Publications by authors named "Nicola Roberts"

The value of 'data-enabled', digital healthcare is evolving rapidly, as demonstrated in the COVID-19 pandemic, and its successful implementation remains complex and challenging. Harmonisation (within/between healthcare systems) of infrastructure and implementation strategies has the potential to promote safe, equitable and accessible digital healthcare, but guidance for implementation is lacking. Using respiratory technologies as an example, our scoping review process will capture and review the published research between 12th December 2013 to 12th December 2023.

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Background: The story completion method provides a different way of doing qualitative research. We note the emergent popularity of this method in health-related research, while much remains to be negotiated in terms of best practices for such studies. This scoping review aims to provide a synthesis on how researchers have used the story completion method in health services research.

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Article Synopsis
  • New diagnostic criteria for NF2-related schwannomatosis were established in 2022, leading to an updated prevalence study in the UK, which focused on the rate of de novo NF2 cases.
  • A total of 1,084 living NF2 patients were identified, indicating a prevalence of 1 in 61,332, with a striking 72% of cases being de novo, many of which were mosaic.
  • The findings also revealed that nonsense variants were most common (24.8%), while missense variants had a higher familial association (56%), emphasizing the importance of patient databases for accurate genetic counseling.
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Background: Postpartum perineal pain is a frequent symptom (90%) with consequences on postnatal health regardless of whether the perineum remains intact. The impact of that pain on both short and long-term health has been studied and literature suggests midwives have a role to play in addressing this issue. However, the determinants of perineal pain when no lesions are identified are under researched and there is little understanding of women's views on this topic.

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Background: The occurrence of hyperostotic bilateral spheno-orbital meningiomas (BSOMs) is very rare. Patients present with bilateral symptoms and require bilateral treatment. This series describes 6 patients presenting to 2 UK neurosurgical units and includes a literature review.

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Objective: The aim of this study was to evaluate the current evidence regarding the quality of life (QoL) of children and young people with anterior chest wall deformity (ACWD).

Methods: Using a defined search strategy, a systematic review of the literature was performed using Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines.

Results: The search identified 305 articles, after refinement, the full text of 51 studies were reviewed and 10 included in the review.

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Background: The COVID-19 pandemic confirmed that respiratory nurses are critical healthcare providers. Limited knowledge is available about appropriate education to prepare nurses to deliver high-quality respiratory care. A survey was developed by the International Coalition for Respiratory Nursing (ICRN) group to identify the need for a respiratory nursing core curriculum.

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Self-management, as a strategy to support those living with chronic respiratory conditions such as asthma and COPD, has been widely advocated in guidelines and adopted in practice. However, there can be a disconnect between the goals of patients and healthcare professionals. Goals and barriers to self-management are often compounded by the complex social, emotional and medical needs of patients.

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Aims And Objectives: This study explores UK nurses' experiences of working in a respiratory clinical area during the COVID-19 pandemic over winter 2020.

Background: During the first wave of the pandemic, nurses working in respiratory clinical areas experienced significant levels of anxiety and depression. As the pandemic has progressed, levels of fatigue in nurses have not been assessed.

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Contemporarily, universities are perceived as neoliberal entities, self-absorbed, driven by corporate interests, markets and economic goals, rather than perceived as providing a public good, concerned for the wider world (del Cerro Santamaria in (1), 22-38, 2020). This perception of universities as individualised communities rather than collective communities (Rousseau in (5), 395-401, 2020) accentuates the responsibilisation of individuals who are viewed as responsible for solving their own problems (Martinez and Garcia in , 2000), including ensuring their own safety (Garland in (4), 445-471, 1996). Set against this social-political backdrop, this paper, using data from an online survey about students' perceptions of on-campus safety at a university in the north of England, shows how some students, particularly women students, view others as dangerous, rather than view them as vulnerable groups who are residing on the margins of an inequitable society.

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Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 missense variants, with variant classifications based on currently available evidence.

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Technology-enabled learning, using computers, smartphones, and tablets, to educate patients on their respiratory disease and management has grown over the last decade. This shift has been accelerated by the global COVID-19 pandemic and the need to socially distance for public health. Thirteen recently published papers examined experience, knowledge, skills and attitude acquisition, behaviour change, and impact on health outcomes of patient education using technology (websites and mobile device applications) for people with chronic respiratory disease.

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Aim/objective: The aim is to examine and map the respiratory skills taught in the pre-registration nursing curriculum (2010).

Background: Respiratory assessment and care are fundamental clinical skills enabling nurses to treat and care for people with acute and chronic respiratory diseases. The incidence of respiratory disease is rising, globally and most nurses will care for respiratory patients during their career.

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Background: Nurses have been at the forefront of the pandemic response, involved in extensive coordination of services, screening, vaccination and front-line work in respiratory, emergency and intensive care environments. The nature of this work is often intense and stress-provoking with an inevitable psychological impact on nurses and all healthcare workers. This study focused on nurses working in respiratory areas with the aim of identifying and characterising the self-reported issues that exacerbated or alleviated their concerns during the first wave of the COVID-19 pandemic.

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Article Synopsis
  • Regular physical activity significantly lowers the risk of community-acquired infectious diseases by 31% and reduces infectious disease mortality by 37%, according to a systematic review and meta-analysis.
  • The study analyzed data from various sources, examining how different levels of physical activity impact immune system parameters and responses to vaccines, focusing on adults while excluding elite athletes.
  • Results showed increased CD4 cell counts and salivary immunoglobulin IgA concentration in individuals participating in physical activity, highlighting the positive effects of exercise on the immune system.
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Objectives: Pulmonary rehabilitation (PR) involves a significant component of education, but little has been published on what educational content is covered or how it is delivered. This survey study set out to investigate how PR education is delivered in practice.

Methods: A survey was designed to investigate the current educational delivery and which topics respondents reported should be included in a PR programme.

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Purpose Of Review: The aim of this review is to discuss the recent literature relating to the involvement of informal carers and peer support in pulmonary rehabilitation.

Recent Findings: Informal carers and peer support have been identified by both patients and healthcare workers as a crucial component in the care of those with chronic respiratory disease at home. Pulmonary rehabilitation, a cornerstone in the management of patients with breathlessness, is limited in its clinical effectiveness by poor referral, uptake and completion rates.

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The discovery of drivers of cancer has traditionally focused on protein-coding genes. Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). For point mutations, we developed a statistically rigorous strategy for combining significance levels from multiple methods of driver discovery that overcomes the limitations of individual methods.

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A key mutational process in cancer is structural variation, in which rearrangements delete, amplify or reorder genomic segments that range in size from kilobases to whole chromosomes. Here we develop methods to group, classify and describe somatic structural variants, using data from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumour types. Sixteen signatures of structural variation emerged.

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About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 38 histological cancer subtypes within the framework of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. We identified 19,166 somatically acquired retrotransposition events, which affected 35% of samples and spanned a range of event types.

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The most common causes of chronic liver disease are excess alcohol intake, viral hepatitis and non-alcoholic fatty liver disease, with the clinical spectrum ranging in severity from hepatic inflammation to cirrhosis, liver failure or hepatocellular carcinoma (HCC). The genome of HCC exhibits diverse mutational signatures, resulting in recurrent mutations across more than 30 cancer genes. Stem cells from normal livers have a low mutational burden and limited diversity of signatures, which suggests that the complexity of HCC arises during the progression to chronic liver disease and subsequent malignant transformation.

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