我国眼视光学近五年十大研究进展

中华医学会眼科学分会眼视光学组通过学组委员投票的方式遴选出代表我国近5年(2009至2013年)眼视光学临床和基础研究领域最突出的10项研究进展,主要集中于近视眼临床和基础研究、屈光手术和视觉质量研究、角膜接触镜的研发和临床应用、视觉认知和低视力康复研究的开展及临床推广、新型技术和检查设备的应用等5个方面.这些研究在一定程度上代表了目前我国眼视光学在国际同领域的水平和影响力,部分研究成为我国眼视光学者在国际学术领域的标志性成果.     

95例孤独症儿童血串联质谱检测的分析报告

目的应用串联质谱(tandem mass spectrometry,MS/MS)技术进行孤独症谱系障碍(autism spectrum disorder,ASD)儿童的遗传代谢病(inborn errors of metabolism,IEM)筛查,了解ASD患儿的高发IEM病种,并探讨IEM与儿童ASD之间的关系。方法利用MS/MS技术对2010年11月-2013年12月于复旦大学附属儿科医院儿童保健科门诊就诊、根据DSM-Ⅳ诊断标准确诊的95名ASD患儿的血液样本进行IEM筛查。结果 1名(1.95%)患儿存在苯丙酮尿症,1名(1.95%)患儿戊二酸血症-II型不能除外,其他患儿(96.1%)均不存在本研究所涉及的IEM。结论本研究为晚诊断的苯丙酮尿症与ASD之间的关联提供了案例支持,苯丙酮尿症可能是儿童ASD的共患病之一;戊二酸血症-II型与ASD之间可能存在一定联系。对于IEM高危患儿、特别是生后未行新生儿筛查的ASD患儿,及时地进行IEM筛查对于全面诊断和治疗ASD有着重要意义。     

临床药师开展药物重整服务在防范用药差错中的作用与实践

目的探讨临床药师开展药物重整服务在防范用药差错中的作用与实践。方法结合具体临床案例分析药物重整中发现的常见问题及其在防范用药差错中的作用。结果药物重整可减少发生药物遗漏或重复给药、用法用量不适宜、药物选择不适宜、停药不及时、血药浓度监测不连贯、药物相互作用等现象。结论药物重整服务在减少用药差错中具有重要作用,为临床药师参与临床提供了一种新的方式。     

Identification and external validation of the optimal FIB‐4 and APRI thresholds for ruling in chronic hepatitis B related liver fibrosis in tertiary care settings

BackgroundWith the initially defined thresholds, the most widely used serum biomarkers for staging liver fibrosis (ie, APRI and FIB‐4 scores) proved to be ineffective among patients with chronic hepatitis B virus infection (CHB). Whether optimizing the FIB‐4 and APRI thresholds could improve their diagnostic accuracy requires further research.MethodsUsing data of treat‐naïve CHB patients from three tertiary hospitals, we explored the optimal FIB‐4 and APRI thresholds to rule in liver fibrosis accurately. Subsequently, we validated the applicability of the newly defined thresholds to the CHB patients from another two tertiary hospitals.ResultsThe fibrosis stages between discovery cohort (n = 433) and the external validation cohort (n = 568) were statistically different (P < .001). When ruling in significant fibrosis and advanced fibrosis by the newly defined FIB‐4 thresholds (2.25 and 3.00, respectively), 24.0% and 14.3% of patients, respectively, could be classified with excellent accuracy (PPVs of 91.3% and 80.6%, respectively; misdiagnosis rates of 6.0% and 5.4%, respectively), supported by the internal and external validation tests. Regrettably, the more accurate and robust thresholds of APRI score for ruling in significant fibrosis and advanced fibrosis could not be found. Besides, the FIB‐4 and APRI scores should not be recommended for ruling in cirrhosis because of poor clinical diagnostic performance.ConclusionThe newly defined FIB‐4 thresholds for ruling in significant fibrosis and advanced fibrosis showed superior and reproducible clinical diagnostic accuracy. The well‐validated threshold (≥2.25) of FIB‐4 score could aid in antiviral treatment decisions for treat‐naïve adult CHB patients by accurately ruling in significant fibrosis in tertiary care settings.     

超声误诊甲状腺双侧叶不典型髓样癌1例

患者女,28岁,因“发现左颈部包块2个月”就诊,既往无特殊病史。查体:甲状腺左侧叶Ⅱ度肿大,右叶大小正常。实验室检查:降钙素>2000 pg/ml,癌胚抗原67.16 ng/ml。超声:甲状腺右叶上份见14 mm×12 mm×12 mm低回声结节(图1A),边界不清,形态不规则,纵横比>1,内部见微钙化,Adler血流分级1级(图1B),弹性成像质硬(图1C),超声造影表现为不均匀低增强(图1D);左叶40 mm×22 mm×27 mm囊实混合回声结节(图2A),边界清楚,形态规则,纵横比<1,Adler血流分级2级(图2B),弹性成像质软(图2C),超声造影不均匀等增强(图2D),双侧颈部淋巴结未见异常;考虑右侧甲状腺乳头状癌、左侧结节性甲状腺肿伴腺瘤样结节。     

Cell refractive index: Models,insights, applications and future perspectives

Cell refractive index (RI) is an intrinsic optical parameter that governs the propagation of light (i.e., scattering and absorption) in the cell matrix. The RI of cell is sensitively correlated with its mass distribution and thereby has the capability to provide important insights for diverse biological models. Herein, we review the cell refractive index and the fundamental models for measurement of cell RI, summarize the published RI data of cell and cell organelles and discuss the associated insights. Illustrative applications of cell RI in cell biology are also outlined. Finally, future research trends and applications of cell RI, including novel imaging techniques, reshaping flow cytometry and microfluidic platforms for single cell manipulation are discussed. The rapid technological advances in optical imaging integrated with microfluidic regime seems to enable deeper understanding of subcellular dynamics with high spatio-temporal resolution in real time.     

Next-generation sequencing for inborn errors of immunity

Inborn errors of immunity (IEIs) include several hundred gene defects affecting various components of the immune system. As with other constitutional disorders, next-generation sequencing (NGS) is a powerful tool for the diagnosis of these diseases. While NGS can provide molecular confirmation of disease in a patient with a suspected or classic phenotype, it can also identify new molecular defects of the immune system, expand gene-disease phenotypes, clarify mechanism of disease, pattern of inheritance or identify new gene-disease associations. Multiple clinical specialties are involved in the diagnosis and management of patients with IEI, and most have no formal genetic training or expertise. To effectively utilize NGS tools and data in clinical practice, it is relevant and pragmatic to obtain a modicum of knowledge about genetic terminology, the variety of platforms and tools available for high-throughput genomic analysis, the interpretation and implementation of such data in clinical practice. There is considerable variability not only in the technologies and analytical tools used for NGS but in the bioinformatics approach to variant identification and interpretation. The ability to provide a molecular basis for disease has the potential to alter therapeutic management and longer-term treatment of the disease, including developing personalized approaches with molecularly targeted therapies. This review is intended for the clinical specialist or diagnostic immunologist who works in the area of inborn errors of immunity, and provides an overview of the need for genetic testing in these patients (the “why” aspect), the various technologies and analytical approaches, bioinformatics tools, resources, and challenges (the “how” aspect), and the clinical evidence for identifying which patients might be best served by such testing (the “when” aspect).     

胰腺癌患者螺旋断层放疗摆位误差分析

目的：通过兆伏级CT（MVCT）在线测量校正胰腺癌患者螺旋断层放疗的摆位误差,确定临床靶区CTV和计划靶区PTV之间的外放距离。方法：2012年5月至12月,21例接受TomoTherapy治疗的胰腺癌患者,每次治疗前均行靶区部位MVCT扫描。并将扫描后的MVCT图像与定位时千伏级CT（kVCT）图像进行配准,分别记录患者左右x、头脚y、腹背z和横断面旋转Roll四个方向的偏差数值,对其误差值进行统计分析。结果：21例患者共行358次MVCT扫描,其摆位误差值在x、y、z和Roll方向分别为：（-0．14±0．60）mm、（-1．21±0．44）mm、（0．69±0．93）mm和（0．02±0．26）。x、y、z方向CTV和PTV之间的外放距离分别为：5．5mm、7．4mm和3．9mm。结论：胰腺癌患者治疗摆位误差较大,Tomotherapy通过在线摆位校正能有效减小摆位误差。临床上建议胰腺癌患者在x、y、z方向上CTV和PTV之间可分别外扩5mm、7mm和4mm,为精确照射提供必要的质量保证。