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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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Anaplastic thyroid carcinoma (ATC) is an aggressive thyroid malignancy with high mortality rate. This malignancy arises in thyroid follicular cells either denovo or with an associated differentiated thyroid carcinoma component. Clinically, it usually presents as a rapidly enlarging mass, pain and locally compressive symptoms. Histopathologic variability and heterogeneity often pose diagnostic challenges, especially in scant and paucicellular specimens. This article describes the clinical, histopathologic and molecular features of ATC and also addresses the associated diagnostic limitations and challenges.  相似文献   
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牙外伤是口腔急诊常见的病症之一,及时准确的牙髓活力判断是正确治疗以利维持美学与功能的重要前提条件。文章通过对牙髓活力的生物学基础、牙髓活力测验方法及评价、外伤牙髓受损类型和牙髓活力特点分析,在国际牙外伤临床治疗指南的方向指导下,结合案例和经验,概括外伤牙活力与实施临床治疗方案的关系,为提高牙外伤的临床诊治思维、科学精准和个性化治疗设计提供支持,具有重要的应用价值。  相似文献   
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PurposeIn 2018, The Journal of Vascular and Interventional Radiology (JVIR) updated its guidelines regarding periprocedural antibiotics. However, some institutions are slower to adopt these new guidelines. Additionally, antibiotic-resistant bacteria and sepsis are serious concerns due in part to incorrect usage of antibiotics. The purpose of this study is to assess institutional adherence to 2018 JVIR guidelines for the purpose of improving antibiotic stewardship.Materials and methodsA total of 800 cases over a 10-month time period were retrospectively identified and charted following the release of guidelines. Inclusion criteria for the study were adults aged 21 years or older undergoing mediport placement, tunneled central line (TCL) placement, nephrostomy tube exchange, percutaneous biliary drain, or cholecystostomy tube exchange. Exclusion criteria included immunocompromised and pregnant individuals as 2018 guidelines may not fit these patient populations. Guideline adherence for each procedure was recorded as a percentage; the timing of the antibiotic usage was also recorded and compared to the guidelines (within 60 minutes before incision).ResultsIn total, 49 mediport placements, 118 tunneled central line placements – 44 hemodialysis (HD) catheters and 74 nonhemodialysis (non-HD) catheters, 100 nephrostomy exchanges, and 82 biliary tube exchanges were included. Antibiotics were used in 83.6% (41/49) of mediport patients, 11.3% (5/44) of non-HD TCL patients, 20.5% (15/74) of HD TCL patients, 55% (55/100) nephrostomy tube changes, and 65.4% (55/84) of biliary or cholecystostomy tube exchanges. Out of those given prophylaxis, guideline-recommended antibiotics were used in 100% (41/41) of mediport, 100% (20/20) of TCL (both HD and non-HD catheters), 9% (5/55) of nephrostomy tube exchanges, and 1.8% (1/55) of biliary tube exchanges. Guideline-recommended timing was followed in 75.3% across all cases (ranging from 72.2% in mediports to 79.3% in biliary exchanges).ConclusionThis study of antibiotic practices at a single university-based academic institution revealed that antibiotic usage is not fully up to date with 2018 guidelines. For mediports, non-HD TCL placements, and nephrostomy tube exchanges, institutional changes should be made to reduce periprocedural antibiotic use, as antibiotics are no longer recommended for these procedures. For HD TCL and biliary exchanges, proper adherence to recommended prophylactic antibiotics should be followed. In addition, education about the correct antibiotic timing should be emphasized to increase compliance with guidelines.  相似文献   
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Among the chief limitations in achieving early detection and control of animal‐origin influenza of pandemic potential in high‐risk livestock populations is the existing lag time between sample collection and diagnostic result. Advances in molecular diagnostics are permitting deployment of affordable, rapid, highly sensitive, and specific point‐of‐capture assays, providing opportunities for targeted surveillance driving containment strategies with potentially compelling returns on investment. Interrupting disease transmission at source holds promise of disrupting cycles of animal‐origin influenza incursion to endemicity and limiting impact on animal production, food security, and public health. Adoption of new point‐of‐capture diagnostics should be undertaken in the context of promoting robust veterinary services systems and parallel support for operationalizing pre‐authorized plans and communication strategies that will ensure that the full potential of these new platforms is realized.  相似文献   
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Aims: In neuropsychological evaluations, it is often difficult to ascertain whether poor performance on measures of validity is due to poor effort or malingering, or whether there is genuine cognitive impairment. Dunham and Denney created an algorithm to assess this question using the Medical Symptom Validity Test (MSVT). We assessed the ability of their algorithm to detect poor validity versus probable impairment, and concordance of failure on the MSVT with other freestanding tests of performance validity.

Methods: Two previously published datasets (n?=?153 and n?=?641, respectively) from outpatient neuropsychological evaluations were used to test Dunham and Denney’s algorithm, and to assess concordance of failure rates with the Test of Memory Malingering and the forced choice measure of the California Verbal Learning Test, two commonly used performance validity tests.

Results: In both datasets, none of the four cutoff scores for failure on the MSVT (70%, 75%, 80%, or 85%) identified a poor validity group with proportionally aligned failure rates on other freestanding measures of performance validity. Additionally, the protocols with probable impairment did not differ from those with poor validity on cognitive measures.

Conclusions: Despite what appeared to be a promising approach to evaluating failure on the easy MSVT subtests when clinical data are unavailable (as recommended in the advanced interpretation program, or advanced interpretation [AI], of the MSVT), the current findings indicate the AI remains the gold standard for doing so. Future research should build on this effort to address shortcomings in measures of effort in neuropsychological evaluations.  相似文献   

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目的 按照国家计划抽验要求,评价国内不同企业生产的注射用盐酸柔红霉素的质量。方法 按国家标准检验与探索性研究相结合,对抽验样品进行检验,对检验结果进行统计分析。结果 共抽取样品17批次,按国家标准检验合格率100.0%。探索性研究对主要杂质的来源与结构进行了研究;建立溶液的澄清度检查方法;对包材相容性及稳定性进行了考察。结论 目前国内注射用盐酸柔红霉素总体质量较好;现行标准有待进一步提高,建议现行标准修订有关物质检查方法,增加特定杂质的控制,增加溶液的澄清度检查;建议企业优化生产工艺,以提高产品质量。  相似文献   
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