bluuebunny/crossref_metadata_2025_split huggingface dataset:
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Authors: Sagath Lydia , Kiiski Kirsi , Naidu Kireshnee , Patel Krutik , Jonson Per Harald , Laarne Milla , Djordjevic Djurdja , Yoon Grace , LaGroon Anna , Rogers Curtis , Galindo Maureen Kelly , Scherer Katalin , Kunstmann Erdmute , Koparir Erkan , Ho Desirée , Davis Mark , Joshi Purwa , Zygmunt Alexander , Orbach Rotem , Donkervoort Sandra , Bönnemann Carsten G. , Savarese Marco , Echaniz-Laguna Andoni , Biancalana Valérie , Genetti Casie A. , Iannaccone Susan T. , Beggs Alan H. , Wallgren-Pettersson Carina , Henning Franclo , Pelin Katarina , Lehtokari Vilma-Lotta 
Published: October 2024

AbstractIntroductionStructural variants (SVs) of the nebulin gene (NEB), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs inNEB.MethodsUsing custom Comparative Genomic Hybridization arrays, exome sequencing, short-read genome sequencing, custom Droplet Digital PCR, or Sanger sequencing, we identified pathogenic SVs in 35 families withNEB-related myopathies.ResultsIn 23 families, recessive intragenic deletions and duplications or pathogenic gains of the triplicate region segregating with the disease in compound heterozygous form, together with a small variant in trans, were identified. In two families the SV was, however, homozygous. Eight families have not been described previously. In 12 families with a distal myopathy phenotype, eight unique, large deletions encompassing 52 to 97 exons in either heterozygous (n = 10) or mosaic (n = 2) state were identified.In the families where inheritance was recessive, no correlation could be made between the types of variants and the severity of the disease. In contrast, all patients with large dominant deletions inNEBhad milder, predominantly distal muscle weakness.DiscussionFor the first time, we establish a clear and statistically significant association between largeNEBdeletions and a form of distal myopathy. In addition, we provide the hitherto largest overview of the spectrum of SVs inNEB.
Assessing Real-Life Food Consumption in Hospital with an Automatic Image Recognition Device: a pilot study
Authors: Albaladejo Laura , Giai Joris , Deronne Cyril , Baude Romain , Bosson Jean-Luc , Bétry Cécile 
Published: October 2024

AbstractBackground and aimsAccurate dietary intake assessment is essential for nutritional care in hospitals, yet it is time-consuming for caregivers and therefore not routinely performed. Recent advancements in artificial intelligence (AI) offer promising opportunities to streamline this process. This study aimed to evaluate the feasibility of using an AI-based image recognition prototype, developed through machine learning algorithms, to automate dietary intake assessment within the hospital catering context.MethodsData were collected from inpatient meals in a hospital ward. The study was divided in two phases: the first one focused on data annotation and algorithm’s development, while the second one was dedicated to algorithm’s improvement and testing. Six different dishes were analyzed with their components grouped into three categories: starches, animal protein sources, and vegetables. Manual weighing (MAN) was used as the reference method, while the AI-based prototype (PRO) automatically estimated component weights. Lin’s concordance correlation coefficients (CCC) were calculated to assess agreement between PRO and MAN. Linear regression models were applied to estimate measurement differences between PRO and MAN for each category and their associated 95% confidence intervals.ResultsA total of 246 components were used for data annotation and 368 for testing. CCC values between PRO and MAN were: animal protein sources (n= 114; CCC = 0.845, 95% CI: 0.787-0.888), starches (n= 219; CCC = 0.957, 95% CI: 0.945-0.965), and vegetables (n=35; CCC = 0.767, 95% CI: 0.604-0.868). Mean differences between PRO and MAN measurements were estimated at -12.01g (CI 95% -15.3, -8,7) for starches (reference category), 1.19 g (CI 95% -3.2, 5.6) for animal protein sources, and -14.85 (CI 95% -22.1, -7.58) for vegetables.ConclusionThis pilot study demonstrates the feasibility of utilizing an AI-based system to accurately assess food types and portions in a hospital setting, offering potential for routine use in clinical nutrition practices.
Regulatory mechanism of TRIM21 in sepsis‐induced acute lung injury by promoting IRF1 ubiquitination
Authors: Ma Wenjie , Zheng Jie , Wu Bin , Wang Meitang , Kang Zhoujun 
Published: October 2024

AbstractSepsis‐induced acute lung injury (ALI) is characterized by inflammatory damage to pulmonary endothelial and epithelial cells. The aim of this study is to probe the significance and mechanism of tripartite motif‐containing protein 21 (TRIM21) in sepsis‐induced ALI. The sepsis‐induced ALI mouse model was established by cecum ligation and puncture. The mice were infected with lentivirus and treated with proteasome inhibitor MG132. The lung respiratory damage, levels of interleukin‐6 (IL‐6), tumour necrosis factor α (TNF‐α), IL‐10 and pathological changes were observed. The expression levels of TRIM21, interferon regulatory factors 1 (IRF1) and triggering receptor expressed on myeloid cells 2 (TREM2) were measured and their interactions were analysed. The ubiquitination level of IRF1 was detected. TRIM21 and TREM2 were downregulated and IRF1 was upregulated in sepsis‐induced ALI mice. TRIM21 overexpression eased inflammation and lung injury. TRIM21 promoted IRF1 degradation via ubiquitination modification. IRF1 bonded to the TREM2 promoter to inhibit its transcription. Overexpression of IRF1 or silencing TREM2 reversed the improvement of TRIM21 overexpression on lung injury in mice. In conclusion, TRIM21 reduced IRF1 expression by ubiquitination to improve TREM2 expression and ameliorate sepsis‐induced ALI.
Parental involvement in the education of students with visual impairment: Evidence from Woldia, Ethiopia
Authors: Bogale Belete Mebrat 
Published: October 2024

AbstractThis study examined the extent and nature of parental involvement in the education of students with visual impairment in the city of Woldia, Ethiopia, as well as the associated challenges these parents face. A qualitative approach was employed, utilising a case‐study design. A purposive sample of 14 participants, consisting of parents of students with visual impairment, was selected for in‐depth interviews and focus group discussions. The collected data underwent thematic analysis to identify key themes and patterns. The results indicate that parents of children with visual impairment actively engage in their child's education by providing materials, creating supportive environments and maintaining communication with schools. Challenges to parental involvement included poor communication with schools, a lack of involvement in at‐home learning, limited participation in volunteer activities and minimal involvement in decision‐making. These challenges were influenced by factors such as time constraints, false beliefs, scant knowledge of Braille‐related activities and negative attitudes towards parental involvement. Additionally, the study revealed a lack of collaboration between parents and communities in the education of children with visual impairment. These challenges need addressing and parental involvement in the education of these students should be enhanced. Improving communication, providing support and resources, fostering inclusivity, and promoting collaboration among parents, teachers, schools and the community are key to improving educational outcomes and societal inclusion for students with visual impairment.
Overcoming the Impact of Students for Fair Admission v Harvard to Build a More Representative Health Care Workforce: Perspectives from Ending Unequal Treatment
Authors: GUILAMO‐RAMOS VINCENT , THIMM‐KAISER MARCO , BENZEKRI ADAM , SHIM RUTH S. , AMANKWAH FRANCIS K. , ROSENBAUM SARA 
Published: October 2024

Policy Points
In a recently commissioned report on solutions for eliminating racial and ethnic health care inequities entitled Ending Unequal Treatment, the National Academies of Sciences, Engineering, and Medicine found a health workforce that is representative of the communities it serves is essential for health care equity.
The Supreme Court decision to ban race‐conscious admission constraints pathways toward health workforce representativeness and equity.
This paper draws on the National Academies report's findings that health care workforce representativeness improves care quality, population health, and equity to discuss policy and programmatic options for various participants to promote health workforce representativeness in the context of race‐conscious admissions bans.
Review article: Scoping review of interventions that reduce mechanical restraint in the emergency department
Authors: Lee Joseph , Lown Daiv J , Owen Patrick J , Hope Judith 
Published: October 2024

AbstractObjectiveMechanical restraints are known to be associated with many undesirable outcomes in clinical settings. Our objective was to examine the current literature to explore possible interventions that would reduce the use of mechanical restraints in the ED.MethodsIn this scoping review, we searched online databases Embase, MEDLINE and Cochrane CENTRAL for any studies published between the databases from 1 January 2007 to 19 September 2023. Studies were included if interventions were hospital‐ or staff‐focused and reported measured outcomes before and after the introduction of the intervention. Risk of bias was assessed using the JBI Critical Appraisal Checklist for Cohort Studies.ResultsThe search strategy yielded 1937 studies across the three databases, of which 13 studies were extracted and included in the review. Interventions were categorised into four groups: provision of staff training, addition of a de‐escalation team, creation of a dedicated unit and introduction of an agitation scale only. Most of the studies saw reduction in restraint rates or time in restraints. Only the two studies that used an agitation scale as a stand‐alone intervention saw no significant reduction. Only one study had low risk of bias, whereas the remainder had high risk.ConclusionsEvidence supports further exploration of interventions that include: designing an agitation guideline; training staff in assessment, attitudinal and de‐escalation skills; addition of a crisis team; and environmental changes in the form of adding a dedicated clinical space. Although these strategies may reduce mechanical restraint in the ED setting, further high‐quality studies are needed before definitive conclusions may be drawn.
Prehospital use of spinal precautions by emergency medical services in children and adolescents
Authors: Phillips Natalie , Eapen Nitaa , Wilson Catherine L , Nehme Ziad , Babl Franz E 
Published: October 2024

AbstractObjectivesLimited evidence exists to guide the management of children with possible spinal injuries in the prehospital setting. As a first step to address this, we set out to describe the epidemiology and management of children <18 years presenting with possible cervical spinal injuries to EMS in Victoria, Australia.MethodsRetrospective case record review of all children with concerns of head or neck trauma and/or documented cervical spine collar use presenting to the statewide Ambulance Victoria (AV) EMS service, Victoria, Australia, between 1 July 2019 and 30 June 2020. Demographic, clinical features, mechanism of injury and spinal immobilisation practices were extracted.Results2100 children were included; 61% were male and the median age was 13 years (interquartile range: 9–15). Over half of the children were transported to suburban (32.2%) and rural/regional (22.9%) EDs, with 37.5% taken to designated trauma centres. The most common mechanisms of injury were sports/activity, motor vehicle accidents and falls in 35.4%, 27.9% and 26.3%, respectively. Spinal precaution use was recorded in 93.7% of cases; cervical collar use was the most common procedure recorded (87.1%). Younger age groups were less likely to have spinal precautions initiated; 51% of children aged 0–3 years, compared to 96.3% of children aged 12 and older (odds ratio = 23.8; 95% confidence interval = 14.5–37; P < 0.001).ConclusionsPrehospital spinal precautions were initiated commonly in children, with use increasing with age, and most were transported to suburban, regional and rural hospitals, not trauma centres. These data will inform the integration of emerging paediatric‐specific evidence into prehospital guidelines to risk stratify children.
Inhibition of polyphenol oxidase for preventing browning in edible mushrooms: A review
Authors: Liang Yingqi , Luo Kaimei , Wang Bingli , Huang Bingqing , Fei Peng , Zhang Guoguang 
Published: October 2024

AbstractEdible mushrooms are rich in nutrients and bioactive compounds, but their browning affects their quality and commercial value. This article reviews various methods to inhibit polyphenol oxidase (PPO)‐induced browning in mushrooms. Physical methods such as heat treatment, low temperatures, irradiation, and ultrasound effectively reduce PPO activity but may affect mushroom texture and flavor. Chemical inhibitors, including synthetic chemicals and natural plant extracts, provide effective PPO inhibition but require careful monitoring of their content. Biological methods, including gene editing and microbial fermentation, show promise in targeting PPO genes and enhancing antioxidant production. Combining these methods offers a comprehensive strategy for preserving mushroom quality, extending shelf life, and maintaining nutritional value.Practical ApplicationThese approaches can be applied in the food industry to improve post‐harvest mushroom preservation, enhance product quality, and reduce waste, benefiting both producers and consumers. Further research and innovation are needed to optimize the practical application of these methods in large‐scale processing and storage conditions.
Effectiveness of wearable technology‐based physical activity interventions for adults with type 2 diabetes mellitus: A systematic review and meta‐regression
Authors: Chua Rachael Ern Ching , Lau Ying , Ang Wen Wei , Boey Allison Ann Ying Faustina , Lau Siew Tiang 
Published: October 2024

AbstractType 2 diabetes mellitus (T2DM) is a chronic metabolic disorder with the increasing prevalence of a modern sedentary lifestyle. Wearable technology‐based physical activity interventions (WT‐BPAI) might provide a channel to improve diabetic self‐management. The study aimed to (1) evaluate the effectiveness of WT‐BPAI on PA levels, glycemic levels, and other outcomes (blood pressure [BP], body mass index [BMI], and serum lipid profile) in adults with T2DM, and (2) investigate the potential covariates affecting aforementioned outcomes. Eight databases were searched thoroughly using three steps from inception until January 16, 2024. The quality of the studies and overall evidence were evaluated. The package meta of the R software program version 4.3.1. was utilized for meta‐analyses, subgroup analyses, and meta‐regression analyses. A total of 19 randomized controlled trials (RCTs) were found. Meta‐analyses revealed that WT‐BPAI significantly increased 1583 steps per day and decreased systolic BP (SBP) by 2.46 mmHg. Subgroup and meta‐regression analyses found that function, duration of intervention, and age were significant covariates. According to the risk of bias version 2, more than half of the trials raised some concerns about the randomization process, deviations from the intended intervention, and missing outcome data. The certainty of the evidence was very low for all outcomes based on the Grading of Recommendations Assessment, Development and Evaluation (GRADE) criteria. WT‐BPAI can be considered a supplementary intervention to increase the steps per day and decrease SBP, especially when used for short periods in young adults with T2DM. However, we need more well‐designed research with long‐term outcomes.image
Assessment of in‐situ CO2 Sequestration Potential and Enhanced Coalbed Methane (ECBM) Production of Continental Coal‐bearing Basins in China
Authors: LI Yaohua , WANG Yang , BI Caiqin , WANG Qianyou , SHI Yu , XU Yinbo , YUAN Yuan , TONG Lihua , TANG Yue , SHAN Yansheng , LIU Weibin 
Published: October 2024

AbstractThe utilization of CO2‐Enhanced Coal Bed Methane (CO2‐ECBM) technology is pivotal in realizing the environmentally responsible and efficient exploitation of Coalbed Methane (CBM) energy resources. The optimization of carbon capture, utilization, and storage (CCUS) for carbon reduction mandates a nuanced understanding of the diverse geological attributes present in CBM reserves globally. Traditional estimations of CO2‐ECBM's carbon sequestration potential have predominantly relied on rudimentary empirical models, notably those proposed by the United States Department of Energy (DOE), which overlook the intrinsic geological conditions and the physicochemical properties of subsurface fluids. Addressing these limitations, our study implements the advanced DR/Henry mixed adsorption model in tandem with the Peng‐Robinson equation of state (PR‐EOS). This approach meticulously identifies the critical parameters governing the mass exchange ratios between CO2 and CH4, pertinent to in‐situ geological environments. Subsequently, we have formulated a comprehensive carbon sequestration potential assessment framework. This innovative model adheres to the mass conservation principles for individual CO2 and CH4 components, taking into account the specific surface and stratigraphic conditions prevalent. Employing this refined methodology, we evaluated the CO2‐ECBM carbon sequestration potential of the 40 evaluation units of extensional, compressive, and cratonic continental coal bearing basins in China's three major temperature‐pressure systems across different depth domains and coal ranks within 2000 m. Our findings reveal that the theoretical carbon sequestration capacity of China's continental coal‐bearing basins is approximately 59.893 billion tons. Concurrently, the potential ECBM output stands at an estimated 4.92 trillion cubic meters, underscoring the substantial environmental and energy benefits inherent in harnessing CO2‐ECBM technology effectively. The regional analysis revealed that North and Northwest China hold the highest sequestration and recovery potential, followed by the Northeast and Southern regions, respectively. Specific areas, including the eastern edge of the Ordos Basin and southern Junggar Basin, Qinshui, Huoxi, Xishan, and other areas in Shanxi, present promising future prospects for geological carbon storage in unrecoverable coal seams.
Providing very low‐birth‐weight infants with fast enteral feeding reduced how long they needed a central venous catheter
Authors: Benguigui Laurie , Varnier Romain , Laborie Sophie , Plaisant Franck , Butin Marine 
Published: October 2024

AbstractAimTo determine the impact of the protocol change from slow to fast enteral feeding progression on duration of central venous catheter placement, and the rates of late‐onset sepsis and necrotising enterocolitis.MethodsWe compared the evolution of all very low‐birth‐weight infants admitted on their first postnatal day in neonatal intensive care unit during a 12‐month period, before (2021 Cohort) and after (2022 Cohort) implementation of a new feeding protocol. Linear regression model was used to adjust for confounding factors.ResultsA total of 343 VLBW infants were included (median gestational age ± SD 28.3 ± 1.7 weeks; median birth weight ± SD 980 ± 300 g). Median initial duration of central venous catheter was 5 days in 2022 cohort compared with 9 days in 2021 cohort (unadjusted p = 0.006, adjusted p = 0.001). Median time to achieve full enteral feeding was 8 days versus 12 days, p < 0.001, with no significant difference in late‐onset sepsis or necrotising enterocolitis rates.ConclusionThe change from slow to fast enteral feeding progression for very low‐birth‐weight infants significantly decreased the central venous catheter duration with no adverse outcomes. This is consistent with recent randomised study results and supports the safe implementation in neonatal intensive care units.
Getting in the zone: Metabolite transport across liver zones
Authors: van de Graaf Stan F. J. , Paulusma Coen C. , In het Panhuis Wietse 
Published: October 2024

AbstractThe liver has many functions including the regulation of nutrient and metabolite levels in the systemic circulation through efficient transport into and out of hepatocytes. To sustain these functions, hepatocytes display large functional heterogeneity. This heterogeneity is reflected by zonation of metabolic processes that take place in different zones of the liver lobule, where nutrient‐rich blood enters the liver in the periportal zone and flows through the mid‐zone prior to drainage by a central vein in the pericentral zone. Metabolite transport plays a pivotal role in the division of labor across liver zones, being either transport into the hepatocyte or transport between hepatocytes through the blood. Signaling pathways that regulate zonation, such as Wnt/β‐catenin, have been shown to play a causal role in the development of metabolic dysfunction‐associated steatohepatitis (MASH) progression, but the (patho)physiological regulation of metabolite transport remains enigmatic. Despite the practical challenges to separately study individual liver zones, technological advancements in the recent years have greatly improved insight in spatially divided metabolite transport. This review summarizes the theories behind the regulation of zonation, diurnal rhythms and their effect on metabolic zonation, contemporary techniques used to study zonation and current technological challenges, and discusses the current view on spatial and temporal metabolite transport.
Immediate and sustained effects of left‐hand dynamic handgrip on choking in men's basketball free‐throw performance
Authors: Wadhwani Bhuvanesh D. , Lim Harry Ban Teck , McConnell Bridget L. 
Published: October 2024

AbstractThe present study investigated the immediate and sustained effects of left‐hand dynamic handgrip (LDH; left‐hand squeezing) on reducing choking (anxiety‐induced performance decrements) in basketball free‐throw performance. Previous research affirmed LDH's efficacy in mitigating choking in various sports, however, its duration of effectiveness remains elusive. This study examined whether: a) participants who conducted LDH exhibited lower performance decrements than a control group under high‐pressure conditions, and b) the effects were stable over time. Twenty experienced right‐handed male participants (Mage = 23.10) attempted 20 free‐throws in each pre‐test (baseline low‐pressure) and post‐tests (High Pressure‐1; High Pressure‐2). Participants were randomly assigned to the left‐hand or right‐hand/control group and performed corresponding hand contractions preceding High Pressure‐1. State anxiety, assessed through the Competitive State Anxiety Inventory‐2, was induced from Low‐Pressure (Mcognitive = 15.75; Msomatic = 14.90) to High Pressure‐1 (Mcognitive = 20.75; Msomatic = 18.75). Post hoc analyses indicated that the left‐hand group maintained performance throughout all phases. However, the control group experienced performance decrements in High Pressure‐1 and this remained consistent in High Pressure‐2. Results supported both hypotheses, illustrating LDH's effectiveness in countering choking for a minimum duration of 15 minutes. This novel study offers insight into LDH's duration of effectiveness, facilitating wider integration into competitive sports.