A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders

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.     

Anaplastic thyroid carcinoma: diagnostic challenges,histopathologic features and ancillary testing

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.     

外伤牙活力判定的方法及意义

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。     

New frontiers in applied veterinary point‐of‐capture diagnostics: Toward early detection and control of zoonotic influenza

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.     

Ventilatory support in the intensive care unit

This article focuses on the functional features of positive-pressure ventilators, the modes of invasive and non-invasive mechanical ventilation, and the main ventilator settings. It also highlights the potential complications of mechanical ventilation, the basic principles of weaning, and the pathophysiological basis of patient-ventilator dyssynchrony.     

运动学对线应用于全膝关节置换术的研究进展

全膝关节置换术是目前治疗终末期膝关节骨性关节炎最有效的方法之一，全膝关节置换术后膝关节功能、术后膝关节疼痛与术后下肢力线有着密切的关系。目前膝关节置换术下肢对线方式主要采用机械力学对线方法，该方法可以改善膝关节功能，但是有部分患者也会产生术后膝关节的疼痛、活动受限等并发症，导致术后患者满意度较差。近些年越来越多的研究开始关注运动力学对线技术并应用于临床。运动学对线技术旨在重建患者的解剖结构，将膝关节假体运动轴与膝关节生理性运动轴保持一致，减少膝关节周围软组织和韧带的松解，实现膝关节生理性运动。该文就运动力学对线方法在全膝关节置换术中的应用进展作一综述。     

Differentiating poor validity from probable impairment on the medical symptom validity test: a cross-validation study

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.