Emerging new races of wheat stem rust(Puccinia graminis f.sp.tritici)are threatening global wheat(Triticum aestivum L.)production.Host resistance is the most effective and environmentally friendly method of controllin...Emerging new races of wheat stem rust(Puccinia graminis f.sp.tritici)are threatening global wheat(Triticum aestivum L.)production.Host resistance is the most effective and environmentally friendly method of controlling stem rust.The stem rust resistance gene Sr59 was previously identified within a T2DS 2RL wheat-rye whole arm translocation,providing broad-spectrum resistance to various stem rust races.Seedling evaluation,molecular marker analysis,and cytogenetic studies identified wheat-rye introgression line#284 containing a new translocation chromosome T2BL 2BS-2RL.This line has demonstrated broad-spectrum resistance to stem rust at the seedling stage.Seedling evaluation and cytogenetic analysis of three backcross populations between the line#284 and the adapted cultivars SLU-Elite,Navruz,and Linkert confirmed that Sr59 is located within the short distal 2RL translocation.This study aimed physical mapping of Sr59 in the 2RL introgression segment and develop a robust molecular marker for marker-assisted selection.Using genotyping-by-sequencing(GBS),GBS-derived SNPs were aligned with full-length annotated rye nucleotide-binding leucine-rich repeat(NLR)genes in the parental lines CS ph1b,SLU238,SLU-Elite,Navruz,and Linkert,as well as in 33 BC4F5progeny.Four NLR genes were identified on the 2R chromosome,with Chr2R_NLR_60 being tightly linked to the Sr59resistance gene.In-silico functional enrichment analysis of the translocated 2RL region(25,681,915 bp)identified 223 genes,with seven candidate genes associated with plant disease resistance and three linked to agronomic performance,contributing to oxidative stress response,protein kinase activity,and cellular homeostasis.These findings facilitate a better understanding of the genetic basis of stem rust resistance provided by Sr59.展开更多
In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: th...In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: the conformity rate of cytomorphologic/cytochemical classification with MIC classification was 90.8%. For ALL, the conformity rate of immunologic classification with MIC classification was 95.6% while it was only 70.8% for AML. Of the 48 AML, 10 expressed lymphoid-lineage-associated antigens and 8 of 43 ALL expressed myeloid-lineage-associated antigens. Seven cases were diagnosed as hybrid acute leukemia according to Catovsky's scoring criterion. The clonal chromosomal aberrations were found in 70 cases, of them 46 cases showed characteristic changes including t(9; 22), t(4; 11), t(11; 14), t(8; 12), t(8; 14), 6q-, 9p- and t(15; 17), t(8; 21), inv(16), etc. These data suggested that MIC classification of acute leukemias could provide more diagnostic and biologic information than traditional FAB classification.展开更多
Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal(GI)tract and are thought to arise from precursors of the interstitial cells of Cajal.GISTs can arise anywhere in the...Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal(GI)tract and are thought to arise from precursors of the interstitial cells of Cajal.GISTs can arise anywhere in the GI tract,but most commonly originate from the stomach and small intestine.The majority of GISTs occur as a result of activating mutations in two receptor protein tyrosine kinases:KIT and/or platelet-derived growth factor receptor-α.Mutational analyses allow for predicting patient prognosis and treatment response.Clinical presentations can vary from no symptoms,typical in the case of small incidentally found tumors,to GI bleeding,abdominal discomfort,and ulcer-related symptoms when the tumor is enlarged.Imaging plays a critical role in the diagnosis and management of these tumors with multiphasic computed tomography serving as the imaging modality of choice.Magnetic resonance imaging and positron emission tomography-computed tomography can serve as imaging adjuncts in lesion characterization,especially with liver metastases,and subsequent staging and assessment for treatment response or recurrence.Surgical resection is the preferred management for small GISTs,while tyrosine kinase inhibitors−imatinib mesylate and sunitinib malate−serve as crucial molecular-targeted therapies for locally advanced and metastatic GISTs.This review article highlights the clinical presentation,pathology and molecular cytogenetics,imaging features,and current management of GISTs.展开更多
Mutations of fins-like tyrosine kinase 3 （FLT3） and nucleophosmin （NPM1） exon 12 genes are the most common abnormalities in adult acute myeloid leukemia （AML） with normal cytogenetics. To assess the prognostic i...Mutations of fins-like tyrosine kinase 3 （FLT3） and nucleophosmin （NPM1） exon 12 genes are the most common abnormalities in adult acute myeloid leukemia （AML） with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction （PCR） and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication （FLT3/ITD） and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 （19.7%） of 76 subjects, and NPM1 mutation in 20 （26.3%） subjects. Seven （9.2%） cases were positive for both FLT3/ITD and NPM1 mutations Significantly more FLT3/ITD aberration was detected in subjects with French-American-British （FAB） M1 （42.8%）. NPM1 mutation was frequently detected in subjects with M5 （47.1%） and infrequently in subjects with M2 （11.1%）. FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITD- positive group had a lower complete remission （CR） rate （53.3% vs. 83.6%）. Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival （OS） and relapse-free survival （RFS）. The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group （P=0.069）. Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD.展开更多
In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine（HAM） with that of high-dose cytarabine alone（Hi DAC） as consolidation regimens in non-acute promyelocytic leu...In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine（HAM） with that of high-dose cytarabine alone（Hi DAC） as consolidation regimens in non-acute promyelocytic leukemia（APL） acute myeloid leukemia patients with favorable and intermediate cytogenetics.A total of 62 patients from Shenzhen People＇s Hospital were enrolled in this study.All patients enrolled received standard induction chemotherapy and achieved the first complete remission（CR1）.In these patients,24 received Hi DAC and 38 received HAM as consolidation.The median relapse free survival（RFS） and overall survival（OS） were similar between these two consolidation regimens.Even in subgroup analysis according to risk stratification,the combination regimen conferred no benefit in longterm outcome in patients with favorable or intermediate cytogenetics.However,in patients receiving HAM regimen,the lowest neutrophil count was lower,neutropenic period longer,neutropenic fever rate higher,and more platelet transfusion support was required.HAM group also tended to have higher rate of sepsis than Hi DAC group.According to our results,we suggest that combination treatment with mitoxantrone and intermediate-dose cytarabine has limited value as compared to Hi DAC,even in young non-APL AML patients with favorable and intermediate cytogenetics.展开更多
This paper reviews research advances in cytogenetics and germplasm innovation in Brassica allopolyploids, particularly oilseed rape（Brassica napus）, in China. Three naturally evolved Brassica allotetraploid species ...This paper reviews research advances in cytogenetics and germplasm innovation in Brassica allopolyploids, particularly oilseed rape（Brassica napus）, in China. Three naturally evolved Brassica allotetraploid species are cytologically stable but tend to preferentially lose several chromosomes from one subgenome when induced by alien chromosome elimination. A-subgenome is extracted from B. napus, and the ancestral Brassica rapa was restituted after the total loss of C-subgenome chromosomes. Genome-wide genetic and epigenetic alterations were observed in both natural and synthetic Brassica allotetraploids. B. napus was subjected to extensive interspecific hybridization with landraces of B. rapa and Brassica juncea, which exhibit abundant phenotype variations, to widen the genetic diversity in breeding and select numerous elite germplasm resources and cultivars; these cultivars include the representative Zhongyou 821, which also parented numerous other varieties. Novel B. napus genotypes were obtained using Brassica trigenomic hybrids and allohexaploids（2 n=54, AABBCC） by combining subgenomes from extant allotetraploids and diploids as bridge. Alien additions, substitutions, and translocations of the B. napus genome were developed by intergeneric/intertribal sexual and somatic hybridizations with several crucifers. Furthermore, mitochondrial DNA recombination promoted the production of novel cytoplasmic male sterile lines.展开更多
Shrimps of genus Artemia are the inhabitants of continental and marine waters with salinity of 70 to 350 g/l and above.Artemia is able to survive in the conditions in which other animals cannot exist.This is due to ad...Shrimps of genus Artemia are the inhabitants of continental and marine waters with salinity of 70 to 350 g/l and above.Artemia is able to survive in the conditions in which other animals cannot exist.This is due to adaptations:effective osmoregulation system,the ability to synthesize of respiratory pigment(hemoglobin)and diapauses cysts(Litvinenko at.al.,2009).Cysts of this展开更多
The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, ...The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.展开更多
The Saccharum genus comprises species with large and variable chromosome numbers, leading to challenges in genomic studies and breeding improvement. Cytogenetics, including classical and molecular approaches, has play...The Saccharum genus comprises species with large and variable chromosome numbers, leading to challenges in genomic studies and breeding improvement. Cytogenetics, including classical and molecular approaches, has played a central role in deciphering the genome structure, classification, and evolution of the genus Saccharum. The application of fluorescence in situ hybridization using oligonucleotide probes significantly improved our understanding of the complex genomes of Saccharum species. This paper reviews the application and progress of cytogenetic techniques in Saccharum. Future applications of cytogenetics are discussed, as they could benefit both genomic studies and breeding of sugarcane as well as other plants with complex genomes.展开更多
BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To deve...BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To develop reliable prenatal diagnostic recommendations through integrated analysis of the clinical characteristics of fetuses with PLSVC.METHODS Cases of PLSVC diagnosed using prenatal ultrasonography between September 2019 and November 2022 were retrospectively studied.The clinical characteristics of the pregnant women,ultrasonic imaging information,gestational age at diagnosis,pregnancy outcomes,and amniocentesis results were summarized and analyzed using categorical statistics and the chi-square test or Fisher’s exact test.RESULTS Of the 97 cases diagnosed by prenatal ultrasound,49(50.5%)had isolated PLSVC and 48(49.5%)had other structural abnormalities.The differences in pregnancy outcomes and amniocentesis conditions between the two groups were statistically significant(P<0.05).No significant differences were identified between the two groups in terms of advanced maternal age and gestational age(P>0.05).According to the results of the classification statistics,the most common intrac-ardiac abnormality was a ventricular septal defect and the most common extrac-ardiac abnormality was a single umbilical artery.In the subgroup analysis,the concurrent combination of intra-and extracardiac structural abnormalities was a risk factor for adverse pregnancy outcomes(odds ratio>1,P<0.05).Additional-ly,all abnormal cytogenetic findings on amniocentesis were observed in the comorbidity group.One case was diagnosed with 21-trisomy and six cases was diagnosed with chromosome segment duplication.CONCLUSION Examination for other structural abnormalities is strongly recommended when PLSVC is diagnosed.Poorer pregnancy outcomes and increased amniocentesis were observed in PLSVC cases with other structural abnor-malities.Amniotic fluid cytogenetics of fetuses is recommended for PLSVC with other structural abnormalities.展开更多
Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the populati...Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the population in numerous countries. The aim of this literature review is to contribute to the popularization of cytogenetics. Methodology: This literature review is a text which contains, analyzes and organizes several referenced articles in French and English which have been selected from electronic databases. It provides a documentation of various activities and progress that have an interest in the field of cytogenetics. Results: In the context of cytogenetics, it is necessary to establish partnerships to strengthen infrastructures and produce quality results. The setting up of cytogenetic services and incentives for participatory research give space to the community in the production of knowledge and innovation, alongside researchers. It’s important to create biobanks, where samples of substances from the human body are collected for use in research into the causes and mechanisms of many diseases and their treatments. To carry out clinical trials aims at assessing the effectiveness of a therapeutic strategy, as is currently the case with the use of cytogenetic tests (karyotype, FISH, etc.) as tool of therapeutic decision and prognostic in cancer biology. The monitoring of the ethic of cytogenetic research projects allows protecting rights, security and welfare of subjects. To solve issues of data management and analysis such as the obstacle to the acquisition of tools and the insufficiency in the training of researchers. Furthermore, dissemination of research results will lead to better understanding of research results, greater public engagement in science and greater social respect for research. Conclusion: Cytogenetics can benefit from these actions such as the development of its research infrastructures and training programs for its workforce as well as the development of its clinical care. All this would have an impact on the population’s state of health.展开更多
基金the financial support from FORMAS(2018-01029)the Swedish Institute(01132-2022)for supporting Ivan Motsnyi’s visit and research at Swedish University of Agricultural Sciences。
文摘Emerging new races of wheat stem rust(Puccinia graminis f.sp.tritici)are threatening global wheat(Triticum aestivum L.)production.Host resistance is the most effective and environmentally friendly method of controlling stem rust.The stem rust resistance gene Sr59 was previously identified within a T2DS 2RL wheat-rye whole arm translocation,providing broad-spectrum resistance to various stem rust races.Seedling evaluation,molecular marker analysis,and cytogenetic studies identified wheat-rye introgression line#284 containing a new translocation chromosome T2BL 2BS-2RL.This line has demonstrated broad-spectrum resistance to stem rust at the seedling stage.Seedling evaluation and cytogenetic analysis of three backcross populations between the line#284 and the adapted cultivars SLU-Elite,Navruz,and Linkert confirmed that Sr59 is located within the short distal 2RL translocation.This study aimed physical mapping of Sr59 in the 2RL introgression segment and develop a robust molecular marker for marker-assisted selection.Using genotyping-by-sequencing(GBS),GBS-derived SNPs were aligned with full-length annotated rye nucleotide-binding leucine-rich repeat(NLR)genes in the parental lines CS ph1b,SLU238,SLU-Elite,Navruz,and Linkert,as well as in 33 BC4F5progeny.Four NLR genes were identified on the 2R chromosome,with Chr2R_NLR_60 being tightly linked to the Sr59resistance gene.In-silico functional enrichment analysis of the translocated 2RL region(25,681,915 bp)identified 223 genes,with seven candidate genes associated with plant disease resistance and three linked to agronomic performance,contributing to oxidative stress response,protein kinase activity,and cellular homeostasis.These findings facilitate a better understanding of the genetic basis of stem rust resistance provided by Sr59.
文摘In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: the conformity rate of cytomorphologic/cytochemical classification with MIC classification was 90.8%. For ALL, the conformity rate of immunologic classification with MIC classification was 95.6% while it was only 70.8% for AML. Of the 48 AML, 10 expressed lymphoid-lineage-associated antigens and 8 of 43 ALL expressed myeloid-lineage-associated antigens. Seven cases were diagnosed as hybrid acute leukemia according to Catovsky's scoring criterion. The clonal chromosomal aberrations were found in 70 cases, of them 46 cases showed characteristic changes including t(9; 22), t(4; 11), t(11; 14), t(8; 12), t(8; 14), 6q-, 9p- and t(15; 17), t(8; 21), inv(16), etc. These data suggested that MIC classification of acute leukemias could provide more diagnostic and biologic information than traditional FAB classification.
文摘Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal(GI)tract and are thought to arise from precursors of the interstitial cells of Cajal.GISTs can arise anywhere in the GI tract,but most commonly originate from the stomach and small intestine.The majority of GISTs occur as a result of activating mutations in two receptor protein tyrosine kinases:KIT and/or platelet-derived growth factor receptor-α.Mutational analyses allow for predicting patient prognosis and treatment response.Clinical presentations can vary from no symptoms,typical in the case of small incidentally found tumors,to GI bleeding,abdominal discomfort,and ulcer-related symptoms when the tumor is enlarged.Imaging plays a critical role in the diagnosis and management of these tumors with multiphasic computed tomography serving as the imaging modality of choice.Magnetic resonance imaging and positron emission tomography-computed tomography can serve as imaging adjuncts in lesion characterization,especially with liver metastases,and subsequent staging and assessment for treatment response or recurrence.Surgical resection is the preferred management for small GISTs,while tyrosine kinase inhibitors−imatinib mesylate and sunitinib malate−serve as crucial molecular-targeted therapies for locally advanced and metastatic GISTs.This review article highlights the clinical presentation,pathology and molecular cytogenetics,imaging features,and current management of GISTs.
文摘Mutations of fins-like tyrosine kinase 3 （FLT3） and nucleophosmin （NPM1） exon 12 genes are the most common abnormalities in adult acute myeloid leukemia （AML） with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction （PCR） and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication （FLT3/ITD） and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 （19.7%） of 76 subjects, and NPM1 mutation in 20 （26.3%） subjects. Seven （9.2%） cases were positive for both FLT3/ITD and NPM1 mutations Significantly more FLT3/ITD aberration was detected in subjects with French-American-British （FAB） M1 （42.8%）. NPM1 mutation was frequently detected in subjects with M5 （47.1%） and infrequently in subjects with M2 （11.1%）. FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITD- positive group had a lower complete remission （CR） rate （53.3% vs. 83.6%）. Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival （OS） and relapse-free survival （RFS）. The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group （P=0.069）. Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD.
基金supported by grants from the Basic Research Project of Shenzhen Science and Technology Program(No.JYCJ20150403101146307,No.JCYJ20150403101028195 and No.JCYJ20160422145031770)the National Natural Science Foundation of China(No.81600168)
文摘In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine（HAM） with that of high-dose cytarabine alone（Hi DAC） as consolidation regimens in non-acute promyelocytic leukemia（APL） acute myeloid leukemia patients with favorable and intermediate cytogenetics.A total of 62 patients from Shenzhen People＇s Hospital were enrolled in this study.All patients enrolled received standard induction chemotherapy and achieved the first complete remission（CR1）.In these patients,24 received Hi DAC and 38 received HAM as consolidation.The median relapse free survival（RFS） and overall survival（OS） were similar between these two consolidation regimens.Even in subgroup analysis according to risk stratification,the combination regimen conferred no benefit in longterm outcome in patients with favorable or intermediate cytogenetics.However,in patients receiving HAM regimen,the lowest neutrophil count was lower,neutropenic period longer,neutropenic fever rate higher,and more platelet transfusion support was required.HAM group also tended to have higher rate of sepsis than Hi DAC group.According to our results,we suggest that combination treatment with mitoxantrone and intermediate-dose cytarabine has limited value as compared to Hi DAC,even in young non-APL AML patients with favorable and intermediate cytogenetics.
基金supported by the National Key Research and Development Program of China (2016YFD0102000,2016YFD0101000)the National Natural Science Foundation of China (31330057)Yangzhou University for Excellent Talent Support Program,China
文摘This paper reviews research advances in cytogenetics and germplasm innovation in Brassica allopolyploids, particularly oilseed rape（Brassica napus）, in China. Three naturally evolved Brassica allotetraploid species are cytologically stable but tend to preferentially lose several chromosomes from one subgenome when induced by alien chromosome elimination. A-subgenome is extracted from B. napus, and the ancestral Brassica rapa was restituted after the total loss of C-subgenome chromosomes. Genome-wide genetic and epigenetic alterations were observed in both natural and synthetic Brassica allotetraploids. B. napus was subjected to extensive interspecific hybridization with landraces of B. rapa and Brassica juncea, which exhibit abundant phenotype variations, to widen the genetic diversity in breeding and select numerous elite germplasm resources and cultivars; these cultivars include the representative Zhongyou 821, which also parented numerous other varieties. Novel B. napus genotypes were obtained using Brassica trigenomic hybrids and allohexaploids（2 n=54, AABBCC） by combining subgenomes from extant allotetraploids and diploids as bridge. Alien additions, substitutions, and translocations of the B. napus genome were developed by intergeneric/intertribal sexual and somatic hybridizations with several crucifers. Furthermore, mitochondrial DNA recombination promoted the production of novel cytoplasmic male sterile lines.
文摘Shrimps of genus Artemia are the inhabitants of continental and marine waters with salinity of 70 to 350 g/l and above.Artemia is able to survive in the conditions in which other animals cannot exist.This is due to adaptations:effective osmoregulation system,the ability to synthesize of respiratory pigment(hemoglobin)and diapauses cysts(Litvinenko at.al.,2009).Cysts of this
文摘The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.
基金supported by the Startup Foundation from Nantong University (03083074)the National Natural Science Foundation of China (32070544)。
文摘The Saccharum genus comprises species with large and variable chromosome numbers, leading to challenges in genomic studies and breeding improvement. Cytogenetics, including classical and molecular approaches, has played a central role in deciphering the genome structure, classification, and evolution of the genus Saccharum. The application of fluorescence in situ hybridization using oligonucleotide probes significantly improved our understanding of the complex genomes of Saccharum species. This paper reviews the application and progress of cytogenetic techniques in Saccharum. Future applications of cytogenetics are discussed, as they could benefit both genomic studies and breeding of sugarcane as well as other plants with complex genomes.
文摘BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To develop reliable prenatal diagnostic recommendations through integrated analysis of the clinical characteristics of fetuses with PLSVC.METHODS Cases of PLSVC diagnosed using prenatal ultrasonography between September 2019 and November 2022 were retrospectively studied.The clinical characteristics of the pregnant women,ultrasonic imaging information,gestational age at diagnosis,pregnancy outcomes,and amniocentesis results were summarized and analyzed using categorical statistics and the chi-square test or Fisher’s exact test.RESULTS Of the 97 cases diagnosed by prenatal ultrasound,49(50.5%)had isolated PLSVC and 48(49.5%)had other structural abnormalities.The differences in pregnancy outcomes and amniocentesis conditions between the two groups were statistically significant(P<0.05).No significant differences were identified between the two groups in terms of advanced maternal age and gestational age(P>0.05).According to the results of the classification statistics,the most common intrac-ardiac abnormality was a ventricular septal defect and the most common extrac-ardiac abnormality was a single umbilical artery.In the subgroup analysis,the concurrent combination of intra-and extracardiac structural abnormalities was a risk factor for adverse pregnancy outcomes(odds ratio>1,P<0.05).Additional-ly,all abnormal cytogenetic findings on amniocentesis were observed in the comorbidity group.One case was diagnosed with 21-trisomy and six cases was diagnosed with chromosome segment duplication.CONCLUSION Examination for other structural abnormalities is strongly recommended when PLSVC is diagnosed.Poorer pregnancy outcomes and increased amniocentesis were observed in PLSVC cases with other structural abnor-malities.Amniotic fluid cytogenetics of fetuses is recommended for PLSVC with other structural abnormalities.
文摘Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the population in numerous countries. The aim of this literature review is to contribute to the popularization of cytogenetics. Methodology: This literature review is a text which contains, analyzes and organizes several referenced articles in French and English which have been selected from electronic databases. It provides a documentation of various activities and progress that have an interest in the field of cytogenetics. Results: In the context of cytogenetics, it is necessary to establish partnerships to strengthen infrastructures and produce quality results. The setting up of cytogenetic services and incentives for participatory research give space to the community in the production of knowledge and innovation, alongside researchers. It’s important to create biobanks, where samples of substances from the human body are collected for use in research into the causes and mechanisms of many diseases and their treatments. To carry out clinical trials aims at assessing the effectiveness of a therapeutic strategy, as is currently the case with the use of cytogenetic tests (karyotype, FISH, etc.) as tool of therapeutic decision and prognostic in cancer biology. The monitoring of the ethic of cytogenetic research projects allows protecting rights, security and welfare of subjects. To solve issues of data management and analysis such as the obstacle to the acquisition of tools and the insufficiency in the training of researchers. Furthermore, dissemination of research results will lead to better understanding of research results, greater public engagement in science and greater social respect for research. Conclusion: Cytogenetics can benefit from these actions such as the development of its research infrastructures and training programs for its workforce as well as the development of its clinical care. All this would have an impact on the population’s state of health.
