中国北方人群恒齿中变形链球菌和细菌总数的定量检测

Background  Streptococcus mutans (S. mutans) is the prime pathogen of dental caries. There are few reports that studied the relationship between S. mutans, bacteria and dental caries in permanent teeth when compared to those in primary teeth. This study aimed to detect S. mutans and bacteria of dental caries and non-caries groups in permanent teeth from a north China population by real-time polymerase chain reaction (PCR) and compare the relationship between the number of these bacteria and the prevalence of dental caries in permanent teeth.

Methods  Human saliva samples were collected from 142 subjects with permanent teeth. According to their dental tooth (DT), 142 subjects were divided into a dental caries group (DT ³1) and a non-caries group (DT=0). With specific primers for S. mutans and 16S rRNA, the total number of S. mutans and total bacteria of 142 saliva samples were detected by real-time PCR and statistically analyzed.

Results  There was no significant difference between the detection rates of S. mutans (P=0.118) and medians of S. mutans (P=0.115). The ratio of S. mutans to total bacteria in people with dental caries was significantly higher than in those without caries (P <0.001), but the total number of bacteria in people with dental caries was significantly lower than in those without caries (P <0.001).

Conclusions  S. mutans had different effects on caries in the permanent teeth of several individuals from a north China population. The ratios of S. mutans to total bacteria in saliva detected by real-time PCR with Sm479F/R and 16S RNA primers were closely associated with the prevalence of dental caries in the same population. These assays may be useful for the assessment of an individual’s risk of dental caries.

     

Detection of hepatitis C virus RNA sequences in cholangiocarcinomas in Chinese and American patients

ＨｅｐａｔｉｔｉｓＣｖｉｒｕｓ(ＨＣＶ)ｉｎｆｅｃｔｉｏｎｉｓｒｅｃｏｇｎｉｚｅｄａｓａｍａｊｏｒｐａｔｈｏｇｅｎｗｏｒｌｄｗｉｄｅａｎｄａｆｒｅｑｕｅｎｔｅｔｉｏｌｏｇｉｃｆａｃｔｏｒｉｎｔｈｅｄｅｖｅｌｏｐｍｅｎｔａｎｄｐｒｏｇｒｅｓｓｉｏｎｏｆｃｈｒｏｎｉｃｈｅｐａｔｉｔｉｓ,ｃｉｒｒｈｏｓｉｓａｎｄｈｅｐａｔｏｃｅｌｌｕｌａｒｃａｒｃｉｎｏｍａ(ＨＣＣ)1　ＴｈｅｐｒｅｓｅｎｃｅｏｆＨＣＶＲＮＡｉｎｂｉｌｅｄｕｃｔｅｐｉｔｈｅｌｉａｌｃｅｌｌｓｉｎｃｈｒｏｎｉｃｈｅｐａｔｉｔｉｓＣｐａｔｉｅｎ…     

1型肌强直性营养不良患者的有氧训练

用脚踏车测力器对12例肌强直性营养不良患者12周的有氧训练效果进行研究。在训练前后,用脚踏车测试和肌肉形态学检查评估训练效果。患者的最大摄氧量增加了14%,最大工作负荷增加了11%,肌纤维直径显著增加,但肌酸激酶未因训练而增加。该研究提示有氧训练是安全的,并能有效提高肌强直性营养不良患者的适应性。1型肌强直性营养不良患者的有氧训练@rngreen M.C.$Department of Neurology 2082, National University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark ,Dr. @Olsen D.B. @Vissing J. @袁…     

强直性肌营养不良临床及遗传特点分析

目的 探讨强直性肌营养不良(DM)的临床及遗传特点,以提高对DM疾病的认识和诊断水平.方法 对一DM家系确诊的5例患者临床资料进行收集及回顾性分析,包括患者基本资料、临床表现、血液生化、心电图、肌电图及肌肉活检等.收集完整的家系资料进行遗传分析.结果 5例DM患者临床均为慢性病程,以肌强直、肌无力、肌萎缩为主要表现,伴有眼部、心脏、内分泌和生殖、神经等多系统损害如白内障、心律失常、脱发、阳痿、习惯性流产、智能减退等,血清肌酶轻度增高或正常,肌电图具有特征性肌强直放电和肌源性损害,肌肉活检呈非特异性肌病特征.家系中男女均有发病,从第2代到第4代均有患者,每一代患病人数≥50%,发病年龄逐代提前.通过遗传分析判断出致病基因来源.结论 DM是一种以肌强直、肌无力、肌萎缩为主要表现的多系统损害的遗传性疾病,临床表现复杂多样.遗传方式符合常染色体显性遗传特点,具有遗传早现现象.识别DM的临床特点有助于提高对其认识和诊断水平.     

X-连锁肌营养不良症分子缺失的初步研究

作者应用DMD位点完整的cDNA分子中的cDMD 8作为杂交探针,对6例无亲缘关系的DMD/BMD个体基因组进行了Southern分子杂交,在国内首次报告3例DMD个体基因组DMD位点存在分子缺失,且其缺失部位和分子大小均表现为遗传异质性,证实了Koenig等的观点:分子水平的亚显微缺失为该位点的主要突变方式之一。本研究为直接,快速,准确地进行X—连锁肌营养不良症的产前基因诊断奠定基础。     

强直性肌营养不良1型1例报道及文献复习

强直性肌营养不良1型（DM1）为常染色体显性遗传病,临床表现多样,少数DM1患者可合并特殊类型感觉障碍,容易与颈椎间盘突出合并脊髓变性混淆。本研究报道1例于中国医科大学附属第一医院神经内科就诊的以颈椎间盘突出病变作为首诊的DM1患者的临床诊治经过并文献复习。     

青年肌强直性营养不良Ⅰ型患者的严重心律失常

很少有人研究青年肌强直性营养不良Ⅰ型(D M1)患者的心脏快速性心律失常,本研究观察了11例年龄10～18岁的患者主要的心律失常,快速性心律失常较脉搏短绌更频发,患者中观察到广泛的CTC表达变化,由于锻炼身体是首要的致心律失常因素,因此在患有DM1的年轻患者进行身体锻炼测试时行EK G监护是必要的。青年肌强直性营养不良Ⅰ型患者的严重心律失常@Bassez G. @Lazarus A. @Desguerre I. @D. Duboc,$Department of Cardiology, H.opital Cochin, 27 rue du Faubourg Saint Jacques, 75679 Paris Cedex 14, France Dr @姚…     

白内障与强直性肌营养不良的诊断关系

强直性肌营养不良 (DM)是成人中较多见的肌营养不良 ,有遗传性 ,发病率为 1/ 70 0 0～ 1/ 80 0 0 ,常见症状是进行性肌无力、肌萎缩及肌强直。此病也可使多系统受累 ,如发生白内障、心律不齐等。我们在 1996～ 1998年研究了 3个 DM家系共 37名受检者中 2 5例符合 DM临床诊断标准的患者。1　材料和方法1.1　受检者　 3个 DM家系共 37名受检者 ,其中 13人有典型的 DM症状与体征 ,符合 DM临床诊断标准 ;另有 12人有部分或轻度 DM症状与体征 ,这 12例中 7例呈白色或蓝色点状白内障 ,无视力障碍。 3个家系无 DM症状及体征的个体有 12人。1…     

以早发糖尿病首诊的强直性肌营养不良1型1例

强直性肌营养不良1型(myotonic dystrophy type 1,DM1)为罕见的常染色体显性遗传性疾病。中南大学湘雅三医院内分泌科收治1例以早发糖尿病和肌力下降为表现的DM1患者。采集患者外周血提取DNA进行基因检测,发现患者强直性肌营养不良蛋白激酶(dystrophia myotonica protein kinase,DMPK)基因的3’-非翻译区(3’-untranslated region,3’-UTR)的三核苷酸CTG重复大于100次,DM1诊断明确。对于合并肌肉症状等多系统异常的糖尿病患者,应当注意DM1这一罕见疾病的筛查。     

应用PCR技术检测假肥大型肌营养不良

目的应用PCR技术检测假肥大型肌营养不良(DMD/BMD)基因缺失和杂合子。方法根据DMD/BMD外显子缺失的多发位点,建立一个多重PCR体系,在不同的PCR条件下对23例DMD/BMD患者及其家系57名可疑女性携带者进行多重缺失的筛选、单链构象多态性(SSCP)/异源双链分析、连锁标记分析、限制性片段长度多态性(RFLPs)分析及微卫星分析。结果23例先证者中有14例为基因缺失,2例为基因重复,40例家系中女性亲属为杂合型。结论利用此PCR体系,可准确地检测出DMD/BMD的基因突变,可靠地筛选携带者并对其家系进行正确的分析。     

Two－step multiplex polymerase chain reaction for gene diagnosis of progressive pseudohypertrophic muscular dystrophy

Ｔｗｏ－ｓｔｅｐｍｕｌｔｉｐｌｅｘｐｏｌｙｍｅｒａｓｅｃｈａｉｎｒｅａｃｔｉｏｎｆｏｒｇｅｎｅｄｉａｇｎｏｓｉｓｏｆｐｒｏｇｒｅｓｓｉｖｅｐｓｅｕｄｏｈｙｐｅｒｔｒｏｐｈｉｃｍｕｓｃｕｌａｒｄｙｓｔｒｏｐｈｙ￥ＴａｎＱｉｎｇｒｏｎｇ（谭庆荣）；ＷｕＢ...     

强直性肌营养不良症一家系临床分析

目的探讨强直性肌营养不良症（DM）的临床特点。方法对我院2012年收治的1例确诊的DM患者及其家系中另2例DM患者的临床资料进行分析。结果 3例患者,男性1例,女性2例,均隐袭起病,以肌强直、肌无力、肌萎缩为主要表现,伴有内分泌和生殖系统、心脏、眼睛等多系统损害,肌强直放电和肌源性损害是DM的主要肌电图特征。结论 DM是一组以肌无力、肌强直和肌萎缩为特点的多系统受累的常染色体显性遗传病,临床表现复杂多样,阳性家族史和肌电图对诊断有重要意义。     

强直性肌营养不良8例临床、电生理及病理特点

目的:探讨强直性肌营养不良（DM）临床、电生理和病理特点。方法:回顾性分析8例DM患者临床、电生理和病理资料。结果:8例患者均有不同程度肌无力、肌强直或肌萎缩症状。部分患者伴脱发、智力障碍、月经不规律等骨骼肌外症状。3例无明确家族史。7例患者肌电图检查可见肌强直电位发放。肌活检光镜下可见肌纤维大小不等、核内移与肌膜核增多、核聚集现象及核链形成等,1例患者可见肌浆块。还原型辅酶Ⅰ四唑氮还原酶染色可见7例肌纤维萎缩,其中5例以Ⅰ型肌纤维萎缩为主。结论:肌电图及骨骼肌活检病理检查对该病诊断有重要价值,结合具体病例的起病形式、骨骼肌及多系统受累特点等有助于对DM进一步分型;应注意遗传早现现象所致的“无家族遗传史”假象。     

DNA analysis in a suspected individual with myotonic dystrophy family history and her abortus

Objective To observe trinucleotide repeat number, (CTG)n in the 3’-untranslated region of the myotonic protein kinase (MTPK) gene in a clinically suspected woman with myotonic dystrophy (DM) family history and her abortus, in order to confirm the necessity of exerting antenatal examination in patients or suspected individuals with DM family history. Methods Long Expand TM Template polymerase chain reaction (PCR) system was used to analyze CTG trinucleotide repeat numbers located in the 3’ untranslated region of MTPK on chromosome 19q13.2-3 in both peripheral white cells and muscles of the suspected mother and the other two DM patients in the family. The tissues of her abortus and blood of a health woman were detected, too. Results CTG repeats in both peripheral white cells and muscles of the suspected mother and the tissue of abortus were higher than normal range of CTG repeat number. There is no significant difference between blood and muscle samples. High CTG repeats were detected in blood and muscles of the typical DM members in the family, but in the blood sample of control, CTG repeats is normal. Conclusion CTG trinucleotide analyses and antenatal examination should be done in pregnant with a DM family history, in order to reduce the birth rate of DM offspring.     

强直性肌营养不良症的临床、家系和遗传特征分析

目的:分析强直性肌营养不良症(myotonic dystrophy or dystrophia myotonia,DM)的临床、家系和遗传特征,提高对强直性肌营养不良症的认识,为DM的基因诊断和产前诊断提供分子依据.方法:收集2个DM家系,对其临床进行详细分析,用片段分析法对2个DM家系内的4例患者和1个家系成员DM1...     

强直性肌营养不良基因CTG 复数下SEP,MEP对比分析

目的 探讨强直性肌营养不良（ＤＭ）患者及其家系成员基因ＣＴＧ重复数的变化与体感诱发电位（ＳＥＰ）、经颅刺激运动诱发电位（ＭＥＰ）的比较。方法 用聚合酶链反应（ＰＣＲ）扩增及ＤＮＡ杂交法对５例临床诊断ＤＭ患者及其中３个家系１６名成员进行ＤＭ基因ＣＴＧ重复数和ＳＥＰ、ＭＥＰ测定。结果 １０名正常人ＣＴＧ重复 １９～３０个,ＳＥＰ、ＭＥＰ正常和例。ＤＭ患者ＣＴＧ重复数均在８０个以上,其中２例在１６０５个     

三重聚合酶链反应快速诊断耐甲氧西林葡萄球菌感染

目的建立一种能快速有效地对葡萄球菌感染进行病原体诊断的方法.方法利用三重聚合酶链反应技术(Triplex PCR)同时检测葡萄球菌特异性16S rRNA 基因、金黄色葡萄球菌特异性Sa442基因和编码青霉素结合蛋白(PBP2a)的mecA基因.结果 84株葡萄球菌的16S rRNA 基因100%阳性,其中33株金黄色葡萄球菌的Sa442基因100%阳性,mecA基因阳性率为78.8%.51株凝固酶阴性葡萄球菌的Sa442基因100%阴性,mecA基因阳性率为76.5%.30株其他临床常见菌16S rRNA、Sa442、mecA基因100%阴性.结论该技术具有简便、快速、特异性强等特点,是一种非常有效的耐甲氧西林葡萄球菌感染快速诊断方法.     

Clinical,radiological and molecular diagnosis correlation in serum samples from patients with osteoarticular tuberculosis

ObjectiveTo assess the role of polymerase chain reaction (PCR) in serum samples, in the diagnosis of osteoarticular tuberculosis (OTB) in a setting where only clinical and imaging diagnoses determine the treatment.MethodsA total of 44 consecutive serum specimens were collected from clinically suspected OTB patients, based on clinical and radiological [X-ray or magnetic resonance imaging/computed tomography] features. They were screened by in-house nested PCR. In addition, a few specimens were examined by Gram stain, acid-fast bacilli stain, histopathology and routine bacterial culture. A total of 39 specimens were collected from patients suffering from other bone diseases of nontuberculous origin and included as negative controls.ResultsOf the 44 clinically suspected OTB patients, in-house nested PCR was positive in 40 (91%) cases; PCR was negative in 38 (97%) negative controls. Sensitivity and specificity of our in-house nested PCR was 90.9% and 97.4%, respectively. The PCR report was available within 48 h. It was possible to standardize serum PCR technique and in positive cases, a good correlation was observed in terms of an adequate treatment response.ConclusionsNested PCR in serum samples is a rapid, highly sensitive and specific modality for OTB detection. PCR should be performed in addition to clinical evaluation, imaging studies, acid-fast bacilli staining, culture and histopathology diagnosis, if possible.     

上海地区91名正常人强直性肌营养不良基因CTG重复数测定

目的：研究上海地区正常人强直性肌营养不良（ＤＭ）基因中三核苷酸ＣＴＧ重复数的值。方法：用ＰＣＲ扩增及Ｓｏｕｔｈｅｒｎ杂交法检测９１名正常人ＤＭ基因的ＣＴＧ数。结果：测出７个等位基因，其ＣＴＧ重复数分别为５，１１，１３，１５，１９，２３及３０个，其中以１３的频率最高（８０．２１％）。结论：上海地区９１名正常人的结果与日本人群相似，与欧洲人群及中国成都人群不同。