Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date

The term retinitis pigmentosa (RP) indicates a heterogeneous group of genetic rare ocular diseases in which either rods or cones are prevalently damaged. RP represents the most common hereditary cause of blindness in people from 20 to 60 years old. In general, the different RP forms consist of progressive photo-receptorial neuro-degenerations, which are characterized by variable visual disabilities and considerable socio-sanitary burden. Sometimes, RP patients do not become visually impaired or legally blind until their 40-50 years of age and/or maintain a quite acceptable sight for all their life. Other individuals with RP become completely blind very early or in middle childhood. Although there is no treatment that can effectively cure RP, in some case-series the disease's progression seems to be reducible by specific preventive approaches. In the most part of RP patients, the quality of vision can be considerably increased by means of nanometer-controlled filters. In the present review, the main aspects of the routine clinical and rehabilitative managements for RP patients are described, particularly focusing on the importance of specific referral Centers to practice a real multidisciplinary governance of these dramatic diseases.     

北京朝阳医院深部真菌感染的临床分析和药敏试验

目的对院内临床深部真菌感染的标本进行分离鉴定和药敏试验,为临床感染性疾病提供病原学诊断和合理使用抗真菌药物的依据。方法采用念珠菌显色培养基进行鉴定。对真菌(丝状菌)用棉蓝染色直接镜检和培养相结合的方法进行鉴定。采用纸片扩散法进行药敏试验。结果450株真菌标本中,念珠菌396株,占88.0%;真菌(丝状菌)54株,占12.0%。分离菌株对药物的敏感性分别为氟康唑90.15%,两性霉素B97.98%,伊曲康唑91.67%,氟胞嘧啶89.1%。结论院内真菌感染以念珠菌最为多见,特别是白念珠菌和热带念珠菌。     

常用生化试剂对钾离子测定的交叉污染分析

目的：研究常用生化试剂对钾测定的试剂交叉污染情况,并探讨解决方法。方法：根据雅培公司测定试剂交叉污染的程序,分别测定各种常用生化试剂对钾测定的交叉污染情况,对有交叉污染的试剂设定SmartWash功能来消除交叉污染。结果：ADA、ALT、GSP、TB测定试剂对钾测定存在交叉污染,设定SmartWash功能后基本可消除交叉污染。结论：多种常用的生化试剂对测定血钾存在试剂交叉污染问题,新的试剂的应用应该根据试剂交叉污染的程序来测定试剂交叉污染情况,找到有效的方法来消除交叉污染,减少测定结果的误差。     

Gene therapy in The Netherlands: highlights from the Low Countries

Gene therapy is an active research area in The Netherlands and Dutch scientists involved in fundamental and clinical gene therapy research significantly contribute to the progresses made in this field. This ranges from the establishment of the 293, 911 and PER.C6 cell lines, which are used worldwide for the production of replication-defective adenoviral vectors, to the development of targeted viral vectors and T lymphocytes as well as of non-viral vectors. Several milestones have been achieved in Dutch clinical gene therapy trials, including the first treatment worldwide of patients with adenosine deaminase deficiency with genetically corrected hematopoietic stem cells in collaboration with French and British scientists. Until now, about 230 patients with various diseases have been treated with viral and non-viral gene therapy in this country. Ongoing and upcoming Dutch clinical trials focus on the translation of new developments in gene therapy research, including the restoration of genetic defects other than SCID, and the use of oncolytic adenoviruses and targeted T cells for the treatment of cancer. The growing commercial interest in Dutch clinical gene therapy is reflected by the involvement of two Dutch companies in ongoing trials as well as the participation of Dutch clinical centres in large phase III international multicenter immuno-gene therapy trials on prostate cancer sponsored by an American company. Translational gene therapy research in The Netherlands is boosted at a governmental level by the Dutch Ministry of Health via a dedicated funding programme. This paper presents an overview on milestones in Dutch basic gene therapy research as well as on past, present and future clinical gene therapy trials in The Netherlands.     

辅酶Q10的生理作用及临床应用

辅酶Q10是线粒体电子传递链中的一种重要辅酶,参与细胞氧化磷酸化及ATP生成过程。辅酶Q10是细胞代谢呼吸激活剂和免疫增强剂,具有抗氧化和自由基清除功能。辅酶Q10药物的临床应用主要在心血管疾病、高血压、神经系统疾病和免疫系统疾病方面。     

The emerging role of fibroblast‐like synoviocytes‐mediated synovitis in osteoarthritis: An update

Osteoarthritis (OA), the most ubiquitous degenerative disease affecting the entire joint, is characterized by cartilage degradation and synovial inflammation. Although the pathogenesis of OA remains poorly understood, synovial inflammation is known to play an important role in OA development. However, studies on OA pathophysiology have focused more on cartilage degeneration and osteophytes, rather than on the inflamed and thickened synovium. Fibroblast‐like synoviocytes (FLS) produce a series of pro‐inflammatory regulators, such as inflammatory cytokines, nitric oxide (NO) and prostaglandin E₂ (PGE₂). These regulators are positively associated with the clinical symptoms of OA, such as inflammatory pain, joint swelling and disease development. A better understanding of the inflammatory immune response in OA‐FLS could provide a novel approach to comprehensive treatment strategies for OA. Here, we have summarized recently published literatures referring to epigenetic modifications, activated signalling pathways and inflammation‐associated factors that are involved in OA‐FLS‐mediated inflammation. In addition, the current related clinical trials and future perspectives were also summarized.     

胞外和胞内菌胞外囊泡的功能及应用

细胞外囊泡(Extracellular Vesicles,EVs)是从细胞膜上脱落或者分泌的双层膜结构的囊泡状小体.真核生物、细菌、古细菌和支原体等具有细胞结构的生物均能够释放EVs.细菌分泌的EVs含有DNA、RNA及蛋白质等多种成分,其在细菌毒力保持、免疫逃逸、细菌间物质运输、宿主细胞免疫调节、宿主转录基因调节、耐...     

第三代测序技术的研究进展与临床应用

Sanger测序法,又称第一代测序技术,作为测序金标准推动了人类基因组“工作框架图”的绘制,但通量低、成本高的缺点限制了其进一步大规模应用。第二代测序技术,又称下一代测序技术,因其通量高、成本低等优点使得基因测序在基础研究与临床诊疗中得到广泛应用,但短读长一直是其不可回避的技术短板。第三代测序技术的出现,因其具有长读长优势,为基因序列上复杂重复区域解析与高质量基因组组装提供了新的技术手段。近年来,第三代测序技术进一步发展与完善,同时在肿瘤、免疫、生殖等相关领域逐步体现出临床应用价值。本文将综述第三代测序技术的研究进展与临床应用。     

加巴喷丁与卡马西平治疗坐骨神经痛的疗效比较

目的 探讨加巴喷丁与卡马西平治疗坐骨神经痛的临床疗效.方法 选取2017年1月 ～2020年1月治疗的坐骨神经痛患者80例,随机分为观察组和对照组各40例,观察组给予加巴喷丁治疗,对照组给予卡马西平治疗.采用视觉模拟评分法(VAS)对两组患者治疗前、治疗4周后的疼痛程度进行评估,采用生活质量量表(QOL)评价两组患者治...