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Telemedicine is the use of electronic communication technology to facilitate healthcare between distant providers and patients. In addition to synchronous video conferencing, asynchronous video transfer has been used to support care for neurology patients.There is a growing literature on using telemedicine in movement disorders, with the most common focus on Parkinson’s disease. There is accumulating evidence for videoconferencing to diagnose and treat patients with hyperkinetic movement disorders and to support providers in remote underserviced areas. Cognitive testing has been shown to be feasible remotely. Genetic counseling and other counseling-based therapeutic interventions have also successfully performed in hyperkinetic movement disorders.We use a problem-based approach to review the current evidence for the use of telemedicine in various hyperkinetic movement disorders. This Viewpoint attempts to identify possible telemedicine solutions as well as discussing unmet needs and future directions.

BackgroundApproximately 40-70% of people with Parkinson's disease (PD) fall each year, causing decreased activity levels and quality of life. Current fall-prevention strategies include the use of pharmacological and non-pharmacological therapies. To increase the accessibility of this vulnerable population, we developed a multidisciplinary telemedicine program using an Information and Communication Technology (ICT) platform. We hypothesized that the risk for falling in PD would decrease among participants receiving a multidisciplinary telemedicine intervention program added to standard office-based neurological care.ObjectiveTo determine the feasibility and cost-effectiveness of a multidisciplinary telemedicine intervention to decrease the incidence of falls in patients with PD.MethodsOngoing, longitudinal, randomized, single-blinded, case-control, clinical trial. We will include 76 non-demented patients with idiopathic PD with a high risk of falling and limited access to multidisciplinary care. The intervention group (n = 38) will receive multidisciplinary remote care in addition to standard medical care, and the control group (n = 38) standard medical care only. Nutrition, sarcopenia and frailty status, motor, non-motor symptoms, health-related quality of life, caregiver burden, falls, balance and gait disturbances, direct and non-medical costs will be assessed using validated rating scales.ResultsThis study will provide a cost-effectiveness assessment of multidisciplinary telemedicine intervention for fall reduction in PD, in addition to standard neurological medical care.ConclusionIn this challenging initiative, we will determine whether a multidisciplinary telemedicine intervention program can reduce falls, as an alternative intervention option for PD patients with restricted access to multidisciplinary care.Trial registrationClinicalTrials.gov Identifier: NCT04694443.

Introduction Neuroplasticity is defined as the capacity of the brain to reorganise new neuronal pathways. Mirror therapy (MT) and cognitive therapeutic exercise (CTE) are two neurorehabilitation techniques based on neuroplasticity and designed to improve the motor functions of the affected upper extremity in patients with severe hemiparesis after a stroke. Home-based interventions are an appropriate alternative to promote independence and autonomy. The objective of this study is to evaluate which of these techniques, MT and CTE, combined with task-oriented training, is more effective in functional recovery and movement patterns of the upper extremities in patients with severe hemiparesis after a stroke.Methods and analysis This is a home-based, single-blind, controlled, randomised clinical trial with three parallel arms, including 154 patients who had a stroke aged above 18 years. The primary outcome will be the functionality of the affected upper extremity measured using the Fugl-Meyer Assessment. Secondary variables will include cognitive performance, emotional state, quality of life and activities of daily living. During 6 weeks, one of the intervention groups will receive a treatment based on MT and the other one on CTE, both combined with task-oriented training. No additional interventions will be provided to the control group. To assess the progress of patients who had a stroke in the subacute phase, all variables will be evaluated at different visits: initial (just before starting treatment and 4 weeks post-stroke), post-intervention (6 weeks after initial) and follow-up (6 months).Ethics and dissemination This protocol has been approved by the Institutional Review Board (CEIm-2.134/2.019) and registered at ClinicalTrials.gov (NCT04163666). The results will be disseminated through open-access peer-reviewed journals, conference presentation, broadcast media and a presentation to stakeholders. These study results will provide relevant and novel information on effective neurorehabilitation strategies and improve the quality of intervention programmes aimed at patients after a stroke.Trial registration number ClinicalTrials.gov (NCT04163666).

Antecedentes: Numerosos textos y artículos relacionan distintos aspectos psicológicos con el emprendimiento, por ejemplo podemos hablar de autoeficacia, locus de control, expectativas, propensión al riesgo. Objetivos: El objetivo de este trabajo consiste en comprender cómo distintos procesos psicológicos influyen en el fomento del espíritu emprendedor en población joven. Método: Para ello hemos llevado a cabo una revisión bibliográfica analizando distintos trabajos y estudios científicos que abordan esta temática desde el año 2008 hasta la actualidad. Resultados y Conclusiones: Tras el análisis realizado observamos que distintos aspectos psicológicos se asocian de manera positiva con las habilidades emprendedoras, reflejando la importancia de que en las prácticas educativas se incluyan estos factores.

During the last years the INFAD Association in collaboration with the Association Union for Innovation G21 has been focusing part of its efforts on the enhancement of Ergonomics as a scientific discipline, and in a very specific way those applications that touch closely the field of disability offering strategies that generate elements of social inclusion and useful tools to build accessible environments that will contribute to the integral development of the person with disability. In this context we present the results of the work on identification of needs, attitudes and challenges of the different agents involved in the Ergonomics approach. The objectives of this analysis are to inform the current situation of the companies regarding the real level of implementation of Accessible and Universal Designs, as well as the identification of attitudes and challenges, always considering the main parties involved in this process. The on-line questionnaire was the basic instrument used for the investigation. To this end, the main variables on which information was needed were generated, generating specific questions capable of eliciting reliable, valid and susceptible responses to be quantified. The survey was distributed through the main social networks that operate with INFAD, prioritizing business, university and educational contexts. A total of 100 people participated, whose profile corresponds to the main actors that interact in the process of implementing ergonomic designs in educational and business contexts: employers, employers, managers, business managers, workers and workers with some type of disability.

The Ergonomics as a discipline tries to carry out a series of principles that allow to develop the activities of daily life, in the least burdensome way for people with chronic affections. Being able to participate in their life in a more normalized way leads users to enjoy an improvement in their quality of life. We start from the idea of a model in which it is proposed that the conservation of one's energy is useful for people suffering from a chronic disease or for anyone who wants to perform more with less effort. A pilot study has been carried out, implementing a physical exercise program in a public residence, performing an initial and final functional assessment. The most frequent pathologies, susceptible to intervention from this model are: rizarthrosis, osteoarthritis, rheumatoid arthritis, multiple sclerosis, chronic fatigue. The model proposes a series of principles such as: taking frequent breaks; prioritize activities; advance planning; establish a slower and more constant rhythm for heavy activities; use the space efficiently; adopt correct postures; use an adapted equipment and do moderate continuous exercise. The results indicate improvements in general, and significant in the physical activity questionnaire; The principles applied are very useful for people without pathology, and very appropriate for people over 65 years.

Abstract Background Substantial discoveries during the past century have revealed that transposable elements (TEs) can play a crucial role in genome evolution by affecting gene expression and inducing genetic rearrangements, among other molecular and structural effects. Yet, our knowledge on the role of TEs in adaptation to extreme climates is still at its infancy. The availability of long-read sequencing has opened up the possibility to identify and study potential functional effects of TEs with higher precision. In this work, we used Drosophila montana as a model for cold-adapted organisms to study the association between TEs and adaptation to harsh climates. Results Using the PacBio long-read sequencing technique, we de novo identified and manually curated TE sequences in five Drosophila montana genomes from eco-geographically distinct populations. We identified 489 new TE consensus sequences which represented 92% of the total TE consensus in D. montana. Overall, 11–13% of the D. montana genome is occupied by TEs, which as expected are non-randomly distributed across the genome. We identified five potentially active TE families, most of them from the retrotransposon class of TEs. Additionally, we found TEs present in the five analyzed genomes that were located nearby previously identified cold tolerant genes. Some of these TEs contain promoter elements and transcription binding sites. Finally, we detected TEs nearby fixed and polymorphic inversion breakpoints. Conclusions Our research revealed a significant number of newly identified TE consensus sequences in the genome of D. montana, suggesting that non-model species should be studied to get a comprehensive view of the TE repertoire in Drosophila species and beyond. Genome annotations with the new D. montana library allowed us to identify TEs located nearby cold tolerant genes, and present at high population frequencies, that contain regulatory regions and are thus good candidates to play a role in D. montana cold stress response. Finally, our annotations also allow us to identify for the first time TEs present in the breakpoints of three D. montana inversions.

Abstract A genomic database of all Earth’s eukaryotic species could contribute to many scientific discoveries; however, only a tiny fraction of species have genomic information available. In 2018, scientists across the world united under the Earth BioGenome Project (EBP), aiming to produce a database of high-quality reference genomes containing all ~1.5 million recognized eukaryotic species. As the European node of the EBP, the European Reference Genome Atlas (ERGA) sought to implement a new decentralised, equitable and inclusive model for producing reference genomes. For this, ERGA launched a Pilot Project establishing the first distributed reference genome production infrastructure and testing it on 98 eukaryotic species from 33 European countries. Here we outline the infrastructure and explore its effectiveness for scaling high-quality reference genome production, whilst considering equity and inclusion. The outcomes and lessons learned provide a solid foundation for ERGA while offering key learnings to other transnational, national genomic resource projects and the EBP.

Background: Burns are a common and severe medical emergency requiring immediate specialized care to minimize damage and prevent complications. Burn severity depends on depth, extent, and location, with more complex care needed for burns on critical areas or extensive burns. Nursing is essential in burn management, providing immediate care, adapting treatments, managing pain, preventing infections, and offering emotional support for recovery. The study aims to analyse the epidemiological and clinical characteristics of burns treated at the Hospital Emergency Department of the Hospital Complex of Cáceres (Spain) from January 2018 to December 2022. It looks at factors like gender, age, hospital stay duration, emergency type (paediatric or adult), main diagnosis, skin thickness, burn degree, affected body areas, percentage of body surface area burned, and treatment types. It also investigates how treatment varies by gender, age, skin thickness, and burn severity. The relevance of this research lies in the fact that periodic epidemiological studies are essential to monitor changes in diseases, evaluate the effectiveness of interventions, detect outbreaks quickly, update knowledge on risk factors, and guide health policy decisions. This ensures an adapted and effective response to the needs of the population. Methods: Retrospective, observational study that analysed burn cases treated at the Hospital Complex of Cáceres (Spain) 2018–2022. Inclusion criteria were based on ICD-10 codes for burns, excluding severe cases not treated in this service. Data were analysed using descriptive statistics, Student’s t-tests, Chi-square tests, and ANOVA. Results: 220 patients surveyed, with a mean age of 47 years and 60.9% male. Most burns (95.5%) affected the external body surface, with a mean hospital stay of 7.86 days. Medical treatment was provided to 75.5% of patients, and 24.5% required surgical intervention. Significant differences in treatment procedures were observed according to age, skin thickness, and burn degree. Older patients had more procedures and longer hospital stays. Excision and transfer procedures were more common in full-thickness and severe burns. Conclusions: The findings align with previous research on burn demographics and treatment approaches. Treatment differences by age and burn severity highlight the need for tailored interventions. The study underscores the importance of comprehensive burn management, including psychological support for improved long-term outcomes. Further research could explore the impact of socio-economic factors on burn incidence and treatment. This study was not registered.

Abstract The epigenome is the suite of interacting chemical marks and molecules that helps to shape patterns of development, phenotypic plasticity and gene regulation, in part due to its responsiveness to environmental stimuli. There is increasing interest in understanding the functional and evolutionary importance of this sensitivity under ecologically realistic conditions. Observations that epigenetic variation abounds in natural populations have prompted speculation that it may facilitate evolutionary responses to rapid environmental perturbations, such as those occurring under climate change. A frequent point of contention is whether epigenetic variants reflect genetic variation or are independent of it. The genome and epigenome often appear tightly linked and interdependent. While many epigenetic changes are genetically determined, the converse is also true, with DNA sequence changes influenced by the presence of epigenetic marks. Understanding how the epigenome, genome and environment interact with one another is therefore an essential step in explaining the broader evolutionary consequences of epigenomic variation. Drawing on results from experimental and comparative studies carried out in diverse plant and animal species, we synthesize our current understanding of how these factors interact to shape phenotypic variation in natural populations, with a focus on identifying similarities and differences between taxonomic groups. We describe the main components of the epigenome and how they vary within and between taxa. We review how variation in the epigenome interacts with genetic features and environmental determinants, with a focus on the role of transposable elements (TEs) in integrating the epigenome, genome and environment. And we look at recent studies investigating the functional and evolutionary consequences of these interactions. Although epigenetic differentiation in nature is likely often a result of drift or selection on stochastic epimutations, there is growing evidence that a significant fraction of it can be stably inherited and could therefore contribute to evolution independently of genetic change.

Abstract A prominent feature of COVID-19, both in the short and long term, is the reduction in quality of life (QoL) due to low functionality scores and the presence of fatigue, which can hinder daily activities. The main objective of this study is to compare the functional status, level of physical activity, fatigue, and QoL of patients with Long COVID to other COVID-19 patients who did not develop persistent illness, and to determine whether there is a relationship between these variables and QoL. A cross-sectional study was conducted with 170 participants who had been infected with COVID-19 or had developed Long COVID. The main variables studied were functionality, physical activity, QoL and fatigue, measured using the PostCOVID-19 Functional Status Scale (PCFS), International Physical Activity Questionnaire (IPAQ), Short Form 12 (SF-12), and Fatigue Severity Scale (FSS). The main findings show a significant relationship (p

Background: In order to be used safely, accurately and reliably, measuring instruments in the health field must first be validated, for which the study of their psychometric properties is necessary. The Short Physical Performance Battery (SPPB) tool is a widely used clinical assessment test that has been approved for usage across several nations, languages and demographics. Finding SPPB’s psychometric properties for a sample of institutionalized older individuals is the aim of this research. Methods: This is a multicenter, retrospective and observational study of the psychometric properties of the Short Physical Performance Battery tool with a convenience sample of 194 institutionalized older adults. Reliability (internal consistency) and validity (construct validity and convergent validity) tests were performed. Results: The results show a very good internal consistency, construct validity and convergent validity. In addition, the factorial structure of the SPPB is provided, which reflects that it is a unidimensional scale. Conclusions: In conclusion, the Short Physical Performance Battery is a valid and reliable tool for use with institutionalized older adults. Its use is recommended as part of the Comprehensive Geriatric Assessment for the evaluation of the physical or functional sphere. This study was not registered.

Cyberbullying is a growing problem in the Italian educational sector, with a prevalence of 17%. This study analyzes its impact on the psychosocial well-being and academic performance of Italian adolescents. Method: A cross-sectional study was conducted with 502 students from six schools in different Italian regions, using the European Cyberbullying Intervention Project Questionnaire (ECIPQ) to assess cyberbullying, in addition to collecting data on satisfaction, friends, and academic performance. Chi-square and ANOVA analyses were conducted to identify significant associations between the variables. Results: The analyses showed significant associations between cyberbullying and gender and in psychosocial well-being, with significant differences in personal satisfaction and body satisfaction. On the other hand, there were no significant differences in academic performance or in the ability to make new friends, although victims showed a significantly lower ability to make new friends compared to those who were neither victims nor aggressors. Conclusions: Cyberbullying has a significant impact on students’ psychosocial well-being, especially on personal satisfaction and school happiness, making it essential to implement interventions that promote safe school environments to mitigate these negative effects.

This study evaluates teacher self-efficacy perceptions among students in the Master’s Degree in Secondary Education and Baccalaureate, Vocational Training, and Language Teaching (MDSE), as well as the variables influencing these perceptions and their connection to the program’s training. The research sheds light on how self-efficacy affects views on concerns, feelings, and attitudes towards diversity and inclusive education in the current educational landscape. Out of 205 female and 100 male MDSE students surveyed, who are either graduates or nearing completion, data were gathered using the “Teacher Education in Secondary Education: Key Elements for Teaching in an Inclusive School for All” (FORPES-IN) questionnaire distributed across Spanish universities. Three primary instruments from the questionnaire were utilized: the Teachers’ Self-Efficacy Short Form (TSES-SF), the Questionnaire for Future Secondary Education Teachers regarding Perceptions of Diversity, and the Revised Scale of Feelings, Attitudes, and Concerns about Inclusive Education (SACIE-R). Findings suggest that the majority of prospective teachers exhibit moderate-to-high levels of self-efficacy. Variables such as non-formal teaching experiences, the reason for joining the MDSE program, and regular interactions with vulnerable individuals, especially in Social and Health Science domains, moderately influence self-efficacy. This study reveals a strong link between the received training and the perceived level of self-efficacy. In particular, participants with higher self-efficacy feel better equipped to handle classroom diversity and rate the MDSE program positively. Areas for enhancement are identified, such as classroom management and diversified assessment strategies. Finally, a positive correlation is observed between high self-efficacy and positive attitudes toward disability, inclusive education principles, and reduced apprehensions about inclusive teaching.

Abstract Background Climate change is one of the main factors shaping the distribution and biodiversity of organisms, among others by greatly altering water availability, thus exposing species and ecosystems to harsh desiccation conditions. However, most of the studies so far have focused on the effects of increased temperature. Integrating transcriptomics and physiology is key to advancing our knowledge on how species cope with desiccation stress, and these studies are still best accomplished in model organisms. Results Here, we characterized the natural variation of European D. melanogaster populations across climate zones and found that strains from arid regions were similar or more tolerant to desiccation compared with strains from temperate regions. Tolerant and sensitive strains differed not only in their transcriptomic response to stress but also in their basal expression levels. We further showed that gene expression changes in tolerant strains correlated with their physiological response to desiccation stress and with their cuticular hydrocarbon composition, and functionally validated three of the candidate genes identified. Transposable elements, which are known to influence stress response across organisms, were not found to be enriched nearby differentially expressed genes. Finally, we identified several tRNA-derived small RNA fragments that differentially targeted genes in response to desiccation stress. Conclusions Overall, our results showed that basal gene expression differences across individuals should be analyzed if we are to understand the genetic basis of differential stress survival. Moreover, tRNA-derived small RNA fragments appear to be relevant across stress responses and allow for the identification of stress-response genes not detected at the transcriptional level.

Abstract Aims To assess the effect of a multicomponent intervention on reducing social isolation and loneliness and improving the quality of life in community‐dwelling older adults. Design A cluster‐randomized controlled clinical trial. Methods A total of 56 older adults participated in the control group and 63 older adults in the experimental group. The intervention consisted of 6 home‐based face‐to‐face sessions, intercalated with 5 telephone calls and was conducted by nursing students and volunteer staff with experience in the subject. The study was conducted between April 2018 and December 2019. In terms of statistical analysis, several procedures were carried out: a statistical analysis per protocol and intention to treat, considering isolation, loneliness and quality of life as endpoints; a comparison of paired means, to analyse the behaviour of the outcome variables at baseline and the end of the study; and finally, a binary logistic regression analysis, considering social support as a dependent variable. Results The study results do not show the effectiveness of the modified CARELINK programme, analysed as a whole, on the decrease in social isolation or loneliness or the improvement in HRQL. However, a detailed analysis of the behaviour of some of the variables during the study indicates some results that deserve to be commented on. Comparing the mean confidential support scores between the experimental and control group at the initial and final stages shows significant differences in the analysis by protocol, and close to statistical significance in the analysis by intention to treat. Comparing the paired means obtained in the experimental group, an improvement in emotional loneliness scores was found. Finally, the variables associated with the social support of the subjects at the end of the follow‐up period were as follows: having people who help them and mobility. Conclusion Although the results obtained do not allow us to affirm that the intervention programme is effective, these same results point to improved confidential support and emotional loneliness in older adults participating in the intervention. Having people to help them and a greater degree of mobility are factors favouring the decrease in social isolation. Impact This study suggested that modified CARELINK, a multicomponent intervention performed by trained volunteers, could improve confidential support in community‐dwelling older adults. It also reports the importance of considering the level of mobility and support networks as determinants of the improvement caused by the intervention.

Abstract Background Escalation in industrialization and anthropogenic activity have resulted in an increase of pollutants released into the environment. Of these pollutants, heavy metals such as copper are particularly concerning due to their bio-accumulative nature. Due to its highly heterogeneous distribution and its dual nature as an essential micronutrient and toxic element, the genetic basis of copper tolerance is likely shaped by a complex interplay of genetic and environmental factors. Results In this study, we utilized the natural variation present in multiple populations of Drosophila melanogaster collected across Europe to screen for variation in copper tolerance. We found that latitude and the degree of urbanization at the collection sites, rather than any other combination of environmental factors, were linked to copper tolerance. While previously identified copper-related genes were not differentially expressed in tolerant vs. sensitive strains, genes involved in metabolism, reproduction, and protease induction contributed to the differential stress response. Additionally, the greatest transcriptomic and physiological responses to copper toxicity were seen in the midgut, where we found that preservation of gut acidity is strongly linked to greater tolerance. Finally, we identified transposable element insertions likely to play a role in copper stress response. Conclusions Overall, by combining genome-wide approaches with environmental association analysis, and functional analysis of candidate genes, our study provides a unique perspective on the genetic and environmental factors that shape copper tolerance in natural D. melanogaster populations and identifies new genes, transposable elements, and physiological traits involved in this complex phenotype.

Background: The COVID-19 pandemic generated uncertainty and disruption among the child and adolescent population. Multiple studies have documented a worsening of mental health following the pandemic. The main objective of this longitudinal study is to analyze the short-, medium-, and long-term evolution of the overall functioning of children and adolescents treated by a child and adolescent mental health team in the context of the COVID-19 pandemic. Methods: 420 patients aged 3 to 18 were assessed using the Global Assessment of Functioning (GAF) scale at three time points: during the lockdown, three months later, and three years later. Differences based on gender, diagnosis, and time were analyzed. Results: A significant improvement was observed in the short-term (three months) and long-term (three years) compared to the lockdown period. This improvement was maintained in all diagnostic subgroups except for mixed cases (severe mental pathology), which showed the least improvement. No significant differences were found between males and females. Conclusions: The child and adolescent population showed a greater capacity for adaptation to the lockdown than expected. Family support, decreased stress, and therapeutic intervention appear to have played an important role in improving mental health.

The clinical manifestation of median nerve entrapment at the carpal tunnel level is known as carpal tunnel syndrome (CTS). Electroneurography (ENG) is considered the gold standard in CTS evaluation. We conducted a retrospective study and analyzed some clinical and demographic variables, relating them to the degree of neuropathy using ENG, to better understand the role of ENG in this very common disease. We studied 816 patients referred to our service for neurographic evaluation. Their symptoms were classified as compatible with CTS (cCTS) (n = 646) and atypical for CTS (aCTS) (n = 170). A blind ENG was performed on 797 patients. Patient characteristics were coded as variables and analyzed to study whether they could predict neuropathy severity (sensory and motor involvement or grade ≥ 3 in our classification). We found a correlation between typical symptomatology, age over 50 years, male gender, positivity of Phalen’s maneuver and Tinel’s sign, and a neuropathy grade ≥ 3. We also found a correlation with CTS in the contralateral hand if the other hand showed neuropathy, despite the lack of symptoms in this hand. We propose a practical algorithm for ENG referral based on clinical symptoms, demographic factors, and neurophysiological variables.

Even in well-studied species, there is still substantial natural genetic variation that has not been characterized. Here, the authors use long read sequencing to discover transposable elements in the Drosophila genome not detected by short read sequencing, and link them to gene expression.

Psychiatric deinstitutionalization (PDI) processes aim to transform long-term psychiatric care by closing or reducing psychiatric hospitals, reallocating beds, and establishing comprehensive community-based services for individuals with severe and persistent mental health difficulties. This scoping review explores the extensive literature on PDI, spanning decades, regions, socio-political contexts, and disciplines, to identify barriers and facilitators of PDI implementation, providing researchers and policymakers with a categorization of these factors. To identify barriers and facilitators, three electronic databases (Medline, CINAHL, and Sociological Abstracts) were searched, yielding 2,250 references. After screening and reviewing, 52 studies were included in the final analysis. Thematic synthesis was utilized to categorize the identified factors, responding to the review question. The analysis revealed that barriers to PDI include inadequate planning, funding, and leadership, limited knowledge, competing interests, insufficient community-based alternatives, and resistance from the workforce, community, and family/caregivers. In contrast, facilitators encompass careful planning, financing and coordination, available research and evidence, strong and sustained advocacy, comprehensive community services, and a well-trained workforce engaged in the process. Exogenous factors, such as conflict and humanitarian disasters, can also play a role in PDI processes. Implementing PDI requires a multifaceted strategy, strong leadership, diverse stakeholder participation, and long-term political and financial support. Understanding local needs and forces is crucial, and studying PDI necessitates methodological flexibility and sensitivity to contextual variation. At the same time, based on the development of the review itself, we identify four limitations in the literature, concerning “time,” “location,” “focus,” and “voice.” We call for a renewed research and advocacy agenda around this neglected aspect of contemporary global mental health policy is needed.

Abstract Background Variation in gene expression underlies interindividual variability in relevant traits including immune response. However, the genetic variation responsible for these gene expression changes remains largely unknown. Among the non-coding variants that could be relevant, transposable element insertions are promising candidates as they have been shown to be a rich and diverse source of cis-regulatory elements. Results In this work, we use a population genetics approach to identify transposable element insertions likely to increase the tolerance of Drosophila melanogaster to bacterial infection by affecting the expression of immune-related genes. We identify 12 insertions associated with allele-specific expression changes in immune-related genes. We experimentally validate three of these insertions including one likely to be acting as a silencer, one as an enhancer, and one with a dual role as enhancer and promoter. The direction in the change of gene expression associated with the presence of several of these insertions is consistent with an increased survival to infection. Indeed, for one of the insertions, we show that this is the case by analyzing both natural populations and CRISPR/Cas9 mutants in which the insertion is deleted from its native genomic context. Conclusions We show that transposable elements contribute to gene expression variation in response to infection in D. melanogaster and that this variation is likely to affect their survival capacity. Because the role of transposable elements as regulatory elements is not restricted to Drosophila, transposable elements are likely to play a role in immune response in other organisms as well.

BackgroundSince the beginning of the COVID-19 pandemic, a great variability of symptoms that affect all organs and systems of the body has been identified in patients with SARS-CoV-2 infection; this symptomatology can sometimes persist over time, giving rise to the so-called long COVID or post-COVID. The aim of this study is to delve into the clinical characterization of these patients, as well as to take into account the influence of factors such as hospitalization, admission to ICU, history of pneumonia, or vaccination status on the persistence of symptoms.Material and methodsAn observational, descriptive, multicenter, and retrospective study was designed with a series of cases of people who presented long COVID, which includes univariate, bivariate, and multivariate analyses. Data were obtained from an online ad hoc questionnaire, and statistical analysis was performed using SPSS Software Version 25 (IBM-Inc., Chicago, IL, USA).ResultsHospitalization, ICU admission, history of pneumonia, and vaccination were predictive factors (positive or negative) for the following long-COVID symptoms: headache, menstrual disorders, joint pain, cough, chills, nasal congestion, back pain, abdominal pain, weight loss, eye discomfort, facial erythema, itching, tremors, dizziness, seizures, sleeping difficulty, dry eyes, palpitations, fatigue, paresthesia, dyspnea, aphonia, chest pain, high blood pressure, vomiting, memory loss, brain fog, hypothermia, low blood pressure, sputum or phlegm, lack of concentration, hair loss, and erectile dysfunction.ConclusionThis study provides evidence on the clinical characterization of patients suffering from long COVID in order to offer them the most appropriate treatments.

La llamada “tercera edad” es una fase de la vida, marcada por prejuicios. La imagen corporal es la representación del cuerpo que cada persona construye en su mente, influenciada por cambios psicológicos. La ropa cambia nuestra manera de pensar y podemos sentirnos superhéroes solamente cambiando la vestimenta. Hablar de moda en la tercera edad, rompiendo los cánones de belleza preestablecidos, es extraño, la “arruga no es bella”, sin embargo, como consumidores, son un grupo activo, y se convertirán en el motor de la llamada silver economy, ya que “Son personas activas a las que les gusta cuidarse, hacer deporte, comer bien, ir a la moda y divertirse”. Sentirse guapa influye en la percepción de la salud, es decir sentirse bien por fuera hace que se sienta bien por dentro. El objetivo de nuestro estudio es evaluar la influencia de la moda en las personas mayores como potenciador de la autoestima, por lo tanto, como mejora de su salud y hacer de Zamora un referente de silverización del sector de la moda. (Espacio fashion week de la moda Silver). Metodología: revisión de la literatura. Resultados alcanzados: las personas mayores son un mercado en aumento, con rentas considerables, buena salud, interés por disfrutar, ilusiones y una estructura de consumo característica, se debería considerar sus exigencias a la hora de diseñar y comercializar haciendo una moda cómoda y funcional. Discusión: son pocos los resultados obtenidos; ante este hecho vemos que es un tema novedoso. Es un tema a desarrollar en nuevas investigaciones. Conclusión: el escaparate que vemos de las personas, es en principio, como va vestida; la forma de combinar los colores, de utilizar los complementos, se sentirse cómoda y elegante, influye sobre la percepción de la salud.

Genomic studies of paleopteran insects, such as mayflies, are needed to reconstruct early insect evolution. Here, Almudi and colleagues present the genome of the mayfly Cloeon dipterum and use transcriptomics to characterize its adaptations to distinct habitats and the origin of insect wings.

Academic performance (AP) is a topic of particular interest in the academic context. Attributions for academic success (AAS) have been shown to have a significant impact on AP, and more specifically internal controllable attributions (ICA) are closely linked to academic success. Similarly, positive emotions (PE) have a significant influence on AP and may in turn be influenced by bullying. This study examines the connections between ICA of academic success and AP mediated through PE in late primary and early secondary school students and analyzes the relationships between PE and bullying categories. Students (N = 562, 49.46% female, Mage = 11.6 SD = 1.2) reported on their perceptions of ICA and PE in relation to exams and their relationship with bullying through validated questionnaires. The AP was obtained as the average mark of all subjects in the immediately preceding assessment. First, a multiple linear regression analysis considering ICA and PE as predictor variables was carried out, which showed a significantly positive link between ICA and PE, between ICA and AP, and between PE and AP. Subsequently, using the SPSS macro PROCESS, a simple mediation model was implemented to quantify the effect of ICA on AP through PE in exams, and finally an ANOVA between the categories of bullying and PE was performed. The results showed a significant indirect relationship with a positive predictive relationship for AP. The model shows that PE proves to be a significant mediator between ICA and AP, and it is shown that students disengaged from bullying score higher in PE.

Abstract Background Transposable elements (TEs) are an important source of genomic variability in eukaryotic genomes. Their activity impacts genome architecture and gene expression and can lead to drastic phenotypic changes. Therefore, identifying TE polymorphisms is key to better understand the link between genotype and phenotype. However, most genotype-to-phenotype analyses have concentrated on single nucleotide polymorphisms as they are easier to reliable detect using short-read data. Many bioinformatic tools have been developed to identify transposon insertions from resequencing data using short reads. Nevertheless, the performance of most of these tools has been tested using simulated insertions, which do not accurately reproduce the complexity of natural insertions. Results We have overcome this limitation by building a dataset of insertions from the comparison of two high-quality rice genomes, followed by extensive manual curation. This dataset contains validated insertions of two very different types of TEs, LTR-retrotransposons and MITEs. Using this dataset, we have benchmarked the sensitivity and precision of 12 commonly used tools, and our results suggest that in general their sensitivity was previously overestimated when using simulated data. Our results also show that, increasing coverage leads to a better sensitivity but with a cost in precision. Moreover, we found important differences in tool performance, with some tools performing better on a specific type of TEs. We have also used two sets of experimentally validated insertions in Drosophila and humans and show that this trend is maintained in genomes of different size and complexity. Conclusions We discuss the possible choice of tools depending on the goals of the study and show that the appropriate combination of tools could be an option for most approaches, increasing the sensitivity while maintaining a good precision.

Para cumplir con los objetivos sanitarios será preciso modificar el modelo de atención, adaptándose a los tiempos actuales; será necesario el desarrollo de las tecnologías informáticas en la salud para prestar una atención con valor añadido. Las Tecnologías de la Información y Comunicación tienen que jugar un papel cada vez más importante en el sistema sanitario con el propósito de mejorar la salud de las personas de una manera eficiente, y representarán un cambio de paradigma tanto para los enfermos como para los profesionales y las organizaciones sanitarias. Objetivo: conocer la mejor evidencia disponible relacionada con la implantación del programa de teleenfermería/telemedicina para la reducción de la carga de las enfermedades crónicas, seguimiento de los cuidados y dar mayor accesibilidad al sistema. Material y Método: Revisión bibliográfica de la literatura. Resultados: La teleenfermería resultó ser eficaz, en la educación y el asesoramiento para el autocuidado por personal de enfermería que proporciona educación a pacientes con diabetes, hipertensión arterial, dislipemias, insuficiencia cardiaca, disminuyendo los ingresos hospitalarios. Reduce el número de visitas a la consulta, los costes y distancias. Discusión: La rápida información sobre el estado de los pacientes, es una de sus mejores armas, supone un avance importante ya que la tendencia actual es que los pacientes mejoren y tomen responsabilidades sobre su “autocuidado”

Objective: To analyze the influence of different risk factors on the age at which a stroke occurs. Method: An observational cross-sectional study was conducted including all patients admitted consecutively with ischemic stroke at the University Hospital of Burgos (Spain). Sociodemographic and clinical, parameters were collected, exploring possible association with patient’s age by univariate and multivariate analysis. Results: 436 patients were included, with a mean age of 75.39 years (SD ±12.674). The most frequent risk factors were high blood pressure and cardiovascular disease. In the case of having a personal history of arterial hypertension (Odds Ratio [OR] 2.49; 95% Confidence Interval [CI] 1.49-4.16), having a sedentary lifestyle (OR 3.24; 95%CI 1.97-5.31) was related with a greater probability that the patient is aged 75 years or older. However, being overweight/obese (OR 0.51; 95%CI 0.30-0.88), being an active smoker (OR 0.47; 95%CI 0.02-0.11) or alcohol consumption (OR 0.42; 95%CI 0.26-0.69) increased the probability of stroke occurrence before 75 years. Conclusion: The age of occurrence of a case is related to the occurrence of certain risk factors, which are determined in the planning of future education campaigns.

Objective: To develop a protocol in thecare of patients with advanced dementiaand feed problems,according to thescientific evidence. Method: A systematic review was carried out, consulting CUIDEN, EMBASE, MEDLINE, SCIELO, HEALTH GUIDE and NHS databases as well as protocols of Scientific Societies and Health Centers. The DeCs and MeSH terms related to the objective of the study were used. Studies published in English or Spanish were selected, since 2000, which assessed dysphagia and eating disorders in the person with dementia, with at least the summary available. Results: Nine studies were selected, whose results allowed to develop an action protocol in patients with advanced dementia and feed problems. In the protocol obtained, any intervention in this type of patients should be based on the previous comprehensive geriatric and nutritional assessment. Conclusion: The implementation of the dysphagia and eating disorders protocol in patients with advanced dementia improves their clinical and nutritional status.

Music therapy is the use of music and all kinds of musical experiences to restore, maintain and / or improve the physical and psychological health of people. Music therapy is a therapy that supports pharmacological therapy and is part of one of the complementary therapies recommended by the World Health Organization to nurses as one of the strategies to achieve the goal of “Health for all” in the year 2000 . The intervention programs are specifically designed to meet the individual needs of people and help them in achieving different therapeutic objectives, which can be directed to the following dimensions: physical, cognitive, socio-emotional and / or spiritual. The objective of this review is to evaluate the available evidence on the beneficial effects of the application of music as a nurse intervention. A systematic review has been carried out in the main databases, Medlin, Cochrane Plus, Scielo, Cuiden, Scopus, google scholar, tripdatabase. 48 studies were found using different combinations of the descriptors. Following the inclusion and exclusion criteria, after a first selection of reading the title and summary, 35 articles were selected. 3 articles of referential search are added. After reading the full article we are left with 7 articles that are the reason for our review, the 14 articles are 10 Systematic Reviews and 4 Randomized Clinical Trials, in the absence of Meta-analysis. After the detailed analysis of the bibliography, we can conclude that a good use of music produces positive effects in patients, this being an economic and complementary intervention of pharmacology. Positive effects occur in hospitalized patients, with cancer, with depression and in patients undergoing invasive processes

This descriptive transversal research studies the relationship between number of falls in the last month and fall risk on one side; and frailty situation in older adults on the other side; through a 194 old institutionalized people sample. Frailty is measured with the Short Physical Performance Battery; previous falls in the last month are measured with the number of events, and fall risk with Downton scale. The results do not show any significant differences in frailty groups related to the number of previous falls in the last month. However, significant differences do exist between frailty groups established in SPPB and fall risk; then, since descriptive results, they show how the arithmetical averages in fall risk increase as the continuum robust-prefrail-frail-dependent advances towards dependency. Concerning differences between groups, it is found that dependent group has got significant differences with all other (p=,001), there are significant differences also in frail-robust (p=,003). In opposition, the relation frail-prefrail and frail-robust do not show any significant differences Results allow the detection of high level fall risk population, which enables early intervention implementations aimed to falls prevention based on differences found between groups.

This descriptive transversal research studies frailty situation in older adults and basic and instrumental activities of daily living relationship through a 194 old institucionalized people sample. Frailty is measured with the Short Physical Performance Battery; basic activities of daily living with Barthel Index and instrumental activities of daily living with Lawton and Brody scale. Descriptive results show how the arithmetical averages in both activities of daily living decrease as the continuum robust-prefrail-frail-dependent advances towards dependency. There are significant differences in all subscales of Short Physical Performance Battery, as well as in Barthel and Lawton and Brody (p,001). Regarding to Barthel and SPPB groups, significant differences among all of them were found (,007p,001), except in the robust-prefrail relation, where differences are not meaningful. Concerning Lawton and Brody, differences are significant (,041p,001); except in fragil-prefrail relation. The differences found between groups allow an early diagnosis and interventions aimed to prevent or reverse the progress towards a dependency situation.

Abstract Transposable elements (TEs) are not randomly distributed in the genome. A genome-wide analysis of the D. melanogaster genome found that differences in TE density across 50 kb genomic regions was due both to transposition and duplication. At smaller genomic scales, promoter regions of hsp genes and the promoter region of CG18446 have been shown to accumulate TE insertions. In this work, we have further analyzed the promoter region of CG18446. We screened 218 strains collected in 15 natural populations, and we found that the CG18446 promoter region contains 20 independent roo insertions. Based on phylogenetic analysis, we suggest that the presence of multiple roo insertions in this region is likely to be the result of several bursts of transposition. Moreover, we found that the roo insertional cluster in the CG18446 promoter region is unique: no other promoter region in the genome contains a similar number of roo insertions. We found that, similar to hsp gene promoters, chromatin accessibility could be one of the factors explaining the recurrent insertions of roo elements in CG18446 promoter region.

To advance our understanding of adaptation to temporally varying selection pressures, we identified signatures of seasonal adaptation occurring in parallel among Drosophila melanogaster populations. Specifically, we estimated allele frequencies genome-wide from flies sampled early and late in the growing season from 20 widely dispersed populations. We identified parallel seasonal allele frequency shifts across North America and Europe, demonstrating that seasonal adaptation is a general phenomenon of temperate fly populations. Seasonally fluctuating polymorphisms are enriched in large chromosomal inversions, and we find a broad concordance between seasonal and spatial allele frequency change. The direction of allele frequency change at seasonally variable polymorphisms can be predicted by weather conditions in the weeks prior to sampling, linking the environment and the genomic response to selection. Our results suggest that fluctuating selection is an important evolutionary force affecting patterns of genetic variation in Drosophila.

Estudio descriptivo y transversal que pretende estableces la relación de la situación de fragilidad en adultos mayores institucionalizados y la calidad de vida de los mismos en una muestra compuesta por 194 participantes. La fragilidad se mide con la herramienta Short Physical Performance Battery y la calidad de vida con la escala GENCAT; ambas con buenas propiedades psicométricas. Los resultados muestran que existen diferencias significativas entre los grupos de fragilidad en relación a la calidad de vida, tanto en su puntuación total como en cada una de sus subescalas. Además, tomando el valor numérico total de la escala SPPB, aparece una correlación estadísticamente significativa con la puntuación total en calidad de vida y con todas sus subescalas; de forma que, a medida que el estado de fragilidad avanza hacia la dependencia, la calidad de vida disminuye. Los resultados sugieren que, el síndrome de fragilidad, además de tratamientos encaminados a paliar el deterioro físico y funcional de las personas mayores, debería ser abordado igualmente desde las esferas social y emocional.