GM1-gangliosidosis (GM1) is a lysosomal storage disorder caused by mutations in the galactosidase beta 1 gene () that leads to reduced β-galactosidase (β-gal) activity. This enzyme deficiency results in neuronal degeneration, developmental delay, and early death. A sensitive assay for the measurement of β-gal enzyme activity is required for the development of disease-modifying therapies.
View Article and Find Full Text PDFLong-COVID prevalence estimates vary widely and should take account of symptoms that would have occurred anyway. Here we determine the prevalence of symptoms attributable to SARS-CoV-2 infection, taking account of background rates and confounding, in a nationwide population cohort study of 198,096 Scottish adults. 98,666 (49.
View Article and Find Full Text PDFBackground: Having a good start in life during pregnancy and infancy has been shown to be important for living both a healthy life and a longer life. Despite the introduction of many policies for the early-years age group, including voucher schemes, with the aim of improving nutrition, there is limited evidence of their impact on health.
Objectives: To assess the effectiveness of the Healthy Start voucher scheme on infant, child and maternal outcomes, and to capture the lived experiences of the Healthy Start voucher scheme for low-income women.
Previous studies on the natural history of long-COVID have been few and selective. Without comparison groups, disease progression cannot be differentiated from symptoms originating from other causes. The Long-COVID in Scotland Study (Long-CISS) is a Scotland-wide, general population cohort of adults who had laboratory-confirmed SARS-CoV-2 infection matched to PCR-negative adults.
View Article and Find Full Text PDFWith increasing numbers infected by SARS-CoV-2, understanding long-COVID is essential to inform health and social care support. A Scottish population cohort of 33,281 laboratory-confirmed SARS-CoV-2 infections and 62,957 never-infected individuals were followed-up via 6, 12 and 18-month questionnaires and linkage to hospitalization and death records. Of the 31,486 symptomatic infections,1,856 (6%) had not recovered and 13,350 (42%) only partially.
View Article and Find Full Text PDFBackground: As digital tools are increasingly used to support COVID-19 contact tracing, the equity implications must be considered. As part of a study to understand the public's views of digital contact tracing tools developed for the national 'Test and Protect' programme in Scotland, we aimed to explore the views of groups often excluded from such discussions. This paper reports on their views about the potential for contact tracing to exacerbate inequalities.
View Article and Find Full Text PDFObjective: To investigate how the type and number of long-term conditions (LTCs) impact on all-cause mortality and major adverse cardiovascular events (MACE) in people with rheumatoid arthritis (RA).
Design: Population-based longitudinal cohort study.
Setting: UK Biobank.
Growth-arrested strategies (e.g. hypothermia and hyperosmolarity) have been widely employed to enhance cell-specific productivity (qP) in mammalian cell culture bioprocess.
View Article and Find Full Text PDFThough new or altered bodily sensations are a common occurrence they rarely transition to biomedically defined symptoms. When they do, sensations are subject to an appraisal process that can culminate in help-seeking. The transition has particular relevance for cancer diagnoses.
View Article and Find Full Text PDFBackground: Dementia prevalence is increasing as populations live longer, with no cure and the costs of caring exceeding many other conditions. There is increasing evidence for modifiable risk factors which, if addressed in mid-life, can reduce the risk of developing dementia in later life. These include physical inactivity, low cognitive activity, mid-life obesity, high blood pressure, and high cholesterol.
View Article and Find Full Text PDFHow and when we use health services or healthcare provision has dominated exploration of and debates around healthcare access. Levels of utilisation are assumed as a proxy for access. Yet, focusing on utilisation conceals an important aspect of the access conundrum: the relationships that patients and potential patients have with the healthcare system and the professionals within those systems.
View Article and Find Full Text PDFObjective: To identify implementation lessons from the United Kingdom Delivering Assisted Living Lifestyles at Scale (dallas) program-a large-scale, national technology program that aims to deliver a broad range of digital services and products to the public to promote health and well-being.
Materials And Methods: Prospective, longitudinal qualitative research study investigating implementation processes. Qualitative data collected includes semi-structured e-Health Implementation Toolkit-led interviews at baseline/mid-point (n = 38), quarterly evaluation, quarterly technical and barrier and solutions reports, observational logs, quarterly evaluation alignment interviews with project leads, observational data collected during meetings, and ethnographic data from dallas events (n > 200 distinct pieces of qualitative data).
Lack of health professional support is an important variable affecting mothers' achievement of breastfeeding goals. Online continuing education is a recognized pathway for disseminating content for improving clinicians' knowledge and supporting efforts to change practices. At the time we developed our project, free, accredited continuing education for physicians related to breastfeeding management that could be easily accessed using portable devices (via tablets/smartphones) was not available.
View Article and Find Full Text PDFThere is growing evidence that activation of metabotropic glutamate receptor 4 (mGlu4) leads to anxiolytic- and antipsychotic-like efficacy in rodent models, yet its relevance to depression-like reactivity remains unclear. Here, we present the pharmacological evaluation of ADX88178 [5-methyl-N-(4-methylpyrimidin-2-yl)-4-(1H-pyrazol-4-yl)thiazol-2-amine], a novel potent, selective, and brain-penetrant positive allosteric modulator of the mGlu4 receptor in rodent models of anxiety, obsessive compulsive disorder (OCD), fear, depression, and psychosis. ADX88178 dose-dependently reduced the number of buried marbles in the marble burying test and increased open-arm exploration in the elevated plus maze (EPM) test, indicative of anxiolytic-like efficacy.
View Article and Find Full Text PDFBackground: Those with advanced heart failure (HF) experience high levels of morbidity and mortality, similar to common cancers. However, there remains evidence of inequity of access to palliative care services compared to people with cancer. This study examines patient, carer, and professional perspectives on current management of advanced HF and barriers and facilitators to improved care.
View Article and Find Full Text PDFAdenosine A2A receptors are predominantly localized on striatopallidal gamma-aminobutyric acid (GABA) neurons, where they are colocalized with dopamine D2 receptors and are involved in the regulation of movement. Adenosine A2A receptor antagonists have been evaluated as a novel treatment for Parkinson's disease and have demonstrated efficacy in a broad spectrum of pharmacological and toxicological rodent and primate models. Fewer studies have been performed to evaluate the efficacy of adenosine A2A receptor antagonists in genetic models of hypodopaminergic states.
View Article and Find Full Text PDFDual orexin receptor antagonists (DORAs) are a potential treatment for insomnia that function by blocking both the orexin 1 and orexin 2 receptors. The objective of the current study was to further confirm the impact of therapeutic mechanisms targeting insomnia on locomotor coordination and ethanol interaction using DORAs and gamma-aminobutyric acid (GABA)-A receptor modulators of distinct chemical structure and pharmacological properties in the context of sleep-promoting potential. The current study compared rat motor co-ordination after administration of DORAs, DORA-12 and almorexant, and GABA-A receptor modulators, zolpidem, eszopiclone, and diazepam, alone or each in combination with ethanol.
View Article and Find Full Text PDFSupport Care Cancer
February 2014
Background: People living with colorectal cancer are at risk of anxiety and depression. We investigated what factors were most highly associated with these.
Methods: Four hundred and ninety-six people with colorectal cancer completed the Hospital Anxiety and Depression Scale (HADS).
Objectives: To develop and pilot a theory and evidence-based intervention to improve quality of life (QoL) in people with colorectal cancer.
Design: A complex intervention development study.
Setting: North East Scotland and Glasgow.