bluuebunny/crossref_metadata_2025_split huggingface dataset:
Capture‐based targeted sequencing using a T‐cell control in myeloid malignancies and idiopathic cytopenias
Authors: Pietka Grzegorz , De Lord Corinne , Matthias Gwynn , Cheung Betty , Atwal Sangeeta , Furtado Michelle , Cullis Jonathan , Grey‐Davies Liz , Narayanan Srinivasan , McGregor Andrew , Kilner Mari , Bosworth Jenny , McMullin Mary Frances , Coats Thomas , Parcharidou Agapi , Cavenagh Jamie , Byrne Jenny , Iyengar Sunil , Mohammed Kabir , Cross Nicholas , Hubank Mike , Ribeiro Sara , Khorashad Jamshid , Wren Dorte , O'Connor Simon , Taussig David 
Published: March 2024

SummaryWe report on a study of next‐generation sequencing in 257 patients undergoing investigations for cytopenias. We sequenced bone marrow aspirates using a target enrichment panel comprising 82 genes and used T cells from paired blood as a control. One hundred and sixty patients had idiopathic cytopenias, 81 had myeloid malignancies and 16 had lymphoid malignancies or other diagnoses. Forty‐seven of the 160 patients with idiopathic cytopenias had evidence of somatic pathogenic variants consistent with clonal cytopenias. Only 39 genes of the 82 tested were mutated in the 241 patients with either idiopathic cytopenias or myeloid neoplasms. We confirm that T cells can be used as a control to distinguish between germline and somatic variants. The use of paired analysis with a T‐cell control significantly reduced the time molecular scientists spent reporting compared to unpaired analysis. We identified somatic variants of uncertain significance (VUS) in a higher proportion (24%) of patients with myeloid malignancies or clonal cytopenias compared to less than 2% of patients with non‐clonal cytopenias. This suggests that somatic VUS are indicators of a clonal process. Lastly, we show that blood depleted of lymphocytes can be used in place of bone marrow as a source of material for sequencing.
Learning to cope with the reality of endometriosis: A mixed‐methods analysis of psychological therapy in women with endometriosis
Authors: Dowding Charlotte , Mikocka‐Walus Antonina , Skvarc David , O'Shea Melissa , Olive Lisa , Evans Subhadra 
Published: March 2024

AbstractObjectivesDespite the need and uptake of mental health support by women with endometriosis, no research to date has explored their experience of psychological therapy. We aimed to understand the factors that predict engagement in psychological therapy by Australian women with endometriosis and to qualitative explore their experience of psychological support.DesignMixed‐methods design.MethodsA total of 200 women with self‐reported endometriosis were recruited from the community. We explored; (1) the demographic and clinical predictors of engagement in psychological therapy, (2) the psychological approaches that seem most valuable to women in the management of endometriosis and (3) their experience engaging in psychological therapy for endometriosis.ResultsNearly half of women reported to have seen a psychologist within the past year, particularly for pain. Younger age (OR, .94; 95% CI, .886–.993), depressive symptoms (OR, 1.05; 95% CI, 1.002–1.099), and working part time compared to full time (OR, 2.17, 95% CI, 1.012–4.668), increased the likelihood of engaging in psychological therapy. Template thematic analysis identified three themes; (1) endometriosis and pain have multi‐faceted psychological effects, (2) psychological support is sought to adjust and live with endometriosis and (3) there are helpful and unhelpful psychological tools for women with endometriosis.ConclusionsOur findings support the use of psychological therapy in the management of endometriosis, and the need for psychological therapy to acknowledge the chronicity and impact of symptoms, to enlist multidisciplinary support and to consider alternative options. Further advocacy is required to educate women on the benefits of psychological therapy for endometriosis.
Unpacking the Relationship Between COVID‐19‐Related Stress and Quality of Life Among High School Students: A Socio‐Ecological Resilience Perspective
Authors: Jiang Chaoxin , He Wenjiong , Jiang Shan 
Published: March 2024

ABSTRACTThe COVID‐19 pandemic is a serious public health challenge that causes negative effects on adolescents. This study aims to investigate the mediating roles of individual, family and community resilience in the association between COVID‐19‐related stress and quality of life according to the socio‐ecological theory. The sample consists of 814 adolescents from high schools in Zhejiang province, China (mean age = 16.79 years; 51.11% girls), collected by a multi‐stage cluster random sampling. The multiple mediation model is performed by SPSS macro PROCESS. The results show that individual resilience (β = −0.017, 95% CI [−0.044, −0.003]), family resilience (β = −0.028, 95% CI [−0.058, −0.008]) and community resilience (β = −0.031, 95% CI [−0.062, −0.007]) partially mediate the relationship between COVID‐19‐related stress and life satisfaction. Moreover, individual resilience (β = −0.028, 95% CI [−0.056, −0.008]), family resilience (β = −0.017, 95% CI [−0.042, −0.002]) and community resilience (β = −0.033, 95% CI [−0.065, −0.007]) also partially mediate the relationship between COVID‐19‐related stress and subjective well‐being. This study not only elucidates the mediating roles of multidimensional resilience but also provides valuable insights into improving adolescent resilience across different systems.
Re‐thinking youth work as initial mental health support for young people
Authors: Ní Charraighe Alison , Reynolds Andie 
Published: March 2024

AbstractYouth work is a practice that supports young people and bolsters mental health and well‐being. In the aftermath of the Covid‐19 pandemic, young people in the UK have experienced rising levels of mental distress. However, in the broader youth policy field, youth work is rarely acknowledged as a mental health support. This article draws upon research uncovering to what extent youth workers provide mental health support for young people. A survey questionnaire was distributed to youth workers across selected local authorities in central Scotland and north‐east England. Our original findings show that most youth workers provide initial mental health support for young people and, since the pandemic, this has become a key component of youth work practice. The youth workers surveyed were confident that they had the skills, experience and training to provide such support but were struggling to meet increased demand due to funding shortages in the sector.
Seeing like police: Surveillant practices and scopic skills in Recife, Brazil
Authors: Frossard Carolina M. 
Published: March 2024

AbstractDrawing on public–private circuits for urban surveillance in Recife, Brazil, this article unpacks how camera operators and ordinary residents are sensorially attuned to what constitutes a threat to urban order, from the perspective of state security governance. Through the notion of sensory enskilment, the piece delves into how surveillant civilians learn to distinguish such threats in digitally mediated urban sightings. By attending to the development of scopic skills in everyday surveillance contexts, I shed light on how security events become visible and legible across communities of practice, contributing to the formation of policing subjectivities and the maintenance of broader regimes of vigilance. The analysis draws on qualitative research on two sets of sites that cultivate civilians' visual skills around urban security: video‐surveillance control rooms managed by the security secretariats of Recife and Pernambuco, and WhatsApp groups dedicated to the policing of specific territories. This article seeks to deepen recent debates on how vertical and lateral forms of surveillance shape political communities and sociospatial divides.
Primary cutaneous apocrine carcinoma with RARA::NPEPPS fusion
Authors: Lenskaya Volha , Yang Richard K. , Cho Woo Cheal 
Published: March 2024

AbstractGene fusions have emerged as crucial molecular drivers of oncogenesis in a subset of cutaneous adnexal neoplasms, including poroid neoplasms and hidradenomas. We present a unique case of primary cutaneous apocrine carcinoma harboring RARA::NPEPPS fusion, broadening the spectrum of fusion‐associated cutaneous adnexal neoplasms. A 77‐year‐old African American male presented with an ulcerated thigh nodule. Histopathologically, the predominantly dermal‐based adenocarcinoma exhibited papillary, micropapillary, cribriform, and solid growth patterns with central comedonecrosis, set in a fibrotic/desmoplastic stroma. Immunophenotypically, the neoplastic cells were positive for CK7, CK19, GATA3, TRPS1, HER2, CK5/6, calretinin, p63, and DPC4 (no loss), while lacking immunoreactivity for CK20, CDX2, TTF1, napsin‐A, PAX8, arginase‐1, adipophilin, NKX3.1, uroplakin II, and D2‐40. The immunoprofile and clinical and radiographic absence of any internal malignancy, including breast carcinoma, except for multiple lymphadenopathy, supported the diagnosis of primary cutaneous apocrine carcinoma. Next‐generation sequencing unveiled the novel RARA::NPEPPS fusion, concurrent ERBB2 amplification, and multiple somatic mutations involving TP53, CDKN2A, BRCA2, PIK3CA, PIK3R1, and others. The patient developed widespread metastases within a year after the initial diagnosis, indicating the tumor's aggressive behavior. This novel fusion, unprecedented in any human malignancies including primary cutaneous adnexal carcinomas, may suggest a potential new subtype within primary cutaneous adnexal carcinoma.
Quantifying the effects of fragmentation of connectivity networks of deep‐sea vulnerable marine ecosystems
Authors: Wang Shuangqiang , Kenchington Ellen , Murillo F. Javier , Lirette Camille , Wang Zeliang , Koen‐Alonso Mariano , Kenny Andrew , Sacau Mar , Pepin Pierre 
Published: March 2024

AbstractAimProtection of vulnerable marine ecosystems (VMEs) in the high seas has focussed on identifying concentrations of indicator species and prohibiting the operation of bottom‐contact fishing gears where those occur in significant concentrations. Most such species have planktonic larvae and depend on dispersal networks for inter‐generational persistence. Yet, connectivity amongst patches of VME has seldom been considered when spatial management measures are introduced. Here, the relative importance of individual patches for the maintenance of their connectivity networks is evaluated, and a prioritization scheme for management action is proposed. Effective conservation measures should maintain approximately natural network configurations whenever possible.LocationGrand Bank and Flemish Cap, Northwest Atlantic Ocean.Methods3‐D Lagrangian particle tracking was used to model larval dispersal connections between known patches of each of seven groups of benthic invertebrate taxa, previously recognized as indicators of VME. Connectivity networks were constructed and the effects of habitat loss simulated by systematic removal of whole patches, to determine the importance of each patch to connectivity within its respective network.ResultsThe various patches differed widely in their contributions to network connectivity. Each taxon group had both some patches that, if removed from the network, would result in a major decline in connectedness but also several which could be lost with negligible consequences for the remainder.Main ConclusionsWhile protecting each patch of VME has conservation value, the wide variation in connectedness shows that some patches are much more critical than others to the long‐term persistence of the taxa, providing a foundation for prioritization of conservation actions.
The impact of metformin on weight and metabolic parameters in patients with obesity: A systematic review and meta‐analysis of randomized controlled trials
Authors: Haber Rachelle , Zarzour Fatima , Ghezzawi Malak , Saadeh Natalie , Bacha Dania S. , Al Jebbawi Lama , Chakhtoura Marlene , Mantzoros Christos S. 
Published: March 2024

AbstractThere are conflicting data on the weight‐reducing potential of metformin (MTF) in nondiabetic patients with obesity. The purpose of this systematic review and meta‐analysis was to evaluate the effect of MTF on weight and cardiometabolic parameters in adults with overweight/obesity with or without nonalcoholic fatty liver disease (NAFLD) (CRD42018085512). We included randomized controlled trials (RCTs) in adults without diabetes mellitus, with mean body mass index (BMI) ≥ 25 kg/m2, with or without NAFLD, comparing MTF to placebo/control, lifestyle modification (LSM) or a US Food and Drug Administration‐approved anti‐obesity drug, reporting on weight or metabolic parameters, and extending over at least 3 months. We conducted a systematic search in MEDLINE, EMBASE, PubMed and the Cochrane Library without time limitation (until March 2022). We screened and selected eligible articles, abstracted relevant data, and assessed the risk of bias. All steps were in duplicate and independently. We conducted a random‐effects model meta‐analysis using Review Manager version 5.3, with prespecified subgroup analyses in case of heterogeneity. We identified 2650 citations and included 49 trials (55 publications). Compared to placebo, MTF was associated with a significant reduction in BMI (mean difference [MD] −0.56 [−0.74, −0.37] kg/m2; p < 0.0001), at doses ranging from 500 to 2550 mg/day, and with a significant percentage change in BMI of −2.53% (−2.90, −2.17) at the dose 1700 mg/day. There was no interaction by baseline BMI, MTF dose or duration, nor presence or absence of NAFLD. There was no significant difference between MTF and LSM. Orlistat was more effective than MTF (at doses of 1000–1700 mg/day) in terms of weight loss, with an MD in BMI of −3.17 (−5.88; −0.47) kg/m2, favouring the former. Compared to placebo/control, MTF improved insulin parameters, while no effect was detected when compared to LSM. A few small trials showed heterogenous effects on liver parameters in patients with NAFLD treated with MTF compared to placebo/control. There was a large variability in the expression of outcome measures and RCTs were of low quality. In conclusion, MTF was associated with a modest weight reduction in obese nondiabetic patients. Further high‐quality and better powered studies are needed to examine the impact of MTF in patients with insulin resistance and NAFLD.
European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERNEURO‐NMD)
Authors: Van Damme Philip , Al‐Chalabi Ammar , Andersen Peter M. , Chiò Adriano , Couratier Philippe , De Carvalho Mamede , Hardiman Orla , Kuźma‐Kozakiewicz Magdalena , Ludolph Albert , McDermott Christopher J. , Mora Jesus S. , Petri Susanne , Probyn Katrin , Reviers Evy , Salachas François , Silani Vincenzo , Tysnes Ole‐Bjørn , van den Berg Leonard H. , Villanueva Gemma , Weber Markus 
Published: March 2024

AbstractBackgroundThis update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO‐NMD) and the support of the European Network for the Cure ALS (ENCALS) and the European Organization for Professionals and Patients with ALS (EUpALS).MethodsGrading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the effectiveness of interventions for ALS. Two systematic reviewers from Cochrane Response supported the guideline panel. The working group identified a total of 26 research questions, performed systematic reviews, assessed the quality of the available evidence, and made specific recommendations. Expert consensus statements were provided where insufficient evidence was available.ResultsA guideline mapping effort revealed only one other ALS guideline that used GRADE methodology (a National Institute for Health and Care Excellence [NICE] guideline). The available evidence was scarce for many research questions. Of the 26 research questions evaluated, the NICE recommendations could be adapted for 8 questions. Other recommendations required updates of existing systematic reviews or de novo reviews. Recommendations were made on currently available disease‐modifying treatments, multidisciplinary care, nutritional and respiratory support, communication aids, psychological support, treatments for common ALS symptoms (e.g., muscle cramps, spasticity, pseudobulbar affect, thick mucus, sialorrhea, pain), and end‐of‐life management.ConclusionsThis update of the guideline using GRADE methodology provides a framework for the management of ALS. The treatment landscape is changing rapidly, and further updates will be prepared when additional evidence becomes available.
Distinct neural signatures of pulvinar in C9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers
Authors: Nigri Anna , Stanziano Mario , Fedeli Davide , Manera Umberto , Ferraro Stefania , Medina Carrion Jean Paul , Palermo Sara , Lequio Laura , Denegri Federica , Agosta Federica , Spinelli Edoardo Gioele , Filippi Massimo , Grisoli Marina , Valentini Maria Consuelo , De Mattei Filippo , Canosa Antonio , Calvo Andrea , Chiò Adriano , Bruzzone Maria Grazia , Moglia Cristina 
Published: March 2024

AbstractBackground and purposeThalamic alterations have been reported as a major feature in presymptomatic and symptomatic patients carrying the C9orf72 mutation across the frontotemporal dementia–amyotrophic lateral sclerosis (ALS) spectrum. Specifically, the pulvinar, a high‐order thalamic nucleus and timekeeper for large‐scale cortical networks, has been hypothesized to be involved in C9orf72‐related neurodegenerative diseases. We investigated whether pulvinar volume can be useful for differential diagnosis in ALS C9orf72 mutation carriers and noncarriers and how underlying functional connectivity changes affect this region.MethodsWe studied 19 ALS C9orf72 mutation carriers (ALSC9+) accurately matched with wild‐type ALS (ALSC9−) and ALS mimic (ALSmimic) patients using structural and resting‐state functional magnetic resonance imaging data. Pulvinar volume was computed using automatic segmentation. Seed‐to‐voxel functional connectivity analyses were performed using seeds from a pulvinar functional parcellation.ResultsPulvinar structural integrity had high discriminative values for ALSC9+ patients compared to ALSmimic (area under the curve [AUC] = 0.86) and ALSC9− (AUC = 0.77) patients, yielding a volume cutpoint of approximately 0.23%. Compared to ALSmimic, ALSC9− showed increased anterior, inferior, and lateral pulvinar connections with bilateral occipital–temporal–parietal regions, whereas ALSC9+ showed no differences. ALSC9+ patients when compared to ALSC9− patients showed reduced pulvinar–occipital connectivity for anterior and inferior pulvinar seeds.ConclusionsPulvinar volume could be a differential biomarker closely related to the C9orf72 mutation. A pulvinar–cortical circuit dysfunction might play a critical role in disease progression and development, in both the genetic phenotype and ALS wild‐type patients.
Specific consistency score for rational selection of epilepsy resection surgery candidates
Authors: Tojima Maya , Shimotake Akihiro , Neshige Shuichiro , Okada Tadashi , Kobayashi Katsuya , Usami Kiyohide , Matsuhashi Masao , Honda Masayuki , Takeyama Hirofumi , Hitomi Takefumi , Yoshida Takeshi , Yokoyama Atsushi , Fushimi Yasutaka , Ueno Tsukasa , Yamao Yukihiro , Kikuchi Takayuki , Namiki Takao , Arakawa Yoshiki , Takahashi Ryosuke , Ikeda Akio 
Published: March 2024

AbstractObjectiveDegree of indication for epilepsy surgery is determined by taking multiple factors into account. This study aimed to investigate the usefulness of the Specific Consistency Score (SCS), a proposed score for focal epilepsy to rate the indication for epilepsy focal resection.MethodsThis retrospective cohort study included patients considered for resective epilepsy surgery in Kyoto University Hospital from 2011 to 2022. Plausible epileptic focus was tentatively defined. Cardinal findings were scored based on specificity and consistency with the estimated laterality and lobe. The total points represented SCS. The association between SCS and the following clinical parameters was assessed by univariate and multivariate analysis: (1) probability of undergoing resective epilepsy surgery, (2) good postoperative seizure outcome (Engel I and II or Engel I only), and (3) lobar concordance between the noninvasively estimated focus and intracranial electroencephalographic (EEG) recordings.ResultsA total of 131 patients were evaluated. Univariate analysis revealed higher SCS in the (1) epilepsy surgery group (8.4 [95% confidence interval (CI) = 7.8–8.9] vs. 4.9 [95% CI = 4.3–5.5] points; p < .001), (2) good postoperative seizure outcome group (Engel I and II; 8.7 [95% CI = 8.2–9.3] vs. 6.4 [95% CI = 4.5–8.3] points; p = .008), and (3) patients whose focus defined by intracranial EEG matched the noninvasively estimated focus (8.3 [95% CI = 7.3–9.2] vs. 5.4 [95% CI = 3.5–7.3] points; p = .004). Multivariate analysis revealed areas under the curve of .843, .825, and .881 for Parameters 1, 2, and 3, respectively.SignificanceSCS provides a reliable index of good indication for resective epilepsy surgery and can be easily available in many institutions not necessarily specializing in epilepsy.
Decolonizing and Decoloniality in African Women Theology
Authors: Gunda Masiiwa Ragies 
Published: March 2024

AbstractDecolonization and decoloniality offer potential gains to African Women Theology (AWT) to address the intersections, continuities, and discontinuities between the pre‐colonial, colonial, and Christian gender ideologies that have disempowered African women. While African women theologians have, at different points, identified the patriarchal forces in these three spheres, an intentional intersectional approach has not always successfully challenged the colonial meta‐narratives of the construction of the African man. Decolonization and decoloniality offer a critical theoretical framework to not only deal with gender meta‐narratives but to deconstruct and dismantle these narratives to develop responses that are appropriate for their communities. These perspectives will also cement AWT as a major player in the renewed calls for decolonization and decoloniality in Africa. This article acknowledges an intersectionality of traditional, colonial, and post‐colonial patriarchies and the persistence of coloniality in the present spaces in which AWT operates, as well as discontinuities in the gender perspectives in these different periods.
Access to justice and strategic climate litigation in the EU: Curing the incurable?
Authors: Krężel Angelika 
Published: March 2024

AbstractAccess to justice in the EU is to be assured via both the CJEU and national courts through direct and indirect action procedures. Following this, the main argument developed throughout this analysis is that the CJEU differentiates the revision standard when interpreting the obligations of EU institutions and those of Member States. It is concluded that this kind of interpretation maintains the limitations to access to justice for individuals in the EU (the ‘incurable’), even when faced with the attempt to overcome this restrictive interpretation in the specific case of strategic climate litigation (‘curing the incurable’). The specific case of strategic climate litigation is used as an example to illustrate the negative consequences of limitations to access to justice for individuals in the EU. In conclusion, it is assessed whether there are any other ‘real cures’ for this deadlocked situation and what the rationale is behind these double standards.