bluuebunny/crossref_metadata_2025_split huggingface dataset:
“I am not a number!” Opinions and preferences of people with intellectual disability about genomic healthcare.
Authors: Palmer Elizabeth , Danker Joanne , Strnadová Iva , Loblinzk Julie , Jackaman Karen-Maia , Scully Jackie Leach ,   Sierra Classen Sierra Classen1, Dunn Manjekah , Sarfaraz Skie , Tso Michelle , Boyle Jackie , Fitzgerald Vanessa 
Published: October 2022

Abstract

There is limited research exploring the knowledge and experiences of genomic healthcare from the perspective of people with intellectual disability. This study, conducted in New South Wales (Australia), addresses this gap. Eighteen adults with intellectual disability and eight support people were interviewed in this inclusive research study. The transcribed interviews were analysed using inductive content analysis. Five main themes emerged: (i) access to genomic healthcare services is inequitable, with several barriers to the informed consent process; (ii) the experiences and opinions of people with intellectual disability are variable, with some feeling frustrated, excluded and frightened; (ii) genomic counselling and diagnoses can be profoundly impactful, but many faced barriers translating a genomic diagnosis into tailored healthcare, appropriate support, peer connections and reproductive planning; (iv) people with intellectual disability have a high incidence of exposure to trauma and can find genomic healthcare emotionally triggering; (v) recommendations for a more respectful and inclusive model of genomic healthcare. Co-designed point-of-care educational and consent resources accompanied by tailored professional education for healthcare providers are required to improve the equity and appropriateness of genomic healthcare for people with intellectual disability.
Comparison of the therapeutic effects between stem cells and exosomes in primary ovarian insufficiency
Authors: Park Hang-soo , Chugh Rishi Man , Seok Jin , Cetin Esra , Mohammed Hanaa , Siblini Hiba , Ali Farzana Liakath , Ghasroldasht Mohammad Mousaei , Alkelani Hiba , Elsharoud Amro , Ulin Mara , Esfandyari Sahar , Al-Hendy Ayman 
Published: October 2022

Abstract

Background:Primary ovarian insufficiency (POI) refers to the loss of ovarian function under the age of 40 and resultsin amenorrhea and infertility. Our previous studies have shown that transplantation of mesenchymal stem cells (MSCs) and MSC-derived exosomesin chemotherapy-induced POI mouse ovaries can reverse the POI and eventually achieve pregnancy. Based on our recent studies, MSC-derived exosomeshave almost equal therapeutic potentials as transplanted MSCs. However, it is still unclear whether exosomes can completely replace MSCs in POI treatment. For the reliable application of cell-free treatment for POI patients using exosomes, there is a need to understand whetherthere is any outcome and effectiveness differencebetween MSC and MSC-derived exosome treatment.Methods:Comparing the therapeutic effect of intravenous injection using MSCs and equal amountsof exosomesin aPOI mouse model will reveal the differencebetween the two therapeutic resources. In this study, we induced POI in C57/BL6 mice by chemotherapy (CXT) using a standard protocol. We then injected four different doses of MSCs or equal amountsof commercialized MSC-derived exosomesby retro-orbital injection post-CXT.Result:After MSC/exosome treatment, tissue and serum samples were harvested to analyze molecular changes after treatment,while other mice in parallel experiments underwent breeding experimentsto compare the restoration of fertility. Both the MSC- and exosome-treated groups had a restored estrous cycle and serum hormone levelscompared to untreated POI mice. The pregnancy rate in the MSC-treated group was 60% to 100% after treatment, while thepregnancy rate in the exosome-treated group was 30% to 50% after treatment. Interestingly, in terms oflong-term effects, MSC-treated mice still showed a 60% to 80% pregnancy rate in the second round of breeding, while the exosome-treated group became infertile again inthe second roundof breeding.Conclusions:Although there were some differences in the efficacy between MSC treatment and exosome treatment, both treatments were able to achieve pregnancy in the POI mouse model. In conclusion, we report that MSC-derived exosomes are apromising therapeutic option to restore ovarian function in POI conditions similar to treatment with MSCs.
Challenges and opportunities for conducting pre-hospital trauma trials: a behavioural investigation
Authors: Lawrie Louisa , Duncan Eilidh M. , Lendrum Robert , Lebrec Victoria , Gillies Katie 
Published: October 2022

Abstract
Background: Trials in pre-hospital trauma care are relatively uncommon. There are logistical and methodological challenges related to designing and delivering trials in this setting. Previous studies have assessed challenges reported in individual trials rather than across the pre-hospital trial landscape to identify over-arching factors. The aim of this study was to investigate the challenges and opportunities related to the set-up, design and conduct of pre-hospital trauma trials.
Methods: Semi-structured interviews were conducted with research personnel who had experience of pre-hospital trials, either through direct involvement in conduct or through strategic oversight of national initiatives (n = 7), and clinical staff (n = 16) involved in recruitment to a pre-hospital trauma feasibility study. Thematic analyses were used to assess the barriers and enablers of conducting pre-hospital trauma trials. Two frameworks (The Capability Opportunity Motivation - Behaviour and the Theoretical Domains Framework) were used to guide analyses.
Results: The barriers and enablers reported were relevant to several TDF domains and COM-B components. Across both cohorts, challenges reported included the lack of research experience amongst pre-hospital staff, team dynamics within a rotating shift schedule (COM-B Physical and Social Opportunities, TDF Environmental Context & Resources and Social Influences), and the involvement of external organisations with diverse institutional priorities and infrastructures (e.g. Air Ambulances). The infrequency of eligible cases was also reported to affect trial design, set-up, and conduct (TDF Environmental Context & Resources). Other barriers reported related to clinical equipoise amongst staff and institutional pressures, which affected motivation (COM-B Reflective Motivation and TDF Beliefs about consequences).
Conclusions: This study has highlighted that pre-hospital trials face many context specific but also generic challenges. Pre-hospital trauma trial teams could consider the findings to develop targeted, behaviourally focused, solutions to the challenges identified in order to enhance the set-up and conduct of trials in this setting.
Trial registration: NCT04145271.
Feasibility of a team-based person-centred intervention for patients at risk of or diagnosed with COPD in general practice – a qualitative inquiry
Authors: Kolltveit Beate-Christin Hope , Graue Marit , Borge Christine Råheim , Frisk Bente 
Published: October 2022

Abstract
Background
Symptoms and complications of chronic obstructive pulmonary disease (COPD) can affect daily activities and quality of life, and patients with COPD require long-term follow-up by their general practitioner (GP). Providing patients with or at risk of COPD practical skills and motivation to improve their self-management is important. On this background, we designed an interdisciplinary follow-up programme based on the Guided Self-Determination (GSD) counselling method to facilitate problem-solving and mutual decision-making between healthcare professionals and patients. The aim of the study was to explore patients and healthcare professionals` experiences with the GSD-program.
Methods
Thirteen patients with COPD (mean age 71.7±7.7 years) four were current smokers, and seven at risk of COPD (mean age 54.1±9.9 years) all current smokers, received the GSD follow-up program. The intervention consisted of structured consultations with the nurse and patient in collaboration with the GP at baseline and after 3, 6 and 12 months. The GSD comprised facilitation of a mutual reflection process between the patient and the nurse to enhance self-management skills. Each consultation lasted for 60 minutes. We performed individual interviews after the 12-months GSD-program with two patients at risk of COPD, four patients with COPD, three nurses, and five GPs. The interviews were analysed using thematic analyses.
Results
We identified two themes: 1) A structured follow-up is challenging but motivating. 2) A counselling method that opens for conversation, but it requires resources.
At 12-month follow-up, three with COPD and six in the risk group had quit smoking.
Conclusions
People with or at risk of COPD may benefit from the GSD method with a structured team-based follow-up in general practice. Our findings indicated that the GSD method gave the patients better self-management strategies. The regularity of the follow-up seemed to be important to succeed to help the patients making lifestyle changes to improve health benefits. However, the GSD was experienced as time consuming among the GPs and nurses, and there are currently no available financial rates for this type of treatment in Norway which may be a barrier to further implementation.
The trial is registered in ClinicalTrials.gov (ID: NCT04076384).
Tissue transglutaminase exacerbates renal fibrosis via alternative activation of monocyte-derived macrophages
Authors: Shinoda Yoshiki , Tatsukawa Hideki , Yonaga Atsushi , Wakita Ryosuke , Takeuchi Taishu , Tsuji Tokuji , Tanaka Miyako , Suganami Takayoshi , Hitomi Kiyotaka 
Published: October 2022

Abstract
Macrophages are important components in modulating homeostatic and inflammatory responses and are generally categorized into two broad but distinct subsets: classical activated (M1) and alternatively activated (M2) depending on the microenvironment. Fibrosis is a chronic inflammatory disease exacerbated by M2 macrophages, although the detailed mechanism by which M2 macrophage polarization is regulated remains unclear. These polarization mechanisms have little in common between mice and humans, making it difficult to adapt research results obtained in mice to human diseases. Tissue transglutaminase (TG2) is a known marker common to mouse and human M2 macrophages and is a multifunctional enzyme responsible for crosslinking reactions. Here we sought to identify the role of TG2 in macrophage polarization and fibrosis. In IL-4-treated macrophages derived from mouse bone marrow and human monocyte cells, the expression of TG2 was increased with enhancement of M2 macrophage markers, whereas knockout or inhibitor treatment of TG2 markedly suppressed M2 macrophage polarization. In the renal fibrosis model, accumulation of M2 macrophages in fibrotic kidney was significantly reduced in TG2 knockout or inhibitor-administrated mice, along with the resolution of fibrosis. Bone marrow transplantation using TG2-knockout mice revealed that TG2 is involved in M2 polarization of infiltrating macrophages derived from circulating monocytes and exacerbates renal fibrosis. Furthermore, the suppression of renal fibrosis in TG2-knockout mice was abolished by transplantation of wild-type bone marrow or by renal subcapsular injection of IL4-treated macrophages derived from bone marrow of wild-type, but not TG2 knockout. Transcriptome analysis of downstream targets involved in M2 macrophages polarization revealed that ALOX15 expression was enhanced by TG2 activation and promoted M2 macrophage polarization. Furthermore, the increase in the abundance of ALOX15-expressing macrophages in fibrotic kidney was dramatically suppressed in TG2-knockout mice. These findings demonstrated that TG2 activity exacerbates renal fibrosis by polarization of M2 macrophages from monocytes via ALOX15.
Plasmodium falciparum gametocyte production in longitudinally monitored incident infections is associated with duration of infection and human host factors
Authors: Andolina Chiara , Ramjith Jordache , Rek John , Lanke Kjerstin , Okoth Joseph , Grignard Lynn , Arinaitwe Emmanuel , Briggs Jessica , Bailey Jeffrey , Aydemir Ozkan , Kamya Moses R , Greenhouse Bryan , Dorsey Grant , Staedke Sarah G , Drakeley Chris , Jonker Marianne , Bousema Teun 
Published: October 2022

Abstract
Malaria transmission depends on the presence of Plasmodium gametocytes that are the only parasite life stage that can infect mosquitoes. Gametocyte production varies between infections and over the course of infections. Infection duration is highly important for gametocyte production but poorly quantified. Between 2017–2019 an all-age cohort of individuals from Tororo, eastern Uganda was followed by continuous passive and routine assessments. We longitudinally monitored 104 incident infections from 98 individuals. Among infections that lasted ≥ 3 months, gametocyte production was near-universal with 96% of infections producing gametocytes prior to clearance. However, most infections were of much shorter duration; 55.7% of asymptomatic infections were detected only once. When considering all asymptomatic infections, regardless of their duration, only 36.3% initiated gametocyte production prior to clearance. Infections in individuals with sickle-cell trait (HbAS) were more likely to produce gametocytes (Hazard Rate (HR) = 2.68, 95% CI: 1.12, 6.38; p = 0.0231) and produced gametocytes at higher densities (Density Ratio (DR) = 9.19, 95% CI: 2.79–30.23; p = 0.0002) compared to wildtype (HbAA) individuals. Our findings suggest that a large proportion of incident infections is too short in duration and of too low density to contribute to onward transmission.
The mediating effect of coping styles between self-compassion and body image disturbance in young breast cancer survivors: A cross-sectional study
Authors: Zhu Fei , Liu Chunlei , Zhang Wan , Qiang Wanmin , Yin Xiaoping , Lu Qian 
Published: October 2022

Abstract
Background: Young breast cancer survivors with body image disturbance have poor quality of life. Self-compassion and different coping styles can influence their body image. The purpose of the study was to investigate the relationship between self-compassion, coping styles, and body image disturbance, and examined the mediation role of coping styles between self-compassion and body image disturbance among young breast cancer survivors in China.
Methods: In the cross-sectional study, a total of 310 young women with breast cancer were assessed on self-compassion, coping styles, and body image disturbance by self-reported questionnaires in China. Spearman’s correlation was used to test the links between variables and to verify the indirect effects between variables by constructing a structural equation model.
Results: There were correlations between self-compassion, different coping styles, and body image disturbance. Confrontation, avoidance, and acceptance-resignationcoping had significant mediation effects on the association between self-compassion and body image disturbance. The mediation effects of confrontation coping were greater than avoidance, and acceptance-resignation coping.
Conclusions: In this study, different coping styles acted as mediators between self-compassion and body image disturbance, providing support for further understanding the mechanism between self-compassion and body image disturbance, and developing comprehensive interventions for body image disturbance. Oncology nurses should pay attention to the breast cancer survivors’ self-compassion and coping styles and encourage them to adopt adaptive coping strategies, which can reduce body image disturbance.
Ionic liquid dynamics and electrical conductivity under confinement within micro and nanocellulose ionogels
Authors: Kowalczuk Joanna , Bielejewski Michał , Tritt-Goc Jadwiga 
Published: October 2022

Abstract
To investigate the effect of cellulose matrix on the diffusion and conductivity properties of the ionogels formed with the BMIMCl ionic liquid (IL), two types of samples were made with micro (CMC) and nano (CNC) cellulose. The cellulose interactions with IL were studied by 1H and 13C NMR solid-state spectroscopy. The cation [BMIM] + self-diffusion coefficient was calculated based on Fast Field Cycling 1H NMR relaxation measurements. The ionic conductivity was measured by the thermal scanning conductometry method. The NMR spectra at room temperature revealed that cation in the CNC-based ionogel interacts more strongly with the cellulose chain than in the CMC-based ionogel through the methyl group at the end of the alkyl chain. Despite this, the cellulose matrix's influence on the cations' dynamics and electrical conductivity are comparable in both ionogels. The diffusion coefficient is reduced by about two times and the conductivity by about 30% compared with bulk IL.
An operationally broadened alkaline water electrolyser enabled by highly stable poly(oxindole biphenylene) ion-solvating membranes
Authors: Hu Xu , Hu Bin , Liu Min , Tao Huabing , Huang Yingda , Kang Shuanyan , Geng Kang , Li Nanwen 
Published: October 2022

Abstract
Advanced water electrolysers represent a new direction in the field of low-cost green hydrogen production. However, the high cost of precious metal-catalysts in proton-exchange-membranes electrolysers, the high gas permeation of porous diaphragms and the alkaline instability at elevated temperatures (< 60°C) of anion-exchange-membranes in alkaline electrolysers remarkably limit their operational flexibility. Here, we demonstrate a different class of alkaline-water-electrolyser based on highly-stable oxindole/KOH complex ion pairs in poly(oxindole biphenylene) ion-solvating-membranes that can bridge the gap in existing water electrolysis technologies by enabling the use of non-precious metal-catalysts (Ni, Ni/Fe) and broadening operation temperature range (-35 ~ 120°C), in combination with ultralow gas permeation and thus low-transient-response times (< 1 s). These ISMs exhibit inspiring alkaline stability at 80°C with a negligible conductivity decay of more than 15000 h and thus allow durable alkaline electrolysis over 2500 h even at elevated temperatures and high operating voltages of 2.3 V.
Effect of Stochastic Model Error on the Convergence and Accuracy of Markov Chains
Authors: Yao Mandy , Estep Donald 
Published: October 2022

Abstract
We derive conditions that guarantee the stability of Markov Chains in the presence of stochastic model error. To do this, we adapt existing theory on the convergence of perturbed stable Markov Chains under “round off” errors associated with finite precision on computers. We apply the results to Markov Chain Monte Carlo (MCMC) algorithms used to construct a stochastic process whose limiting distribution is the unknown distribution of interest in a given problem. In practice, errors in the computer simulations affect convergence of MCMC computations, which we analyze in this paper. We also model the error of perturbed MCMC samples using a time series approach.
MSC Classification: 60J05, 62F99, 62M05
AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of Acute Mountain Sickness.
Authors: Xu Zhichao , Li Qiong , Shen Xiaobing 
Published: October 2022

Abstract
Background
Acute Mountain Sickness (AMS) is one of the diseases that predispose to sudden ascent to high altitudes above 2500 meters. Among the many studies on the occurrence and development of AMS, there are few studies on the severity of AMS. Some unidentified phenotypes or genes that determine the severity of AMS may be vital to elucidating the mechanisms of AMS. This study aimed to explore essential candidate genes and phenotypes for moderate-to-severe AMS to provide evidence for a better understanding of the mechanisms of AMS.
Methods
Nineteen subjects from GSE103927 dataset (Downloaded from the Gene Expression Omnibus database) were classified as having moderate to severe AMS (MS-AMS) and mild or no AMS (NM-AMS) based on the Lake Louise score (LLS). Various bioinformatics analyses, such as weighted gene co-expression network analysis (WGCNA), differentially expressed genes screening, and ROC curves were used to compare the differences between the two groups. Another dataset in the GEO database and Real-time quantitative PCR (RT-qPCR) was used to validate the analysis results.
Result
No statistically significant differences in phenotypic and clinical data existed between the MS-AMS and NM-AMS groups. WGCNA revealed 530 genes associated with LLS. Three hundred sixty-eight differentially expressed genes between the two groups. Eight differential genes are associated with LLS, and their biological functions are related regulating of the apoptotic process and programmed cell death. The ROC curves showed that FAM86B3P, AZU1, and PRKCG had a better predictive performance for MS-AMS. The transcript levels of AZU1 and PRKCG were significantly higher in the MS-AMS group compared to the NM-AMS group, a result validated by another dataset. RT-qPCR showed that the transcript levels of AZU1 and PRKCG were elevated in BEAS-2B cells after hypobaric hypoxia treatment. AZU1 and PRKCG were enriched in the Neutrophil extracellular trap formation pathway, suggesting the importance of this pathway in influencing the severity of AMS.
Conclusion
AZU1 and PRKCG were finally identified as the candidate genes affecting AMS severity. AZU1 and PRKCG may affect the severity of AMS by influencing lung endothelial cell permeability through the Neutrophil extracellular trap formation pathway. Our study provides a new perspective to explore the molecular mechanism of AMS, and inhibiting or targeting these genes may help high altitude acclimation and reduce the occurrence of AMS or moderate to severe AMS.
Body height estimation from automated length measurements on standing long leg radiographs using artificial intelligence
Authors: Simon Sebastian , Fischer Barbara , Rinner Alexandra , Hummer Allan , Frank Bernhard JH. , Mitterer Jennyfer A. , Huber Stephanie , Aichmair Alexander , Schwarz Gilbert M. , Hofstaetter Jochen G. 
Published: October 2022

Abstract
Artificial-intelligence (AI) allows large scale analyses of long-leg-radiographs (LLRs). We use this technology to derive an update for the classical regression formulae by Trotter and Gleser and Bass, which are frequently used to infer stature based on long-bone measurements. We analyzed calibrated, standing LLRs from 4,200 participants taken between 2015 and 2020. Automated landmark placement was conducted using the AI-algorithm LAMA™ and the measurements were used to determine femoral, tibial and total leg-length. Linear regression equations were subsequently derived for stature estimation. The estimated regression equations have a shallower slope and larger intercept in males and females (Femur-male: slope = 2.08, intercept = 77.49; Femur-female: slope = 1.9, intercept = 79.81) compared to the formulas previously derived by Trotter and Gleser (Femur-male: slope = 2.38, intercept = 61.41) and Bass (Femur-male: slope = 2.32, intercept = 65.53; Femur-female: slope = 2.47, intercept = 54.13). All long-bone measurements showed a high correlation (r ≥ 0.76) with stature. The linear equations we derived tended to overestimate stature in short persons and underestimate stature in tall persons. In this study, an updated regression formulae for stature estimation was established. The differences in slopes and intercepts may result from an ongoing secular increase in stature. Our study illustrates that AI-algorithms are a promising new tool enabling large scale measurements.