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.     

The role of endoscopic ultrasound for portal hypertension in liver cirrhosis

Journal of Medical Ultrasonics - Chronic liver disease is still a major problem because disease progression will ultimately lead to liver cirrhosis. Portal hypertension is the hallmark in advanced...     

Biomechanical comparison of stemless humeral components in total shoulder arthroplasty

BackgroundThe purpose of this study was to compare initial fixation strength between various stemless and stemmed humeral components and to correlate implant fixation strength with bone mineral density (BMD).MethodsFive humeral stem designs were investigated: Stemless-A (four hollow fins), Stemless-B (central body, three solid fins), Stemless-C (central screw, peripheral rim-fit), Short stem (50 mm), and Standard stem (130 mm). Fifty cadaveric human humerii were obtained and divided into five groups. BMD within the humeral head was determined for all samples. The mean BMD was similar between groups. The 25 samples with the lowest and highest BMDs were categorized as “Low” and “High,” respectively, with a BMD threshold of 0.35 g/cm², creating BMD subgroups. After implantation, each sample underwent a standardized biomechanical testing protocol, with axial loading followed by torsional loading. Sensors attached to the specimen recorded micromotion throughout testing. Axial loading consisted of cyclic loading for 100 cycles at 3 peak forces (220, 520, and 820 N). Torsional loading consisted of 100 cycles of internal/external rotation at 0.1 Hz at 6 peak torques, or until failure (±2.5, 5, 7.5, 10, 12.5, and 15 Nm). Failure was defined as the torque at which any bone fracture, implant detachment from anchor/stem, or an excess of 50° internal/external rotation occurred. Groups and BMD subgroups were compared.ResultsAt maximal axial loading, Stemless-B demonstrated greater micromotion (540 μm) than Stemless-C (192 μm) (P = .003). Stemless-B and Stemless-A (387 μm) also had greater micromotion than Short stem (118 μm, P < .001, P = .03) and Standard stem (85 μm, P < .001, P = .01). When comparing low-BMD samples at maximal axial loading, these differences were accentuated, but comparison of high-BMD samples showed no significant differences between groups. Torsional testing demonstrated that Standard stem failed at greater torque (7.2 Nm) than Stemless-B (2.3 Nm, P < .001), Stemless-A (1.9 Nm, P < .001), and Stemless-C (3.9 Nm, P = .01). When comparing torsional testing results of low-BMD samples, both Standard stem and Short stem failed at greater torque than Stemless-B (P = .02, P = .003) and Stemless-A (P = .03, P = .004) but failed at a similar torque to Stemless-C. Torsional testing of high-BMD samples showed that Standard stem failed at a greater torque than all stemless designs.ConclusionStemless humeral implants should be used with caution in low-BMD settings (<0.35 g/cm²). A central screw and peripheral rim-fit stemless anchor design demonstrated greater fixation strength at low BMD when compared with other designs, while all stemless designs performed similarly at high BMD.Level of evidenceBasic Science Study; Cadaveric Study     

Two-year results after combined phacoemulsification and iris-fixated phakic intraocular lens removal

Graefe's Archive for Clinical and Experimental Ophthalmology - To describe and present results after a technique for cataract surgery combined with explantation of an iris-fixated phakic...