data sharing and use. The H2020 project GATEKEEPER aims to implement and test an open-source, European, standard-based, interoperable, and secure framework serving broad populations of aging citizens with heterogeneous health needs.

Feasibility study of a clinical decision support system for polymedicated patients in primary care.

Age-related changes in pharmacokinetics and pharmacodynamics, multimorbidity, frailty, and cognitive impairment represent challenges for drug treatments. Moreover, older adults are commonly exposed to polypharmacy, leading to increased risk of drug interactions and related adverse events, and higher costs for the healthcare systems. Thus, the complex task of prescribing medications to older polymedicated patients encourages the use of Clinical Decision Support Systems (CDSS).

Promoting Obesity Prevention and Healthy Habits in Childhood: The OCARIoT Experience.

Objective: Long term behavioural disturbances and interventions in healthy habits (mainly eating and physical activity) are the primary cause of childhood obesity. Current approaches for obesity prevention based on health information extraction lack the integration of multi-modal datasets and the provision of a dedicated Decision Support System (DSS) for health behaviour assessment and coaching of children.

Methods: Continuous co-creation process has been applied in the frame of the Design Thinking Methodology, involving children, educators and healthcare professional in the whole process.

Psychosomatic response to acute emotional stress in healthy students.

The multidimensionality of the stress response has shown the complexity of this phenomenon and therefore the impossibility of finding a unique biomarker among the physiological variables related to stress. An experimental study was designed and performed to guarantee the correct synchronous and concurrent measure of psychometric tests, biochemical variables and physiological features related to acute emotional stress. The population studied corresponds to a group of 120 university students between 20 and 30 years of age, with healthy habits and without a diagnosis of chronic or psychiatric illnesses.

Increasing diversity in developmental cognitive neuroscience: A roadmap for increasing representation in pediatric neuroimaging research.

Understanding of human brain development has advanced rapidly as the field of developmental cognitive neuroscience (DCN) has matured into an established scientific discipline. Despite substantial progress, DCN lags behind other related disciplines in terms of diverse representation, standardized reporting requirements for socio-demographic characteristics of participants in pediatric neuroimaging studies, and use of intentional sampling strategies to more accurately represent the socio-demographic, ethnic, and racial composition of the populations from which participants are sampled. Additional efforts are needed to shift DCN towards a more inclusive field that facilitates the study of individual differences across a variety of cultural and contextual experiences.

Analysing associations between digitalization and the accomplishment of the Sustainable Development Goals.

Sustainability is a very complex concept made up of a multitude of interacting aspects that do not necessarily work synergistically with each other. The consequential outcome of cross-cutting drivers, such as digitalisation, is often difficult to assess, as the achievement of certain targets may also inadvertently hinder progress towards others. This investigation describes a comprehensive and systematic country-based analysis of statistical associations between digitalization and sustainability indicators operating at three different levels (i.

Person-specific connectivity mapping uncovers differences of bilingual language experience on brain bases of attention in children.

Bilingualism influences children's cognition, yet bilinguals vary greatly in their dual-language experiences. To uncover sources of variation in bilingual and monolingual brain function, the present study used standard analysis and innovative person-specific connectivity models combined with a data-driven grouping algorithm. Children (ages 7-9; N = 52) completed a visuo-spatial attention task while undergoing functional near-infrared spectroscopy neuroimaging.

Attentional orienting abilities in bilinguals: Evidence from a large infant sample.

A key question in studies of cognitive development is whether bilingual environments impact higher-cognitive functions. Inconclusive evidence in search of a "bilingual cognitive advantage" has sparked debates on the reliability of these findings. Few studies with infants have examined this question, but most of them include small samples.

Definition of a framework for the creation of a Living Labs network: the case of the European Living Labs and Test Beds Network focused on health care domain.

This paper describes the framework for the creation of a Living Labs network based on the experience of the setting up, growth and further consolidation of the European Living Labs and Test Beds Network focused on Health. The manuscript presents how to create an open innovation ecosystem through a network of Living Labs and Test Beds, introducing its value proposition and current status.

Data analytics for predicting quality of life changes in head and neck cancer survivors: a scoping review.

Head and neck cancer is the seventh most common cancer worldwide. The incidence of this cancer is increasing, but at the same time, the cancer-related mortality rate has decreased over time, leaving more head and neck cancer survivors. More emphasis is needed on quality-of-life research in the head and neck cancer field to improve their daily lives and reduce the disease and treatment response burden.

Definition and development of a digital system for the empowerment and activation of type 1 diabetic patient.

Health education is essential for type 1 diabetic patients to actively participate in the decision-making process about their disease. Under the framework of the INCAP project, a mobile application has been designed and developed with an easy-to-use interface for type 1 diabetic patients to improve their empowerment, activation and thus their self-control and improvement of their treatment adherence.

Culturally relevant stressors as moderators of intergenerational transmission of mother-adolescent executive function in Mexican immigrant families.

The intergenerational transmission of executive function may be enhanced or interrupted by culturally salient environmental stressors that shape the practice of executive function in the family. Building upon past research, the current study tests whether culturally relevant stressors such as economic stress and foreigner stress have a direct effect on adolescent executive function, as well as whether they modify the intergenerational transmission of mother-child executive function (i.e.

Bilingualism alters infants' cortical organization for attentional orienting mechanisms.

A bilingual environment is associated with changes in the brain's structure and function. Some suggest that bilingualism also improves higher-cognitive functions in infants as young as 6-months, yet whether this effect is associated with changes in the infant brain remains unknown. In the present study, we measured brain activity using functional near-infrared spectroscopy in monolingual- and bilingual-raised 6- and 10-month-old infants.

Shining a light on cultural neuroscience: Recommendations on the use of fNIRS to study how sociocultural contexts shape the brain.

Functional near-infrared spectroscopy (fNIRS) is a portable neuroimaging technique that may serve as a methodological tool for studying how sociocultural contexts can shape the human brain and impact cognition and behavior. The use of fNIRS in community-based research may (a) advance theoretical knowledge in psychology and neuroscience, particularly regarding underrepresented ethnic-racial communities; (b) increase diversity in samples; and (c) provide neurobiological evidence of sociocultural factors supporting human development. The review aims to introduce the use of fNIRS, including its practicalities and limitations, to new adopters inquiring how sociocultural inputs affect the brain.

The Simon effect in bilingual language brokers: A role for emotion and proficiency.

Aims And Objectives/purpose/research Questions: Language brokering (LB) is an informal translation experience where bilinguals serve as linguistic and cultural intermediaries for family members. LB may have long-term socio-emotional and cognitive outcomes, yet little is known about its effects on executive functions (EFs). This study examines how first language (L1) proficiency and negative emotions tied to language brokering experiences affect EF performance on a Simon task (ST).

The Role of Audiovisual Speech in Fast-Mapping and Novel Word Retention in Monolingual and Bilingual 24-Month-Olds.

Three experiments examined the role of audiovisual speech on 24-month-old monolingual and bilinguals' performance in a fast-mapping task. In all three experiments, toddlers were exposed to familiar trials which tested their knowledge of known word-referent pairs, disambiguation trials in which novel word-referent pairs were indirectly learned, and retention trials which probed their recognition of the newly-learned word-referent pairs. In Experiment 1 ( = 48), lip movements were present during familiar and disambiguation trials, but not retention trials.

Design of a Training Model for Remote Management of Patients Hospitalized at Home.

Purpose: Hospitalization at Home (HaH) has proven to be more efficient and effective than conventional one, but it also requires a higher number of resources and specialised personnel. Information technologies can make this process scalable and allow physicians and nurses to deliver remote healthcare services for patients hospitalized at home. However, a correct and satisfactory usage of technology requires an adequate training of professionals and patients.

Comparison of motion correction techniques applied to functional near-infrared spectroscopy data from children (Erratum).

The erratum concerns amendment of Section 2.5 of the published article.