116 research outputs found
Effectiveness of chronic care models: opportunities for improving healthcare practice and health outcomes: a systematic review
The increasing prevalence of chronic disease and even multiple chronic diseases faced by both developed and developing countries is of considerable concern. Many of the interventions to address this within primary healthcare settings are based on a chronic care model first developed by MacColl Institute for Healthcare Innovation at Group Health Cooperative.This systematic literature review aimed to identify and synthesise international evidence on the effectiveness of elements that have been included in a chronic care model for improving healthcare practices and health outcomes within primary healthcare settings. The review broadens the work of other similar reviews by focusing on effectiveness of healthcare practice as well as health outcomes associated with implementing a chronic care model. In addition, relevant case series and case studies were also included.Of the 77 papers which met the inclusion criteria, all but two reported improvements to healthcare practice or health outcomes for people living with chronic disease. While the most commonly used elements of a chronic care model were self-management support and delivery system design, there were considerable variations between studies regarding what combination of elements were included as well as the way in which chronic care model elements were implemented. This meant that it was impossible to clearly identify any optimal combination of chronic care model elements that led to the reported improvements.While the main argument for excluding papers reporting case studies and case series in systematic literature reviews is that they are not of sufficient quality or generalizability, we found that they provided a more detailed account of how various chronic care models were developed and implemented. In particular, these papers suggested that several factors including supporting reflective healthcare practice, sending clear messages about the importance of chronic disease care and ensuring that leaders support the implementation and sustainability of interventions may have been just as important as a chronic care model's elements in contributing to the improvements in healthcare practice or health outcomes for people living with chronic disease.Carol Davy, Jonathan Bleasel, Hueiming Liu, Maria Tchan, Sharon Ponniah and Alex Brow
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group
There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different disorders
Factors influencing the implementation of chronic care models: a systematic literature review
Background: The increasing prevalence of chronic disease faced by both developed and developing countries is of considerable concern to a number of international organisations. Many of the interventions to address this concern within primary healthcare settings are based on the chronic care model (CCM). The implementation of complex interventions such as CCMs requires careful consideration and planning. Success depends on a number of factors at the healthcare provider, team, organisation and system levels. Methods: The aim of this systematic review was to systematically examine the scientific literature in order to understand the facilitators and barriers to implementing CCMs within a primary healthcare setting. This review focused on both quantitative and qualitative studies which included patients with chronic disease (cardiovascular disease, chronic kidney disease, chronic respiratory disease, type 2 diabetes mellitus, depression and HIV/AIDS) receiving care in primary healthcare settings, as well as primary healthcare providers such as doctors, nurses and administrators. Papers were limited to those published in English between 1998 and 2013. Results: The search returned 3492 articles. The majority of these studies were subsequently excluded based on their title or abstract because they clearly did not meet the inclusion criteria for this review. A total of 226 full text articles were obtained and a further 188 were excluded as they did not meet the criteria. Thirty eight published peer-reviewed articles were ultimately included in this review. Five primary themes emerged. In addition to ensuring appropriate resources to support implementation and sustainability, the acceptability of the intervention for both patients and healthcare providers contributed to the success of the intervention. There was also a need to prepare healthcare providers for the implementation of a CCM, and to support patients as the way in which they receive care changes. Conclusion: This systematic review demonstrated the importance of considering human factors including the influence that different stakeholders have on the success or otherwise of the implementing a CCM.Carol Davy, Jonathan Bleasel, Hueiming Liu, Maria Tchan, Sharon Ponniah and Alex Brow
Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease
INTRODUCTION: Detecting early cardiac involvement in Fabry disease (FD) is important because therapy may alter disease progression. Cardiovascular magnetic resonance (CMR) can detect T1 lowering, representing myocardial sphingolipid storage. In many diseases, early mechanical dysfunction may be detected by abnormal global longitudinal strain (GLS). We explored the relationship of early mechanical dysfunction and sphingolipid deposition in FD.
METHODS: An observational study of 221 FD and 77 healthy volunteers (HVs) who underwent CMR (LV volumes, mass, native T1, GLS, late gadolinium enhancement), ECG and blood biomarkers, as part of the prospective multicentre Fabry400 study.
RESULTS: All FD had normal LV ejection fraction (EF 73%±8%). Mean indexed LV mass (LVMi) was 89±39 g/m2 in FD and 55.6±10 g/m2 in HV. 102 (46%) FD participants had left ventricular hypertrophy (LVH). There was a negative correlation between GLS and native T1 in FD patients (r=−0.515, p<0.001). In FD patients without LVH (early disease), as native T1 reduced there was impairment in GLS (r=−0.285, p<0.002). In the total FD cohort, ECG abnormalities were associated with a significant impairment in GLS compared with those without ECG abnormalities (abnormal: −16.7±3.5 vs normal: −20.2±2.4, p<0.001).
CONCLUSIONS: GLS in FD correlates with an increase in LVMi, storage and the presence of ECG abnormalities. In LVH-negative FD (early disease), impairment in GLS is associated with a reduction in native T1, suggesting that mechanical dysfunction occurs before evidence of sphingolipid deposition (low T1).
TRIAL REGISTRATION NUMBER: NCT03199001; Results
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of programmable targeted long-read sequencing with Oxford Nanopore's ReadUntil function for parallel genotyping of all known neuropathogenic STRs in a single assay. Our approach enables accurate, haplotype-resolved assembly and DNA methylation profiling of STR sites, from a list of predetermined candidates. This correctly diagnoses all individuals in a small cohort (n = 37) including patients with various neurogenetic diseases (n = 25). Targeted long-read sequencing solves large and complex STR expansions that confound established molecular tests and short-read sequencing and identifies noncanonical STR motif conformations and internal sequence interruptions. We observe a diversity of STR alleles of known and unknown pathogenicity, suggesting that long-read sequencing will redefine the genetic landscape of repeat disorders. Last, we show how the inclusion of pharmacogenomic genes as secondary ReadUntil targets can further inform patient care
КАТАЛИТИЧЕСКАЯ КОНВЕРСИЯ БИОЭТАНОЛА В АРОМАТИЧЕСКИЕ УГЛЕВОДОРОДЫ В ПРИСУТСТВИИ ПЕРОКСИДА ВОДОРОДА
The initiating action of hydrogen peroxide on the catalytical transformation of ethanol into aromatic hydrocarbons was studied. It was shown that the total yield of aromatic hydrocarbons increases with increasing time of contact and temperature, when rapid coking of the surface of the zeolite-containing catalyst HZSM-5 occurs in the absence of hydrogen. The modifying action of hydrogen peroxide by the catalyst surface hydroxylation and initiation of the rate-limiting step of ethylene oligomerization with the participation of peroxide radicals HO2 • was hypothesized.Исследовано инициирующее влияние пероксида водорода на процесс каталитического пре-вращения этанола в ароматические углеводороды. Показано, что суммарный выход арома-тических углеводородов повышается с увеличением времени контакта и температуры в тех условиях, когда в отсутствие пероксида водорода происходит быстрое коксование поверх-ности цеолитсодержащего катализатора HZSM-5. Высказана гипотеза о модифицирующем действии пероксида водорода путем гидроксилирования поверхности катализатора и инициировании лимитирующей стадии олигомеризации этилена с участием пероксидных радикалов HO2•
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
Introduction: Dystonia is a clinically and genetically heterogeneous disorder and a genetic cause is often difficult to elucidate. This is the first study to use whole genome sequencing (WGS) to investigate dystonia in a large sample of affected individuals. Methods: WGS was performed on 111 probands with heterogenous dystonia phenotypes. We performed analysis for coding and non-coding variants, copy number variants (CNVs), and structural variants (SVs). We assessed for an association between dystonia and 10 known dystonia risk variants. Results: A genetic diagnosis was obtained for 11.7% (13/111) of individuals. We found that a genetic diagnosis was more likely in those with an earlier age at onset, younger age at testing, and a combined dystonia phenotype. We identified pathogenic/likely-pathogenic variants in ADCY5 (n = 1), ATM (n = 1), GNAL (n = 2), GLB1 (n = 1), KMT2B (n = 2), PRKN (n = 2), PRRT2 (n = 1), SGCE (n = 2), and THAP1 (n = 1). CNVs were detected in 3 individuals. We found an association between the known risk variant ARSG rs11655081 and dystonia (p = 0.003). Conclusion: A genetic diagnosis was found in 11.7% of individuals with dystonia. The diagnostic yield was higher in those with an earlier age of onset, younger age at testing, and a combined dystonia phenotype. WGS may be particularly relevant for dystonia given that it allows for the detection of CNVs, which accounted for 23% of the genetically diagnosed cases. © 2019 The Author
Global patterns in endemicity and vulnerability of soil fungi
Fungi are highly diverse organisms, which provide multiple ecosystem services. However, compared with charismatic animals and plants, the distribution patterns and conservation needs of fungi have been little explored. Here, we examined endemicity patterns, global change vulnerability and conservation priority areas for functional groups of soil fungi based on six global surveys using a high-resolution, long-read metabarcoding approach. We found that the endemicity of all fungi and most functional groups peaks in tropical habitats, including Amazonia, Yucatan, West-Central Africa, Sri Lanka, and New Caledonia, with a negligible island effect compared with plants and animals. We also found that fungi are predominantly vulnerable to drought, heat and land-cover change, particularly in dry tropical regions with high human population density. Fungal conservation areas of highest priority include herbaceous wetlands, tropical forests, and woodlands. We stress that more attention should be focused on the conservation of fungi, especially root symbiotic arbuscular mycorrhizal and ectomycorrhizal fungi in tropical regions as well as unicellular early-diverging groups and macrofungi in general. Given the low overlap between the endemicity of fungi and macroorganisms, but high conservation needs in both groups, detailed analyses on distribution and conservation requirements are warranted for other microorganisms and soil organisms
Global patterns in endemicity and vulnerability of soil fungi
Fungi are highly diverse organisms, which provide multiple ecosystem services. However, compared with charismatic animals and plants, the distribution patterns and conservation needs of fungi have been little explored. Here, we examined endemicity patterns, global change vulnerability and conservation priority areas for functional groups of soil fungi based on six global surveys using a high-resolution, long-read metabarcoding approach. We found that the endemicity of all fungi and most functional groups peaks in tropical habitats, including Amazonia, Yucatan, West-Central Africa, Sri Lanka, and New Caledonia, with a negligible island effect compared with plants and animals. We also found that fungi are predominantly vulnerable to drought, heat and land-cover change, particularly in dry tropical regions with high human population density. Fungal conservation areas of highest priority include herbaceous wetlands, tropical forests, and woodlands. We stress that more attention should be focused on the conservation of fungi, especially root symbiotic arbuscular mycorrhizal and ectomycorrhizal fungi in tropical regions as well as unicellular early-diverging groups and macrofungi in general. Given the low overlap between the endemicity of fungi and macroorganisms, but high conservation needs in both groups, detailed analyses on distribution and conservation requirements are warranted for other microorganisms and soil organisms
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