德国通过法律允许对人类胚胎进行基因鉴定

经过一年来的激辩,德国国会7日以多数票通过决议,对“胚胎植入前遗传学诊断”授予法律许可。香遗传性疾病的德国夫妇从即日起可通过胚胎鉴定得到健康婴儿。     

预测性遗传检查——个性化医疗的重要基石

基因挑战医学，基因渗入医学 21世纪的基因组科学和基因组医学（genomic medicine）将给人类的医疗保健卫生事业带来革命性的变革。这场深层次的变革起始于基因组挑战医学——从基因水平上认识和研究疾病，受惠于基因渗入医学——从基因水平上诊断、预防和治疗疾病。目前在数千种疾病中，已克隆了已知多个致病基因，遗传医学不但早就被列为医学的25个专科之一，而且渗入到内科，     

我国干细胞研究获重大突破 遗传病可娘胎里治愈

血友病、神经肌肉缺陷、地中海贫血症，这些与生俱来的遗传性疾病给成千上万家庭带来无尽痛苦。然而，不久的将来，也许只要像打预防针一样，在妊娠早期注射一些造血干细胞，就有望在娘胎里将这些疾病治愈。     

生物技术与家畜的营养,疾病防治和品种改良

由于世界人口的增长,农业将不得不提供越来越多的食物,而生物技术能用许多手段提供改良农业的方法和产品。在动物农业中,生物技术在以下领域中是有希望的: ·通过使用单克隆抗体技术来诊断、预防和控制动物疾病,以便诊断、监察以及更好地了解疾病;同时由于使用重组DNA,从而扩充了疫苗和其它动物保健产品的种类(药类);     

招聘编辑

许多读者告诉我，自己是遗传性高血压，父亲或母亲就有高血压。他们怀疑喝小分子水不能根治的这种高血压，医学上称为原发性高血压，其发病原因虽然有遗传因素，但遗传基因只是发病的条件之一，而不是发病的主要原因。高血压发病的主要原因是长期膳食过多，超过发育生长、     

遗传性疾病先天性疾病和家族性疾病的区别

遗传病不但种类多，发病率也高，而且也传递给后代。我国人口基数大，患遗传病的人相应就多，在我国人口中，估计有20％—25％的人患有遗传病。但很多时候，人们都认为先天性疾病和家族性疾病，就是遗传性疾病。许多人往往把这三种疾病的病因和发病机理弄混。其实不然。     

横纹肌溶解综合征的并发症及其防治

横纹肌溶解综合征（Rhabdomyolysis,RM）是以年轻人多见的一种疾病,可由遗传性和获得性的多种原因引起。该疾病可引起多种并发症如：急性肾衰竭、电解质紊乱及代谢性酸中毒、筋膜室综合征及弥散性血管内凝血等,临床表现各异。虽然横纹肌溶解综合征的预后大体较好,但如果伴有较严重的并发症时其死亡率将大大升高。由于临床上该病相对少见,故笔者对RM的并发症及处理相关的文献进行综述,以期提高临床医生对本病的认识水平及处理能力。     

妙手仁心 杏林春暖——记上海交通大学医学院附属瑞金医院王鸿利教授

提起出血病．不由得让人心生恐怖：遗传性出血病．就更是让一代代人都毛骨悚然了。血友病是一种常见遗传性出血性疾病．它是由于血液中某些凝血因子的缺乏而导致的严重凝血功能障碍。根据缺乏的凝血因子不同可分A、B、C三类型。前两者为性连锁隐性遗传,后者为常染色体不完全隐性遗传。     

桑蚕抗氟性遗传模式的研究

本试验以抗氟性差异较大而抗逆性较强的一对品种９５７和杭８作为杂交亲本，用较小的浓度倍数系列，在ＬＣ５和ＬＣ９５范围内，设置８个浓度档次，对其杂交和回交后代的抗氟性情况进行测定，作出了ＬＣ－Ｐ线，由此根据坫冢本模型推导出桑蚕的抗氟性遗传模式是由一对显性主基因控制的，并有一些修饰基因起辅助作用．实验结果同时表明，抗氟性遗传存在明显的偏母遗传现象．     

标本兼治的基因疗法

基因疗法具有“优后原则” “基因美容”伦理不容 癌症、遗传性疾病和神经病是基因疗法的首选     

Bioresistive identification of heat shock protein 90

90 kDa heat shock protein (HSP90) is a ubiquitous molecular chaperone and is one of the abundant proteins present in a cell under normal and stressed conditions. The adenosine triphosphate (ATP) binding region of HSP90 is currently under a great degree of study because of the interest of its role in cancer and protein maintenance; the binding of ATP to HSP90 induces a large conformational change in the protein as a result of the activity of different types of stressors within the cells. In the present paper, a simple microfluidic biosensor is proposed for the characterization of ATP-HSP90 interactions through the principle of bioresistive variation. The experimental results prove that the present biosensor system is highly suitable for the detection of heat shock proteins present in a real-time biological sample, which is very useful for in-situ biomedical applications and rapid pathogenic detections.     

腹地空间经济模型在港口服务潜力评估中的应用--以大连港为例

提出了建立港口腹地空间经济模型的分析方法.针对实际应用中的分析数据量大的情况提出了包括概要腹地确定、定位性经济分析和特定元素空间经济模型建立的渐进的分析模式,提高了方法的适用性.以大连港为例进行了实例建模,表明空间经济模型在港口腹地服务潜力评估中具有较强的可操作性.     

关于儿童过敏性紫癜复发的临床影响因素分析

目的：探讨影响儿童过敏性紫癜（Henoch-Schonlein Purpura,HSP）复发的相关因素,以及采取的预防措施。方法：选取2012年01月至2013年12月在某市级儿童医院住院确诊为HSP,初发病例的患儿作为研究对象,进行回顾性分析。共收集364例患儿,其中失访16例,选择符合诊断标准的患儿348例为研究对象。结果：复发组年龄≥7岁构成比、感染发生率、食物过敏发生率、肾脏受累发生率明显高于未复发组,差异显著（P〈0.05）;复发组男女比例为1.77∶1,未复发组男女比例为1.05∶1,两组男女构成比差异具有统计学意义（P〈0.05）;两组在地区（生活农村、城镇）、发病季节、关节症状、消化道症状、皮疹发生率差异无统计学意义（P〉0.05）。结论：对有上述异常指标患儿应加强随访观察,积极寻找、消除诱因,避免疾病复发与恶化。     

Adaptive evolution and selection of stress-resistant Saccharomyces cerevisiae for very high-gravity bioethanol fermentation

BackgroundIn industrial yeasts, selection and breeding for resistance to multiple stresses is a focus of current research. The objective of this study was to investigate the tolerance to multiple stresses of Saccharomyces cerevisiae obtained through an adaptive laboratory evolution strategy involving a repeated liquid nitrogen freeze–thaw process coupled with multi-stress shock selection. We also assessed the related resistance mechanisms and very high-gravity (VHG) bioethanol production of this strain.ResultsElite S. cerevisiae strain YF10-5, exhibiting improved VHG fermentation capacity and stress resistance to osmotic pressure and ethanol, was isolated following ten consecutive rounds of liquid nitrogen freeze–thaw treatment followed by plate screening under osmotic and ethanol stress. The ethanol yield of YF10-5 was 16% higher than that of the parent strain during 35% (w/v) glucose fermentation. Furthermore, there was upregulation of three genes (HSP26, HSP30, and HSP104) encoding heat-shock proteins involved in the stress response, one gene (TPS1) involved in the synthesis of trehalose, and three genes (ADH1, HXK1, and PFK1) involved in ethanol metabolism and intracellular trehalose accumulation in YF10-5 yeast cells, indicating increased stress tolerance and fermentative capacity. YF10-5 also showed excellent fermentation performance during the simultaneous saccharification and fermentation of VHG sweet potato mash, producing 13.40% (w/v) ethanol, which corresponded to 93.95% of the theoretical ethanol yield.ConclusionsA multiple-stress-tolerant yeast clone was obtained using adaptive evolution by a freeze–thaw method coupled with stress shock selection. The selected robust yeast strain exhibits potential for bioethanol production through VHG fermentation.How to cite: Zhang Q, Jin Y, Fang Y, et al. Adaptive evolution and selection of stress-resistant Saccharomyces cerevisiae for very high gravity bioethanol fermentation. Electron J Biotechnol 2019;41. https://doi.org/10.1016/j.ejbt.2019.06.003     

Diagnosis of Sanfilippo Disease Correlating Clinical, Radiological and Biochemical Findings–A Case Report

Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis. We had combined clinical findings, radiological and ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of diagnosis in the patient. The case of Sanfilippo disease was characterized by slowly progressive, severe CNS involvement with mild somatic disease. Radiological features were suggestive of Sanfilippo disease and urine GAG test for MPS was positive in the case. With the clinical features we had multiple differential diagnoses. The radiological investigations minimized the list and the biochemical test confirmed GAG in urine. In this case the combination of clinical, radiological and biochemical findings confirmed the diagnosis of Sanfilippo disease.     

浅谈静脉输液疗法在犬病诊治中的应用

根据多年从事宠物诊疗的临床经验,通过对犬静脉输液的适应症、静脉输液的部位和方法、静脉输液的原则及剂型选择、静脉输液的量及速度的确定的具体分析,总结出较为科学的静脉输液在犬病诊治中的应用方法及注意事项和其在临床诊疗中的重要意义。     

常见网络故障诊断命令使用技巧

网络故障极为普遍,故障种类也十分繁杂。如果把网络的常见故障进行归类查找,那么无疑能够迅速而准确地查找故障根源,解决网络故障。本文主要就网络常见故障分层诊断进行了阐述,并介绍了网络故障诊断常用的网络命令的功能及其实际应用。     

D-S证据理论和多模型结合的模拟电路故障诊断

为提高模拟电路故障诊断的精确度和正确率,采用信息融合方法进行故障诊断。首先取不同频率下的输出增益作为特征参数,经ANFIS模型、BP模型、RBF模型3种方法的局部诊断,获得彼此独立的证据;然后采用D-S证据理论及方法对证据进行决策融合故障定位,并将局部诊断正确度加入到基本概率赋值的获取中。实例证明,经过融合处理后,诊断的可信度明显增加,有效地提高了故障诊断的正确率和精确度。     

基于XML的CCS考试系统研究

计算机模拟病例（Computer—basedCaseSimulations）指在计算机上模拟患者疾病的状况和诊疗过程,用以评价临床专业学生处理临床问题的能力。计算机病例模拟考试系统的研究与应用对临床专业的教学、对执业医师的考试都有实用价值,用XML描述病例文件是一种较为合适的选择,它的可读性、扩展性、平台无关性恰好解决了病例信息多来源、非结构化等问题。     

Molecular Mycobacteriology and Expansion in Disease Diagnosis

Molecular diagnostic tools for tuberculosis (TB) have evolved quickly with new innovations which can provide unprecedented opportunities for the rapid, sensitive and specific diagnosis of M. tuberculosis in clinical specimens and the status of its drug sensitivity. Microscopy and culture methods can not be replaced but the molecular assays can be applied in parallel with any new molecular tests for the diagnosis of TB. For extra pulmonary specimens, the use of the amplification methods is advocated, since rapid and accurate laboratory diagnosis is critical. Customization of the diagnostic usefulness of a molecular assay, according to the ease, reliability and need for health care sector is of immense value in a modern clinical mycobacteriology laboratory.