bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants
Authors: Bauwens Miriam , De Man Vincent , Audo Isabelle , Balikova Irina , Zein Wadih M. , Smirnov Vasily , Held Sebastian , Vermeer Sascha , Loos Elke , Jacob Julie , Casteels Ingele , Désir Julie , Depasse Fanny , Van de Sompele Stijn , Van Heetvelde Mattias , De Bruyne Marieke , Andrieu Camille , Condroyer Christel , Antonio Aline , Hufnagel Robert B. , Carvalho Ana Luísa , Marques João Pedro , Zeitz Christina , De Baere Elfride , Damme Markus 
Published: August 2024

AbstractUsher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod‐cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes. Among the ultra‐rare and recently discovered genes is ARSG, coding for the lysosomal sulfatase Arylsulfatase G. This subtype was assigned as “USH IV” with a late onset of RP and usually late‐onset progressive SNHL without vestibular involvement. Here, we describe nine new subjects and the clinical description of four cases with the USH IV phenotype bearing seven novel and two known pathogenic variants. Functional experiments indicated the complete loss of sulfatase enzymatic activity upon ectopic expression of mutated ARSG cDNA. Interestingly, we identified a homozygous missense variant, p.(Arg99His), previously described in dogs with neuronal ceroid lipofuscinosis. Our study expands the genetic landscape of ARSG‐USH IV and the number of known subjects by more than 30%. These findings highlight that USH IV likely has been underdiagnosed and emphasize the need to test molecularly unresolved subjects with deafblindness syndrome. Finally, testing of ARSG should be considered for the genetic work‐up of apparent isolated inherited retinal diseases.
Preparation and characterisation of pH‐responsive indicator ink for pork freshness monitoring
Authors: Hu Haichuan , Wang Jianqiang , Sun Haolin , Chen Yuheng , Chen Jinghua 
Published: August 2024

AbstractThis study developed an intelligent indicator ink based on purple potato anthocyanin to detect the freshness of pork. The ink was composed of waterborne acrylic resin as a binder, with added additives such as dimethyl silicone oil, sodium polyacrylate and ethanol to improve its performance. Testing was conducted on the initial drying, viscosity, fineness, fluidity and stability of the ink, and all performance criteria met the requirements. Gradient solutions with pH 2–12 were dropped onto the ink to test their discoloration ability, which exhibited significant changes in colour with the difference in pH solutions. The indicator ink was applied to monitor the freshness of pork. After 7 days of storage at 4°C, the total volatile basic nitrogen content of the pork was higher than 25 mg/100 g, and the total number of bacteria was >9 log(CFU/g), indicating that the pork had gone rotten. The colour of the indicator ink shifted from purple to purplish blue and ultimately became deep blue. The results showed that the indicator ink provided an effective colour response in the process of pork deterioration, allowing for visual detection of its freshness.
Eculizumab as Salvage Treatment for Thrombotic Microangiopathy After Lung Transplantation
Authors: Trujillo Hernando , Huerta Ana , Alonso Rodrigo , Serrano Maria Luisa , Aguilar Myriam , Morales Enrique , Cavero Teresa 
Published: August 2024

ABSTRACTBackgroundThrombotic microangiopathy (TMA) is a rare complication after lung transplantation (LT) that has seldom been characterized in detail. Recent evidence has linked TMA other than primary atypical hemolytic uremic syndrome (aHUS) with hyperactivation of the complement alternative pathway. The focus of this investigation was to analyze the treatment response with eculizumab in TMA after LT.MethodsCase series where we have studied 11 patients with TMA after LT from 2 Spanish tertiary healthcare centers. Clinical data and response rates to eculizumab are provided.ResultsThe main indication for lung transplant was chronic obstructive pulmonary disease (COPD) (36%) and most cases (82%) received bilateral LT. The median time to TMA diagnosis was 11.6 months (4.7–28.9) and the TMA trigger in the majority of cases (73%) was immunosuppressive drugs. Platelet and hemoglobin nadir were 58 × 103/µL (24–108) and 7.7 g/dL (7.1–7.9), respectively. All cases presented acute kidney injury (AKI) with a median creatinine of 4 mg/dL (3.2–4.8) and 54.5% required acute dialysis. Eculizumab was started after a median time of 8 days (6–14) with a median duration of 3 weeks (2–8). Complete TMA response was observed in 7 (63.6%) cases and hematologic response in 10 (90.9%). The time to hematologic and renal response was 23 days (13–29) and 28 days (14–46), respectively.ConclusionsTMA after LT is infrequent but potentially devastating. Our findings suggest that short cycles of eculizumab may be effective for severe TMA after LT.
Patterns of pharmacogenetic variation in nine biogeographic groups
Authors: Hernandez Sophia , Hindorff Lucia A. , Morales Joannella , Ramos Erin M. , Manolio Teri A. 
Published: August 2024

AbstractFrequencies of pharmacogenetic (PGx) variants are known to differ substantially across populations but much of the available PGx literature focuses on one or a few population groups, often defined in nonstandardized ways, or on a specific gene or variant. Guidelines produced by the Clinical Pharmacogenetic Implementation Consortium (CPIC) provide consistent methods of literature extraction, curation, and reporting, including comprehensive curation of allele frequency data across nine defined “biogeographic groups” from the PGx literature. We extracted data from 23 CPIC guidelines encompassing 19 genes to compare the sizes of the populations from each group and allele frequencies of altered function alleles across groups. The European group was the largest in the curated literature for 16 of the 19 genes, while the American and Oceanian groups were the smallest. Nearly 200 alleles were detected in nonreference groups that were not reported in the largest (reference) group. The genes CYP2B6 and CYP2C9 were more likely to have higher frequencies of altered function alleles in nonreference groups compared to the reference group, while the genes CYP4F2, DPYD, SLCO1B1, and UGT1A1 were less likely to have higher frequencies in nonreference groups. PGx allele frequencies and function differ substantially across nine biogeographic groups, all but two of which are underrepresented in available PGx data. Awareness of these differences and increased efforts to characterize the breadth of global PGx variation are needed to ensure that implementation of PGx‐guided drug selection does not further widen existing health disparities among populations currently underrepresented in PGx data.
Identificação de ingredientes de intervenções não invasivas para crianças deambuladoras com paralisia cerebral usando as minhas palavras favoritas: uma revisão de escopo
Authors: Leite Hércules Ribeiro , de Sousa Junior Ricardo Rodrigues , Souto Deisiane Oliveira , Medeiros e Silva Jaíza Marques , de Lima Arthur Felipe Barroso , de Miranda Drumond Carolyne , Policiano Eliane Beatriz Cunha , Marques Ariane Cristina , de Carvalho Chagas Paula Silva , Longo Egmar 
Published: August 2024

ResumoObjetivoMapear os ingredientes das intervenções não invasivas fornecidas às crianças deambuladoras com Paralisia Cerebral (PC).MétodoOs artigos foram selecionados e as características dos estudos extraídas. Os ingredientes das intervenções foram descritos em termos do Sistema de Especificação de Taxonomia de Reabilitação (RTSS) e vinculados às minhas palavras favoritas. Os resultados foram interpretados e validados por meio da abordagem de Envolvimento de pacientes e do Publico em Pesquisa (EPP).ResultadosSessenta e um artigos foram incluídos, dos quais 55,5% foram classificados como ensaios clínicos randomizados. Os estudos selecionados incluíram um total de 2187 crianças (a idade média variou de 3 meses a 5,9 anos), a maioria de países desenvolvidos. Os estudos incluídos investigaram um total de 27 intervenções, que juntas apresentaram ingredientes representando todas as minhas palavras favoritas, na seguinte ordem de frequência: “Saúde” (ex., treinamento de força e resistência), “Funcionalidade” (ex., prática ativa e repetitiva de uma tarefa), “Família” (ex., terapia focada no contexto), “Diversão” (ex., inclusão de atividades amistosas para crianças), “Amigos” (ex., atividades em grupo) e “Futuro” (ex., compartilhamento de informações didáticas). Assim, os ingredientes relacionados à palavra “Futuro” foram os relatados com menos frequência.InterpretaçãoTerapeutas e famílias precisam estar cientes da correspondência mais apropriada entre as metas elencadas por meio das minhas palavras favoritas e os objetivos, ingredientes e alvos das intervenções. Finalmente, “Diversão”, “Amigos” e “Futuro” devem ser abordadas como desfechos potenciais em estudos futuros.
Genetic investigations in cerebral palsy
Authors: Basu Anna P. , Low Karen , Ratnaike Thiloka , Rowitch David 
Published: August 2024

AbstractThe original description of cerebral palsy (CP) contained case histories suggesting that perinatal environmental stressors resulted in brain injury and neurodevelopmental disability. While there are clear associations between environmental impact on brain development and CP, recent studies indicate an 11% to 40% incidence of monogenic conditions in patients given a diagnosis of CP. A genetic diagnosis supports the delivery of personalized medicine. In this review, we describe how the Wnt pathway exemplifies our understanding of pathophysiology related to a gene variant (CTNNB1) found in some children diagnosed with CP. We cover studies undertaken to establish the baseline prevalence of monogenic conditions in populations attending CP clinics. We list factors indicating increased likelihood of a genomic diagnosis; and we highlight the need for a comprehensive, accurate, genotype–phenotype reference data set to aid variant interpretation in CP cohorts. We also consider the wider societal implications of genomic management of CP including significance of the diagnostic label, benefits and pitfalls of a genetic diagnosis, logistics, and cost.
Can parasitoid strains from different hosts and over four generations modify the chemotactic behavior and parasitism of Aphidius platensis?
Authors: Ribeiro dos Santos Carlos Diego , Sant'Ana Josué , Redaelli Luiza Rodrigues , Engel Priscila de Carvalho , Menezes Valentim Taís Tainá de 
Published: August 2024

AbstractAphidius platensis Brèthes (Hymenoptera: Braconidae) is a parasitoid of cereal aphids. Its foraging, recognition, and host acceptance processes may be related to chemical cues inherited from the host during development. This study aimed to evaluate the influence of the maternal host, that is, Rhopalosiphum padi (L.) (Rp), Schizaphis graminum (Rondani) (Sg) (from the Aphidini tribe), Metopolophium dirhodum Walker (Md), and Sitobion avenae (Fabricius) (Hemiptera: Aphididae) (from the Macrosiphini tribe) (all Hemiptera: Aphididae) on parasitism and chemotactic responses of A. platensis. Parasitism by A. platensis was investigated in non‐choice bioassays along four generations, as well as in choice bioassays. Females originating from a S. graminum laboratory colony (SgLab) were reared for four generations on all four aphid species. Chemotaxis experiments were conducted in a four‐armed olfactometer with two A. platensis strains: one originated from SgLab and another after three generations on Rp (RpF4), both exposed to the four aphid species simultaneously. The highest SgLab A. platensis parasitism rates, in both choice and non‐choice tests, were observed on S. graminum, followed by R. padi and S. avenae. No parasitized hosts were found in M. dirhodum. Furthermore, SgLab A. platensis exhibited a stronger attraction to the odors emitted by S. graminum. However, after the third generation on R. padi (RpF4), A. platensis behavior altered, displaying a preference for R. padi over S. graminum, both in terms of parasitism and chemotactic responses. In conclusion, A. platensis showed a preference for hosts within the Aphidini tribe, indicating innate affinities. Nevertheless, its preference can be modified within this tribe based on the chemical cues inherited from the host during development.
Fall armyworm females choose host plants that are detrimental to their offspring's performance but young larvae amend their mother's choices
Authors: Ortiz‐Carreón Fabián R. , Bernal Julio S. , Rojas Julio C. , Cruz‐López Leopoldo , Kolomiets Michael V. , Malo Edi A. 
Published: August 2024

AbstractFall armyworm (FAW), Spodoptera frugiperda (J.E. Smith) (Lepidoptera: Noctuidae), has a long association with maize (Zea mays mays L., Poaceae) and is among the crop's most significant pests worldwide. We contrasted the preference for and performance of FAW on three maize cultivars: the Mexican landrace Tuxpeño, the USA inbred B73 and B73‐lox10; B73‐lox10 is deficient in production of jasmonic acid (JA), green leaf volatiles (GLVs) and herbivore‐induced plant volatiles (HIPVs). Female oviposition and neonate colonization preferences were assessed in triple‐choice tests in greenhouse settings. Performance was assessed on the bases of larval, pupal and adult weights, larval and pupal development times, and adult longevity. We expected females to preferentially oviposit on plants on which their offspring performed best, and neonates to randomly colonize plants because they disperse aerially, presumably oriented solely by wind currents. Females preferred to oviposit on Tuxpeño plants, followed by B73‐lox10 and B73 plants, whereas their offspring performed best on B73‐lox10 and poorest on Tuxpeño. In contrast, neonates preferentially colonized plants on which they performed best, B73‐lox10, though initially and transiently they colonized plants on which they performed poorly, B73 and Tuxpeño. Altogether, our results showed that FAW females preferred to oviposit on maize plants on which their offspring's performance was poorest (Tuxpeño), and neonates preferentially colonized plants on which their own performance was best (B73‐lox10), though they initially colonized plants that were detrimental to their performance (Tuxpeño, B73). These results suggested that the ovipositional choices of FAW mothers are uncoupled from their offspring's performance, but newborn offspring rectified their mother's sub‐optimal host plant choice by colonizing plants that enhanced their own performance. Notably, these results also suggested that aerially dispersing (ballooning) FAW larvae do not colonize plants randomly, and that plant volatiles (GLVs, HIPVs) and JA may be relevant to host plant selection by ballooning larvae.
Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale
Authors: van Kooten Harmke A. , Horton Mike C. , Wenninger Stephan , Babačić Haris , Schoser Benedikt , Lefeuvre Claire , Taouagh Najib , Laforêt Pascal , Segovia Sonia , Díaz‐Manera Jordi , Claeys Kristl G. , Mongini Tiziana , Musumeci Olimpia , Toscano Antonio , Hundsberger Thomas , Brusse Esther , van Doorn Pieter A. , van der Ploeg Ans T. , van der Beek Nadine A. M. E. ,   European Pompe Consortium study group on outcome measures
Published: August 2024

AbstractBackground and purposeThe Rasch‐Built Pompe‐Specific Activity (R‐PAct) scale is a patient‐reported outcome measure specifically designed to quantify the effects of Pompe disease on daily life activities, developed for use in Dutch‐ and English‐speaking countries. This study aimed to validate the R‐PAct for use in other countries.MethodsFour other language versions (German, French, Italian, and Spanish) of the R‐PAct were created and distributed among Pompe patients (≥16 years old) in Germany, France, Spain, Italy, and Switzerland and pooled with data of newly diagnosed patients from Australia, Belgium, Canada, the Netherlands, New Zealand, the USA, and the UK and the original validation cohort (n = 186). The psychometric properties of the scale were assessed by exploratory factor analysis and Rasch analysis.ResultsData for 520 patients were eligible for analysis. Exploratory factor analysis suggested that the items separated into two domains: Activities of Daily Living and Mobility. Both domains independently displayed adequate Rasch model measurement properties, following the removal of one item ("Are you able to practice a sport?") from the Mobility domain, and can be added together to form a "higher order" factor as well. Differential item functioning (DIF)‐by‐language assessment indicated DIF for several items; however, the impact of accounting for DIF was negligible. We recalibrated the nomogram (raw score interval‐level transformation) for the updated 17‐item R‐PAct scale. The minimal detectable change value was 13.85 for the overall R‐PAct.ConclusionsAfter removing one item, the modified‐R‐PAct scale is a valid disease‐specific patient‐reported outcome measure for patients with Pompe disease across multiple countries.
“Of All Nations … ”: For the Catholicity of the Churches
Authors: Parmentier Elisabeth 
Published: August 2024

AbstractIn November 2023, the Groupe des Dombes, a Francophone ecumenical group, published its new study “De toutes les nations … ”: Pour la catholicité des Églises (“Of All Nations … ” For the Catholicity of the Churches). Its central affirmation, following a common reading of history, and as a result of the biblical exploration that group has undertaken together, is that “it is possible to affirm that the Catholic Church and the Churches of the Reformation form One Church, although in imperfect communion.” This article recalls the history of the Groupe des Dombes, as a group gathering equal numbers of Roman Catholic and Protestant members, and sets out the main elements of the new study on catholicity. It concludes by discussing the central affirmation and returns to the calls for conversion, so important to the Groupe des Dombes, as a way to live together according to the gift of God: “For beyond themselves, the Churches have the common mission of bearing witness to the unity of humanity. The lived catholicity of the Church can be a sign of this.”
Anti‐Racism and the Fight against Discrimination Today
Authors: Pillay Jerry , Gunda Masiiwa Ragies 
Published: August 2024

AbstractThis article explores the efforts of the World Council of Churches (WCC) in combating racism and discrimination, emphasizing the importance of anti‐racism rather than non‐racism. The article underlines the intersection of racism with climate change and economic inequality, including its compounded impact on marginalized groups. It highlights an epistemology that gave primacy to Western knowledge and ways of knowing and that became a fundamental tool in making enslavement and colonization acceptable to enslaving and colonizing empires. The article outlines the WCC's commitment to anti‐racism – which includes awareness campaigns, capacity building, and global advocacy against systemic racism – and underlines the WCC's role in fostering justice and reconciliation within diverse communities.
Weeping without tears: Kurdish female kolbers and gendered necropolitics of state in Iran
Authors: Mohammadpour Ahmad , Javaheri Aso 
Published: August 2024

AbstractThis article disentangles the nexus between coloniality, territoriality, and gendered necropolitics of state in Iran and how it shapes the lives of the Kurdish female cross‐border laborers (kolbers, in Kurdish) in Eastern Kurdistan (Rojhelat, in Kurdish). Drawing on Achille Mbembe's notion of “necropolitics,” we conceptualize kolberi as a work of death that subjects Kurds to indiscriminate and collective punishment through necro‐disciplinary measures, exposing them constantly to precarious conditions. The necropolitics of Kurdish female kolberi underlines how the meaning of death, like the meaning of life (in biopolitics), is produced and managed through elements of embodiment―bodies, of who kills, and of who is marked for death and for taking life. We interviewed 13 Kurdish women in Rojhelat who have been involved in kolberi over the last few years. By bringing the gendered dimension of kolberi to the forefront, our article theorizes the experiences of women kolbers as occurring in a “death world”―a world where female kolbers' lives are perpetually endangered by the state apparatus of death and silenced by the patriarchal regime of “truth.” Our analysis reveals a form of state violence that highlights the gendered expression of “colonized subjects.”
Increased incidence of diabetes in people living with HIV treated with first‐line integrase strand transfer inhibitors: A French multicentre retrospective study
Authors: Ursenbach Axel , Sireyjol Antoine , Delpierre Cyrille , Duvivier Claudine , Hocqueloux Laurent , Rey David ,   the Dat'AIDS Study Group
Published: August 2024

AbstractIntroductionPrevention of cardiovascular disease is a major issue in the current management of people living with HIV. Concern is growing about the metabolic impact of integrase strand transfer inhibitors (INSTIs), which could lead to an increased risk of diabetes, but the data are conflicting. This is an updated version of our previous analysis, with longer follow‐up and new molecules.MethodsWe retrospectively evaluated the incidence of new‐onset diabetes in people living with HIV starting combined antiretroviral therapy with an INSTI compared with non‐nucleoside reverse transcriptase inhibitors and protease inhibitors. Data were collected from the Dat'AIDS cohort study, a collaboration of 30 HIV treatment centres in France. We used a propensity score‐based inverse probability of treatment weighting approach to adjust for baseline characteristics between the two groups (INSTI and non‐INSTI).ResultsBetween 2009 and 2021, a total of 12 150 people living with HIV were included. The incidence of diabetes was higher in the INSTI group than in the non‐INSTI group (hazard ratio 1.38; 95% confidence interval 1.07–1.77; p = 0.012). Regardless of the third drug, but to a greater extent for INSTIs, we observed a peak of new‐onset diabetes in the year following initiation of combined antiretroviral therapy.ConclusionsThe incidence of diabetes was higher in people treated with integrase inhibitors than in those receiving other third agents. This increased risk occurred both during the first year of treatment and in the longer term.