| 1. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
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Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 2. |
- Alimena, Juliette, et al.
(författare)
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Searching for long-lived particles beyond the Standard Model at the Large Hadron Collider
- 2020
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Ingår i: Journal of Physics G. - : IOP Publishing. - 0954-3899 .- 1361-6471. ; 47:9
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Tidskriftsartikel (refereegranskat)abstract
- Particles beyond the Standard Model (SM) can generically have lifetimes that are long compared to SM particles at the weak scale. When produced at experiments such as the Large Hadron Collider (LHC) at CERN, these long-lived particles (LLPs) can decay far from the interaction vertex of the primary proton-proton collision. Such LLP signatures are distinct from those of promptly decaying particles that are targeted by the majority of searches for new physics at the LHC, often requiring customized techniques to identify, for example, significantly displaced decay vertices, tracks with atypical properties, and short track segments. Given their non-standard nature, a comprehensive overview of LLP signatures at the LHC is beneficial to ensure that possible avenues of the discovery of new physics are not overlooked. Here we report on the joint work of a community of theorists and experimentalists with the ATLAS, CMS, and LHCb experiments-as well as those working on dedicated experiments such as MoEDAL, milliQan, MATHUSLA, CODEX-b, and FASER-to survey the current state of LLP searches at the LHC, and to chart a path for the development of LLP searches into the future, both in the upcoming Run 3 and at the high-luminosity LHC. The work is organized around the current and future potential capabilities of LHC experiments to generally discover new LLPs, and takes a signature-based approach to surveying classes of models that give rise to LLPs rather than emphasizing any particular theory motivation. We develop a set of simplified models; assess the coverage of current searches; document known, often unexpected backgrounds; explore the capabilities of proposed detector upgrades; provide recommendations for the presentation of search results; and look towards the newest frontiers, namely high-multiplicity 'dark showers', highlighting opportunities for expanding the LHC reach for these signals.
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| 3. |
- Anney, Richard, et al.
(författare)
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A genome-wide scan for common alleles affecting risk for autism.
- 2010
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 19:20, s. 4072-4082
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Tidskriftsartikel (refereegranskat)abstract
- Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
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| 4. |
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| 5. |
- Hermansson, Liselotte, 1954-, et al.
(författare)
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Treatment for upper limb malformation in different areas of the world
- 2019
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Konferensbidrag (refereegranskat)abstract
- Children with upper limb malformation may present with deficiencies in many ways and the treatment that they are offered may vary greatly around the world. Handsmart is a volunteer organization with the mission to support and empower people world-wide who are engaged in this field of rehabilitation through www.handsmart.org. A web-based survey was used to gather data about treatment for children with upper limb malformation in different areas of the world. Sixty-eight respondents from 18 countries representing Oceania, Asia, Europe, and North America with 35 occupational therapists, 6 physiotherapists, 23 prosthetists, and four other health care professionals participated. Only five countries do not have governmental funding for the provision of care for people with upper limb loss. Intervention is guided by the presentation of the limb. Most surgical procedures are made for functional benefits. Not all respondents report that they fit body-powered prostheses for children. The majority of respondents stated that training is offered for use of the prosthesis in their country. In some clinics (12 of 68 respondents), no treatment other than functional prostheses is provided for these children. Overuse or repetitive strain injuries are common with this population, especially as children age into adolescence and adulthood. Many people stated they would like to see clear guidelines used by multi-disciplinary teams to fit children. Recommendations should include treatment guidelines and follow-up practices.
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| 6. |
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| 7. |
- Hill, Wendy, et al.
(författare)
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Functional Outcomes in the WHO-ICF Model : Establishment of the Upper Limb Prosthetic Outcome Measures Group
- 2009
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Ingår i: Journal of prosthetics and orthotics. - : Lippincott Williams & Wilkins. - 1040-8800 .- 1534-6331. ; 21:2, s. 115-119
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Tidskriftsartikel (refereegranskat)abstract
- A need for a systematic measurement of function for upper limb prosthetics has been identified. Using the World Health Organization-International Classification of Functioning, Disability and Health (WHO-ICF) model, it was clear that no single test was able to cover the entire cycle of prosthetic use from research to application in the field, but it was believed that a unified approach throughout the profession would allow better communication between the contributors to this process. Through a series of meetings, such an approach has been formulated and a special interest group formed that aims to analyze the current literature on the subject, and identify which tools already in existence have the psychometric properties that allow for valid comparison of data between centers and countries. After this analysis, recommendations for a toolkit of different validated tools will be made, along with identifying any gaps within the kit that need additional attention.
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| 8. |
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| 9. |
- Hill, Wendy, et al.
(författare)
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Treatment for children with upper limb differences in various parts of the world : Preliminary findings
- 2023
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Ingår i: Journal of prosthetics and orthotics. - : Lippincott Williams & Wilkins. - 1040-8800 .- 1534-6331. ; 35:3, s. 149-155
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Tidskriftsartikel (refereegranskat)abstract
- Introduction To support clinicians who treat children with upper-limb differences, we must first understand how these children are treated around the world.Study Design A descriptive survey was carried out in this study.Objectives The aim was to describe how treatment for children with upper-limb difference is provided in different parts of the world.Methods A web-based survey was used to gather data. The survey was shared on the Handsmart website, through providers and members using snowball sampling.Results Sixty-eight respondents from 18 countries, with most being occupational therapists and prosthetists, participated. All respondents reported that they provide prosthetic treatment and most fit a passive prosthesis before 1 year of age.Respondents from 13 countries reported having governmental funding for the provision of care for people with upper-limb loss. Intervention is guided by the presentation of the limb as well as availability of funding and other resources. In 12 countries, no treatment other than fitting of prostheses is provided for the children. The children who do not receive a prosthesis continue to see an occupational or physical therapist for other treatment (other devices, follow-up). Respondents stated that they would like to see clear treatment guidelines used by multidisciplinary teams to fit children and that treatment should include regular follow-up.Conclusions Children are treated differently in various parts of the world based on different funding, family support, and therapy resources. Further studies should encompass a geographically representative sample of children’s clinics.Clinical Relevance This study provides information regarding treatment practices for children with upper-limb loss/difference in various parts of the world; prosthetic treatment is common for children, although ages for fitting vary among clinics and countries. Results will contribute by supporting clinicians to provide better treatment for children with upper-limb loss/difference.
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| 10. |
- Hill, Wendy, et al.
(författare)
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Upper Limb Prosthetic Outcome Measures (ULPOM) : A Working Group and Their Findings
- 2009
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Ingår i: Journal of prosthetics and orthotics. - Washington DC, United States : American Academy of Orthotists & Prosthetists. - 1040-8800 .- 1534-6331. ; 21:4S, s. P69-P82
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Tidskriftsartikel (refereegranskat)abstract
- Rapid improvements in materials, design, and treatment in upper limb prosthetics makes assessment an important area. After meetings at international conferences and workshops, a special interest group of professionals concerned with the provision of upper limb prostheses was formed to create a systematic approach to measurement of function for upper limb prostheses. They used the World Health Organization's International Classification of Functioning, Disability and Health (ICF) model to identify a series of tests that could cover the cycle of prosthetic use from research to application in the field. It is suggested that a unified approach throughout the profession would allow better communication between the respective groups. The group analyzed literature on the subject and identified which existing tools have the psychometric properties that allow for valid comparison of data between practitioners. The group proposes that a toolkit of different validated measures has been identified, along with gaps within the kit that need additional attention.
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