Introduction: Physical activity can buffer psychological stress and promote health benefits. A population who is vulnerable to sedentary behaviour, as well as developing psychological problems, are people with a disability. While existing research has explored the barriers and facilitators of physical activity participation for adults with disabilities, little research has taken the perspective of young people with disabilities, or that of practitioners who facilitate access to physical activity programs.
Genome-wide association studies (GWAS) use high-throughput genotyping technologies to genotype thousands of single-nucleotide polymorphisms (SNPs) and relate them to the development of clinical and quantitative traits. Their use has been highly successful in the field of ophthalmology, and since the advent of GWAS in 2005, many genes not previously suspected of having a role in disease have been identified and the findings replicated. We conducted an extensive literature review and describe the concept, design, advantages, and limitations of GWAS and provide a detailed description of the applications and discoveries of GWAS in the field of eye disease to date. There have been many novel findings revealing previously unknown biological insights in a diverse range of common ocular conditions. GWAS have been a highly successful modality for investigating the pathogenesis of a wide variety of ophthalmic conditions. The insights gained into the pathogenesis of disease provide not only a better understanding of underlying disease mechanism but also offer a rationale for targeted treatment and preventative strategies. Expansive international collaboration and standardised phenotyping will permit the continued success of this investigative technique.
In this study, we explored prediction of human height, high-density lipoproteins (HDL) and body mass index (BMI) using SNPs within a Croatian (N=2,186) and into a UK population (N=810) in Bayes-C (using Gibbs sampling) and G-BLUP frameworks. Correlation between predicted and observed trait values in 10-fold cross-validation was used to assess prediction accuracy. Using all available 263,357 SNPs, Bayes-C and G-BLUP had similar prediction accuracy across traits within the Croatian data, and for height and BMI when predicting into the UK population. However, Bayes-C outperformed G-BLUP in the prediction of less polygenic HDL into the UK population. Supervised feature selection allowed G-BLUP to achieve equivalent predictive performance to Bayes-C across all three traits with greatly reduced computational effort. Feature selection in the GBLUP framework therefore provides a flexible and efficient alternative to computationally expensive BayesC for traits considered in this study.
Variable-depth streamer acquisition is a solution for broadband marine seismic, which utilizes a Joint deconvolution deghosting technique to remove the receiver ghosts and extend the usable primary bandwidth of up to 6 octaves, from 2.5 Hz to source notch. This receiver-side solution can be combined with a new synchronized multi-level source to unlock the source ghost limit, providing seismic data reaching 200 Hz while preserving the low frequencies. One key advantage of this complementary source and receiver acquisition technique is to provide seismic data which could be processed with sequences already developped for Variable-depth streamer, with the necessary updates required by better handling of extra high frequencies. A synchronized multi-level source combined with variable-depth streamer has been successfully tested and applied in various 2D and 3D cases, in both shallow and deep water environments in North Sea.
Dermatomyositis has a known association with malignancy. We report a case of dermatomyositis occurring in early-stage testicular cancer where the patient was in remission. It stresses the importance of considering testicular cancer as an association with dermatomyositis, as it is a potentially curable malignancy.
Aim: This study describes, in detail, the phenotype of late-onset retinal macular degeneration (L-ORMD) an inherited condition affecting both the retina and anterior segment. A staging based on clinical characteristics is proposed, and the relevance of this condition to current understanding of age-related macular degeneration is discussed.Methods: A systematic review of the literature regarding this condition supports a detailed description of the natural history. Clinical experiences in identifying, monitoring and managing patients are also presented.Results: L-ORMD is a rare fully penetrant autosomal dominant condition resulting from a mutation in the C1QTNF5 gene on chromosome 11. Affected individuals develop bilateral loss of vision, dark-adaptation abnormalities, fundus drusen-like yellow spots, midperipheral pigmentation, choroidal neovascularisation, chorioretinal atrophy and long anteriorly inserted lens zonules. Patients may benefit from treatment with high-dose vitamin A.Conclusions: Raised awareness of L-ORMD should lead to earlier diagnosis and improved care for patients. New antivascular endothelial growth factor treatment may provide a new possibility for management. A deeper insight into molecular and genetic mechanisms of L-ORMD may suggest avenues to explore new treatments of this disorder.
Accepted 22 November 2008 Published Online First 19 December 2008 ABSTRACT Aim: This study describes, in detail, the phenotype of late-onset retinal macular degeneration (L-ORMD) an inherited condition affecting both the retina and anterior segment. A staging based on clinical characteristics is proposed, and the relevance of this condition to current understanding of age-related macular degeneration is discussed. Methods: A systematic review of the literature regarding this condition supports a detailed description of the natural history. Clinical experiences in identifying, monitoring and managing patients are also presented. Results: L-ORMD is a rare fully penetrant autosomal dominant condition resulting from a mutation in the C1QTNF5 gene on chromosome 11. Affected individuals develop bilateral loss of vision, dark-adaptation abnormalities, fundus drusen-like yellow spots, midperipheral pigmentation, choroidal neovascularisation, chorioretinal atrophy and long anteriorly inserted lens zonules. Patients may benefit from treatment with high-dose vitamin A. Conclusions: Raised awareness of L-ORMD should lead to earlier diagnosis and improved care for patients. New antivascular endothelial growth factor treatment may provide a new possibility for management. A deeper insight into molecular and genetic mechanisms of LORMD may suggest avenues to explore new treatments of this disorder.
The feel‐good factor we feel after exercise is well documented: aside from the endorphins ‐ the 'happy hormones' ‐ that our bodies produce, the sense of achievement, being outdoors and doing something different can all lead to a sense of well‐being and contentment. In our next article, contributors Alan Wright and Dr Mima Cattan report on the findings of their study into hospital‐based exercise groups to help patients overcome depression.
AIM:This study describes, in detail, the phenotype of late-onset retinal macular degeneration (L-ORMD) an inherited condition affecting both the retina and anterior segment. A staging based on clinical characteristics is proposed, and the relevance of this condition to current understanding of age-related macular degeneration is discussed. METHODS:A systematic review of the literature regarding this condition supports a detailed description of the natural history. Clinical experiences in identifying, monitoring and managing patients are also presented. RESULTS:L-ORMD is a rare fully penetrant autosomal dominant condition resulting from a mutation in the C1QTNF5 gene on chromosome 11. Affected individuals develop bilateral loss of vision, dark-adaptation abnormalities, fundus drusen-like yellow spots, midperipheral pigmentation, choroidal neovascularisation, chorioretinal atrophy and long anteriorly inserted lens zonules. Patients may benefit from treatment with high-dose vitamin A. CONCLUSIONS:Raised awareness of L-ORMD should lead to earlier diagnosis and improved care for patients. New antivascular endothelial growth factor treatment may provide a new possibility for management. A deeper insight into molecular and genetic mechanisms of L-ORMD may suggest avenues to explore new treatments of this disorder.
Between the World Wars use of a concave profiled concrete surface (a sound mirror) to reflect sound waves was thought to be the answer to the early detection of aerial attack. Ultimately, this technology was superseded by radar and the experimental work on sound reflection and collection was abandoned. As a result, the south and east coast of England is scattered with the remains of such forgotten concrete structures. The only extant collection of these structures is at Greatstone in Kent, where three sound mirrors remain and have been listed as scheduled monuments. One of the largest projects funded by the Aggregate Levy Sustainability Fund and managed by English Heritage was concerned with stabilizing these structures and undertaking research into their repair. This paper aims to outline the conservation approach to the project and to detail the concrete repair techniques trialled. It also highlights some pointers for the repair of twentieth-century concrete based on the advice of a master mason and a concrete repair contractor. Finally, the long-term monitoring that is in place for the carbonation inhibitors and cathodic protection systems that are installed on these structures are detailed.
CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature ,