Search

Your search keyword '"Silva, M. L. M."' showing total 25 results
Start Over Author "Silva, M. L. M."
25 results on '"Silva, M. L. M."'

1. The KMT2A recombinome of acute leukemias in 2023

Author

Meyer, C., Larghero, P., Almeida Lopes, B., Burmeister, T., Gröger, D., Sutton, R., Venn, N. C., Cazzaniga, G., Corral Abascal, L., Tsaur, G., Fechina, L., Emerenciano, M., Pombo-de-Oliveira, M. S., Lund-Aho, T., Lundán, T., Montonen, M., Juvonen, V., Zuna, J., Trka, J., Ballerini, P., Lapillonne, H., Van der Velden, V. H. J., Sonneveld, E., Delabesse, E., de Matos, R. R. C., Silva, M. L. M., Bomken, S., Katsibardi, K., Keernik, M., Grardel, N., Mason, J., Price, R., Kim, J., Eckert, C., Lo Nigro, L., Bueno, C., Menendez, P., zur Stadt, U., Gameiro, P., Sedék, L., Szczepański, T., Bidet, A., Marcu, V., Shichrur, K., Izraeli, S., Madsen, H. O., Schäfer, B. W., Kubetzko, S., Kim, R., Clappier, E., Trautmann, H., Brüggemann, M., Archer, P., Hancock, J., Alten, J., Möricke, A., Stanulla, M., Lentes, J., Bergmann, A. K., Strehl, S., Köhrer, S., Nebral, K., Dworzak, M. N., Haas, O. A., Arfeuille, C., Caye-Eude, A., Cavé, H., and Marschalek, R.

Published
2023
Full Text
View/download PDF

2. The KMT2A recombinome of acute leukemias in 2023

Author

Meyer, C, Larghero, P, Almeida Lopes, B; https://orcid.org/0000-0003-1072-470X, Burmeister, T; https://orcid.org/0000-0003-4843-2876, Gröger, D, Sutton, R; https://orcid.org/0000-0002-0188-6005, Venn, N C, Cazzaniga, G, Corral Abascal, L, Tsaur, G, Fechina, L, Emerenciano, M; https://orcid.org/0000-0003-2337-8420, Pombo-de-Oliveira, M S; https://orcid.org/0000-0002-1507-004X, Lund-Aho, T, Lundán, T, Montonen, M, Juvonen, V, Zuna, J; https://orcid.org/0000-0002-0887-3709, Trka, J, Ballerini, P, Lapillonne, H, Van der Velden, V H J; https://orcid.org/0000-0001-9457-3763, Sonneveld, E, Delabesse, E, de Matos, R R C; https://orcid.org/0000-0002-8737-1669, Silva, M L M; https://orcid.org/0000-0003-2549-1320, Bomken, S; https://orcid.org/0000-0001-9163-5738, Katsibardi, K, Keernik, M, Schäfer, Beat W; https://orcid.org/0000-0001-5988-2915, et al, Meyer, C, Larghero, P, Almeida Lopes, B; https://orcid.org/0000-0003-1072-470X, Burmeister, T; https://orcid.org/0000-0003-4843-2876, Gröger, D, Sutton, R; https://orcid.org/0000-0002-0188-6005, Venn, N C, Cazzaniga, G, Corral Abascal, L, Tsaur, G, Fechina, L, Emerenciano, M; https://orcid.org/0000-0003-2337-8420, Pombo-de-Oliveira, M S; https://orcid.org/0000-0002-1507-004X, Lund-Aho, T, Lundán, T, Montonen, M, Juvonen, V, Zuna, J; https://orcid.org/0000-0002-0887-3709, Trka, J, Ballerini, P, Lapillonne, H, Van der Velden, V H J; https://orcid.org/0000-0001-9457-3763, Sonneveld, E, Delabesse, E, de Matos, R R C; https://orcid.org/0000-0002-8737-1669, Silva, M L M; https://orcid.org/0000-0003-2549-1320, Bomken, S; https://orcid.org/0000-0001-9163-5738, Katsibardi, K, Keernik, M, Schäfer, Beat W; https://orcid.org/0000-0001-5988-2915, and et al

Abstract

Chromosomal rearrangements of the human KMT2A/MLL gene are associated with de novo as well as therapy-induced infant, pediatric, and adult acute leukemias. Here, we present the data obtained from 3401 acute leukemia patients that have been analyzed between 2003 and 2022. Genomic breakpoints within the KMT2A gene and the involved translocation partner genes (TPGs) and KMT2A-partial tandem duplications (PTDs) were determined. Including the published data from the literature, a total of 107 in-frame KMT2A gene fusions have been identified so far. Further 16 rearrangements were out-of-frame fusions, 18 patients had no partner gene fused to 5'-KMT2A, two patients had a 5'-KMT2A deletion, and one ETV6::RUNX1 patient had an KMT2A insertion at the breakpoint. The seven most frequent TPGs and PTDs account for more than 90% of all recombinations of the KMT2A, 37 occur recurrently and 63 were identified so far only once. This study provides a comprehensive analysis of the KMT2A recombinome in acute leukemia patients. Besides the scientific gain of information, genomic breakpoint sequences of these patients were used to monitor minimal residual disease (MRD). Thus, this work may be directly translated from the bench to the bedside of patients and meet the clinical needs to improve patient survival.

Published
2023

5. The KMT2Arecombinome of acute leukemias in 2023

Author

Meyer, C., Larghero, P., Almeida Lopes, B., Burmeister, T., Gröger, D., Sutton, R., Venn, N. C., Cazzaniga, G., Corral Abascal, L., Tsaur, G., Fechina, L., Emerenciano, M., Pombo-de-Oliveira, M. S., Lund-Aho, T., Lundán, T., Montonen, M., Juvonen, V., Zuna, J., Trka, J., Ballerini, P., Lapillonne, H., Van der Velden, V. H. J., Sonneveld, E., Delabesse, E., de Matos, R. R. C., Silva, M. L. M., Bomken, S., Katsibardi, K., Keernik, M., Grardel, N., Mason, J., Price, R., Kim, J., Eckert, C., Lo Nigro, L., Bueno, C., Menendez, P., zur Stadt, U., Gameiro, P., Sedék, L., Szczepański, T., Bidet, A., Marcu, V., Shichrur, K., Izraeli, S., Madsen, H. O., Schäfer, B. W., Kubetzko, S., Kim, R., Clappier, E., Trautmann, H., Brüggemann, M., Archer, P., Hancock, J., Alten, J., Möricke, A., Stanulla, M., Lentes, J., Bergmann, A. K., Strehl, S., Köhrer, S., Nebral, K., Dworzak, M. N., Haas, O. A., Arfeuille, C., Caye-Eude, A., Cavé, H., and Marschalek, R.

Abstract

Chromosomal rearrangements of the human KMT2A/MLLgene are associated with de novoas well as therapy-induced infant, pediatric, and adult acute leukemias. Here, we present the data obtained from 3401 acute leukemia patients that have been analyzed between 2003 and 2022. Genomic breakpoints within the KMT2Agene and the involved translocation partner genes (TPGs) and KMT2A-partial tandem duplications (PTDs) were determined. Including the published data from the literature, a total of 107 in-frame KMT2Agene fusions have been identified so far. Further 16 rearrangements were out-of-frame fusions, 18 patients had no partner gene fused to 5’-KMT2A, two patients had a 5’-KMT2Adeletion, and one ETV6::RUNX1patient had an KMT2Ainsertion at the breakpoint. The seven most frequent TPGs and PTDs account for more than 90% of all recombinations of the KMT2A, 37 occur recurrently and 63 were identified so far only once. This study provides a comprehensive analysis of the KMT2Arecombinome in acute leukemia patients. Besides the scientific gain of information, genomic breakpoint sequences of these patients were used to monitor minimal residual disease (MRD). Thus, this work may be directly translated from the bench to the bedside of patients and meet the clinical needs to improve patient survival.

Published
2023
Full Text
View/download PDF

7. The MLL recombinome of acute leukemias in 2017

Author

Meyer, C, Burmeister, T, Gröger, D, Tsaur, G, Fechina, L, Renneville, A, Sutton, R, Venn, N C, Emerenciano, M, Pombo-de-Oliveira, M S, Barbieri Blunck, C, Almeida Lopes, B, Zuna, J, Trka, J, Ballerini, P, Lapillonne, H, De Braekeleer, M, Cazzaniga, G, Corral Abascal, L, van der Velden, V H J, Delabesse, E, Park, T S, Oh, S H, Silva, M L M, Lund-Aho, T, Juvonen, V, Moore, A S, Heidenreich, O, Vormoor, J, Zerkalenkova, E, et al, Schafer, B W, Kubetzko, S, and University of Zurich

Subjects
10036 Medical Clinic, 2720 Hematology, 610 Medicine & health, 2730 Oncology, 1306 Cancer Research
Published
2018

8. The MLL recombinome of acute leukemias in 2017

Author

Meyer, C., Burmeister, T., Groeger, D., Tsaur, G., Fechina, L., Renneville, A., Sutton, R., Venn, N. C., Emerenciano, M., Pombo-de-Oliveira, M. S., Blunck, C. Barbieri, Lopes, B. Almeida, Zuna, J., Trka, J., Ballerini, P., Lapillonne, H., De Braekeleer, M., Cazzaniga, G., Abascal, L. Corral, van der Velden, V. H. J., Delabesse, E., Park, T. S., Oh, S. H., Silva, M. L. M., Lund-Aho, T., Juvonen, V., Moore, A. S., Heidenreich, O., Vormoor, J., Zerkalenkova, E., Olshanskaya, Y., Bueno, C., Menendez, P., Teigler-Schlegel, A., zur Stadt, U., Lentes, J., Goehring, G., Kustanovich, A., Aleinikova, O., Schafer, B. W., Kubetzko, S., Madsen, H. O., Gruhn, B., Duarte, X., Gameiro, P., Lippert, E., Bidet, A., Cayuela, J. M., Clappier, E., Alonso, C. N., Zwaan, C. M., van den Heuvel-Eibrink, M. M., Izraeli, S., Trakhtenbrot, L., Archer, P., Hancock, J., Moericke, A., Alten, J., Schrappe, M., Stanulla, M., Strehl, S., Attarbaschi, A., Dworzak, M., Haas, O. A., Panzer-Gruemayer, R., Sedek, L., Szczepanski, T., Caye, A., Suarez, L., Cave, H., Marschalek, R., Meyer, C., Burmeister, T., Groeger, D., Tsaur, G., Fechina, L., Renneville, A., Sutton, R., Venn, N. C., Emerenciano, M., Pombo-de-Oliveira, M. S., Blunck, C. Barbieri, Lopes, B. Almeida, Zuna, J., Trka, J., Ballerini, P., Lapillonne, H., De Braekeleer, M., Cazzaniga, G., Abascal, L. Corral, van der Velden, V. H. J., Delabesse, E., Park, T. S., Oh, S. H., Silva, M. L. M., Lund-Aho, T., Juvonen, V., Moore, A. S., Heidenreich, O., Vormoor, J., Zerkalenkova, E., Olshanskaya, Y., Bueno, C., Menendez, P., Teigler-Schlegel, A., zur Stadt, U., Lentes, J., Goehring, G., Kustanovich, A., Aleinikova, O., Schafer, B. W., Kubetzko, S., Madsen, H. O., Gruhn, B., Duarte, X., Gameiro, P., Lippert, E., Bidet, A., Cayuela, J. M., Clappier, E., Alonso, C. N., Zwaan, C. M., van den Heuvel-Eibrink, M. M., Izraeli, S., Trakhtenbrot, L., Archer, P., Hancock, J., Moericke, A., Alten, J., Schrappe, M., Stanulla, M., Strehl, S., Attarbaschi, A., Dworzak, M., Haas, O. A., Panzer-Gruemayer, R., Sedek, L., Szczepanski, T., Caye, A., Suarez, L., Cave, H., and Marschalek, R.

Published
2018

9. The MLL recombinome of acute leukemias in 2017

Author

Hubrecht Institute with UMC, Meyer, C, Burmeister, T, Gröger, D, Tsaur, G, Fechina, L, Renneville, A, Sutton, R, Venn, N C, Emerenciano, M, Pombo-de-Oliveira, M S, Barbieri Blunck, C, Almeida Lopes, B, Zuna, J, Trka, J, Ballerini, P, Lapillonne, H, De Braekeleer, M, Cazzaniga, G, Corral Abascal, L, van der Velden, V H J, Delabesse, E, Park, T S, Oh, S H, Silva, M L M, Lund-Aho, T, Juvonen, V, Moore, A S, Heidenreich, O, Vormoor, J, Zerkalenkova, E, Olshanskaya, Y, Bueno, C, Menendez, P, Teigler-Schlegel, A, Zur Stadt, U, Lentes, J, Göhring, G, Kustanovich, A, Aleinikova, O, Schäfer, B W, Kubetzko, S, Madsen, H O, Gruhn, B, Duarte, X, Gameiro, P, Lippert, E, Bidet, A, Cayuela, J M, Clappier, E, Alonso, C N, Zwaan, C M, van den Heuvel-Eibrink, M M, Izraeli, S, Trakhtenbrot, L, Archer, P, Hancock, J, Möricke, A, Alten, J, Schrappe, M, Stanulla, M, Strehl, S, Attarbaschi, A, Dworzak, M, Haas, O A, Panzer-Grümayer, R, Sedék, L, Szczepański, T, Caye, A, Suarez, L, Cavé, H, Marschalek, R, Hubrecht Institute with UMC, Meyer, C, Burmeister, T, Gröger, D, Tsaur, G, Fechina, L, Renneville, A, Sutton, R, Venn, N C, Emerenciano, M, Pombo-de-Oliveira, M S, Barbieri Blunck, C, Almeida Lopes, B, Zuna, J, Trka, J, Ballerini, P, Lapillonne, H, De Braekeleer, M, Cazzaniga, G, Corral Abascal, L, van der Velden, V H J, Delabesse, E, Park, T S, Oh, S H, Silva, M L M, Lund-Aho, T, Juvonen, V, Moore, A S, Heidenreich, O, Vormoor, J, Zerkalenkova, E, Olshanskaya, Y, Bueno, C, Menendez, P, Teigler-Schlegel, A, Zur Stadt, U, Lentes, J, Göhring, G, Kustanovich, A, Aleinikova, O, Schäfer, B W, Kubetzko, S, Madsen, H O, Gruhn, B, Duarte, X, Gameiro, P, Lippert, E, Bidet, A, Cayuela, J M, Clappier, E, Alonso, C N, Zwaan, C M, van den Heuvel-Eibrink, M M, Izraeli, S, Trakhtenbrot, L, Archer, P, Hancock, J, Möricke, A, Alten, J, Schrappe, M, Stanulla, M, Strehl, S, Attarbaschi, A, Dworzak, M, Haas, O A, Panzer-Grümayer, R, Sedék, L, Szczepański, T, Caye, A, Suarez, L, Cavé, H, and Marschalek, R

Published
2018

10. The MLL recombinome of acute leukemias in 2017

Author

Meyer, C, primary, Burmeister, T, additional, Gröger, D, additional, Tsaur, G, additional, Fechina, L, additional, Renneville, A, additional, Sutton, R, additional, Venn, N C, additional, Emerenciano, M, additional, Pombo-de-Oliveira, M S, additional, Barbieri Blunck, C, additional, Almeida Lopes, B, additional, Zuna, J, additional, Trka, J, additional, Ballerini, P, additional, Lapillonne, H, additional, De Braekeleer, M, additional, Cazzaniga, G, additional, Corral Abascal, L, additional, van der Velden, V H J, additional, Delabesse, E, additional, Park, T S, additional, Oh, S H, additional, Silva, M L M, additional, Lund-Aho, T, additional, Juvonen, V, additional, Moore, A S, additional, Heidenreich, O, additional, Vormoor, J, additional, Zerkalenkova, E, additional, Olshanskaya, Y, additional, Bueno, C, additional, Menendez, P, additional, Teigler-Schlegel, A, additional, zur Stadt, U, additional, Lentes, J, additional, Göhring, G, additional, Kustanovich, A, additional, Aleinikova, O, additional, Schäfer, B W, additional, Kubetzko, S, additional, Madsen, H O, additional, Gruhn, B, additional, Duarte, X, additional, Gameiro, P, additional, Lippert, E, additional, Bidet, A, additional, Cayuela, J M, additional, Clappier, E, additional, Alonso, C N, additional, Zwaan, C M, additional, van den Heuvel-Eibrink, M M, additional, Izraeli, S, additional, Trakhtenbrot, L, additional, Archer, P, additional, Hancock, J, additional, Möricke, A, additional, Alten, J, additional, Schrappe, M, additional, Stanulla, M, additional, Strehl, S, additional, Attarbaschi, A, additional, Dworzak, M, additional, Haas, O A, additional, Panzer-Grümayer, R, additional, Sedék, L, additional, Szczepański, T, additional, Caye, A, additional, Suarez, L, additional, Cavé, H, additional, and Marschalek, R, additional

Published
2017
Full Text
View/download PDF

11. CRAYON SHARKS: UM ESTUDO DE CASO SOBRE O DESIGN E APLICAÇÃO DE UM JOGO DIGITAL PARA O ENSINO DE CIÊNCIAS.

Author

SILVA, M. L. M. and de ARAUJO, R. M.

Abstract

The methodologies used for science teaching have varied widely in recent decades mainly due to the changes that have occurred in society and therefore in schools. Taking into account the reality of the digital games market and the dissemination of new technologies among young people nowadays, we can verify the impact that the casual use of these new media have in the classroom. This scenario features a new opportunity to promote the engagement and involvement of students In case the teacher insert digital games within the formal educational process to present lessons with different methodologies and using a technology that is part of the social context of students. This work presents an argument about the relevance of the use of digital games in the classroom and theorizes the teacher performance on design processes and application of educational games. It also describes the stages of development and application of a prototype of a digital educational game focused on science teaching in a class of 7th grade of an elementary school on a public school in the city of Macau/RN. As a result, based on the analysis of questionnaires responses and on the observation of the students' reactions during the applying dynamic of the digital game, it was possible to verify the acceptance of the proposal by all the participant students. The game was characterized as a fun experience that facilitates or encourages learning and helps the understanding of concepts related to the discipline of Science in a more attractive way. [ABSTRACT FROM AUTHOR]

Published
2017
Full Text
View/download PDF

12. The MLL recombinome of acute leukemias in 2013

Author

Meyer, C, Hofmann, J, Burmeister, T, Gröger, D, Park, T, Emerenciano, M, Pombo de Oliveira, M, Renneville, A, Villarese, P, Macintyre, E, Cavé, H, Clappier, E, Mass-Malo, K, Zuna, J, Trka, J, De Braekeleer, E, De Braekeleer, M, Oh, S, Tsaur, G, Fechina, L, van der Velden, V, van Dongen, J, Delabesse, E, Binato, R, Silva, M, Kustanovich, A, Aleinikova, O, Harris, M, Lund-Aho, T, Juvonen, V, Heidenreich, O, Vormoor, J, Choi, W, Jarosova, M, Kolenova, A, Bueno, C, Menendez, P, Wehner, S, Eckert, C, Talmant, P, Tondeur, S, Lippert, E, Launay, E, Henry, C, Ballerini, P, Lapillone, H, Callanan, M, Cayuela, J, Herbaux, C, Cazzaniga, G, Kakadiya, P, Bohlander, S, Ahlmann, M, Choi, J, Gameiro, P, Lee, D, Krauter, J, Cornillet-Lefebvre, P, Te Kronnie, G, Schäfer, B, Kubetzko, S, Alonso, C, zur Stadt, U, Sutton, R, Venn, N, Izraeli, S, Trakhtenbrot, L, Madsen, H, Archer, P, Hancock, J, Cerveira, N, Teixeira, M, Lo Nigro, L, Möricke, A, Stanulla, M, Schrappe, M, Sedék, L, Szczepański, T, Zwaan, C, Coenen, E, van den Heuvel-Eibrink, M, Strehl, S, Dworzak, M, Panzer-Grümayer, R, Dingermann, T, Klingebiel, T, Marschalek, R, Park, T S, Oh, S H, van der Velden, V H J, van Dongen, J J M, Silva, M L M, Harris, M H, Choi, W W L, Callanan, M B, Cayuela, J M, Kakadiya, P M, Choi, J R, Lee, D S, Schäfer, B W, Alonso, C N, Venn, N C, Madsen, H O, Teixeira, M R, Zwaan, C M, Coenen, E A, van den Heuvel-Eibrink, M M, Meyer, C, Hofmann, J, Burmeister, T, Gröger, D, Park, T, Emerenciano, M, Pombo de Oliveira, M, Renneville, A, Villarese, P, Macintyre, E, Cavé, H, Clappier, E, Mass-Malo, K, Zuna, J, Trka, J, De Braekeleer, E, De Braekeleer, M, Oh, S, Tsaur, G, Fechina, L, van der Velden, V, van Dongen, J, Delabesse, E, Binato, R, Silva, M, Kustanovich, A, Aleinikova, O, Harris, M, Lund-Aho, T, Juvonen, V, Heidenreich, O, Vormoor, J, Choi, W, Jarosova, M, Kolenova, A, Bueno, C, Menendez, P, Wehner, S, Eckert, C, Talmant, P, Tondeur, S, Lippert, E, Launay, E, Henry, C, Ballerini, P, Lapillone, H, Callanan, M, Cayuela, J, Herbaux, C, Cazzaniga, G, Kakadiya, P, Bohlander, S, Ahlmann, M, Choi, J, Gameiro, P, Lee, D, Krauter, J, Cornillet-Lefebvre, P, Te Kronnie, G, Schäfer, B, Kubetzko, S, Alonso, C, zur Stadt, U, Sutton, R, Venn, N, Izraeli, S, Trakhtenbrot, L, Madsen, H, Archer, P, Hancock, J, Cerveira, N, Teixeira, M, Lo Nigro, L, Möricke, A, Stanulla, M, Schrappe, M, Sedék, L, Szczepański, T, Zwaan, C, Coenen, E, van den Heuvel-Eibrink, M, Strehl, S, Dworzak, M, Panzer-Grümayer, R, Dingermann, T, Klingebiel, T, Marschalek, R, Park, T S, Oh, S H, van der Velden, V H J, van Dongen, J J M, Silva, M L M, Harris, M H, Choi, W W L, Callanan, M B, Cayuela, J M, Kakadiya, P M, Choi, J R, Lee, D S, Schäfer, B W, Alonso, C N, Venn, N C, Madsen, H O, Teixeira, M R, Zwaan, C M, Coenen, E A, and van den Heuvel-Eibrink, M M

Abstract

Chromosomal rearrangements of the human MLL (mixed lineage leukemia) gene are associated with high-risk infant, pediatric, adult and therapy-induced acute leukemias. We used long-distance inverse-polymerase chain reaction to characterize the chromosomal rearrangement of individual acute leukemia patients. We present data of the molecular characterization of 1590 MLL-rearranged biopsy samples obtained from acute leukemia patients. The precise localization of genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and novel TPGs identified. All patients were classified according to their gender (852 females and 745 males), age at diagnosis (558 infant, 416 pediatric and 616 adult leukemia patients) and other clinical criteria. Combined data of our study and recently published data revealed a total of 121 different MLL rearrangements, of which 79 TPGs are now characterized at the molecular level. However, only seven rearrangements seem to be predominantly associated with illegitimate recombinations of the MLL gene (≈ 90%): AFF1/AF4, MLLT3/AF9, MLLT1/ENL, MLLT10/AF10, ELL, partial tandem duplications (MLL PTDs) and MLLT4/AF6, respectively. The MLL breakpoint distributions for all clinical relevant subtypes (gender, disease type, age at diagnosis, reciprocal, complex and therapy-induced translocations) are presented. Finally, we present the extending network of reciprocal MLL fusions deriving from complex rearrangements.

Published
2013

13. The MLL recombinome of acute leukemias in 2013

Author

Meyer, C, primary, Hofmann, J, additional, Burmeister, T, additional, Gröger, D, additional, Park, T S, additional, Emerenciano, M, additional, Pombo de Oliveira, M, additional, Renneville, A, additional, Villarese, P, additional, Macintyre, E, additional, Cavé, H, additional, Clappier, E, additional, Mass-Malo, K, additional, Zuna, J, additional, Trka, J, additional, De Braekeleer, E, additional, De Braekeleer, M, additional, Oh, S H, additional, Tsaur, G, additional, Fechina, L, additional, van der Velden, V H J, additional, van Dongen, J J M, additional, Delabesse, E, additional, Binato, R, additional, Silva, M L M, additional, Kustanovich, A, additional, Aleinikova, O, additional, Harris, M H, additional, Lund-Aho, T, additional, Juvonen, V, additional, Heidenreich, O, additional, Vormoor, J, additional, Choi, W W L, additional, Jarosova, M, additional, Kolenova, A, additional, Bueno, C, additional, Menendez, P, additional, Wehner, S, additional, Eckert, C, additional, Talmant, P, additional, Tondeur, S, additional, Lippert, E, additional, Launay, E, additional, Henry, C, additional, Ballerini, P, additional, Lapillone, H, additional, Callanan, M B, additional, Cayuela, J M, additional, Herbaux, C, additional, Cazzaniga, G, additional, Kakadiya, P M, additional, Bohlander, S, additional, Ahlmann, M, additional, Choi, J R, additional, Gameiro, P, additional, Lee, D S, additional, Krauter, J, additional, Cornillet-Lefebvre, P, additional, Te Kronnie, G, additional, Schäfer, B W, additional, Kubetzko, S, additional, Alonso, C N, additional, zur Stadt, U, additional, Sutton, R, additional, Venn, N C, additional, Izraeli, S, additional, Trakhtenbrot, L, additional, Madsen, H O, additional, Archer, P, additional, Hancock, J, additional, Cerveira, N, additional, Teixeira, M R, additional, Lo Nigro, L, additional, Möricke, A, additional, Stanulla, M, additional, Schrappe, M, additional, Sedék, L, additional, Szczepański, T, additional, Zwaan, C M, additional, Coenen, E A, additional, van den Heuvel-Eibrink, M M, additional, Strehl, S, additional, Dworzak, M, additional, Panzer-Grümayer, R, additional, Dingermann, T, additional, Klingebiel, T, additional, and Marschalek, R, additional

Published
2013
Full Text
View/download PDF

17. The antimeningococcal vaccine VAMENGOC BC induced poor serum and salivary antibody response in young Brazilian children

Author

CARBONARE, S. B., ARSLANIAN, C., SILVA, M. L. M., FARHAT, C. K., and CARNEIRO-SAMPAIO, M. M. S.

Abstract

In 1989 about 2.3 million Brazilian children received the antimeningococcal vaccine VAMENGOC B-C (Havana, Cuba). We evaluated the serum and secretory immune response of vaccinated children by enzyme-linked immunosorbent assay with outer membrane complex antigens. Western blotting and bacterial adherence inhibition assays with human buccal epithelial cells were performed with some of the samples. Serum and salivary antibody concentrations to Neisseriameningitidis Group B of vaccinated children <4 years old were not significantly higher than those of nonvaccinated children, as observed in convalescing patients used as positive controls. Older children (4 to 6 years old) presented a slight increase in antibody OD indexes. Sera and saliva from vaccinated children showed a weak reaction with meningococcal antigen by Western blotting and were unable to inhibit significantly the adherence of N. meningitidis B to buccal epithelial cells. These data suggest that this vaccine induced a poor serum and salivary antibody response in the population studied.

Published
1995

23. The MLL recombinome of acute leukemias in 2017.

Author

Meyer C, Burmeister T, Gröger D, Tsaur G, Fechina L, Renneville A, Sutton R, Venn NC, Emerenciano M, Pombo-de-Oliveira MS, Barbieri Blunck C, Almeida Lopes B, Zuna J, Trka J, Ballerini P, Lapillonne H, De Braekeleer M, Cazzaniga G, Corral Abascal L, van der Velden VHJ, Delabesse E, Park TS, Oh SH, Silva MLM, Lund-Aho T, Juvonen V, Moore AS, Heidenreich O, Vormoor J, Zerkalenkova E, Olshanskaya Y, Bueno C, Menendez P, Teigler-Schlegel A, Zur Stadt U, Lentes J, Göhring G, Kustanovich A, Aleinikova O, Schäfer BW, Kubetzko S, Madsen HO, Gruhn B, Duarte X, Gameiro P, Lippert E, Bidet A, Cayuela JM, Clappier E, Alonso CN, Zwaan CM, van den Heuvel-Eibrink MM, Izraeli S, Trakhtenbrot L, Archer P, Hancock J, Möricke A, Alten J, Schrappe M, Stanulla M, Strehl S, Attarbaschi A, Dworzak M, Haas OA, Panzer-Grümayer R, Sedék L, Szczepański T, Caye A, Suarez L, Cavé H, and Marschalek R

Subjects
Adult, Child, Chromosome Aberrations, Chromosome Breakage, Female, Gene Rearrangement genetics, Humans, Infant, Male, Oncogene Proteins, Fusion genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma genetics, Translocation, Genetic genetics, Histone-Lysine N-Methyltransferase genetics, Leukemia, Myeloid, Acute genetics, Myeloid-Lymphoid Leukemia Protein genetics
Abstract

Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. We observed an age-dependent breakpoint shift with breakpoints localizing within MLL intron 11 associated with acute lymphoblastic leukemia and younger patients, while breakpoints in MLL intron 9 predominate in AML or older patients. The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients.

Published
2018
Full Text
View/download PDF

24. An unusual cytogenetic rearrangement originating from two different abnormalities in chromosome 6 in a child with acute promyelocytic leukemia.

Author

Matos RR, Mkrtchyan H, Amaral BA, Liehr T, de Souza MT, Ney-Garcia DR, Santos N, Marques-Salles TJ, Ribeiro RC, Figueiredo AF, and Silva ML

Subjects
Child, Chromosome Banding, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 17, Humans, In Situ Hybridization, Fluorescence, Male, Chromosomes, Human, Pair 6, Gene Rearrangement, Leukemia, Promyelocytic, Acute genetics, Translocation, Genetic genetics
Abstract

Acute promyelocytic leukemia (APL) is usually associated with a favorable outcome, but about 10% of patients tend to relapse. The genetic hallmark of APL is a balanced translocation involving chromosomes 15 and 17, and the PML-RARa gene fusion is found in more than 90% of these cases. Other chromosomal abnormalities are commonly found in APL, but their clinical significance has yet to be determined. Here we report a case of childhood APL that was studied by conventional cytogenetics along with molecular cytogenetic techniques. The patient showed a complex karyotype with an unusual cytogenetic rearrangement originating from two different abnormalities in a single chromosome 6. Our case is an exceptional example of a cryptic cytogenetic anomaly in APL and underscores the importance of detailed genetic characterization., (Copyright © 2013 S. Karger AG, Basel.)

Published
2013
Full Text
View/download PDF

25. Identification of a de novo inv dup(X)(pter--> q22) by multicolor banding in a girl with Turner syndrome.

Author

Burégio-Frota P, Valença L, Leal GF, Duarte AR, Bispo-Brito AV, Soares-Ventura EM, Marques-Salles TJ, Nogueira MT, Muniz MT, Silva ML, Hunstig F, Liehr T, and Santos N

Subjects
Adolescent, Adult, Child, Female, Humans, Infant, Newborn, Karyotyping, Pregnancy, Young Adult, Chromosome Banding, Chromosome Inversion genetics, Gene Duplication, Turner Syndrome genetics
Abstract

We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic karyotype of 46,X,dup(X)(q22)[35]/45,X[15], confirming the clinical suspicion of Turner syndrome. Molecular cytogenetics using a multicolor banding probe set for the X-chromosome characterized an inverted dup(X). The karyotype of the patient was therefore interpreted as 46,X,inv dup(X) (pter --> q22::q22 --> pter). This patient had a mosaic Turner syndrome with a cell line comprising partial trisomy Xpter to Xq22 and partial monosomy Xq22 to Xqter.

Published
2010
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results