Evaluation of the Early Access STR Kit v1 on the Ion Torrent PGM™ platform

The Early Access STR Kit v1 is designed to detect 25-plex loci with next generation sequencing (NGS) technology on the Ion Torrent PGM™ platform, including 16 of 20 expanded Combined DNA Index System (CODIS) core loci (CSF1PO, D1S1656, D2S1338, D2S441, D3S1358, D5S818, D7S820, D8S1179, D10S1248, D13S317, D16S539, D19S433, D21S11, TH01, TPOX and vWA), 8 non-CODIS core loci (D1S1677, D2S1776, D4S2408, D5S2500.AC008791, D6S1043, D6S474, D9S2157 and D14S1434) and Amelogenin. In this study, we compared the Early Access STR Kit v1 with the Ion Torrent™ HID STR 10-plex to find out its improvements and explored an appropriate analytical threshold to enhance the performance. In addition, seven experiments were conducted to evaluate the Early Access STR Kit v1 such as studies of repeatability, concordance, sensitivity, mixtures, degraded samples, case-type samples and pedigrees. Other than a little discordance (0.95%) with CE-STR results observed at D21S11, NGS-STR results correctly reflected the sample being tested. Repeatable results were obtained from both initial PCRs and emPCRs aside from a few variations of allele coverage. Full profiles could be obtained from 100 pg input DNA and >48.84% profiles from 10 pg input DNA. Mixtures were easily detected at 9:1 and 1:9 ratios. This system could be adapted to case-type samples and degraded samples. As a whole, the Early Access STR Kit v1 is a robust, reliable and reproducible assay for NGS-STR typing and a potential tool for human identification.     

青年胰腺肿瘤16例临床诊治体会

目的探讨青年胰腺肿瘤的临床特点,以提高青年胰腺肿瘤的早期诊断率和治疗效果。方法分析16例青年胰腺肿瘤的临床表现,影像学检查结果,实验室检查结果,临床病理,治疗方法。结果青年胰腺肿瘤首发主要表现为上腹饱胀不适,上腹痛或背部疼;病理类型以腺癌多见;辅助影像学检查中,B超符合率75.0%,CT符合率92.0%,MRI符合率83.0%;根治性手术率为37.5%。患者预后差,5年生存率31.3%。结论青年胰腺肿瘤根治性手术率低,预后差,生存时间较短,应重视青年胰腺肿瘤的临床早期诊断。     

侵袭性念珠菌感染的早期诊断研究进展

侵袭性念珠菌感染在重症患者中的发病率逐年上升。其临床表现缺乏特异性,容易漏诊、误诊,传统的诊断方法时间长、阳性率低,容易延误治疗,影响愈后,因此早期诊断尤为重要。1,3-β-D葡聚糖、甘露聚糖及其抗体、抗烯醇化酶抗体、念珠菌评分及定植指数具有早期诊断价值。     

Cochlear implant assessment and candidacy for children with partial hearing

Children who have partial hearing (PH) in the low frequencies and profound sensorineural hearing loss in the high frequencies can present a challenge to cochlear implant (CI) teams in terms of referral, assessment, and candidacy. Neither clinical criteria nor optimal timing for implantation has been explored in the literature. Data from both the Hearing Implant Centres of Birmingham Children's Hospital and St Thomas’ Hospital indicate that it is clinically appropriate to implant children with PH; they perform better with CIs than with hearing aids, even if their hearing is not fully preserved. We have also found that children need early access to high frequency sound in order to reach their full potential.     

颈前路零切迹自锁融合器治疗跳跃型颈椎病早期疗效观察

目的观察分析颈前路零切迹自锁融合器治疗跳跃型颈椎病的早期临床疗效,评价手术对邻近颈椎退变的影响。方法回顾性分析自2013-06—2014-06采用颈前路零切迹自锁融合器治疗的跨节段颈椎病13例,共置入椎间融合器26枚。结果本组手术时间80~120(95.00±11.18)min,术中出血量70~120(93.85±16.60)ml。术后吞咽困难1例,予以对症处理后有所好转,末次随访时无症状。定期随访至术后1年。术后随访大多数患者椎间盘未见明显退变,1例Kellgren颈椎退变分级由0级退变为1级;1例Miyazaki椎间盘退变分级由Ⅰ级退变为Ⅱ级,1例由Ⅱ级退变为Ⅲ级。术后1周VAS评分、术后6个月JOA评分较术前明显改善,差异有统计学意义(P0.05)。术后椎间隙高度(7.45±0.21)mm,较术前明显增高,差异有统计学意义(P0.05)。结论颈前路零切迹自锁融合器治疗跳跃型颈椎病的初期疗效满意,临床症状缓解明显,颈椎椎间隙融合率高,并发症少,可减缓邻近颈椎的退变。     

氯胺酮炎症调节作用围术期应用进展

背景 氯胺酮是临床上常用的麻醉药物,但其除了具有传统的麻醉作用外,近年来对氯胺酮抗炎作用的研究已经取得了较大进展. 目的 综述氯胺酮抗炎作用在临床应用中的研究进展,为其在围术期应用提供参考. 内容 氯胺酮有炎症调节作用,能够及时防止局部炎症反应的恶化,又避免了过度抑制促炎反应.氯胺酮是免疫调节剂,而非免疫抑制剂. 趋向 如何优化氯胺酮的给药剂量、方式和时机,是未来的研究趋势.     

谷氨酸在维持或损害记忆中的双向调节作用

背景 适当激动谷氨酸受体(glutamate receptor,GluR)是学习记忆所必须的,然而过度激动GluR则会在海马区域内产生病理性的长时程增强效应,严重者会出现兴奋性毒性(excitotoxicity,EAA)反应,诱发神经元损伤,导致认知障碍.目的 探讨谷氨酸(glutamate,Glu)对记忆的双向调节作用.内容 综述Glu的含量、生理和调节机制、GluR的种类和结构特点、Glu维持记忆的机制及其参与EAA反应进而损害记忆的过程.趋向 神经系统正常运作需要Glu的浓度和GluR活性均处于适宜水平.     

蛋白质组学在脓毒症研究中的应用

背景 脓毒症是指由感染引起的全身炎症反应综合征,其结果是引起脓毒症休克和多器官功能障碍综合征,临床后果严重.寻控高灵敏度和特异度生物标志物对实现脓毒症的早期诊断、治疗及改善患者预后有重要意义.蛋白质组学相关技术有高通量筛选优势,可用于分离和鉴定脓毒症患者体液、细胞等内的差异蛋白质. 目的 综述蛋白质组学在脓毒症中的研究现状,为其在脓毒症中后续研究提供参考. 内容 总结蛋白质组学在探究脓毒症发病机制、早期诊断和治疗中的应用. 趋向 虽然蛋白质组学技术仍存在缺点,但其自身优势有助于为脓毒症的防治寻找有价值的生物标志物.     

In Vivo Mobilization and Functional Characterization of Nonhuman Primate Monocytic Myeloid‐Derived Suppressor Cells

Increasing evidence from small animal models shows that myeloid‐derived suppressor cells (MDSCs) can play a crucial role in inhibiting allograft rejection and promoting transplant tolerance. We identified CD3^?CD20^?HLA‐DR^?CD14⁺CD33⁺CD11b⁺ cells in peripheral blood of healthy rhesus macaques. These putative monocytic MDSCs constituted 2.1% ± 1.7% of lin^?HLA‐DR^? peripheral blood mononuclear cells. Administration of granulocyte‐macrophage colony‐stimulating factor (CSF) and granulocyte CSF increased their incidence to 5.3% ± 3.4%. The total number of MDSCs that could be flow sorted from a single whole rhesus leukapheresis product was 38 ± 13 × 10⁶ (n = 10 monkeys). Freshly isolated or cryopreserved MDSCs from mobilized monkeys incorporated in cultures of anti‐CD3– and anti‐CD28–stimulated autologous T cells markedly suppressed CD4⁺ and CD8⁺ T cell proliferation and cytokine secretion (interferon γ, IL‐17A). Moreover, these MDSCs enhanced CD4⁺CD25^hiFoxp3⁺ regulatory T cell (Treg) expansion while inhibiting proliferation of activated memory T cells and increasing Treg relative to effector and terminally differentiated memory T cells. Inhibition of arginase‐1, but not inducible nitric oxide synthase activity, partially reversed the inhibitory effect of the MDSCs on CD8⁺ T cell proliferation. Consequently, functional MDSCs can be isolated from nonhuman primates for prospective use as therapeutic cellular vaccines in transplantation.

     

内毒素耐受研究进展

背景 细菌内毒素(endotoxin,ET)或细菌脂多糖(lipopolysaccharide,LPS)入血是大多临床全身性炎症综合征和感染性休克的首要原因,而ET或LPS耐受却对机体有一定保护作用.但有关ET耐受的机制还不完全清楚. 目的 综述近年来有关ET耐受的研究进展,为未来有关ET耐受机制的研究提供指导. 内容 主要从细胞水平、受体水平、信号通路水平、分子水平研究ET耐受机制的进展情况. 趋向 进一步研究ET耐受中的分子调控机制.