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81.
82.
Tracey Williamson Laurence Kenney Anthony T. Barker Glen Cooper Tim Good Jamie Healey 《Disability and rehabilitation. Assistive technology》2015,10(3):258-265
Purpose: To appraise the application of accepted good practice guidance on public involvement in assistive technology research and to identify its impact on the research team, the public, device and trial design. Methods: Critical reflection and within-project evaluation were undertaken in a case study of the development of a functional electrical stimulation device. Individual and group interviews were undertaken with lay members of a 10 strong study user advisory group and also research team members. Results: Public involvement was seen positively by research team members, who reported a positive impact on device and study designs. The public identified positive impact on confidence, skills, self-esteem, enjoyment, contribution to improving the care of others and opportunities for further involvement in research. A negative impact concerned the challenge of engaging the public in dissemination after the study end. Conclusions: The public were able to impact significantly on the design of an assistive technology device which was made more fit for purpose. Research team attitudes to public involvement were more positive after having witnessed its potential first hand. Within-project evaluation underpins this case study which presents a much needed detailed account of public involvement in assistive technology design research to add to the existing weak evidence base.
- Implications for Rehabilitation
The evidence base for impact of public involvement in rehabilitation technology design is in need of development.
Public involvement in co-design of rehabilitation devices can lead to technologies that are fit for purpose.
Rehabilitation researchers need to consider the merits of active public involvement in research.
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84.
Gabriela E Jones Pia Ostergaard Anthony T Moore Fiona C Connell Denise Williams Oliver Quarrell Angela F Brady Isabel Spier Filiz Hazan Oana Moldovan Dagmar Wieczorek Barbara Mikat Florence Petit Christine Coubes Robert A Saul Glen Brice Kristiana Gordon Steve Jeffery Peter S Mortimer Pradeep C Vasudevan Sahar Mansour 《European journal of human genetics : EJHG》2014,22(7):881-887
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified. Mutations in the kinesin family member 11 (KIF11) gene have now been described in 16 families worldwide. This is a review of the condition based on the clinical features of 37 individuals from 22 families. This report includes nine previously unreported families and additional information for some of those reported previously. The condition arose de novo in 8/20 families (40%). The parental results were not available for two probands. The mutations were varied and include missense, nonsense, frameshift, and splice site and are distributed evenly throughout the KIF11 gene. In our cohort, 86% had microcephaly, 78% had an ocular abnormality consistent with the diagnosis, 46% had lymphoedema, 73% had mild-moderate learning difficulties, 8% had epilepsy, and 8% had a cardiac anomaly. We identified three individuals with KIF11 mutations but no clinical features of MCLMR demonstrating reduced penetrance. The variable expression of the phenotype and the presence of mildly affected individuals indicates that the prevalence may be higher than expected, and we would therefore recommend a low threshold for genetic testing. 相似文献
85.
Shengting Li Soren Besenbacher Yingrui Li Karsten Kristiansen Niels Grarup Anders Albrechtsen Thomas Spars? Thorfinn Korneliussen Torben Hansen Jun Wang Rasmus Nielsen Oluf Pedersen Lars Bolund Mikkel H Schierup 《European journal of human genetics : EJHG》2014,22(8):1040-1045
In this paper, we mine full mtDNA sequences from an exome capture data set of 2000 Danes, showing that it is possible to get high-quality full-genome sequences of the mitochondrion from this resource. The sample includes 1000 individuals with type 2 diabetes and 1000 controls. We characterise the variation found in the mtDNA sequence in Danes and relate the variation to diabetes risk as well as to several blood phenotypes of the controls but find no significant associations. We report 2025 polymorphisms, of which 393 have not been reported previously. These 393 mutations are both very rare and estimated to be caused by very recent mutations but individuals with type 2 diabetes do not possess more of these variants. Population genetics analysis using Bayesian skyline plot shows a recent history of rapid population growth in the Danish population in accordance with the fact that >40% of variable sites are observed as singletons. 相似文献
86.
A Short‐Read Multiplex Sequencing Method for Reliable,Cost‐Effective and High‐Throughput Genotyping in Large‐Scale Studies 下载免费PDF全文
Hongzhi Cao Yu Wang Wei Zhang Xianghua Chai Xiandong Zhang Shiping Chen Fan Yang Caifen Zhang Yulai Guo Ying Liu Zhoubiao Tang Caifen Chen Yaxin Xue Hefu Zhen Yinyin Xu Bin Rao Tao Liu Meiru Zhao Wenwei Zhang Yingrui Li Xiuqing Zhang Laurent C. A. M. Tellier Anders Krogh Karsten Kristiansen Jun Wang Jian Li 《Human mutation》2014,35(2):270-270
87.
Mixotrophic basis of Atlantic oligotrophic ecosystems 总被引:1,自引:0,他引:1
Hartmann M Grob C Tarran GA Martin AP Burkill PH Scanlan DJ Zubkov MV 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(15):5756-5760
Oligotrophic subtropical gyres are the largest oceanic ecosystems, covering >40% of the Earth's surface. Unicellular cyanobacteria and the smallest algae (plastidic protists) dominate CO(2) fixation in these ecosystems, competing for dissolved inorganic nutrients. Here we present direct evidence from the surface mixed layer of the subtropical gyres and adjacent equatorial and temperate regions of the Atlantic Ocean, collected on three Atlantic Meridional Transect cruises on consecutive years, that bacterioplankton are fed on by plastidic and aplastidic protists at comparable rates. Rates of bacterivory were similar in the light and dark. Furthermore, because of their higher abundance, it is the plastidic protists, rather than the aplastidic forms, that control bacterivory in these waters. These findings change our basic understanding of food web function in the open ocean, because plastidic protists should now be considered as the main bacterivores as well as the main CO(2) fixers in the oligotrophic gyres. 相似文献
88.
STING manifests self DNA-dependent inflammatory disease 总被引:1,自引:0,他引:1
Jeonghyun Ahn Delia Gutman Shinobu Saijo Glen N. Barber 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(47):19386-19391
Inflammatory autoimmune diseases such as systemic lupus erythematosus (SLE) and polyarthritis are characterized by chronic cytokine overproduction, suggesting that the stimulation of host innate immune responses, speculatively by persistent infection or self nucleic acids, plays a role in the manifestation of these disorders. Mice lacking DNase II die during embryonic development through comparable inflammatory disease because phagocytosed DNA from apoptotic cells cannot be adequately digested and intracellular host DNA sensor pathways are engaged, resulting in the production of a variety of cytokines including type I IFN. The cellular sensor pathway(s) responsible for triggering DNA-mediated inflammation aggravated autoimmune disease remains to be determined. However, we report here that Stimulator of IFN Genes (STING) is responsible for inflammation-related embryonic death in DNase II defective mice initiated by self DNA. DNase II-dependent embryonic lethality was rescued by loss of STING function, and polyarthritis completely prevented because cytosolic DNA failed to robustly trigger cytokine production through STING-controlled signaling pathways. Our data provides significant molecular insight into the causes of DNA-mediated inflammatory disorders and affords a target that could plausibly be therapeutically controlled to help prevent such diseases. 相似文献
89.
Aging degrades hematopoietic stem cell (HSC) functions, including stress response; however, the involved molecular pathways are incompletely defined. Murine BM conditionally deleted for One-Twenty-Two-1 (Ott1), is able to maintain lifelong hematopoiesis and has preserved numbers of long-term HSCs, yet cannot repopulate nor sustain itself after transplantation against a competitor even when Ott1 is excised after engraftment. We show, specifically under replicative stress, that Ott1-deleted HSCs have a significant reduction of the G(0) cell-cycle fraction associated with self-renewal and undergo early failure. Therefore, Ott1 is required to preserve HSC quiescence during stress but not steady-state hematopoiesis. Reduced tolerance of replicative stress, increased myeloid potential, and greater absolute numbers are mutual characteristics of both Ott1-deleted and aged HSCs, and comparison of their gene expression profiles reveals a shared signature. Ott1-deleted HSCs share multiple aging-associated physiologic changes, including increases in NF-κB activation and DNA damage. Loss of Ott1 causes increased reactive oxygen species; however, antioxidant treatment does not rescue the competitive defect, indicating the existence of additional essential Ott1-dependent HSC pathways. In conclusion, our data establish a requirement for Ott1 in stress hematopoiesis and suggest that Ott1-dependent processes may converge with those affected by aging. 相似文献
90.