A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis

Until now, the study of the multiple endocrine neoplasia type 1 (MEN1) gene in patients suspected of having the disease was expensive and laborious due to the large size of the gene. We have optimized the conformation-sensitive gel electrophoresis (CSGE) technique to analyze by four rather simple multiplex PCR reactions, and a single electrophoresis run, the entire coding region of the MEN1 gene, plus the exon–intron boundaries. This improvement of the CSGE technique was confirmed as an effective procedure for screening for the MEN1 gene by detecting ten previously known MEN1 gene mutations and four polymorphisms. The MEN1 gene of 12 patients with unknown mutations was then screened, and an abnormal CSGE profile was identified in 10/12 cases. Subsequent DNA sequencing demonstrated 3 of them to be novel mutations (E45K, 4479delACAG, 6073insC) and 7 to have been previously reported; in the remaining 2 patients, we confirmed the absence of any alteration of the coding sequence of MEN1. Mutation screening of the MEN1 gene using CSGE was demonstrated to be a fast, simple, and inexpensive method to study patients suspected of having MEN1 disease. Received: November 29, 2001 / Accepted: January 28, 2002     

无脑回畸形儿1例报告并文献复习

目的探讨无脑回畸形的临床特征及其致病基因LIS1基因的检测特点。方法回顾性分析1例无脑回畸形患儿的临床、实验室检查及基因检测结果,同时复习相关文献。结果女性,5月龄,确诊癫痫20 d,3 d内再次抽搐发作30余次入院,抽搐发作表现为双眼凝视、上翻,口唇、面色发绀,口吐白沫,四肢强直,意识丧失,约2~3 min自行缓解。外周血白细胞计数13.67×109/L,血红蛋白108 g/L,红细胞计数3.90×1012/L,淋巴细胞10.26×109/L;心肌酶谱、肝肾功能均正常;血氨23μmol/L,乳酸2.11 mmol/L;长程视频脑电图显示高度失律,频繁部分性发作,有时继发全身阵挛发作。头部MRI提示无脑回畸形。口服左乙拉西坦片,约27 mg/(kg·d),托吡酯片约6.5 mg/(kg·d),目前暂无发作。患儿LIS1基因检测发现c.232del G杂合突变,导致蛋白移码突变(p.E78Nfs X25);患儿父母均未见突变。结论无脑回畸形患儿可合并癫痫,可能由LIS1基因突变所致,该基因c.232del G位点突变在国内外未见报道。     

米非司酮用于紧急避孕临床效果的调查研究

目的探讨米非司酮用于紧急避孕的临床效果。方法选取要求紧急避孕的育龄妇女379例口服米非司酮,观察紧急避孕有效率、不良反应的发生和单因素分析、阴道出血情况。结果米非司酮用于紧急避孕的有效率为79.02%,出现不良反应102例(26.9%),≤30岁和药物分服是不良反应的影响因素,出现阴道出血22例(5.8%)。结论米非司酮用于紧急避孕后仍有发生妊娠的可能并出现不良反应等情况,应做好服药后的随访和治疗工作。     

应用信息技术重组门诊流程

为了满足新形势下病人的合理需求,为病人提供人性化的医疗服务方式,以新医院启用为契机,我院通过信息技术打破原始流程,对门诊流程进行了重组.门诊从挂号、治疗、取药各个环节全面实行电子化,经过半年的运行,门诊工作效率和服务质量得到了明显提高,从根本上解决原始门诊流程的弊病,使患者真正成为受益者.     

COVID-19: A pluralistic and integrated approach for efficient management of the pandemic

The novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which triggered the ongoing pandemic, was first discovered in China in late 2019. SARS-CoV-2 is a respiratory virus responsible for coronavirus disease 2019 (COVID-19) that often manifests as a pneumonic syndrome. In the context of the pandemic, there are mixed views on the data provided by epidemiologists and the information collected by hospital clinicians about their patients. In addition, the literature reports a large proportion of patients free of pneumonia vs a small percentage of patients with severe pneumonia among confirmed COVID-19 cases. This raises the issue of the complexity of the work required to control or contain the pandemic. We believe that an integrative and pluralistic approach will help to put the analyses into perspective and reinforce collaboration and creativity in the fight against this major scourge. This paper proposes a comprehensive and integrative approach to COVID-19 research, prevention, control, and treatment to better address the pandemic. Thus, this literature review applies a pluralistic approach to fight the pandemic.     

LIS检验系统在临床应用中的优点

随着网络技术的飞速发展和普及，计算机技术和信息技术在医学领域的应用经历了三十多年的研究与发展，越来越多的计算机在医院得以广泛应用，这是医院实现科学化、现代化管理的必经之路。自从LIS（Laboratory Information System）检验系统在我院运行以来，深受广大护理人员的欢迎。利用LIS管理下的标本采集过程大大减少了护士的工作量，提高了工作质量，避免了各环节的人为差错，便于标本的管理，具有广阔的应用前景。     

LIS在门诊采血工作中的应用体会

随着HIS和LIS的日益普及和完善及条形码技术在检验医学中的日趋应用,LIS近几年在国内迅速发展起来。我院从2007年开始将"数字化"作为医院发展工作的重点,经过3年多的不懈努力,医院具备了网络运行环境,基本实现了无纸化。其中临     

Accurate spike sorting for multi‐unit recordings

Simultaneous recordings with multi‐channel electrodes are widely used for studying how multiple neurons are recruited for information processing. The recorded signals contain the spike events of a number of adjacent or distant neurons and must be sorted correctly into spike trains of individual neurons. Several mathematical methods have been proposed for spike sorting but the process is difficult in practice, as extracellularly recorded signals are corrupted by biological noise. Moreover, spike sorting is often time‐consuming, as it usually requires corrections by human operators. Methods are needed to obtain reliable spike clusters without heavy manual operation. Here, we introduce several methods of spike sorting and compare the accuracy and robustness of their performance by using publicized data of simultaneous extracellular and intracellular recordings of neuronal activity. The best and excellent performance was obtained when a newly proposed filter for spike detection was combined with the wavelet transform and variational Bayes for a finite mixture of Student’s t‐distributions, namely, robust variational Bayes. Wavelet transform extracts features that are characteristic of the detected spike waveforms and the robust variational Bayes categorizes the extracted features into clusters corresponding to spikes of the individual neurons. The use of Student’s t‐distributions makes this categorization robust against noisy data points. Some other new methods also exhibited reasonably good performance. We implemented all of the proposed methods in a C++ code named ‘EToS’ (Efficient Technology of Spike sorting), which is freely available on the Internet.     

HIS信息系统设计与应用

根据医院具体情况和未来发展方向，我们设计并且实现了符合本院实际需求的HIS信息系统，本系统在功能和性能上完全适合、满足医院的具体运行需要；同时考虑到信息化过程中出现的数据和信息安全问题，设计了防范和处理突发事件的应急方案，并且在实际应用中成功实施；从医院实际需求出发设计了护士工作站、LIS等系统模块，为医院下一步的数字化建设奠定了坚实基础。     

水提天麻工艺的初步研究

目的：探讨天麻有效部位的水提取、分离、纯化工艺.方法：利用生物酶技术,絮凝技术对提取液作前处理,大孔吸附树脂进行水提天麻有效部位的分离、纯化.结果：提取液上吸附柱前经生物酶催化、分解,絮凝剂沉淀处理,用改良型AB-8大孔吸附树脂（弱极性）吸附、分离、纯化,有效部位平均提取率3.489%,平均含量46.08%.