bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Athens-Luebeck Questionnaire: a tool to discriminate between subtypes of Persistent Postural Perceptual Dizziness
Authors: Anagnostou Evangelos , Armenis Georgios , Zachou Athena , Storm Renana , Sprenger Andreas , Helmchen Christoph 
Published: February 2025

AbstractIntroductionPersistent Postural-Perceptual Dizziness (PPPD), as an umbrella term for functional dizziness, encompasses a wide range of subjective symptoms affecting visual, vestibular, and motor functions. We developed the Athens-Lübeck Questionnaire (ALQ) as a bedside tool to differentiate specific symptom subtypes, which could inform more targeted research into the pathogenesis of the syndrome and facilitate tailored physiotherapeutic interventions.MethodsA total of 96 patients with primary or secondary PPPD were included in a prospective cross- sectional study conducted at two tertiary referral centers. All participants had unimpaired vestibular function, as verified by video head-impulse testing at the time of examination. Each participant completed the ALQ, an 8-item questionnaire divided into four symptom subtypes: ALQvis (visual intolerance), ALQstand (intolerance to quiet standing or sitting), ALQpass (passive motion intolerance), and ALQact (active motion intolerance). We assessed the reliability of the questionnaire, the prevalence of different symptom subtypes, and the presence of dominant symptom profiles.ResultsThe ALQ demonstrated good internal consistency, with a Cronbach’s alpha of 0.813. Items within the same symptom domain showed strong inter-item correlations. Approximately two-thirds of the participants exhibited a predominant symptom subtype, with the majority classified under the ALQact phenotype.ConclusionThe 8-item ALQ is a valid tool for identifying distinct PPPD symptom subtypes. Its primary strengths lie in its brevity and ease of use in outpatient vertigo clinics, enabling the identification of predominant phenotypes that may be relevant for guiding tailored therapeutic interventions.
Addressing the challenges of estimating the target population in calculation of routine infant immunization coverage in Kenya
Authors: Karanja-Chege Christine , Agweyu Ambrose , Were Fred , van Hensbroek Michael Boele , Ogallo William 
Published: February 2025

AbstractTarget population estimation for immunization coverage calculations through extrapolation of annual births from census data is often inaccurate. This study aimed to evaluate the accuracy of the traditional census extrapolation method in comparison with three alternative approaches: the Cohort-Component Population Projections Method (CCPPM), using the Expanded Program on Immunisation (EPI) numerator as a denominator, and estimates derived from first antenatal care clinic (ANC1) visits.We obtained target population estimates from 1999 - 2023 using all 4 methods with data for ANC1 available only for 2020-2023. We assessed the accuracy of the estimates for 2003 to 2018 by computing the Mean Absolute Error (MAE), Mean Absolute Percentage Error (MAPE) and the Pearson Correlation Coefficient (r), excluding outliers. A sub-analysis for the period 2020-2023 included ANC1 data.The CCPPM method had the largest population estimates while the census-based method had pronounced discontinuities at the census years. The CCPPM method compared to the DTP1 doses was associated with the greatest error magnitude (MAE = 212917.19 and MAPE = 18.18) while the DTP1 doses and census-based methods showed the smallest error (MAE = 44317.16 and MAPE = 3.77). Sub-analysis of target populations for the period 2020-2023 showed similar upward trends except for the census-based method which exhibited a relatively flat and significantly divergent trajectory. Comparison between the ANC1 and DTP1 doses showed the strongest linear correlation (r = 1.00).The results reveal significant inaccuracies in the current target population estimation methods which may have serious implications on immunisation coverage assessments. Immunisation programs should utilise diverse sources of data and triangulate results to approximate the true population. Additionally, there is an urgent need to come up with innovative approaches to estimating the target populations for immunisation.
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
Authors: Berger Moritz , Garcia-Moreno Hector , Ferreira Monica , Hubener-Schmid Jeannette , Schaprian Tamara , Wegner Philipp , Elter Tim , Teichmann Kennet , Santana Magda M , Grobe-Einsler Marcus , Onder Demet , Koyak Berkan , Bernsen Sarah , Pereira de Almeida Luís , Silva Patrick , Ribeiro Joana Afonso , Cunha Inês , Gonzalez-Robles Cristina , Khan Shamsher , Heslegrave Amanda , Zetterberg Henrik , Lima Manuela , Raposo Mafalda , Ferreira Ana F. , Vasconcelos João , van de Warrenburg Bart P. , van Gaalen Judith , van Prooije Teije H. , de Vries Jeroen , Schols Ludger , Riess Olaf , Synofzik Matthis , Timmann Dagmar , Thieme Andreas , Erdlenbruch Friedrich , Infante Jon , Pelayo Ana Lara , Manrique Leire , Reetz Kathrin , Dogan Imis , Oz Gulin , Joers James M. , Bushara Khalaf , Onyike Chiadikaobi , Povazan Michal , Jacobi Heike , Schmahmann Jeremy D , Ratai Eva-Maria , Schmid Matthias , Giunti Paola , Klockgether Thomas , Faber Jennifer 
Published: February 2025

AbstractBackgroundSpinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited adult-onset disease. We aimed to describe longitudinal changes in clinical and biological findings and to identify predictors for clinical progression.MethodsWe used data from participants enrolled in the ESMI cohort collected between Nov 09, 2016 and July 18, 2023. The data freeze included data from 14 sites in five European countries and the United States. We assessed ataxia with the Scale for the Assessment and Rating of Ataxia (SARA). We measured disease-specific mutant ataxin-3 protein (ATXN3) and neurofilament light chain (NfL) in plasma and performed MRIs. Data were analysed by regression modelling on a timescale defined by onset. The onset of abnormality of a marker was defined as the time at which its value, as determined by modelling, exceeded the mean ±2 SD of healthy controls. To study responsiveness of markers, we determined the sensitivity to change ratios (SCSs).ResultsData from 291 SCA3 mutation carriers before and after clinical onset and 121 healthy controls were included. NfL levels became abnormal more than 20 years (-21.5 years [95% CI n.d. –9.5]) before onset. The earliest MRI abnormality was volume loss of medulla oblongata (-4.7 years [95% CI n.d. – 3.3]). The responsiveness of markers depended on the disease stage. Across all stages, pons volume had the highest responsiveness with an SCS of 1.35 [95% CI 1.11 – 1.78] exceeding that of SARA (0.99 [95% CI 0.88 – 1.11]). Lower age (p=0.0459) and lower medulla oblongata volume (p<0.0001) were predictors of SARA progression.ConclusionOur study provides quantitative information on the progression of biological markers in SCA3 mutation carriers before and after onset of ataxia, and allowed the identification of predictors for clinical progression. Our data could prove useful for the design of future clinical trials.
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle withSMN1/SMA
Authors: Stringer Brett W. , Zhang Yougang , Taghipour-Sheshdeh Afsaneh , Goh Shuxiang , Kölbel Heike , Farrar Michelle A , Wirth Brunhilde , Giacomotto Jean 
Published: February 2025

AbstractSpinal muscular atrophy (SMA) results fromSMN1gene loss-of-function (LOF), with disease severity directly linked to the level of remaining SMN protein. Nusinersen, risdiplam and onasemnogene abeparvovec are revolutionary treatments but should ideally be implemented before clinical symptoms appear. Because of this, prenatal and newborn screenings are increasingly used to identify commonSMN1mutations and patients requiring therapy. However, for novel mutations, clinicians lack robust analytic tools to predict pathogenicity before irreversible damage occurs.To address this gap, we deployed a zebrafish model presentingsmn1-LOF, exhibiting progressive motor defects and death by only six days of age. We evaluated twoSMN1-variants (VUS) identified in newborn patients awaiting definite diagnosis and treatment recommendations.We demonstrated that while known pathogenic variants did not change the disease course, wild-typeSMN1and both patient variants rescued SMA hallmarks in zebrafish, demonstrating the relevance of this approach for VUS-testing within a crucial timeframe for patients. Both VUS turned out to be non-pathogenic, and therapeutic costs of >US$2 million per child were avoided.Beyond SMA, this study provides robust proof-of-principle that the zebrafish represents a powerful translational tool for VUS-analysis, and that such approaches should be considered in clinical settings for supporting diagnosis and treatment decisions.
Admixture mapping reveals evidence for multiple mitonuclear incompatibilities in swordtail fish hybrids
Authors: Robles Nemo V. , Moran Ben M. , Rodríguez-Barrera María José , Jofre Gaston I. , Gunn Theresa , Iverson Erik N.K. , Beskid Sofia , Baczenas JJ , Sedghifar Alisa , Andolfatto Peter , Powell Daniel L. , Brandvain Yaniv , Havird Justin C. , Rosenthal Gil G , Schumer Molly 
Published: February 2025

AbstractHow barriers to gene flow arise between closely related species is one of the oldest questions in evolutionary biology. Classic models in evolutionary biology predict that negative epistatic interactions between variants in the genomes of diverged lineages, known as hybrid incompatibilities, will reduce viability or fertility in hybrids. The genetic architecture of these interactions and the evolutionary paths through which they arise have profound implications for the efficacy of hybrid incompatibilities as barriers to gene flow between species. While these questions have been studied using theoretical approaches for several decades, only recently has it become possible to map larger numbers of hybrid incompatibilities empirically. Here, we use admixture mapping in natural hybrid populations of swordtail fish (Xiphophorus) to identify genetic incompatibilities involving interactions between the mitochondrial and nuclear genomes. We find that at least nine regions of the genome are involved in mitonuclear incompatibilities that vary in their genetic architecture, the strength of selection they experience, and the degree to which they limit gene flow in natural hybrid populations. Our results build a deeper understanding of the complex architecture of selection against incompatibilities in naturally hybridizing species and highlight an important role of mitonuclear interactions in the evolution of reproductive barriers between closely related species.
Müllerian mimicry in Neotropical butterflies: One mimicry ring to bring them all, and in the jungle bind them
Authors: Pérochon Eddie , Rosser Neil , Kozak Krzysztof , McMillan W. Owen , Huertas Blanca , Mallet James , Ready Jonathan , Willmott Keith , Elias Marianne , Doré Maël 
Published: February 2025

AbstractUnderstanding the mechanisms underlying species distributions and coexistence is essential to predict and prevent the impacts of global change, particularly in biodiversity hotspots. However, the effects of biotic interactions may be challenging to investigate at large spatial scales. Leveraging well-characterized Müllerian mimetic systems in Neotropical butterflies, we investigated spatial patterns of mutualistic mimetic interactions within and between two tribes of aposematic Nymphalid butterflies: the Heliconiini (Heliconiinae) and the Ithomiini (Danainae). Despite 85 My of independent evolutionary histories, many species share similar warning wing patterns across the Neotropics.In this study we show that both tribes form similar biodiversity hotspots with a high prevalence of rare species and mimetic patterns in the tropical Andes. However, we reveal a higher relative richness of heliconiine butterflies than ithomiines in the Amazon basin contrasting with the Andean concentration of ithomiine diversity. Despite this difference in broadscale diversity patterns, we also document large-scale spatial associations among phenotypically similar species within and between tribes, thereby providing new empirical evidence for Fritz Müller’s historical model of mutualistic mimicry at a continental scale. Furthermore, comparative phylogenetic analyses suggest that co-mimetic species within and between tribes have converged towards similar climatic niches as a response to selection favoring co-occurrence.Our findings illustrate the strength of mutualistic interactions in shaping biodiversity patterns at continental scale and in supporting niche convergence even across millions of years of evolution. Critically, it also emphasizes the pervasive vulnerability of mimetic communities, bound by positive interactions, to disassembly induced by climate change.Significance statementMüllerian mimicry is a remarkable example of convergent evolution driven by natural selection where coexisting prey species converge in their warning signal advertising their defenses to predators. Heliconiine and ithomiine butterflies found throughout Neotropical rainforests were instrumental in Fritz Müller’s historical model, which provided the mechanism for such resemblance. Leveraging decades of fieldwork and museum collections, we show that species with similar color patterns present strikingly similar spatial distributions, regardless of how closely related they are. Such co-occurrence appears reinforced by the evolution of similar climatic requirements among look-alike species. Our findings emphasize the key role of mutualistic interactions in shaping large-scale patterns of biodiversity and supporting convergence in the climatic niches of species spanning across phylogenetically distant clades.
Modelling the willingness to pay for honey: the role of sensory characteristics and EEG neurometrics
Authors: Zaripova Julia , Semenova Daria , Provorova Anna , Kulikova Sofya 
Published: February 2025

AbstractIt is currently unclear which honey attributes are most important for consumers and, more importantly, from an economic perspective, for which of them consumers are willing to pay for. The aim of this study was to examine the role of sensory attributes in consumers’ willingness to pay for honey. The study was performed in two steps. First, we ran a behavioural experiment in which 25 participants were asked to blindly taste and evaluate 21 sensory attributes of 7 different flower honey samples. Based on the obtained data, we conducted a factor analysis and aggregated all sensory attributes into 6 factors, which were used in the second part of the study during a neuromarketing experiment. The neuromarketing experiment involved another 25 respondents who also blindly tasted honey, evaluated its 6 sensory characteristics (corresponding to the 6 above-mentioned factors), as well as their willingness to pay, the perceived quality and taste of the samples. While the respondents were evaluating honey samples, their brain activity was recorded using an electroencephalograph (EEG). Based on the obtained data, the willingness to pay was modeled using a linear regression, which has demonstrated that consumers’ willingness to pay for honey is significantly influenced by the taste of honey, the perceived quality indicated by various sensory characteristics, the male gender, and the brain activity in the frontal areas.
Digging into the general dynamic model: Island ontogeny predicts shifting micro-evolutionary processes in a Mascarene flowering plant radiation
Authors: Mashburn Brock , Linan Alexander G. , Le Péchon Timothée , Sevathian Jean Claude , Olsen Kenneth M. , Edwards Christine E. 
Published: February 2025

AbstractIsland studies have been integral in the development of process-oriented biodiversity models such as the general dynamic model (GDM) of oceanic island biogeography. While empirical tests of the GDM primarily come from phylogeographic studies, tests incorporating comprehensive population-level sampling of island radiations are rare. In this study, we elucidate the evolutionary processes driving the diversification ofHibiscussectionLilibiscusin the Mascarene archipelago using population-level sampling and 2bRAD sequencing. Our goals were to: 1) assess species relationships and resolve taxonomic issues; 2) test patterns of intra- and interspecific genetic differentiation under a model of shifting speciation processes as islands age; and 3) utilize demographic modeling to infer the relative divergence times of populations in the archipelago. We found the Mascarene radiation of sect.Lilibiscusto be monophyletic and confirmed the presence of six morphologically distinct species. Species richness and phylogenetic relationships supported the expectations of the GDM. Namely, we found that morphologically similar populations of the same species on the intermediate-aged island, Mauritius, diverged earlier and showed greater divergence than morphologically disparate species on the youngest Mascarene island, Réunion. These patterns are consistent with the hypothesis that ecological selection may be affecting speciation on the youngest island, drift may be the most important force on the middle-aged island. Although not tested here, given that the oldest island is in a late stage of subsidence, extinction may be the most important evolution force occurring on the oldest island, consistent with the expectation that evolutionary processes occurring across each of these islands may be influenced by ontogenetic stage. We also found evidence that some species in the group may be naturally rare, suggesting that the rarity of species may not only be from recent habitat loss. Our study is the first to use population-level data to test complex predictions of the GDM and demonstrate that the most important evolutionary processes shift depending on island ontogeny.
Metabolic reprogramming in the spinal cord drives the transition to pain chronicity
Authors: Tagne Alex Mabou , Fotio Yannick , Lee Hye-Lim , Jung Kwang-Mook , Katz Jean , Ahmed Faizy , Le Johnny , Bazinet Richard , Jang Cholsoon , Piomelli Daniele 
Published: February 2025

SummaryAcute injuries can progress into painful states that endure long after healing. The mechanism underlying this transition remains unclear, but metabolic adaptations to the bioenergy demands imposed by injury are plausible contributors. Here we show that peripheral injury activates AKT/mTORC1 in afferent segments of the mouse spinal cord, redirecting local core metabolism toward biomass production while simultaneously suppressing autophagy-mediated biomass reclamation. This metabolic shift supports neuroplasticity, but creates a resource bottleneck that depletes critical spinal cord nutrients. Preventing this depletion with a modified diet normalizes biomass generation and autophagy and halts the transition to chronic pain. This effect, observed across multiple pain models, requires activation of the nutrient sensors, sirtuin-1 and AMPK, as well as restoration of autophagy. The findings identify metabolic reprogramming as a key driver of the progression to pain chronicity and point to nutritional and pharmacological interventions that could prevent this progression after surgery or other physical traumas.
No Evidence of Anti-influenza Nucleoprotein Antibodies in Retail Milk from Across Canada (April – July 2024)
Authors: Wallace Hannah L. , Wight Jordan , Rzeszutek Gabriela J. , Jafri Mustafa S. , Baz Mariana , Dowding Barbara , Flamand Louis , Hobman Tom , Jean François , Joy Jeffrey B. , Lang Andrew S. , MacParland Sonya , McCormick Craig , Noyce Ryan , Russell Rodney S. , Sagan Selena M. , Snyman Jumari , Bogoch Isaac I. , Rasmussen Angela L. , Rimoin Anne W. , Kindrachuk Jason 
Published: February 2025

AbstractFollowing reports of HPAI H5N1 infections of dairy cattle in the United States (US) in March 2024, we established a Pan-Canadian Milk network to monitor retail milk in Canada. Milk samples from across Canada that had previously tested negative for influenza A virus (IAV) RNA were tested for the presence of anti-IAV nucleoprotein (NP) antibodies, as an indicator of past infection of dairy cattle. None of the 109 milk samples tested had evidence of anti-IAV NP antibodies. This is consistent with previous findings from our academic group as well as others including federal testing initiatives that have not found any IAV RNA in milk. Although not surprising given that no cases of H5N1 in cattle have been reported in Canada to date, this work further supports that the extensive outbreak in dairy cattle in the US has not extended northward into Canada, and the integrity of the Canadian milk supply remains intact.
Characterisation ofDMPKand MBNL1 expression in cell models of Myotonic Dystrophy: A platform for drug screening
Authors: López-Martínez Andrea , Martín-González Sergio , Torres-Conde Noemi , Alcalá-Manso Nahia , Al-Ani Abdullah , López de Munain Adolfo , Bigot Anne , Mamchaoui Kamel , Nogales-Gadea Gisela , Arechavala-Gomeza Virginia 
Published: February 2025

AbstractMyotonic dystrophy type I (DM1) is caused by CTG repeat expansions in theDMPKgene leading to mRNA toxicity and sequestration of the splicing regulator MBNL1, affecting many tissues. We have developed anin vitroscreening platform based on ddPCR and in-cell western to quantify these mRNAs and proteins and characterised more than 20 cell models to define DM1 biomarkers that could be useful for drug screening. DMPK protein levels were reduced in DM1-immortalised myoblasts and myotubes, but not in fibroblasts, while MBNL1 protein was consistently lower in all DM1 myogenic cultures, whether primary or immortalised. Myogenic differentiation of cultures led to an increase inDMPKmRNA expression, which was translated into increased MBNL1 sequestration in foci. We further corroborated the platform’s ability to assess therapeutic outcomes, evaluating the effect of a DMPK gapmer ASO and one siRNA: while the gapmer increased MBNL1 protein levels, the siRNA had no significant effect on MBNL1 release. Our platform and the in-depth characterisation of some of the most used models would be of use to the DM1 research community.Significance statementMyotonic dystrophy type I (DM1) is a multisystemic disease with a complex pathogenesis and multiple outcome measures for drug assessmentin vitro. In the last years, the increasing number of new potential therapies targeting DM1 in clinical trials has increased the need for robust and rapid evaluation of preclinical candidates, as well as in-depth knowledge of the cell models used. Here, we present a new cell-based platform that enables robust quantification of DMPK and MBNL1 in cell culture for cell model characterisation and drug screening. Indeed, we highlight the differences observed in DMPK and MBNL1 protein quantification in primary fibroblasts and myotubes, immortalised fibroblasts, myoblasts and myotubes. We then, we performed a proof-of-concept drug evaluation of potential therapeutic strategies targeting DMPK, showing the most suitable for targeting theDMPKexpanded transcript.