bluuebunny/crossref_metadata_2025_split huggingface dataset:
DNAJB2‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening
Authors: Saveri Paola , Magri Stefania , Maderna Emanuela , Balistreri Francesca , Lombardi Raffaella , Ciano Claudia , Moda Fabio , Garavaglia Barbara , Reale Chiara , Lauria Pinter Giuseppe , Taroni Franco , Pareyson Davide , Pisciotta Chiara 
Published: March 2022

AbstractBackground and purposeMutations in DNAJB2 are associated with autosomal recessive hereditary motor neuropathies/ Charcot‐Marie‐Tooth disease type 2 (CMT2). We describe an Italian family with CMT2 due to a homozygous DNAJB2 mutation and provide insight into the pathomechanisms.MethodsPatients with DNAJB2 mutations were characterized clinically, electrophysiologically and by means of skin biopsy. mRNA and protein levels were studied in lymphoblastoid cells (LCLs) from patients and controls.ResultsThree affected siblings were found to carry a homozygous DNAJB2 null mutation segregating with the disease. The disease manifested in the second to third decade of life. Clinical examination showed severe weakness of the thigh muscles and complete loss of movement in the foot and leg muscles. Sensation was reduced in the lower limbs. All patients had severe hearing loss and the proband also had Parkinson’s disease (PD). Nerve conduction studies showed an axonal motor and sensory length‐dependent polyneuropathy. DNAJB2 expression studies revealed reduced mRNA levels and the absence of the protein in the homozygous subject in both LCLs and skin biopsy. Interestingly, we detected phospho‐alpha‐synuclein deposits in the proband, as already seen in PD patients, and demonstrated TDP‐43 accumulation in patients’ skin.ConclusionsOur results broaden the clinical spectrum of DNAJB2‐related neuropathies and provide evidence that DNAJB2 mutations should be taken into account as another causative gene of CMT2 with hearing loss and parkinsonism. The mutation likely acts through a loss‐of‐function mechanism, leading to toxic protein aggregation such as TDP‐43. The associated parkinsonism resembles the classic PD form with the addition of abnormal accumulation of phospho‐alpha‐synuclein.
Reconsidering animal models used to study autism spectrum disorder: Current state and optimizing future
Authors: Silverman Jill L. , Thurm Audrey , Ethridge Sarah B. , Soller Makayla M. , Petkova Stela P. , Abel Ted , Bauman Melissa D. , Brodkin Edward S. , Harony‐Nicolas Hala , Wöhr Markus , Halladay Alycia 
Published: March 2022

AbstractNeurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are pervasive, often lifelong disorders, lacking evidence‐based interventions for core symptoms. With no established biological markers, diagnoses are defined by behavioral criteria. Thus, preclinicalin vivoanimal models of NDDs must be optimally utilized. For this reason, experts in the field of behavioral neuroscience convened a workshop with the goals of reviewing current behavioral studies, reports, and assessments in rodent models. Goals included: (a) identifying the maximal utility and limitations of behavior in animal models with construct validity; (b) providing recommendations for phenotyping animal models; and (c) guidelines on howin vivomodels should be used and reported reliably and rigorously while acknowledging their limitations. We concluded by recommending minimal criteria for reporting in manuscripts going forward. The workshop elucidated a consensus of potential solutions to several problems, including revisiting claims made about animal model links to ASD (and related conditions). Specific conclusions included: mice (or other rodent or preclinical models) are models of the neurodevelopmental insult, not specifically any disorder (e.g., ASD); a model that perfectly recapitulates a disorder such as ASD is untenable; and greater attention needs be given to validation of behavioral testing methods, data analysis, and critical interpretation.
Global distribution and drivers of forest biome foliar nitrogen to phosphorus ratios (N:P)
Authors: Vallicrosa Helena , Sardans Jordi , Maspons Joan , Peñuelas Josep 
Published: March 2022

AbstractAimThe aim was to create global maps of foliar nitrogen‐to‐phosphorus (N:P) ratios across ecosystems, based on modelled climate, soil, and N and P deposition data, to identify global drivers of woody vegetation N:P ratios and to explore the role of genetic legacy (phylogenetics) in foliar N:P ratios of woody plants.LocationWoody cover globally.Time periodPresent; data collected from 1990 to 2016.Major taxa studiedWoody plants.MethodsWe compiled a database of 20,851 foliar N:P records and assigned them into boreal, temperate coniferous, temperate broadleaved and tropical groups. We applied neural networks to predict N:P global distribution maps, generalized linear models to assess environmental drivers and generalized linear mixed models to disentangle the effect of genetic legacy.Results and main conclusionsFoliar N:P ratios are negatively associated with latitude, with higher N:P ratios occurring in tropical forests and lower N:P ratios in boreal forests. Globally, N:P ratios indicate greater levels of P limitation than N limitation. The influence of environmental factors varied among the four forest biomes, probably owing to contrasting combined environmental conditions; this finding would have been obscured had we conducted a single “forest biome” analysis. Genetic legacy explained significant variation in woody plant foliar N:P ratios, and we suggest its inclusion in future studies to improve N:P ratio predictions.
Moving internationalisation beyond exceptionalism using the MARS model
Authors: Hunter Fiona , Sparnon Neil , Latorre Paulina 
Published: March 2022

AbstractThis paper considers the changing nature of internationalisation in higher education in response to the COVID‐19 pandemic and how this change has required institutions to strengthen the case for internationalisation by linking it more explicitly to institutional purpose. It argues that this development requires institutions to formulate approaches to internationalisation that are explicitly linked to vision and mission statements, that often directly cite the support and development of society in general and local communities specifically, as strategic institutional priorities. In turn, this requires an examination of how internationalisation is addressed in strategic statements and the implications for practical delivery. The paper is underpinned by the authors' understanding of the nature and operation of institutions of higher education which is exemplified by the MARS model. It briefly describes this model and argues that within it, internationalisation activities should be seen as a transversal theme, which affects all operations of the institution in a coordinated matter, rather than an isolated or “exceptional” activity which can be allocated exclusively to specialised units such as the International Office—termed “exceptionalism”. Exploring this theme further, the paper sets out how internationalisation should be embedded into all aspects of institutional operations in a way that is consistent with the hierarchy of priorities set out in the MARS model. A case study from Latin America in which this approach was adopted is presented in which some of the practical implications are considered. The paper concludes by exploring the implications of these outcomes and the potential for, and the nature of, future applications of the MARS model to the development and delivery of re‐imagined internationalisation strategies in the post‐COVID‐19 world.
Efficacy of an electronic reminder for HIV screening in primary healthcare based on indicator conditions in Catalonia (Spain)
Authors: Agustí Cristina , Cunillera Oriol , Almeda Jesús , Mascort Juanjo , Carrillo Ricard , Olmos Carmen , Montoliu Alexandra , Alberny Mireia , Molina Izarbe , Cayuelas Laia , Casabona Jordi 
Published: March 2022

AbstractObjectiveThe aim of this study was to assess the efficacy of an electronic reminder in primary healthcare in patients diagnosed with an indicator condition (IC) to improve HIV screening.MethodsWe developed a prospective interventional study in 51 primary healthcare centres in Barcelona randomly assigned into one of two study groups: control and alert. Between June 2018 and May 2019, an electronic reminder appeared in the electronic medical record each time a diagnosis of an IC in patients aged 16–65 years was registered in the alert group. We assessed HIV testing rates within 4 months following the diagnosis of an IC.ResultsIn all, 13 000 patients were diagnosed with at least one IC. HIV testing was more likely in the alert group than in the control group. The electronic reminder multiplied the odds of being tested in men by 1.26 [95% confidence interval (CI): 1.04–1.52, p = 0.019], by 1.77 (95% CI: 1.33–2.38, p < 0.001) among patients aged < 50 years , and by 1.51 (95% CI: 1.20–1.92, p < 0.001) in diagnoses of IC other than a sexually transmitted infection (STI) or an AIDS‐defining illness. Five (0.08%) cases of HIV were detected in the control group and 10 (0.17%) in the alert group.ConclusionsImplementing an electronic reminder had a positive impact on HIV screening rates in patients diagnosed with an IC. The alert was more effective among older patients, those living in less socioeconomically deprived neighbourhoods, and those with an IC other than an STI or an AIDS‐defining illness.
Targeting glycolysis in Th2 cells by pterostilbene attenuates clinical severities in an asthmatic mouse model and IL‐4 production in peripheral blood from asthmatic patients
Authors: Liu Chuan‐Teng , Song Ying‐Chyi , Wu Tsai‐Chen , Shiung Ko‐Chieh , Chen I‐Hsuan , Chang Tung‐Ti , Liang Shinn‐Jye , Yen Hung‐Rong 
Published: March 2022

AbstractAsthma, a major non‐communicable disease, affects both adults and children and is associated with high morbidity compared with other chronic diseases. The glycolysis‐associated activation of type 2 helper T (Th2) cells is the critical immunopathological mechanism involved in asthma deterioration. Long‐term use of steroids as a medical treatment for asthma induces side effects and resistance. Pterostilbene (PS), a stilbenoid compound found in blueberry and vines, exhibits antihyperglycemic and anti‐inflammatory properties. Thus, we hypothesized that the modulation of T cell immunity by PS may be an applicable intervention to treat asthma. Airway hyperresponsiveness, interleukin (IL)‐4 and IL‐13 levels, IgE, IgG, pulmonary infiltrated monocytes and eosinophils, and mucosubstances were measured in house dust mite (HDM)‐induced asthmatic mice under PS treatment. Bioenergetic metabolism, PI3K‐mTOR signalling, GATA3 expression and histone acetylation in PS‐treated Th2 cells were investigated. PS improved HDM‐induced pulmonary allergic airway inflammation by inhibiting Th2 cell and eosinophil accumulation in HDM asthmatic mice both in the preventive and therapeutic models. Targeting glycolysis resulted in IL‐4 inhibition via the downregulation of mTOR, GATA3 and histone acetylation in PS‐treated Th2 cells. Glucose supplementation reversed the inhibitory effect of PS on Th2 cells in vitro. Adoptive transfer with glucose‐treated Th2 cells enhanced Th2 activation and eosinophilic accumulation in PS‐treated asthmatic mice. Furthermore, PS significantly inhibited IL‐4 production of CD4+ T cells from the peripheral blood mononuclear cells of patients with asthma. PS attenuates HDM‐induced asthma via the inhibition of the Glut1/mTOR/GATA3 axis in Th2 cells, which supports the potential pharmaceutical application of PS treatment for asthma.
Comparing low sensory enabling (LSE) and high sensory enabling (HSE) virtual product presentation modes in e‐commerce
Authors: Kinzinger Arno , Steiner Winfried , Tatzgern Markus , Vallaster Christine 
Published: March 2022

AbstractOnline shops have become increasingly interactive, using different technologies to create virtual experiences that attempt to simulate a realistic product experience. We explore the impact of high sensory enabling (HSE) virtual product presentation modes using state‐of‐the‐art virtual reality (VR) technology that allows consumers to imitate natural movement and interactions via head‐mounted displays (HMD) and dual hand VR controllers. This will compare the HSE virtual product presentation mode with a typical low sensory enabling (LSE) virtual product presentation mode that utilises conventional computer screens, along with mouse and keyboard inputs, on a desktop computer. For the HSE virtual product presentation mode, the results show significantly higher values for the studied variables, including presence, perceived diagnosticity, attitude towards product, and purchase intention. Shopping frequency has a moderating effect on the significant differences of presence between presentation modes. Our research contributes to theory by building on attitude theory, cue summation theory, as well as repetitive learning and memory to explore and explain the effects of HSE virtual product presentation modes on the constructs considered. For managers and industry leaders, this study identifies the importance of using state‐of‐the‐art technology when creating HSE virtual experiences for their products.
Determinants of food selection by bivalve larvae
Authors: Rosa Maria , Padilla Dianna K. 
Published: March 2022

AbstractSelection of food particles for consumption by larvae impacts nutritional gain needed for growth, development, and metamorphosis. Past work has suggested that molluscan larvae are capable of collecting food within a narrow size range. Recent studies have found evidence of size‐independent food selection in molluscan larvae, but relatively little is known about the characteristics of particles that larvae preferentially capture. Therefore, we conducted experiments with the larvae of two mussels, Mytilus trossulus and Mytilus edulis, to determine whether they are selective feeders, and if so, whether we could determine the characteristics of particles selected as food. We fed larvae microalgae and polystyrene microspheres of different sizes, nutritional content, surface charge, and hydrophobicity. We found that for both species, there was no effect of size on particle selection for particles 2–8 μm, but, surprisingly, these two congeners preferentially captured particles with different characteristics. Larvae of M. trossulus preferentially captured particles that were more hydrophilic and had a more negative surface charge, but there was no effect of nutritional content. The larvae of M. edulis showed a different pattern; they preferentially captured particles with low surface charge and greater food value, but hydrophobicity did not affect selection. Larvae of these two congeners are indeed selective in which particles they collect but appear to be using different rules for selection. More work is needed to determine whether there are any general patterns that govern particle selection for larvae and mechanisms that could produce the observed patterns. Such work is needed to help us to determine whether individual species use different rules or whether there are general patterns in the types of particles larvae select.
Exploring Bacillus thuringiensis as a model for endospore adhesion and its potential to investigate adhesins in Pasteuria penetrans
Authors: Srivastava Arohi , Mohan Sharad , Davies Keith G. 
Published: March 2022

Abstract

Aims
Phytonematodes are a constraint on crop production and have been controlled using nematicides; these are highly toxic and legislation in Europe and elsewhere is prohibiting their use and alternatives are being sought. Pasteuria penetrans is a hyperparasitic bacterium that form endospores and have potential to control root-knot nematodes (Meloidogyne spp.), but their attachment to the nematode cuticle is host-specific. Understanding host specificity has relied upon endospore inhibition bioassays using immunological and biochemical approaches. Phylogenetic analysis of survey sequences has shown P. penetrans to be closely related to Bacillus and to have a diverse range of collagen-like fibres which we hypothesise to be involved in the endospore adhesion. However, due to the obligately hyperparasitic nature of Pasteuria species, identifying and characterizing these collagenous-like proteins through gain of function has proved difficult and new approaches are required.

Methods and Results
Using antibodies raised to synthetic peptides based on Pasteuria collagen-like genes we show similarities between P. penetrans and the more easily cultured bacterium Bacillus thuringiensis and suggest it be used as a gain of function platform/model. Using immunological approaches similar proteins between P. penetrans and B. thuringiensis are identified and characterized, one &gt;250 kDa and another ~72 kDa are glycosylated with N-acetylglucosamine and both of which are digested if treated with collagenase. These treatments also affected endospore attachment and suggest these proteins are involved in adhesion of endospores to nematode cuticle.

Conclusion
There are conserved similarities in the collagen-like proteins present on the surface of endospores of both P. penetrans and B. thuringiensis.

Significance and Impact of Study
As B. thuringiensis is relatively easy to culture and can be transformed, it could be developed as a platform for studying the role of the collagen-like adhesins from Pasteuria in endospore adhesion.
Profiles of adult people in a Spanish sample with chronic pain: Cluster analysis
Authors: Cáceres‐Matos Rocío , Gil‐García Eugenia , López‐Millán José Manuel , Martínez‐Navas Ángel , Peña Isaac , Cabrera‐León Andrés 
Published: March 2022

AbstractAimTo establish groups of people with chronic non‐cancer pain according to the impairment caused by pain and to identify factors associated with the group with a higher level of impairment.BackgroundKnowing the profiles of people who suffer from chronic non‐cancer pain could make it possible to direct their treatment and to detect associated risks.DesignA cross‐sectional study.MethodsA sample of 395 people with chronic non‐cancer pain was collected in Pain Units and Primary Healthcare Centres in southern Spain (January to March 2020). A cluster analysis was performed to divide the population into groups and a binary logistic regression model was established to determine factors associated with the group with a higher level of impairment.ResultsTwo groups were identified: lower level of impairment due to pain, characterized by being 45–65 years old, not medicated with opioids or anxiolytics, employed and with a mild level of impact on daily life; and higher level of impairment characterized by being older than 65 years old, medicated with opioids and anxiolytics, retired or on medical leave and with a severe impact on daily life. In addition, among women, being widowed, single or a smoker are risk factors for belonging to the group with a higher level of impairment; being smokers or consuming alcohol three or less times a week would be risk factors in men.ConclusionsAge, chronic non‐cancer pain impact on daily life, work situation and the consumption of opioid drugs and/or anxiolytics are factors that appear to influence the level of impairment due to chronic pain.ImpactThese findings could help detect impairment due to pain in its early stages, determining the specific needs of each person.
A qualitative exploration of the National Academy of medicine model of well‐being and resilience among healthcare workers during COVID‐19
Authors: Munn Lindsay T. , Huffman Carolyn S. , Connor C. Danielle , Swick Maureen , Danhauer Suzanne C. , Gibbs Michael A. 
Published: March 2022

AbstractAimsThe aim of this research was to explore factors affecting the well‐being and resilience of healthcare workers (HCWs) during COVID‐19.DesignQualitative content analysis of survey responses to a single, open‐ended question.MethodsThe study took place in June and July 2020 in the Mid‐Atlantic United States. Qualitative data from 452 HCWs were analysed with deductive content analysis, using a National Academy of Medicine model of factors affecting clinician well‐being and resilience. The study is reported according to the Standards for Reporting Qualitative Research and the Consolidated Criteria for Reporting Qualitative Research.FindingsThe findings reflect each of the seven domains of the National Academy of Medicine model, demonstrating the diverse factors that have impacted the well‐being and resilience of HCWs during the COVID‐19 pandemic. The results of the study show that factors within the workplace have significantly impacted the well‐being and resilience of HCWs during the pandemic, in particular, the practice environment and the rules and regulations implemented by healthcare organizations. At the same time, individual and even societal factors have also affected well‐being during the pandemic, but not to the same degree as factors within the workplace.ConclusionThe research findings illustrate how multiple, diverse factors have influenced the well‐being and resilience of HCWs during the pandemic. The study has practical relevance for healthcare leaders and important implications for future research.ImpactHealth system leaders can address the well‐being and resilience of healthcare workers by implementing solutions that address health system factors like the practice environment and the policies and procedures of the organization. Researchers should not only focus on individual factors associated with professional well‐being but must also expand research and interventional studies to include the system and environmental factors that significantly affect clinicians.
Colonization rather than fragmentation explains the geographical distribution and diversification of treefrogs endemic to Brazilian shield sky islands
Authors: Oswald Caroline Batistim , Lemes Priscila , Thomé Maria Tereza C. , Pezzuti Tiago Leite , Santos Fabricio Rodrigues , Garcia Paulo Christiano de Anchietta , Leite Felipe Sá Fortes , de Magalhães Rafael Félix 
Published: March 2022

AbstractAimGeographical patterns of montane biodiversity worldwide are related to biotic and abiotic factors, such as historical climate dynamics and species dispersal capabilities, which affect the biota from population to community levels. Understanding of processes related to population diversification in extra‐Andean Neotropical mountains remains largely unknown. Here, we tested how colonization of new areas as opposed to fragmentation of geographical ranges influenced the distribution and diversification of frogs from Brazilian mountains.LocationEspinhaço Range, the largest extra‐Andean mountain range in South America.TaxonLedge treefrog Bokermannohyla saxicola.MethodsWe used multilocus DNA and morphometric data throughout the species' distribution to delimit lineages, infer phylogenetic relationships and estimate divergence times. We used ecological niche modelling (ENM) and approximate Bayesian computation (ABC) to reconstruct changes of geographical distribution and population sizes for testing alternative hypotheses of diversification concerning fragmentation and colonization.ResultsWe found four evolutionary significant lineages that diverged from the Pliocene to the Early Pleistocene. All lineages were validated by DNA and morphometric data by independent and joint analyses. ENM showed that climatic fluctuations might have influenced the species' distribution, whereas ABC model selection further supports associated demographic changes. Taken together, a Pleistocene jump‐dispersal scenario best explains the diversification of the Bokermannohyla saxicola lineages.Main conclusionsEndemism in the Espinhaço Range is usually explained by ancient diversification, associated with long‐term isolation of climatic stable areas following climate‐driven habitat fragmentation. Our results challenge this general view, indicating recent diversification, habitat expansion and colonization of new areas as important processes explaining the current distribution and genetic diversity of B. saxicola.