A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal Defects

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Telerehabilitation for people with physical disabilities and movement impairment: development and evaluation of an online toolkit for practitioners and patients.

PURPOSE: Telerehabilitation has increasingly been used since the COVID-19 pandemic but with limited guidance available on undertaking physical assessments using remote methods. We aimed to provide such guidance by developing a Telerehab Toolkit, an online information and training resource for practitioners, patients, and carers on telerehabilitation for people with physical disabilities and movement impairment. MATERIALS AND METHODS: Development and evaluation of the toolkit were informed by the Knowledge to Action framework and took place iteratively in two phases-knowledge creation and action. Information was collated from various sources including literature review, online survey, service evaluation, and focus group discussions. The toolkit has been evaluated using think-aloud interviews, e-mail and social media feedback from users, and analytics data on user engagement with the website. RESULTS: The Telerehab Toolkit focuses on remote physical assessments, and contains information on technology, digital skills, remote assessment tools, information governance, and safety for telerehabilitation. Resources include top tips from practitioners and patients, how-to guides, checklists, videos, and links to evidence. CONCLUSIONS: The Telerehab Toolkit has been well-received by practitioners, healthcare students, patients, and carers, is being disseminated widely, and is freely available (www.plymouth.ac.uk/research/telerehab). IMPLICATIONS FOR REHABILITATIONTelerehabilitation has been increasingly used since the COVID-19 pandemic, but with limited guidance and training for practitioners on undertaking safe and effective remote physical assessments.The Telerehab Toolkit has been developed iteratively using the Knowledge to Action framework; it is a free online resource for practitioners and patients with specific guidance on telerehabilitation for physical disabilities and movement impairment.It is anticipated that the resource will help to improve the knowledge, skills, and confidence of the current and future rehabilitation workforce

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

HARS2 encodes mitochondrial histidyl-tRNA synthetase (HARS2), which links histidine to its cognate tRNA in the mitochondrial matrix. Biallelic variants in HARS2 are associated with Perrault syndrome, a rare recessive condition characterized by sensorineural hearing loss in both sexes and primary ovarian insufficiency in 46,XX females. Some individuals with Perrault syndrome have a broader phenotypic spectrum with neurological features, including ataxia and peripheral neuropathy. Here, we report a recurrent variant in HARS2 in association with sensorineural hearing loss. In affected individuals from three unrelated families, the variant HARS2 c.1439G>A p.(Arg480His) is present as a heterozygous variant in trans to a putative pathogenic variant. The low prevalence of the allele HARS2 c.1439G>A p.(Arg480His) in the general population and its presence in three families with hearing loss, confirm the pathogenicity of this variant and illustrate the presentation of Perrault syndrome as nonsyndromic hearing loss in males and prepubertal females

A Systematic Review of Neurofeedback for the Management of Motor Symptoms in Parkinson’s Disease

Background: Neurofeedback has been proposed as a treatment for Parkinson’s disease (PD) motor symptoms by changing the neural network activity directly linked with movement. However, the effectiveness of neurofeedback as a treatment for PD motor symptoms is unclear. Aim: To systematically review the literature to identify the effects of neurofeedback in people with idiopathic PD; as defined by measurement of brain activity; motor function; and performance. Design: A systematic review. Included Sources and Articles: PubMed; MEDLINE; Cinhal; PsychoInfo; Prospero; Cochrane; ClinicalTrials.gov; EMBASE; Web of Science; PEDro; OpenGrey; Conference Paper Index; Google Scholar; and eThos; searched using the Population-Intervention-Comparison-Outcome (PICO) framework. Primary studies with the following designs were included: randomized controlled trials (RCTs), non-RCTs; quasi-experimental; pre/post studies; and case studies. Results: This review included 11 studies out of 6197 studies that were identified from the literature search. Neuroimaging methods used were fMRI; scalp EEG; surface brain EEG; and deep brain EEG; where 10–15 Hz and the supplementary motor area were the most commonly targeted signatures for EEG and fMRI, respectively. Success rates for changing one’s brain activity ranged from 47% to 100%; however, both sample sizes and success criteria differed considerably between studies. While six studies included a clinical outcome; a lack of consistent assessments prevented a reliable conclusion on neurofeedback’s effectiveness. Narratively, fMRI neurofeedback has the greatest potential to improve PD motor symptoms. Two main limitations were found in the studies that contributed to the lack of a confident conclusion: (1) insufficient clinical information and perspectives (e.g., no reporting of adverse events), and (2) limitations in numerical data reporting (e.g., lack of explicit statistics) that prevented a meta-analysis. Conclusions: While fMRI neurofeedback was narratively the most effective treatment; the omission of clinical outcome measures in studies using other neurofeedback approaches limits comparison. Therefore, no single neurofeedback type can currently be identified as an optimal treatment for PD motor symptoms. This systematic review highlights the need to improve the inclusion of clinical information and more robust reporting of numerical data in future work. Neurofeedback appears to hold great potential as a treatment for PD motor symptoms. However, this field is still in its infancy and needs high quality RCTs to establish its effectiveness. Review Registration: PROSPERO (ID: CRD42020191097).</p

The biodiversity hypothesis and allergic disease: world allergy organization position statement

Peer reviewe

Evaluating physical activity in dementia: a systematic review of outcomes to inform the development of a core outcome set

Background: physical activity is recommended for people living with dementia, but evidence for the positive effects of physical activity is limited by the use of heterogeneous outcomes and measurement tools. This systematic literature review aimed to summarise previously reported outcomes and identify the measurement tools used most frequently in physical activity interventions for people with dementia. Methods: literature searches were conducted in April 2015, on Delphis and Medline. Qualitative, quantitative and mixed methods studies reporting on any type of physical activity, in any setting, across types of dementia, stages of disease progression and published from 2005 onwards were included. A content analysis approach was used to report on the frequency of reported outcomes and measurement tools. Results: the 130 included studies reported on 133 different outcome domains and 267 different measurement tools. 'Functional abilities and independence' (n = 69), 'Global cognitive function' (n = 65), 'Balance' (n = 43), 'Global behavioural symptoms of dementia' (n = 42) and 'Health-related quality of life' (n = 40) were the most frequently reported outcome domains. 'Enjoyment' was the outcome most frequently sought by patients and carers. Conclusion: the need for the development and implementation of a Core Outcome Set has been reinforced. Ahead of the completion of the Core Outcome Set, researchers and clinicians are advised to measure the impact of physical activity interventions on these frequently reported outcome domains.</p

Translation of evidence-based Assistive Technologies into stroke rehabilitation: Users' perceptions of the barriers and opportunities

Background: Assistive Technologies (ATs), defined as "electrical or mechanical devices designed to help people recover movement", demonstrate clinical benefits in upper limb stroke rehabilitation; however translation into clinical practice is poor. Uptake is dependent on a complex relationship between all stakeholders. Our aim was to understand patients', carers' (P&Cs) and healthcare professionals' (HCPs) experience and views of upper limb rehabilitation and ATs, to identify barriers and opportunities critical to the effective translation of ATs into clinical practice. This work was conducted in the UK, which has a state funded healthcare system, but the findings have relevance to all healthcare systems. Methods. Two structurally comparable questionnaires, one for P&Cs and one for HCPs, were designed, piloted and completed anonymously. Wide distribution of the questionnaires provided data from HCPs with experience of stroke rehabilitation and P&Cs who had experience of stroke. Questionnaires were designed based on themes identified from four focus groups held with HCPs and P&Cs and piloted with a sample of HCPs (N = 24) and P&Cs (N = 8). Eight of whom (four HCPs and four P&Cs) had been involved in the development. Results: 292 HCPs and 123 P&Cs questionnaires were analysed. 120 (41%) of HCP and 79 (64%) of P&C respondents had never used ATs. Most views were common to both groups, citing lack of information and access to ATs as the main reasons for not using them. Both HCPs (N = 53 [34%]) and P&C (N = 21 [47%]) cited Functional Electrical Stimulation (FES) as the most frequently used AT. Research evidence was rated by HCPs as the most important factor in the design of an ideal technology, yet ATs they used or prescribed were not supported by research evidence. P&Cs rated ease of set-up and comfort more highly. Conclusion: Key barriers to translation of ATs into clinical practice are lack of knowledge, education, awareness and access. Perceptions about arm rehabilitation post-stroke are similar between HCPs and P&Cs. Based on our findings, improvements in AT design, pragmatic clinical evaluation, better knowledge and awareness and improvement in provision of services will contribute to better and cost-effective upper limb stroke rehabilitation. © 2014 Hughes et al.; licensee BioMed Central Ltd

Genetic Studies of Sulfadiazine-resistant and Methionine-requiring \u3cem\u3eNeisseria\u3c/em\u3e Isolated From Clinical Material

Deoxyribonucleate (DNA) preparations were extracted from Neisseria meningitidis (four isolates from spinal fluid and blood) and N. gonorrhoeae strains, all of which were resistant to sulfadiazine upon primary isolation. These DNA preparations, together with others from in vitro mutants of N. meningitidis and N. perflava, were examined in transformation tests by using as recipient a drug-susceptible strain of N. meningitidis (Ne 15 Sul-s Met+) which was able to grow in a methionine-free defined medium. The sulfadiazine resistance typical of each donor was introduced into the uniform constitution of this recipient. Production of p-aminobenzoic acid was not significantly altered thereby. Transformants elicited by DNA from the N. meningitidis clinical isolates were resistant to at least 200 μg of sulfadiazine/ml, and did not show a requirement for methionine (Sul-r Met+). DNA from six strains of N. gonorrhoeae, which were isolated during the period of therapeutic use of sulfonamides, conveyed lower degrees of resistance and, invariably, a concurrent methionine requirement (Sul-r/Met−). The requirement of these transformants, and that of in vitro mutants selected on sulfadiazine-agar, was satisfied by methionine, but not by vitamin B12, homocysteine, cystathionine, homoserine, or cysteine. Sul-r Met+ and Sul-r/Met− loci could coexist in the same genome, but were segregated during transformation. On the other hand, the dual Sul-r/Met− properties were not separated by recombination, but were eliminated together. DNA from various Sul-r/Met− clones tested against recipients having nonidentical Sul-r/Met− mutant sites yielded Sul-s Met+ transformants. The met locus involved is genetically complex, and will be a valuable tool for studies of genetic fine structure of members of Neisseria, and of genetic homology between species

Conceptualisation of the 'good' self-manager: A qualitative investigation of stakeholder views on the self-management of long-term health conditions.

Healthcare policy in developed countries has, in recent years, promoted self-management among people with long-term conditions. Such policies are underpinned by neoliberal philosophy, as seen in the promotion of greater individual responsibility for health through increased support for self-management. Yet still little is known about how self-management is understood by commissioners of healthcare services, healthcare professionals, people with long-term conditions and family care-givers. The evidence presented here is drawn from a two-year study, which investigated how self-management is conceptualised by these stakeholder groups. Conducted in the UK between 2013 and 2015, this study focused on three exemplar long-term conditions, stroke, diabetes and colorectal cancer, to explore the issue. Semi-structured interviews and focus groups were carried out with 174 participants (97 patients, 35 family care-givers, 20 healthcare professionals and 22 commissioners). The data is used to demonstrate how self-management is framed in terms of what it means to be a 'good' self-manager. The 'good' self-manager is an individual who is remoralised; thus taking responsibility for their health; is knowledgeable and uses this to manage risks; and, is 'active' in using information to make informed decisions regarding health and social wellbeing. This paper examines the conceptualisation of the 'good' self-manager. It demonstrates how the remoralised, knowledgeable and active elements are inextricably linked, that is, how action is knowledge applied and how morality underlies all action of the 'good' self-manager. Through unpicking the 'good' self-manager the problems of neoliberalism are also revealed and addressed here

Conceptualisation of the ‘good’ self-manager: A qualitative investigation of stakeholder views on the self-management of long-term health conditions

publisher: Elsevier articletitle: Conceptualisation of the ‘good’ self-manager: A qualitative investigation of stakeholder views on the self-management of long-term health conditions journaltitle: Social Science & Medicine articlelink: http://dx.doi.org/10.1016/j.socscimed.2017.01.018 content_type: article copyright: © 2017 Elsevier Ltd. All rights reserved