| 1. |
- Palmer, Nicholette D, et al.
(författare)
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A genome-wide association search for type 2 diabetes genes in African Americans.
- 2012
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Ingår i: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
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Tidskriftsartikel (refereegranskat)abstract
- African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
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| 2. |
- Richards, Stephen, et al.
(författare)
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Genome Sequence of the Pea Aphid Acyrthosiphon pisum
- 2010
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Ingår i: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 8:2, s. e1000313-
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Tidskriftsartikel (refereegranskat)abstract
- Aphids are important agricultural pests and also biological models for studies of insect-plant interactions, symbiosis, virus vectoring, and the developmental causes of extreme phenotypic plasticity. Here we present the 464 Mb draft genome assembly of the pea aphid Acyrthosiphon pisum. This first published whole genome sequence of a basal hemimetabolous insect provides an outgroup to the multiple published genomes of holometabolous insects. Pea aphids are host-plant specialists, they can reproduce both sexually and asexually, and they have coevolved with an obligate bacterial symbiont. Here we highlight findings from whole genome analysis that may be related to these unusual biological features. These findings include discovery of extensive gene duplication in more than 2000 gene families as well as loss of evolutionarily conserved genes. Gene family expansions relative to other published genomes include genes involved in chromatin modification, miRNA synthesis, and sugar transport. Gene losses include genes central to the IMD immune pathway, selenoprotein utilization, purine salvage, and the entire urea cycle. The pea aphid genome reveals that only a limited number of genes have been acquired from bacteria; thus the reduced gene count of Buchnera does not reflect gene transfer to the host genome. The inventory of metabolic genes in the pea aphid genome suggests that there is extensive metabolite exchange between the aphid and Buchnera, including sharing of amino acid biosynthesis between the aphid and Buchnera. The pea aphid genome provides a foundation for post-genomic studies of fundamental biological questions and applied agricultural problems.
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| 3. |
- Scott, J. K., et al.
(författare)
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Centralization of services for children born with orofacial clefts in the United kingdom : a cross-sectional survey
- 2014
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Ingår i: Cleft Palate Craniofac J. - 1545-1569 (Electronic) 1055-6656 (Linking) ; 51:5, s. e102-9
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Tidskriftsartikel (refereegranskat)abstract
- Objective : To examine current provision of cleft lip and/or palate services in the U.K. and compliance with recommendations made by the Clinical Standards Advisory Group (CSAG) in 1998. Design : Cross-sectional questionnaire survey. Setting : All 11 services within the U.K. providing care for children born with a cleft lip and palate. Participants : Members from each healthcare specialty in each U.K. cleft team. Interventions : Self-administered postal questionnaires enquired about the provision of cleft services. Data were collected about the overall cleft service, team coordination, hearing, orthodontics, pediatric dentistry, primary cleft surgery, psychology, restorative dentistry, secondary surgery, specialist cleft nursing, and speech and language therapy. Results : Questionnaires were returned from members of 130/150 cleft teams (87%) and these showed that U.K. cleft services have been restructured to 11 centralized services with 17 primary operative sites and 61 peripheral sites. All services provide care through a multidisciplinary (MDT) model, but the composition of each team varies. Primary cleft surgery and orthodontics were the only specialties that were represented in all cleft teams. Specialties may be represented in a team but their attendance at MDT clinics is variable. Only one team met all of the CSAG recommendations. Conclusions : Our survey shows that cleft services have centralized over the last 10 years, and an MDT model of care has been adopted. Further research is needed to show how this has influenced outcomes and to see whether some models of centralized care are associated with better outcomes.
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| 4. |
- Whitehouse, Sandy R., et al.
(författare)
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Co-creation with TickiT : Designing and evaluating a clinical eHealth platform for youth
- 2013
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Ingår i: JMIR Research Protocols. - : JMIR Publications. - 1929-0748. ; 2:2
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Tidskriftsartikel (refereegranskat)abstract
- Background: All youth are susceptible to mental health issues and engaging in risky behavior, and for youth with chronic health conditions, the consequences can be more significant than in their healthy peers. Standardized paper-based questionnaires are recommended by the American Academy of Pediatrics in community practice to screen for health risks. In hospitals, psychosocial screening is traditionally undertaken using the Home Education, Eating, Activities, Drugs, Depression, Sex, Safety (HEEADDSS) interview. However, time constraints and patient/provider discomfort reduce implementation. We report findings from an eHealth initiative undertaken to improve uptake of psychosocial screening among youth.Objective: Youth are sophisticated "technology natives." Our objective was to leverage youth's comfort with technology, creating a youth-friendly interactive mobile eHealth psychosocial screening tool, TickiT. Patients enter data into the mobile application prior to a clinician visit. Response data is recorded in a report, which generates alerts for clinicians, shifting the clinical focus from collecting information to focused management. Design goals included improving the patient experience, improving efficiency through electronic patient based data entry, and supporting the collection of aggregated data for research.Methods: This paper describes the iterative design and evaluation processes undertaken to develop TickiT including co-creation processes, and a pilot study utilizing mixed qualitative and quantitative methods. A collaborative industry/academic partnership engaged stakeholders (youth, health care providers, and administrators) in the co-creation development process. An independent descriptive study conducted in 2 Canadian pediatric teaching hospitals evaluated the feasibility of the platform in both inpatient and ambulatory clinical settings, evaluating both providers and patient responses to the platform.Results: The independent pilot feasibility study included 80 adolescents, 12-18 years, and 38 medical staff-residents, inpatient and outpatient pediatricians, and surgeons. Youth uptake was 99% (79/80), and survey completion 99% (78/79; 90 questions). Youth found it easy to understand (92%, 72/78), easy to use (92%, 72/78), and efficient (80%, 63/79 with completion rate < 10 minutes). Residents were most positive about the application and surgeons were least positive. All inpatient providers obtained new patient information.Conclusions: Co-creative design methodology with stakeholders was effective for informing design and development processes to leverage effective eHealth opportunities. Continuing stakeholder engagement has further fostered platform development. The platform has the potential to meet IHI Triple Aim goals. Clinical adaptation requires planning, training, and support for health care providers to adjust their practices.
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