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双语推荐:PLP)

蛋白脂蛋白1(PLP1)相关性疾病是指PLP1基因突变所致的一组临床宽泛且重叠的疾病谱系,连续的疾病谱系包括从严重脑白质病变的佩梅病(PMD,MIM# 312080)到症状相对温和的痉挛性截瘫(SPG2,MIM# 312920).PLP1相关性疾病的致病基因型处于不断发现和更新当中,其临床表型之间存在明显的异质性,同时与PLP1相关性疾病表型相似的疾病众多,因此,临床准确诊断这一组疾病存在巨大挑战.现将PLP1相关性疾病的表型和基因型及其之间的关系综述如下,希望能对临床医师诊断这一复杂谱系疾病有所帮助.
Proteolipid protein 1 (PLP1)-related disorders are a series rare X-linked recessive disorders caused by mutations of PLP1 gene.There is a spectrum of PLP1-related disorders from very severe connatal PelizaeusMerzbacher disease(PMD,MIM# 312080),through classical PMD to mild spastic paraplegia type 2 (SPG2,MIM# 312920),with some correlation between the type of mutation and the phenotype.The genotype of PLP1-related disorders was constantly discovered and updated,meanwhile there was obvious heterogeneous within clinical phenotypes.Moreover,there were so many diseases similar to PLP1-related disorders.Therefore,there was a huge challenge when clinician met with PLP1-related disorders.The aim of this report is to summarize correlation between the genotype and the phenotype of PLP1-related disorders,and give a help for clinician to diagnose this group complicated disorders.

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目的比较动力髋螺钉(DHS)固定、近端锁定板(PLP)固定、近端解剖板(PAP)固定及人工关节置换(AJR)等4种手术方式治疗股骨转子间骨折的安全性和疗效。方法对318例在本院手术治疗的股骨转子间骨折患者的临床资料进行回顾性分析,按照手术方式分为DHS组、PLP组、PAP组及AJR组,比较各组的平均手术时间、术中出血量、术中输血量、手术相关并发症发生情况、愈合时间及Harris髋关节功能评分。结果 PLP组手术时间最短,与其他3组比较差异有统计学意义(P0.05);DHS组术中出血量及术中输血量最多,与其他3组比较差异有统计学意义(P0.01);PLP组骨折愈合时间最短,与其他3组比较差异有统计学意义(P0.01);PLP组Harris髋关节功能评分最高,但各组间比较差异无统计学意义(P0.05);DHS组、PLP组、PAP组、AJR组手术相关并发症发生率分别为7.14%、3.09%、8.33%、9.80%,各组间比较,差异无统计学意义(均P0.05)。结论 DHS、PLP、PAP、AJR等4种手术方式各具不同的优缺点,但PLP在手术安全性和疗效方面较其他3种手术方式更具有一定优势。
Objective To compare the operation safety and effect of four different surgical procedures including dynam-ic hip screw (DHS) fixation,proximal lock plate (PLP) fixation,proximal anatomical plate (PAP) fixation and artificial joint replacement (AJR) in the treatment of intertrochanteric fracture. Methods Clinical data from 318 patients with in-tertrochanteric fracture accepted surgical treatment in our hospital were retrospectively analyzed.According to different surgical procedures,they were divided into four groups: DHS group,PLP group,PAP group,and AJR group.The average operation time,intraoperative amount of bleeding,intraoperative blood transfusion,complications related to surgery,healing time,and Harris hip joint function scoring were compared among these four groups. Results The operation time in PLP group was shortest with statistical differences in comparison with the other three groups separately (P 0.05).The incidences of complica-tions related to surgery in DHS group,PLP gr

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重音是语言交流中不可或缺的部分,在语言交流中扮演着非常重要的角色。为了验证基于听觉模型的短时谱特征集在汉语重音检测方法中的应用效果,使用MFCC(Mel frequency cepstrum coefficient)和RASTAPLP(relative spectra perceptual linear prediction)算法提取每个语音段的短时谱信息,分别构建了基于MFCC算法的短时谱特征集和基于RASTA-PLP算法的短时谱特征集;选用NaiveBayes分类器对这两类特征集进行建模,把具有最大后验概率的类作为该对象所属的类,这种分类方法充分利用了当前语音段的相关语音特性;基于MFCC的短时谱特征集和基于RASTA-PLP的短时谱特征集在ASCCD(annotated speech corpus of Chinese discourse)上能够分别得到82.1%和80.8%的汉语重音检测正确率。实验结果证明,基于MFCC的短时谱特征和基于RASTA-PLP的短时谱特征能用于汉语重音检测研究。
Accent is a critically important component of spoken communication, and plays a very important role in spoken communication. In order to verify the effect of short-time spectrum feature set based on auditory model in Chinese accent detection method, this paper uses MFCC (Mel frequency cepstrum coefficient) algorithm and RASTA-PLP (relative spectra perceptual linear prediction) algorithm to extract each voice segment of short-time spectrum information, and builds short-time spectrum feature sets based on MFCC algorithm and RASTA-PLP algorithm. Then, it chooses NaiveBayes classifier to model the two feature sets, and chooses the classes with maximum a poste-riori probability as the object’s class. This classification method makes full use of the related phonetic features of speech segment. Short-time spectrum feature set based on MFCC and short-time spectrum feature set based on RASTA-PLP respectively achieve 82.1%and 80.8%accent detection accuracy on ASCCD (annotated speech c
应用第3代携带 CMV 启动子-EGFP 报告基因表达元件的重组慢病毒,脂质体法转染293T 细胞,调整转染条件进行了平行比较从而获得最优条件组合,得到的包装病毒感染鸡、鸭胚成纤维细胞并计算表达效率。结果表明4种质粒(pLP1、pLP2、p-VSVG、pll3.7)以6.5∶2.5∶3.5∶7.5比例组成混合液转染效率最高,而此条件下提高脂质体-DNA 转染复合物浓度达到1∶2时包装病毒滴度达到峰值。用包装病毒感染鸡胚和鸭胚成纤维细胞的效率分别为12%和8%。试验结果证实重组慢病毒可以成功转染家禽细胞,对于进一步探索慢病毒对家禽干细胞的转染和转基因家禽的获得提供了试验依据。
The third generation lentiviral system constructed with CMV promoter-EGFP reporter gene expression element were packaged in 293T cells by various combinations of plasmids and liposome to get the optimum level, and by the final transfection efficiency of the recombinant lentivirus was detected by infection efficiency of chicken and duck embryonic fibroblast cells.Results showed that optimal combination of the four plasmids (pLP1,pLP2, p-VSVG,pll3.7)were at a ratio of 6.5∶2.5∶3.5∶7.5 mixture and the liposome-DNA concentrations was 1∶2.Packaging lentivirus can transfect CEF and DEF cells and get 12% and 8% efficiency respectively.The results showed that the recombinant lentiviral vector can transfect poultry cells.It provides the experimental basis for fur-ther exploration of poultry stem cells and transgenic poultry.

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对生活中涌现的海量语音数据需要进行快速而准确的检索.提出一种基于动态匹配词格检索的关键词检测方法,应用TRAP特征和多层感知器创建更为精准的音素Lattice.在索引阶段执行一个改进的维特比算法遍历Lattice来创建一个固定长度的音素序列数据库,在检索阶段应用最小编辑距离作为置信度来实现关键词的检出.实验结果表明,该方法相比应用MFCC和PLP特征的基线系统具有一定的优势,召回率可提升5%左右.
The large amount of speech data requires techniques for rapid and accurate search. This paper proposes a keyword spotting method based on dynamic match Lattice spotting (DMLS). It generates more ac-curate phone Lattice with TRAP features and multilayer perceptron, and performs a modiifed Viterbi traversal to compile a database of ifxed-length phone sequences in speech indexing. In the searching stage, a minimum edit distance is used as the conifdence score to implement the keyword spotting. Tests show that the proposed method is superior to baseline systems with MFCC and PLP features with the recall rate improved by about 5%.

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目的 分析并确定佩梅样病(Pelizaeus-Merzbacher-like disease,PMLD)3个家系的临床及分子遗传学特点,为PMLD患者家庭提供准确的遗传咨询及产前检查打基础.方法 2010年5月至2013年3月北京大学第一医院儿科收集3个家系4例(P1-4) PMLD男性患儿及其家系成员临床资料,其中P1与P2为表型相似的同胞兄弟,进行临床特点分析:包括病史、体征、辅助检查特点;应用聚合酶链反应和DNA直接测序方法进行缝隙连接蛋白gamma-2基因(GJC2)与蛋白脂蛋白1基因(PLP1)突变检测,采用多重连接依赖的探针扩增技术(MLPA)检测PLP1重复突变,明确基因突变类型,进行分子遗传学特点分析.结果 1.临床特点:4例患儿均具有共济失调以及头颅磁共振成像(MRI)脑白质髓鞘化不良特点,P1-3主要于婴儿期发病,以眼球震颤为首发症状,均表现为精神运动发育落后、肌张力低下.P4于8岁7个月以手抖、听力下降发病,根据临床特征及头颅MRI表现P1-4均符合临床诊断PMLD.2.遗传学特点点:4例PMLD患儿共发现GJC2 5种核苷酸改变:c.579delC(p.Gly193fsX17)、c.1296_1297insG(p.Gly433fsX59)、c.735C>A(p.Cvs245X)、c.689delG(p.Gly230AlafsX241)与c.1199C> A(p.Ala400Glu),均为国际上未报道的新突变. P1-3均为复合杂合突变致病,分别遗传自表型正常的父母;P4发现GJC2 c.1199C >A(p.Ala400Glu)纯合突变,表型正常P4之父为本位点的杂合改变,母亲在本位点为野生型.结论 本研究3个家系4例PMLD患儿临床表现均符合PMLD的特点,PMLD临床诊断成立.GJC2分析发现了5种突变均为国际上尚未报道的新突变,扩展了GJC2的突变谱.明确了PMLD 3个家系临床与分子遗传学特征,为准确的遗传咨询和进一步的产前诊断打下了基础.
Objective To analyze the clinical and molecular genetic features in 3 pedigrees with PelizaeusMerzbacher-like disease (PMLD),thus providing a better genetic counseling and correct prenatal diagnosis for those families with PMLD.Methods Clinical data of 4 male pediatric patients (P1-4) and their family members in 3 pedigrees with PMLD were collected from May,2010 to Mar.2013 in Department of Pediatrics,Peking University First Hospital,including medical history,physical signs,and auxiliary examinations.For 4 pediatric patients,P1 and P2 were siblings with similar clinical manifestations.Polymerase chain reaction and sequence analysis of DNA were performed to determine the gene mutation of gap junction protein gamma-2 (GJC2) and proteolipid protein 1(PLP1),and multiplex ligation-dependent probe amplification was utilized to detect PLP1 duplication.With these detection methods,the gene mutations were confirmed,and then genetic features were analyzed.Results 1.Clinical features:Four patient

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对猪流行性腹泻的流行病学、病理学和防控研究新进展进行了综述。2013年发现该病在美国和古巴也有流行,乳汁和猫可能在传播中起作用。病毒表达的S蛋白含有该蛋白从内质网、高尔基体运送到细胞膜的信号,参与猪流行性腹泻病毒(PEDV)的复制和PEDV感染引起的神经系统病变。N蛋白参与病毒的复制和转录,通过延长S期抑制肠上皮细胞生长,并且刺激上皮细胞高水平表达IL-8。E蛋白可上调IL-8的表达,但不调节肠上皮细胞的细胞周期。ORF3具多态性,可调节病毒的繁殖。Ⅰ型干扰素对病毒的抑制涉及PLP2蛋白使RIG-I和STING去泛素化干扰RIG-I和STING介导的信号传导过程。槲皮素-7-鼠李糖苷、朝鲜淫羊藿的水提物具有很好的抗病毒活性。PED的研究在以下方面还有待深入,如病毒的侵入、复制机制,疫苗免疫保护机制,抗病毒活性物质在生产实际中的效果。
The research progresses on epidemiology,pathogenesis and prevention of PED were summarized.PED was firstly reported in the United States and Cuba in 2013.Milk and cats may play a role in the spread of this dis-ease.S protein expressed by PEDV have signals on carrying S protein from endoplasmic reticulum,Golgi apparatus to membrane.This protein participates in PEDV replication and nervous system pathogenesis caused by PEDV in-fection.N protein involves in virus replication and transcription and inhibites intestinal epithelial cell growth by ex-tending S phase of its cell cycle,and stimulates the high level expression of IL-8 in intestinal epithelial cells.E pro-tein stimulates the high level expression of IL-8 in epithelial cells and does not regulate intestinal epithelial cell growth.ORF3 has polymorphism with adjustment of the virus reproduction.Interferon inhibition on PEDV is done by RIG-I and STING deubiquitylation induced by PLP2.Quercetin-7-rhamnoside,aqueous extract of

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目的 研究探讨针刺复合神经阻滞治疗上肢截肢术后幻肢痛(phantom limb pain,PLP)的疗效. 方法 80例上肢PLP患者采用随机数字表法分为4组(每组20例):基本治疗组(A组)、针刺+基本治疗组(B组)、神经阻滞+基本治疗组(C组)、神经阻滞+针刺+基本治疗组(D组).治疗前后分别采用视觉模拟评分法(visual analogue scales,VAS)、简明健康状况调查表(the MOS item short from health survy,SF-36)和综合疗效评估,并分别进行治疗前后和组间比较. 结果 4组患者治疗前后VAS评分及SF-36评分差异均有统计学意义(P<0.05),治疗后VAS评分降低,SF-36评分明显升高;与A组(52±6)比较,B组(42±8)、C组(42±8)、D组(32±6)治疗后VAS评分明显降低,差异有统计学意义(P<0.05);与A组[(精神评分(58±9),身体评分(36±5)]比较,B组[(精神评分(67±9),身体评分(43±4)]、C组[(精神评分(66±6),身体评分(43±5)]、D组[(精神评分(77±10),身体评分(50±6)]治疗后SF-36评分明显升高,差异有统计学意义(P<0.05);与B组、C组比较,D组治疗后VAS评分明显降低,SF-36评分明显升高,差异有统计学意义(P<0.05);4组患者综合疗效比较:治疗5周后,与A组(70%)比较,B组(85%)、C组(85%)、D组(100%)的综合疗效差异有统
Objective To investigate the effect of combination therapy of nerve block and acupuncture to phantom limb pain of upper extremity after amputation.Methods Eighty patients with phantom limb pain of upper limb were randomly divided into four groups (n=20):20 patients received basic treatment (A group),which included Medications and Psychotherapy,20 patients recieved acupuncture and basic treatment (B group),20 patients recieved nerve block and basic treatment (C group),20 patients recieved nerve block,acupuncture and basic treatment (D group).Scores of VAS,SR-36 and comprehensive comparison of efficacy were used to assess before and after treatment among the four groups.Results visual analogue scales (VAS) scores and SF-36 scores of four groups of patients were significant differences after treatment compared with before treatment (P<0.05).VAS scores decreased after treatment,while SF-36 scores were significantly increased.When compared with A group (52±6),VAS scores of B gro

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运动性构音障碍患者常可出现腭咽闭合功能不全,其言语特点表现为鼻漏气造成的鼻音化构音,严重降低患者言语清晰度,影响其语言交流能力。目前对腭咽闭合功能的评价多局限在腭裂及其修补术后,缺乏对构音障碍患者的研究。克服鼻音化构音的方法主要有康复生理法和使用辅助具,主要为腭托和鼻阀门等。国内尚未见到使于腭托治疗运动性构音障碍患者鼻音化的应用报道。
Dysarthric patients often present velopharyngeal incompetence (VPI), characterized nasalization articulation for hypernasali-ty, which seriously impaired their communication. Research of evaluation of VPI is mainly about cleft palate and postoperative, few about the dysarthria. Some approaches, such as physiologic approach to rehabilitation, have been used to correct hypernasality, and prosthesis, such as palatal lift prosthesis (PLP) and nasal speaking valve (NSV), are also proved effectively. PLP has been widely used for hypernasality oversea, but fewer in China.

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为了解决数控机床最小维修的可靠性评估问题,提出了基于幂律过程的可靠性评估方法,建立了基于幂律过程的故障数据模型。对故障数据进行趋势检验和更新过程检验,验证了幂律过程应用的前提条件成立。提出CBT与CLT的分步检验方法对评估涉及的多台机床的同质性进行了验证。用极大似然估计法和Fisher信息矩阵法给出了模型参数的点估计与区间估计,并给出了机床可靠性指标的点估计和基于Delta法的区间估计。应用Cramér-von Mises法对模型进行拟合优度检验。实例分析表明:幂律过程能够反映出数控机床的瞬时与累积可靠性特性,提出的CBTCLT分步检验方法能够有效地对多台机床同质性做出判断,得到的结果更符合实际。
An approach of assessing reliability for multiple NC machine tools with minimal repair based on power law process (PLP)was proposed,and a PLP function for failure times was built. Trend test and renewal test were performed on the failure data to assure the application of power law process was valid. CBT (common beta test)and CLT (common lambda test)two-step-test was de-veloped to check the homogeneity of multiple machines in assessing. Point and confidence interval estimators were given by maximum likelihood method and Fish information matrix. Point estimates of reliability indexes were also derived with their confidence bounds of-fered through Delta method. The Cramér-von Mises method was finally adopted to do the goodness-fit-test. Real example analysis dem-onstrates that PLP can give both instantaneous and cumulative reliability properties for NC machine tools,CBT&CLT test is capable to verify the homogeneity of multiple machines adequately,hence the results are more practical.

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