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BACKGROUND: 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+). METHODS: Forty-six respondents (80-100+ years) participated in the first wave of a longitudinal qualitative study set in North East England. Semi-structured interviews were conducted in participants' homes between June 2022 and January 2023. Interviews were analysed using reflexive thematic analysis. RESULTS: Participants positioned their homes as a place of freedom and as the antithesis of a 'care home'. Remaining in place was important for all participants; a key priority for them was to remain physically active to enable this. However, many participants faced significant hurdles to remaining in place. These were primarily related to health and mobility issues. Some participants were able to overcome such barriers by drawing on financial resources and available social networks. CONCLUSION: The home is central to understanding older peoples' (80+) experiences of ageing. In a socio-political context which promotes ageing in place, the social factors shaping experiences of ageing in place must be considered. This involves attending to the challenges of later life, particularly health and especially mobility and physical function. Currently, those with resources (social and economic) are better equipped to respond to such challenges, thus potentially exacerbating widening inequalities in ageing. By foregrounding the perspectives of those ageing in place alongside social factors shaping their experiences, our study has important implications for policy and health and social care. We show that a more equitable allocation of resources is vital to fulfil the ageing in place policy agenda. Furthermore, we highlight a need to recognise commitments to ageing in place displayed by people aged 80 and above, especially when remaining in place becomes difficult to achieve.
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Vida Independiente , Investigación Cualitativa , Humanos , Estudios Longitudinales , Anciano de 80 o más Años , Masculino , Femenino , Vida Independiente/psicología , Inglaterra/epidemiología , Envejecimiento/psicología , Envejecimiento/fisiologíaRESUMEN
There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on clinical care in a diverse population drawn from both high-income countries (HICs) and low- and middle-income countries (LMICs) has not been investigated. The iHope program, a philanthropic cGS initiative, established a network of 24 clinical sites in eight countries through which it provided cGS to individuals with signs or symptoms of an RGD and constrained access to molecular testing. A total of 1,004 individuals (median age, 6.5 years; 53.5% male) with diverse ancestral backgrounds (51.8% non-majority European) were assessed from June 2016 to September 2021. The diagnostic yield of cGS was 41.4% (416/1,004), with individuals from LMIC sites 1.7 times more likely to receive a positive test result compared to HIC sites (LMIC 56.5% [195/345] vs. HIC 33.5% [221/659], OR 2.6, 95% CI 1.9-3.4, p < 0.0001). A change in diagnostic evaluation occurred in 76.9% (514/668) of individuals. Change of management, inclusive of specialty referrals, imaging and testing, therapeutic interventions, and palliative care, was reported in 41.4% (285/694) of individuals, which increased to 69.2% (480/694) when genetic counseling and avoidance of additional testing were also included. Individuals from LMIC sites were as likely as their HIC counterparts to experience a change in diagnostic evaluation (OR 6.1, 95% CI 1.1-∞, p = 0.05) and change of management (OR 0.9, 95% CI 0.5-1.3, p = 0.49). Increased access to genomic testing may support diagnostic equity and the reduction of global health care disparities.
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Pruebas Genéticas , Enfermedades Raras , Secuenciación Completa del Genoma , Humanos , Masculino , Enfermedades Raras/genética , Enfermedades Raras/diagnóstico , Femenino , Niño , Pruebas Genéticas/métodos , Preescolar , Adolescente , Adulto , Lactante , Enfermedades Genéticas Congénitas/genética , Enfermedades Genéticas Congénitas/diagnósticoRESUMEN
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. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.
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Anemia Hemolítica Congénita no Esferocítica , Intrones , Piruvato Quinasa , Errores Innatos del Metabolismo del Piruvato , Humanos , Piruvato Quinasa/deficiencia , Piruvato Quinasa/genética , Masculino , Femenino , Errores Innatos del Metabolismo del Piruvato/genética , Niño , Preescolar , Anemia Hemolítica Congénita no Esferocítica/genética , Turquía , Lactante , Adolescente , MutaciónRESUMEN
The metal borides, Hf2MOs5B2 (M = Mn, Fe, Co), which are the first Os-rich quaternary variants of the prolific Ti3Co5B2 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 Os8 square prisms leading to M-chains with intra- and interchain distances of about 3.0 and 6.5 Å, respectively. Density functional theory (DFT) showed that magnetic ordering is hugely favored for M = Mn and Fe but only slightly favored for M = Co. Experimental investigations then confirmed and extended the DFT predictions as a metamagnetic behavior was found for the M = Mn and Fe phases, whereby the antiferromagnetic interactions (TN = 19 and 90 K) found at low magnetic fields change to ferromagnetic at higher fields. A very broad transition (TN = 45 K) is found for M = Co, suggesting spin-glass behavior for this phase. For M = Fe, a hard-magnet hysteresis at 5 K is found with a 40 kA/m coercivity, and even at room temperature, a significant hysteresis is found. This study paves the way for the discovery of Os-based magnets in this structure type and other intermetallics.
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OBJECTIVE: Whether angiotensin II blockade is an effective medical treatment for abdominal aortic aneurysms (AAAs) has not been established. This systematic review and meta-analysis aimed to determine the association between angiotensin converting enzyme inhibitor (ACEi) or angiotensin receptor blocker (ARB) prescription and AAA growth and events. DATA SOURCES: MEDLINE, Embase, Scopus, Web of Science, and the Cochrane Library databases were searched from their inception to 4 January 2024, with no language restrictions. REVIEW METHODS: The five databases were searched for randomised controlled trials (RCTs) and observational studies reporting the association between ACEi or ARB prescription and AAA growth, repair, or rupture. The primary outcome was AAA growth, with secondary outcomes of AAA rupture, AAA repair, and AAA related events (rupture and repair combined). Risk of bias was assessed using the Risk of Bias 2 tool for RCTs and with a modified Newcastle-Ottawa scale for observational studies. Certainty of evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE). Random effects models were used for meta-analyses. RESULTS: Eleven studies (two RCTs, eight observational studies, and one meta-analysis of individual patient data from seven populations) involving 58 022 patients were included. ACEi prescription was not associated with a statistically significant reduction in AAA growth (standard mean difference 0.01 mm/year, 95% confidence interval [CI] -0.26 - 0.28; p = .93; I2 = 98%) or AAA repair (odds ratio [OR] 0.73, 95% CI 0.50 - 1.09; p = .65; I2 = 61%), but was associated with a statistically significantly lower risk of AAA rupture (OR 0.87, 95% CI 0.81 - 0.93; p < .001; I2 = 26%) and AAA related events (OR 0.82, 95% CI 0.72 - 0.95; p = .006; I2 = 80%). ARB prescription was not associated with significantly reduced AAA growth or a lower risk of AAA related events. The two RCTs had a low risk of bias, with one observational study having low, seven moderate, and one high risk of bias. All of the findings had a very low certainty of evidence based on the GRADE analysis. CONCLUSION: There was no association between ACEi or ARB prescription and AAA growth, but ACEi prescription was associated with a reduced risk of AAA rupture and AAA related events with very low certainty of evidence.
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Antagonistas de Receptores de Angiotensina , Inhibidores de la Enzima Convertidora de Angiotensina , Aneurisma de la Aorta Abdominal , Aneurisma de la Aorta Abdominal/epidemiología , Humanos , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Inhibidores de la Enzima Convertidora de Angiotensina/efectos adversos , Antagonistas de Receptores de Angiotensina/uso terapéutico , Antagonistas de Receptores de Angiotensina/efectos adversos , Rotura de la Aorta/prevención & control , Rotura de la Aorta/etiología , Rotura de la Aorta/epidemiología , Progresión de la Enfermedad , Factores de Riesgo , Resultado del TratamientoRESUMEN
Recent 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. Based on 43 interviews conducted with 21 older people trialling remote monitoring, this study critically explores how older people integrate (or not) remote monitoring into the material and symbolic fabric of their homes. Drawing on the concept of domestication alongside materialities of care, we explore the active ways in which participants make sense of, and incorporate, remote monitoring into the intimacy of their homes. We find that domesticating remote monitoring, an apparently mundane and ordinary object, is a complex and conflicting process which has consequences for the ageing body. Through its domestication, remote monitoring occupies an ambiguous symbolic and material position at the intersection of public and private. While the rationale behind remote monitoring is to minimise physical risk, we find that its proximity to intimacy and its capacity to 'monitor' everyday practice poses symbolic and social risks to people's sense of home and their identities. Our findings highlight how ageing bodies are mediated and reconfigured through these technologies and how ageing bodies are potentially viewed as in decline and/or risky. Remote monitoring was viewed as a 'safety net'; however, acknowledging that safety was a concern, simultaneously positioned participants as 'at risk', a category associated with decline and dependency. Once incorporated into the home, the technology represented an 'active ageing' gaze which, through its imagined capacity to judge, risked disrupting the flow of everyday routines; it elicited a heightened awareness of otherwise taken-for-granted practices. Despite this, for some participants, remote monitoring was appropriated to enact care for others, a way to alleviate the emotional labour of family members, and thus refute normative assumptions underpinning remote monitoring about older people as passive recipients of care. Remote monitoring is not passively incorporated into the domestic setting. On the contrary, older people actively assign symbolic meaning to it.
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Envejecimiento , Domesticación , Humanos , Anciano , Envejecimiento/psicologíaRESUMEN
BACKGROUND: 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. METHOD: Participant observation, shadowing, interviews, and focus groups were used to examine the experiences and practices of 20 link workers and 19 clients over a period of 19 months. RESULTS: Social prescribing provided significant help for some people living with long-term health conditions. However, link workers experienced challenges in embedding social prescribing in an established primary care and voluntary sector landscape. The organisations providing social prescribing drew on broader social discourses emphasising personal responsibility for health, which encouraged a drift towards an approach that emphasised empowerment for lifestyle change more than intensive support. Pressures to complete assessments, required for funding, also encouraged a drift to this lighter-touch approach. A focus on individual responsibility was helpful for some clients but had limited capacity to improve the circumstances or health of those living in the most disadvantaged circumstances. CONCLUSION: Careful consideration of how social prescribing is implemented within primary care is required if it is to provide the support needed by those living in disadvantaged circumstances.
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Antropología Cultural , Bienestar Social , Humanos , Inglaterra , Grupos Focales , Conducta SocialRESUMEN
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. Data sources: Quality Outcomes Framework and Secondary Services Use data. Design: Multimethods comprising (1) quasi-experimental evaluation of effects of social prescribing on health and health-care use, (2) cost-effectiveness analysis, (3) ethnographic methods to explore intervention delivery and receipt, and (4) a supplementary interview study examining intervention impact during the first UK COVID-19 lockdown (April-July 2020). Study population and setting: Community-dwelling adults aged 40-74 years with type 2 diabetes and link workers in a socioeconomically deprived locality of North East England, UK. Intervention: Link worker social prescribing to improve health and well-being-related outcomes among people with long-term conditions. Participants: (1) Health outcomes study, approximately n = 8400 patients; EuroQol-5 Dimensions, five-level version (EQ-5D-5L), study, n = 694 (baseline) and n = 474 (follow-up); (2) ethnography, n = 20 link workers and n = 19 clients; and COVID-19 interviews, n = 14 staff and n = 44 clients. Main outcome measures: The main outcome measures were glycated haemoglobin level (HbA1c; primary outcome), body mass index, blood pressure, cholesterol level, smoking status, health-care costs and utilisation, and EQ-5D-5L score. Results: Intention-to-treat analysis of approximately 8400 patients in 13 intervention and 11 control general practices demonstrated a statistically significant, although not clinically significant, difference in HbA1c level (-1.11 mmol/mol) and a non-statistically significant 1.5-percentage-point reduction in the probability of having high blood pressure, but no statistically significant effects on other outcomes. Health-care cost estimates ranged from £18.22 (individuals with one extra comorbidity) to -£50.35 (individuals with no extra comorbidity). A statistically non-significant shift from unplanned (non-elective and accident and emergency admissions) to planned care (elective and outpatient care) was observed. Subgroup analysis showed more benefit for individuals living in more deprived areas, for the ethnically white and those with fewer comorbidities. The mean cost of the intervention itself was £1345 per participant; the incremental mean health gain was 0.004 quality-adjusted life-years (95% confidence interval -0.022 to 0.029 quality-adjusted life-years); and the incremental cost-effectiveness ratio was £327,250 per quality-adjusted life-year gained. Ethnographic data showed that successfully embedded, holistic social prescribing providing supported linking to navigate social determinants of health was challenging to deliver, but could offer opportunities for improving health and well-being. However, the intervention was heterogeneous and was shaped in unanticipated ways by the delivery context. Pressures to generate referrals and meet targets detracted from face-to-face contact and capacity to address setbacks among those with complex health and social problems. Limitations: The limitations of the study include (1) a reduced sample size because of non-participation of seven general practices; (2) incompleteness and unreliability of some of the Quality and Outcomes Framework data; (3) unavailability of accurate data on intervention intensity and patient comorbidity; (4) reliance on an exploratory analysis with significant sensitivity analysis; and (5) limited perspectives from voluntary, community and social enterprise. Conclusions: This social prescribing model resulted in a small improvement in glycaemic control. Outcome effects varied across different groups and the experience of social prescribing differed depending on client circumstances. Future work: To examine how the NHS Primary Care Network social prescribing is being operationalised; its impact on health outcomes, service use and costs; and its tailoring to different contexts. Trial registration: This trial is registered as ISRCTN13880272. Funding: This project was funded by the National Institute for Health and Care Research (NIHR) Public Health Research programme, Community Groups and Health Promotion (grant no. 16/122/33) and will be published in full in Public Health Research; Vol. 11, No. 2. See the NIHR Journals Library website for further project information.
Social prescribing happens when health-care staff refer patients to a link worker. Link workers support and help patients to access community services to improve their health and well-being. Social prescribing is popular within the NHS, but there is little evidence that it works. We looked at a social prescribing model being delivered in a disadvantaged area in north-east England.
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COVID-19 , Diabetes Mellitus Tipo 2 , Humanos , Adulto , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Control de Enfermedades Transmisibles , Inglaterra/epidemiología , Personal de SaludRESUMEN
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. The synonymous and noncoding variants were predicted to be benign or likely benign by in silico analysis, with 5 and 3, respectively, occurring in both hypercalcemic and hypocalcemic individuals. Nine of the nonsynonymous variants (Thr54Met, Arg60His, Arg60Leu, Gly66Ser, Arg149His, Arg181Gln, Phe220Ser, Val340Met, Phe341Leu) identified in 13 probands have been reported to be FHH2- or ADH2-causing. Of the remaining nonsynonymous variants, Ala65Thr was predicted to be benign, and Met87Val, identified in a hypercalcemic individual, was predicted to be of uncertain significance. Three-dimensional homology modeling of the Val87 variant suggested it was likely benign, and expression of Val87 variant and wild-type Met87 Gα11 in CaSR-expressing HEK293 cells revealed no differences in intracellular calcium responses to alterations in extracellular calcium concentrations, consistent with Val87 being a benign polymorphism. Two noncoding region variants, a 40bp-5'UTR deletion and a 15bp-intronic deletion, identified only in hypercalcemic individuals, were associated with decreased luciferase expression in vitro but no alterations in GNA11 mRNA or Gα11 protein levels in cells from the patient and no abnormality in splicing of the GNA11 mRNA, respectively, confirming them to be benign polymorphisms. Thus, this study identified likely disease-causing GNA11 variants in <1% of probands with hypercalcemia or hypocalcemia and highlights the occurrence of GNA11 rare variants that are benign polymorphisms. © 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
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Hipercalcemia , Hipocalcemia , Humanos , Hipocalcemia/genética , Hipocalcemia/metabolismo , Hipercalcemia/genética , Calcio/metabolismo , Células HEK293 , Mutación/genética , Receptores Sensibles al Calcio/genética , Receptores Sensibles al Calcio/metabolismo , Subunidades alfa de la Proteína de Unión al GTP/genética , Subunidades alfa de la Proteína de Unión al GTP/metabolismoRESUMEN
Link 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. Based on 11 months of in-depth ethnographic research with link workers delivering social prescribing, we show how link workers' practices were shaped by the context of the intervention and how individual link workers navigated varied understandings of social prescribing. Following the work of Mol, we show how link workers drew differentially on the interacting logics of choice and care and trace a multiplicity in front-line link working practices within a single intervention. However, over time, it appeared that a logic of choice was becoming increasingly dominant, making it harder to deliver practices that aligned with a logic of care. We conclude that interpreting personalisation through a logic of choice could potentially undermine link working practices that privilege care whilst obscuring the need for wider investment in health care systems and the social determinants of health.
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Prescripciones , Servicio Social , Humanos , Programas Nacionales de Salud , InglaterraRESUMEN
Oculo-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. Here we have identified a multi-generational family with mild features of OAVS segregating a heterozygous frameshift in PAX1. The four base duplication is expected to result in nonsense-mediated decay, and therefore cause a null allele. While there was full penetrance of the variant, expressivity of facial and ear features were variable. Our findings indicate there can be monoallelic and biallelic disorders associated with PAX1, and further implicate the PSED network in OAVS.
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Síndrome de Goldenhar , Factores de Transcripción Paired Box , Inmunodeficiencia Combinada Grave , Síndrome de Goldenhar/genética , Homocigoto , Humanos , Mutación Missense , Factores de Transcripción Paired Box/genética , TretinoinaRESUMEN
The 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. Interviews were conducted between May and July 2020 with people (n = 44) living in North East England, who had one or more LTCs and were recruited via a social prescribing intervention. Data were analysed using a social constructivist thematic analysis. We present our analysis of the possibilities afforded to people to manage the impacts of lockdown on their health and wellbeing. We find that while some people deployed a range of capitals and/or etched out 'tactics' to make life 'habitable', others experienced 'zones of impossibility' requiring that they rely on contingent events or formal support. Our analysis highlights inequalities amongst people with LTCs, particularly regarding access to and deployment of important resources for health and wellbeing under COVID-19 social distancing restrictions, including outdoor space or greenspace, exercise and social connection. The study is novel in showing the mechanisms for coping with a significant period of disruption in the life-course whilst highlighting that although resilience was common in people with LTCs, this was sometimes at detrimental costs to themselves.
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COVID-19 , COVID-19/epidemiología , Control de Enfermedades Transmisibles , Inglaterra/epidemiología , Humanos , Pandemias , Distanciamiento FísicoRESUMEN
Phaeocystis 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. Using field samples collected from three time points of a bloom, we observed a distinct succession in the bacteria, archaea and phytoplankton community composition throughout the bloom. We also observed temporal variation in response to the bloom at the nucleotide level, which supports a previously underappreciated amount of intragroup variation in the niches taken up by microbes during HABs. We developed a preliminary model for the development and progression of the P. globosa bloom using the spatial-temporal dynamics of P. globosa and the bacteria, archaea, phytoplankton and environmental variables. We also identified microbes with putative interactions with P. globosa during the bloom by identifying microbes correlated with P. globosa in interaction networks, identifying particle-associated microbes and exploring the P. globosa colony microbiome using sequences from whole P. globosa colonies collected during the bloom. This study revealed novel insight into the development of P. globosa HABs and many testable hypotheses that will guide future research on the mechanisms of P. globosa HABs.
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Haptophyta , Microbiota , China , Floraciones de Algas Nocivas , FitoplanctonRESUMEN
Social 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. Our focus on the temporal rhythms of everyday practice allows us to trace a tension between the linearity and long horizon of the intervention and the oft contrasting timeframes of participants, sometimes leading to a mismatch that limited the intervention's impact. Further, we observed an interventional 'drift' from continuity towards unsupported signposting and 'out-of-the-blue' contacts which favour the temporality of the intervention. We demonstrate a need for intervention planning to be flexible to multiple, often conflicting, temporalities. We argue that health interventions must account for the temporal relations lived by the people they seek to support.
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Antropología Cultural , HumanosRESUMEN
Globally, 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.Glu386*). This allele encodes a truncated protein that is absent from the cell surface and is loss-of-function. The fibroblasts of the patients do not respond to type I IFNs (IFN-α2, IFN-ω, or IFN-ß). Remarkably, this IFNAR1 variant has a minor allele frequency >1% in Samoa and is also observed in the Cook, Society, Marquesas, and Austral islands, as well as Fiji, whereas it is extremely rare or absent in the other populations tested, including those of the Pacific region. Inherited IFNAR1 deficiency should be considered in individuals of Polynesian ancestry with severe viral illnesses.
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Receptor de Interferón alfa y beta , Virosis , Alelos , Niño , Homocigoto , Humanos , PolinesiaRESUMEN
BACKGROUND: 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. METHODS: Data were collected in a deprived urban area of North East England via remote interviews with clients (n = 44), link workers (n = 5) and service provider managerial staff (n = 8) from May-September 2020. Thematic data analysis was conducted. RESULTS: The research found that service providers quickly adapted to remote intervention delivery aiming to serve existing clients and other vulnerable groups. Service providers experienced improved access to some existing clients via telephone in the first months of remote delivery and in some cases were able to engage clients who had previously not attended appointments at GP surgeries. However, link workers also experienced challenges in building rapport with clients, engaging clients with the aims of the intervention and providing a service to digitally excluded people. Limited link worker capacity meant clients experienced variable contact with link workers with only some experiencing consistent support that was highly valued for helping to manage their conditions and mental wellbeing. Limited access to linked services also adversely affected clients. Clients living in less affluent circumstances and/or with worse health were more likely to experience negative impacts on their long-term condition. Some found their health and progress with social prescribing was 'on hold' or 'going backwards', which sometimes negatively affected their health. CONCLUSIONS: Social prescribing offered valued support to some during the pandemic, but remote support sometimes had limited impact for clients and findings highlight the vulnerability of social prescribing's success when linked services are disrupted. Findings also show the need for more to be done in the upscaling of social prescribing to provide support to digitally excluded populations.
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COVID-19 , COVID-19/epidemiología , Humanos , Pandemias , Investigación Cualitativa , SARS-CoV-2 , Servicio SocialRESUMEN
The 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. Qualitative data provide unique insights for those seeking to better understand the consequences for human life and wellbeing of the interacting social, physical and psychological factors that create syndemic risks in people's lives. Among this group of people at increased vulnerability to harm from COVID-19, we find that the pandemic public health response increased the work required for condition management. Mental distress was amplified by fear of infection and by the requirements of social isolation and distancing that removed participants' usual sources of support. Social conditions, such as poor housing, low incomes and the requirement to earn a living, further amplified the work of managing everyday life and risked worsening existing mental ill health. As evidenced by the experiences reported here, the era of pandemics will require a renewed focus on the connection between health and social justice if stubborn, and worsening health and social inequalities are to be addressed or, at the very least, not increased.
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Herbivore 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 (Rangifer tarandus) 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. We used data from a multiyear quasi-experimental study in northern Fennoscandia to analyze the effect of reindeer grazing on plant community diversity including its phylogenetic structure. Our study design used a permanent fence constructed in the 1960s and temporary fences constructed along the permanent fence to expose plant communities to three different grazing regimes: light (almost never grazed), pulse (grazed every other year), and press (chronic grazing for over 40 years). Similar to previous studies on low productivity ecosystems in this region, the species richness and evenness of plant communities with pulse and press grazing did not differ from communities with light grazing. Also consistent with previous studies in this region, we observed a transition from shrub-dominated communities with light grazing to graminoid-dominated communities with pulse and press grazing. Interestingly, communities with pulse, but not press, grazing were more phylogenetically dispersed than communities with light grazing. If grazing pulses can increase the phylogenetic diversity of plant communities, our result suggests changes in reindeer management allowing for pulses of grazing to increase phylogenetic diversity of plant communities.
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Accumulating 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. Analyzing 57 P. globosa strains and seven field samples revealed high P. globosa genetic diversity with at least seven distinct clades. This study not only demonstrated for the first time that the common molecular marker COX1 can be used for differentiating P. globosa strains with high-resolution, and for tracking dynamics of different P. globosa strains during bloom development, but also revealed that P. globosa had high genetic diversity in the field.
Asunto(s)
Haptophyta , Variación Genética , Haptophyta/genética , Floraciones de Algas Nocivas , TemperaturaRESUMEN
Although 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. The Bohai Sea is the largest inlet of the Yellow Sea located on the northeast coast of China and famous for shipping and marine aquacultures. HABs frequently occur in the Bohai Sea. In this study, we explored the composition, diversity, and distribution of HAB species using the metabarcoding approach. Through sequencing and the analyzing the 18S rDNA V4 region of 15 samples collected from spatially isolated sites in the Bohai Sea during an expedition in the summer of 2019, we identified 74 potential HAB species including 34 that had not been reported in the Bohai Sea in previous studies. This project provided a detailed analysis of phytoplankton composition, and molecular detection of HAB species in the Bohai Sea. In particular, these analyses revealed extremely high relative abundances of the ichthyotoxic phytoplankton species Vicicitus globosus (Dictyochophyceae) at multiple adjacent sampling sites in the Bohai Bay, which were close to the Yellow River Estuary during the expedition. The results revealed the occurrence of a potential HAB event that would be otherwise undetected using conventional methods, highlighting the sensitivity and power of metabarcoding analysis in detecting HABs and HAB species. This research suggested the value for routine and long-term monitoring of HAB species as an approach for monitoring HABs.