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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. We offer implications for research and practice for further discussion by the scholarly community. METHODS: We used the JBI methodology for scoping reviews. Six databases were searched for published literature till March 1, 2023: Medline, Embase, CINAHL, PsycINFO, SAGE Journals Online databases, and SAGE Research Methods. We included primary studies of any study design using the story completion method in health services research. RESULTS: A total of 17 studies were included. Findings suggest that the story completion method is useful for research on sensitive topics, and affords the use of comparative study designs and large sample sizes which may be difficult with conventional qualitative research methods. More than 80% of included studies used story completion as the sole method. However, the data collected from this method were limited in terms of the inferences that can be drawn; and richness of participant responses may vary widely. Less than 30% of included studies reported piloting of the story stems. Most studies were conducted online and analyzed qualitatively, though the story stem design and sample size varied widely. CONCLUSION: The story completion method, with its attendant affordances for larger sample sizes, comparative study designs, and streamlined data collection is an innovative and useful stand-alone or adjunct qualitative method for health services research.
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Pesquisa sobre Serviços de Saúde , Pesquisa Qualitativa , Projetos de Pesquisa , Humanos , Pesquisa sobre Serviços de Saúde/estatística & dados numéricos , NarraçãoRESUMO
OBJECTIVES: New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de novo NF2 (a 50% frequency is widely quoted in genetic counselling). The distribution of variant types among de novo and familial NF2 cases was also assessed. METHODS: The UK National NF2 database identifies patients meeting updated NF2 criteria from a highly ascertained population cared for by England's specialised service. Diagnostic prevalence was assessed on 1 February 2023. Molecular analysis of blood and, where possible, tumour specimens for NF2, LZTR1 and SMARCB1 was performed. RESULTS: 1084 living NF2 patients were identified on prevalence day (equivalent to 1 in 61 332). The proportion with NF2 inherited from an affected parent was only 23% in England. If people without a confirmed molecular diagnosis or bilateral vestibular schwannoma are excluded, the frequency of de novo NF2 remains high (72%). Of the identified de novo cases, almost half were mosaic. The most common variant type was nonsense variants, accounting for 173/697 (24.8%) of people with an established variant, but only 18/235 (7.7%) with an inherited NF2 pathogenic variant (p<0.0001). Missense variants had the highest proportion of familial association (56%). The prevalence of LZTR1-related schwannomatosis and SMARCB1-related schwannomatosis was 1 in 527 000 and 1 in 1.1M, respectively, 8.4-18.4 times lower than NF2. CONCLUSIONS: This work confirms a much higher rate of de novo NF2 than previously reported and highlights the benefits of maintaining patient databases for accurate counselling.
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Neurilemoma , Neurofibromatoses , Neurofibromatose 2 , Neurofibromina 2 , Proteína SMARCB1 , Neoplasias Cutâneas , Humanos , Neurilemoma/genética , Neurilemoma/epidemiologia , Neurilemoma/patologia , Neurofibromatoses/genética , Neurofibromatoses/epidemiologia , Neurofibromatoses/patologia , Neurofibromatose 2/genética , Neurofibromatose 2/epidemiologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Masculino , Feminino , Proteína SMARCB1/genética , Neurofibromina 2/genética , Fatores de Transcrição/genética , Prevalência , Adulto , Mutação/genética , Pessoa de Meia-Idade , Predisposição Genética para Doença , AdolescenteRESUMO
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. AIM AND OBJECTIVES: The aim of the study was to gain an understanding of postpartum perineal pain when the perineum is considered to be intact. The objectives were â¢To gain an understanding of postpartum pain and its consequences on health and well-being â¢To explore women's views and understanding of perineal pain postpartum â¢To gain an understanding of the determinants of postpartum perineal pain when no anatomic lesion is diagnosed. METHODS: A Gadamerian hermeneutic approach was used to achieve a shared understanding of the issue. Participants were recruited from two maternity hospitals in the French area of Vaucluse. All women aged 18 to 45 years old, having given birth vaginally to a single live child and diagnosed with an intact perineum, were invited to participate in face-to-face interviews. Eleven participants were interviewed once, six of whom agreed to a second interview which took place over the telephone due to Covid lockdown. FINDINGS: The findings identified three major themes 1. Can't honestly call it pain, 2. Reassurance in normality, 3. Managing the unexpected. The use of the word pain to describe perineal sensations in postpartum was questioned by the participants, who used inner resources to deal with these sensations. Fostering self-confidence, having the possibility to explain the sensations and qualifying them as normal were some approaches women usedto manage their postpartum perineal sensations in a positive manner.
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Tocologia , Complicações do Trabalho de Parto , Criança , Gravidez , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Períneo , Período Pós-Parto , Dor Pélvica , EpisiotomiaRESUMO
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. To the best of the authors' knowledge, this is the largest series documented. OBSERVATIONS: This is a retrospective review of patients with BSOMs presenting between 2006 and 2023. Six females, whose mean age was 43 (range: 36-64) years, presented with features of visual disturbance. Bilateral sphen-oorbital meningiomas were identified. All patients underwent bilateral staged resections. The patients had an initial improvement in their symptoms. Extensive genetic testing was performed in 4 patients, with no variants in the NF2, LZTR1, SMARCB1, SMARCE1, and SMARCA4 genes or other variants detected. The mean follow-up was 100.3 (range: 64-186) months. Sixty-seven percent of patients had good long-term visual acuity. The progression rate was 75% and was particularly aggressive in 1 patient. Four patients required radiation therapy, and 2 needed further surgery. LESSONS: Hyperostotic BSOMs are extensive, challenging tumors causing significant disability. They can recur, with significant patient impact. Multidisciplinary management and indefinite long-term follow-up are essential. The biology of these tumors remains unclear. As molecular testing expands, the understanding of BSOM oncogenesis and potential therapeutic targets is likely to improve.
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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. A total of eight studies described QoL associated with the correction of ACWD and two studies reported on QoL without correction. The surgical correction of ACWD was reported in six studies and non-surgical correction in two studies. A total of three disease-specific and 24 generic QoL measures were used. The variation in QoL outcome measures, together with a lack of consistency in the time scales of data collection, did not allow for direct comparison between studies. However, the improvement in psychosocial QoL following correction of ACWD is clear. The impact of ACWD on physical QoL is less defined and the influence of age, gender, severity and type of deformity is uncertain. The literature identified primarily surrounds QoL outcomes in relation to surgical correction and is therefore not representative of all children and young people with ACWD. CONCLUSIONS: Correction of ACWD is associated with significant improvement in the psychosocial QoL of children and young people. Further work is required to standardise QoL data collection for all children with ACWD to achieve a greater understanding of the impact and guide future management.
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Qualidade de Vida , Parede Torácica , Humanos , Criança , Adolescente , Parede Torácica/cirurgia , Coleta de Dados , Avaliação de Resultados em Cuidados de SaúdeRESUMO
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 Review of European Studies, 12(1), 22-38, 2020). This perception of universities as individualised communities rather than collective communities (Rousseau in Social Currents, 7(5), 395-401, 2020) accentuates the responsibilisation of individuals who are viewed as responsible for solving their own problems (Martinez and Garcia in What is neoliberalism, 2000), including ensuring their own safety (Garland in The British Journal of Criminology, 36(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. The porous borders of the university campuses amplify some students' perceptions of dangerous others and students' suggestions for campus security to keep out such others arguably serve to aggravate rather than relieve their perceptions of unsafety. Yet the porous borders of the campuses should be seen as advantageous because an ecological university can connect its students to the wider world to help facilitate care for the other (Barnett in The ecological university, 2018). In doing so, this may enhance students' own sense of well-being and safety in the urban environment. This is a timely argument amidst a global pandemic, where the university restricts access to unauthorised others and, in doing so, facilitates the makings of an exclusive community.
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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. Method: A 39-item survey was distributed to 33 respiratory nursing experts in 27 countries. Questions asked about current roles, perception of need, expectations for a core curriculum project and respiratory content in nursing education in their countries. Results: 30 responses from 25 countries were analysed; participants predominantly worked in academia (53.3%, 16/30) and clinical practice (40%, 12/30). In total, 97% (29/30) confirmed a need for a core respiratory nursing curriculum. Post-registration nursing programmes at bachelor (83.3%, 25/30) and masters (63.3%, 19/30) levels include internal/medical nursing care; less than half identified separate respiratory nursing content. The core educational programme developed should include knowledge (70%, 21/30), skills (60%, 18/30), and competencies (50%, 15/30), with separate paediatric and adult content. Conclusion: Survey results confirm a wide variation in nursing education and respiratory nursing education across the world, with many countries lacking any formal educational programmes to prepare nurses capable of providing enhanced quality respiratory care. These findings support the need for a core respiratory curriculum. To advance this significant work the ICRN group plans to conduct a Delphi study to identify core curriculum requirements for respiratory nursing education at pre-registration and advanced educational levels to flexibly meet each country's specific educational requirements for recognition of respiratory nursing speciality practice.
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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. People living with chronic respiratory conditions also often have symptoms of anxiety and depression, which can impact on self-management. Self-management therefore requires patients and healthcare professionals to work together and it is essential to involve patients when designing, implementing and evaluating self-management interventions. Patient preferences are clearly important and goal setting needs an individual, flexible and responsive approach from healthcare professionals, which aligns to a more personalised approach to management of treatable traits and the burden of disease. To achieve these goals, healthcare professionals need education to support patients in self-management and behaviour change. This approach should lead to shared decision-making and partnership working that puts the patient right at the centre of their care.
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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. METHODS: A cross-sectional e-survey was distributed via professional respiratory societies and social media. The survey included Generalised Anxiety Disorder Assessment (GAD7), Patient Health Questionnaire (PHQ9, depression), a resilience scale (RS-14) and Chalder mental and physical fatigue tools. The STROBE checklist was followed as guidance to write the manuscript. RESULTS: Despite reporting anxiety and depression, few nurses reported having time off work with stress, most were maintaining training and felt prepared for COVID challenges in their current role. Nurses reported concerns over safety and patient feedback was both positive and negative. A quarter of respondents reported wanting to leave nursing. Nurses experiencing greater physical fatigue reported higher levels of anxiety and depression. CONCLUSIONS: Nurses working in respiratory clinical areas were closely involved in caring for COVID-19 patients. Nurses continued to experience similar levels of anxiety and depression to those found in the first wave and reported symptoms of fatigue (physical and mental). A significant proportion of respondents reported considering leaving nursing. Retention of nurses is vital to ensure the safe functioning of already overstretched health services. Nurses would benefit from regular mental health check-ups to ensure they are fit to practice and receive the support they need to work effectively. RELEVANCE TO CLINICAL PRACTICE: A high proportion of nurses working in respiratory clinical areas have been identified as experiencing fatigue in addition to continued levels of anxiety, depression over winter 2020. Interventions need to be implemented to help provide mental health support and improve workplace conditions to minimise PTSD and burnout.
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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. NF2 missense variants were collated from pathology-associated databases and existing literature. Association for Clinical Genomic Sciences Best Practice Guidelines (2020) were followed in the application of evidence for variant interpretation and classification. The majority of NF2 missense variants remain classified as variants of uncertain significance. However, NF2 missense variants identified in gnomAD occurred at a consistent rate across the gene, while variants compiled from pathology-associated databases displayed differing rates of variation by exon of NF2. The highest rate of NF2 disease-associated variants was observed in exon 7, while lower rates were observed toward the C-terminus of the NF2 protein, merlin. Further phenotypic information associated with variants, alongside variant-specific functional analysis, is necessary for more definitive variant interpretation. Our data identified differences in frequency of NF2 missense variants by exon between gnomAD population data and NF2 disease-associated variants, suggesting a potential genotype-phenotype correlation; further work is necessary to substantiate this.
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Genes da Neurofibromatose 2 , Neurofibromina 2 , Estudos de Associação Genética , Genômica , Humanos , Mutação de Sentido Incorreto , Neurofibromina 2/genéticaRESUMO
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. Technology-enabled patient education that includes relevant information, with activities that encourage the patient to interact with the digital platform, appears to lead to better patient experience and may increase learning and behaviour change with improved quality of life. Developing online relationships with healthcare providers, lower digital capabilities, and poor access to a computer/smartphone/tablet, appear to be barriers that need to be overcome for equity in access. Maintaining the principles of quality educational design, ensuring interactive experiences for patient involvement in the educational activities, patient co-design, healthcare professionals connecting with experts in the field of technology-enabled learning for development of education models, and ongoing research lead to the best patient outcomes in technology-enabled education for 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. The extent of pre-registration respiratory specific education delivered in UK NMC (Nursing and Midwifery Council) approved education institutions (AEIs) is currently unknown. The move to the 2018 revised NMC standards for pre-registration nursing offers AEIs the opportunity to review provision of respiratory education. This study describes respiratory education delivered to pre-registration nurses in UK AEIs prior to implementation of the new NMC standards. Curriculum re-design can be adapted for the global nursing community. DESIGN: This is a freedom of information survey; to gather, examine and map curriculum content. METHODS: A survey of UK AEIs was conducted to initially scope provision of respiratory education for pre-registration nursing programmes. AEIs were emailed a freedom of information (FOI) request and provided information about the curriculum between April-June 2019. RESULTS: Seventy-five UK AEIs providing pre-registration nursing programmes responded. Over half of AEIs dedicated over 4 h of teaching respiratory anatomy and physiology (60.8%), respiratory pathophysiology (75.3%) and long- term respiratory conditions (60.3%). Less than half (44.4%) spent over 4 h teaching respiratory health and prevention of respiratory disease. Just over a third spent over 4 h on respiratory pharmacology (33.8%), local and national respiratory guidelines (33.3%) and information on pulmonary rehabilitation and other interventions for the management of respiratory conditions (35.2%). In most AEIs, skills laboratories were used to teach respiratory skills. Student competence was not always assessed. Respiratory learning was reported to take place during practice placements, but this was variable. CONCLUSIONS: Variation exists in provision of respiratory education in pre-registration nursing programmes across the UK. Whilst some respiratory topics appear to be covered adequately, others have limited time on knowledge and skills teaching. New standards and curricula offer AEIs the opportunity to enhance this provision. Adaptations can be made and the curriculum transferred to the global nursing workforce. TWEETABLE ABSTRACT: Gaps have been identified in respiratory teaching pre-registration nurse education. Curriculum redesign to focus on respiratory care.
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Bacharelado em Enfermagem , Tocologia , Estudantes de Enfermagem , Competência Clínica , Currículo , Feminino , Humanos , GravidezRESUMO
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. METHODS: An online survey was developed consisting of 90 questions using a mixture of open-ended and closed questions. Participant demographic data were also collected (age, gender, ethnicity, number of years qualified, details of long-term health conditions, geographical location, nursing background/role and home life). The online survey was disseminated via social media and professional respiratory societies (British Thoracic Society, Primary Care Respiratory Society, Association of Respiratory Nurse Specialists) over a 3-week period in May 2020 and the survey closed on 1 June 2020. RESULTS: The study highlights the experiences of nurses caring for respiratory patients during the first wave of the pandemic in early 2020. Concerns were expressed over the working environment, the supply and availability of adequate protective personal equipment, the quality of care individuals were able to deliver, and the impact on mental health to nurses and their families. A high number provided free-text comments around their worries and concerns about the impact on their household; these included bringing the virus home, the effect on family members worrying about them, mental health and the impact of changing working patterns, and managing with children. Although both formal and informal support were available, there were inconsistencies in provision, highlighting the importance of nursing leadership and management in ensuring equity of access to services. CONCLUSIONS: Support for staff is essential both throughout the pandemic and afterwards, and it is important that preparation of individuals regarding building resilience is recognised. It is also clear that psychological support and services for nurses and the wider healthcare team need to be available and quickly convened in the event of similar major incidents, either global or local.
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COVID-19/terapia , Enfermeiras e Enfermeiros/psicologia , Estresse Ocupacional/epidemiologia , Resiliência Psicológica , Adolescente , Adulto , COVID-19/epidemiologia , COVID-19/psicologia , COVID-19/transmissão , Feminino , Humanos , Transmissão de Doença Infecciosa do Paciente para o Profissional/prevenção & controle , Liderança , Masculino , Pessoa de Meia-Idade , Enfermeiras e Enfermeiros/estatística & dados numéricos , Estresse Ocupacional/prevenção & controle , Estresse Ocupacional/psicologia , Pandemias/prevenção & controle , Equipamento de Proteção Individual , Sistemas de Apoio Psicossocial , Unidades de Cuidados Respiratórios/estatística & dados numéricos , Autorrelato/estatística & dados numéricos , Adulto JovemRESUMO
BACKGROUND: Regular physical activity is the prime modality for the prevention of numerous non-communicable diseases and has also been advocated for resilience against COVID-19 and other infectious diseases. However, there is currently no systematic and quantitative evidence synthesis of the association between physical activity and the strength of the immune system. OBJECTIVE: To examine the association between habitual physical activity and (1) the risk of community-acquired infectious disease, (2) laboratory-assessed immune parameters, and (3) immune response to vaccination. METHODS: We conducted a systemic review and meta-analysis according to PRISMA guidelines. We searched seven databases (MEDLINE, Embase, Cochrane CENTRAL, Web of Science, CINAHL, PsycINFO, and SportDiscus) up to April 2020 for randomised controlled trials and prospective observational studies were included if they compared groups of adults with different levels of physical activity and reported immune system cell count, the concentration of antibody, risk of clinically diagnosed infections, risk of hospitalisation and mortality due to infectious disease. Studies involving elite athletes were excluded. The quality of the selected studies was critically examined following the Cochrane guidelines using ROB2 and ROBINS_E. Data were pooled using an inverse variance random-effects model. RESULTS: Higher level of habitual physical activity is associated with a 31% risk reduction (hazard ratio 0.69, 95% CI 0.61-0.78, 6 studies, N = 557,487 individuals) of community-acquired infectious disease and 37% risk reduction (hazard ratio 0.64, 95% CI 0.59-0.70, 4 studies, N = 422,813 individuals) of infectious disease mortality. Physical activity interventions resulted in increased CD4 cell counts (32 cells/µL, 95% CI 7-56 cells/µL, 24 studies, N = 1112 individuals) and salivary immunoglobulin IgA concentration (standardised mean difference 0.756, 95% CI 0.146-1.365, 7 studies, N = 435 individuals) and decreased neutrophil counts (704 cells/µL, 95% CI 68-1340, 6 studies, N = 704 individuals) compared to controls. Antibody concentration after vaccination is higher with an adjunct physical activity programme (standardised mean difference 0.142, 95% CI 0.021-0.262, 6 studies, N = 497 individuals). CONCLUSION: Regular, moderate to vigorous physical activity is associated with reduced risk of community-acquired infectious diseases and infectious disease mortality, enhances the first line of defence of the immune system, and increases the potency of vaccination. PROTOCOL REGISTRATION: The original protocol was prospectively registered with PROSPERO (CRD42020178825).
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COVID-19 , Adulto , Exercício Físico , Humanos , Sistema Imunitário , Estudos Observacionais como Assunto , SARS-CoV-2 , VacinaçãoRESUMO
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. The survey was sent to 11 Scottish PR Action group regional leads. RESULTS: Nine completed the questionnaire (81.8%). Education was reported to be predominately group-based and face-to-face (n = 9, 100%) consisting of between 6 and 12 sessions. Most educational topics lasted 15 min or less, some topic areas were not consistently covered. The educational content was variable and not personalised to individual needs. Three health areas undertook informal literacy assessment at baseline assessment and when tailoring COPD plans. Often attendance at educational sessions was not needed to 'complete' PR. CONCLUSIONS: Content and delivery of educational topics were varied, and no consistent outcome measure to assess the effectiveness of education was used. PRACTICE IMPLICATIONS: Education needs to be delivered in a patient-centred way tailoring for literacy skills using a range of different teaching approaches and aids.
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Doença Pulmonar Obstrutiva Crônica , Humanos , Inquéritos e QuestionáriosRESUMO
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. Engagement of informal carers and support from peers may help maximize the utilization of pulmonary rehabilitation. SUMMARY: This review highlights the need for more good-quality randomized controlled trials in identifying suitable interventions that may increase uptake and completion of pulmonary rehabilitation programmes. Qualitative studies have highlighted the potential for informal carers and peer support to play a key role in the design of research programmes, and in the delivery of pulmonary rehabilitation. This needs to be addressed in future research.
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Cuidadores/organização & administração , Transtornos Respiratórios/reabilitação , Dispneia/reabilitação , Humanos , Cooperação do Paciente , Qualidade de Vida , Encaminhamento e Consulta/estatística & dados numéricos , Apoio SocialRESUMO
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. Long interspersed nuclear element (LINE-1; L1 hereafter) insertions emerged as the first most frequent type of somatic structural variation in esophageal adenocarcinoma, and the second most frequent in head-and-neck and colorectal cancers. Aberrant L1 integrations can delete megabase-scale regions of a chromosome, which sometimes leads to the removal of tumor-suppressor genes, and can induce complex translocations and large-scale duplications. Somatic retrotranspositions can also initiate breakage-fusion-bridge cycles, leading to high-level amplification of oncogenes. These observations illuminate a relevant role of L1 retrotransposition in remodeling the cancer genome, with potential implications for the development of human tumors.