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A national survey of paediatric Turner syndrome services in the UK: current practice and variability in care
Introduction: Turner syndrome (TS) is a complex genetic condition requiring lifelong, multidisciplinary care. International consensus guidelines exist, but the organisation of paediatric TS services in the UK has not been systematically explored. Methods: A structured electronic survey was distributed to paediatric endocrinology centres across the UK with responses collected from June 2023 to February 2024. The survey collected information on service configuration, staffing, multidisciplinary team (MDT) composition, transition pathways, use of consensus guidelines, and engagement with patient registries and support societies. Results: Responses were received from 20 UK tertiary centres. Six out of 20 centres operated a dedicated TS clinic. MDTs were limited in most centres to paediatric endocrine consultants and nurse specialists, and shared care models for outreach patients were common. Transition practices varied, with 45% of centres using TS-specific pathways, 45% using general endocrine transition pathways, and 10% without a transition pathway. Awareness of international TS guidelines, the Turner Syndrome Support Society, and the i-TS registry was high, but active engagement varied. Conclusion: Significant variability exists in UK paediatric TS service models. Centres without dedicated clinics were generally smaller with fewer patients. Geographic challenges may exacerbate inequalities for outreach patients. While some centres offer best practice examples, improvements in MDT availability, transition planning, and registry engagement are needed to align more closely with international care recommendations
Laser-Enhanced Biomorphic Scaffolds Support Multipotent Stem Cell Differentiation and Angiogenesis for Vascularised Bone Regeneration
Biomorphic hydroxyapatite scaffolds derived from rattan wood (GreenBone) show significant promise in bone tissue engineering due to their inherent structural similarity to natural bone. Laser-drilled GreenBone scaffolds were studied for enhanced porosity, nutrient diffusion, cellular infiltration, and vascularisation. Patient-derived bone marrow mesenchymal stromal/stem cells (BMMSCs) and culture-expanded mesenchymal stem cells (cMSCs) demonstrated high cell viability (>90%), considerable adhesion, and extensive cytoskeletal organisation. Trilineage differentiation confirmed the multipotency of BMMSCs, with osteogenic, adipogenic, and chondrogenic markers being successfully expressed. BMMSCs and cMSCs exhibited enhanced differentiation and gene expression profiles. At week 4, key osteogenic and angiogenic genes such as BMP2, VEGFC, RUNX2, and COL1A1 showed elevated expression, indicating improved bone formation and vascularisation activity. Markers associated with extracellular matrix (ECM) remodelling, including MMP9 and TIMP1, were also upregulated, suggesting active tissue remodelling. ELISA analysis for VEGF further demonstrated increased VEGF secretion, highlighting the scaffold’s angiogenic potential. The improved cellular response and vascular signalling emphasise the translational relevance of laser-modified GreenBone scaffolds for bone tissue engineering, particularly for critical-sized defect repair requiring rapid vascularised bone regeneration
Insulin-like peptide 5 is released in response to bile acid in the rectum and is associated with diarrhoea severity in patients with bile acid diarrhoea
Background
Insulin-like peptide 5 (INSL5) is an enteroendocrine hormone expressed in distal colonic ‘L cells’. Bile acid receptor agonists are known to stimulate INSL5 secretion in primary cell culture, and administration of an INSL5 analogue in animals promotes colonic motility.
Objective
This study used a new immunoassay to measure INSL5 in human blood samples, enabling assessment of whether rectal bile acids stimulate INSL5 release in humans and whether INSL5 levels are altered in patients with chronic diarrhoea.
Design
Serum/plasma samples from previously performed studies were used, including healthy volunteers (n=7) who received a rectal enema of taurocholic acid (TCA); fasting and post prandial samples from healthy volunteers (n=10); patients with bile acid diarrhoea (BAD) (n=19) or irritable bowel syndrome with diarrhoea (IBS-D) (n=8); and patients with IBS-D (n=64) treated with ondansetron or placebo.
Results
Rectal TCA but not a control enema promptly elevated plasma INSL5, with the increase in INSL5 correlating negatively with time to, and positively with desire to, defecate post enema. Healthy volunteers had low INSL5 levels (100 pg/mL) in 42%, and this subgroup showed greater improvements in stool consistency with ondansetron therapy (p<0.05).
Conclusion
The study highlights that rectal bile acids stimulate INSL5 secretion in humans, and that INSL5 levels are associated with a colonic pro-motility response and pathophysiology of chronic diarrhoea
The First Cadenza Challenge: Perceptual Evaluation of Machine Learning Systems to Improve Audio Quality of Popular Music for Those with Hearing Loss
Music is central to many people’s lives, and Hearing loss (HL) is often a barrier to musical engagement. Hearing aids (HAs) help, but their efficacy in improving speech does not consistently translate to music. This research evaluated systems submitted to the 1st Cadenza Machine Learning Challenge, where entrants aimed to improve music audio quality for HA users through source separation and remixing. HA users (N = 53, ranging from “mild” to “moderately severe” HL) assessed 8 challenge systems (including one baseline using the HDemucs source separation algorithm, remixing to original mixes of music samples, and applying NAL-R amplification) and rated 200 music samples processed for their HL. Participants rated samples on basic audio quality, clarity, harshness, distortion, frequency balance, and liking. Results suggest no entrant system surpassed the baseline for audio quality, although differences emerged in system efficacy across HL severities. Clarity and distortion ratings were most predictive of audio quality. Finally, some systems produced signals with higher objective loudness, spectral flux and clipping with increasing HL severity; these received lower audio quality ratings by listeners with moderately severe HL. Findings highlight how music enhancement requires varied solutions and tests across a range of HL severities. This challenge provided a first application of source separation to music listening with HL. However, state-of-the-art source separation algorithms limited the diversity of entrant solutions, resulting in no improvements over the baseline; to promote development of innovative processing strategies, future work should increase complexity of music listening scenarios to be addressed through source separation
An in-situ wear measurement instrumentation for thin metallic bearing coatings using high frequency ultrasound
In this paper, an in-situ measurement instrumentation for bearing wear status has been proposed, including the 22 MHz high frequency sensors, ultrasound multiplexer, data acquisition system and control algorithm. In-situ experiments have shown that it can measure the real-time thickness and wear depth of coating during the operation with a high accuracy. Additionally, the negative wear results have been discussed, which reveals the ultrasound reflection during the surface deformation stage, and explains the phenomenon of decreased wear depth during the wear progress. Generally, the research underpins the design of a prototype for an in-situ wear measurement instrument, which will be helpful for the further development of tribology equipment
How citizen participation facilitates trust in public institutions: a cross-national analysis of South Asia
We examine how citizen participation in public protests, public voting, official engagements, and political participation moderates the relationship between perceived public service quality and trust
in public institutions in South Asia. Drawing on the South Asian Barometer Survey, we propose that in countries with mature democracies, citizen participation moderates the relationship between perceived public service quality and trust in public institutions more strongly compared to late democratic adopters. Contrary to our expectations, perceived public service quality shows a significant negative impact on trust in public institutions in both mature and late democratic adopters in South Asia. We demonstrate that in countries with mature democracies, citizen
participation moderates the relationship between perceived public service quality and public trust in public institutions more strongly compared to late democratic adopters. Policymakers and
practitioners should consider the contextual differences that influence citizens’ participation as a means of enhancing trust in public institutions
Healthcare professionals, conflict prevention, and peacebuilding: towards peace through health?
Health workers are not only victims of armed conflict (although, all-too-often they are), but also have the potential to play important roles in preventing conflict, mitigating its effects, and building peace. Covering both theory and practice, the chapter examines the potential for health professionals to be agents for peace. Their ability to do so has been seen as deriving from a number of factors, including their ability to provide expert opinion on the damaging public health consequences of armed violence; the status of health as a ‘superordinate goal’ around which common ground can be found; and norms of medical neutrality which, in some circumstances at least, enable health professionals to play mediating roles.
The chapter begins by examining the development of thinking over recent decades about how to prevent conflict and restore peace where violence has broken out. It then goes on to examine the specific roles that have been identified for (and in some cases
fulfilled by) healthcare professionals in this before looking ahead to consider the ways in which these ideas of ‘Peace through Health’ are challenged by social and political trends, in particular the undermining of medical neutrality and a more general rise in distrust of medical and other scientific professionals. The chapter concludes by pointing to some of the responses that have been suggested for these challenges, including making Peace through
Health-relevant skills a core part of medical education, promoting best practice and successful initiatives, and working within professional associations to oppose war
Future heatwave conditions inhibit CO2-induced stomatal closure in wheat
As global temperatures and the severity of droughts continue to increase, food crops will more frequently experience high vapour pressure deficit (VPD) during heatwave events. However, the interactive effects of rising atmospheric CO2 and high-VPD heatwaves on crop water fluxes and yields are currently unknown.
We investigate stomatal, photosynthetic and productivity changes in wheat during simulated future high-VPD heatwaves, under ambient (450 ppm) or elevated (720 ppm) CO2 concentrations, across four N-fertiliser treatments. We measured the physiological response of abaxial and adaxial leaf surfaces to elevated CO2 concentration and/or high-VPD heatwave exposure, and quantified drought responses, seasonal water usage and ear weight.
Transpiration (E) and stomatal conductance (gsw) increased during high-VPD heatwaves (irrespective of CO2 concentration or N-fertiliser), largely due to increased water fluxes from abaxial leaf surfaces. Higher E and water usage increased wheat vulnerability to drought and led to reduced total ear weight. High-VPD heatwaves also hindered stomatal responses to light, with gsw only reducing by 37–38% after 1 h of dark treatment.
Our results show that wheat stomata are inhibited from closing under future high CO2, high-VPD heatwave conditions. This has considerable implications for future wheat water requirements, which in-turn could significantly impact drought susceptibility and yield potential
Addressing barriers to interprofessional working with homecare workers in community palliative care: Insights from a multi-site qualitative case study
Background:
Homecare workers (paid workers without professional qualifications who provide care for people within their own homes) are crucial providers of end-of-life care (the last 6 months of life) but are not part of the healthcare multidisciplinary team. Little is known about the homecare worker role within interprofessional working practices.
Aim:
To explore the experiences of end-of-life homecare provision, from multiple perspectives.
Design:
A qualitative multiple case study using semi-structured interviews, and the option to create a Pictor chart – a visual diagram of relationships between those involved in care provision. Data were analysed using a reflexive thematic analysis. An adaptation of Bronfenbrenner’s ecological systems theory was used to inform the analysis.
Setting/participants:
Homecare workers and managers, people receiving care, carers, social, and healthcare practitioners from three economically and culturally diverse geographical regions within England.
Results:
133 participants were recruited (case 1 = 49, case 2 = 34, case 3 = 49). Although examples of good practice were seen, common barriers to collaboration between health and social care practitioners and homecare workers were identified: lack of healthcare practitioner knowledge/training on homecare workers’ role and its value, and poor communication (gatekeeping by managers, asynchronous working practices, restricted access to documentation and systems).
Conclusion:
The homecare worker role was poorly understood and undervalued with inadequate communication and interaction between practitioners, potentially impacting on quality of care. Collaborative practice is necessary for provision of high-quality care, but we found this was often absent due to knowledge, professional, and organisational barriers. Further research should explore suggested strategies to address the barriers identified