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1.
Karl Johnson Katherine W. Saylor Isabella Guynn Karen Hicklin Jonathan S. Berg Kristen Hassmiller Lich 《Genetics in medicine》2022,24(2):262-288
PurposeUnderstanding the value of genetic screening and testing for monogenic disorders requires high-quality, methodologically robust economic evaluations. This systematic review sought to assess the methodological quality among such studies and examined opportunities for improvement.MethodsWe searched PubMed, Cochrane, Embase, and Web of Science for economic evaluations of genetic screening/testing (2013-2019). Methodological rigor and adherence to best practices were systematically assessed using the British Medical Journal checklist.ResultsAcross the 47 identified studies, there were substantial variations in modeling approaches, reporting detail, and sophistication. Models ranged from simple decision trees to individual-level microsimulations that compared between 2 and >20 alternative interventions. Many studies failed to report sufficient detail to enable replication or did not justify modeling assumptions, especially for costing methods and utility values. Meta-analyses, systematic reviews, or calibration were rarely used to derive parameter estimates. Nearly all studies conducted some sensitivity analysis, and more sophisticated studies implemented probabilistic sensitivity/uncertainty analysis, threshold analysis, and value of information analysis.ConclusionWe describe a heterogeneous body of work and present recommendations and exemplar studies across the methodological domains of (1) perspective, scope, and parameter selection; (2) use of uncertainty/sensitivity analyses; and (3) reporting transparency for improvement in the economic evaluation of genetic screening/testing. 相似文献
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James I. Geller MD Joseph G. Pressey MD Malcolm A. Smith MD Rachel A. Kudgus PhD Mariana Cajaiba MD Joel M. Reid PhD David Hall PhD Donald A. Barkauskas PhD Stephen D. Voss MD Steve Y. Cho MD Stacey L. Berg MD Jeffrey S. Dome MD PhD Elizabeth Fox MD Brenda J. Weigel MD 《Cancer》2020,126(24):5303-5310
7.
Timothee Dub Bolette Sborg Peter Henrik Andersen Thorolfur Gudnason Hanne Nkleby Ann Lindstrand Rose-Marie Carlsson Hanna Nohynek 《Euro surveillance : bulletin européen sur les maladies transmissibles = European communicable disease bulletin》2021,26(4)
Healthcare workers (HCWs) are at increased risk of both exposure and transmission of infectious disease. Two European Union (EU) directives state that health services are responsible for assessing their employees’ potential exposure to infectious diseases and offering immunisation free of charge. We assessed current policy for immunisation of HCWs and the availability of vaccine coverage data in the Nordic countries by surveying national vaccination experts in Denmark, Finland, Iceland, Norway and Sweden, as well as Swedish county medical officers (CMOs). All national experts and 17 of 21 Swedish CMOs responded. All EU countries had transposed the European directives into national law, while Norway and Iceland had similar national legislation. Recommendations or guidelines were issued in Denmark, Finland, Iceland, Norway and 15 of 17 responding Swedish counties. The range of diseases covered differed by countries and Swedish counties. HCW vaccine coverage data were not systematically collected; incomplete estimates were only available for Finland and two Swedish counties. In conclusion, recommendations or guidelines exist in the Nordic countries, but their impact cannot be assessed, as vaccine uptake among HCWs is not currently measured. Systematic collection of data is a necessary step towards improving HCW immunisation policy and practice in the Nordic countries. 相似文献
8.
C Berg F Bender M Soukup A Geipel R Axt-Fliedner J Breuer U Herberg U Gembruch 《Ultrasound in obstetrics & gynecology》2006,28(7):882-889
OBJECTIVE: To evaluate the prenatal distribution, associated conditions and outcome of the different types of right aortic arch (RAA) detected in fetal life. METHODS: This was a retrospective review of all cases of RAA detected prenatally between 1998 and 2005 in two tertiary referral centers. RESULTS: In the study period 71 cases of RAA were detected; 26 (37%) had RAA with aberrant left subclavian artery, 23 (32%) had RAA with mirror-image branching, 20 (28%) had RAA of unknown type and two (3%) had double aortic arch. While 20/26 cases with RAA and aberrant left subclavian artery were isolated findings, all 23 cases with RAA and mirror-image branching were associated with cardiac defects, namely tetralogy of Fallot (43%) or pulmonary atresia with ventricular septal defect (22%). Of the 20 cases with RAA, 19 of unknown type were associated with heterotaxy syndromes and had additional cardiac malformations and ambiguities of the situs. The two cases with DAA were isolated findings. Seven cases in our series (10%) had a microdeletion 22q11 and these were significantly associated with extracardiac malformations. The outcome in our series depended solely on the associated cardiac and extracardiac malformations, with the exception of one infant with isolated DAA, in whom a surgical correction was warranted. CONCLUSIONS: RAA detected in fetal life is associated frequently with other cardiac/non-cardiac malformations, heterotaxy syndromes and microdeletions 22q11. The associated conditions vary depending on the branching type of the brachiocephalic vessels and the presence of extracardiac malformations. 相似文献
9.
Poor results after surgery for bronchioloalveolar carcinoma. 总被引:2,自引:0,他引:2
R A M Damhuis P R Schütte O C M Varin P M van den Berg R Heinhuis P W Plaisier 《European journal of surgical oncology》2006,32(5):573-576
BACKGROUND: Bronchioloalveolar carcinoma (BAC) is suggested to be less aggressive than other types of lung cancer. To assess the option of treatment modification, actual outcome data were studied and compared with results for other types of lung cancer. METHOD: Retrospective analysis of all consecutive patients who underwent resection for stage I lung cancer in our hospital. For 18 BAC cases, histological specimens were re-evaluated and in three cases diagnosis was revised. RESULTS: In the period 1989 through 2000, 15 patients with BAC and 260 patients with other tumour types underwent surgery in our hospital. Five-year survival rates were 24 and 53%, respectively, (p = 0.01). CONCLUSIONS: Given the poor results after standard surgery, parenchyma-sparing operations do not seem justified in patients with invasive BAC. 相似文献
10.
J R Andersen G Lose M N?rgaard H Stimpel J T Andersen 《British journal of urology》1988,61(4):310-313
In a randomised, double-blind study, 20 women with idiopathic detrusor instability and associated symptoms were treated with terodiline 25 mg bd, placebo, and emepronium bromide 200 mg tds--each drug being given for 3 weeks with placebo as wash-out period before cross-over. The results were evaluated according to drug preference, frequency charts and elimination of detrusor instability on cystometry. Serum levels of both drugs were monitored as control of tablet intake. The preference for terodiline to placebo was statistically significant: 14/3 women (P less than 0.05), and the majority of women (12/4) preferred terodiline to emepronium. Terodiline also gave a small but significant reduction in 24 h micturition frequency and eliminated detrusor instability in almost 50% of the patients (P less than 0.05). Side effects were frequent but mild in all three treatment periods. It was concluded that terodiline offers an alternative in the treatment of female detrusor instability. 相似文献