bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies
Authors: Papapetropoulos Spyros , Gelfand Jeffrey M. , Konno Takuya , Ikeuchi Takeshi , Pontius Angela , Meier Andreas , Foroutan Farid , Wszolek Zbigniew K. 
Published: March 2024

IntroductionBecause adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressive, debilitating, and ultimately fatal neurodegenerative disease, a rapid and accurate diagnosis is critical. This analysis examined the frequency of initial misdiagnosis of ALSP via comprehensive review of peer-reviewed published cases.MethodsData were extracted from a MEDLINE search via PubMed (January 1, 1980, through March 22, 2022) from eligible published case reports/series for patients with an ALSP diagnosis that had been confirmed by testing for the colony-stimulating factor-1 receptor gene (CSF1R) mutation. Patient demographics, clinical symptoms, brain imaging, and initial diagnosis data were summarized descriptively. Categorical data for patient demographics, symptoms, and brain imaging were stratified by initial diagnosis category to test for differences in initial diagnosis based on each variable.ResultsData were extracted from a cohort of 291 patients with ALSP from 93 published case reports and case series. Mean (standard deviation) age of symptom onset was 43.2 (11.6) years. A family history of ALSP was observed in 59.1% of patients. Cognitive impairment (47.1%) and behavioral and psychiatric abnormalities (26.8%) were the most frequently reported initial symptoms. Of 291 total cases, an accurate initial diagnosis of ALSP was made in 72 cases (24.7%) and the most frequent initial misdiagnosis categories were frontotemporal dementia (28 [9.6%]) and multiple sclerosis (21 [7.2%]). Of the 219 cases (75.3%) that were initially mis- or undiagnosed, 206 cases (94.1%) were later confirmed as ALSP by immunohistology, imaging, and/or genetic testing; for the remaining 13 cases, no final diagnosis was reported. Initial diagnosis category varied based on age, family history, geographic region, mode of inheritance, and presenting symptoms of pyramidal or extrapyramidal motor dysfunction, behavioral and psychiatric abnormalities, cognitive impairment, and speech difficulty. Brain imaging abnormalities were common, and initial diagnosis category was significantly associated with white matter hyperintensities, white matter calcifications, and ventricular enlargement.DiscussionIn this literature analysis, ALSP was frequently misdiagnosed. Improving awareness of this condition and distinguishing it from other conditions with overlapping presenting symptoms is important for timely management of a rapidly progressive disease such as ALSP.
Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip
Authors: Gan Pamela , Hajis Muhammad Irfan Bin , Yumna Mazaya , Haruman Jessline , Matoha Husnul Khotimah , Wahyudi Dian Tri , Silalahi Santha , Oktariani Dwi Rizky , Dela Fitria , Annisa Tazkia , Pitaloka Tessalonika Damaris Ayu , Adhiwijaya Priscilla Klaresza , Pauzi Rizqi Yanuar , Hertanto Robby , Kumaheri Meutia Ayuputeri , Sani Levana , Irwanto Astrid , Pradipta Ariel , Chomchopbun Kamonlawan , Gonzalez-Porta Mar 
Published: March 2024

Background: Microarrays are a well-established and widely adopted technology capable of interrogating hundreds of thousands of loci across the human genome. Combined with imputation to cover common variants not included in the chip design, they offer a cost-effective solution for large-scale genetic studies. Beyond research applications, this technology can be applied for testing pharmacogenomics, nutrigenetics, and complex disease risk prediction. However, establishing clinical reporting workflows requires a thorough evaluation of the assay’s performance, which is achieved through validation studies. In this study, we performed pre-clinical validation of a genetic testing workflow based on the Illumina Global Screening Array for 25 pharmacogenomic-related genes.Methods: To evaluate the accuracy of our workflow, we conducted multiple pre-clinical validation studies. Here, we present the results of accuracy and precision assessments, involving a total of 73 cell lines. These assessments encompass reference materials from the Genome-In-A-Bottle (GIAB), the Genetic Testing Reference Material Coordination Program (GeT-RM) projects, as well as additional samples from the 1000 Genomes project (1KGP). We conducted an accuracy assessment of genotype calls for target loci in each indication against established truth sets.Results: In our per-sample analysis, we observed a mean analytical sensitivity of 99.39% and specificity 99.98%. We further assessed the accuracy of star-allele calls by relying on established diplotypes in the GeT-RM catalogue or calls made based on 1KGP genotyping. On average, we detected a diplotype concordance rate of 96.47% across 14 pharmacogenomic-related genes with star allele-calls. Lastly, we evaluated the reproducibility of our findings across replicates and observed 99.48% diplotype and 100% phenotype inter-run concordance.Conclusion: Our comprehensive validation study demonstrates the robustness and reliability of the developed workflow, supporting its readiness for further development for applied testing.
COVID-19 restrictions promoted the newly occurring loneliness in older people – a prospective study in a memory clinic population
Authors: Defrancesco Michaela , Schurr Timo A. , Hofer Alex 
Published: March 2024

IntroductionA high burden and many negative outcomes for older people were associated with the COVID-19 pandemic. Social isolation and loneliness are prevalent health problems impacting well-being and quality of life and may have increased due to pandemic-related restrictions. Methods: This study investigate the influence of the COVID-19 pandemic on loneliness in people visiting a mem40ory clinic between March 2020 and September 2022. We conducted a prospective, single-center, questionnaire-based observational follow-up study to assess potential predictors of newly occurring, pandemic-related loneliness. Next to a newly developed COVID-19 questionnaire, a comprehensive neuropsychological test battery, the Neuropsychiatric Inventory and the Geriatric Depression Scale were used.ResultsIn total 426 people (mean age: 76.48 years, 12.9% cognitively intact, 33.1% diagnosed with Mild Cognitive Impairment, 49.8% diagnosed with dementia, and 4.2% diagnosed with depression) completed the COVID-19 questionnaire at baseline and 166 at follow-up. Newly occurring loneliness was indicated by 22.3% of baseline participants and by 24.1% of follow-up participants. Results of logistic regression analysis showed that living alone (OR 5.452) and having less contact with friends (OR 2.771) were most predictive of the occurrence of loneliness. The use of digital communication media as an alternative strategy for social interaction was lowest in dementia patients (6-13%).DiscussionIn conclusion, personal contacts and a close friendship network appear to be more decisive to prevent loneliness in older people than does the use of digital communication media. However, promoting an intensified use of digital communication media may be useful to counteract loneliness, especially in dementia patients.
A real-time biphasic Kalman filter-based model for estimating human core temperature from heart rate measurements for application in the occupational field
Authors: Falcone Tiziana , Del Ferraro Simona , Molinaro Vincenzo , Zollo Loredana , Lenzuni Paolo 
Published: March 2024

IntroductionEarly identification of hypothermia or hyperthermia is of vital importance, and real-time monitoring of core temperature (CT) of the workers exposed to thermal environments is an extremely valuable tool. From the existing literature studies, the model developed by Buller et al. in their study of 2013 that generates real-time estimates of CT from heart rate (HR) measurements using the Kalman filter (KF) shows good potential for occupational application. However, some aspects could be improved to reliably handle the existing very wide range of workers and work activities. This study presents a real-time CT estimation model, called the Biphasic Kalman filter-based (BKFB) model, based on HR measurement, with characteristics suited to application in the occupational field.MethodsThirteen healthy subjects (six female and seven male) were included in the study to perform three consecutive tasks simulating work activities. During each test, an ingestible CT sensor was used to measure CT and a HR sensor to measure HR. The KF methodology was used to develop the BKFB model.ResultsAn algorithm with a biphasic structure was developed using two different models for the increasing and decreasing phases of CT, with the ability to switch between the two based on an HR threshold. CT estimates were compared with CT measurements, and with respect to overall root mean square error (RMSE), the BKFB model achieved a sizeable reduction (0.28 ± 0.12°C) compared to the Buller et al. model (0.34 ± 0.16°C).DiscussionThe BKFB model introduced some modifications over the Buller et al. model for a more effective application in the occupational field. It was developed using data collected from a sample of workers (heavily weighted toward middle-aged, not very fit, and with a considerable fraction of female workers), and it also included two different modeling of CT (for the up- and down-phases), which allowed for better behavioral modeling in the two different stages. The BKFB model provides CT estimates reasonably in comparison to the measured intra-abdominal temperature values in both the activity and recovery phases but is more practical and easier to use for a real-time monitoring system of the workers' thermal states.
Pre-pregnancy body mass index, gestational diabetes mellitus, and gestational weight gain: individual and combined effects on fetal growth
Authors: Lyu Yanyu , Cui Mingming , Zhang Lingling , Zheng Guang , Zuo Hanxiao , Xiu Qingyong , Shah Prakesh S. 
Published: March 2024

BackgroundPre-pregnancy body mass index (BMI), gestational diabetes mellitus (GDM), and gestational weight gain (GWG) are interlinked and may play a complex role in fetal growth. We aimed to examine the relationship between pre-pregnancy BMI, GDM, GWG, and fetal growth outcomes and explore the contribution of GDM and GWG to the relationship between Pre-pregnancy obesity/overweight and large-for-gestational-age (LGA) in a prospective cohort.MethodsWe prospectively recruited women in the first trimester and having one-step GDM screened with a 75-g oral glucose tolerance test between 24 and 28 weeks of gestation (n = 802). Outcomes included LGA, small-for-gestational-age (SGA), and preterm birth. To assess the individual and cumulative associations between pre-pregnancy BMI, GDM, GWG, and these outcomes, we used multivariate logistic regression analysis. Furthermore, we employed structural equation modeling (SEM) to investigate the mediating role of GDM and excessive GWG in the correlation between pre-pregnancy overweight/obesity and LGA.ResultsPre-pregnancy obesity, GDM, and excessive GWG were all independently associated with increased odds of LGA. Inadequate GWG was associated with higher odds of preterm birth. Compared with women unexposed to pre-pregnancy overweight/obesity, GDM, or excessive GWG, women exposed any two conditions had higher odds for LGA (AOR 3.18, 95% CI 1.25–8.11) and women with coexistence of all had the highest odds for LGA (AOR 8.09, 95% CI 2.18–29.97). The mediation analysis showed that GDM explained 18.60% (p &lt; 0.05) of the total effect of pre-pregnancy overweight/obesity on LGA, and GWG explained 17.44% (p &lt; 0.05) of the total effect.ConclusionPre-pregnancy obesity/overweight, GDM, and excessive GWG are associated with higher odds of fetal growth disturbances as individual factors and when they co-exist. The effect of pre-pregnancy overweight/obesity on LGA is partially achieved through GDM and excessive GWG.
Calidad de vida del adulto mayor en una comunidad rural del Estado de México
Authors: Villalobos Monroy Guadalupe , Franco Alejandré Diana , Gaspar del Angel Blanca Lilia 
Published: March 2024

El presente artículo tiene como objetivo comprender los motivos y consecuencias del envejecimiento de la población y cómo es su calidad de vida, centrando la atención en una comunidad rural del Estado de México. Se trata de un estudio descriptivo; la muestra fue de 104 adultos mayores de una comunidad rural de San Antonio la Isla, Estado de México, y se aplicó el instrumento World Health Organization Quality of Life-Old, de la OMS.
Resultados. En cuanto al perfil sociodemográfico, el 59.61% de los AM no cuentan con estudios de nivel básico y 12.5% de los AM presentaron enfermedades crónico-degenerativas. El 28.84 señaló que le afecta bastante en la vida diaria la alteración de uno o varios de sus sentidos.
Oxidative stress as markers in identification of aluminum-tolerant peach tree rootstock cultivars and clonal selections
Authors: Aguilar Marcos Vinícius Miranda , Wertonge Gerâne Silva , Birck Thalía Preussler , Lovato Luana da Rosa , Rosa Flaiane Catarine Rosa da , Hindersmann Jacson , Mayer Newton Alex , Moura-Bueno Jean Michel , Brunetto Gustavo , Tabaldi Luciane Almeri 
Published: March 2024

ABSTRACT

Peach rootstock and scion cultivars are selected in breeding programs considering resistance to pests and diseases, salt tolerance, drought tolerance, and vigor. However, rootstock tolerance to aluminum (Al), which is markedly present in tropical and subtropical soils of the world, is not considered. Thus, it is essential to define potential markers that can contribute to the selection of Al-resistant or Al-tolerant peach rootstocks. The objective of this study was to identify Al-tolerant peach tree rootstock cultivars and clonal selections using physiological and oxidative stress variables. A completely randomized experimental design was used in a 13 (rootstock cultivars and clonal selections) × 2 (with and without Al) factorial arrangement, with three replications. Nursery peach trees of own-rooted ‘BRS Mandinho’ (without rootstock) and nursery trees of ‘BRS Mandinho’ grafted on different rootstock cultivars and clonal selections were grown in a hydroponic system, consisting of two treatments, with and without 100 mg L
-1
of Al. Dry biomass, photosynthetic variables, pigment concentration, hydrogen peroxide content, membrane lipid peroxidation, and activity of the antioxidant enzymes were evaluated. The total dry matter production of the own-rooted ‘BRS Mandinho’ trees and the SS-CHI-09-39 and SS-CHI-09-40 selections is affected by the Al presence, representing a decline of 35.4, 37.2, and 24.4 %, respectively, compared to the treatment with Al. The highest total dry matter production in Al presence was observed for the ‘Sharpe’ rootstock. ‘Capdeboscq’, DB-SEN-09-23, FB-ESM-09-43, JB-ESM-09-13, JAH-MAC-09-77, SAS-SAU-09-71, and VEH-GRA-09-55 rootstock selections are tolerant to Al. The use of physiological and biochemical variables shows potential for the selection of clonal rootstocks tolerant or resistant to Al.
Effectiveness of Feedback with Mobile Devices for Quality Measure of CPR Training: A Systematic Review
Authors: Vitasari Imaniar , Awaludin Sidik , Pratama Koernia Nanda 
Published: March 2024

Cardiopulmonary resuscitation (CPR) is a life-saving skill that can significantly increase survival rates in an emergency. Medical professionals, health students, and trained lay people must all perform high-quality CPR. As an outcome, effective CPR training using instruments that support the achievement of high-quality CPR is essential. Objective: This systematic review aimed to evaluate the effectiveness of feedback provided via mobile devices in measuring the quality of CPR training. Method: Design used systematic review with reference to the PRISMA Statement Guidelines 2020. Search results through database of ScienceDirect (778 articles), Wiley Online Library (765 articles), PubMed (55 articles), and ResearchGate (73 articles). The research designs of articles analyzed was randomized controlled trial which published from 2013 to 2023 with the keywords cardiopulmonary resuscitation, CPR training, mobile devices. The sample in this study was taken from five articles that match the inclusion criteria. JBI's critical assessment tool for assessing bias risk in randomly controlled 2023 checklist tests is used to critically evaluate the instruments used for the selected article. Results: The primary results that five publications were based on CPR quality metrics such as chest compression depth and speed, as well as the proportion of acceptable chest compression depth. Conclusions: This review discovered evidence that mobile devices have an effect on the effectiveness of real-time feedback on CPR quality in CPR training. CPR trainees received effective instant guidance from a variety of mobile devices, including smartphones and smart watches equipped with sensors.
Une résistible ascension de l’AfD ? L’ancrage électoral et politique de l’AfD
Authors: Vaillant Jérôme 
Published: March 2024

La progression dans les sondages du parti d’extrême droite Alternative pour l’Allemagne (AfD) inquiète non seulement en Allemagne mais en Europe et dans le monde en raison du passé national-socialiste du pays. Pour évaluer la place de l’AfD dans le paysage politique allemand et l’importance de cette progression qui s’inscrit dans une tendance observable en Europe, il est nécessaire de les mettre en relation avec les résultats connus d’élections régionales échues. Quels sont par ailleurs les électeurs de l’AfD et serait-il opportun d’envisager l’interdiction de ce parti mis sous observation par l’Office de protection de la constitution pour son extrémisme ? Il convient également de prendre en compte la progression des manifestations hostiles à l’AfD et pour la défense de la démocratie, qui ont contribué à son recul dans les sondages.
L’AfD, juste un parti de droite comme beaucoup d’autres ?
Authors: Virchow Fabian , Pellissier Béatrice 
Published: March 2024

Depuis sa création en 2013, l’AfD n’a pas seulement connu une ascension fulgurante, mais s’est également transformée d’un parti conservateur et national-libéral en une organisation d’extrême droite, au sein de laquelle des fantasmes de renversement ont également vu le jour. Le courant minoritaire völkisch-nationaliste d’origine, appelé Der Flügel , bien qu’il ne soit plus actif sous cette appellation, détermine des évolutions centrales au sein du parti. Le nombre et l’intensité de la collaboration avec des groupes anticonstitutionnels comme le mouvement identitaire augmentent, contrairement à ce qui a été décidé au sein du parti. Les services de renseignement intérieurs considèrent également de plus en plus de secteurs du parti comme anticonstitutionnels. Malgré la radicalisation progressive au cours des dix dernières années, qui a vu le départ de trois présidents de parti, le parti connaît un pic dans les sondages depuis la mi-2023. Au niveau national, il occupe la deuxième place dans les sondages avec environ 22 % ; dans plusieurs Länder de l’Allemagne de l’Est, il est le parti le plus fort avec bien plus de 30 % des intentions de vote exprimées. À la lumière de cette évolution, de plus en plus de voix s’élèvent pour demander l’interdiction de l’AfD comme mesure de protection de la démocratie.
Comment mesurer et expliquer la défiance face à la démocratie à l’Est ? Réflexions à partir d’une étude de l’Institut Else Frenkel Brunswik de l’Université de Leipzig
Authors: Goudin-Steinmann Elisa 
Published: March 2024

Une étude réalisée par l’Institut Else Frenkel Brunswik (EFBI) de l’Université de Leipzig vient de paraître sur la crise de la démocratie à l’Est de l’Allemagne le 27 juin 2023. Il s’agit d’une étude réalisée auprès de 3 546 personnes originaires de l’ex RDA sous la direction d’Oliver Decker et d’Elmar Brähler. Cette étude met en évidence une progression des idées d’extrême-droite, du refus des minorités (xénophobie, antisémitisme, social-darwinisme) et de la défiance face à la démocratie non pas en tant qu’idée mais telle qu’elle fonctionne dans la vie quotidienne. Cela montre que les idéologèmes centraux de la société démocratique perdent leur force d’intégration dans cette région de l’Allemagne. Nous essayons de décrire ce phénomène, de le mesurer, et de proposer quelques hypothèses pour l’expliquer.
Mencius Moldbug, le gourou
Authors: Stefanoni Pablo 
Published: March 2024

Allier transhumanisme débridé et gouvernements autoritaires à une organisation sous forme d’États-entreprises ultraconcurrentiels dirigés par des rois-PDG, tout cela grâce à la colonisation de la haute mer comme du cosmos, sans oublier un discours élitiste obsédé par les tests de QI… Ce tableau qui semble halluciné et dystopique est pourtant l’horizon rêvé et l’objectif politique des « néoréactionnaires », qui s’inscrivent dans le sillage d’un informaticien étatsunien d’une cinquantaine d’années, aussi discret qu’influent : Mencius Moldbug. Ou quand la Silicon Valley entend défendre ses intérêts grâce à une dictature entrepreneuriale.
Changer de race ?
Authors: Brun Solène 
Published: March 2024

Tout le monde connaît des changements au cours de son existence. On grandit, on vieillit, on connaît différents statuts professionnels. On peut aussi changer de classe sociale ou de genre. Mais il reste un point aveugle dans ce tableau : la race. Des cas ont récemment défrayé la chronique, en particulier celui de Rachel Dolezal, cette Étatsunienne née de parents blancs qui s’est présentée comme une femme noire durant des années, a été identifiée comme telle, a pris la tête d’une association de défense des droits civiques et a enseigné à l’université la culture africaine-américaine, l’histoire de l’art africaine et africaine-américaine ou encore celle des luttes des femmes noires. Mais est-il véritablement possible de « changer de race » ? Qu’est-ce que les récits de franchissement des frontières raciales, hier comme aujourd’hui, nous apprennent sur la race ?
De quels maux le sensitivity reading est-il le révélateur ?
Authors: Pradier Elsa 
Published: March 2024

Depuis quelques années, le travail de sensitivity reading fait l’objet d’attaques virulentes. On crie à la censure, à la réécriture de l’histoire et au plus grand drame de notre époque, le « politiquement correct ». Or cette expression brandie comme un épouvantail recouvre un grand nombre de pratiques, jusqu’à désigner des démarches aux fondements presque antagoniques – effacement d’un contenu, contextualisation d’un propos, suggestions de corrections, approfondissement d’une réflexion, nuances apportées à une description. Surtout, ce flou autour du sensitivity reading semble masquer l’essentiel : la structure et la composition du monde éditorial hexagonal, qui ne saurait voir les oppressions qu’il contribue à reproduire.
Remettre le sexe sur la table du genre
Authors: Jaunait Alexandre 
Published: March 2024

Avons-nous toujours besoin du sexe ? À l’heure où nombre d’entre nous parlent couramment le langage du genre et du queer, le sexe apparaît désuet, obsolète, inutile. Dès lors, le terme n’apparaît quasiment plus que dans les discours pseudo-féministes de groupes réactionnaires qui s’attellent à renaturaliser le sexe pour mieux disqualifier celles et ceux qui entendent vivre selon le genre qui leur convient, et non selon celui qui leur a été assigné à la naissance. Il apparaît ainsi essentiel, dans une démarche résolument féministe, de ne pas abandonner le sexe à celles et ceux qui entendent en faire une arme dirigée contre l’égalité des droits et la reconnaissance de l’existence de toutes et tous. Plaidoyer pour remettre le sexe sur la table du genre.