bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cerebellar phenotypes in germline PTEN mutation carriers
Authors: Gambini Donatella , Ferrero Stefano , Bulfamante Gaetano , Pisani Luigi , Corbo Massimo , Kuhn Elisabetta 
Published: March 2024

AbstractPTEN hamartoma tumour syndrome (PHTS) comprises different hereditary conditions caused by germline PTEN mutations, predisposing to the development of multiple hamartomas in many body tissues and also increasing the risk of some types of cancer.Cerebellar involvement in PHTS patients has been long known due to the development of a pathognomonic cerebellar hamartoma (known as dysplastic gangliocytoma of the cerebellum or Lhermitte‐Duclos disease). Recently, a crucial role of the cerebellum has been highlighted in the pathogenesis of autism spectrum disorders, now recognised as a phenotype expressed in a variable percentage of PHTS children. In addition, rare PTEN variants are indeed identified in medulloblastoma as well, even if they are less frequent than other germline gene mutations.The importance of PTEN and its downstream signalling enzymatic pathways, PI3K/AKT/mTOR, has been studied at different levels in both human clinical settings and animal models, not only leading to a better understanding of the pathogenesis of different disorders but, most importantly, to identify potential targets for specific therapies. In particular, PTEN integrity makes an important contribution to the normal development of tissue architecture in the nervous system, including the cerebellum. Thus, in patients with PTEN germline mutations, the cerebellum is an affected organ that is increasingly recognised in different disorders, whereas, in animal models, cerebellar Pten loss causes a variety of functional and histological alterations.In this review, we summarise the range of cerebellar involvement observed in PHTS and its relationships with germline PTEN mutations, along with the phenotypes expressed by murine models with PTEN deficiency in cerebellar tissue.
Imagination as a source of empirical justification
Authors: Myers Joshua 
Published: March 2024

AbstractTraditionally, philosophers have been skeptical that the imagination can justify beliefs about the actual world. After all, how could merely imagining something give you any reason to believe that it is true? However, within the past decade or so, a lively debate has emerged over whether the imagination can justify empirical belief and, if so, how. This paper provides a critical overview of the recent literature on the epistemology of imagination and points to avenues for future research.
Peritoneal Phosphate Clearance: Determinants and Association With Mortality
Authors: Li Jinping , Zhang Wenyu , Wang Xichao , Sun Na , Li Lei , Chang Wenxiu 
Published: March 2024

ABSTRACTBackgroundDialytic phosphate removal is a cornerstone of the management of hyperphosphatemia in peritoneal dialysis (PD) patients, but the influencing factors on peritoneal phosphate clearance (PPC) are incompletely understood. Our objective was to explore clinically relevant factors associated with PPC in patients with different PD modality and peritoneal transport status and the association of PPC with mortality.MethodsThis is a cross‐sectional and prospective observational study. Four hundred eighty‐five PD patients were enrolled and divided into 2 groups according to PPC. All‐cause mortality was evaluated after followed‐up for at least 3 months.ResultsHigh PPC group showed lower mortality compared with Low PPC group by Kaplan–Meier analysis and log‐rank test. Both multivariate linear regression and multivariate logistic regression revealed that high transport status, total effluent dialysate volume per day, continuous ambulatory PD (CAPD), and protein in total effluent dialysate volume appeared to be positively correlated with PPC; body mass index (BMI) and the normalized protein equivalent of total nitrogen appearance (nPNA) were negatively correlated with PPC. Besides PD modality and membrane transport status, total effluent dialysate volume showed a strong relationship with PPC, but the correlation differed among PD modalities.ConclusionsHigher PPC was associated with lower all‐cause mortality risk in PD patients. Higher PPC correlated with CAPD modality, fast transport status, higher effluent dialysate volume and protein content, and with lower BMI and nPNA.
Work-related musculoskeletal disorders in oral health professionals: an umbrella review protocol
Authors: Roby Shiba , Morse Zac , Trevelyan Fiona , Boocock Mark 
Published: March 2024

Objective:
The objective of this review is to synthesize the evidence on the prevalence, incidence, risk factors, and preventive and management interventions for work-related musculoskeletal disorders (MSD) in oral health professionals.

Introduction:
Oral health professionals face a considerable risk of developing work-related MSD due to the nature of their work. These disorders can lead to loss of employment, reduced job quality, increased occupational injuries, and early retirement. They can also lead to significant financial burdens for employers and society.

Inclusion criteria:
This umbrella review will include systematic reviews and meta-analyses that have oral health professionals as a population group and address at least one of the following topics: the prevalence or incidence, risk factors, and the efficiency or effectiveness of interventions for the prevention or management of work-related MSD.

Methods:
A systematic search will be conducted across CINAHL Complete (EBSCOhost), Dentistry and Oral Sciences Source (EBSCOhost), MEDLINE (EBSCOhost), Cochrane Library (Ovid), Scopus, PsycINFO (Ovid), AMED Allied and Complementary Medicine (Ovid), Epistemonikos, Ergonomics Abstracts Online (EBSCOhost), and Google Scholar (first 200 articles). The search will be limited to articles published in English, with no restrictions on geographical location. Two independent reviewers will screen the titles and abstracts against the inclusion criteria. The reviews will be assessed using the JBI critical appraisal instrument for systematic reviews and research syntheses, and data will be extracted from each review using a modified version of the JBI data extraction tool. A narrative summary and tables will be used to describe the review characteristics and findings. Results will be presented in a table using visual indicators (traffic light system) to represent beneficial, neutral, and negative effects with each risk factor and intervention. The GRADE approach will be used to rate the overall quality and strength of the evidence.

Review registration:
PROSPERO CRD42023388779
A New Iterative Broyden Legendre Wavelet Galerkin Finite Element Method Applied to Unsteady State Model of Two-Dimensional Elliptic Fin
Authors: Upadhyay Subrahamanyam , Sharma Priti , Singh Surjan , Rai K. N. 
Published: March 2024

Abstract
The novelty of this paper is the investigation of numerical study of a mathematical model, which deals with time-dependent heat flow in elliptic fin (dry, wet, and partially wet). In this paper, we developed a nonlinear model of second-order heat equations in unsteady state condition. A new iterative Broyden Legendre Wavelet Galerkin Finite Element Method (BLWGFEM) is used for the solution. The central difference approximation used for discretization of second order derivatives and then utilization of Hadamard, Khatri Rao and Face splitting matrices product with Legendre Wavelet Galerkin Method transfers our main problem into system of nonlinear algebraic equations. The iterative Broyden Method provides the solution for this system. In a particular case, present solution is compared with the exact solution and is approximately the same. Effect of different parameters such as Biot number, Latent heat, Kirpichev number, Fin thickness, Axis ratio, μ, η, and ξ on the temperature distribution are discussed in detail.
Effects of Flow Pulsation and Surface Geometry on Heat Transfer Performance in a Channel With Teardrop-Shaped Dimples Measured by Transient Technique
Authors: Kobayashi Shimpei , Inokuma Kento , Murata Akira , Iwamoto Kaoru 
Published: March 2024

Abstract
This study focuses on the heat transfer performance of a pulsating flow over a channel surface with teardrop-shaped dimples. Heat transfer measurements were performed by a transient technique with compensation of three-dimensional heat conduction under a bulk Reynolds number of 25,000. Seven types of surfaces with the teardrop-shaped dimples were examined, where dimple arrangement (in-line/staggered) and inclination angle (0–60 deg) were varied. A pulsating flow with the Strouhal number of 0.15 was generated by vibrating a rubber film section on the channel wall using a vibration generator. The pulsation amplitude was evaluated by calculating the root-mean-square value of the phase averaged velocity. Two conditions of the pulsation amplitudes were examined (0.09 and 0.12 of mean velocity). The results showed that the surface-averaged Nusselt number and friction factor for the pulsating flow increased from those for the steady flow. The highest increases of the surface-averaged Nusselt number and heat transfer efficiency index appeared in the 30 deg in-line arrangement, and those were 16.1% and 9.8%, respectively, at most as compared with the steady case. Due to the flow pulsation, the local Nusselt number was enhanced at the leading-edge region of the dimples, and supplementary Reynolds averaged Navier–Stokes (RANS)/unsteady RANS (URANS) results showed that the flow separation size was shrunk by the flow pulsation there.
Outbreak of NDM-5-producing
Klebsiella pneumoniae
ST307: an emerging high-risk antimicrobial resistance clone in Shanghai, China
Authors: Zhu Junying , Wang Guangyu , Li Min 
Published: March 2024

ABSTRACT

The high-risk clone
Klebsiella pneumoniae
ST307, associated with various carbapenem resistance genes, exhibits a global distribution and prevalence. However, in China, it has remained sporadic and has rarely been detected. In this study, we reported an outbreak caused by nine ST307 CRKP isolates harboring
bla
NDM-5
in Shanghai, China, in 2022. We employed antimicrobial susceptibility testing, conjugation assay, whole-genome sequencing (WGS) and comparative genomics, phylogenetic analysis, and fitness and virulence comparison to further characterize the isolates causing the outbreak. Besides
bla
NDM-5
, these nine isolates co-carried
bla
CTX-M-15
and
bla
DHA-1
, exhibiting nearly identical resistance profiles with high-level resistance to carbapenems and ceftazidime/avibactam, while showing susceptibility to colistin and tigecycline.
bla
NDM-5
was located on an IncX3 plasmid of 45,403 bp with a high frequency of conjugative ability. Phylogenetic and single-nucleotide polymorphism (SNP) analysis indicated the nature of clonal transmission with a maximum of five SNPs between these nine isolates, and they were closely related to strains obtained from the United States. ST307 isolates in our study showed a relatively lower virulence but higher growth rates and certain adaptability compared with ST11 isolates. Clinical investigation revealed that shared nursing staff in a mixed emergency intensive care unit ward and doctors’ movement between wards might be responsible for the outbreak. The nonexistence before and sudden emergence of ST307 suggested that the currently circulating ST307 clone was a newly introduced superbug in our hospital. In conclusion, we revealed that
bla
NDM-5
-producing ST307 CRKP isolates, a globally significant high-risk clone, are spreading in China, posing a substantial threat to public health.

IMPORTANCE

The high-risk clone ST307, associated with various carbapenemases, including KPC, NDM, and OXA, has a global distribution. However, it is rarely reported in China, let alone causing outbreaks. Here, we found an outbreak caused by the clonal transmission of nine ST307 CRKP isolates. Clinical investigation revealed that shared nurses in a mixed emergency intensive care unit ward and doctors’ movement between wards might be responsible for the outbreak. In our study, the nine NDM-5-producing ST307 isolates exhibited high-level resistance to carbapenems and ceftazidime-avibactam, high conjugative ability to
Escherichia coli
J53, and certain adaptability to environment, phylogenetically closet to the United States. All these features make ST307 clone the next successful clone comparable to ST11 clone in China. Therefore, it is imperative for us to vigilantly monitor the prevalence of carbapenem-resistant
Klebsiella pneumoniae
and promptly implement measures to control the spread of
K. pneumoniae
ST307 in China.
Preterm prelabour rupture of membranes before 23 weeks’ gestation: prospective observational study
Authors: Goodfellow Laura , Care Angharad , Curran Ciara , Roberts Devender , Turner Mark A , Knight Marian , Zarko Alfirevic 
Published: March 2024

ObjectiveTo describe perinatal and maternal outcomes of preterm prelabour rupture of membranes (PPROM) before 23 weeks' gestation in a national cohort.DesignProspective observational study.SettingNational population based cohort study with the UK Obstetric Surveillance System (UKOSS), a research infrastructure of all 194 obstetric units in the UK, 1 September 2019 to 28 February 2021.Participants326 women with singleton and 38 with multiple pregnancies with PPROM between 16+0 and 22+6 weeks+days' gestation.Main outcome measuresPerinatal outcomes of live birth, survival to discharge from hospital, and severe morbidity, defined as intraventricular haemorrhage grade 3 or 4, or requiring supplemental oxygen at 36 weeks' postmenstrual age, or both. Maternal outcomes were surgery for removal of the placenta, sepsis, admission to an intensive treatment unit, and death. Clinical data included rates of termination of pregnancy for medical reasons.ResultsPerinatal outcomes were calculated with all terminations of pregnancy for medical reasons excluded, and a worst-best range was calculated assuming that all terminations for medical reasons and those with missing data would have died (minimum value) or all would be liveborn (maximum value). For singleton pregnancies, the live birth rate was 44% (98/223), range 30-62% (98/326-201/326), perinatal survival to discharge from hospital was 26% (54/207), range 17-53% (54/326-173/326), and 18% (38/207), range 12-48% (38/326-157/326) of babies survived without severe morbidity. The rate of maternal sepsis was 12% (39/326) in singleton and 29% (11/38) in multiple pregnancies (P=0.004). Surgery for removal of the placenta was needed in 20% (65/326) and 16% (6/38) of singleton and twin pregnancies, respectively. Five women became severely unwell with sepsis; two died and another three required care in the intensive treatment unit.ConclusionsIn this study, 26% of women who had very early PPROM with expectant management had babies that survived to discharge from hospital. Morbidity and mortality rates were high for both mothers and neonates. Maternal sepsis is a considerable risk that needs more research. These data should be used in counselling families with PPROM before 23 weeks' gestation, and currently available guidelines should be updated accordingly.
Tracing Tomorrow: young people’s preferences and values related to use of personal sensing to predict mental health, using a digital game methodology
Authors: Pavarini Gabriela , Lyreskog David M , Newby Danielle , Lorimer Jessica , Bennett Vanessa , Jacobs Edward , Winchester Laura , Nevado-Holgado Alejo , Singh Ilina 
Published: March 2024

BackgroundUse of personal sensing to predict mental health risk has sparked interest in adolescent psychiatry, offering a potential tool for targeted early intervention.ObjectivesWe investigated the preferences and values of UK adolescents with regard to use of digital sensing information, including social media and internet searching behaviour. We also investigated the impact of risk information on adolescents’ self-understanding.MethodsFollowing a Design Bioethics approach, we created and disseminated a purpose-built digital game (www.tracingtomorrow.org) that immersed the player-character in a fictional scenario in which they received a risk assessment for depression Data were collected through game choices across relevant scenarios, with decision-making supported through clickable information points.FindingsThe game was played by 7337 UK adolescents aged 16–18 years. Most participants were willing to personally communicate mental health risk information to their parents or best friend. The acceptability of school involvement in risk predictions based on digital traces was mixed, due mainly to privacy concerns. Most participants indicated that risk information could negatively impact their academic self-understanding. Participants overwhelmingly preferred individual face-to-face over digital options for support.ConclusionsThe potential of digital phenotyping in supporting early intervention in mental health can only be fulfilled if data are collected, communicated and actioned in ways that are trustworthy, relevant and acceptable to young people.Clinical implicationsTo minimise the risk of ethical harms in real-world applications of preventive psychiatric technologies, it is essential to investigate young people’s values and preferences as part of design and implementation processes.
Exploring the barriers to, and importance of, participant diversity in early-phase clinical trials: an interview-based qualitative study of professionals and patient and public representatives
Authors: Chatters Robin , Dimairo Munyaradzi , Cooper Cindy , Ditta Shamila , Woodward Jonathan , Biggs Katie , Ogunleye Della , Thistlethwaite Fiona , Yap Christina , Rothman Alexander 
Published: March 2024

ObjectivesTo explore the importance of, and barriers to achieving, diversity in early-phase clinical trials.DesignQualitative interviews analysed using thematic analysis.Setting and participantsFive professionals (clinical researchers and methodologists) and three patient and public representatives (those with experience of early-phase clinical trials and/or those from ethnic minority backgrounds) were interviewed between June and August 2022. Participants were identified via their institutional web page, existing contacts or social media (eg, X, formerly known as Twitter).ResultsProfessionals viewed that diversity is not currently considered in all early-phase clinical trials but felt that it should always be taken into account. Such trials are primarily undertaken at a small number of centres, thus limiting the populations they can access. Referrals from clinicians based in the community may increase diversity; however, those referred are often not from underserved groups. Referrals may be hindered by the extra resources required to approach and recruit underserved groups and participants often having to undertake ‘self-driven’ referrals. Patient and public representatives stated that diversity is important in research staff and that potential participants should be informed of the need for diversity. Those from underserved groups may require clarification regarding the potential harms of a treatment, even if these are unknown. Education may improve awareness and perception of early-phase clinical trials. We provide 14 recommendations to improve diversity in early-phase clinical trials.ConclusionsDiversity should be considered in all early-phase trials. Consideration is required regarding the extent of diversity and how it is addressed. The increased resources needed to recruit those from underserved groups may warrant funders to increase the funds to support the recruitment of such participants. The potential harms and societal benefits of the research should be presented to potential participants in a balanced but accurate way to increase transparency.
What Matters to Aboriginal and Torres Strait Islander Youth (WM2Y): a study protocol to develop a national youth well-being measure
Authors: Garvey Gail , Howard Kirsten , Garvey Darren , Dickson Michelle , Howell M , Butler Tamara L , Cadet-James Yvonne , Cunningham Joan , Bainbridge Roxanne , McGorry Patrick , Williamson A , Anderson Kate Mallory 
Published: March 2024

IntroductionAdolescents face challenges associated with unprecedented environmental, social and technological changes. The impacts of colonisation, intergenerational trauma, racism and socioeconomic disadvantage intensify these challenges for many Aboriginal and Torres Strait Islander adolescents. However, Aboriginal and Torres Strait Islander adolescents also have cultural, spiritual, family and community capital that fosters their well-being.To date, little research has focused on understanding and appropriately measuring the well-being of Aboriginal and Torres Strait Islander adolescents, a pivotal factor in informing and guiding programmes and interventions that support them. This study will identify the domains of well-being and develop a new preference-based well-being measure based on the values and preferences of Aboriginal and Torres Strait Islander youth (aged 12–17 years).Methods and analysisThis project will be conducted across three research phases: (1) qualitative exploration of well-being using PhotoYarning and yarns with adult mentors to develop candidate items; (2) Think Aloud study, quantitative survey, psychometric analysis, validity testing of candidate items and finalisation of the descriptive system; and (3) scoring development using a quantitative preference-based approach. A multinomial (conditional) logit framework will be used to analyse responses and generate a scoring algorithm for the new preference-based well-being measure.Ethics and disseminationEthics approvals have been obtained from: the Human Research Ethics Committees for each state and territory where data are being collected, the institutions where the research is being conducted and from the relevant Departments of Education. The new well-being measure will have wide applicability and can be used in assessing the effectiveness of programmes and services. This new national measure will ensure benefit and positive impact through the ability to identify and measure the aspects of well-being important to and valued by Aboriginal and Torres Strait Islander youth. Results will be published in international peer-reviewed journals and presented at conferences, and summaries will be provided to the study partner organisations and other relevant organisations.