Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice.

Significant inconsistencies in respiratory care provision for Duchenne muscular dystrophy (DMD) are reported across different specialist neuromuscular centres in the UK. The absence of robust clinical evidence and expert consensus is a barrier to the implementation of care recommendations in public healthcare systems as is the need to increase awareness of key aspects of care for those living with DMD. Here, we provide evidenced-based and/or consensus-based best practice for the respiratory care of children and adults living with DMD in the UK, both as part of routine care and in an emergency. METHODOLOGY: Initiated by an expert working group of UK-based respiratory physicians (including British Thoracic Society (BTS) representatives), neuromuscular clinicians, physiotherapist and patient representatives, draft guidelines were created based on published evidence, current practice and expert opinion. After wider consultation with UK respiratory teams and neuromuscular services, consensus was achieved on these best practice recommendations for respiratory care in DMD. RESULT: The resulting recommendations are presented in the form of a flow chart for assessment and monitoring, with additional guidance and a separate chart setting out key considerations for emergency management. The recommendations have been endorsed by the BTS. CONCLUSIONS: These guidelines provide practical, reasoned recommendations for all those managing day-to-day and acute respiratory care in children and adults with DMD. The hope is that this will support patients and healthcare professionals in accessing high standards of care across the UK.

Ensuring Indigenous co-leadership in health research: a Can-SOLVE CKD case example.

BACKGROUND: Indigenous people are insightful and informed about their own health and wellness, yet their visions, strengths and knowledge are rarely incorporated into health research. This can lead to subpar engagement or irrelevant research practices, which exacerbates the existing health inequities Indigenous people experience compared to the non-Indigenous population. Data consistently underscores the importance of Indigenous self-determination in research as a means to address health inequities. However, there are few formal methods to support this goal within the existing research context, which is dominated by Western perspectives. MAIN TEXT: Canadians Seeking Solutions and Innovations to Overcome Chronic Kidney Disease (Can-SOLVE CKD) is a patient-oriented research network in Canada that recognizes the need to create the space to facilitate Indigenous self-determination in research. Indigenous members of the network therefore created and evolved a unique group, called the Indigenous Peoples' Engagement and Research Council (IPERC). IPERC plays a critical role in informing Can-SOLVE CKD research priorities, as well as creating tools to support Indigenous-specific research and engagement. This approach ensures that Indigenous voices and knowledge are critical threads within the fabric of the network's operations and research projects. Here, we describe the methods taken to create a council such as IPERC, and provide examples of initiatives by the council that aim to increase Indigenous representation, participation and partnership in research. We share lessons learned on what factors contribute to the success of IPERC, which could be valuable for other organizations interested in creating Indigenous-led research councils. CONCLUSION: Indigenous self-determination in research is critical for addressing health inequities. Here, we present a unique model, led by a council of diverse Indigenous people, which could help reduce health equities and lead to a better era of research for everyone.

Children's Acute Cough-Specific Quality of Life: Revalidation and Development of a Short Form.

PURPOSE: Acute cough in children has a significant impact on the child and family. Relevant quality of life (QoL) instruments are essential for high-quality clinical research. This study aimed to (1) revalidate the 16-item Parent-proxy Children's Acute Cough-specific QoL questionnaire (PAC-QoL16) using a different dataset (i.e., different children), (2) confirm the minimally important difference (MID), and (3) develop and validate a short form. METHODS: Three datasets from two sources were utilized, comprising of 332 children with acute cough (< 2 weeks duration); the first dataset (n = 83, 54 boys; median age 2.04 years, IQR 1.08-4.06 years) was used for revalidation, the second dataset (n = 238, 141 boys; median age 2.17 years, IQR 1.21-4.21 years) was used to develop the short form, and the third dataset (n = 94, 62 boys; median age, 1.75 years, IQR 0.90-3.63 years) was used to confirm the short form. Psychometric properties were investigated. RESULTS: Six items were found to account for 96.4% of the variance in the PAC-QoL16. The PAC-QoL16 and short form (PAC-QoL6) scales correlated with cough scores (rs ≤ - 0.40, p < 0.001), were internally consistent (Cronbach α = 0.94 and 0.87, respectively) and demonstrated sensitivity to change over time. A MID of 0.71 to 1.11 is recommended. CONCLUSION: Both the PAC-QoL16 and newly developed short form (PAC-QoL6) are reliable and valid outcome measures that assess children's acute cough-specific QoL at a given time point, are easy to interpret and reflect changes over time. The new short form addresses the need for outcome measures to be as time effective as possible without loss of information.

Exploration of the expected and achieved competency levels of new graduate nurses.

AIM: To explore the expected and achieved competency levels of new graduate nurses. BACKGROUND: There are global concerns about a perceived disconnect between the educational preparation of new graduates and the expectations of employers about their work readiness. It is important to understand competency levels expected and achieved of new graduate nurses. METHOD(S): The study was conducted in three phases: the identification of competencies, development of a survey instrument and exploration of levels of competency from the perspectives of key stakeholders. RESULTS: New graduates were well prepared for demonstrating respect to patients, but needed to be closely supported when providing emergency care. Results highlighted that new graduates felt less competent than graduating students in those competencies related to legal and ethical practice. Importantly, expectations about new graduates' competency varied between educators and managers. CONCLUSION(S): The findings provide important information about new graduates' competency levels, revealing a mismatch in the perception of key stakeholders about competency levels. This has important implications for building new graduates readiness for practice and highlights the importance of collaboration between key stakeholders to address competency gaps. IMPLICATIONS FOR NURSING MANAGEMENT: Supportive opportunities should be provided to new graduate nurses to fill gaps in beginner competency.

Intra- and Inter-Rater Reliability of a Ballet-based Dance Technique Screening Instrument.

OBJECTIVES: To investigate intra- and inter-rater reliability of a ballet-based Dance Technique Screening Instrument used by physical therapists (PTs) and student PTs (SPTs) with prior dance medicine or dance experience. METHODS: Ten pre-professional dancers were video-recorded in the sagittal and frontal planes while performing four dance sequences: 1) second position grand plié; 2) développé à la seconde; 3) single-limb passé relevé balance; and 4) jumps in first position. Dance videos and electronic versions of the demographics and scoring forms were provided through a secure online survey to 28 PTs and SPTs who served as raters. Raters reviewed a training video prior to scoring the 10 dancers. Raters were asked to repeat their assessments 1-2 wks later. Intraclass correlations (ICC) were assessed for all-raters, PTs, and SPTs for total and sequence scores. RESULTS: Twenty-eight raters assessed the videos one time. Inter-rater reliability was ICC=0.98 (CI95=0.96-0.99) (all-raters), with PTs and SPTs displaying similar values (ICC=0.96 and 0.96, respectively). Eighteen raters (11 PTs, 7 SPTs) repeated the video analysis. Intra-rater reliability was ICC=0.78 (CI95=0.72-0.83) with PTs ICC=0.81 and SPTs ICC=0.70. CONCLUSIONS: Correlations were high for all-raters. SPTs were as reliable as PTs in inter-rater comparisons. PTs exhibited higher intra-rater reliability compared to SPTs. These results substantiate the reliability of a standardized testing instrument to conduct dance technique assessment. Validity of this instrument was demonstrated in a previous study which found dancers with better technique were less likely to sustain injury. The ability to identify technique deficits can guide preventative programs that may reduce injury risk. LEVEL OF EVIDENCE: Level III.

The Human Phenotype Ontology in 2017.

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.

Using a Mobile Application to Assess Knee Valgus in Healthy and Post-Anterior Cruciate Ligament Reconstruction Participants.

Context: Popularity of using handheld devices in clinical settings has increased, especially the use of motion analysis applications (MAAs). Video-based measurement tools have been found reliable in measuring knee valgus in subjects without anterior cruciate ligament (ACL) injury. However, there is a need for validation of using a MAA to measure knee valgus in an injured population, given that they may exhibit higher degrees of knee valgus. Objective: To examine the reliability and validity of using a MAA to measure knee valgus during functional activities used to assess return to sport after ACL reconstruction (ACLR). Design: Reliability and validity study. Setting: University laboratory. Participants: Twelve participants with ACLR and 20 healthy individuals. Interventions: Each subject performed single-leg drop landing, single-leg hop, and 90° cut with simultaneous 3-dimensional (3D) motion capture and video recording on an iPad. Main Outcome Measures: Peak knee valgus during the landing phase was measured using a MAA and 3D analysis. To obtain reliability, peak knee valgus was measured on 2 separate days. Reliability was determined using intraclass correlation coefficients and standard errors of measurement. Validity was assessed using Pearson correlation coefficients by comparing peak knee valgus between the MAA and 3D analysis. The t tests were used to compare knee valgus obtained between raters, within raters, and between the MAA and 3D analysis. Results: Our data revealed excellent intrarater and interrater reliability with low standard errors of measurement of using a MAA for both groups. Significant, moderate to large associations were found in comparing peak knee valgus between the MAA and 3D analysis. However, knee valgus was significantly different between the MAA and 3D analysis across all tasks in both groups. Conclusion: Although a MAA is reliable for measuring peak knee valgus in individuals with ACLR and healthy controls, the actual values obtained by a MAA should be viewed with caution.

Prospective large-scale field study generates predictive model identifying major contributors to colony losses.

Over the last decade, unusually high losses of colonies have been reported by beekeepers across the USA. Multiple factors such as Varroa destructor, bee viruses, Nosema ceranae, weather, beekeeping practices, nutrition, and pesticides have been shown to contribute to colony losses. Here we describe a large-scale controlled trial, in which different bee pathogens, bee population, and weather conditions across winter were monitored at three locations across the USA. In order to minimize influence of various known contributing factors and their interaction, the hives in the study were not treated with antibiotics or miticides. Additionally, the hives were kept at one location and were not exposed to potential stress factors associated with migration. Our results show that a linear association between load of viruses (DWV or IAPV) in Varroa and bees is present at high Varroa infestation levels (>3 mites per 100 bees). The collection of comprehensive data allowed us to draw a predictive model of colony losses and to show that Varroa destructor, along with bee viruses, mainly DWV replication, contributes to approximately 70% of colony losses. This correlation further supports the claim that insufficient control of the virus-vectoring Varroa mite would result in increased hive loss. The predictive model also indicates that a single factor may not be sufficient to trigger colony losses, whereas a combination of stressors appears to impact hive health.

Improved Virtual Planning for Bimaxillary Orthognathic Surgery.

Conventional model surgery planning for bimaxillary orthognathic surgery can be laborious, time-consuming and may contain potential errors; hence three-dimensional (3D) virtual orthognathic planning has been proven to be an efficient, reliable, and cost-effective alternative. In this report, the 3D planning is described for a patient presenting with a Class III incisor relationship on a Skeletal III base with pan facial asymmetry complicated by reverse overjet and anterior open bite. A combined scan data of direct cone beam computer tomography and indirect dental scan were used in the planning. Additionally, a new method of establishing optimum intercuspation by scanning dental casts in final occlusion and positioning it to the composite-scans model was shown. Furthermore, conventional model surgery planning was carried out following in-house protocol. Intermediate and final intermaxillary splints were produced following the conventional method and 3D printing. Three-dimensional planning showed great accuracy and treatment outcome and reduced laboratory time in comparison with the conventional method. Establishing the final dental occlusion on casts and integrating it in final 3D planning enabled us to achieve the best possible intercuspation.

An acute cough-specific quality-of-life questionnaire for children: Development and validation.

BACKGROUND: Patient-relevant outcome measures are essential for high-quality clinical research, and quality-of-life (QoL) tools are the current standard. Currently, there is no validated children's acute cough-specific QoL questionnaire. OBJECTIVE: The objective of this study was to develop and validate the Parent-proxy Children's Acute Cough-specific QoL Questionnaire (PAC-QoL). METHODS: Using focus groups, a 48-item PAC-QoL questionnaire was developed and later reduced to 16 items by using the clinical impact method. Parents of children with a current acute cough (<2 weeks) at enrollment completed 2 validated cough score measures, the preliminary 48-item PAC-QoL, and 3 other questionnaires (the State Trait Anxiety Inventory [STAI], the Short-Form 8-item 24-hour recall Health Survey [SF-8], and the Depression, Anxiety, and Stress 21-item Scale [DASS21]). All measures were repeated on days 3 and 14. RESULTS: The median age of the 155 children enrolled was 2.3 years (interquartile range, 1.3-4.6). Median cough duration at enrollment was 3 days (interquartile range, 2-5). The reduced 16-item scale had high internal consistency (Cronbach α = 0.95). Evidence for repeatability and criterion validity was shown by significant correlations between the domains and total PAC-QoL scores and the SF-8 (r = -0.36 and -0.51), STAI (r = -0.27 and -0.39), and DASS21 (r = -0.32 and -0.41) scales on days 0 and 3, respectively. The final PAC-QoL questionnaire was sensitive to change over time, with changes significantly relating to changes in cough score measures (P < .001). CONCLUSION: The 16-item PAC-QoL is a reliable and valid outcome measure that assesses QoL related to childhood acute cough at a given time point and reflects changes in acute cough-specific QoL over time.

Do you use social media? A study into new nursing and midwifery graduates' uptake of social media.

Social media use is expanding rapidly, so too is its use within hospitals and amongst healthcare professionals. This study describes the use of social media by Australian and New Zealand nursing and midwifery graduates of the Graduate e-Cohort study; there were 112 (93%) respondents from a 2014 sample of 121 nurses and midwives. Findings suggest that the professional peak body goal of using social media as a vehicle for professional education requires consideration of the social media platforms that are actually being used by new graduates. We recommend that work by the respective professions at both an undergraduate and graduate level needs to focus on the implications of social media use or policy and practice to ensure that everyone is aware of when and how to engage in social media platforms and what to do and how to behave when using social media.

Practice audit of the role of the Non-medical surgical assistant in Australia, an online survey.

The term Non-Medical Surgical Assistant (NMSA) encompasses all roles where healthcare clinicians without a medical degree provide clinical services during the perioperative cycle. The role of NMSA is gaining momentum within Australia. It is timely to ascertain who is preforming the role and quantify the practice setting and scope of practice to enable a nationally recognised platform for role evolution. For two months in 2015 a NMSA Practice Audit was available online. Sampling was initially of a convenience modality. A total of 83 clinicians responded. The majority of NMSAs were experienced RNs [>11yrs]; held post-graduate qualifications [80%], practiced predominantly in metropolitan areas [65%] and had been performing the role for 8 years or less. The specialty with the highest uptake of the NMSAs is orthopaedic surgery. This paper provides an overview of NMSAs practicing in Australia and provides cost effective evidence of the need for this service in Australian healthcare.

A nurse-led model of chronic disease management in general practice: Patients' perspectives.

BACKGROUND: Evidence suggests that current models of chronic disease management within general practice are not effective in meeting the needs of the community. OBJECTIVE: The objective of this article is to examine patients' perceptions of a nurse-led collaborative model of care trialled in three general practices in Australia. METHODS: This article reports on the second phase of a mixed-methods study in which semi-structured interviews with purposively selected patients were conducted to elicit information about their perceptions of nurse-led care. RESULTS: Three themes emerged from the data - time, ambiance and dimensions of the nurse role. DISCUSSION: The results suggest that general practice nurses had a positive impact on patients' ability to manage their chronic disease. This infers that there is scope for general practice nurses to expand their role in chronic disease management to assist patients to better self-manage their chronic diseases.

A multi-organisation aged care emergency service for acute care management of older residents in aged care facilities.

This case study describes a multi-organisation aged care emergency (ACE) service. The service was designed to enable point-of-care assessment and management for older people in residential aged care facilities (RACFs). Design of the ACE service involved consultation and engagement of multiple key stakeholders. The ACE service was implemented in a large geographical region of a single Medicare Local (ML) in New South Wales, Australia. The service was developed over several phases. A case control pilot evaluation of one emergency department (ED) and four RACFs revealed a 16% reduction in presentations to the ED as well as reductions in admission to the hospital following ED presentation. Following initial pilot work, the ACE service transitioned across another five EDs and 85 RACFs in the local health district. The service has now been implemented in a further 10 sites (six metropolitan and four rural EDs) across New South Wales. Ongoing evaluation of the implementation continues to show positive outcomes. The ACE service offers a model shown to reduce ED presentations and admissions from RACFs, and provide quality care with a focus on the needs of the older person.

Pain-related psychological cognitions and behaviours associated with sick leave due to neck pain: findings from the Nurses and Midwives e-Cohort Study.

BACKGROUND: Sick leave due to neck pain (NP-SL) is costly and negatively impacts the productivity of the nursing and midwifery workforce. Identification of modifiable risk indicators is necessary to inform preventive efforts. This study aimed to investigate the role of pain-related psychological features (pain catastrophizing, fear of movement, and pain coping) in NP-SL alongside other potential risk indicators. METHODS: A cross-sectional analysis of a large cohort study of Australian and New Zealand nurses and midwives, established between 1st April 2006 to 30th March 2008, was undertaken. Recruitment procedures adopted within each Nursing Council jurisdiction were governed by the individual regulatory authorities and their willingness to engage with the study. Invitations directed potential participants to a purpose-built internet-based survey, where study information was provided and consent requested. Once consent was obtained, a range of standardized tools combined into one comprehensive electronic questionnaire was elicited. Exposure variables assessed included pain characteristics and a broad range of psychological, psychosocial, occupational, general health and demographic factors. Two-way interactions between age and gender and candidate exposures were also assessed. Binary logistic regression was performed using manual backward stepwise elimination of non-significant terms. RESULTS: The cohort included 4,903 currently working nurses or midwives aged 18-65 years. Of these, 2,481 (50.6%) reported neck pain in the preceding 12 months. Our sample comprised of 1,854 working nurses and midwives with neck pain in the preceding year who supplied sick leave data. Of these, 343 (18.5%) reported taking sick leave in the preceding year due to their neck pain. The final most parsimonious multivariable model demonstrated neck pain severity (adjusted odds ratio, [aOR] = 1.59), passive pain coping (aOR = 1.08) and fear of movement (aOR = 1.06) increased the likelihood of NP-SL in the previous year. Interactions between demographic and general health factors exhibited both protective and risk relationships with NP-SL, and there was no association between pain catastrophizing and NP-SL. CONCLUSIONS: Findings demonstrate that sick leave due to neck pain was associated with pain severity, fear of movement and passive pain coping. In addition, there were complex interactions found between demographic and general health factors. These features represent potentially modifiable targets for preventive programs.

Predictors of health-related quality of life in Chinese caregivers of children with autism spectrum disorders: a cross-sectional study.

The purpose of this study was to identify the predictors of health-related quality of life (HRQOL) among caregivers of children with autism spectrum disorders (ASD) in China. Two hundred and seventy-three caregivers were surveyed using questionnaires on HRQOL, family functioning, coping style, social support, and caregiver burden. Besides socio-demographic characteristics of children with ASD and their caregivers, results demonstrate that family functioning, coping style, social support, caregiver burden are predictors of HRQOL in caregivers of children with ASD, and these predictors correlated with each other. These results indicate that comprehensive intervention, which focuses on improving caregivers' coping strategies, social support (especially from family members and friends) and family functioning, and on releasing caregiver burden, should be provided to caregivers of children with ASD.

Realized impact of COVID-19 related disruptions on the National Bowel Cancer Screening Program.

BACKGROUND: Colorectal cancer is the second most common cause of cancer mortality in Australia (1). The National Bowel Cancer Screening Program (NBCSP) aims to reduce mortality through early detection with a biennial faecal occult blood test for Australians aged 50-74 years (2). Modelling predicted COVID-19 would reduce participation and delay colonoscopies despite the NBCSP continuing during the pandemic (3). This study analyses the realized impact of COVID-19 related disruptions on the NBCSP and the effect on mortality. METHODS: NBCSP participation, time to colonoscopy and annualized mortality were compared before and during COVID-19. The effect on mortality was determined using a validated microsimulation model (4, 5). RESULTS: From 1 January 2018 to 31 December 2019, 2 497 317 people participated in the NBCSP and 168 390 received a colonoscopy, compared to 2 490 265 and 162 573 from 1 January 2020 to 31 December 2021. Relative participation decreased 6 % and the proportion of colonoscopies performed within the recommended 120 days increased 14.5%. A disproportionally greater impact was observed outside major cities and in lower socioeconomic areas. An estimated 98-111 additional colorectal cancer deaths resulted from 3 % fewer colonoscopies performed during the pandemic. CONCLUSION: This study presents the most comprehensive analysis of the realized impact of COVID-19 on the NBCSP. Catch-up screening would be best targeted at Australians from rural and lower socioeconomic areas where participation remains low. Streamlined referral pathways and additional colonoscopy provisioning is required as less than two thirds of screen positive patients receive a colonoscopy within the recommended 120 days.

Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy.

We investigated the comorbidities, associated factors, and the relationship between anthropometric measures and respiratory function and functional abilities in adults with Duchenne muscular dystrophy (DMD). This was a single-centre cross-sectional study in genetically diagnosed adults with DMD (>16 years old). Univariate and multivariate analyses identified factors associated with dysphagia, constipation, Body Mass Index (BMI), and weight. Regression analysis explored associations between BMI, weight, and respiratory/motor abilities. We included 112 individuals (23.4 ± 5.2 years old), glucocorticoid-treated 66.1 %. The comorbidities frequency was 61.6 % scoliosis (61.0 % of them had spinal surgery), 36.6 % dysphagia, 36.6 % constipation, and 27.8 % urinary conditions. The use of glucocorticoids delayed the time to spinal surgery. The univariate analysis revealed associations between dysphagia and constipation with age, lack of glucocorticoid treatment, and lower respiratory and motor function. In the multivariate analysis, impaired cough ability remained as the factor consistently linked to both conditions. Constipation associated with lower BMI and weight. BMI and weight positively correlated with respiratory parameters, but they did not associate with functional abilities. Glucocorticoids reduce the frequency of comorbidities in adults with DMD. The ability to cough can help identifying dysphagia and constipation. Lower BMI and weight in individuals with DMD with compromised respiratory function may suggest a higher calories requirement.

Maternal attitudes to newborn screening for fragile X syndrome.

Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability the mean age of diagnosis in Australia is 5.5 years. Newborn screening for FXS can provide an early diagnosis, preventing the "diagnostic odyssey", allowing access to early interventions, and providing reproductive information for parents. Parents of affected children support newborn screening, but few clinical studies have evaluated community attitudes. A pilot study in 2009-2010 was performed in a tertiary hospital to explore feasibility and maternal attitudes. FXS testing of male and female newborns was offered to mothers in addition to routine newborn screening. Mothers were provided with information about FXS, inheritance pattern, carrier status, and associated adult-onset disorders. One thousand nine hundred seventy-one of 2,094 mothers (94%) consented to testing of 2,000 newborns. 86% completed the attitudinal survey and 10% provided written comments. Almost all parents (99%) elected to be informed of both premutation and full mutation status and there was little concern about identification of carrier status or associated adult-onset disorders. Most mothers (96%) were comfortable being approached in the postnatal period and supported testing because no extra blood test was required. Mothers considered an early diagnosis beneficial to help prepare for a child with additional needs (93%) and for reproductive planning (64%). Some were anxious about the potential test results (10%) and others felt their feelings towards their newborn may change if diagnosed with FXS (16%). High participation rates and maternal attitudes indicate a high level of maternal acceptance and voluntary support for newborn screening for FXS.