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    Delivery of physiotherapy and occupational therapy standards of care for Duchenne muscular dystrophy: Key recommendations based on UK web-based survey

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    \ua9 2025Duchenne muscular dystrophy is a neuromuscular disorder which has benefited from the implementation of key management strategies embedded in International Standards of Care. This study was prompted by the need for more practical, implementable guidance for physiotherapists and occupational therapists than were presented in the international guidelines. Using two web-based surveys, we explored how therapy is currently being delivered in the UK at specialist neuromuscular clinics as well as in community settings, and how it could be improved. The surveys showed that a significant proportion of families report they are not accessing any physiotherapy in either neuromuscular centres (23 %) or in the community (33 %) and that occupational therapy was particularly limited in neuromuscular centres (lacking in 70 %) but also in the community (33 %). There was evidence that, although much is reported as positive about appointments, key gaps are evident. The feedback from families and therapists indicates that care could be better delivered by improving communication, alongside upskilling and education of therapists and families. It demonstrated the value of and real need for a guide for therapists for Duchenne muscular dystrophy as well as a simultaneous family guide to facilitate the improvements identified

    Improving recruitment and retention of people with Parkinson\u27s disease to clinical studies: A scoping review

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    BackgroundTimely recruitment and effective retention of participants are challenging for clinical Parkinson\u27s disease (PD) research studies. Not achieving this can affect delivery costs and bias results.ObjectiveTo identify successful recruitment and retention methodologies for clinical research studies in PD.MethodsWe conducted a systematic scoping review using a Population, Intervention, Comparator, Outcome and Study design (PICOS) framework to search and screen literature within five databases for published quantitative and mixed methods studies evaluating recruitment and retention strategies of interventional and observational trials in PD.ResultsSearches identified 4608 records, of which six papers covering eight studies were included in the review following screening for eligibility. No papers on retention strategies were found that met eligibility criteria. Effective strategies for rapid recruitment included research registries and trial finders (n = 3), digital marketing campaigns (n = 3), site recruitment support (n = 1) and multiple referral sources (n = 1). Recruitment diversity was increased by online campaigns, mandatory 10% minority targets set by funders and supplemental site funding.ConclusionsThis scoping review has identified methods that can be used to increase the rate and diversity of recruitment to PD clinical studies. Retention methodologies are under-researched.Recruiting patients to clinical studies and ensuring participants complete them (known as “retention”) is challenging in Parkinson\u27s disease (PD). If studies take longer this increases costs, and if the right people do not take part in studies this can mean that results may not be representative of the PD community. Our objective is to find out what effective strategies there are to support recruitment and retention to clinical research studies in PD. We reviewed literature within five study databases. We used the population, intervention, comparator, outcome and studies (PICOS) framework to create a search strategy based on our research question, and inclusion criteria for study selection. Important criteria were: (1) studies had to test a recruitment or retention strategy in a PD clinical research study, (2) studies had to provide evidence on how well the strategy worked. We found 4608 unique research papers, six of which described and evaluated recruitment strategies. No papers on retention strategies were found that met eligibility criteria. Successful recruitment strategies included digital marketing (n = 3), research registries (n = 3), supporting study sites (n = 1) and multiple sources to refer people with Parkinson\u27s (PwP) to studies (n = 1). Recruitment of PwP from diverse backgrounds was enhanced by (1) online campaigns, (2) funders requesting that 10% of study participants come from diverse backgrounds 3) additional funding for research teams.This scoping review identified methods that can be used to increase the rate and diversity of recruitment to PD clinical studies. Retention methodologies are under-researched

    Correction to: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes (<em>European Journal of Human Genetics</em>, (2024), 32, 8, (998-1004), 10.1038/s41431-024-01637-4)

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    \ua9 The Author(s) 2025.Correction to: European Journal of Human Genetics (2024) 32:998–1004 https://doi.org/10.1038/s41431-024-01637-4, published online 31 May 2024 In the original article, Tables 1 and 2 were swapped during initial production. The incorrectly assigned table order can be seen below: The total number of structural variant calls, the number of evaluated calls, and the diagnostic value increase per ERN. Total number of affected individuals denotes all the affected family members including index cases. Variants detected via paired-end or soft-clipped signal based SV analysis (Manta) in exomes, considered to be causative for the corresponding rare diseases. ERN RND ERN ITHACA ERN NMD ERN GENTURIS Number of affected individuals 2.343 1.892 1.632 357 Number of index patients 2.2 1.821 1.499 340 Known disease genes in gene list 1.82 3.081 611 230 Number of candidate variants, after filtering 798 1.404 1.519 15 Number of samples with SVs, after filtering 487 868 606 15 Number of solved index patients/all affected patients 7 (0.32%)/11 9 (0.49%)/9 6 (0.4%)/9 1 (0.29%)/3 Percentage of causal SVs among investigated SVs 1.37% 0.64% 0.59% 20% The correct table order should have been: Table 1. The total number of structural variant calls, the number of evaluated calls, and the diagnostic value increase per ERN. Total number of affected individuals denotes all the affected family members including index cases. ERN RND ERN ITHACA ERN NMD ERN GENTURIS Number of affected individuals 2.343 1.892 1.632 357 Number of index patients 2.2 1.821 1.499 340 Known disease genes in gene list 1.82 3.081 611 230 Number of candidate variants, after filtering 798 1.404 1.519 15 Number of samples with SVs, after filtering 487 868 606 15 Number of solved index patients/all affected patients 7 (0.32%)/11 9 (0.49%)/9 6 (0.4%)/9 1 (0.29%)/3 Percentage of causal SVs among investigated SVs 1.37% 0.64% 0.59% 20% Variants detected via paired-end or soft-clipped signal based SV analysis (Manta) in exomes, considered to be causative for the corresponding rare diseases. The original article has now been corrected

    Suitability of Bentonite-Stabilized Laterite for Use as a Material for Nuclear Waste Containment in Sub-Saharan Africa

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    Copyright \ua9 2025 Emmanuel E. Arinze and Colin T. Davie. Journal of Engineering published by John Wiley &amp; Sons Ltd. This article investigates the potential use of a bentonite-stabilized laterite mixture as a material for nuclear waste containment in sub-Saharan Africa. The study analyzes the engineering properties of the composite material, including its compaction properties, permeability, swelling properties, and specific gravity. The article discusses the increasing importance of effective management of radioactive waste and the use of deep geological repositories (DGRs) for long-term storage. However, the high swelling pressure of bentonite poses risks to the structural integrity of DGRs. To address this issue, researchers have explored the use of bentonite–laterite mixtures as barrier materials. In sub-Saharan Africa, laterite has been considered as a potential solution for reducing the swelling potential of bentonite. The study conducts tests on commercially sourced MX bentonite and laterite to assess their engineering properties. Permeabilities of the mixes increased to 4.3E − 12, 5.5E − 12, 3.8E − 11, and 2.5E − 11 m/s, respectively, with 10%, 20%, 30%, and 40% of laterite in the composite. Similarly, the swelling pressure improved from 0.8 MPa to 1.7, 2.1, 2.5, and 2.8 MPa, respectively, with 60%, 70%, 80%, 90%, and 100% bentonite content. The results reveal that the addition of laterite improves the compaction properties of the mixture, decreases the clay concentration, increases permeability, reduces water absorption, and lowers swelling capacity. The recommended mixture for nuclear waste containment in sub-Saharan Africa is 85% bentonite and 15% laterite, meeting required specifications while considering cost-effectiveness and material availability. This research contributes to the understanding of the swelling properties of bentonite stabilized with laterite and provides valuable insights for the design and construction of DGRs for nuclear waste

    Routine data collection in home care: a national survey of home care providers in England

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    \ua9 2025, Vanessa Davey, Janice Healey, Jennifer Liddle, Bryony Beresford, Stacey Rand, Claire Goodman, Karen Spilsbury and Barbara Hanratty. Purpose: Mandatory digital social care records and a standardised schedule for collecting information on home care clients are proposed for regulated adult social care providers in England. This could facilitate the introduction of a minimum data set (MDS). This study aimed to understand current data collection practices in home care, and identify where support for implementation of an MDS is needed. Design/methodology/approach: An online survey of English home care providers was conducted in 2023, asking about the information they collect, store and share about their clients. Data were analysed using descriptive statistics and logistic regression. Findings: One hundred and fifty five responses were received from home care providers in all regions of England, a majority were for-profit organisations (89%). All collected a range of data on client characteristics and observations about care delivered. Monitoring of changes in client wellbeing and use of standardised measurement tools (e.g. functioning, mood or quality of life) were uncommon. Over two-thirds (71%) reported that they reviewed the content of care packages at least every six months. Providers with a majority of self-funding clients were more likely to regularly update information on care needs and client/ family preferences. Practical implications: Data collection in UK home care will require expansion, to implement an MDS, which has resource implications for providers. Home care staff will need the skills to collect and use data to enhance client care. Originality/value: To the best of the authors’ knowledge, this is the first national survey of home care providers on their routine data collection practices

    Plasma Biomarkers and Disease Prognosis in Mild Cognitive Impairment with Lewy Bodies

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    \ua9 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. Background: Little is known about the prognostic value of plasma biomarkers in mild cognitive impairment with Lewy bodies (MCI-LB). Objectives: To investigate the association of four plasma biomarkers with disease progression in MCI. Methods: Plasma amyloid-beta (Aβ)42/40, glial fibrillary acidic protein (GFAP), neurofilament light (NfL), and phosphorylated tau 181 (pTau181) were measured at baseline in a longitudinal MCI cohort (n = 131). Results: Baseline plasma NfL was associated with increased risk of dementia/death in the entire cohort. In MCI-LB, baseline plasma NfL, GFAP, and pTau181 were associated with increased risk of dementia/death and increased cognitive decline measured by the Addenbrooke\u27s Cognitive Examination-Revised. Conclusions: pTau181, GFAP, and NfL are associated with more rapid disease progression in MCI-LB and, with further validation, could be useful to support prognosis and stratification for clinical practice and treatment trials. Further work, including clinicopathological studies, is needed to understand the biological correlates of these markers in MCI-LB. \ua9 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society

    Structured Cardiac Assessment and Treatment Following Exacerbations of COPD (SCATECOPD): A Pilot Randomised Controlled Trial

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    \ua9 2025 by the authors.Background/Objectives: Heart disease is common in COPD, yet it is underdiagnosed and undertreated. Heart failure (HF) is undiagnosed in up to 20% of hospital inpatients. Hospitalised exacerbations of COPD (ECOPD) confer high mortality and readmission rates, with an elevated temporal cardiac risk. We performed a pilot randomised controlled trial examining the feasibility and effect of inpatient structured cardiac assessment (SCA) to diagnose and prompt guideline-recommended treatment of heart disease. Methods: A total of 115 inpatients with ECOPD were randomised 1:1 to receive usual care (UC) or SCA, comprising transthoracic echocardiography, CT coronary artery calcium scoring, 24 h ECG, blood pressure, and diabetes assessment. Follow-up was for 12 months. The prevalence of underdiagnosis and undertreatment of heart disease were captured, and potential outcome measures for future trials assessed. Results: Among patients undergoing SCA, 42/57 (73.7%) received a new cardiac diagnosis and 32/57 (56.1%) received new cardiac treatment, compared with 11/58 (19.0%; p &lt; 0.001) and 5/58 (8.6%; p &lt; 0.001) in the UC group. More patients in the SCA group were newly diagnosed with HF (36.8% vs. 12.1%; p = 0.002). When heart disease was diagnosed, the proportion receiving optimal treatment at discharge was substantially higher in SCA (35/47 (74%) vs. 4/11 (34%); p = 0.029). The occurrence of a major adverse cardiovascular event (MACE) showed promise as an appropriate clinical outcome for a future definitive trial. MACEs occurred in 17.2% in usual care vs. 10.5% in SCA in one year, with a continued separation of survival curves during follow up, although statistical significance was not shown. Conclusions: A structured cardiac assessment during ECOPD substantially improved diagnosis and treatment of heart disease. HF and coronary artery disease were the most common new diagnoses. Future interventional trials in this population should consider MACEs as the primary outcome

    Integrated histopathology, spatial and single cell transcriptomics resolve cellular drivers of early and late alveolar damage in COVID-19

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    \ua9 The Author(s) 2025. The most common cause of death due to COVID-19 remains respiratory failure. Yet, our understanding of the precise cellular and molecular changes underlying lung alveolar damage is limited. Here, we integrate single cell transcriptomic data of COVID-19 and donor lung tissue with spatial transcriptomic data stratifying histopathological stages of diffuse alveolar damage. We identify changes in cellular composition across progressive damage, including waves of molecularly distinct macrophages and depletion of epithelial and endothelial populations. Predicted markers of pathological states identify immunoregulatory signatures, including IFN-alpha and metallothionein signatures in early damage, and fibrosis-related collagens in late damage. Furthermore, we predict a fibrinolytic shutdown via endothelial upregulation of SERPINE1/PAI-1. Cell-cell interaction analysis revealed macrophage-derived SPP1/osteopontin signalling as a key regulator during early steps of alveolar damage. These results provide a comprehensive, spatially resolved atlas of alveolar damage progression in COVID-19, highlighting the cellular mechanisms underlying pro-inflammatory and pro-fibrotic pathways in severe disease

    Reply to "comment on "diamond (111) surface reconstruction and epitaxial graphene interface"

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    \ua9 2025 authors. Published by the American Physical Society. Published by the American Physical Society under the terms of the Creative Commons Attribution 4.0 International license. Further distribution of this work must maintain attribution to the author(s) and the published article\u27s title, journal citation, and DOI.In the Comment by Goletti et al. [Phys. Rev. B 111, 117301 (2025)10.1103/PhysRevB.111.117301], concerns are raised regarding the interpretation of our experimental findings, as well as the application of basic ground-state density functional theory (DFT) models pertaining to the C(111)-(2 71) surface presented in our earlier publication [Reed et al., Phys. Rev. B 105, 205304 (2022)2469-995010.1103/PhysRevB.105.205304]. These concerns are addressed and our interpretation of the results is ultimately reconfirmed. We present further analysis of the original data and introduce new measurements on previously unreported regions of the surface reconstructed (2 71) Brillouin zone, aiding in the evaluation of the dispersion relation at other high-symmetry points. We gain insights relating to the current use of DFT calculations that include many-body theories when relating to the occupied electronic structure of this surface as measured by angle-resolved photoelectron spectroscopy

    Can the Emerging European Seaweed Industry Contribute to Climate Change Mitigation by Enhancing Carbon Sequestration?

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    \ua9 2025 The Author(s). Reviews in Aquaculture published by John Wiley &amp; Sons Australia, Ltd. Blue carbon habitats, which exhibit high rates of natural carbon sequestration, typically refer to salt marshes, seagrass meadows, and mangrove forests. Recent studies, however, have argued for the inclusion of seaweed-dominated habitats, like kelp forests, into blue carbon frameworks. Farmed seaweed may also function as a blue carbon habitat, with large-scale seaweed aquaculture suggested as a climate change mitigation strategy, but the evidence base remains limited. Here, existing knowledge on the mechanisms influencing carbon uptake, release, transport, and storage from kelp farms was synthesised, and a literature review was conducted to quantify associated rates of carbon sequestration. We identified strong geographical and methodological biases in the literature, with the majority of studies conducted in Asia and focusing on primary production rates as a proxy for carbon sequestration potential. Estimates of carbon release and storage rates were highly variable across locations, species, and approaches, and a scarcity of research on dissolved organic carbon, sedimentary carbon, and net ecosystem productivity was identified. Although the European kelp farming industry is in its infancy, it is predicted to expand to meet increasing demand for seaweed biomass. This is incentivised by perceived associated ecosystem service benefits such as enhanced carbon sequestration. However, multiple factors including environmental concerns, a lack of quantitative evidence, operational challenges, and regulatory complexities hinder industry expansion. Based on both the synthesised empirical evidence and an examination of key barriers and knowledge gaps, we identify future challenges and research priorities needed to assess the role of seaweed farming for climate change mitigation

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