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1.
J Oral Sci ; 65(1): 24-28, 2023 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-36529513

RESUMO

PURPOSE: To examine the use of liquid-based exfoliative cytology to determine the presence of genomic instability and cell death in the oral mucosa of patients with orthodontic appliances. METHODS: Fifty-four oral mucosa samples were collected from 18 patients and divided into three stages: T0, before fixation of orthodontic appliances; T1, 25 days after appliance fixation; T2, 90 days after appliance fixation. All samples were Papanicolaou-stained and observed by microscopy (1,000 cells/sample) to ascertain the frequency of micronucleated cells (MN) and nuclear abnormalities (nuclear buds (NB), binucleated (BN), condensed chromatin (CC), karyorrhexis (KR), and karyolysis (KL)). Differences were analyzed statistically using the Mann-Whitney, Wilcoxon, Kruskal-Wallis and chi-squared tests. RESULTS: After placement of orthodontic appliances, significant differences were observed for genomic instability biomarkers (MN and NB) and cell death (CC, KR and KL) (P < 0.05). Female patients and older patients exhibited a higher frequency of MN. CONCLUSION: Liquid-based cytology has revealed that orthodontic appliances induce genomic instability and cell death in epithelial tissue of the oral mucosa, facilitating sample preservation and yielding more than one preparation per sample. Future studies should investigate whether such cell damage can be reversed through cell repair or whether cell alterations evolve and lead to disease.


Assuntos
Mucosa Bucal , Aparelhos Ortodônticos , Feminino , Humanos , Morte Celular , Aparelhos Ortodônticos/efeitos adversos , Instabilidade Genômica , Citogenética
2.
Gene ; 856: 147110, 2023 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-36543308

RESUMO

Optimizing prognostic stratification of patients with cytogenetic normal acute myeloid leukemia (CN-AML), a highly heterogeneous subgroup in AML, appears to be important to improve its treatment and clinical outcome. Here, we report a potential role of ELL, a gene associated with leukemogenesis in AML, in prognostic stratification of CN-AML patients. By analyzing public available databases, we found that ELL was highly expressed in AML patients compared with healthy donors. Kaplan-Meier analysis revealed that ELL expression markedly correlated with short overall survival (OS) of CN-AML patients. In COX multivariable regression analysis, higher ELL expression was an independent prognostic factor for OS in CN-AML. Knockdown of ELL by shRNAs sensitized KG-1α cells to anti-leukemic agents such as idarubicin (IDA) and chidamide (CS055), supporting its role in therapeutic response and outcome in AML. To understand its function in CN-AML, we further analyzed the ELL-driving gene signature. ELL-related genes were particularly enriched in cell adhesion molecules, cell differentiation, pathways in cancer, sequence-specific DNA binding, and extracellular matrix (ECM)-receptor interaction. Analysis of the PPI network identified 25 hub genes, including the stem cell gene BMP4. While BMP4 expression was significantly associated with ELL in CN-AML, knockdown of ELL markedly down-regulated BMP4 expression, suggesting that ELL might function via regulating BMP4 in AML. Together, these observations suggest a novel mechanism underlying pro-leukemogenic role of ELL via BMP4 up-regulation in AML and its potential value to serve as a predictive biomarker for therapeutic response and outcome of CN-AML patients.


Assuntos
Leucemia Mieloide Aguda , Humanos , Leucemia Mieloide Aguda/terapia , Leucemia Mieloide Aguda/tratamento farmacológico , Citogenética , Análise Citogenética , Fatores de Elongação da Transcrição/genética
3.
Hist Philos Life Sci ; 44(4): 70, 2022 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-36460822

RESUMO

This essay surveys the situation of Italian women life scientists from the late nineteenth to the mid-twentieth century. It follows the path that took women from being an exceptional presence to becoming a common, yet not equal, presence in the Italian science departments. Very different proportions of women occupied the three ranks in the academic hierarchy-students, research staff and professors. From the late nineteenth century onwards, women started to enrol in Italian universities. Initially, the second most popular department among female students-outdone only by the humanities-was that of mathematics, physics and natural sciences. Concerning women among research staff, a brief statistical analysis reveals the growing proportion of the female workforce in academic institutions and brings into view poorly known female assistants and technicians. The most difficult career step for women was to gain a tenured university position. A comparison between bacteriologist Giuseppina Cattani's 'failure' to gain such a position and the ultimately successful strategy of zoologist and limnologist Rina Monti, who became one of the very first female university professors in Europe, illustrates the opportunities as well as the obstacles women naturalists encountered on the way into the academia. These experiences and those of others show that well into the twentieth century the support of powerful male mentors continued to be indispensable for women scientists. Positions in peripheral institutes or specializations in emerging research fields, in particular hydrobiology, entomology and cytogenetics, provided opportunities for Italian women to work their way up to professorships.


Assuntos
Disciplinas das Ciências Biológicas , Humanos , Feminino , Masculino , Ciências Humanas , Europa (Continente) , Física , Citogenética
4.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 30(6): 1637-1642, 2022 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-36476882

RESUMO

OBJECTIVE: To calculate the cut-off values of speed of platelet recovery and its R-squared in patients with acute myeloid leukemia (AML) after initial induction chemotherapy, which were used to predict the complete remission (CR) of the first induction chemotherapy, and guide the clinic to choose the next appropriate chemotherapy regimen as soon as possible. METHODS: A total of 117 patients with newly diagnosed AML in the Second Hospital of Shanxi Medical University were included. Patients were diagnosed by morphology, immunology, cytogenetics, and molecular biology (MICM) classification, and the risk stratification was evaluated in combination with the clinical situations of the patients at the time of admission. The peripheral platelet counts after the first induction chemotherapy were detected and the linear regression equation was used to calculate the recovery speed of platelet counts in 5 consecutive blood cell analysis before discharge. According to the ROC curve, the cut-off value between the recovery speed and the R-squared was calculated, and the cut-off value was used to divide the patients into different groups. The differences between groups were compared by Pearson χ2 test to observe the remission effect of the first induction chemotherapy. RESULTS: ROC curve analysis showed that the cut-off value for predicting the platelet recovery speed and its R-squared of the first induction chemotherapy to achieve remission was 4.059 5×109/(L·d) and 72.7%, the sensitivity was 77% and 63.9%, the specificity was 62.5% and 67.9%, and the Youden index was 0.395 and 0.318, respectively. The patients were divided into different groups and compared according to the above cut-off values, and the results showed statistical differences (P<0.001, P=0.001). CONCLUSION: The cut-off value of platelet recovery speed and its R-squared after the first induction chemotherapy calculated by peripheral platelet count and ROC curve in AML patients can be used as an index to evaluate the remission. The faster the platelet recovery speed after chemotherapy is, the more likely patients achieve remission. The more stable the platelet recovery tendency is, the more likely patients achieve remission too.


Assuntos
Quimioterapia de Indução , Leucemia Mieloide Aguda , Humanos , Citogenética , Leucemia Mieloide Aguda/tratamento farmacológico , Biologia Molecular
6.
Rinsho Ketsueki ; 63(11): 1525-1529, 2022.
Artigo em Japonês | MEDLINE | ID: mdl-36476792

RESUMO

A 76-year-old woman with leukocytosis and thrombocytopenia was admitted to our hospital. A bone marrow examination showed a composition of 82.0% blasts, i.e., positive for TdT, CD10, CD19, CD34, and HLA-DR and negative for cyCD3, CD13, CD33, MPO, and cyµ. The reverse transcription-polymerase chain reaction analysis revealed a minor BCR-ABL1 fusion gene, leading to a diagnosis of acute lymphocytic leukemia (ALL) with a BCR-ABL1 fusion gene. G-band assay was negative for Philadelphia (Ph) chromosome and also revealed add (21) (q22. 1) and del (20) (q11. 2q13.3). Fluorescence in situ hybridization (FISH) assaying revealed a positive BCR-ABL1 fusion signal. Thus, this patient was diagnosed as Ph chromosome-negative and BCR-ABL1-positive fusion gene ALL, which suggested the presence of ALL with the "masked" Ph chromosome found in approximately 1% of chronic myeloid leukemia. Therefore, the FISH analysis may complement cytogenetic analysis when cytogenetic and molecular genetic findings are contradictory in ALL.


Assuntos
Cromossomo Filadélfia , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Hibridização in Situ Fluorescente , Citogenética , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética
7.
J Coll Physicians Surg Pak ; 32(11): 1430-1434, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36377010

RESUMO

OBJECTIVE: To study the correlation of cytogenetic and molecular abnormalities on induction chemotherapy in childhood acute lymphoblastic leukaemia (ALL). STUDY DESIGN: Analytical study. PLACE AND DURATION OF STUDY: Department of Haematology, Armed Forces Institute of Pathology (AFIP), from March 2021 to August 2021. METHODOLOGY: Patients aged 1-18 years with newly diagnosed acute lymphoblastic leukaemia were inducted. Patients aged less than 1 year and more than 18 years were excluded from the study. The diagnosis was based on morphology, cytochemistry, flow cytometry, and cytogenetic/molecular analysis. Risk stratification was done on the basis of age, TLC, and cytogenetic/molecular defects. The UKALL 2011 protocol was used for treatment with regimen-A for standard risk and regimen-B for high-risk patients. Bone marrow was repeated on day 29 of induction therapy and blast percentage was assessed to establish post-induction remission. Association between cytogenetic / molecular abnormalities and post-induction remission status was analysed using chi-square test. RESULTS: There were total 142 patients with mean age of 6.4 + 3.6 years and a male- to-female ratio of 2.7:1. Immunophenotyping revealed 85.9% cases as B-cell ALL and 14.1% as T-cell ALL. The most frequent cytogenetic and molecular abnormalities were hyperdiploidy (19%), t(9;22)/BCR-ABL1(p190) (10.6%), complex karyotype (5.6%), E2A-PBX1 (8.5%), and TEL-AML1 (4.9%). A total of 127/142 (89.4%) achieved haematological remission after induction therapy with two deaths during induction therapy (1.4%). Post-induction remission rate in patients with favorable cytogenetic/molecular defects was 100% and in children with bad prognostic changes, the rate of remission was 69.2%. Chi-square test showed a significant association between cytogenetic/molecular abnormalities and post-induction remission (p-value <0.001). CONCLUSION: Cytogenetic and molecular abnormalities have a significant association with post-induction remission in children with acute lymphoblastic leukaemia. KEY WORDS: Acute lymphoblastic leukaemia, Cytogenetics, Chemotherapy, Induction, Remission.


Assuntos
Quimioterapia de Indução , Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Criança , Masculino , Feminino , Pré-Escolar , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Citogenética , Aberrações Cromossômicas , Análise Citogenética , Prognóstico , Indução de Remissão
8.
Hist Philos Life Sci ; 44(4): 56, 2022 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-36326965

RESUMO

The 1968 Olympic Games in Mexico included innovative practices and technological knowledge of human biology. The first time that cytogenetic techniques had been applied to athletes was in the 1966 European Athletics Championship in Budapest and used on Olympic athletes for the first time in Mexico in 1968. The Genetics and Human Biology Program (Programa de Genética y Biología Humanas, PGBH) was created for this purpose in 1966 in close collaboration with the Local Organizing Committee (Comité Organizador, CO), by Mexican geneticists Alfonso León de Garay and Rodolfo Félix Estrada who led the project. The main objective was to study the genetic and anthropological components which determine an Olympic athlete's abilities. This investigation studied 1,265 game participants and included family studies, cytological analyses, research on single genes, and the study of sex determination. In terms of influence beyond Mexico, this Program was significant as a site of transnational collaboration. It mobilized cognitive and financial resources, scientific practices, and material culture to set up a clinical laboratory in the Olympic Village. The Program also hosted three international seminars in Mexico City, two before the games, to calibrate clinical trials and anthropological tests. One in 1969 to analyze the results and proceed to their publication in 1974. This manuscript will focus on the PGBH to show how its work fits in the larger tapestry of post-1945 human biological studies. Also, to explore how the Olympic athlete populations studied can be considered laboratories of knowledge production or sites of cognition conceived as specific entities for scientific inquiry, standardization of medical practices, and the production or application of medicines. Finally, through the narrative of the different trajectories and collaborations of the leaders of the PGBH, this manuscript will show how contact between their scientific practices brought cytogenetics and sports together.


Assuntos
Esportes , Humanos , México , Citogenética , Análise Citogenética
9.
Genes (Basel) ; 13(11)2022 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-36421773

RESUMO

As a clinical diagnostic technique, fluorescence in situ hybridization (FISH) is simple, reliable, cost-effective and widely applicable. Due to technology advances, automation systems are adapted in FISH in different ways, involving all and/or some of the following procedural steps: sample processing, probe distribution, hybridization, post-wash, result analysis and/or final report preparation. To better understand the status and prospective of FISH automation, a survey has been recently performed among Cytogenetic Laboratory Directors and/or their designated Laboratory Managers, Supervisors or certified Cytogenetic Technologists. We present here the preliminary analysis of this survey, to advocate more discussion about standardization of the FISH automation as well as implementation of FISH automation as part of educational programs for Cytogenetic Technologists.


Assuntos
Laboratórios , Hibridização in Situ Fluorescente/métodos , Automação , Citogenética
10.
Int J Mol Sci ; 23(21)2022 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-36361813

RESUMO

Modern molecular cytogenetics allows many aspects of the nuclear genome structure, function, and evolution to be analysed within the topographic context of mitotic and meiotic chromosomes and interphase nuclei [...].


Assuntos
Núcleo Celular , Cromossomos , Interfase/genética , Núcleo Celular/genética , Cromossomos/genética , Citogenética , Genoma
11.
Zootaxa ; 5182(6): 567-581, 2022 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-36095665

RESUMO

Cephalophlugis Gorochov, 1998 is a Neotropical genus of predatory katydids with two valid species, Cephalophlugis cephalotes (Bolvar, 1888) (from So Paulo, Brazil) and Cephalophlugis setosa Gorochov, 2012 (from Sucumbios, Ecuador). Herein, we describe a third species of the genus, Cephalophlugis gaucho sp. nov., from Rio Grande do Sul, Brazil. This species is easily distinguished from the others by the color of the hind wings and the number of spurs on the fore and middle legs. The calling song is composed of a long phrase with a series of syllables that vary in emission rate from beginning to end, with a dominant frequency of 23.43 0.6 (22.1224.37, n=11) kHz. So far, the species sings at the lowest frequency among the Phlugidini. From the chromosomal perspective, C. gaucho sp. nov. presents the karyotype 2n=31, X0, with the complement conserved within Meconematinae.


Assuntos
Ortópteros , Animais , Brasil , Análise Citogenética , Citogenética , Ortópteros/genética
12.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 30(4): 1144-1149, 2022 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-35981375

RESUMO

OBJECTIVE: To analyze the clinical characteristics of multiple myeloma(MM) patients with early relapse. METHODS: A total of 50 MM patients with early relapse (≤12 months) and 50 matched controls with late relapse (>12 months) were selected. The time from diagnosis to relapse and related clinical data of the 100 patients were retrospectively analyzed, and the factors associated with early relapse were identified. Kaplan-Meier curve was used to analyze the overall survival (OS) time of the whole cohort. Area under the curve (AUC) was used to evaluate the effect of circulating plasma cells on early recurrence of the patients. RESULTS: The results showed that high-risk cytogenetics (FISH) (P=0.005), and ISS stage III (P=0.008) were associated with early recurrence of the patients. For patients with early relapse, high-risk FISH showed poor survival. Compared with the patients with late relapse, most of the chromosome karyotype of patients with early relapse showed quantitative and structural abnormalities. The expression of circulating plasma cells was significantly increased in patients with early recurrence group (P=0.0318). The response to initial treatment was poor in the early recurrence group (P=0.001), and the prognosis was significantly worse than those in the late recurrence group (median OS: 38 vs 81 months, P=0.002). CONCLUSION: Early relapse is a marker poor prognostic in MM patients, and such patients should be focused on the improving their prognosis.


Assuntos
Mieloma Múltiplo , Citogenética , Humanos , Mieloma Múltiplo/tratamento farmacológico , Recidiva Local de Neoplasia , Prognóstico , Estudos Retrospectivos
13.
Cells ; 11(14)2022 07 20.
Artigo em Inglês | MEDLINE | ID: mdl-35883687

RESUMO

Cytogenetics laboratory tests are among the most important procedures for the diagnosis of genetic diseases, especially in the area of hematological malignancies. Manual chromosomal karyotyping methods are time consuming and labor intensive and, hence, expensive. Therefore, to alleviate the process of analysis, several attempts have been made to enhance karyograms. The current chromosomal image enhancement is based on classical image processing. This approach has its limitations, one of which is that it has a mandatory application to all chromosomes, where customized application to each chromosome is ideal. Moreover, each chromosome needs a different level of enhancement, depending on whether a given area is from the chromosome itself or it is just an artifact from staining. The analysis of poor-quality karyograms, which is a difficulty faced often in preparations from cancer samples, is time consuming and might result in missing the abnormality or difficulty in reporting the exact breakpoint within the chromosome. We developed ChromoEnhancer, a novel artificial-intelligence-based method to enhance neoplastic karyogram images. The method is based on Generative Adversarial Networks (GANs) with a data-centric approach. GANs are known for the conversion of one image domain to another. We used GANs to convert poor-quality karyograms into good-quality images. Our method of karyogram enhancement led to robust routine cytogenetic analysis and, therefore, to accurate detection of cryptic chromosomal abnormalities. To evaluate ChromoEnahancer, we randomly assigned a subset of the enhanced images and their corresponding original (unenhanced) images to two independent cytogeneticists to measure the karyogram quality and the elapsed time to complete the analysis, using four rating criteria, each scaled from 1 to 5. Furthermore, we compared the enhanced images with our method to the original ones, using quantitative measures (PSNR and SSIM metrics).


Assuntos
Aberrações Cromossômicas , Processamento de Imagem Assistida por Computador , Citogenética , Humanos , Processamento de Imagem Assistida por Computador/métodos , Inteligência , Cariotipagem
14.
Blood Cancer J ; 12(7): 106, 2022 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-35803921

RESUMO

Therapy-related myeloid neoplasms (t-MN) are aggressive leukemia that develops as a complication of prior exposure to DNA-damaging agents. Clonal cytopenia of undetermined significance (CCUS) is a precursor of de novo myeloid neoplasms. Characteristics of CCUS that develop following cytotoxic therapies (therapy-related clonal cytopenia, t-CC) and outcomes following t-CC have not been described. We identified 33 patients with t-CC and compared to a cohort of the WHO-defined t-MN (n = 309). t-CC had a distinct genetic and cytogenetic profile: pathogenic variants (PV) in TET2 and SRSF2 were enriched in t-CC, whereas TP53 PV was more common in t-MN. Ten (30%) t-CC patients developed a subsequent t-MN, with a cumulative incidence of 13%, 23%, and 50% at 6 months, 1, and 5 years, respectively. At t-MN progression, 44% of evaluable patients had identifiable clonal evolution. The median survival following t-CC was significantly superior compared all t-MN phenotype including t-MDS with <5% bone marrow blasts (124.5 vs. 16.3 months, P < 0.001) respectively. The presence of cytogenetic abnormality and the absence of variants in DNMT3A, TET2, or ASXL1 (DTA-genes) were associated with a higher likelihood of developing a subsequent t-MN and an inferior survival. We describe a putative precursor entity of t-MN with distinct features and outcomes.


Assuntos
Leucemia Mieloide Aguda , Transtornos Mieloproliferativos , Segunda Neoplasia Primária , Evolução Clonal/genética , Citogenética , Humanos , Leucemia Mieloide Aguda/genética , Mutação , Transtornos Mieloproliferativos/genética , Segunda Neoplasia Primária/genética , Segunda Neoplasia Primária/patologia
16.
Blood Adv ; 6(19): 5570-5581, 2022 10 11.
Artigo em Inglês | MEDLINE | ID: mdl-35788257

RESUMO

Survival of patients with acute myeloid leukemia (AML) is inversely associated with age, but the impact of race on outcomes of adolescent and young adult (AYA; range, 18-39 years) patients is unknown. We compared survival of 89 non-Hispanic Black and 566 non-Hispanic White AYA patients with AML treated on frontline Cancer and Leukemia Group B/Alliance for Clinical Trials in Oncology protocols. Samples of 327 patients (50 Black and 277 White) were analyzed via targeted sequencing. Integrated genomic profiling was performed on select longitudinal samples. Black patients had worse outcomes, especially those aged 18 to 29 years, who had a higher early death rate (16% vs 3%; P=.002), lower complete remission rate (66% vs 83%; P=.01), and decreased overall survival (OS; 5-year rates: 22% vs 51%; P<.001) compared with White patients. Survival disparities persisted across cytogenetic groups: Black patients aged 18 to 29 years with non-core-binding factor (CBF)-AML had worse OS than White patients (5-year rates: 12% vs 44%; P<.001), including patients with cytogenetically normal AML (13% vs 50%; P<.003). Genetic features differed, including lower frequencies of normal karyotypes and NPM1 and biallelic CEBPA mutations, and higher frequencies of CBF rearrangements and ASXL1, BCOR, and KRAS mutations in Black patients. Integrated genomic analysis identified both known and novel somatic variants, and relative clonal stability at relapse. Reduced response rates to induction chemotherapy and leukemic clone persistence suggest a need for different treatment intensities and/or modalities in Black AYA patients with AML. Higher early death rates suggest a delay in diagnosis and treatment, calling for systematic changes to patient care.


Assuntos
Leucemia Mieloide Aguda , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Citogenética , Resistencia a Medicamentos Antineoplásicos , Humanos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/etnologia , Leucemia Mieloide Aguda/mortalidade , Proteínas Proto-Oncogênicas p21(ras) , Indução de Remissão , Adulto Jovem
17.
Int J Mol Sci ; 23(15)2022 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-35897665

RESUMO

Sexual vs. asexual reproduction-unisexual vs. bisexual populations-diploid vs. polyploid biotypes-genetic vs. environmental sex determination: all these natural phenomena are associated with the genus of teleost fish, Carassius. This review places emphasis on two Carassius entities with completely different biological characteristics: one globally widespread and invasive Carassius gibelio, and the other C. carassius with a decreasing trend of natural occurrence. Comprehensive biological and cytogenetic knowledge of both entities, including the physical interactions between them, can help to balance the advantages of highly invasive and disadvantages of threatened species. For example, the benefits of a wide-ranged colonization can lead to the extinction of native species or be compensated by parasitic enemies and lead to equilibrium. This review emphasizes the comprehensive biology and cytogenetic knowledge and the importance of the Carassius genus as one of the most useful experimental vertebrate models for evolutionary biology and genetics. Secondly, the review points out that effective molecular cytogenetics should be used for the identification of various species, ploidy levels, and hybrids. The proposed investigation of these hallmark characteristics in Carassius may be applied in conservation efforts to sustain threatened populations in their native ranges. Furthermore, the review focuses on the consequences of the co-occurrence of native and non-native species and outlines future perspectives of Carassius research.


Assuntos
Cyprinidae , Animais , Análise Citogenética , Citogenética , Diploide , Ploidias
18.
Genes (Basel) ; 13(6)2022 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-35741774

RESUMO

Primary human umbilical vein endothelial cells (HUVECs) are consistently the most reliable in vitro model system for studying the inner lining of blood and lymphatic vessels or the endothelium. Primary human cells originate from freshly isolated tissues without genetic manipulation and generally show a modal number of 46 chromosomes with no structural alterations, at least during early passages. We investigated the cytogenetic integrity of HUVECs with conventional (G-banding) and molecular cytogenetic methods (spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH)). Our G-band data shows two X-chromosomes, confirming these HUVECs originate from a female donor. Notably, some cells consistently exhibit an unfamiliar banding pattern on one X chromosome toward the distal end of the long arm (Xq). Our FISH analysis confirms that approximately 50% of these HUVECs have a deletion of the Xq terminal region. SKY analysis indicates that the deleted region is apparently not integrated into any other chromosome. Finally, we demonstrated the presence of a similar Xq deletion in the daughter cell line, EA.hy926, which was generated by fusing HUVECs with A549 (a thioguanine-resistant clone of adenocarcinomic human alveolar basal epithelial cells). These findings will advance comprehension of HUVECs biology and will augment future endothelial studies.


Assuntos
Mosaicismo , Citogenética , Feminino , Células Endoteliais da Veia Umbilical Humana , Humanos , Hibridização in Situ Fluorescente/métodos , Cariotipagem
19.
Zhonghua Xue Ye Xue Za Zhi ; 43(4): 336-341, 2022 Apr 14.
Artigo em Chinês | MEDLINE | ID: mdl-35680634

RESUMO

Objective: To retrospectively analyze the data of Chinese patients with newly diagnosed acute promyelocytic leukemia (APL) to preliminarily discuss the clinical and cytogenetic characteristics. Methods: From February 2004 to June 2020, patients with newly diagnosed APL aged ≥ 15 years who were admitted to the Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Science & Peking Union Medical College were chosen. Clinical and laboratory features were retrospectively analyzed. Results: A total of 790 cases were included, with a male to female ratio of 1.22. The median age of the patients was 41 (15-76) years. Patients aged between 20 and 59 predominated, with 632 patients (80%) of 790 patients classified as low and intermediate risk and 158 patients (20%) of 790 patients classified as high risk. The white blood cell, platelet, and hemoglobin levels at diagnosis were 2.3 (0.1-176.1) ×10(9)/L, 29.5 (2.0-1220.8) ×10(9)/L, and 89 (15-169) g/L, respectively, and 4.8% of patients were complicated with psoriasis. The long-form type of PML-RARα was most commonly seen in APL, accounting for 58%. Both APTT extension (10.3%) and creatinine>14 mg/L (1%) are rarely seen in patients at diagnosis. Cytogenetics was performed in 715 patients with newly diagnosed APL. t (15;17) with additional chromosomal abnormalities were found in 155 patients, accounting for 21.7%; among which, +8 was most frequently seen. A complex karyotype was found in 64 (9.0%) patients. Next-generation sequencing was performed in 178 patients, and 113 mutated genes were discovered; 75 genes had an incidence rate>1%. FLT3 was the most frequently seen, which accounted for 44.9%, and 20.8% of the 178 patients present with FLT3-ITD. Conclusions: Patients aged 20-59 years are the most common group with newly diagnosed APL. No obvious difference was found in the ratio of males to females. In terms of risk stratification, patients divided into low and intermediate risk predominate. t (15;17) with additional chromosomal abnormalities accounted for 21% of 715 patients, in which +8 was most commonly seen. The long-form subtype was most frequently seen in PML-RARα-positive patients, and FLT3 was most commonly seen in the mutation spectrum of APL.


Assuntos
Leucemia Promielocítica Aguda , Adulto , Idoso , Aberrações Cromossômicas , Citogenética , Feminino , Humanos , Leucemia Promielocítica Aguda/diagnóstico , Leucemia Promielocítica Aguda/genética , Masculino , Pessoa de Meia-Idade , Mutação , Proteínas de Fusão Oncogênica/genética , Estudos Retrospectivos , Adulto Jovem
20.
Rev. cuba. hematol. inmunol. hemoter ; 38(2): e1516, abr.-jun. 2022.
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1408444

RESUMO

Introducción: Los síndromes mielodisplásicos constituyen un grupo heterogéneo de alteraciones de la célula progenitora hematopoyética. Estos se caracterizan por presentar una médula ósea hipercelular, una hematopoyesis inefectiva, displasia y citopenia periférica y la posibilidad de evolución a leucemia mieloide aguda. Objetivo: Describir las alteraciones citogenéticas y moleculares más frecuentes de los síndromes mielodisplásicos. Métodos: Se realizó una revisión de la literatura en los idiomas inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico, de artículos publicados en los últimos cinco años. Se realizó análisis y resumen de la bibliografía. Análisis y síntesis de la información: En los síndromes mielodisplásicos están presentes alteraciones citogenéticas frecuentes como la deleción de los cromosomas 5q, 7q y 20q, la monosomía del cromosoma 7, la trisomía del cromosoma 8 y la presencia de cariotipos complejos, que, unido a mutaciones somáticas en diferentes genes, intervienen en la patogénesis de la enfermedad y su conocimiento permite la estratificación pronóstica de los pacientes. Conclusiones: El diagnóstico a través de los estudios citogenéticos convencionales, la hibridación in situ por fluorescencia y la secuenciación génica permite una mayor comprensión de la biología de la enfermedad, la estratificación del riesgo y la toma de decisiones terapéuticas(AU)


Introduction: Myelodysplastic syndromes constitute a heterogeneous group of alterations of the hematopoietic progenitor cell, characterized by hypercellular bone marrow, ineffective hematopoietic, dysplasia and peripheral cytopenia; and the possibility of progressing to acute myeloid leukemia. Objective: To describe the most frequent cytogenetic and molecular alterations of myelodysplastic syndromes. Methods: A review of the literature in English and in Spanish was carried out, in the PubMed website and using the search engine Google, for articles published in the last five years. We performed analysis and summary of the reviewed bibliography. Analysis and synthesis of information: In myelodysplastic syndromes, frequent cytogenetic alterations are present such as deletion of chromosomes 5q, 7q and 20q, as well as the monosomy of chromosome 7, trisomy of chromosome 8 and the presence of complex karyotypes, which together with somatic mutations in different genes intervene in the pathogenesis of the disease and allow prognostic stratification of patients. Conclusions: Diagnosis through conventional cytogenetic studies, fluorescence in situ hybridization and gene sequencing allow a better understanding of the biology of the disease, risk stratification and therapeutic decision making(AU)


Assuntos
Humanos , Medula Óssea , Cromossomos Humanos Par 7 , Cromossomos Humanos Par 8 , Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda , Hibridização In Situ , Citogenética , Tomada de Decisões
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