Wheelchair and seating assistive technology provision: a gateway to freedom

Aim: The meaning of wheelchair and seating assistive technology and the impact inappropriate provision has on people’s lives from a service user’s perspective within an Irish context is highlighted. There is a dearth in evidence examining the process of wheelchair and seating provision and the interconnectedness between satisfaction, performance and participation from an equality and human rights perspective. The purpose if the study is to investigate wheelchair service users’ perspectives of wheelchair and seating provision in Ireland.Method: This is a mixed-methods study with an exploratory sequential design that includes two phases. During phase one, wheelchair service users were invited to take part in qualitative in-depth semi-structured interviews, which were thematically analysed and formed part of a larger ethnographic study involving multiple stakeholders in sustainable wheelchair and seating provision strategy development. In phase two, an online Survey Monkey questionnaire was distributed to obtain a wider overview of wheelchair service provision from a wheelchair service users perspective. Data obtained from the closed questions and content analysis for open comments was analysed descriptively for this phase.Results: Eight wheelchair service users agreed to participate in the interviews and 273 responded to the online survey. Thematic analysis and questionnaire frequency and content analysis revealed the vital meaning of wheelchair and seating assistive technology provision. However, bottlenecks within the system affect daily living, with qualitative data highlighting the obstruction to experiences of independent living from initial appointment to wheelchair breakdowns during daily life.Conclusion: Appropriate wheelchair and seating assistive technology provision is a basic human right, supported by the essential and embodied nature of the wheelchair as demonstrated through the wheelchair service users’ perspective throughout this study. These findings highlight the impact of ad-hoc services on individual freedoms and how the overall pace of the system affects a person’s ability to organise their time as an equal member of the community across the lifespan. A national review of wheelchair and seating assistive technology provision services is called for, giving consideration to access to services, assessment and delivery, follow up and management, education and training

Peptidyl-prolyl isomerases : A full cast of critical actors in cardiovascular diseases

Peptidyl-prolyl cis-trans-isomerases are a highly conserved family of immunophilins. The three peptidyl-prolyl cis-trans-isomerase subfamilies are cyclophilins, FK-506-binding proteins, and parvulins. Peptidyl-prolyl cis-trans-isomerases are expressed in multiple human tissues and regulate different cellular functions, e.g. calcium handling, protein folding, and gene expression. Moreover, these subfamilies have been shown to be consistently involved in several cardiac and vascular diseases including heart failure, arrhythmias, vascular stenosis, endothelial dysfunction, atherosclerosis, and hypertension. This review provides a concise description of the peptidyl-prolyl cis-trans-isomerases and presents an incisive selection of studies focused on their relationship with cardiovascular diseases

Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C

Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD is generally less severe than Duchenne Muscular Dystrophy. BMD is caused by mutations in the dystrophin gene that normally give rise to the production of a truncated but partially functional dystrophin protein. We generated an induced pluripotent cell line from dermal fibroblasts of a BMD patient carrying a splice mutation in the dystrophin gene (c.1705-8 T>C). The iPSC cell-line displayed the characteristic pluripotent-like morphology, expressed pluripotency markers, differentiated into cells of the three germ layers and had a normal karyotype

The nuclear pore protein Nup153 associates with chromatin and regulates cardiac gene expression in dystrophic mdx hearts.

Aims Beyond the control of nuclear-cytoplasmic trafficking nucleoporins regulate gene expression and are involved in cardiac diseases. Notably, a number of cardiovascular disorders have been linked to alterations in epigenetic mechanisms. Here we aimed to determine the contribution of Nup153 to the epigenetic alterations occurring in cardiomyopathy of dystrophin-deficient mdx mice (C57BL/10ScSn-Dmdmdx/J). Methods and results Nup153 was lysine-acetylated and its expression was significantly increased at protein level in mdx hearts compared with controls. Accordingly, lysine acetyl transferase (KAT) activity associated with Nup153 was higher in mdx hearts paralleling increased binding with the lysine acetylases P300/CBP-associated factor (PCAF) and p300. Interestingly, Nup153 silencing in mdx organotypic heart tissue slices caused a reduction in PCAF- and p300-specific activities. Remarkably, the level of nitric oxide (NO), which is reduced in mdx mice, was important for KAT-dependent regulation of Nup153. In fact, treatment of mdx heart tissue with an NO donor or the KAT inhibitor anacardic acid normalized Nup153 protein expression. Nup153 was recruited to chromatin and regulated the transcription of genes involved in cardiac remodelling, including the actin-binding protein nexilin. Accordingly, nexilin protein expression was abrogated by Nup153 silencing in mdx organotypic cultures. Electrophysiological and molecular experiments revealed that Nup153 overexpression in normal cardiomyocytes increases Cav1.2 calcium channel expression and function. Alterations in Nup153 protein expression and intracellular localization were also found in dystrophic cardiomyocytes derived from patient-specific induced pluripotent stem cells. Importantly, Nup153 up-regulation and increased acetylation were also found in the heart of Duchenne muscular dystrophy patients. Conclusions Our data indicate that Nup153 is an epigenetic regulator which, upon altered NO signalling, mediates the activation of genes potentially associated with early dystrophic cardiac remodelling

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)

Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutation in either the CREBBP (RSTS1) or EP300 (RSTS2) genes. We generated an induced pluripotent stem cell line from an RSTS2 patient's blood mononuclear cells by Sendai virus non integrative reprogramming method. The iPSC line (IAIi001RSTS2-65-A) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was stable by karyotyping. Mutation and western blot analyses demonstrated in IAIi001RSTS2-65-A the patient's specific non sense mutation in exon 23 c.3829A > T, p.(Lys 1277*) and showed reduced quantity of wild type p300 protein

Wheelchair service provision education for healthcare professional students, healthcare personnel and educators across low- to high-resourced settings: a scoping review

Purpose This review aimed to collate and summarize available research literature about wheelchair service provision education available to healthcare professional students, healthcare personnel and educators across low- to high-resourced settings. Methods The Joanna Briggs Institute methodological steps for scoping reviews were followed. Included studies were mainly sourced from Medline, Embase, CINAHL, Scopus, Academic Search Complete and ProQuest. Independent title, abstract and full-text screening with defined inclusion and exclusion criteria was performed. All screening and extraction were performed independently by two authors. A thematic approach was used to synthesize results. Data extracted from included studies were charted according to a template that we created. The study quality was also appraised. Results A total of 25 articles were included (11, 36% from high-income settings) with 12 (48%) observational studies and 13 (52%) experimental studies. The literature addressed three main topics: (1) assessing wheelchair service provision knowledge, (2) implementing training interventions using in-person, online and/or hybrid learning approaches and (3) describing current wheelchair service provision education globally. The most frequently reported training programs used were the Wheelchair Skills Program and the World Health Organization Wheelchair Service Training Package – Basic Level. Conclusion Limited information has been published about the integration of wheelchair content into the curricula of professional rehabilitation programs. Efforts to build international partnerships, improve the quality and currency of training programs and build resources that can assist educators in the integration of wheelchair-related content into professional rehabilitation programs should be prioritized. Implications for Rehabilitation This is the first review that examined and synthesized the current state of wheelchair service provision education for rehabilitation students and personnel across low- to high-income countries. Findings from this review indicate that there is limited information about the integration of wheelchair-related content into professional rehabilitation programs. Efforts to build international partnerships, standardize wheelchair service provision content and evaluation and integrate training into professional rehabilitation programs worldwide should be prioritized

2018 - PMID: 29414413

Tra-1-60 quatification by FACS, Fig 1 C