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Prader Willi syndrome: an update on the multidisciplinary approach
No full textPrader-Willi syndrome (PWS) is a rare genetic disorder characterized by hypotonia, hyperphagia, obesity, and a spectrum of cognitive and behavioural issues. Clinical manifestations differ according to the age of presentation and as such a multidisciplinary approach is important across the lifespan to improve outcomes. Often this may be led by paediatric endocrinology but should include input from dietetics, psychology, respiratory, speech and language and others according to clinical need. It is likely these needs will change as the child grows and, as such, the composition of the team should remain flexible. Overall, a comprehensive, multidisciplinary approach encompassing medical, nutritional, behavioural, and educational support is essential for managing individuals with PWS, significantly improving the quality of life and long-term outcomes for affected children and their families
War and dependent state formation in Ukraine
Get PDFThis article examines the relationship between war-making and state-making in post-invasion Ukraine drawing on research among Ukrainian forced migrants in Romania and with Ukrainian military crowdfunding organizations. We argue that Ukraine is undergoing a process of dependent state formation. In the context of the war, the Ukrainian state has significantly expanded its military and political power while remaining economically dependent on foreign aid. The need to generate revenues for the war has pushed the state to become more extractive, in turn undermining its legitimacy and ideological power vis-à-vis its citizens domestically and abroad. In this way, even over a relatively short period of time, the war has become a site of institutional transformations in Ukraine
Successful management of a suspected air embolism during anaesthesia in a dog undergoing thoracic limb amputation
Get PDFAn eleven-year-old, male, castrated, Springer Spaniel dog presented for right thoracic limb amputation due to chronic lameness. The dog was otherwise healthy. During brachial plexus dissection, end-tidal carbon dioxide dropped from 6.3 kPa to 1.3 kPa (47–10 mmHg) over 30 seconds, heart rate and spontaneous respiratory rate increased, and peripheral arterial haemoglobin oxygen saturation decreased from 98% to 78%. Initial patient assessment excluded equipment malfunction and cardiopulmonary arrest, prompting interdisciplinary conversation and targeted diagnostics. Arterial blood gas analysis, combined with the surgeons locating an entrainment point for air in the axillary vein, substantiated a diagnosis of vascular air embolism. Coordinated multidisciplinary interventions restored cardiorespiratory parameters within 40 minutes. The surgery was completed, and the dog was successfully discharged. This report highlights the risk of venous air embolism during limb amputation and the importance of early recognition
Developing an AI framework for learning in higher education: a humanities perspective from English Literature
No full textLittle is known about how to develop frameworks for using AI to support learning in English Literature within higher education. This paper presents research that developed a framework for employing AI in the study of the fourteenth-century English poet Geoffrey Chaucer. Studying Chaucer presents challenges for modern readers, as it requires an understanding of his literary style, spoken Middle English, and the cultural and social context of the late medieval period. The research investigated how AI tools, such as ChatGPT and Amazon Polly, could support the study of Chaucer. It found that while AI can assist with students’ initial familiarisation with Chaucer’s poetry, it lacks the depth and rigour necessary for more advanced study. As a result, students and lecturers still rely on traditional resources, including authoritative print-based and digital scholarly editions. Consequently, the research developed a framework for studying Chaucer's poetry that integrates the guided use of AI through active learning with additional supporting resources, such as digital scholarly editions
RadioMe: an automated home-based radio, music playlist, and diary reminder system: Report on recruitment, music compilation, and listening, and preliminary testing of heart rate activated music
Get PDFBackground:
One of the leading reasons for early admission to a care home in dementia is the escalation of neuropsychiatric symptoms (NPS), and music listening can help regulate these symptoms.
Aims:
RadioMe was a project designed for people living at home with dementia to build a system to help them maintain the highest quality of life there for as long as possible, with three functional components: 1. Streaming radio; 2. Providing pre-recorded spoken diary reminders; 3. interrupting the radio with pre-compiled playlists when a wrist-worn heart rate (HR) monitor detects stress. This article reports on the first two stages of this three-stage project: 1. recruitment, the music compilation process, responses of participants when listening, collection of daily agitation HR and behavioural data, and 2. preliminary testing of HR-activated music.
Materials and methods:
In stage 1, a playlist compilation process was co-designed with a lived experience group; HR and behavioural data were collected by participants when agitated to refine the algorithm used for automated music activation; 15 home visits were conducted to compile and test the playlists, collecting video, HR, and autobiographical data in each session to inform on playlist suitability for NPS management. Stage 2 involved installing systems to test automated playlist activation, and informal feedback was gathered on system functionality and user experience.
Findings:
The music compilation process enabled the creation of bespoke playlists. Sessional HR and video data had limited utility in supporting the suitability of music for NPS management. The methodology for collecting agitation data from participants failed, and the algorithm was not refined. Researchers compiled playlists with 25 people living with dementia, with a mean age of 73.8 years ( n = 12 men, 13 women). Ten participants had systems installed to test automated music activation. They found it too complex; system calibration was not sensitive enough, music played at random times, and it became repetitive. The system needs extensive refinement to simplify its operation. The activation of the music needs to be better calibrated. A feasible and effective method of gathering data from participants in their homes is required to refine the algorithm, which must include HR/biodata during milder NPS events, as participants reported these to be more in line with their symptoms
Global, regional, and national burden of cardiovascular diseases and risk factors in 204 countries and territories, 1990-2023
Get PDFBACKGROUND: Cardiovascular diseases (CVDs) are the leading cause of mortality and are among the foremost causes
of disability globally. CVD burden has continued to increase in most countries since 1990, with trends driven by
changing exposures to harmful risk factors, population growth, and population aging.
OBJECTIVES: We report estimates of global, national, and subnational CVD burden, including 18 subdiseases and
12 associated modifiable risk factors. We analyzed change in CVD burden from 1990 to 2023 and identified drivers of
change including population growth, population aging, and risk factor exposure.
METHODS: The Global Burden of Disease (GBD) 2023 study, a multinational collaborative research study, quantified
burden due to 375 diseases including CVD burden and identified drivers of change from 1990 to 2023 using all available
data and statistical models. GBD 2023 estimated the population-level burden of diseases in 204 countries and territories
from 1990 to 2023.
RESULTS: CVDs were the leading cause of disability-adjusted life years (DALYs) and deaths estimated in the GBD. As of
2023, there were 437 million (95% UI: 401 to 465 million) CVD DALYs globally, a 1.4-fold increase from the number in
1990 of 320 million (292 to 344 million). Ischemic heart disease, intracerebral hemorrhage, ischemic stroke, and hypertensive heart disease were the leading cardiovascular causes of DALYs in 2023 globally. As of 2023, agestandardized CVD DALY rates were highest in low and low-middle Socio-demographic Index (SDI) settings and lowest in
high SDI settings. The number of CVD deaths increased globally from 13.1 million (95% UI: 12.2 to 14.0 million) in 1990
to 19.2 million (95% UI: 17.4 to 20.4 million) in 2023. The number of prevalent cases of CVD more than doubled since
1990, with 311 million (95% UI: 294 to 333 million) prevalent cases of CVD in 1990 and 626 million (95% UI: 591 to 672
million) prevalent cases in 2023 globally. A total of 79.6% (95% UI: 75.7% to 82.5%) of CVD burden is attributable to
modifiable risk factors 347 million [95% UI: 318 to 373 million] DALYs in 2023). Globally, high systolic blood pressure,
dietary risks, high low-density lipoprotein cholesterol, and air pollution were the modifiable risks responsible for most
attributable CVD burden in 2023. Since 1990, changes in exposure to modifiable risk factors have had mixed effects on
CVD burden, with increases in high body mass index, high fasting plasma glucose, and low physical activity leading to
higher burden, while reductions in tobacco usage have mitigated some of these increases. Population growth and
population aging were the main drivers of the increasing burden since 1990, adding 128 million (95% UI: 115 to 139
million) and 139 million (95% UI: 126 to 151 million) CVD DALYs to the increase in CVD burden since 1990.
CONCLUSIONS: CVD remains the leading cause of disease burden and death worldwide with the greatest burden in
low, low-middle, and middle SDI regions. Large variation exists in CVD burden even for countries at similar levels of
development, a gap explained substantially by known, modifiable risk factors that are inadequately controlled. The
decades-long increase in CVD burden was the result of population growth, population aging, and increased exposure to a
subset of risk factors led by metabolic risks. Countries will need to adopt effective health system and public health
strategies if they are to progress in achieving global goals to reduce the burden of CVD
Older autistic people and ICT: experiences, attitudes and support needs
No full textThe paper presents new empirical data on the experiences, attitudes to technology and support needs of 78 autistic people aged 50–79. The mixed methods approach involved parallel qualitative and quantitative data collection from a single survey instrument. The work makes a significant contribution to the scarce literature on older autistic people and, in particular, the almost non-existent literature on older autistic people and information and communication technology (ICT) use. It provides both statistical data and gives older autistic people a voice through direct quotes from them, which show them making choices about ICT use and experiencing barriers due to poor technology design, which does not take into account their sensory and other accessibility requirements. They strongly preferred websites on laptops or desktops to other options, followed by apps on smartphones and were interested in a number of customisation options, linked to managing sensory issues and making information easier to see. 50–59 year old participants had greater technology experience and expertise, greater interest in the proposed technology solutions and stronger preferences for most of the proposed customisation options than 60–79 year old ones and most of the differences were statistically significant
The prognostic and predictive impact of circulating tumour DNA levels in patients with advanced breast cancer enrolled on the plasmaMATCH trial
Get PDFPurpose: Circulating tumour DNA(ctDNA) dynamic levels may identify patients who will respond to therapy. We assessed ctDNA baseline levels and on-treatment dynamics in advanced breast cancer patients on the plasmaMATCH trial with mutation targeted therapies(cohorts A-D),and triple-negative breast cancer(TNBC) on olaparib and ceralasertib combination(cohort E). Experimental Design: Blood samples were collected at baseline(C1D1),and before treatment on cycle2day1(C2D1). Samples were sequenced using error-corrected targeted panels(Guardant360/GuardantOMNI). Circulating DNA ratio(CDR) was calculated as the ratio of C2D1/C1D1.CDR, and baseline ctDNA levels,were associated with progression free survival (PFS) and confirmed objective response rates (ORR). Results: 167 patients had assessable C1D1-C2D1 ctDNA results. There was a strong association between baseline ctDNA levels and response in cohort E;low baseline levels were associated with longer PFS (HR 0.33,p=0.001),and higher ORR (40%vs9.7%,p=0.02). In cohorts A-D there was a weaker association with PFS(HR0.60,p=0.03) and ORR(15.2%vs5.7%,p=0.17). Associations of baseline ctDNA level and ORR were validated in the independent PEARL study. For on-treatment dynamics, suppression of ctDNA below median was predictive in cohorts A-D (HR0.47, p=0.001), but not in cohort E(HR1.02, p=0.94). Undetectable ctDNA levels at C2D1 was associated with good outcomes in both cohorts, in cohort E with improved PFS(HR0.25,p=0.01) and improved ORR(86%vs11%,p=0.01). 6/7 patients with undetectable on-treatment ctDNA were BRCA1/BRCA2/PALB2 wildtype. Conclusions: Baseline low ctDNA levels predict response to targeted therapy, potentially suggesting shared mechanisms between high ctDNA release and resistance to therapy. Both baseline ctDNA levels and on-treatment dynamics are a promising surrogate endpoint for drug development, with clearance of ctDNA being a robust cross-therapy surrogate for outcome
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