Critical care management of patients with severe burns and inhalational injury

Anaesthetists and critical care physicians involved in emergency care provision must be equipped with the adequate knowledge and skills to accurately assess and manage patients with severe burns. This summary aims to review the key principles in managing patients with severe burns including airway management, fluid resuscitation, sedation, burn care, analgesia and nutrition.     

数字化外科在疑难甲状腺肿瘤手术中的应用

近10年来数字化外科在临床医学各方面均有广泛应用,推动了外科手术向个体化、精准化发展。通过三维可视化技术对传统影像资料进行深度分析并转化为实时图像,使外科医师能全方位地直观病灶范围及与周围组织器官的位置关系,在预测肿瘤的可切除性、制定手术方案、手术入路、提高手术成功率等方面发挥了重要作用。疑难甲状腺肿瘤手术涉及颈部、纵隔的重要血管、气管、食道等重要器官,手术风险及手术范围术前必须有效的评估。本文就数字化外科技术在疑难甲状腺肿瘤手术中的应用进行述评,结合疑难甲状腺手术的特点,分析应用数字化外科技术指导疑难甲状腺手术的优势。     

自体腘绳肌腱单束与双束重建前交叉韧带临床结果的Meta分析

目的 基于已发表的随机对照试验（randomized controlled trials, RCTs）,对关节镜下采用自体腘绳肌腱单束或双束重建前交叉韧带的整体疗效比较进行Meta分析。方法 计算机检索PubMed、Cochrane library、Springerlink数据库,收集自体腘绳肌键单束对比双束重建前交叉韧带的RCTs,检索时间及语种不限。两名研究人员按照指定的纳入标准及排除标准独立对文献进行筛选,提取有关数据资料,并采用Cochrane Collaboration工具表对文献质量进行评价。采用Revman 5.3软件进行Meta分析,比较两种重建方式术后国际膝关节评分委员会（International Knee Documentation Committee, IKDC）主观评分和客观评分、Lachman试验、轴移试验、Lysholm膝关节评分、Tegner膝关节评分、KT-1000或KT-2000关节活动度测量仪测量的数值,评价手术疗效。结果 纳入19篇RCTs,共1 190例研究对象,其中单束重建组580例,双束重建组610例。两组间在IKDC主观评分[MD=-0.90,95% CI（-3.07,1.27）,P=0.42]、IKDC客观评分[RR=0.98,95% CI（0.94,1.02）,P=0.38]、Lachman试验结果[RR=0.81,95% CI（0.63,1.05）,P=0.11]、Lysholm膝关节评分[MD=0.40,95% CI（-1.24,2.05）,P=0.63]、Tegner膝关节评分[MD=-0.08,95% CI（-0.47,0.33）,P=0.74]、KT-1000或KT-2000测量值[MD=0.30,95% CI（-0.05,0.64）,P=0.09]方面,差异均无统计学意义。轴移试验结果在两组间的差异具有统计学意义[RR=0.85,95% CI（0.74,0.97）,P=0.02]。结论 对于膝关节功能恢复和前直向稳定性,用自体腘绳肌腱单束或双束重建前交叉韧带的临床结果无明显差异;而对于恢复膝关节旋转稳定性,双束重建技术优于单束重建。     

中药Q0409筛选方改善SAM-P/8小鼠的学习记忆能力

目的:研究中药Q0409筛选方是否能够改善SAM-P/8小鼠的学习记忆能力及其初步机制。方法:4月龄SAM-P/8小鼠、SAM-R/1小鼠和昆明小鼠共91只,分别标记雌雄,根据动物在Morris水迷宫实验找到平台潜伏期的长短,按随机区组法分成5组,即正常对照组、SAM-R/1对照组、疾病模型组、中药Q0409筛选方治疗组和阳性药物(石杉碱甲)组,采用不同的药物或蒸馏水连续灌胃60 d(即从4月龄到6月龄)。第61~65天,先灌胃相应剂量药物或双蒸水,1 h后进行Morris水迷宫实验,观测行为学指标。在第65天,进行水迷宫测试结束后立即处死小鼠,取出脑海马组织,将其一半置玻璃匀浆器中加入预冷生理盐水制成10%(g/m L)匀浆,用于测定脑海马组织匀浆中乙酰胆碱酯酶(ACh E)的活性;将另一半海马组织用4%多聚甲醛固定,然后进行石蜡包埋及切片,进行免疫组化染色以观察β-淀粉样蛋白(Aβ)的表达情况。结果:与疾病模型组相比,中药Q0409治疗组小鼠Morris水迷宫实验中定位航行和空间探索实验的结果显著改善(P0.05),海马组织匀浆ACh E活性显著降低(P0.05);但上述指标与正常对照组和阳性药物组相比差异无统计学显著性。免疫组化观察结果显示,中药Q0409筛选方治疗组雄鼠未见典型的"老年斑",雌鼠可见"老年斑"颜色变浅,两者的海马CA1区Aβ蛋白沉积的阳性面积减少;这些结果与阳性药物组相似。结论:中药Q0409筛选方可有效改善SAM-P/8小鼠的学习和记忆能力,其机制可能与其抑制海马区ACh E活性并减少Aβ蛋白的沉积等有关,其效果与石杉碱甲相似。     

Inferring the effect of genomic variation in the new era of genomics

Accurate and detailed understanding of the effects of variants in the coding and noncoding regions of the genome is the next big challenge in the new genomic era of personalized medicine, especially to tackle newer findings of genetic and phenotypic heterogeneity of diseases. This is necessary to resolve the gene‐variant–disease relationship, the pathogenic variant spectrum of genes, pathogenic variants with variable clinical consequences, and multiloci diseases. In turn, this will facilitate patient recruitment for relevant clinical trials. In this review, we describe the trends in research at the intersection of basic and clinical genomics aiming to (a) overcome molecular diagnostic challenges and increase the clinical utility of next‐generation sequencing (NGS) platforms, (b) elucidate variants associated with disease, (c) determine overall genomic complexity including epistasis, complex inheritance patterns such as “synergistic heterozygosity,” digenic/multigenic inheritance, modifier effect, and rare variant load. We describe the newly emerging field of integrated functional genomics, in vivo or in vitro large‐scale functional approaches, statistical bioinformatics algorithms that support NGS genomics data to interpret variants for timely clinical diagnostics and disease management. Thus, facilitating the discovery of new therapeutic or biomarker options, and their roles in the future of personalized medicine.     

The past,present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine

Precision medicine aims to approach disease treatment and prevention with consideration of the variability in genes, environment, and lifestyle for each person. This focus on the individual is also key to the practice of genetic counseling, whereby foundational professional values prioritize informed and autonomous patient decisions regarding their genetic health. Genetic counselors are ideally suited to help realize the goals of the precision medicine. However, a limited genetic counseling workforce at a time in which there is a rapidly growing need for services is challenging the balance of supply and demand. This article provides historical context to better understand what has informed traditional models of genetic counseling and considers some of the current forces that require genetic counselors to adapt their practice. New service delivery models can improve access to genetic healthcare by overcoming geographical barriers, allowing genetic counselors to see a higher volume of patients and supporting other healthcare providers to better provide genetic services to meet the needs of their patients. Approaches to genetic counseling service delivery are considered with a forward focus to the challenges and opportunities that lie ahead for genetic counselors in this age of precision health.     

Genetic counselors as social and behavioral scientists in the era of precision medicine

In the era of precision medicine, translating genomics into clinical care will involve answering key questions in social and behavioral research. The scope of this research addresses assessing how clients perceive and use genomic information, and how effectively genetic counseling is meeting clients’ needs. Outcomes are central to enhancing practice effectiveness, improving patient outcomes, and informing cost effective services to address workforce challenges. While genetic counseling is generally thought of as a clinical practice, genetic counselors contribute to research in several ways. Counselors are actively involved in interpretation of sequence data, collaborate in clinical research teams, and serve as lead investigators. This commentary highlights genetic counselors as social and behavioral scientists and reviews evidence generated by genetic counselors, describes advanced training in research, and posits key social and behavioral research questions for genetic counseling in translating genomic science in the era of precision medicine.