The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the d...The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration.展开更多
With assistance of chromosome C-banding and genomic in situ hybridization (GISH) combinedwith meiotic analysis, five germplasms with homozygous wheat-Th. bessarabicum chromosometranslocations were developed and identi...With assistance of chromosome C-banding and genomic in situ hybridization (GISH) combinedwith meiotic analysis, five germplasms with homozygous wheat-Th. bessarabicum chromosometranslocations were developed and identified among BC1F5 progenies of the cross betweenT. aestivum cv. Chinese Spring and Chinese Spring-Th. bessarabicum amphiploid. Theselines included Tj01 and Tj02 (2n=44) containing a pair of wheat-Th. bessarabicumtranslocation chromosomes besides a pair of added Th. bessarabicum chromosomes, Tj03(2n=44) with a pair of added interspecific translocation chromosomes, Tj04 (2n=44)containing a pair of interspecific translocation chromosomes besides an added pair ofTh. bessarabicum chromosome arms and Tj05 (2n=46) containing a pair of interspecifictranslocation chromosomes besides two pairs of added intact alien chromosomes. Thebreakpoints of all the translocations were found to be not around centromere. Meanwhile,all the lines showed normal plant growth, development and fertility, while the translocationchromosomes transmitted regularly. The obtained translocations might be of use fortransferring elite genes from Th. bessarabicum into wheat.展开更多
Karyotype analysis has significant clinical importance. Effectively detecting the exact abnormity of chromosomes will contribute to the diagnosis of certain diseases. In this paper, I presented a convenient and reliab...Karyotype analysis has significant clinical importance. Effectively detecting the exact abnormity of chromosomes will contribute to the diagnosis of certain diseases. In this paper, I presented a convenient and reliable system that was capable of detecting t(9;22) chromosome translocation, a specific chromosomal abnormity in CML patients. The functions of this system were based on deep learning algorithms, and I created a classification system using ResNet. The model could effectively detect t(9;22) translocation based on images of chromosomes 9 and 22. This model achieves a 97.5% accuracy on the validation set.展开更多
We report one case of pediatric acute myeloid leukemia type 2（AML-M2） who presented with karyotypic aberration of trisomy 21 with the t（5;11） chromosomal translocation. The patient achieved complete remission afte...We report one case of pediatric acute myeloid leukemia type 2（AML-M2） who presented with karyotypic aberration of trisomy 21 with the t（5;11） chromosomal translocation. The patient achieved complete remission after two cycles of chemotherapy of daunorubicin, cytarabine and etoposide. Then, follow-up cytogenetic analysis from bone marrow cell cultures demonstrated a normal karyotype of 46, XY. After 9 years, the patient relapsed and the karyotypic abnormalities of trisomy 21 with t（5;11） reappeared. It was concluded that trisomy 21 with t（5; 11） is a new unfavorable cytogenetic aberration in AML-M2.展开更多
目的对叶酸、维生素B_(12)(VB_(12))、二甲双胍联用对2型糖尿病(T2DM)患者的治疗作用。方法选取2021年2月至2023年3月浙江省医疗健康集团长兴医院收治的112例T2DM患者,采用随机数字表法分为对照组(VB_(12)^(+)二甲双胍,56例)和研究组(叶...目的对叶酸、维生素B_(12)(VB_(12))、二甲双胍联用对2型糖尿病(T2DM)患者的治疗作用。方法选取2021年2月至2023年3月浙江省医疗健康集团长兴医院收治的112例T2DM患者,采用随机数字表法分为对照组(VB_(12)^(+)二甲双胍,56例)和研究组(叶酸^(+)VB_(12)^(+)二甲双胍,56例)。对比血糖、糖化血红蛋白(HbA1c)、空腹胰岛素(FINS)水平、胰岛素抵抗指数(HOMA-IR)和同型半胱氨酸(Hcy)水平、临床疗效、CD4^(+)、CD8^(+)、CD4^(+)/CD8^(+)水平、Th1、Th17、Th1/Th17水平,不良反应及并发症。结果治疗后,研究组空腹血糖(FPG)、餐后2 h血糖(2 h PG)、HOMA-IR、HbA1c、FINS和Hcy均低于治疗前与对照组(P<0.05);研究组总有效率更高(P<0.05);治疗后研究组CD4^(+)、CD4^(+)/CD8^(+)均高于治疗前和对照组(P<0.05),CD8^(+)低于治疗前和对照组(P<0.05);治疗后,研究组Th1、Th17水平低于治疗前和对照组(P<0.05),Th1/Th17高于治疗前和对照组(P<0.05);2组患者不良反应发生率比较差异无统计学意义(P>0.05);研究组并发症发生率低于对照组(P<0.05)。结论叶酸与VB_(12)、二甲双胍联用治疗T2DM有助于控糖,还可提高免疫,调节Th1/Th17平衡,且安全可靠,有助于减少并发症。展开更多
BACKGROUND MLL gene rearrangement is a common genetic abnormality of acute myeloid leukemia(AML),which predicts poor prognosis and is important in clinical diagnosis.MLL rearrangement involves many chromosomes,among w...BACKGROUND MLL gene rearrangement is a common genetic abnormality of acute myeloid leukemia(AML),which predicts poor prognosis and is important in clinical diagnosis.MLL rearrangement involves many chromosomes,among which,t(4;11)translocation is rare in AML.The present case was t(4;11)AML,accompanied by a hyperdiploid karyotype.Such cases have not been reported previously.CASE SUMMARY An adult male with self-reported symptoms of fatigue,febrility and hyperleukocytosis was diagnosed with AML by morphology and confirmed by immunophenotype analysis.Uncommonly,chromosomal and fluorescence in situ hybridization(FISH)analysis showed a hyperdiploid karyotype with t(4;11)translocation and MLL rearrangement,and a negative MLL–AF4 fusion gene result.The patient died of respiratory and circulatory failure 5 days after diagnosis.CONCLUSION t(4;11)AML with hyperdiploid karyotype has not been reported.In this case,t(4;11)was only detected by karyotype analysis and FISH,suggesting their importance in MLL rearrangement detection.展开更多
文摘The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration.
文摘With assistance of chromosome C-banding and genomic in situ hybridization (GISH) combinedwith meiotic analysis, five germplasms with homozygous wheat-Th. bessarabicum chromosometranslocations were developed and identified among BC1F5 progenies of the cross betweenT. aestivum cv. Chinese Spring and Chinese Spring-Th. bessarabicum amphiploid. Theselines included Tj01 and Tj02 (2n=44) containing a pair of wheat-Th. bessarabicumtranslocation chromosomes besides a pair of added Th. bessarabicum chromosomes, Tj03(2n=44) with a pair of added interspecific translocation chromosomes, Tj04 (2n=44)containing a pair of interspecific translocation chromosomes besides an added pair ofTh. bessarabicum chromosome arms and Tj05 (2n=46) containing a pair of interspecifictranslocation chromosomes besides two pairs of added intact alien chromosomes. Thebreakpoints of all the translocations were found to be not around centromere. Meanwhile,all the lines showed normal plant growth, development and fertility, while the translocationchromosomes transmitted regularly. The obtained translocations might be of use fortransferring elite genes from Th. bessarabicum into wheat.
文摘Karyotype analysis has significant clinical importance. Effectively detecting the exact abnormity of chromosomes will contribute to the diagnosis of certain diseases. In this paper, I presented a convenient and reliable system that was capable of detecting t(9;22) chromosome translocation, a specific chromosomal abnormity in CML patients. The functions of this system were based on deep learning algorithms, and I created a classification system using ResNet. The model could effectively detect t(9;22) translocation based on images of chromosomes 9 and 22. This model achieves a 97.5% accuracy on the validation set.
文摘We report one case of pediatric acute myeloid leukemia type 2（AML-M2） who presented with karyotypic aberration of trisomy 21 with the t（5;11） chromosomal translocation. The patient achieved complete remission after two cycles of chemotherapy of daunorubicin, cytarabine and etoposide. Then, follow-up cytogenetic analysis from bone marrow cell cultures demonstrated a normal karyotype of 46, XY. After 9 years, the patient relapsed and the karyotypic abnormalities of trisomy 21 with t（5;11） reappeared. It was concluded that trisomy 21 with t（5; 11） is a new unfavorable cytogenetic aberration in AML-M2.
文摘目的对叶酸、维生素B_(12)(VB_(12))、二甲双胍联用对2型糖尿病(T2DM)患者的治疗作用。方法选取2021年2月至2023年3月浙江省医疗健康集团长兴医院收治的112例T2DM患者,采用随机数字表法分为对照组(VB_(12)^(+)二甲双胍,56例)和研究组(叶酸^(+)VB_(12)^(+)二甲双胍,56例)。对比血糖、糖化血红蛋白(HbA1c)、空腹胰岛素(FINS)水平、胰岛素抵抗指数(HOMA-IR)和同型半胱氨酸(Hcy)水平、临床疗效、CD4^(+)、CD8^(+)、CD4^(+)/CD8^(+)水平、Th1、Th17、Th1/Th17水平,不良反应及并发症。结果治疗后,研究组空腹血糖(FPG)、餐后2 h血糖(2 h PG)、HOMA-IR、HbA1c、FINS和Hcy均低于治疗前与对照组(P<0.05);研究组总有效率更高(P<0.05);治疗后研究组CD4^(+)、CD4^(+)/CD8^(+)均高于治疗前和对照组(P<0.05),CD8^(+)低于治疗前和对照组(P<0.05);治疗后,研究组Th1、Th17水平低于治疗前和对照组(P<0.05),Th1/Th17高于治疗前和对照组(P<0.05);2组患者不良反应发生率比较差异无统计学意义(P>0.05);研究组并发症发生率低于对照组(P<0.05)。结论叶酸与VB_(12)、二甲双胍联用治疗T2DM有助于控糖,还可提高免疫,调节Th1/Th17平衡,且安全可靠,有助于减少并发症。
文摘BACKGROUND MLL gene rearrangement is a common genetic abnormality of acute myeloid leukemia(AML),which predicts poor prognosis and is important in clinical diagnosis.MLL rearrangement involves many chromosomes,among which,t(4;11)translocation is rare in AML.The present case was t(4;11)AML,accompanied by a hyperdiploid karyotype.Such cases have not been reported previously.CASE SUMMARY An adult male with self-reported symptoms of fatigue,febrility and hyperleukocytosis was diagnosed with AML by morphology and confirmed by immunophenotype analysis.Uncommonly,chromosomal and fluorescence in situ hybridization(FISH)analysis showed a hyperdiploid karyotype with t(4;11)translocation and MLL rearrangement,and a negative MLL–AF4 fusion gene result.The patient died of respiratory and circulatory failure 5 days after diagnosis.CONCLUSION t(4;11)AML with hyperdiploid karyotype has not been reported.In this case,t(4;11)was only detected by karyotype analysis and FISH,suggesting their importance in MLL rearrangement detection.
