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Epidemiology of progressive intellectual and neurological deterioration in UK children
Get PDFAIM: To study the neurodegenerative diseases that cause progressive intellectual and neurological deterioration (PIND) in children in the UK.METHOD: This active prospective epidemiological study asked UK paediatricians to notify all childhood cases of PIND via the British Paediatric Surveillance Unit. Clinical data were obtained using a questionnaire or via a site visit. An independent PIND study Expert Group classified the cases.RESULTS: Between May 1997 and April 2024 (27 years), 2373 children with PIND were identified who had an underlying diagnosis to explain their deterioration. There were six cases of variant Creutzfeldt-Jakob disease plus 2367 children (1265 males, 1102 females) with other diseases. The lifetime risk of having a diagnosed disease causing PIND was 0.1 in 1000 live births. Asian British children made up 28.6% of the 2183 cases with known ethnicity. Excluding variant Creutzfeldt-Jakob disease, diagnosed children had 259 diseases, identified before death in 99% of children (only 39 were known to have had postmortems). Increasingly, diagnosis was made using genetic studies. Sixty-one per cent (157 of 259) of the diseases were inborn errors of metabolism, affecting 78% of diagnosed children. There were 43 lysosomal diseases.INTERPRETATION: This unique epidemiological study of many rare childhood neurodegenerative diseases provides valuable practical information about the presentation, clinical features, and inheritance of these complex disorders.</p
Managing Dystonia in Partington Syndrome
Get PDFBACKGROUND: Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.CASES: We present 2 cases of Partington syndrome featuring Aristaless-related homeobox (ARX) gene mutations, hand dystonia, and other clinical signs. Various drug treatments were attempted, including levodopa (l-dopa), trihexyphenidyl, tetrabenazine, and benzodiazepines, as well as botulinum toxin. Additionally, a blinded dystonia protocol was used to assess l-dopa's efficacy in 1 patient, which confirmed only mild benefit.LITERATURE REVIEW: Through a systematic review of the literature, we found that only l-dopa and baclofen might result in mild improvement, whereas propranolol, gabapentin, and haloperidol were reported as ineffective. The descriptions in those studies were, however, imprecise and the improvement rather mild, hindering definitive conclusions about their effectiveness.CONCLUSIONS: Treatment options in Partington syndrome-associated dystonia remain elusive. Further research and additional case studies are needed to fully characterize the clinical features of Partington syndrome and to identify effective treatments.</p
Genetic diversity and selection signatures in related Mediterranean breeds: Sarda, Pag, and Istrian sheep
Get PDFLocal sheep breeds in southern Europe are highly adapted to their environments, often characterized by hot climate and poor pasture availability, where other types of agriculture would not be possible. In order to better exploit these livestock resources, genomic regions associated with adaptation could be identified. The objective of this work was to use population genetic and genomic approaches to identify shared and private signatures of selection between an Italian breed, Sarda (SAR); and two Croatian breeds, Pag (PAG) and Istrian (IST) sheep. Common genomic regions will give insights into Mediterranean climate adaptations and past crossbreeding, while differences will provide information on specific environmental adaptations and selection pressures. A total of 4,791 (825 SAR, 2,683 PAG, 1,283 IST) sheep were SNP genotyped (40,995 SNP after quality control). Population structure was studied through linkage disequilibrium and admixture. To identify signatures of selection, we used four approaches, runs of homozygosity (ROH), Wright’s fixation index (FST), cross population extended haplotype homozygosity (XP-EEH), and ratio of extended haplotype homozygosity between populations (Rsb). According to FST results, SAR and IST were the most divergent breeds. The latter breed showed the largest ROH-based inbreeding. A large selection signature on chromosome 6 (33.26- 46,31 Mb) was found by all involved approaches as associated with IST. The results of the present study enabled the identification of common and private regions among three Mediterranean sheep breeds raised under similar environmental conditions.<br/
Pathway narratives towards a nature-positive European Union land system:operationalising the Nature Futures Framework for policy objectives
Get PDFThe Nature Futures Framework (NFF) aims to open up space for plural perspectives on human–nature relationships and to identify visions for people to navigate towards desirable nature-positive futures. Operationalising the NFF offers a way to explore alternative pathways to reach these futures, but such applications are currently underdeveloped. Normative narratives can describe pathways towards nature-positive futures based on environmental policy objectives and the diverse values within and across societies. Here, we review the EU’s policy objectives for land systems, biodiversity, climate, and the environment, including the European Green Deal, to identify actions and create pathway narratives at the EU scale that lead to a nature-positive future. Specifically, we developed three pathway narratives along the three NFF value perspectives that are distinct in how they implement actions to achieve EU policy objectives. In Nature for Nature, the restoration of natural processes is prioritised, in Nature as Culture/One with Nature the connection of people with nature is emphasised, and in Nature for Society development focuses on safeguarding ecosystem services. Whilst clear differences in the valuation of nature between the pathway narratives may lead to trade-offs, we also see several potential synergies for meeting policy objectives. These narratives can inform models to quantify NFF-based scenarios to understand the trade-offs and synergies of achieving the EU’s policy objectives on land use, ecosystem provisioning, and quality of life. They can also serve as a basis for the creation of case study narratives within the EU through participatory processes.</p
Burden of cardiovascular diseases in England (2020-24):a national cohort using electronic health records data
Get PDFBACKGROUND: The COVID-19 pandemic led to substantial health services disruption in England. Health-care policy makers need reliable national-level information on disease burden to plan services. Whole-population individual-level data, which are routinely collected and linked across multiple sources, provide comprehensive estimates that can be regularly updated at low cost. We aimed to measure the burden of cardiovascular diseases in the whole population of England from 2020 to 2024.METHODS: Using linked National Health Service England hospital, primary care, death, and specialist registers between Jan 1, 2020, and May 31, 2024, we defined 79 common and rare cardiovascular diseases, and estimated incidence, prevalence, 30-day case fatality, and post-diagnosis rates of myocardial infarction and ischaemic stroke, focusing on five common conditions (myocardial infarction, ischaemic stroke, heart failure, atrial fibrillation, and peripheral vascular disease), as well as pulmonary embolism, myocarditis, and intracranial venous thrombosis. We conducted subgroup analyses based on and adjusted for age, sex, ethnicity, long-term conditions, deprivation, and geographical area.FINDINGS: Analysis of data for 57 406 990 people in England between 2020 and 2024 revealed changes in cardiovascular disease burden. Although incidences after the pandemic were generally stable for the five common diagnoses, myocardial infarction (events per 100 000 person-years: 245·2 vs 216·9; -12%, 95% CI -17 to -6; p=0·0003) and peripheral vascular disease (97·9 vs 86·5; -12%, -21 to -1; p=0·032) showed decreases compared with January to February, 2020. Prevalence increased for ischaemic stroke (1·5% vs 1·8%; +16%, 10 to 21; p<0·0001), heart failure (0·9% vs 1·2%; +25%, 17 to 34; p<0·0001), and atrial fibrillation (2·8% vs 2·9%; +3%; 2 to 5; p=0·0001). There was little change in 30-day case fatality for most common diagnoses before and after the pandemic. Post-diagnosis myocardial infarction and stroke rates from 30 days to 1 year increased for myocardial infarction (events per 100 000 person-years: 18 850 vs 21 289; +13%, 5 to 22; p=0·0023), ischaemic stroke (11 849 vs 13 574; +15%, 7 to 23; p=0·0008), and heart failure (5821 vs 6393; +10%, 1 to 19; p=0·031) after the pandemic. Subgroup analyses indicated higher burdens among older adults, males, deprived populations, people with multiple long-term conditions, and Asian or Black ethnicities. There were clear regional variations in the incidence of stroke, myocardial infarction, heart failure, atrial fibrillation, and peripheral vascular disease.INTERPRETATION: Our study offers new insights into recent cardiovascular disease patterns and reveals important health inequalities at a whole-population scale for multiple cardiovascular diseases, during and after the COVID-19 pandemic. These inequalities are targets for the improvement of cardiovascular health.FUNDING: British Heart Foundation Data Science Centre (Health Data Research UK).</p
Governance of the private health sector in Georgia:A situation analysis using WHO’s Progression Pathway for Governance of Mixed Health Systems
Get PDFSince 2013, Georgia has aimed to achieve universal health coverage by progressively expanding publicly funded benefits. However, with 85% of hospital beds and most primary care clinics, outpatient facilities and pharmacies under private ownership, strong governance is essential to align profit-driven incentives with policy goals. This study examines governance in Georgia, analysing sectoral strategies, regulations, purchasing mechanisms, and public–private dialogue. It is based on a literature review, document analysis, interviews with state authorities, private sector representatives and local experts, and a validation workshop. Although a strategic framework for the health system exists, it lacks sufficient detail to inform private sector investment and resource allocation. Regulatory and purchasing gaps contribute to imbalances in provider distribution and risks to care affordability, quality and appropriateness. Weak institutional mechanisms for inclusive policy dialogue have hindered effective collaboration between stakeholders and failed to address conflicts of interest. To enhance governance, strategic planning must be supported by detailed implementation plans with full budgetary integration. Strengthening the capacity of the state purchaser is crucial to creating the right incentives and holding providers accountable. Transparent and inclusive policy processes are also needed to enhance the design of reforms, facilitate implementation and protect the public interest
Morphine for chronic breathlessness (MABEL) in the UK: a health economic evaluation of a multisite, parallel-group, dose titration, double-blind, randomised, placebo-controlled trial
Get PDFAbstractObjectives To compare costs and health consequences and to assess the cost-effectiveness of using low-dose oral long-acting morphine in people with chronic breathlessness.Design Within-trial planned cost-consequences and cost-effectiveness analysis of data from a multisite, parallel-group, double-blind, randomised, placebo-controlled trial of low-dose, long-acting morphine.Setting 11 hospital outpatients across the UK.Participants Consenting adults with chronic breathlessness due to long-term cardiorespiratory conditions.Intervention 5–10 mg two times a day oral long-acting morphine with a blinded laxative for 56 days.Primary outcome measures Mean and SD of healthcare resource use (HRU) by trial arm; mean differences and 95% CI of costs between trial arms.Secondary outcome measures Mean differences in 28- and 56-day quality-adjusted life years (QALYs based on EuroQol five-dimension five-level score), Short Form-six dimensional scores and ICEpop CAPability-Supportive Care Measure scores; cost-utility of long-acting morphine for chronic breathlessness.Results 143 participants (75 morphine and 67 placebo) were randomised; 140 (90% power, males 66%, mean age 70.5 (SD 9.4)) formed the modified intention-to-treat population (participants receiving at least one dose of study medication). There were more inpatient and fewer outpatient services used by the morphine group versus the placebo. In the base-case analysis at 56 days, long-acting morphine was associated with similar mean per-patient costs and QALYs. There was an increase of £24 (95% CI −£395 to £552) and 0.002 (95% CI −0.004 to 0.008) QALYs. Hospitalisations were the main driver of cost differences. The corresponding incremental cost-effectiveness ratio was £12 000/QALY, with a probability of cost-effectiveness of 54% at a £20 000 willingness-to-pay threshold. In the scenario analysis that excluded costs of adverse events considered unrelated to long-acting morphine by site investigators and researchers, the probability of cost-effectiveness increased to 73%.Conclusion Oral morphine for chronic breathlessness is likely to be a cost-effective intervention provided adverse events are minimised, but the effect on outcome is small and cautious interpretation is warranted
Creative Music Practice PhD - "Framing Freedom : Bandleading in Jazz and Improvised Music" Album Recordings
No full textThis dataset is held in the Edinburgh DataVault, directly accessible only to authorised University of Edinburgh staff. External users may request access to a copy of the data by contacting the Principal Investigator, Contact Person or Data Manager named on this page. Requests for access will not necessarily be granted. University of Edinburgh users who wish to have direct access should consult the information about retrieving data from the DataVault at: https://www.ed.ac.uk/is/research-support/datavault.Creative output from the thesis "Framing Freedom : Bandleading in Jazz and Improvised Music"- 2 Album Recordings with the band Anthropods and IPA Analysis of the 10 bandleader interviews. Anthropods is: Susanna Gartmayer - Bass Clarinet Jakob Gnigler - Tenor Sax Irene Kepl - Violin Clemens Sainitzer - Cello Mark Holub - Drums Compositions by Mark Holub Selt Titled Debut Album - Discus Music - 2022 - Album available from https://discusmusic.bandcamp.com/album/anthropods-117cd-2022 Abundant Shores - Klanggalerie - 2024 - Album available from https://klanggalerie.bandcamp.com/album/abundant-shores These files should only be shared with permission given by Nikki Moran, the supervisor of this PhD project
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