The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this p...The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The number of chromosomal units and chiasmata count per bivalent were established and a hierarchical cluster analysis of the individuals was performed. The relationship of the seminogram and the karyotype over recombination were evaluated using Poisson regression models. Results obtained in this study show a significant percentage of infertile individuals with altered meiotic behavior, mostly specified as a reduction in chiasmata count in medium and large chromosomes, the presence of univalents, and the observation of tetraploid metaphases. Moreover, the number and the type of anomalies were found to be different between cells of the same individual, suggesting the coexistence of cell lines with normal meiotic behavior and cell lines with abnormalities. In addition, chromosomal abnormalities in metaphase I are significantly associated with oligozoospermia and/or polymorphic karyotype variants.展开更多
Nowadays the role of genetic findings in determining the diagnosis,therapy and prognosis of acute myeloid leukemia(AML) has become more valuable.To improve and validate the detection of clonal chromosomal aberrations ...Nowadays the role of genetic findings in determining the diagnosis,therapy and prognosis of acute myeloid leukemia(AML) has become more valuable.To improve and validate the detection of clonal chromosomal aberrations in leukemia,we designed a combined application of karyotyping with multiplex reverse transcription-polymerase chain reaction(RT-PCR) and fluorescence in situ hybridization(FISH),and addressed the expression and distribution of fusion genes among the subtypes of Chinese adult patients with de novo AML.Multiplex RT-PCR assays were performed on 477 samples from newly diagnosed AML patients,and cytogenetic data were obtained from 373 of them by R or G banding techniques and those in some cases were confirmed by FISH.The PCR products in some suspected cases were tested by two-directional sequencing.The results showed that except unqualified samples,fusion genes were detected by multiplex RT-PCR in 211 of 474 patients(44.51%),including AML1-ETO,CBFβ-MYH11,PML-RARα,PLZF-RARα,NPM-RARα,MLL rearrangements,BCR-ABL,DEK-CAN,SET-CAN,TEL-PDGFR,TLS-ERG,AML1-MDS1(EVI-1).In 373 patients,who took both multiplex RT-PCR and karyotype analysis,the detection rate of chromosomal aberrations by using multiplex RT-PCR and karyotyping was 160/373(42.89%) and 179/373(47.98%) respectively,and the combination could optimize the detection rate of clonal genetic abnormalities to 216/373(57.90%).The PCR results from 11 cases 'normal' in karyotyping but abnormal in RT-PCR for MLL rearrangements were confirmed by two-directional sequencing.It is concluded that karyotype studies remain the cornerstone for genetic testing;conventional cytogenetics and molecular-based methods are complementary tests for the detection of clonal genetic aberrations in AML,especially for the cryptic or submicroscopic aberrations.Once a genetic marker has been identified by combined analysis,it could be used to monitor residual disease during/after chemotherapy,by quantitative RT-PCR and/or FISH.展开更多
Endoscopy has important roles in the management of primary sclerosing cholangitis(PSC),ranging fromnarrowing down the differential diagnoses,screening for complications,determining prognosis and therapy.While the need...Endoscopy has important roles in the management of primary sclerosing cholangitis(PSC),ranging fromnarrowing down the differential diagnoses,screening for complications,determining prognosis and therapy.While the need for a diagnostic endoscopic retrograde cholangiopancreatography(ERCP)may be obviated by a positive magnetic resonance cholangiopancreatography(MRCP),a negative MRCP does not exclude PSC and may therefore necessitate an ERCP,which is traditionally regarded as the gold standard.In this editorial we have not covered the endoscopic management of inflammatory bowel disease in the context of PSC nor of endoscopic surveil ance and treatment of portal hypertension complicating PSC.展开更多
不依赖于纯培养的分子生物技术已广泛应用于环境微生物的研究.综述了近年来在荧光原位杂交技术(Fluorescent in situ hybridization,FISH)和聚合酶链式反应技术(Polymerasechainreaction,PCR)基础上发展起来的几种新分子生物技术的基本...不依赖于纯培养的分子生物技术已广泛应用于环境微生物的研究.综述了近年来在荧光原位杂交技术(Fluorescent in situ hybridization,FISH)和聚合酶链式反应技术(Polymerasechainreaction,PCR)基础上发展起来的几种新分子生物技术的基本原理,包括FISH-MAR、FISH-microelectrodes、Clone-FISH、SIP、PCR-DGGE-cloning-sequencing、PCR-T-RFLP、Real-time fluorescent quantitative PCR和RT-PCR,以及其在污水生物处理系统内硝化菌群研究领域中的应用现状.通过这些分子生物技术,可以识别污水生物处理系统内的硝化菌群;建立硝化菌群动态变化与工艺运行参数之间的相关关系;从微生物学角度对系统运行状态给予最直接、最可靠的分析与证明,为污水生物处理系统的长期稳定运行奠定理论基础.最后对该领域的未来发展进行了展望.展开更多
文摘The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The number of chromosomal units and chiasmata count per bivalent were established and a hierarchical cluster analysis of the individuals was performed. The relationship of the seminogram and the karyotype over recombination were evaluated using Poisson regression models. Results obtained in this study show a significant percentage of infertile individuals with altered meiotic behavior, mostly specified as a reduction in chiasmata count in medium and large chromosomes, the presence of univalents, and the observation of tetraploid metaphases. Moreover, the number and the type of anomalies were found to be different between cells of the same individual, suggesting the coexistence of cell lines with normal meiotic behavior and cell lines with abnormalities. In addition, chromosomal abnormalities in metaphase I are significantly associated with oligozoospermia and/or polymorphic karyotype variants.
文摘Nowadays the role of genetic findings in determining the diagnosis,therapy and prognosis of acute myeloid leukemia(AML) has become more valuable.To improve and validate the detection of clonal chromosomal aberrations in leukemia,we designed a combined application of karyotyping with multiplex reverse transcription-polymerase chain reaction(RT-PCR) and fluorescence in situ hybridization(FISH),and addressed the expression and distribution of fusion genes among the subtypes of Chinese adult patients with de novo AML.Multiplex RT-PCR assays were performed on 477 samples from newly diagnosed AML patients,and cytogenetic data were obtained from 373 of them by R or G banding techniques and those in some cases were confirmed by FISH.The PCR products in some suspected cases were tested by two-directional sequencing.The results showed that except unqualified samples,fusion genes were detected by multiplex RT-PCR in 211 of 474 patients(44.51%),including AML1-ETO,CBFβ-MYH11,PML-RARα,PLZF-RARα,NPM-RARα,MLL rearrangements,BCR-ABL,DEK-CAN,SET-CAN,TEL-PDGFR,TLS-ERG,AML1-MDS1(EVI-1).In 373 patients,who took both multiplex RT-PCR and karyotype analysis,the detection rate of chromosomal aberrations by using multiplex RT-PCR and karyotyping was 160/373(42.89%) and 179/373(47.98%) respectively,and the combination could optimize the detection rate of clonal genetic abnormalities to 216/373(57.90%).The PCR results from 11 cases 'normal' in karyotyping but abnormal in RT-PCR for MLL rearrangements were confirmed by two-directional sequencing.It is concluded that karyotype studies remain the cornerstone for genetic testing;conventional cytogenetics and molecular-based methods are complementary tests for the detection of clonal genetic aberrations in AML,especially for the cryptic or submicroscopic aberrations.Once a genetic marker has been identified by combined analysis,it could be used to monitor residual disease during/after chemotherapy,by quantitative RT-PCR and/or FISH.
文摘Endoscopy has important roles in the management of primary sclerosing cholangitis(PSC),ranging fromnarrowing down the differential diagnoses,screening for complications,determining prognosis and therapy.While the need for a diagnostic endoscopic retrograde cholangiopancreatography(ERCP)may be obviated by a positive magnetic resonance cholangiopancreatography(MRCP),a negative MRCP does not exclude PSC and may therefore necessitate an ERCP,which is traditionally regarded as the gold standard.In this editorial we have not covered the endoscopic management of inflammatory bowel disease in the context of PSC nor of endoscopic surveil ance and treatment of portal hypertension complicating PSC.
