bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells
Authors: Cipolli Marco , Boni Christian , Penzo Marianna , Villa Isabella , Bolamperti Simona , Baldisseri Elena , Frattini Annalisa , Porta Giovanni , Api Martina , Selicato Nora , Roccia Pamela , Pollutri Daniela , Marinelli Busilacchi Elena , Poloni Antonella , Caporelli Nicole , D'Amico Giovanna , Pegoraro Anna , Cesaro Simone , Oyarbide Usua , Vella Antonio , Lippi Giuseppe , Corey Seth J. , Valli Roberto , Polini Alessandro , Bezzerri Valentino 
Published: October 2023

SummaryShwachman–Diamond syndrome (SDS) is characterized by neutropenia, exocrine pancreatic insufficiency and skeletal abnormalities. SDS bone marrow haematopoietic progenitors show increased apoptosis and impairment in granulocytic differentiation. Loss of Shwachman–Bodian–Diamond syndrome (SBDS) expression results in reduced eukaryotic 80S ribosome maturation. Biallelic mutations in the SBDS gene are found in ~90% of SDS patients, ~55% of whom carry the c.183‐184TA>CT nonsense mutation. Several translational readthrough‐inducing drugs aimed at suppressing nonsense mutations have been developed. One of these, ataluren, has received approval in Europe for the treatment of Duchenne muscular dystrophy. We previously showed that ataluren can restore full‐length SBDS protein synthesis in SDS‐derived bone marrow cells. Here, we extend our preclinical study to assess the functional restoration of SBDS capabilities in vitro and ex vivo. Ataluren improved 80S ribosome assembly and total protein synthesis in SDS‐derived cells, restored myelopoiesis in myeloid progenitors, improved neutrophil chemotaxis in vitro and reduced neutrophil dysplastic markers ex vivo. Ataluren also restored full‐length SBDS synthesis in primary osteoblasts, suggesting that its beneficial role may go beyond the myeloid compartment. Altogether, our results strengthened the rationale for a Phase I/II clinical trial of ataluren in SDS patients who harbour the nonsense mutation.
Screening for haemoglobin disorders: One size may not fit all
Authors: Shook Lisa M. , Ware Russell E. 
Published: October 2023

Accurate laboratory screening for sickle cell disease and other haemoglobin disorders is expanding worldwide. Two new reports describe different methods and strategies for screening in Mali and Denmark, respectively, and their encouraging results suggest that countries should tailor their screening programmes according to local needs, resources and opportunities.Commentary on: Guindo et al. Potential for a large‐scale newborn screening strategy for sickle cell disease in Mali: a comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood. Br J Haematol 2024;204:337–345 and Gravholt et al. The Danish national haemoglobinopathy screening programme: report from 16 years of screening in a low‐prevalence, non‐endemic region. Br J Haematol 2024;204:329–336.
Origin and outcome of metastatic tumours to the testes: a nationwide study
Authors: Woortman Carmen , van Leenders Geert J. L. H. , Hugen Niek , van Oijen Martijn G. H. , Nagtegaal Iris D. 
Published: October 2023

ObjectivesTo perform a retrospective cohort analysis for metastatic tumours in the testes to explore the timing, presentation and prognosis of this particular type of metastases and the factors that influence outcome.Patients and methodsA nationwide retrospective review of pathology reports of patients with pathologically confirmed metastases to the testis between 1991 and 2021 was performed. Data were collected from the Dutch nationwide pathology databank (PALGA) and the Netherlands Cancer Registry. Log‐rank testing and Kaplan–Meier analyses were used to assess overall survival (OS), and Cox proportional hazard models were used for multivariate survival analysis.ResultsA total of 175 patients with a testicular metastasis were included. The median (range) age at diagnosis of testicular metastasis was 67 (3–88) years. Testicular metastases originated from a variety of primary tumours, although most frequently from the prostate (40.6%), kidney (13.7%), colon (10.3%), bladder (7.4%) and skin (5.7%). Synchronous testicular metastasis was detected in 53 cases, while 114 metachronous lesions were found after a median (interquartile range) interval of 22 (1–53) months after the original cancer diagnosis. OS after the diagnosis of a testicular metastasis was poor, with a median survival of 14.2 months (95% confidence interval 10.2–18.3). Primary tumour origin was an independent factor for survival, with worst survival for patients with primary skin, bladder and colon cancer.ConclusionTesticular metastases are very uncommon and arise mainly from primary tumours anatomically close to the testes. Most patients develop metachronous testicular metastasis at an oligometastatic disease stage. These metastases are invariably associated with poor survival.
Random choice and market demand
Authors: Birchenall Javier A. 
Published: October 2023

AbstractThis paper examines a statistical model of choice in which individual decisions have no preferential basis or optimizing behaviour. Individual consumption is chosen at random, while respecting a linear budget set. All the properties of classical demand theory, including symmetry and negative (semi)definiteness of the Slutsky matrix, are shown to be generally satisfied by mean (i.e., market) demands. Despite the fact that individuals are “irrational,” mean demands can be rationalized as the outcome of utility‐maximizing behaviour, even when demands are interior. The severity and frequency of revealed preference violations are unable to reject economic rationality in irrational individuals.
Piloting the Mockingbird Family™ in Australia: Experiences of foster carers and agency workers
Authors: McLaren Helen , Patmisari Emi , Jones Michelle , Skinner Chris , Mather Simone 
Published: October 2023

AbstractGiven that the number of children and young people needing care keeps rising and fewer people are becoming foster carers, efforts to support carers and workers in foster caring are essential. This paper considers the experiences of carers and foster care agency workers involved in Australia's piloting of the Mockingbird Family. With a view understanding experience, data were collected via focus groups with carers and agency workers (n = 20) involved in piloting, implementation and evaluation. Deductive analysis applied the theory of experience to generate understanding of experience, as both intrinsic and extrinsic dimensions to capture strengths in the Mockingbird Family's foster caring networks. These dimensions of experience included collective passions of carers and workers; experiential change over time; collective experiences as a moving force; and experiences as transformational. Understanding of experience associated with the perceived strengths of the Mockingbird Family, including strategies to promote strong professional relationships between carers and workers, is an important element in strengthening environments of children and young people in care. Safe and stable environments are crucial for wellbeing.
Child marriage: Representation of the marriage of underage girls problem in the Turkish print media
Authors: Bayhantopçu Esra 
Published: October 2023

AbstractChild marriage, specifically the marriage of underage girls, is a crucial social problem that cuts across religions and cultures and can be considered as violence against children and women. Currently, the media is one of the strongest public spheres to combat this problem apart from national and international laws and agreements. This study aims to analyse how the child marriage problem is represented in the Turkish print media within the framework of feminist theory. The analysis is based on 246 news reports related to child marriages. The study found that even though the issue has been identified as a problem in the Turkish print media, it has not come to the forefront. Rather, the newspapers have normalized the issue of underage marriage, especially through the use of language.
Reciprocal spaces: The socio‐material life of balconies in urban Egypt
Authors: Ghannam Farha 
Published: October 2023

Abstract“Reciprocal spaces,” such as windows and balconies, connect the vertical and the horizontal, enable the flow of meanings and feelings, and join with other material artifacts to unite emotionally and socially those who are spatially distant, and socially and emotionally distance those who are spatially proximate. Cairo's balconies reveal that reciprocal spaces allow the gaze to be reoriented, the meaning to be circulated, and the feeling to be shared. They blur the distinction between the subject and the object, the observer and the observed, and the high and the low. Drawing on long‐term ethnographic research in Cairo and informed by the work of Pierre Bourdieu and Karen Barad, this paper shows that the balcony is entangled with other objects, spaces, and people in ways that materialize the socio‐economic hierarchies (especially class and gender), which structure daily practices and constitute urban subjects. Incorporating balconies in ethnographic research, this paper argues, enables us to be in the city while thinking of the city, undermining a dichotomy that has long troubled urban anthropology.
Patient and healthcare professional acceptability of pharmacogenetic screening for DPYD and UGT1A1: A cross sectional survey
Authors: Glewis Sarah , Krishnasamy Mei , Lingaratnam Senthil , Harris Sam , Underhill Craig , Georgiou Chloe , Warren Mark , Campbell Robert , IJzerman Maarten , Fagery Mussab , Campbell Ian , Martin Jennifer H. , Tie Jeanne , Alexander Marliese , Michael Michael 
Published: October 2023

AbstractThis study explored the acceptability of a novel pharmacist‐led pharmacogenetics (PGx) screening program among patients with cancer and healthcare professionals (HCPs) taking part in a multicenter clinical trial of PGx testing (PACIFIC‐PGx ANZCTR:12621000251820). Medical oncologists, oncology pharmacists, and patients with cancer from across four sites (metropolitan/regional), took part in an observational, cross‐sectional survey. Participants were recruited from the multicenter trial. Two study‐specific surveys were developed to inform implementation strategies for scaled and sustainable translation into routine clinical care: one consisting of 21 questions targeting HCPs and one consisting of 17 questions targeting patients. Responses were collected from 24 HCPs and 288 patients. The 5‐to‐7‐day PGx results turnaround time was acceptable to HCP (100%) and patients (69%). Most HCPs (92%) indicated that it was appropriate for the PGx clinical pharmacist to provide results to patients. Patients reported equal preference for receiving PGx results from a doctor/pharmacist. Patients and HCPs highly rated the pharmacist‐led PGx service. HCPs were overall accepting of the program, with the majority (96%) willing to offer PGx testing to their patients beyond the trial. HCPs identified that lack of financial reimbursements (62%) and lack of infrastructure (38%) were the main reasons likely to prevent/slow the implementation of PGx screening program into routine clinical care. Survey data have shown overall acceptability from patients and HCPs participating in the PGx Program. Barriers to implementation of PGx testing in routine care have been identified, providing opportunity to develop targeted implementation strategies for scaled translation into routine practice.
Analysis of aneurysmal subarachnoid hemorrhage as a multistep process
Authors: Ruigrok Ynte M. , Rinkel Gabriel J. E. , Chang Han‐Sol , Hackenberg Katharina A. M. , Etminan Nima , Veldink Jan H. 
Published: October 2023

AbstractBackground and purposeAneurysmal subarachnoid hemorrhage (ASAH) is a complex disease with higher incidence in women compared to men and in Japan compared to other countries. It was hypothesized that ASAH is consistent with a multistep model of disease. The following assessments were made: (1) the number of steps needed for the disease to occur and (2) whether this number may be different in female versus male and in Japanese versus non‐Japanese patients.MethodsIncidence data were generated from a meta‐analysis on ASAH incidence until 2017, which was supplemented with a literature search from 2017 to April 2023. Age‐ and sex‐adjusted incidences per 10‐year age groups were calculated and the logarithm of age‐specific incidence against the logarithm of age was regressed with least‐squares regression.ResultsIn 2317 ASAH patients a linear relationship between logarithm of incidence and logarithm of age was found with a slope estimate of 3.13 (95% confidence interval 2.60–3.65), consistent with a four‐step process. Similar estimates were found for female, male, Japanese and non‐Japanese patients.ConclusionsOur results suggest that ASAH is a four‐step process, also in subgroups with higher ASAH incidence. Elucidation of the exact nature of these steps can provide important clues for identification of disease mechanisms underlying ASAH.
A review of detecting malware in android devices based on machine learning techniques
Authors: Sharma Monika , Kaul Ajay 
Published: October 2023

AbstractMalware developers install malware on mobile users' devices and steal their personal information without their knowledge. According to recent studies, it has been observed that malware developers are now targeting Android mobile devices. Researchers have examined the issues of detecting malware in these devices and proposed different methods and techniques. This study's main goal is to aid researchers in gaining a basic understanding of Android malware and its numerous detection methods. Earlier experiments that used machine learning to detect Android malware will be carefully reviewed in this paper. This in‐depth review article thoroughly examines the origins, evolution, and sustainability of Android malware detection. It offers an in‐depth literature review that includes the most recent approaches and research trends for detecting malware, from static analysis to dynamic analysis, machine learning, and deep learning. Additionally, we review current approaches' shortcomings and difficulties and suggest possible paths for further investigation. The paper aims to stimulate further innovation in this essential field by providing researchers and practitioners with a comprehensive overview of the current status of Android malware detection.
A phase 3b, multicenter, open‐label, single‐arm study of roxadustat within a US dialysis organization: The DENALI study
Authors: Larkin John , Hymes Jeffrey , Britton Marcus L. , Oluwatosin Yemmie , Nolen Jacqueline , Zhu Lixia , Silva Arnold 
Published: October 2023

AbstractIntroductionRoxadustat is an oral hypoxia‐inducible factor prolyl hydroxylase inhibitor approved in several regions for the treatment of anemia of chronic kidney disease (CKD). DENALI, a phase 3b study, evaluated the efficacy, safety, and feasibility of roxadustat in patients with anemia of CKD receiving in‐center or home dialysis.MethodsEligible patients received open‐label roxadustat, dosed three times weekly for 24 weeks, with an optional extension of ≤1 year. Initial dosing depended on erythropoiesis‐stimulating agent (ESA) dose at screening for patients receiving ESAs (≥6 weeks) and weight‐based for those not (total <6 weeks). Primary efficacy endpoints were proportion of patients with mean hemoglobin (Hb) ≥10.0 g/dL averaged over Weeks 16–24, and mean Hb change from baseline to the average during Weeks 16–24. Treatment‐emergent adverse events (TEAEs) and treatment‐emergent serious adverse events (TESAEs) were assessed.FindingsOf 281 patients screened, 203 were treated and 201 included in the full analysis set. Overall, 166 patients completed the 24‐week treatment period and 126 continued into the extension period. Mean baseline Hb was 10.4 g/dL and 82.6% received in‐center hemodialysis. Overall, 84.6% of patients achieved a mean Hb ≥ 10.0 g/dL averaged Weeks 16–24. Mean (standard deviation) Hb change from baseline averaged Weeks 16–24 was 0.5 (1.0) g/dL. Prespecified subgroup analyses were consistent with primary analyses. Dosing adherence was 94%. Overall, 3.0% of patients received a red blood cell transfusion at up to Week 24. TEAEs and TESAEs were reported by 71.4% and 25.6% of patients, respectively. The most frequently reported TESAEs were COVID‐19 (n = 5; 2.5%), and acute myocardial infarction, pneumonia, and sepsis (each n = 4; 2.0%).DiscussionRoxadustat effectively achieved and/or maintained mean Hb levels ≥10.0 g/dL in patients receiving dialysis. The feasibility of incorporating oral roxadustat into dialysis organizations was successfully demonstrated with high dosing adherence. No new safety signals were identified.
Clinical boundaries in adult cases of large B cell lymphoma with IRF4 rearrangement
Authors: Maguire Jessica , Harvey Harry , Jones Alfred , Law Ruth , Bashir Masoud , O'Brien Odharnaith , Sargent Jeremy , Grant Cliona , Flavin Richard 
Published: October 2023

AimsLarge B‐cell lymphoma with IRF4 rearrangement (LBCL‐IRF4) is a recently described entity included in the revised 4th edition of the WHO Classification of Haematolymphoid Tumours (2017). Here we highlight the difficulties in classification of those cases which arise in adult patients with unusual clinical features.ResultsWe present three cases with morphological and immunohistochemical features consistent with large B‐cell lymphoma arising in adult patients, which were found to have isolated IRF4 rearrangements on FISH analysis. Each patient presented with advanced‐stage disease and had a history of immunosuppression; clinical features that are not typical of LBCL‐IRF4 and which make the distinction from DLBCL, not otherwise specified (NOS) challenging.ConclusionWe propose that the clinical boundaries of LBCL‐IRF4 arising in adult patients need further delineation to allow distinction from true cases of DLBCL, NOS.
A classic screening marker does not affect antennal electrophysiology but strongly regulates reproductive behaviours in Bactrocera dorsalis
Authors: Wuyun QiQige , Zhang Yan , Yuan Jinxi , Zhang Jie , Ren Cong , Wang Qi , Yan Shanchun , Liu Wei , Wang Guirong 
Published: October 2023

AbstractThe key phenotype white eye (white) has been used for decades to selectively remove females before release in sterile insect technique programs and as an effective screening marker in genetic engineering. Bactrocera dorsalis is a representative tephritid pest causing damage to more than 150 fruit crops. Yet, the function of white in important biological processes remains unclear in B. dorsalis. In this study, the impacts of the white gene on electrophysiology and reproductive behaviour in B. dorsalis were tested. The results indicated that knocking out Bdwhite disrupted eye pigmentation in adults, consistent with previous reports. Bdwhite did not affect the antennal electrophysiology response to 63 chemical components with various structures. However, reproductive behaviours in both males and females were significantly reduced in Bdwhite−/−. Both pre‐copulatory and copulation behaviours were significantly reduced in Bdwhite−/−, and the effect was male‐specific. Mutant females significantly delayed their oviposition towards γ‐octalactone, and the peak of oviposition behaviour towards orange juice was lost. These results show that Bdwhite might not be an ideal screening marker in functional gene research aiming to identify molecular targets for behaviour‐modifying chemicals. Instead, owing to its strong effect on B. dorsalis sexual behaviours, the downstream genes regulated by Bdwhite or the genes from white‐linked areas could be alternate molecular targets that promote the development of better behavioural modifying chemical‐based pest management techniques.
Solid‐state NMR for the analysis of interface excesses in Li‐doped MgAl2O4 nanocrystals
Authors: Bernardes André A. , da Silva Andre L. , Bettini Jefferson , Freitas Jair C. C. , Castro Ricardo H. R. , Gouvêa Douglas 
Published: October 2023

AbstractInterface segregation plays a governing role in nanocrystalline ceramics properties due to the relative increase in the interfacial volume fraction. However, due to the complexity of the detection and quantification of interfacial excesses at the nanoscale, the role of ionic dopants or additives on microstructural evolution and thermodynamics can be easily underestimated. In this work, we address the spatial distribution of Li+ as a dopant in magnesium aluminate spinel nanoparticles. This is achieved through a novel method for the detection and quantification of Li+ across the surface, grain boundary, and bulk (crystal lattice). Based on selective lixiviation combined with chemical analysis, we were able to quantify the amount of Li+ forming surface excess, whereas the quantitative solid‐state nuclear magnetic resonance technique enabled the quantification of Li+ segregated in the grain boundaries and dissolved in the lattice. This comprehensive understanding of the Li+ distribution across the nanoparticles makes possible an unprecedented interpretation of coarsening and sintering, with a clear correlation between the microstructure and the Li+ distribution. Although the work focuses on MgAl2O4, the proposed combination of techniques is expected to have a positive impact on the understanding of other multicomponent nanoscale systems.
A roadmap for pyrodiversity science
Authors: Steel Zachary L. , Miller Jesse E. D. , Ponisio Lauren C. , Tingley Morgan W. , Wilkin Kate , Blakey Rachel , Hoffman Kira M. , Jones Gavin 
Published: October 2023

AbstractBackgroundContemporary and projected shifts in global fire regimes highlight the importance of understanding how fire affects ecosystem function and biodiversity across taxa and geographies. Pyrodiversity, or heterogeneity in fire history, is often an important driver of biodiversity, though it has been largely overlooked until relatively recently. In this paper, we synthesise previous research to develop a theoretical framework on pyrodiversity–biodiversity relationships and propose future research and conservation management directions.Theoretical FrameworkPyrodiversity may affect biodiversity by diversifying available ecological niches, stabilising community networks and/or supporting diverse species pools available for post‐fire colonisation. Further, pyrodiversity's effects on biodiversity vary across different spatial, temporal and organismal scales depending on the mobility and other life history traits of the organisms in question and may be mediated by regional eco‐evolutionary factors such as historical fire regimes. Developing a generalisable understanding of pyrodiversity effects on biodiversity has been challenging, in part because pyrodiversity can be quantified in various ways.Applying the Pyrodiversity ConceptExclusion of Indigenous fire stewardship, fire suppression, increased unplanned ignitions and climate change have led to dramatic shifts in fire regimes globally. Such shifts include departures from historic levels of pyrodiversity and add to existing challenges to biodiversity conservation in fire‐prone landscapes. Managers navigating these challenges can be aided by targeted research into observed contemporary pyrodiversity–biodiversity relationships as well as knowledge of historical reference conditions informed by both Indigenous and local ecological knowledge and western science.Future Research DirectionsSeveral promising avenues exist for the advancement of pyrodiversity science to further both theoretical and practical goals. These lines of investigation include but are not limited to (1) testing the increasing variety of pyrodiversity metrics and analytical approaches; (2) assessing the spatial and temporal scale‐dependence of pyrodiversity's influence; (3) reconstructing historical pyrodiversity patterns and developing methods for predicting and/or promoting future pyrodiversity; and (4) expanding the focus of pyrodiversity science beyond biodiversity to better understand its influence on ecosystem function and processes more broadly.