Search

Introduction: The National Health Service for England Long Term Plan identifies respiratory disease as one of its priority workstreams. To assist with earlier and more accurate diagnosis of lung disease they recommend improvement in delivery of quality-assured spirometry. However, there is a likelihood that patients will present with abnormal gas exchange when spirometry results are normal and therefore there will be a proportion of patients whose time to diagnosis is still protracted. We wished to determine the incidence rate of this occurring within our Trust., Methods: A retrospective review of all patients attending the lung function laboratory for their first pulmonary function assessment from June 2006 to December 2020 was undertaken. Forced expiratory volume in 1 s/forced vital capacity (FEV 1 /FVC) >-1.64 standardised residual (SR) was used to confirm no obstructive lung function abnormality and FVC >-1.64 SR to confirm no suggestion of a restrictive lung function abnormality. Lung gas transfer for carbon monoxide (TLCO) and transfer coefficient of the lung for carbon monoxide (KCO) <-1.64 SR confirmed the presence of a gas exchange abnormality. Spirometry and gas transfer reference values generated by the Global Lung Initiative were used to determine normality., Results: Of 12 835 eligible first visits with normal FEV 1 /FVC and FVC, 4856 (37.8%) were identified as having an abnormally low TLCO and 3302 (25.7%) presenting with an abnormally low KCO. Of 3494 with FEV 1 /FVC SR <-1.64, 3316 also had a ratio of <0.70, meaning 178 (5%) of patients in this cohort would have been misclassified as having obstructive lung disease using the 0.70 cut-off recommended by the Global Initiative for Chronic Obstructive Lung Disease for diagnosing obstructive lung disease., Discussion: In conclusion, to assist with ensuring more accurate and timely diagnosis of lung disease and enhance patients' diagnostic pathway, we recommend the performance of lung gas transfer measurements alongside spirometry in all healthcare settings. To assess and monitor gas transfer at the earliest opportunity we recommend this is implemented into new models being developed within community hubs. This will increase the identification of lung function abnormalities and provide patients with a definitive diagnosis earlier., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas type III patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries. A total of 615 patients were ventilated, either invasively (178) or non-invasively (437), 439 received tube feeding and 455 had had scoliosis surgery. Some of these interventions were not available to patients in all countries, but differences were also noted among high-income countries with comparable wealth and health care systems. This study provides the basis for further research, such as quality of life in ventilated SMA patients, and will inform clinical trial planning.

Background: Deliberative public engagement has been proposed for policy development, where issues are complex and there are diverse public perspectives and low awareness of competing issues. Scholars suggest a range of potential outcomes for citizens and government agencies from involvement in such processes. Few studies have examined outcomes from the perspective of citizen participants in deliberative processes., Aims: To examine participant perceptions of their involvement in and outcomes of a deliberative engagement exercise., Method: A case study using semistructured interviews was conducted with participants following a deliberative forum on biobanking., Results: From their involvement in the deliberative exercise, participants described transformations in their knowledge and beliefs about the policy issues. They reported being more informed to the extent of having confidence to educate others and effectively contribute to public policy development. They had developed greater trust in government policymakers who they believed would take reasonable account of their recommendations., Conclusion: We conclude that the participants were satisfied with the outcomes of the deliberative public engagement process and viewed it as an effective means of citizen involvement in public policy development. Particularly for citizens who participate in deliberative processes, such processes may promote active citizenship, empower citizens to undertake representative and educative roles, and improve relations between citizens and government agencies. Actions taken by policymakers subsequent to the deliberative exercise, whereby the majority of citizen recommendations were incorporated in the policy developed, may have contributed to participants holding sustained levels of trust in the commissioning government agency.

Background: Public deliberation is recommended for obtaining citizen input to policy development when policies involve contested ethical dimensions, diverse perspectives on how to trade-off competing public interests and low public awareness of these perspectives. Several norms have been proposed for the design of deliberative methods. Evidence is scarce regarding whether such norms are achievable in practice., Purpose: This paper refers to principles of deliberative democracy theory to describe a deliberative public forum on biobanking. Practical challenges and contextual facilitators of achieving deliberative ideals are discussed, along with factors that influenced use of the forum output in policy development., Method: The forum ran for 4 days over two weekends in Perth, Western Australia. Key methodological features were socio-demographic stratification to randomly recruit a mini-public of citizens for discursive representation, provision of information inclusive of diverse perspectives and framed for difference, provision of a fair way for reasoning and collective decision making and adoption of processes to achieve publicity, accountability and independence from undue institutional influence., Results: Most design principles were achieved in practice, with the fundamental exception of representativeness. Factors influencing these outcomes, and the use of deliberated outputs to develop policy, included institutional characteristics, the design involvement of deliberative experts and quality of the outputs when compared to other consultation methods., Conclusions: Public deliberations can achieve design ideals and influence (ethics-based) public health policy. The representation of 'hard to reach' citizens and their views needs further consideration, particularly as this relates to the procedural legitimacy of ethical analyses and the just inclusion of deliberative citizen advice within the broader policy-making process., (© 2011 John Wiley & Sons Ltd.)

Background: Calls have been made for governments to adopt a cohesive approach to rare diseases through the development of national plans. At present, Australia does not have a national plan for rare diseases. To progress such a plan an inaugural Australian Rare Diseases Symposium was held in Western Australia in April 2011. This paper describes the key issues identified by symposium attendees for the development of a national plan, compares these to the content of EUROPLAN and national plans elsewhere and discusses how the outcomes might be integrated for national planning., Methods: The symposium was comprised of a series of plenary sessions followed by workshops. The topics covered were; 1) Development of national plans for rare diseases; 2) Patient empowerment; 3) Patient care, support and management; 4) Research and translation; 5) Networks, partnerships and collaboration. All stakeholders within the rare diseases community were invited to participate, including: people affected by rare diseases such as patients, carers, and families; clinicians and allied health practitioners; social and disability services; researchers; patient support groups; industry (e.g. pharmaceutical, biotechnology and medical device companies); regulators and policy-makers., Results: All of these stakeholder groups were represented at the symposium. Workshop participants indicated the need for a national plan, a national peak body, a standard definition of 'rare diseases', education campaigns, lobbying of government, research infrastructure, streamlined whole-of-lifetime service provision, case co-ordination, early diagnosis, support for health professionals and dedicated funding., Conclusions: These findings are consistent with frameworks and initiatives being undertaken internationally (such as EUROPLAN), and with national plans in other countries. This implies that the development of an Australian national plan could plausibly draw on frameworks for plan development that have been proposed for use in other jurisdictions. The translation of the symposium outcomes to government policy (i.e. a national plan) requires the consideration of several factors such as the under-representation of some stakeholder groups (e.g. clinicians) and the current lack of evidence required to translate some of the symposium outcomes to policy options. The acquisition of evidence provides a necessary first step in a comprehensive planning approach.

Background: Deliberative public engagement is recommended for policy development in contested ethical areas. Scholars provide little guidance on how deliberative outputs can be translated to policy. This paper describes the processes we undertook to design a deliberative public forum for citizens to develop recommendations on biobanking that were adopted as health policy., Method: The 4-day forum, held in 2008 in Perth, Western Australia, was designed in collaboration with academic experts. Deliberant recommendations were recorded in a formal report presented to policy-makers. Deliberations were audio-taped and transcribed. Translation involved transcript analyses, comparison of recommendations to other stakeholder views and post-forum consultations., Results: Sixteen citizens made recommendations on ethical, legal and social issues related to biobanking. Most recommendations were translated into biobanking guidelines, with which Western Australia government health agencies must comply. The value of deliberative public participation in policy-making was most evident when trade-offs in competing interests, hopes and concerns were required. Translation issues included the impact of a small number of participants with limited socio-demographic diversity on procedural and policy legitimacy., Conclusions: Assessing the sufficiency of diversity in citizen representation was central to the deliberation-to-translation process. Institutional context facilitated the uptake of deliberation and translation processes. The use of these processes influenced policy substance and credibility among stakeholders and contributed to the state government directive that policy compliance be mandatory. We urge others to publish deliberation-to-translation processes so that best-practices may be identified., (Copyright © 2011 S. Karger AG, Basel.)

Aims: To examine the costs, outcomes and cost savings of three models of prenatal cystic fibrosis (CF) carrier screening compared to no screening from a public health sector perspective., Methods: A decision tree was generated to estimate costs and outcomes for each screening model for a hypothetical cohort of 38 000 pregnancies. Sensitivity analysis assessed the impact of model parameter variation., Results: Under baseline assumptions, the initial annual cost to provide a prenatal CF carrier-screening programme is Au$5.32 million, Au$3.35 million and $2.93 million for one-step, two-step simultaneous and two-step sequential screening respectively. Annual costs are significantly lower for an established programme. No screening model provides a net saving over a lifetime horizon; however, the results were sensitive to variation in lifetime cost of care, screening test costs and number of pregnancies per carrier couple., Conclusions: Under some scenarios, prenatal CF carrier screening is cost saving to the health system; however, this is not conclusive and depends on several factors. Cost remains a potential barrier due to the substantial level of funding required in the short term. Feasibility and psychosocial, ethical and legal implications of screening need to be considered. Additionally, consultation is required with the Australian community on the acceptability and/or desire for prenatal CF carrier screening.

We have mapped the neuronal uptake of 3H-glycine in the spinal cords of large larval sea lampreys: Petromyzon marinus. Spinal cords were incubated in 10(-6) M 3H-glycine for 15 minutes. They were rinsed in lamprey solution, fixed in phosphate-buffered 2% glutaraldehyde, and washed in phosphate buffer. They were then sectioned with a cryostat at 16-m thickness or dehydrated, embedded in Epon, and sectioned at 1-4 micron. Sections were coated with a photographic emulsion and maintained at 4 degrees C for 1-7 days. By sectioning horizontally, it was possible to obtain complete serial reconstructions of up to 1.5-mm lengths of cord in 100-150 sections. The outlines of labelled cells were traced with a Nikon drawing attachment. For one Epon-embedded spinal cord sectioned at 4 micron, tracings were superimposed to form complete maps for 0.6-1.5-mm lengths in three representative regions of cord: rostral (gill region), caudal (dorsal fin region), and midsection. The labelled neurons were small (5-10-micron diameter) cells distributed throughout the central gray columns. They numbered 22 cells per hemisegment in the rostral region, 33 in the midsection, and 43 in the caudal region. None of the previously identified cell types were labelled, including lateral interneurons, edge cells, giant interneurons, dorsal cells, and Müller and Mauthner axons.

Thyrotropin-releasing hormone (TRH) levels were measured by radioimmunoassay in the CNS of larval and adult sea lampreys and adult river lampreys. In larval sea lampreys, the pituitary complex contained approx. 609 pg TRH/mg, brain contained 43.5 +/- 5.5 pg/mg (mean +/- S.E.M.) while the spinal cord contained 11.2 +/- 2.3 pg/mg. Corresponding levels in the adult sea and river lampreys were similar. Complete spinal transection did not significantly alter TRH levels below the lesion. Thus, the spinal cord contains TRH independent of supraspinal axonal projections.