bluuebunny/crossref_metadata_2025_split huggingface dataset:
Indian Rare Disease Stakeholder Mapping
Authors: Chakraborty Choudhury Mohua , George Jerry Philip , Srinivas Prashanth N 
Published: July 2024

AbstractRare diseases (RD) aren’t rare collectively, affecting around 300 million people globally and 96 million in India. In low- and middle-income countries like India, policies addressing these diseases have only recently been enacted. In 2021, India launched its first functional RD policy. This study comprehensively maps all stakeholders in the RD ecosystem in India to understand their power positions, influence, and needs, thereby enabling better implementation strategies for the RD policy. We conducted in-depth interviews with various stakeholders to understand their perspectives and supplemented the study with media analysis to reach those who did not respond to interview invitations. Our findings suggest a lack of awareness and knowledge about RDs among healthcare professionals who do not specialize in RDs. Encouraging and formalizing the involvement of RD patient organizations in policy-making is crucial due to their high knowledge, interest, and constructive critical capabilities despite their low power. Another important stakeholder group, local companies, can drive innovation and make treatments accessible for RDs but have much lower power than multinational companies, potentially leading to policies that do not favor local needs.
Neuroimaging Findings and Balance Problems after Mild Traumatic Brain Injury: A Systematic Review Protocol
Authors: Boscarello Todd , Boparai Robby , Samson Nathan , Rodriguez Alan , Knoblauch Thomas , Vanier Cheryl , Snyder Travis 
Published: July 2024

AbstractObjectiveTo systematically review studies relating neuroimaging findings to balance problems resulting from a history of mTBI.IntroductionMild traumatic brain injury affects 55.9 million people worldwide every year. These injuries can have persistent symptoms such as maintaining balance which can be life-altering. Difficulties maintaining balance persist months or years after a mild traumatic brain injury in >30% of patients. Neuroimaging modalities, including magnetic resonance imaging, diffusion-weighted imaging, functional magnetic resonance imaging, electroencephalography, and magnetoencephalography, have been associated with presentation or persistence of balance difficulties, but no clinical guidelines are currently in place.Inclusion CriteriaStudies will include participants of any age or sex who were diagnosed as having mild traumatic brain injury by a medical professional, excluding studies which by design included patients with other conditions diagnosed using neuroimaging findings. There must be at least one post-injury scan from at one or more of the included neuroimaging modalities, and assessment of balance problems. A comparator must be present in the form of either a control group or longitudinal design.MethodsA search will be conducted in Elsevier (Embase), MEDLINE (PubMed), Google Scholar, SportDiscus (EBSCOhost) and ProQuest for studies meeting the inclusion criteria, published 2013-2024, and available in English. Reviews will not be included. The process of study selection, critical assessment, data extraction, and summarizing findings will be conducted by two independent reviewers, with disagreements resolved by a third. The meta-analysis will summarize the strength of association between specific findings related to brain regions using various neuroimaging modalities and the presentation or persistence of balance difficulties. Evidence related to each neuroimaging modality will summarized using the GRADE approach.
Caries status, caries severity, and oral health-related quality of life of preschool children in Kuantan
Authors: Ramli Muhammad Zaki , Azmi Nina Suhaity , Ismail Ahmad Faisal 
Published: July 2024

AbstractDental caries among preschool children is prevalent and may affect their oral health-related quality of life (OHRQOL). The aim of this study was to assess the oral health-related quality of life (OHRQOL) of preschool children from Kuantan in relation to their dental caries status and severity. A cross-sectional survey using the Malay version of Early Childhood Oral Health Impact Scale (Malay-ECOHIS) involving preschool children aged three until six years old was conducted employing a convenience sampling. The dmft score of the preschool children was evaluated by a professional pediatric dentist, and the body mass index (BMI) was recorded. The caries status data was classified into either Absent (dmft = 0) or Present (dmft ≥ 1), while caries severity data was categorized into No Caries (dmft = 0), Moderate (dmft = 1 or 2), and High (dmft ≥ 3), depending on the caries experience. The Pearson Chi-square and Spearman correlation analyses were conducted. A high caries prevalence was recorded (89.1%), affecting 55 preschool children. They were more impacted than their family in terms of their OHRQOL, and those with high caries severity and those from low household income showed the lowest OHRQOL. However, since most of them were from high household income, their families were not financially impacted. It is important to not only assess the caries status of the preschool children when assessing their OHRQOL, but also their caries severity.
Seq2scFv: a toolkit for the comprehensive analysis of display libraries from long-read sequencing platforms
Authors: Bachmann Salvy Marianne , Santuari Luca , Schmid-Siegert Emanuel , Lykoskoufis Nikolaos , Xenarios Ioannis , Arpat Bulak 
Published: July 2024

AbstractAntibodies have emerged as the leading class of biotherapeutics, yet traditional screening methods face significant time and resource challenges in identifying lead candidates. Integrating highthroughput sequencing with computational approaches marks a pivotal advancement in antibody discovery, expanding the antibody space to explore. In this context, a major breakthrough has been the full-length sequencing of single-chain variable fragments (scFvs) used inin vitrodisplay libraries. However, few tools address the task of annotating the paired heavy and light chain variable domains (VH and VL), which is the primary advantage of full-scFv sequencing. To address this methodological gap, we introduce Seq2scFv, a novel open-source toolkit designed for analyzingin vitrodisplay libraries from long-read sequencing platforms. Seq2scFv facilitates the identification and thorough characterization of V(D)J recombination in both VH and VL regions. In addition to providing annotated scFvs, translated sequences and numbered chains, Seq2scFv enables linker inference and characterization, sequence encoding with unique identifiers and quantification of identical sequences across selection rounds, thereby simplifying enrichment identification. With its versatile and standalone functionality, we anticipate that the implementation of Seq2scFv tools in antibody discovery pipelines will efficiently expedite the full characterization of display libraries and potentially facilitate the identification of high-affinity antibody candidates.
Walking entrains unique oscillations for central and peripheral visual detection
Authors: Phan Cameron K. , Davidson Matthew J. , Alais David 
Published: July 2024

AbstractIt is important to investigate perception in the context of natural behaviour in order to reach a holistic account of how sensory processes are coordinated with actions. In particular, the effect of walking upon perceptual and cognitive functions has recently been investigated in the context of how common voluntary actions may dynamically impact upon visual detection. This work has revealed that walking can enhance peripheral visual processing, and that during walking, performance on a visual detection task oscillates through good and bad periods within the phases of the stride-cycle. Here, we extend this work by examining whether oscillations in visual detection performance are uniform across the visual field while walking. Participants monitored parafoveal (∼3.7 d.v.a) and peripheral (∼7 d.v.a) locations left/right of fixation for the onset of targets while walking at a natural pace in wireless virtual reality. For targets at all locations accuracy, reaction times and response likelihood oscillated within each individual’s stride-cycle, at primarily 2 or 4 cycles per stride. Importantly, oscillations in accuracy and reaction time shared the same frequency at both locations but were decreased in amplitude and phase-lagged in the periphery, revealing an interaction between visual field locations and oscillations in performance. Together, these results demonstrate that oscillations in visual performance entrained by the stride-cycle occur with unique amplitudes and phases across the visual field.
Autoregulation of cluster root and nodule development by white lupin CCR1 receptor-like kinase
Authors: Marquès Laurence , Divol Fanchon , Boultif Alexandra , Garcia Fanny , Soriano Alexandre , Maurines-Carboneill Cléa , Fernandez Virginia , Verstraeten Inge , Pidon Hélène , Izquierdo Esther , Hufnagel Bárbara , Péret Benjamin 
Published: July 2024

ABSTRACTRoot development is controlled by local and systemic regulatory mechanisms that optimize mineral nutrient uptake and carbon allocation. The Autoregulation of Nodulation (AoN) pathway defines a negative regulation of nodule development in Legumes as a way to regulate the costly production of nitrogen-fixing organs. This pathway is defined as a response to symbiotic interaction and has been shown to also control root formation to some extent. However, it remains unclear if root and nodule development are under coordinated genetic regulation. Here, we identified mutants with altered root development in white lupin, constitutively producing specialized lateral roots called cluster roots. We showed that the CCR1 receptor-kinase negatively regulates cluster root and nodule development and targets common molecular modules such as NIN/LBD16-NFYA, defining a novel pathway that we named Autoregulation of Development (AoDev). AoDev defines a negative systemic pathway controlling several types of root organ development, independently of symbiotic partners and nutrient availability.
Discovery of a novelTrichurisspecies,T. incognita, with low sensitivity to albendazole-ivermectin treatment in Côte d’Ivoire patients, identified through fecal DNA metabarcoding
Authors: Venkatesan Abhinaya , Chen Rebecca , Baer Max , Schneeberger Pierre H. H. , Reimer Brenna , Hürlimann Eveline , Coulibaly Jean T , Ali Said M , Sayasone Somphou , Soghigian John , Keiser Jennifer , Gilleard John Stuart 
Published: July 2024

AbstractAlbendazole-ivermectin combination therapy is a promising alternative to benzimidazole monotherapy forTrichuris trichiuracontrol. We used fecal DNA metabarcoding to genetically characterizeTrichurispopulations in patients from a clinical trial showing lower albendazole-ivermectin efficacy in Côte d’Ivoire (ERR below 70%) than in Lao PDR and Tanzania (ERR above 98%). ITS-1 and ITS-2 rDNA metabarcoding revealed the entire Côte d’IvoireTrichurispopulation was phylogenetically distinct fromT. trichiurain Lao PDR and Tanzania, and more closely related to the porcine parasiteTrichuris suis. Complete mitogenomes of eight adultTrichurisfrom Côte d’Ivoire confirmed their species-level differentiation. CorrespondingTrichurisITS-1 and ITS-2 sequences in NCBI from individual human patients in Cameroon and Uganda and three captive non-human primates suggest this newly recognized species,T. incognita, is distributed beyond Côte d’Ivoire and has zoonotic potential. Further work is needed to assess the impact of thisTrichurisspecies on soil transmitted helminth control programs.
Hierarchical cortical plasticity in congenital sight impairment
Authors: Maimon-Mor Roni O. , Farahbakhsh Mahtab , Hedger Nicholas , Rider Andrew T. , Anderson Elaine J. , Rees Geraint , Knapen Tomas , Michaelides Michel , Dekker Tessa M. 
Published: July 2024

AbstractA robust learning system balances adaptability to new experiences with stability of its foundational architecture. To investigate how the human brain implements this we used a new approach to study plasticity and stability across hierarchical processing stages in visual cortex. We compare the rod system of individuals born with rod-only photoreceptor inputs (achromatopsia) to the typically developed rod system, allowing us to dissociate impacts of life-long versus transient responses to altered input. Cortical input stages (V1) exhibited high stability, with structural hallmarks of deprivation and no retinotopic reorganisation. However, plasticity manifested as reorganised read-out of these inputs by higher-order cortex, in a pattern that could compensate for the lower resolution of a rod-only system and its lack of high-density foveal input. We propose that these hierarchical dynamics robustly optimize processing of available input and could reflect a broader principle of brain organisation with important implications for emerging sight-recue therapies.
The complete mitogenome of an unidentifiedOikopleuraspecies
Authors: Wibisana Johannes Nicolaus , Plessy Charles , Dierckxsens Nicolas , Masunaga Aki , Miao Jiashun , Luscombe Nicholas M. 
Published: July 2024

1.ABSTRACTAppendicularians are planktonic tunicates abundant all over the world. Currently, only two complete annotated mitochondrial genome assemblies are available for appendicularians, both for cryptic species ofOikopleura dioica. This underrepresentation of available appendicularian mitochondrial genomes limits environmental DNA sequencing (eDNA) studies that rely on mitochondrial markers as a taxonomic barcode. We report the complete mitochondrial genome assembly and annotation of an unknown appendicularian species isolated from the Amami Oshima island, Kagoshima prefecture, Japan, that has significant sequence difference with other currently available assemblies and will serve as a useful resource for ecological studies and further mitochondrial studies of appendicularians.
Is Australia ready for the rollout of amyloid-targeting therapies for Alzheimer’s disease? Results from a national survey characterising current infrastructure capability, workforce and training needs of memory and cognition clinics
Authors: Michaelian Johannes C. , Rowe Christopher C. , Kurrle Susan E. , Pond Constance Dimity , Woodward Michael , Naismith Sharon L. 
Published: July 2024

ABSTRACTBackgroundNew amyloid-targeting monoclonal antibody (mAb) therapies for Alzheimer’s disease (AD) are currently under review by the Therapeutic Goods Administration for use in Australia.AimsTo determine the infrastructure, workforce and training needs of Australian memory and cognition clinics to characterise health system preparedness for amyloid-targeting mAb therapies for AD.MethodsA national, cross-sectional online survey of medical specialists was conducted.ResultsThirty medical specialists (Geriatricians, n=23; Psychiatrists, n=4; Neurologists, n=3) from 30 different clinics participated (public, 76.7%; private, 23.3%), including metropolitan (73.3%), regional (20.0%) and rural (6.7%) areas. On average, clinics reported assessing 5.4 (SD=3.2) new patients per week, of which 2.4 (range: 0-5) were considered to have Mild Cognitive Impairment (MCI). Only 40% of clinics use biomarkers to assess whether patients with MCI have AD, and 55% have intravenous infusion capability. While the majority of clinicians were confident in their knowledge of mAbs, only 33% felt confident in using these. Identified impediments to clinical implementation included a) lack of real-world experience; b) lack of current Models of Care and appropriate use guidelines; c) current clinic set-up; and d) information about safety.ConclusionsAustralia’s health system preparedness for amyloid-targeting mAb therapies will require further investment in infrastructure, equity of access, clinician training and support. Long wait-times already impact access to clinics, and with the forecast rise in MCI and dementia cases, services will need to be expanded; while appropriate models of care and clear and efficient inter-sector health pathways will be needed to prepare for the use of mAbs.
Experience of Service Questionnaire (ESQ) in children and adolescents: factor structure, reliability, validity, item parameters and interpretability of the parent version for practical use in Greece
Authors: Kotsis Konstantinos , Mitropoulou Andromachi , Tzotzi Alexandra , Marchionatti Lauro Estivalete , Hoffmann Mauricio Scopel , Schafer Julia Luiza , Casella Caio B. , Simioni André , Papanikolaou Katerina , Basta Maria , Serdari Aspasia , Koumoula Anastasia , Salum Giovanni Abrahão 
Published: July 2024

AbstractBackgroundHealth systems need tools to assess patient’s experience of service, but existing tools lack reliability and validity assessment. Our aim is to investigate the factor structure, reliability, validity, item parameters and interpretability of the parent version of the Experience of Service Questionnaire (ESQ) for practical use in Greece.MethodsA total of 265 caregivers that were using mental health services in Greece participated in this study as part of the Nationwide cross-sectional survey from the Child and Adolescent Mental Health Initiative (CAMHI). Confirmatory Factor Analysis was used to test factor structure. Reliability of all models were measured with omega coefficients. Tobit regression analysis was used to test for convergent and discriminant validity with specifically designed questions. Item parameters were assessed via Item Response Theory. Interpretability was assessed by means of IRT-based scores.ResultsWe found that ESQ is best represented and scored as a unidimensional construct, given potential subscales would not have enough reliability apart from a general factor. Convergent and discriminant validity was demonstrated, as caregivers who perceived that their child benefited from the received mental health care had 6.50 higher summed scores (SMD=1.14, p<0.001); while those who believed that their child needed additional help had 5.08 lower summed scores on the ESQ (SMD=-0.89, p<0.001). Average z-scores provided five meaningful categories of services, in terms of user satisfaction, compared to the national average.ConclusionsOur study presents evidence for the reliability and validity of the ESQ and provides recommendations for its practical use in Greece. ESQ can be used to measure experience of service and might help drive improvements in service delivery in the Greek mental health sector.
Evaluating the COVID-19 responses of Belgium, Denmark, Germany, the Netherlands, Sweden and the United Kingdom, February-June 2020: A counterfactual modelling study
Authors: de Boer Pieter T. , Miura Fuminari , Lagerweij Giske R. , Wallinga Jacco 
Published: July 2024

AbstractIntroductionDifferences in responses to the COVID-19 pandemic among Northwestern European countries have generated extensive discussion. We explore how the impact of the first pandemic wave might have differed, had Belgium, Denmark, Germany, the Netherlands, Sweden and the United Kingdom adopted responses from the other countries, or had it delayed its own response.MethodsThe time-varying reproduction number Rtfor each country was estimated using time-series of laboratory-confirmed COVID-19 deaths. Counterfactual assessment of the impact of responses was conducted by interchanging the reduction in reproduction number by calendar date between countries from March 13thto July 1st, 2020. The impact of a delayed response was evaluated by lagging the time-series of the reproduction number with one day or three days.ResultsThe cumulative number of COVID-19 deaths for any of the six countries would have differed substantially, had the response of another country been adopted on the respective calendar date. The order, from the lowest to the highest expected mortality rate, was obtained with the responses of the Netherlands, Belgium, Denmark, the United Kingdom, Germany, and Sweden, with a seven- to twelve-fold difference between the lowest and highest outcome. For the Netherlands, delaying its response by three days resulted in a doubling of the cumulative COVID-19 mortality rate.ConclusionDuring the fast-growing first COVID-19 wave, small differences in initial epidemiological situations between countries, together with small differences in the timing and effectiveness of adopting COVID-19 response from neighboring countries, result in large variations in mortality rates.
Risk for hypertension and heart failure linked to high normal serum sodium and tonicity in electronic medical records
Authors: Rabinowitz Jonathan , Darawshi Mahmoud , Burak Nuriel , Boehm Manfred , Dmitrieva Natalia I 
Published: July 2024

AbstractBackground and AimsPopulation aging is fueling an epidemic of age-related chronic diseases. Managing risk factors and lifestyle interventions have proven effective in disease prevention. Epidemiological studies have linked markers of poor hydration with higher risk of chronic diseases and premature mortality. Many individuals do not adhere to recommended hydration levels and could benefit from improved hydration habits. Our study evaluates the use of electronic medical records to confirm the relationship between inadequate hydration and the risk of chronic diseases, which may inform hydration-focused interventions in general healthcare.MethodsWe analyzed 20-year electronic medical records for 411,029 adults from Israel’s Leumit Healthcare Services. Hydration status was assessed using serum sodium and tonicity. We included adults without significant chronic diseases or water balance issues, defined as having normal serum sodium (135-146 mmol/l) and no diagnosis of diabetes. We used Cox proportional hazards models, adjusted for age, to assess the risk of developing hypertension and heart failure.ResultsOur findings showed an increased risk of hypertension with elevated serum sodium levels: a 12% rise for the 140-142 mmol/l group and 30% for levels above 143 mmol/l (HR1.30, 95%CI:1.26-1.34). Tonicity over 287 mosmol/kg was associated with a 19% increased risk of hypertension (HR1.19, 95%CI:1.17-1.22). The risk of heart failure also increased, reaching 20% for sodium levels above 143 mmol/l (HR1.20,95%CI:1.12-1.29) and 16% for tonicity above 289 mosmol/kg (HR1.16, 95%CI: 1.10-1.22). The association between sodium and hypertension was observed across genders, while the risk of heart failure was more pronounced in females. Within the healthy Leumit cohort, 19% had serum sodium levels within the 143-146 mmol/l range, and 39% were in the 140-142 mmol/l range.ConclusionsData analysis from electronic medical records identified a link between serum sodium of 140 mmol/l and above and increased risk of hypertension and heart failure in the general Israeli population. Identifying individuals with high-normal sodium values in healthcare records could guide improvements in hydration habits, potentially leading to better health outcomes.