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1.
Nat Genet ; 35(3): 258-63, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14566338

RESUMO

Asthma is a common disease in children and young adults. Four separate reports have linked asthma and related phenotypes to an ill-defined interval between 2q14 and 2q32 (refs. 1-4), and two mouse genome screens have linked bronchial hyper-responsiveness to the region homologous to 2q14 (refs. 5,6). We found and replicated association between asthma and the D2S308 microsatellite, 800 kb distal to the IL1 cluster on 2q14. We sequenced the surrounding region and constructed a comprehensive, high-density, single-nucleotide polymorphism (SNP) linkage disequilibrium (LD) map. SNP association was limited to the initial exons of a solitary gene of 3.6 kb (DPP10), which extends over 1 Mb of genomic DNA. DPP10 encodes a homolog of dipeptidyl peptidases (DPPs) that cleave terminal dipeptides from cytokines and chemokines, and it presents a potential new target for asthma therapy.


Assuntos
Asma/genética , Cromossomos Humanos Par 2 , Sequência de Aminoácidos , Clonagem Molecular , Genótipo , Humanos , Repetições de Microssatélites/genética , Homologia de Sequência de Aminoácidos
2.
BMJ Open ; 10(2): e034269, 2020 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-32075839

RESUMO

OBJECTIVES: To evaluate patient follow-up and complexity in cancer clinical trial delivery, using consensus methods to: (1) identify research professionals' priorities, (2) understand localised challenges, (3) define study complexity and workloads supporting the development of a trial rating and complexity assessment tool (TRACAT). DESIGN: A classic eDelphi completed in three rounds, conducted as the launch study to a multiphase national project (evaluating follow-up and complexity in cancer clinical trials). SETTING: Multicentre online survey involving professionals at National Health Service secondary care hospital sites in Scotland and England varied in scale, geographical location and patient populations. PARTICIPANTS: Principal investigators at 13 hospitals across nine clinical research networks recruited 33 participants using pre-defined eligibility criteria to form a multidisciplinary panel. MAIN OUTCOME MEASURES: Statements achieving a consensus level of 70% on a 7-point Likert-type scale and ranked trial rating indicators (TRIs) developed by research professionals. RESULTS: The panel developed 75 consensus statements illustrating factors contributing to complexity, follow-up intensity and operational performance in trial delivery, and specified 14 ranked TRIs. Seven open questions in the first qualitative round generated 531 individual statements. Iterative survey rounds returned rates of 82%, 82% and 93%. CONCLUSIONS: Clinical trials operate within a dynamic, complex healthcare and innovation system where rapid scientific advances present opportunities and challenges for delivery organisations and professionals. Panellists highlighted cultural and organisational factors limiting the profession's potential to support growing trial complexity and patient follow-up. Enhanced communication, interoperability, funding and capacity have emerged as key priorities. Future operational models should test dialectic Singerian-based approaches respecting open dialogue and shared values. Research capacity building should prioritise innovative, collaborative approaches embedding validated review and evaluation models to understand changing operational needs and challenges. TRACAT provides a mechanism for continual knowledge assimilation to improve decision-making.


Assuntos
Ensaios Clínicos como Assunto , Neoplasias , Medicina Estatal , Adulto , Técnica Delphi , Inglaterra , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/terapia , Escócia , Inquéritos e Questionários
3.
Appl Ergon ; 65: 240-254, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28802445

RESUMO

We present an application of engineering and ergonomics principles in the design of a standardised tool, The Dibber, which is a tool with multiple geometric features to fit the diversity of lay-up tasks used in the composites industry. The Dibber is the result of a design process, which consists of a series of observations and prototyping to extract geometric requirements for lay-up tasks. To demonstrate that it is possible to design a standardised tool prototypes of the Dibber were distributed and 91 participants gave feedback. Our results are positive and show consistent patterns of use across industry sectors, as well as between novice and expert laminators.


Assuntos
Desenho de Equipamento/normas , Ergonomia/métodos , Indústria Manufatureira/instrumentação , Análise e Desempenho de Tarefas , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
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