症状前期进行性肌营养不良患儿24例病例系列报告

背景：进行性肌营养不良（PMD）中Duchenne型肌营养不良(DMD)和Becker型肌营养不良(BMD)的临床表现、治疗和预后差异明显，目前国内外对症状前期PMD患儿的诊断尚无共识。 目的：探讨婴幼儿时期症状前期PMD患儿的临床特征和实验室检查特点，并探讨血清肌酶水平在DMD和BMD分型诊断中的价值。 设计：病例系列报告。 方法：收集2016年1月至2020年7月江西省儿童医院确诊的症状前期PMD患儿，分析临床特征和实验室检查特点，并以基因检测结果为诊断标准分为DMD组和BMD组，血清肌酶通过ROC曲线分析以约登指数最大值时的取值作为诊断界值，比较不同肌酶的诊断准确性。 主要结局指标：PMD患儿的临床表现、基因结果、血清酶水平（AST、ALT、LTH、CK、CK-MB）。 结果：24例PMD患儿纳入分析，其中DMD组18例，BMD组6例。22例（91.7%）因发现转氨酶升高就诊，2例（8.3%）因亲戚确诊前来就医。PMD患儿CK-MB、CK、LDH、AST和ALT水平均明显升高，DMD组均高于BMD组（除AST外，P均<0.05）。当ALT>224.5 U·L-1、CK>11 069 IU·L-1、CK-Mb>204 IU·L-1、LDH>1 349.5 IU·L-1时为DMD的可能性更高，尤其是LDH>1 349.5 IU·L-1具有高度特异性。 结论：血清肌酶水平增高为 PMD 患儿症状前期的主要表现。LDH＞1 349.5 IU·L-1对诊断DMD具有高度特异性。     

Instrumented gait analysis for management of gait disorders in children with cerebral palsy: A scoping review

BackgroundThe use of Instrumented Gait Analysis (IGA) for the clinical management of individuals with cerebral palsy (CP) has increased in recent years. Previous systematic reviews have been completed to evaluate and summarize the evidence related to the efficacy of IGA in general. However, a focused summary of research studies on IGA for children with CP related gait disorders is needed.Research QuestionThe purpose of the current work was to perform a scoping review to describe and categorize the range of existing literature about IGA as applied to the clinical management of children with CP related gait disorders.MethodA health sciences librarian developed a search strategy to include four key inclusion criteria of original research study, population included children with CP, study employed IGA, available in English. The available literature was organized into six study categories: reliability and validity, documentation of subgroups or model development, IGA for clinical decision making, effectiveness of treatments that depend on IGA, cost effectiveness, IGA used to evaluate the outcome of surgical, medical or rehabilitation treatment.Results909 studies met the inclusion criteria and were placed into the six study categories. 14 % of studies were in reliability and validity, 33 % in subgroups or modeling, 2% in IGA for clinical decision making, 2% in treatments that depend on IGA, 1% in cost effectiveness, and 49 % of studies had IGA used as an outcome measure for treatment.SignificanceThis scoping review has documented the wide range, diversity and extent of original research studies investigating the use of IGA for the clinical management of children with CP related gait disorders. The large volume of studies provides a basis for future work to develop a CPG about the use of IGA for the clinical management of children with CP related gait disorders.     

An update on the contribution of hot-melt extrusion technology to novel drug delivery in the twenty-first century: part I

Introduction: Currently, hot melt extrusion (HME) is a promising technology in the pharmaceutical industry, as evidenced by its application to manufacture various FDA-approved commercial products in the market. HME is extensively researched for enhancing the solubility and bioavailability of poor water-soluble drugs, taste masking, and modifying release in drug delivery systems. Additionally, its other novel opportunities or pharmaceutical applications, and capability for continuous manufacturing are being investigated. This efficient, industrially scalable, solvent-free, continuous process can be easily automated and coupled with other novel platforms for continuous manufacturing of pharmaceutical products.

Areas covered: This review focuses on updates on solubility enhancement of poorly water-soluble drugs and process analytical tools such as UV/visible spectrophotometry; near-infrared spectroscopy; Raman spectroscopy; and rheometry for continuous manufacturing, with a special emphasis on fused deposition modeling 3D printing.

Expert opinion: The strengths, weakness, opportunities, threats (SWOT) and availability of commercial products confirmed wide HME applicability in pharmaceutical research. Increased interest in continuous manufacturing processes makes HME a promising strategy for this application. However, there is a need for extensive research using process analytical tools to establish HME as a dependable continuous manufacturing process.     

Current status and challenges of Additive manufacturing in orthopaedics: An overview

Additive manufacturing is a rapidly emerging technology which is being successfully implemented in the various field of medicine as well as in orthopaedics, where it has applications in reducing cartilage defects and treatments of bones. The technology helps through systematic collection of information about the shape of the "defects" and precise fabrication of complex 3D constructs such as cartilage, heart valve, trachea, myocardial bone tissue and blood vessels. In this paper, a large number of the relevant research papers on the additive manufacturing and its application in medical specifically orthopaedics are identified through Scopus had been studied using Bibliometric analysis and application analysis is undertaken. The bibliometric analysis shows that there is an increasing trend in the research reports on additive manufacturing applications in the field of orthopaedics. Discussions are on using technological advancement like scanning techniques and various challenges of the orthopaedic being met by additive manufacturing technology. For patient-specific orthopaedic applications, these techniques incorporate clinical practice and use for effective planning. 3D printed models printed by this technology are accepted for orthopaedic surgery such as revision of lumbar discectomy, pelvic surgery and large scapular osteochondroma. The applications of additive manufacturing in orthopaedics will experience a rapid translation in future. An orthopaedic surgeon can convert need/idea into a reality by using computer-aided design (CAD) software, analysis software to facilitate the manufacturing. Thus, AM provides a comprehensive opportunity to manufacture orthopaedic implantable medical devices.     

综述三维斑点追踪技术在糖尿病心肌病心功能评价中的应用

糖尿病心肌病(Diabetic Cardiomyopathy,DC)的进展会导致左心室功能减低,因此,早期正确评估左心室功能对糖尿病心肌病患者的治疗和预后有着重要的意义。由于左心室解剖结构的复杂性,常规超声技术通常很难准确的评估左心室功能的变化,三维斑点追踪技术(three-dimensional speckle tracking imaging,3D-STI)是在实时3D超声和斑点追踪技术(STI)基础上发展起来的一项新技术,其对心脏功能的评估不受整个心脏运动方向和运动幅度的限制,能够直观的对心肌各个方向的运动进行追踪。本文首先论述3D-STI 在左心室功能评价中的可行性,再对其在DC左心室功能评价中的研究展开综述。