Introduction: People living at home with dementia are often cared for by family members, especially those from minority ethnic groups. Many people living with dementia from minority ethnic communities face barriers to accessing formal care. However, there is a paucity of dementia research, which foregrounds diversity within minority ethnic populations.
View Article and Find Full Text PDFSupporting people to 'age in place' - to live independently at home and remain connected to the community - is an international policy priority. But the process of ageing in place is mediated in a socio-cultural context where neoliberal tropes of successful ageing reproduce a pervasive model about 'ageing well' by elevating ideals of individualised choice and self-governance. Based on two waves of qualitative interviews and interim observations, we employ a Bourdieusian logic to explore the ramifications of this context on the experiences of 46 people in later older age (80+) ageing in place in North East England.
View Article and Find Full Text PDFBackground: Most people want to remain at home as they age. Ageing in place - remaining at home and connected to the community - is a national and international policy priority; however, to better understand how policy might be implemented, a more nuanced understanding is required about older adults' lived experiences of ageing in place, especially the experiences of those aged 80 and above.
Objective: To describe and explore the social processes which enable ageing in place from the perspective of community-dwelling older people (80+).
Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated.
View Article and Find Full Text PDFThe metal borides, HfMOsB (M = Mn, Fe, Co), which are the first Os-rich quaternary variants of the prolific TiCoB structure type, were investigated computationally and experimentally. In their crystal structures, osmium builds a network of prisms, in which the other elements are located. The magnetic M elements are found in face-connected Os square prisms leading to M-chains with intra- and interchain distances of about 3.
View Article and Find Full Text PDFRecent years have seen an influx of technologies aimed at enabling older people to remain at home. Remote monitoring is one such technology. By tracking the body as it moves through time and space, remote monitoring enables a care connection which transcends the physical boundaries of the home.
View Article and Find Full Text PDFBackground: Social prescribing involves referral of patients from primary care to link workers, who work with them to access appropriate local voluntary and community sector services.
Aim: To explore how a social prescribing intervention was delivered by link workers and the experiences of those referred to the intervention.
Design And Setting: The study used ethnographic methods to conduct a process evaluation of a social prescribing intervention delivered to support those living with long-term conditions in an economically deprived urban area of the North of England.
Background: Link worker social prescribing enables health-care professionals to address patients' non-medical needs by linking patients into various services. Evidence for its effectiveness and how it is experienced by link workers and clients is lacking.
Objectives: To evaluate the impact and costs of a link worker social prescribing intervention on health and health-care costs and utilisation and to observe link worker delivery and patient engagement.
Familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2) are due to loss- and gain-of-function mutations, respectively, of the GNA11 gene that encodes the G protein subunit Gα11, a signaling partner of the calcium-sensing receptor (CaSR). To date, four probands with FHH2-associated Gα11 mutations and eight probands with ADH2-associated Gα11 mutations have been reported. In a 10-year period, we identified 37 different germline GNA11 variants in >1200 probands referred for investigation of genetic causes for hypercalcemia or hypocalcemia, comprising 14 synonymous, 12 noncoding, and 11 nonsynonymous variants.
View Article and Find Full Text PDFLink worker social prescribing has become a prominent part of NHS England's personalisation agenda. However, approaches to social prescribing vary, with multiple discourses emerging about the potential of social prescribing and different interpretations of personalisation. The transformational promise of social prescribing is the subject of ongoing debate, whilst the factors that shape the nature of front-line link working practices remain unclear.
View Article and Find Full Text PDFOculo-auriculo-vertebral syndrome (OAVS) is a clinically heterogeneous disorder, with both genetic and environmental contributors. Multiple genes have been associated with OAVS and common molecular pathways, such as retinoic acid and the PAX-SIX-EYA-DACH (PSED) network, are being implicated in the disease pathophysiology. Biallelic homozygous nonsense or hypomorphic missense mutations in PAX1 cause otofaciocervical syndrome type 2 (OTFCS2), a similar but more severe multi-system disorder that can be accompanied by severe combined immunodeficiency due to thymic aplasia.
View Article and Find Full Text PDFSocial prescribing, a way of connecting patients to local services, is central to the NHS Personalised Care agenda. This paper employs ethnographic data, generated with 19 participants between November 2018 and July 2020, to explore the socio-temporal relations shaping their experiences of a local social prescribing intervention. Our focus is on the ways in which the intervention synchronised with the multitude of shifting, complex and often contradictory 'timespaces' of our participants.
View Article and Find Full Text PDFPhaeocystis globosa is an ecologically important haptophyte that can form harmful algal blooms (HABs). In this study, we used 16S rDNA V3-V4 amplicon sequencing data to explore the ecological mechanisms underlying a P. globosa bloom in the Beibu Gulf, China.
View Article and Find Full Text PDFThe COVID-19 pandemic and 'lockdown' restrictions have affected people's health and wellbeing globally. Those who are clinically vulnerable to COVID-19 mortality due to living with long term conditions (LTCs) are at greater risk of negative impacts on their health and wellbeing, and of disruption in management of their LTCs. This study explores how people with LTCs managed their health and wellbeing under social distancing restrictions and self-isolation during the first wave of the COVID-19 pandemic, and examines why some people were more able to manage than others.
View Article and Find Full Text PDFGlobally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven children from five unrelated kindreds of western Polynesian ancestry who suffered from severe viral diseases. All the patients are homozygous for the same nonsense IFNAR1 variant (p.
View Article and Find Full Text PDFBackground: COVID-19 public health restrictions, such as social distancing and self-isolation, have been particularly challenging for vulnerable people with health conditions and/or complex social needs. Link worker social prescribing is widespread in the UK and elsewhere and is regarded as having the potential to provide support to vulnerable people during the pandemic. This qualitative study explores accounts of how an existing social prescribing service adapted to meet clients' needs in the first wave of the pandemic, and of how clients experienced these changes.
View Article and Find Full Text PDFThe co-occurrence of COVID-19, non-communicable diseases and socioeconomic disadvantage has been identified as creating a syndemic: a state of synergistic epidemics, occurring when co-occurring health conditions interact with social conditions to amplify the burden of disease. In this study, we use the concept of illness management work to explore the impact of the COVID-19 pandemic on the lives of people living with, often multiple, chronic health conditions in a range of social circumstances. In-depth interviews were conducted between May and July 2020 with 29 participants living in a city in North East England.
View Article and Find Full Text PDFHerbivore grazing is an important determinant of plant community assemblages. Thus, it is essential to understand its impact to direct conservation efforts in regions where herbivores are managed. While the impacts of reindeer () grazing on plant biodiversity and community composition in the Fennoscandian tundra are well studied, the impact of reindeer grazing on phylogenetic community structure is not.
View Article and Find Full Text PDFN Engl J Med
November 2021
Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.
View Article and Find Full Text PDFAccumulating evidence indicates that the haptophyte species Phaeocystis globosa, which plays an important role in climate control and may cause harmful algal blooms (HABs), displays a rich genetic diversity that may be responsible for differences in colonial sizes, different toxicity during blooms, and differential optimum growth temperature. In this project, we demonstrated that COX1 can be used as an effective molecular marker for its low intra-genome variations and high resolution in differentiating different P. globosa strains.
View Article and Find Full Text PDFAlthough the occurrences of harmful algal blooms (HABs) have been intensifying, many HABs in coastal waters may have been neglected despite their damaging impact directly on ecology and indirectly on human and animal health. The current detection of HABs depends primarily on the water coloration, chlorophyll intensity, cell density, and mortality due to HAB toxicity. Such methods may not be adequately sensitive to detecting HABs that are relatively transient or small scale.
View Article and Find Full Text PDFThe coastal region of the East China Sea (ECS) is a famous "hotspot" for harmful algal blooms (HABs) in China. We hypothesize that such frequent occurrences of diverse HABs in the ECS are determined by the presence of unique HAB species in this region. In this project, we identified 3966 amplicon sequence variants (ASVs) representing 35 classes in six protist phyla/divisions.
View Article and Find Full Text PDFSocial prescribing, characterised by a link worker connecting patients with local groups and services, is currently being widely implemented in the UK. Taking clients' experiences of a social prescribing intervention in the North of England between November 2019 and July 2020 as its focus, this paper employs ethnographic methods to explore the complex social contexts in which social prescribing is delivered. Building on Bourdieusian approaches to class, we concentrate on four case studies to offer a theoretically-grounded analysis which attends to the relationship between everyday contexts and the classed processes by which health capital may be accrued.
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