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- Erzurumluoglu, A. Mesut, et al.
(author)
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Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
- 2020
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In: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:10, s. 2392-2409
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Journal article (peer-reviewed)abstract
- Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). In a subset of 112,811 participants, a further one million SNVs were also genotyped and tested for association with the four smoking behaviour traits. SNV-trait associations with P < 5 × 10-8 in either analysis were taken forward for replication in up to 275,596 independent participants from UK Biobank. Lastly, a meta-analysis of the discovery and replication studies was performed. Sixteen SNVs were associated with at least one of the smoking behaviour traits (P < 5 × 10-8) in the discovery samples. Ten novel SNVs, including rs12616219 near TMEM182, were followed-up and five of them (rs462779 in REV3L, rs12780116 in CNNM2, rs1190736 in GPR101, rs11539157 in PJA1, and rs12616219 near TMEM182) replicated at a Bonferroni significance threshold (P < 4.5 × 10-3) with consistent direction of effect. A further 35 SNVs were associated with smoking behaviour traits in the discovery plus replication meta-analysis (up to 622,409 participants) including a rare SNV, rs150493199, in CCDC141 and two low-frequency SNVs in CEP350 and HDGFRP2. Functional follow-up implied that decreased expression of REV3L may lower the probability of smoking initiation. The novel loci will facilitate understanding the genetic aetiology of smoking behaviour and may lead to the identification of potential drug targets for smoking prevention and/or cessation.
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- Baumbach, Linda, et al.
(author)
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Association between received treatment elements and satisfaction with care for patients with knee osteoarthritis seen in general practice in Denmark
- 2021
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In: Scandinavian Journal of Primary Health Care. - : Taylor & Francis. - 0281-3432 .- 1502-7724. ; 39:2, s. 257-264
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Journal article (peer-reviewed)abstract
- Objective: While education, exercise, and weight reduction when indicated, are recommended first-line treatments for knee osteoarthritis patients, they remain poorly implemented in favour of pain killer treatment, imaging and referral to surgery. A reason could be that patients are more satisfied with receiving these adjunctive treatment elements. This study aimed to investigate the associations between the received elements of care and the patient's satisfaction with the care for knee osteoarthritis in general practice.Design: Cross-sectional study.Setting: A Danish general practice.Subjects: All consecutive patients >= 30 years of age who consulted the general practitioner (GP) with chronic knee complaints during 18 months and who replied to a mailed questionnaire (n = 136).Main outcome measures: The questionnaire addressed patient's knee-related quality of life, and overall satisfaction with care, as well as reception of seven types of information, which are known quality indicators. Information on reception of adjunctive treatment elements was obtained from electronic medical records.Results: Patient satisfaction (versus neutrality/dissatisfaction) was positively associated with reception of information on: physical activity and exercise (relative risks [RR] 1.38, 95% bootstrap percentile interval [BPI] 1.02-4.33), and the relationship between weight and osteoarthritis (1.38, 1.01-4.41). No significant associations were found for the five remaining types of information and all the adjunctive treatment elements.Conclusion: Providing information as education to patients with knee osteoarthritis as part of the treatment is positively associated with satisfaction with care.
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- Baumbach, Linda, et al.
(author)
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Changes in received quality of care for knee osteoarthritis after a multicomponent intervention in a general practice in Denmark
- 2021
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In: Health Science Reports. - : John Wiley & Sons. - 2398-8835. ; 4:4
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Journal article (peer-reviewed)abstract
- Objective: First-line treatment for patients with knee osteoarthritis should ideally prescribe patient education, exercise, and if needed, weight loss. In practice, however, adjunctive treatments, including painkillers and referrals to specialists, are typically introduced before these measures. This study evaluated interventions to sustainably improve general practitioner delivered care for patients with knee osteoarthritis.Design: Comparison of impacts of knee osteoarthritis care during four half-year periods: before, 6, 12, and 18 months after primary intervention based on electronic medical records (EMR) and patient questionnaires.Setting: Danish general practitioners (GPs) treating 6240 patients.Participants: Four GPs, two GP trainees, and six staff members.Interventions: Six pre-planned primary interventions: patient leaflet, GP and staff educational session, knee osteoarthritis consultation, two functional tests monitoring patient function, EMR phrase aiding consultation, and waiting room advertisement and three supportive follow-up interventions.Main outcome measures: Usage of first-line and adjunctive treatment elements, the functional tests, and the EMR phrase.Results: Approximately 50 knee osteoarthritis cases participated in each of the four half-year periods. Primary interventions had only transient effects lasting <12 months on the knee osteoarthritis care. Functional tests and EMR phrases were used predominantly during the first 6 months, where a transient drop in the referral rate to orthopedics was observed. Use of educational elements was moderate and without significant change during follow-up.Conclusion: More routine use of the primary or inclusion of novel increased-adherence interventions is needed to sustainably improve care for knee osteoarthritis patients in Danish general practice.
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