bluuebunny/crossref_metadata_2025_split huggingface dataset:
Production of therapeutic iduronate‐2‐sulfatase enzyme with a novel single‐stranded RNA virus vector
Authors: Ohira Mari , Kikuchi Emika , Mizuta Shiori , Yoshida Naomi , Onodera Masafumi , Nakanishi Mahito , Okuyama Torayuki , Mashima Ryuichi 
Published: September 2021

AbstractThe Sendai virus vector has received a lot of attention due to its broad tropism for mammalian cells. As a result of efforts for genetic studies based on a mutant virus, we can now express more than 10 genes of up to 13.5 kilo nucleotides in a single vector with high protein expression efficiency. To prove this benefit, we examined the efficacy of the novel ribonucleic acid (RNA) virus vector harboring the human iduronate‐2‐sulfatase (IDS) gene with 1,653 base pairs, a causative gene for mucopolysaccharidosis type II, also known as a disorder of lysosomal storage disorders. As expected, this novel RNA vector with the humanIDSgene exhibited its marked expression as determined by the expression of enhanced green fluorescent protein and IDS enzyme activity. While these cells exhibited a normal growth rate, the BHK‐21 transformant cells stably expressing the humanIDSgene persistently generated an active human IDS enzyme extracellularly. The human IDS protein produced failed to be incorporated into the lysosome when cells were pretreated with mannose‐6‐phosphate, demonstrating that this human IDS enzyme has potential for therapeutic use by cross‐correction. These results suggest that our novel RNA vector may be applicable for further clinical settings.
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A
Authors: Jourdy Yohann , Bardel Claire , Fretigny Mathilde , Diguet Flavie , Rollat‐Farnier Pierre‐Antoine , Mathieu Marie‐Laure , Labalme Audrey , Sanlaville Damien , Edery Patrick , Vinciguerra Christine , Schluth‐Bolard Caroline 
Published: September 2021

AbstractIntroductionDepending on the location of insertion of the gained region, F8 duplications can have variable clinical impacts from benign impact to severe haemophilia A phenotype.AimTo characterize two large Xq28 duplications involving F8 incidentally detected by chromosome microarray analysis (CMA) in two patients presenting severe intellectual disability but no history of bleeding disorder.MethodsWhole genome sequencing (WGS) was performed in order to characterize the two large Xq28 duplications at nucleotide level.ResultsIn patient 1, a 60–73 kb gained region encompassing the exons 23–26 of F8 and SMIM9 was inserted at the int22h‐2 locus following a non‐homologous recombination between int22h‐1 and int22h‐2. We hypothesized that two independent events, micro‐homology‐mediated break‐induced replication (MMBIR) and break‐induced replication (BIR), could be involved in this rearrangement. In patient 2, the CMA found duplication from 101 to 116‐kb long encompassing the exons 16–26 of F8 and SMIM9. The WGS analysis identified a more complex rearrangement with the presence of three genomic junctions. Due to the multiple micro‐homologies observed at breakpoints, a replication‐based mechanism such as fork stalling and template switching (FoSTeS) was greatly suspected. In both cases, these complex rearrangements preserved an intact copy of the F8.ConclusionThis study highlights the value of WGS to characterize the genomic junction at the nucleotide level and ultimately better describe the molecular mechanisms involved in Xq28 structural variations. It also emphasizes the importance of specifying the structure of the genomic gain in order to improve genotype‐phenotype correlation and genetic counselling.
Experiences of healthcare for people living with multiple sclerosis and their healthcare professionals
Authors: Price Eluned , Lucas Robyn , Lane Jo 
Published: September 2021

AbstractBackgroundMultiple sclerosis (MS) is a chronic inflammatory and neurodegenerative condition of the central nervous system that commonly strikes in young adulthood and has no cure. Many people living with MS (PwMS) will have significant contact with a range of healthcare professionals (HCPs). To achieve optimal health outcomes in MS, it is important to understand factors that contribute to positive or negative healthcare experiences. Previous studies have shown that PwMS want clear communication and in‐depth relationships with their HCPs. However, many studies have lacked qualitative feedback from HCPs.ObjectiveThis study aimed to investigate healthcare experiences of PwMS and HCPs and identify areas that are working well and areas that could be improved.MethodsSemistructured interviews with 15 PwMS and 11 HCPs (seven neurologists, four MS nurses) from across Australia were conducted. Interviews were transcribed verbatim and analysed thematically.ResultsBoth PwMS and HCPs valued clear communication, recognized uncertainties associated with MS and highlighted the importance of rapport. PwMS focused on decision‐making, understanding roles and expectations, self‐directed management and their needs for support. HCPs discussed issues related to medical management, providing hope and reassurance, barriers to healthcare and multidisciplinary care.ConclusionGreater transparency and communication, particularly around the approach to care and the roles played by HCPs, is likely to enhance healthcare experiences and contribute to better health outcomes for PwMS.Public ContributionPwMS and HCPs volunteered to be interviewed, and PwMS assisted with the development of interview content and structure.
Adenomatoid tumours of the gastrointestinal tract – a case‐series and review of the literature
Authors: Hissong Erika , Graham Rondell P , Wen Kwun Wah , Alpert Lindsay , Shi Jiaqi , Lamps Laura W 
Published: September 2021

AimsAdenomatoid tumours are mesothelial‐derived benign neoplasms with a predilection for the genital tract. Extragenital sites are rare and can cause significant diagnostic challenges. Herein, we describe the clinicopathological features of a cohort of adenomatoid tumours involving the gastrointestinal tract and liver in order to more clearly characterise their histological findings and aid in diagnosis.Methods and resultsThe pathology databases at four institutions were searched for adenomatoid tumours involving the gastrointestinal tract or liver, yielding eight cases. Available clinicoradiological and follow‐up data were collected from the medical records. Six tumours were incidentally discovered during imaging studies or at the time of surgical exploration for unrelated conditions; presenting symptoms were unknown in two patients. Histologically, the tumours were well‐circumscribed, although focal ill‐defined borders were present in four cases. No infiltration of adjacent structures was identified. Architectural heterogeneity was noted in five (63%) tumours; an adenoid pattern often predominated. The neoplastic cells were flattened to cuboidal with eosinophilic cytoplasm. Cytoplasmic vacuoles mimicking signet ring‐like cells were present in five (63%) cases. Three (38%) cases showed involvement of the mesothelium with reactive mesothelial hyperplasia. Cytological atypia or increased mitotic activity was not identified. The surrounding stroma ranged from oedematous/myxoid to densely hyalinised. Immunohistochemistry confirmed mesothelial origin in all cases evaluated. No patients developed recurrence of disease.ConclusionsThe current study evaluates the clinicopathological findings in a collective series of gastrointestinal and hepatic adenomatoid tumours, correlating with those described in individually reported cases. We highlight common histological features and emphasise variable findings that could mimic a malignant neoplasm.
GETTING BACK TO NORMAL: ON NORMATIVITY IN HISTORY AND HISTORIOGRAPHY
Authors: WOOLF DANIEL 
Published: September 2021

ABSTRACTNormativity has long been a central concept in ethics, medicine, and the social sciences. It has not been fully explored as an element in historiography or historical thought. This article contends that normativity, when taken as a metaconcept that underpins notions of the “normal,” “norms,” and “normality,” can help us understand changing attitudes to the possibility, actuality, and moral exemplarity of historical phenomena, but only if we disaggregate three different modes or registers of normativity: moral, metaphysical, and phenomenal. After exploring the place of moral normativity in historical thought and writing from antiquity to the early modern era, I discuss metaphysical and phenomenal normativity as filters that, from the Middle Ages through the seventeenth century, were applied to reported or recorded experience prior to any decision to derive from it any moral conclusions. I then argue that Baconian empiricism, Humean skepticism, classical probability theory, and mathematical statistics collectively gave rise to a modern sense of what constituted “normality” for past and present events. Finally, I conclude that the late Enlightenment bequeathed to modernity and postmodernity a normalized sense of fundamental rupture (exemplified by the French Revolution and characterized as the “historical sublime”) that we still experience and struggle through as we routinely reconstruct history as both a linear tradition and a discontinuous series of “new normals.” We also contend with this sense of fundamental rupture as we “renormalize” catastrophes that could reasonably be regarded as beyond normalization while simultaneously fetishizing the experience of disruption, which we have defined as a clinamenic swerve from one normality into another. This paradoxical process is accompanied by a deadened capacity to judge that which is, and is not, normal.
THE ESSENTIAL TENSION: HISTORICAL KNOWLEDGE BETWEEN PAST AND PRESENT
Authors: GANGL GEORG 
Published: September 2021

ABSTRACTIn this article, I scrutinize knowledge as it operates in historiography. Historians find themselves in a peculiar position: they need to employ the tools available to them in their present in order to say true things about a past that might have been very different. I argue that our knowledge of the past is best understood through an informational account of knowledge and a coherentist account of justification. In this framework, knowledge claims about the past and anachronisms introduce no special epistemic problems for historiography, and once the logic of historical (re)description and evaluation is understood, historiography stands firm among the historical sciences in terms of the feasibility of its goal of speaking truthfully about the past.
Developing food literacy in young children in the home environment
Authors: Wijayaratne Sanjeewa , Westberg Kate , Reid Mike , Worsley Anthony 
Published: September 2021

AbstractFood literacy is a concept that encompasses a range of skills and knowledge required by consumers to navigate an increasingly complex foodscape and ensure healthy dietary behaviours. It is important that these skills are developed from a young age as food‐related consumption behaviours can persist into adulthood. The purpose of this study is to investigate how the family's dietary gatekeeper, the person primarily responsible for food shopping and meal preparation in the home environment, shares their food literacy skills and knowledge with young children and to identify any challenges they face in doing so. In‐depth semi‐structured face‐to‐face interviews were conducted with parents with high levels of food literacy who had children between 5 and 9 years old. Data were analysed using thematic analysis. The findings identify that dietary gatekeepers share their food literacy capabilities with young children in four main ways as follows: (1) communicating the relationship between food and health, (2) engaging children in food selection, (3) involving children in simple food preparation tasks and (4) modelling healthy behaviours. These practices incorporate skills and knowledge related to the preparation, selection and eating domains of food literacy. Several challenges were also encountered by gatekeepers when trying to share food literacy including time pressure, safety concerns, lack of interest from children and conflict between siblings. The current study highlights the importance of developing initiatives to encourage and support dietary gatekeepers to educate and develop food literacy in young children and to assist them in overcoming the challenges in doing so.
Guidelines for Infection Control in the Urological Field, including Urinary Tract Management (revised second edition)
Authors: Takahashi Satoshi , Arakawa Soichi , Ishikawa Kiyohito , Kamei Jun , Kobayashi Kanao , Shigemura Katsumi , Takahashi Satoru , Hiyama Yoshiki , Hamasuna Ryoichi , Hayami Hiroshi , Yazawa Satoshi , Yasuda Mitsuru , Togo Yoshikazu , Yamamoto Shingo , Wada Koichiro , Watanabe Toyohiko 
Published: September 2021

AbstractThe Committee for the Development of Guidelines for Infection Control in the Urological Field, including Urinary Tract Management of the Japanese Urological Association, together with its systematic review team and external reviewers, have prepared a set of practice guidelines, an abridged version of which is published herein. These guidelines cover the following topics: (i) foundations of infection control, standard precautions, route‐specific precautions, and occupational infection control (including vaccines); (ii) the relationship between urologists and infection control; (iii) infection control in urological wards and outpatient clinics; (iv) response to hepatitis B virus reactivation; (v) infection control in urological procedures and examinations; (vi) prevention of infections occurring in conjunction with medical procedures and examinations; (vii) responses to urinary tract tuberculosis and bacillus Calmette–Guérin; (viii) aseptic handling, cleaning, disinfection, and sterilization of urinary tract endoscopes (principles of endoscope manipulation, endoscope lumen cleaning, and disinfection); (ix) infection control in the operating room (principles of hand washing, preoperative rubbing methods, etc.); (x) prevention of needlestick and blood/bodily fluid exposure and response to accidental exposure; (xi) urinary catheter‐associated urinary tract infection and purple urinary bag syndrome; and (xii) urinary catheter‐associated urinary tract infections in conjunction with home care. In addressing these topics, the relevant medical literature was searched to the extent possible, and content was prepared for the purpose of providing useful information for clinical practice.
The octopamine receptor, OA2B2, modulates stress resistance and reproduction in Nilaparvata lugens Stål (Hemiptera: Delphacidae)
Authors: Zhang Y. J. , Jiang L. , Ahamd S. , Chen Y. , Zhang J. Y. , Stanley D. , Miao H. , Ge L. Q. 
Published: September 2021

AbstractThe brown planthopper (BPH), Nilaparvata lugens (Stål) is a resurgent pest of rice crops throughout Asia. We recently discovered that octopamine (OA) and OA2B2 operate in the BPH mating system, where it mediates a wide range of molecular, physiological and behavioural changes. Here, we report on outcomes of experiments designed to test the hypothesis that OA/OA2B2 signalling mediates responses to three abiotic stressors, starvation, high temperature (37 °C), and induced oxidative stress. We found per os RNAi‐mediated OA2B2 silencing led to significantly decreased survival, measured in days, following exposure to each of these stressors. We selected a biologically costly process, reproductive biology, as a biotic stressor. Silencing of OA2B2 led to decreased total protein content in ovaries and fat bodies, downregulated expression of vitellogenin (Vg) and Vg receptor (VgR), inhibited fat body Vg protein synthesis, shortened the oviposition period, prolonged the preoviposition period, reduced the number of laid eggs, body weight and female longevity. In addition, the silencing treatments also led to inhibited ovarian development, and ovarian Vg uptake, reduced numbers of egg masses and offspring and lower hatching rates and population growth index. These data support our hypothesis that OA2B2 acts in mediating BPH resistance to biotic and abiotic stressors.
Effects of demographic, occupational, and practice environment variables on organizational silence among nurse managers
Authors: Aslan Saliha Koç , Yalçın Begüm , Göktepe Nilgün , Türkmen Emine , Canbolat Sonay , Bakoğlu Neşe , Serbest Şehriban 
Published: September 2021

AbstractAim: To define nurse managers’ organizational silence behaviors and examine the demographic, occupational, and practice environment factors that may influence their silence.Background: Organizational silence is affected by organizational structures, policies and procedures, team structures, and practice environments. Whether nurse managers’ behaviors affect the organizational silence and practice environment in particular has not been thoroughly studied.Methods: This cross‐sectional study was conducted using an online survey of 169 nurse managers working in a group of private hospitals in Turkey. Data were collected using the Nurse Manager Practice Environment Scale, the Organizational Silence Behavior Scale, and a questionnaire with 16 sociodemographic and job‐related questions, and descriptive statistics, correlations, and regression analyses were used to analyze the data.Results: Nurse managers exhibited acquiescent silence and silence for the protection of the organization. There was a negative correlation between scores on the two scales. Regression analysis showed that nurse managers’ organizational silence was affected by the two subscales of nurse managers’ practice environment and the ability to express opinions openly.Conclusion: Positive work environment and being able to express opinions comfortably decrease the level of organizational silence of nurse managers.Implications for nursing and health policy: In order to reduce organizational silence behaviors, along with open‐door policies and a corporate culture where ideas can be expressed freely, health institutions should implement measures to ensure a positive work environment that empowers administrative leaders to create a culture of patient safety and culture of generativity. Regulating the roles and responsibilities of nurse managers at the institutional level and implementing appropriate nursing laws and regulations at the national level will facilitate changes to improve their management practices.
Are global forests performing in sync? The need to account for spatiotemporal biases in tree‐ring records
Authors: Shestakova Tatiana A. , Camarero Jesús J. , Voltas Jordi 
Published: September 2021

AbstractPopulations whose dynamics are driven by correlated environmental stochasticity face increased risk of extinction. Forests in particular are being pushed to their physiological limits under global change; hence, the analysis of common patterns of tree performance across scales becomes crucial to discern early warning signals and tipping points. Here, we critically evaluate customary and recent approaches for the analysis of time series of radial growth based on simple correlations as measure of direction and signal strength shared by spatially segregated forests (synchrony). By accounting for changes in spatial distribution of populations and temporal coverage of tree‐ring records, we show that growth synchrony has not substantially augmented for the past 150 years across Europe, a continent with high availability of tree‐ring series. We guard against the use of absolute correlations as a metric of synchrony and stress that robust analytical methods should be applied to evaluate synchrony trends when using biased spatiotemporal databases.
Assortative mating for between‐patch dispersal status in a wild bird population: Exploring the role of direct and indirect underlying mechanisms
Authors: Tamin Thibault , Doligez Blandine 
Published: September 2021

AbstractPrevious studies have reported functional integration between dispersal and other phenotypic traits allowing individuals to alleviate dispersal costs, and such associations can affect dispersal evolution in return. In sexually reproducing species, assortative mating according to dispersal can shape the maintenance of such trait associations. Despite the potentially crucial consequences of dispersal in natural populations, assortative mating for dispersal and its underlying mechanisms remain largely unexplored. Here, we assessed assortative mating for between‐patch dispersal status in a fragmented population of a small passerine bird, the collared flycatcher, and explored whether such assortative mating could result from (i) direct mate choice based on dispersal‐related behavioural (aggressiveness and boldness) and morphological traits (tarsus and wing length), (ii) biased mating due to spatio‐temporal heterogeneity in the distribution of dispersal phenotypes and/or (iii) post‐mating adjustment of dispersal phenotype or dispersal‐related traits. We found intrinsic assortative mating (i.e. positive among‐pair correlation) for current dispersal status (in the year of mating) but not for natal dispersal status, even though we could not exclude it due to limited power. We also found assortative mating for boldness and age category (yearlings vs. older adults), and the probability for pair members to be assorted for current dispersal status was higher when both pair members were of similar boldness score and of the same age compared with mixed‐age pairs. Mate choice based on boldness and age thus appears as a possible mechanism underlying assortative mating for dispersal status. Our analyses however remained correlative, and only an experimental manipulation of these traits could allow inferring causal links. Non‐random mating for dispersal‐related traits may affect the evolution of dispersal syndromes in this population. More work is nevertheless needed to fully assess the evolutionary implications of age‐ and behaviour‐based assortative mating for dispersal.
A comparison of passage efficiency for native and exotic fish species over an artificial baffled ramp
Authors: Franklin Paul A. , Baker Cindy F. , Reeve Kathryn A. 
Published: September 2021

ABSTRACTThis study used an experimental approach to compare the passage success of native and exotic fish species from the temperate Southern Hemisphere over an artificial baffled fish ramp designed for overcoming low‐head (≤1.0 m) fish migration barriers. Passage efficiency was, on average, lower for the exotic species [koi carp (Cyprinus carpio), rudd (Scardinius erythrophthalmus) and rainbow trout (Oncorhynchus mykiss)] compared to the native species [inanga (Galaxias maculatus), redfin bully (Gobiomorphus huttoni) and common bully (Gobiomorphus cotidianus)]. Nonetheless, there was considerable variation between individual species, with rainbow trout outperforming common bully and juvenile inanga, but koi carp and rudd failing to pass any of the ramps. The differences in predicted probability of passage success between the native and exotic fish species in this study were sufficient in some cases to indicate the potential for the baffled fish ramps to operate as a selective migration barrier. Nonetheless, further testing is required to validate these results across a broader range of conditions before deployment.