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BACKGROUND: FRMD5 variants were recently identified in patients with developmental delay, ataxia, and eye movement abnormalities. OBJECTIVES: We describe 2 patients presenting with childhood-onset ataxia, nystagmus, and seizures carrying pathogenic de novo FRMD5 variants. Weighted gene co-expression network analysis (WGCNA) was performed to gain insights into the function of FRMD5 in the brain. METHODS: Trio-based whole-exome sequencing was performed in both patients, and CoExp web tool was used to conduct WGCNA. RESULTS: Both patients presented with developmental delay, childhood-onset ataxia, nystagmus, and seizures. Previously unreported findings were diffuse choreoathetosis and dystonia of the hands (patient 1) and areas of abnormal magnetic resonance imaging signal in the white matter (patient 2). WGCNA showed that FRMD5 belongs to gene networks involved in neurodevelopment and oligodendrocyte function. CONCLUSIONS: We expanded the phenotype of FRMD5-related disease and shed light on its role in brain function and development. We recommend including FRMD5 in the genetic workup of childhood-onset ataxia and nystagmus. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Mutación Missense , Nistagmo Patológico , Convulsiones , Niño , Preescolar , Femenino , Humanos , Masculino , Edad de Inicio , Ataxia/genética , Ataxia/fisiopatología , Proteínas del Citoesqueleto/genética , Secuenciación del Exoma , Nistagmo Patológico/genética , Convulsiones/genéticaRESUMEN
This scoping review aimed to identify and summarise evidence on the comfort and functional performance of police officer personal protective equipment (PPE). The Arksey and O'Malley (2005) five-stage framework for scoping reviews was followed. PubMed, CINAHL, Scopus, and Web of Science were searched, and 35 articles were included in the review. The findings show that increased police PPE mass increases heart rate, metabolic energy expenditure, and perceived exertion in response to exercise. Unisex armour designs cause increased discomfort for females with larger bra sizes. PPE reduces joint-specific range of motion, with the design and location impairing movement more than mass. Jumping and sprinting performance is decreased with heavy PPE but unaffected by lighter protection, while agility is compromised with most forms of protection. Future research is needed on the fit and function of PPE for specialist police units, such as mounted police, along with further investigations on how fit can affect functional performance.
This paper identifies and reviews existing evidence on the comfort and functional performance of police officer personal protective equipment (PPE). This is significant because it summarises and categorises key concepts that underpin research in this area, whilst highlighting gaps in the current knowledge and areas for future research.
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Skin tears, defined as traumatic wounds caused by mechanical forces, can be debilitating for individuals, causing pain and reduced mobility. Although skin tears can develop throughout the lifespan, older age can make the skin increasingly susceptible to this type of injury. Studies have found wide variation in the incidence and prevalence of skin tears, in part because of suboptimal recognition and reporting practices among healthcare professionals. Effective prevention of skin tears requires a standardised approach to risk assessment, prevention, recognition and classification, such as that offered by the International Skin Tear Advisory Panel (ISTAP) best practice recommendations. This article examines the literature on the incidence, prevalence, prevention and recognition of skin tears, and outlines some of the ISTAP best practice recommendations on risk assessment, prevention and recognition. The authors also consider the need for patient and healthcare professional education to optimise the prevention of skin tears.
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Laceraciones , Humanos , Piel/lesiones , Medición de Riesgo , Personal de SaludRESUMEN
Experiencing bereavement as a child or young person (CYP) can have long-lasting effects. The societal and environmental burdens of the SARS-CoV-2 pandemic exacerbated the experience of loss and grief for many CYP, who were unable to access their usual the support networks. However, it is still unclear what is currently known and not known about the experiences of CYP bereaved during the SARS-CoV-2 pandemic. This review used the framework of Arksey and O'Malley and included five stages: (1) identifying the research question; (2) identifying relevant studies; (3) study selection; (4) charting the data; (5) collating, summarizing, and reporting the results. The methodological quality of the included studies was also assessed using the Critical Appraisal Skills Programme tool. The PRISMA framework was used for reporting the results. The electronic databases Medline, PsychINFO, CINAHL, and PubMed were searched for relevant articles. A total of three papers meeting the inclusion criteria were included in this review and two main themes identified: (1) support (which included sub-themes; social isolation and the impact on support; support from family and friends; wider support networks); (2) Emotional impact of bereavement during a pandemic. Access to support networks is crucial for CYP to understand and process their emotions relating to their bereavement experience. The pandemic meant that many usual support networks such as family and friends were inaccessible to CYP, who struggled to deal with their experience of grief during this time. Schools are a valuable support mechanism and can help CYP understand their emotions through open discussions about their bereavement. The limited empirical evidence currently available in this area of research demonstrates an important need to further understanding of the long-term impacts of dealing with pandemic-related loss in childhood.
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Aflicción , COVID-19 , Humanos , COVID-19/psicología , COVID-19/epidemiología , Niño , Adolescente , Pandemias , SARS-CoV-2 , Apoyo SocialRESUMEN
Dystonia is common, debilitating, often medically refractory, and difficult to diagnose. The gold standard for both clinical and mouse model dystonia evaluation is subjective assessment, ideally by expert consensus. However, this subjectivity makes translational quantification of clinically-relevant dystonia metrics across species nearly impossible. Many mouse models of genetic dystonias display abnormal striatal cholinergic interneuron excitation, but few display subjectively dystonic features. Therefore, whether striatal cholinergic interneuron pathology causes dystonia remains unknown. To address these critical limitations, we first demonstrate that objectively quantifiable leg adduction variability correlates with leg dystonia severity in people. We then show that chemogenetic excitation of striatal cholinergic interneurons in mice causes comparable leg adduction variability in mice. This clinically-relevant dystonic behavior in mice does not occur with acute excitation, but rather develops after 14 days of ongoing striatal cholinergic interneuron excitation. This requirement for prolonged excitation recapitulates the clinically observed phenomena of a delay between an inciting brain injury and subsequent dystonia manifestation and demonstrates a causative link between chronic striatal cholinergic interneuron excitation and clinically-relevant dystonic behavior in mice. Therefore, these results support targeting striatal ChIs for dystonia drug development and suggests early treatment in the window following injury but prior to dystonia onset. One Sentence Summary: Chronic excitation of dorsal striatal cholinergic interneuron causes clinically-relevant dystonic phenotypes in mice.
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OBJECTIVE: This systematic review assesses the effects of care bundles on the incidence of surgical site infections (SSIs). DATA SOURCES: The search was conducted between February and May 2021, using PubMed, CINAHL, SCOPUS, Cochrane, and EMBASE databases. STUDY SELECTION: Studies were included if they used systematic review methodology, were in English, used a quantitative design, and explored the use of care bundles for SSI prevention. A total of 35 studies met the inclusion criteria, and 26 provided data conducive to meta-analysis. DATA EXTRACTION: Data were extracted using a predesigned extraction tool, and analysis was undertaken using RevMan (Cochrane, London, UK). Quality appraisal was undertaken using evidence-based librarianship. DATA SYNTHESIS: The mean sample size was 7,982 (median, 840) participants. There was a statistically significant difference in SSI incidence in favor of using a care bundle (SSI incidence 4%, 703/17,549 in the care bundle group vs 7%, 1,157/17,162 in the usual care group). The odds ratio was 0.55 (95% confidence interval, 0.41-0.73; P < .00001), suggesting that there is a 45% reduction in the odds of SSI development for the care bundle group. The mean validity score for all studies was 84% (SD, 0.04%). CONCLUSIONS: The results indicate that implementing care bundles reduced SSI incidence. However, because there was clinically important variation in the composition of and compliance with care bundles, additional research with standardized care bundles is needed to confirm this finding.
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Paquetes de Atención al Paciente , Infección de la Herida Quirúrgica , Humanos , Incidencia , Paquetes de Atención al Paciente/efectos adversos , Infección de la Herida Quirúrgica/epidemiología , Infección de la Herida Quirúrgica/etiología , Infección de la Herida Quirúrgica/prevención & controlRESUMEN
OBJECTIVE: This study assesses anonymous patient-level data on the use of sub-epidermal moisture (SEM) assessment technology as a tool in the prevention of pressure ulceration in at-risk hospital patients. METHOD: The relationship between technology-generated prompts for clinical action (patient turning, application of pressure redistributing equipment, heel protection or cream) and consequent clinical action was evaluated using data cross-tabulations (using data aggregated over multiple anatomical sites); in a multilevel model with patients clustered within wards, clustered in turn within hospitals, and controlling for additional patient- and institution-level factors; and using receiver operating characteristic (ROC) analyses of anatomy-specific data. The ability of the SEM assessment technology to detect deep and early-stage pressure ulcers/injuries on specific anatomical areas of a patient's body on admission, earlier than visual and tactile skin tissue assessments (STA), was assessed. RESULTS: A total of 15,574 patient assessments ('cases') were reported on 1995 patients. Most incidences of nurse action were in response to a prompt from SEM assessments (4944/5494; 90.0%). An SEM delta (Δ)≥0.6 resulted in nurse action in 4944/13,071 cases (37.8%). The multilevel model revealed strong evidence that SEM Δ prompts were significantly associated with nurse action (p<0.001; adjusted odds ratio: 1.99). CONCLUSION: In this study, SEM assessment technology effectively prompted nurse action moreso than skin reddening diagnosed via trained clinician judgement and STAs. While baseline responses of nurses' actions remained low, with or without SEM Δ prompts, findings verified the 'clinical utility' of SEM assessment technology as an objective prompt for early clinical action over and above existing mechanisms.
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Úlcera por Presión , Epidermis/fisiología , Hospitales , Humanos , Incidencia , Úlcera por Presión/diagnóstico , Úlcera por Presión/prevención & control , PielRESUMEN
BACKGROUND: The long term impacts of experiencing a 'long lie' following a fall in the older person are poorly understood. This systematic review explored the impact of a long lie fall on physical and clinical outcomes in older people requiring an ambulance. METHODS: PRISMA guidelines were followed. RESULTS: 70 studies were identified. Nine studies were suitable for full review. Four studies meeting the inclusion criteria were included. The Critical Appraisal Skill Programme (CASP) assessed the quality of all included studies. Three studies reported on people aged 65 years and older. One study reported on people aged over 90 years. Personal alarm use was examined in two studies. One study explored patient characteristics of people confirmed to have fallen by paramedics at the scene. One study examined re-contact and characteristics of fallers referred to a falls prevention service. DISCUSSION: Cognitive impairment and long lie were a caveat for falls and repeated falls. Personal alarm use was infrequent, suggesting a need for supporting the older patient in appropriate alarm use and exploration of newer technologies to alleviate their need. Future research should focus on interventions for wearable, smart and e-technology for automatic fall detection and qualitative exploration of the lived experience.
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Técnicos Medios en Salud , Ambulancias , Anciano , Humanos , Examen Físico , Derivación y ConsultaRESUMEN
OBJECTIVE: To assess the effectiveness of sub-epidermal moisture (SEM) assessment technology as an adjunct to visual assessment to reduce pressure ulcer (PU) incidence alongside standard PU care pathways. METHOD: Data were obtained from wards located within 28 institutions in the UK, Canada, Belgium, Spain and Ireland. At each ward, the proportion of patients scanned who were observed to have one or more PUs of Category 2 or above during a pre-Pressure Ulcer Reduction Programme (PURP) implementation period starting between November 2017 and July 2018 was recorded. The proportion of patients scanned who were observed to have one or more PUs of Category 2 or above during a post-PURP implementation period starting between November 2018 and July 2019 was also recorded. A meta-analysis was conducted on the data using wards as the unit of analysis, to facilitate overall estimate of the PURP. A sensitivity study was also conducted to assess the sensitivity of results to data from specific institutions. RESULTS: A synthesised estimate of the overall relative risk (RR) was calculated to be 0.38 (95% confidence interval 0.26 to 0.56). Hence the risk of PU in the post-PURP cohort was about one-third that of the corresponding risk in the pre-PURP cohort. The sensitivity analysis revealed no evidence that any individual ward exerted excessive influence on the findings. CONCLUSION: The analysis has revealed strong evidence that implementation of the PURP was associated with reduction in incidence of Category 2 or above PUs across a wide range of clinical settings.
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Úlcera por Presión , Epidermis , Hospitales , Humanos , Incidencia , Úlcera por Presión/diagnóstico , Úlcera por Presión/epidemiología , Úlcera por Presión/prevención & control , ÚlceraRESUMEN
OBJECTIVE: To assess the incidence, risk, and associated factors that contribute to an acquired surgical site infection (SSI) after emergency cesarean section (CS). METHODS: This retrospective case-control study was conducted in an acute district general hospital in England with 206 patients (101 SSI patients and 105 non-SSI patients) who had an emergency CS in 2017. Grade of surgeon, smoking status, preoperative vaginal swab status (positive or negative), diabetes status, age, body mass index, membrane rupture to delivery interval, and length of surgery were recorded. Risk factors were identified using simple and multiple logistic regression. RESULTS: Body mass index was significantly associated with SSI (odds ratio, 1.17; 95% confidence interval, 1.11 to 1.24; P < .001). Further, substantive nonsignificant associations were recorded between SSI and patient age and vaginal swab status. CONCLUSIONS: Body mass index was the only significant risk factor for the development of an SSI after emergency CS, possibly because of the impact of excessive adipose tissue on the immune system and reduced effectiveness of antibiotics. Diabetes status, patient age, and preoperative vaginal swab status were not significantly associated with SSI. Improved guidelines and strategies for managing at-risk patients would enable clinicians to reduce the risk of SSI development. The importance of wound management including frequent wound cleaning, appropriate dressings, dressing changes, and education is highlighted. Future research on larger samples should be conducted to validate these findings.
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Cesárea/efectos adversos , Infección de la Herida Quirúrgica/etiología , Adulto , Índice de Masa Corporal , Estudios de Casos y Controles , Cesárea/estadística & datos numéricos , Servicios Médicos de Urgencia/métodos , Servicios Médicos de Urgencia/estadística & datos numéricos , Inglaterra , Femenino , Humanos , Incidencia , Estudios Retrospectivos , Factores de Riesgo , Infección de la Herida Quirúrgica/epidemiologíaRESUMEN
BACKGROUND: Surgical site infection (SSI) is a common postoperative concern. PURPOSE: To provide an in-depth understanding of the lived experience and quality of life (QoL) of individuals with SSI. METHODS: A systematic search for published studies that explored the impact of SSI on QoL among adult patients (older than 18 years) who had undergone any type of surgery was performed in June 2020. The search included but was not limited to MEDLINE, the Cumulative Index to Nursing and Allied Health Literature, and the Cochrane databases using the terms "surgical site infection" OR "hospital-acquired infection" OR "nosocomial infection" OR "wound site infection" OR "surgical wound site infection" AND "Quality of Life" OR "Life quality" OR "Health-Related Quality of Life" OR "Life Style" OR "QOL" OR "HRQoL" OR "Short-form questionnaire 36" OR "Questionnaire SF-36" OR "SF-36." All quantitative and qualitative study designs were included; no language or date of publication restrictions were imposed. The Critical Appraisal Skills Program Qualitative Checklist was used to assess the methodological quality of the included studies. Study author, date, setting, sample size, population, and design and type of surgery as well as QoL instrument scores were extracted. A narrative thematic synthesis, which comprised the physical, psychological, social, economic, and spiritual effects as well as the health care worker-patient relationship, was undertaken for qualitative studies. Outcome measures were collected and assessed using a range of established health QoL instruments and reported in terms of QoL for quantitative studies. In addition, the type of QoL instrument employed within the studies was elucidated for comparing the scores of the instruments. RESULTS: A total of 696 publications were found; 690 were eliminated, leaving 4 quantitative and 2 qualitative studies conducted between 2002 and 2018 that met the inclusion criteria. The total number of participants in the assessed studies was 785. The mean sample size for the included studies was 131 participants (SD = 192.5; median, 95). Thematic synthesis showed 6 overarching themes: physical, psychological, social, spiritual, and economic effects of SSI as well as the health care worker-patient relationship. Short Form-36 was used to assess QoL in 3 of the 4 quantitative studies; these studies showed that there were decrements in scores of Short Form-36. CONCLUSION: Although this systematic review included heterogeneous groups of patients who underwent different surgical procedures and completed different QoL assessment tools, patients with SSI experienced low QoL, with limitations in physical, social, and psychological functioning. The health care worker-patient relationship was predominantly perceived negatively. Further prospective research is warranted.
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Calidad de Vida , Infección de la Herida Quirúrgica , Adulto , Personal de Salud , Humanos , Investigación Cualitativa , Infección de la Herida Quirúrgica/epidemiología , Encuestas y CuestionariosRESUMEN
OBJECTIVE: Episodes of inpatient care-related pressure ulcers (PU) lead to deleterious effects on patient quality of life, and additional costs associated with wound dressings, staff visits and hospitalisation. Accurate prediction of future incidence may be helpful in defining strategies for benchmarking and resource management. Observations of category 2 or above PUs during episodes of care at an NHS Foundation Trust were recorded monthly from 2010 to 2020. Trust-specific interventions designed to reduce PU incidence, such as procurement of specialised staff and equipment, were also recorded. This study aimed to investigate the historical pattern of PU incidence in the Trust to assess intervention effectiveness in reducing PU incidence, and to use historical data to derive estimates of future incidence. METHOD: Time-series analysis was conducted on monthly PU incidence data to quantify underlying trends, seasonality and effect of interventions, and to derive a suitable model to predict future incidence levels. RESULTS: Mean monthly PU incidence gradually reduced from 20.3 during 2012 to 5.08 during 2019; with a negative linear trend in the presence of concurrent seasonal effects. There was limited evidence that implementation of specific interventions was associated with raised rates of reduction; however, incidence reductions during intervention periods continued from lower baselines. Best estimate predictions revealed that incidence is likely to stay at current levels or below for the foreseeable future. CONCLUSION: Past data can be used to model future episodes of inpatient care PU occurrence. Interventions may be effective in reducing PU incidence rates.
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Úlcera por Presión/epidemiología , Cuidados de la Piel , Cicatrización de Heridas , Vendajes , Humanos , Incidencia , Úlcera por Presión/prevención & control , Calidad de VidaRESUMEN
Movement disorders presenting in childhood include tics, dystonia, chorea, tremor, stereotypy, myoclonus, and parkinsonism, each of which can be part of various clinical syndromes with distinct etiologies. Some of these conditions are benign and require only reassurance; others are bothersome and require treatment, or may be clues that herald underlying pathology. Answers lie in the inherent characteristics of the movements themselves, together with the clinical context provided in the history obtained by the examiner. The aim of this review is to present an overview of the categories of involuntary movements, along with examples of common acquired and genetic causes, and an approach to history-taking, examination, and treatment.
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Corea , Distonía , Trastornos del Movimiento , Tics , Corea/diagnóstico , Corea/etiología , Corea/terapia , Humanos , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/etiología , Trastornos del Movimiento/terapia , Tics/diagnóstico , Tics/etiología , Tics/terapia , Temblor/diagnóstico , Temblor/etiología , Temblor/terapiaRESUMEN
OBJECTIVE: The aim of this systematic review was to examine the associations and relationship between commonly cited risk factors and the pathology of pressure ulcer (PU) development. METHOD: Using systematic review methodology, original research studies, prospective design and human studies written in English were included. The search was conducted in March 2018, using Ovid, Ovid EMBASE and CINAHL databases. Data were extracted using a pre-designed extraction tool and all included studies were quality appraised using the evidence-based librarianship critical appraisal. RESULTS: A total of 382 records were identified, of which five met the inclusion criteria. The studies were conducted between 1994 and 2017. Most studies were conducted in hospital and geriatric wards. The mean sample size was 96±145.7 participants. Ischaemia, recovery of blood flow and pathological impact of pressure and shear was mainly found as the cited risk factor and PU aetiology. CONCLUSION: This review systematically analysed five papers exploring the relationship between risk factors for PU development and aetiology. It identified many risk factors and underlying pathological mechanisms that interact in the development of PU including ischaemia, stress, recovery of blood flow, tissue hypoxia and the pathological impact of pressure and shear. There are several pathways in which these pathological mechanisms contribute to PU development and identifying these could establish potential ways of preventing or treating the development of PU for patients.
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Úlcera por Presión/prevención & control , Humanos , Úlcera por Presión/etiología , Factores de RiesgoRESUMEN
BACKGROUND: Wound assessment and treatment are essential aspects of nursing care. Dressing-associated complications can delay wound healing, causing unnecessary patient distress. Despite evidence suggesting that dressings should be changed infrequently, there still remains a tendency for healthcare professionals to remove dressings regularly, increasing the risk of complications and the cost of wound care. OBJECTIVE: To understand the experiences and current practices of tissue viability nurses (TVNs) involved in wound care and dressing wear time in the acute and community settings. METHODS: This quality improvement project used a mixed-methods design. A retrospective audit was undertaken to establish nurse rationale for the renewal of foam dressings on patients with acute/chronic wounds. Semistructured qualitative interviews were conducted with registered TVNs (n = 12) working in acute and community care settings and focused on their experiences with all dressing types. MAIN RESULTS: The analysis identified several key themes, including Training and Education (including the subthemes of TVN Experience and TVN Training), Knowledge and Information, Lack of Confidence (including the subthemes Reasons for Dressing Change and Ritualistic Practice), and Dressing Choice. CONCLUSIONS: Fundamental changes in staff attitudes and beliefs about dressing wear time are essential to optimizing dressing performance and increasing patient quality of care. Flexible community services that are reflective of the needs of the service are central to changing practice and increasing dressing wear time in these settings.
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Competencia Clínica , Personal de Enfermería en Hospital/organización & administración , Pautas de la Práctica en Enfermería/estadística & datos numéricos , Cuidados de la Piel/enfermería , Heridas y Lesiones/enfermería , Adulto , Femenino , Humanos , Masculino , Evaluación en Enfermería , Investigación en Educación de Enfermería , Garantía de la Calidad de Atención de Salud/organización & administración , Estudios Retrospectivos , Adulto JovenRESUMEN
Self-harm is a major challenge to public health. Emergency department (ED) nurses treat significant proportions of patients with self-harm injuries, and positive therapeutic patient-nurse interactions are imperative to the physical and psychological outcome of this vulnerable patient group. Research, both nationally and internationally, suggests that treating those with self-harm injuries is emotionally challenging, and ambivalence, powerlessness, and ineffectiveness are commonly manifested in negative attitudes towards these patients. Following the PRISMA guidelines, this systematic review with meta-analyses examined the attitudes of ED nurses towards patients who self-harm, based on currently available evidence. The following databases were searched: CINAHL complete; Medline complete; PsycARTICLES; PsycINFO; The Allied and Complementary Medicine Database; Health Source: Nursing/Academic Edition; PsycEXTRA; and Psychology and Behavioural Sciences Collection. Clinical trials registries for ongoing and unpublished studies, and scanned reference lists of relevant reports to identify additional studies, were also searched. Five studies were included in the meta-analysis. The Self-Harm Antipathy Scale (SHAS) was used as an outcome in two studies appropriate for meta-analysis. The Attitudes Towards Deliberate Self-Harm Questionnaire (ADSHQ) scale was used as an outcome in three studies appropriate for meta-analysis. Results demonstrated limited empathy and negativity towards patients who self-harm, indicating a requirement for education and supervision of ED staff, where the SHAS or the ADSHQ can be used to monitor attitude change. Self-harm educational content for ED staff should include areas of knowledge building including explanations and causes of self-harm; range, forms, and functions of self-harm; staff responses to self-harm; assessment, management, and interventions; professional practice issues.
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Actitud del Personal de Salud , Enfermería de Urgencia , Conducta Autodestructiva/enfermería , Servicio de Urgencia en Hospital , Humanos , Relaciones Enfermero-Paciente , Encuestas y CuestionariosRESUMEN
BACKGROUND: Effective communication between healthcare providers and patients represents an important caveat in healthcare, both nationally and internationally. Providing information to patients about their care and condition can be challenging, particularly in demanding, time-pressured environments such as the Emergency Department (ED). Understanding the process of communication and information between patients and staff in the ED is essential to ensuring patients are satisfied with their treatment and care. AIM: This study aimed to develop a holistic understanding of the informational and communicational requirements of patients and staff in the ED. METHODS: Action Research involving patient qualitative interviews and a staff focus group were used. RESULTS: Fifteen patient and family interviews identified four main themes associated with information and communication in the ED. Six ED staff participated in the focus group, which identified three emergent themes echoing some findings from the patient qualitative interviews. DISCUSSION: Meaningful and informative interactions between patients and healthcare providers are an imperative and pragmatic component of a positive patient experience. Establishing communicative procedures that are practical, functional and reflective of the service can improve communications between patients and staff and have implications for practice on a local, national and international level.