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.     

Enlarged high frequency oscillations of the median nerve somatosensory evoked potential and survival in amyotrophic lateral sclerosis

ObjectiveA large N20 and P25 of the median nerve somatosensory evoked potential (SEP) predicts short survival in amyotrophic lateral sclerosis (ALS). We investigated whether high frequency oscillations (HFOs) over N20 are enlarged and associated with survival in ALS.MethodsA total of 145 patients with ALS and 57 healthy subjects were studied. We recorded the median nerve SEP and measured the onset-to-peak amplitude of N20 (N20o-p), and peak-to-peak amplitude between N20 and P25 (N20p-P25p). We obtained early and late HFO potentials by filtering SEP between 500 and 1 kHz, and measured the peak-to-peak amplitude. We followed up patients until endpoints (death or tracheostomy) and analyzed the relationship between SEP or HFO amplitudes and survival using a Cox analysis.ResultsPatients showed larger N20o-p, N20p-P25p, and early and late HFO amplitudes than the control values. N20p-P25p was associated with survival periods (p = 0.0004), while early and late HFO amplitudes showed no significant association with survival (p = 0.4307, and p = 0.6858, respectively).ConclusionsThe HFO amplitude in ALS is increased, but does not predict survival.SignificanceThe enlarged HFOs in ALS might be a compensatory phenomenon to the hyperexcitability of the sensory cortex pyramidal neurons.     

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。     

温针灸对功能性便秘患者临床症状及焦虑抑郁的改善作用

目的:探讨温针灸对功能性便秘(FC)患者临床症状及焦虑抑郁的改善作用。方法:选取2017年1月至2017年12月中国中医科学院广安门医院南区收治的FC患者70例作为研究对象,随机分为观察组和对照组,每组35例。对照组采用常规针刺治疗,观察组采用温针灸治疗,比较治疗前后2组患者便秘临床症状积分、首次排便时间、中医证候评分、焦虑自评量表(SAS)、抑郁自评量表(SDS)评分。结果:观察组有效率96. 00%,对照组有效率68. 00%,差异有统计学意义(P0. 05)。治疗后2组患者的周排便次数、粪便性状积分和排便困难程度均改善,中医证候评分、SAS和SDS评分下降,较治疗前差异有统计学意义(P 0. 05)。治疗后,观察组患者的周排便次数、粪便性状积分高于对照组,中医证候评分、SDS和SAS评分、首次排便时间以及排便困难程度积分小于对照组,差异有统计学意义(P 0. 05)。结论:温针灸治疗能调节胃肠道运动、润湿肠道、显著改善便秘等临床症状,对FC患者有显著临床效果。     

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.     

Restless legs syndrome in children and adolescents with attention-deficit/hyperactivity disorder: prevalence,mimic conditions,risk factors,and association with functional impairment

ObjectivesTo determine the prevalence of restless legs syndrome (RLS) and RLS-mimic conditions, the risk factors for RLS, and whether RLS contributes to functional impairment in children and adolescents with attention-deficit/hyperactivity disorder (ADHD).MethodsADHD children and adolescents were prospectively studied at the outpatient psychiatric clinic. A trained registered nurse used the 2012 Revised International Restless Legs Syndrome Study Group diagnostic criteria to diagnose RLS. Sociodemographic data and medical records were reviewed. Weiss Functional Impairment Rating Scale-Parent Report (WFIRS-P) Thai version was used to identify association between RLS and 6 domains of function [family, school (learning), school (behavior), life skills, child self-concept, social activities, and risky activities].ResultsA total of 217 patients were included. Of those, 23 (11%) patients met the criteria for RLS, and 49 (23%) had RLS-mimic conditions. Those conditions included myalgia (30/49), habitual foot tapping (23/49), positional discomfort (20/49), leg ulcer/bruise (1/49), and arthralgia/arthritis (1/49). Binary logistic regression revealed first-degree relative having RLS symptom to be significantly associated with RLS in study patients (OR: 5.06, p < 0.01). Multivariate linear regression showed RLS to be independently associated with school (behavior) (Β = 1.18, p = 0.05) and life skills (Β = 2.36, p = 0.05) impairment.ConclusionsRLS was found to be common in ADHD children and adolescents. RLS-mimic conditions were found in two-thirds of patients who previously met 4 essential RLS criteria. First-degree relative with RLS symptom was associated with RLS, and RLS was associated with functional impairment in the life skills and school (behavior) domains.     

Functional balance assessment in recreational college-aged individuals with a concussion history

Objectives

Despite evidence for increased musculoskeletal injury after concussion recovery, there is a lack of dynamic balance assessments that could inform management and research into this increased injury risk post-concussion. Our purpose was to identify tandem gait dynamic balance deficits in recreational athletes with a concussion history within the past 18-months compared to matched controls.