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Participatory cultural decision-making as governance for health and wellbeing
No full textGovernance for health and wellbeing has traditionally been structured as a top-down process, with governments and policymakers determining strategies to improve population health. While there is increasing recognition of the role of arts, creative practice, and culture in wellbeing, cultural participation is often framed as an intervention rather than a governance mechanism. This commentary argues that participatory cultural decision-making is a form of governance for health and wellbeing. By shifting from cultural consumption to cultural co-governance, participatory models such as citizens’ juries and community-led planning empower communities and individuals, promoting agency, cohesion, and wellbeing
Dialectical behaviour therapy in the treatment of borderline personality disorder: a commentary
Get PDFDialectical behaviour therapy (DBT) is a psychotherapeutic intervention that was designed specifically to treat deliberate self-harm (with or without suicide intent) in women with borderline personality disorder (BPD). DBT has received the most research attention compared with other psychological approaches used in the management of symptoms of BPD. This article provides a commentary on a meta-analysis of 11 randomised controlled trials (RCTs) that investigated the effects of DBT on self-harming behaviours and negative emotions in patients with BPD. The commentary includes a critical appraisal of the methodology used in the meta-analysis. The authors of this article conclude that although the meta-analysis provides some evidence that DBT may reduce self-harming behaviours and depression in individuals with BPD, its methodological limitations, and the high risk of bias identified within the RCTs reviewed, mean that the results should be viewed with caution
Is neck and shoulder posture, muscle activity and discomfort influenced by tablet inclination in young adults with and without neck pain?
Get PDFThis study aimed to investigate the effect of tablet inclination on neck and shoulder posture, muscle activity, and discomfort in young adults with and without neck pain during a prolonged writing task. Participants performed a continuous writing task on a tablet for 40 minutes under two conditions, tablet lying flat and with a 30o inclination. The results showed that young adults with neck pain demonstrated higher neck-shoulder muscle activity and discomfort whilst maintaining a similar neck-shoulder posture than those without neck pain. The 30o inclination improved neck-shoulder posture and reduced neck discomfort but induced greater shoulder muscle activity. After 20 minutes, the flat tablet led to increased neck muscle activity in the neck pain group and increased neck discomfort in the group without neck pain. In conclusion, young adults should be recommended to use a 30o inclination and writing on a flat tablet for longer than 20 minutes should be discouraged
P770: Genetic characterization of PYCR1-associated De Barsy syndrome in a Pakistani family through whole exome trio sequencing
Get PDFTreatment and Management
The neonate was admitted to the neonatal intensive care unit immediately post-birth due to respiratory distress, receiving low-flow oxygen (2L/min), which was increased to 4L/min via bCPAP due to increased respiratory effort. Broad-spectrum antibiotics and antifungals were started preemptively to control potential sepsis, and caffeine citrate was administered for apnea of prematurity. Nutritional needs were supported via total parenteral nutrition. A multidisciplinary team, including a neonatologist, pediatric surgeon, orthopedic specialist, and ophthalmologist, was engaged to manage and monitor complications. Early interventions for bilateral talipes equinovarus, such as taping and strapping, were initiated. The family received counseling on the prognosis and home care requirements.
Outcome and Follow-Up
The proband experienced progressive failure to thrive with persistent respiratory and feeding difficulties. Despite supportive care, he passed away on 15th day of life after suffering a massive pulmonary hemorrhage. Genetic counseling was provided to the family to explain recurrence risks and prenatal screening for future pregnancies.
Discussion
This case represents the first genetically confirmed report of DBS in Pakistan. Although a case of DBS was reported in a family of Pakistani origin in 2008, no confirmatory genetic testing was performed. Previous studies have shown that Arg251 is directly involved in stabilization of the inter-homodimer interactions and thus loss of multimerization leads to severe phenotype. Moreover, Arg215His variant is also reported to correlate with reduced expression of PYCR1 in skin fibroblasts.
Conclusion
In conclusion, this report highlights the clinical and diagnostic complexity of DBS and underscores the value of comprehensive genetic testing, as an essential diagnostic and management tool for rare genetic disorders with phenotypic overlap.
Introduction
De Barsy Syndrome (DBS), or cutis laxa type IIIB, is a rare autosomal recessive connective tissue disorder predominantly caused by variants in the PYCR1 gene. It is clinically characterized by progeroid features, cutis laxa, skeletal abnormalities, and multi-system involvement, that mimics other progeroid syndromes, making diagnosis challenging. Here, we present a genetically confirmed case of DBS expanding the phenotypic spectrum and underscoring the utility of whole exome trio sequencing (ES-Trio) in differentiating rare yet overlapping disorders.
Case Presentation
We report a one-day-old male infant born at 34 weeks gestation to a multigenerationally consanguineous family (gravida 6, para 6) via lower segment cesarean section, following a two-week history of oligohydramnios and intrauterine growth restriction. At birth, Apgar scores were 7 and 8 at 1 and 5 minutes, respectively, with anthropometric measurements: weight of 1290g, length of 38cm, and occipital-frontal circumference of 27.5cm. Key clinical features included a progeroid appearance, extensive skin wrinkling, triangular face, large fontanelles, wide cranial sutures, corneal clouding, hyperextensible joints with finger contractures, prominent chest and abdominal veins, bilateral cryptorchidism, and bilateral talipes equinovarus.
Diagnostic Workup
Standard G-banding karyotyping was unremarkable, revealing 46,XY genotype. Initially suspected to have Wiedemann-Rautenstrauch syndrome, the infant underwent genetic testing for POLR3A, which did not reveal pathogenic or likely pathogenic variants. The case was then referred to a geneticist for further assessment and underwent ES-Trio. Whole blood samples from the proband and parents were collected for DNA extraction and sequencing. Variants were interpreted according to ACMG/AMP guidelines, and structural modeling tools were used to assess the functional impact of variant under investigation.
The proband harbored a likely pathogenic variant in a homozygous state within exon 6 of PYCR1 (c.752G>A; p.Arg251His). The variant had high pathogenicity scores (REVEL, SIFT, PolyPhen-2), and structural analysis indicated disruption of a salt bridge between Arg251 and Glu246. The genotype-phenotype correlation and the heterozygous carrier status of the parents for this variant confirmed the diagnosis of DBS
Evaluating a VR Game Featuring Optical Illusion Challenges: A Study on Workload, VR Sickness, and User Experience
No full textVR gaming is rapidly growing in popularity, with puzzle-based games featuring optical illusions attracting gamers attention. Optical illusions are an emerging gameplay mechanic, challenging players' perceptual and cognitive abilities. While widely used in 2D/3D games, their integration into VR remains underexplored. This study investigates the use of optical illusion challenges in a VR game, focusing on players' workload demands, possible onset of VR sickness, and overall experience. A not-so-serious educational game featuring optical illusion challenges as core tasks for progression was developed for VR and PC, and a comparative evaluation was conducted. Results revealed that these challenges provided an enjoyable and immersive experience, with generally low workload demands. However, the complexity and disorienting nature of some illusions occasionally increased physical and mental effort, triggering VR sickness in some players. These findings offer valuable insights for designing VR games, highlighting the importance of balancing challenge and comfort when implementing such mechanics
Enhancing Children’s Involvement in, and Influence over, Domestic Abuse and Family Violence Knowledge Creation through Trauma-informed Approaches to Research
No full textPurpose
In this commentary, we explore how a trauma-informed approach to research can help address some of the drivers behind the continued marginalisation of children’s voices in domestic abuse and family violence research, as noted by numerous contributors to this special issue. We focus particularly on how such an approach can help reframe and start to address the safety and wellbeing concerns that are frequently cited as reasons for denying children their Article 12 UNCRC right to have a say about matters than affect them, within trauma-focused research contexts.
Method
We include examples of practical research strategies, drawing on the authors’ cumulative body of published research and other research reported on in this special issue.
Results
We identify practical research strategies that can support increased awareness of, and responsiveness to, the potential presence and impacts of trauma in research, in a way that integrates realisation of children’s participation and protection rights. We do so primarily in relation to children’s involvement in research as research participants but conclude with an exploration of the conceptual and practical alignment of trauma-informed and participatory approaches to research.
Conclusion
We contend that the application of a trauma-informed approach to research can help create safer and more meaningful opportunities for children to be involved in, and influence, domestic abuse and family violence knowledge creation
Enhancing the safety of underwater subway tunnels through grouting reinforcement in fault fracture zones
Get PDFSubsea fault fracture zones pose significant stability challenges and heighten the risk of tunnel face collapse and sudden water inrush during subway construction. Despite the common practice of using grouting reinforcement to stabilize the surrounding rock, there is limited research on its specific control effects. This study addresses this gap by investigating the impact of grouting reinforcement on the safety of subsea tunnels crossing fault fracture zones, using the Qingdao subway project in China as a case study. A coupled numerical model encompassing seepage, stress, and displacement fields was developed via MIDAS/GTS to analyze changes in porewater pressure, seepage velocity, surrounding rock stress, initial support stress, and tunnel displacement before and after grouting. The results demonstrate a significant reduction in porewater pressure and stress concentration post-grouting. The maximum and minimum principal stresses of the initial support were approximately 4.7 MPa and 3.4 MPa, which were found to be within safe limits, indicating a well-designed reinforcement strategy. Additionally, settlement and uplift measurements were 12 mm and 14 mm, representing a 54 % reduction compared to conditions without grouting reinforcement. Both maximum settlement and uplift values were considerably below standard limits of 20 mm, affirming the effectiveness of the grouting measures. The close alignment between field test data and numerical model results validates the model's accuracy. This study provides critical insights and a scientific basis for evaluating and implementing grouting reinforcement in similar subsea tunnel projects, contributing to safer and more efficient construction practices
Trimethylamine N-Oxide as a Biomarker for Left Ventricular Diastolic Dysfunction and Functional Remodeling After STEMI
Get PDFDespite successful primary percutaneous coronary intervention (PPCI), the incidence of heart failure (HF) following ST-elevation myocardial infarction (STEMI) remains high. We investigated using Trimethylamine N-oxide (TMAO), a gut microbiota-derived biomarker, to predict adverse functional left ventricular (LV) remodeling (FLVR) and/or diastolic dysfunction (DD), which are precursors of HF post-STEMI. This prospective, observational study enrolled 204 STEMI patients with multivessel coronary artery disease after PPCI. TMAO level was collected at the baseline and 3 months. An echocardiography was performed at the baseline and at 12 months. The primary endpoints were the number of patients developing Group 4 FLVR or ≥Grade II DD at 12 months. The median age was 65 [57.00, 76.00] and 39.7% were women. The primary endpoints occurred in 47 (23.0%) patients. Three months of TMAO can discriminate patients with/without ≥Grade II LV DD and FLVR Grade 4 with areas under the curve (AUC) of the ROC of 0.72 (95% CI: 0.63–0.81; p < 0.001) and 0.77 (95% CI: 0.63–0.91), respectively. Similar results were shown in the validation cohort of 31 patients. The addition of 3 months of TMAO to traditional risk factors significantly improved the AUCs from 0.675 to 0.736 for ≥Grade II DD and from 0.793 to 0.873 for FLVR Grade 4. In multivariable logistic regression, 3 months of TMAO was independently associated with ≥Grade II DD (OR: 1.29 (1.13–1.50), p < 0.001) and FLVR Grade 4 (OR: 1.28 (1.12–1.47), p < 0.001). Three months of TMAO is strongly associated with LV DD and adverse remodeling after STEMI and may help identifying such patients for early treatment
The assessment and development of psychosocial skills and characteristics on the male youth soccer academy development pathway: A narrative review
No full textResearch increasingly emphasises the importance of psychosocial skills and characteristics (PSCs) in developing academy football (soccer) players, allowing them to thrive as people and not just athletes. Empowering young people with appropriate life skills is believed to enhance chances of dealing with transitions within and outside of the academy setting. However, confusion still exists as to which PSCs are important and how to assess and develop them. Accordingly, this narrative literature review aims to (1) identify which PSCs are important, (2) evaluate current approaches to assessment and development, (3) discuss factors that affect development of PSCs within academies, and (4) propose areas for future research. Key findings were that a number of PSCs were identified to be important to deal with transitions, get an early start and develop players holistically. The review also highlights limited research investigating assessment and development in academy environments. Current assessment methods include objective tools such as questionnaires (e.g., psychological characteristics of developing excellence questionnaire) and subjective approaches such as player observations and performance profiling. Although different approaches have been advocated, the area would benefit from a more individualised, strategic and systematic approach. Future research should investigate the importance of PSCs at different ages and academy levels and the effectiveness of different approaches to integrating PSCs into curricula, including upskilling and engaging coaches into the importance of this process. It is hoped that this review will provide a stimulus for future research into the importance and effectiveness of assessing and developing PSCs in academy soccer players
Effect of plant-based proteins on recovery from resistance exercise-induced muscle damage in healthy young adults – a systematic review
Get PDFBackground: Plant-based protein supplementation in supporting muscle recovery following resistance exercise remains an area of growing interest, particularly among vegan athletes, as a potential alternative to animal-based proteins. This systematic review aimed to evaluate the effectiveness of plant-based proteins on recovery from resistance exercise-induced muscle damage in healthy young adults. Methods: A systematic and comprehensive search was administered in eight databases up to 1 May 2025, identifying 1407 articles. Following deduplication and screening, 24 studies met the eligibility criteria, including 22 randomized controlled trials and 2 non-randomized studies, with the majority from high income western countries. Results: Interventions primarily involved soy, pea, rice, hemp, potato, and blended plant protein sources, with doses ranging from 15 to 50 g, typically administered post resistance exercise. Outcomes assessed included muscle protein synthesis (MPS), delayed-onset muscle soreness (DOMS), inflammatory biomarkers, muscle function, and fatigue. The review findings reaffirm that single-source plant proteins generally offer limited benefits compared to animal proteins such as whey, particularly in acute recovery settings, a limitation well-documented consistently in the literature. However, our synthesis highlights that well-formulated plant protein blends (e.g., combinations of pea, rice, and canola) can stimulate MPS at levels comparable to whey when consumed at adequate doses (≥30 g with ~2.5 g leucine). Some studies also reported improvements in subjective recovery outcomes and reductions in muscle damage biomarkers with soy or pea protein. However, overall evidence remains limited by small sample sizes, moderate to high risk of bias, and heterogeneity in intervention protocols, protein formulations, and outcome measures. Risk of bias assessments revealed concerns related to detection and reporting bias in nearly half the studies. Due to clinical and methodological variability, a meta-analysis was not conducted. Conclusion: plant-based proteins particularly in the form of protein blends and when dosed appropriately, may support muscle recovery in resistance-trained individuals and offer a viable alternative to animal-based proteins. However, further high-quality, long-term trials in vegan populations are needed to establish definitive recommendations for plant protein use in sports nutrition