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1. Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication

Author

Vaisvilas M, Dirse V, Aleksiuniene B, Tamuliene I, Cimbalistiene L, Utkus A, and Rascon J

Subjects
congenital heart defect, facial dysmorphia, leukemia, leukemogensis, malrotation of the intestine, tbx1 gene, 22q11.1q11.22 duplication, Genetics, QH426-470
Abstract

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild symptoms. Both benign and malignant hematological entities are rare. A male patient was diagnosed with mild facial dysmorphia, congenital heart anomalies shortly after birth and acute bowel obstruction due to malrotation of the intestine at the age of 3 years. A whole-genome single nucleotide polymorphism (SNP) array revealed a de novo 6.6 Mb duplication in the 22q11.1q11.22 chromosomal region. A year later, the patient was diagnosed with acute pre-B lymphoblastic leukemia (pre-B ALL). Five genes, CDC45, CLTCL1, DGCR2, GP1BB and SEPT5, in the 22q11.1q11.22 region are potentially responsible for cell cycle division. We hypothesized that dosage imbalance of genes implicated in the rearrangement could have disrupted the balance between cell growth and differentiation and played a role in the initiation of malignancy with a hyperdiploid leukemic clone, whereas over-expression of the TBX1 gene might have been responsible for congenital heart defects and mild facial dysmorphia.

Published
2018
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5. Coexistence of immune-mediated diseases in sarcoidosis. Frequency and clinical significance in 1737 patients

Author

De-Escalante, B., Chara-Cervantes, J., Pérez-Conesa, M., Rascón, J., Pallarés, L., Perez-Guerrero, P., De-la-Red, G., Calvo, E., Soler, C., Peral-Gutiérrez, E., Gómez-Cerezo, J.F., Rodríguez-Fernández, S., Pinilla, B., Toledo-Samaniego, N., Gato, A., Chamorro, A.J., Morcillo, C., Ojeda, I., Vives, M.J., de-Miguel, B., Penadés, M., De-Vicente, M., Brito-Zerón, Pilar, Pérez-Alvarez, Roberto, Feijoo-Massó, Carles, Gracia-Tello, Borja, González-García, Andres, Gómez-de-la-Torre, Ricardo, Alguacil, Ana, López-Dupla, Miguel, Robles, Angel, Garcia-Morillo, Salvador, Bonet, Mariona, Cruz-Caparrós, Gracia, Fonseca-Aizpuru, Eva, Akasbi, Miriam, Callejas, Jose Luis, de Miguel-Campo, Borja, Pérez-de-Lis, Marta, and Ramos-Casals, Manuel

Published
2021
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7. Systemic phenotype of sarcoidosis associated with radiological stages. Analysis of 1230 patients

Author

Pérez-Alvarez, R., Brito-Zerón, P., Kostov, B., Feijoo-Massó, C., Fraile, G., Gómez-de-la-Torre, R., De-Escalante, B., López-Dupla, M., Alguacil, A., Chara-Cervantes, J., Pérez-Conesa, M., Rascón, J., Garcia-Morillo, J.S., Perez-Guerrero, P., Fonseca-Aizpuru, E., Akasbi, M., Bonet, M., Callejas, J.L., De-la-Red, G., Calvo, E., Soler, C., Peral-Gutiérrez, E., Gómez-Cerezo, J.F., Cruz-Caparrós, G., Rodríguez-Fernández, S., Pinilla, B., Gato, A., Chamorro, A.J., Morcillo, C., Robles, A., Ojeda, I., Vives, M.J., de Miguel-Campo, B., Penadés, M., De-Vicente, M., Bosch, X., Pérez-de-Lis, M., González-García, A., Yllera, C., Gracia-Tello, B., Perez-Gonzalez, A., Pedrosa-Aragón, M., Tolosa, C., Sisó-Almirall, A., Pallarés, L., and Ramos-Casals, M.

Published
2019
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11. Correction: Myeloablative conditioning for allo-HSCT in pediatric ALL: FTBI or chemotherapy?—A multicenter EBMT-PDWP study (Bone Marrow Transplantation, (2020), 55, 8, (1540-1551), 10.1038/s41409-020-0854-0)

Author

Willasch A. M., Willasch, A, Peters, C, Sedlacek, P, Dalle, J, Kitra-Roussou, V, Yesilipek, A, Wachowiak, J, Lankester, A, Prete, A, Hamidieh, A, Ifversen, M, Buechner, J, Krivan, G, Hamladji, R, Diaz-de-Heredia, C, Skorobogatova, E, Michel, G, Locatelli, F, Bertaina, A, Veys, P, Dupont, S, Or, R, Gungor, T, Aleinikova, O, Sufliarska, S, Sundin, M, Rascon, J, Kaare, A, Nemet, D, Fagioli, F, Klingebiel, T, Styczynski, J, Bierings, M, Nagy, K, Abecasis, M, Afanasyev, B, Ansari, M, Vettenranta, K, Alseraihy, A, Chybicka, A, Robinson, S, Bertrand, Y, Kupesiz, A, Ghavamzadeh, A, Campos, A, Pichler, H, Dalissier, A, Labopin, M, Corbacioglu, S, Balduzzi, A, Galimard, J, Bader, P, Willasch A. M., Peters C., Sedlacek P., Dalle J. -H., Kitra-Roussou V., Yesilipek A., Wachowiak J., Lankester A., Prete A., Hamidieh A. A., Ifversen M., Buechner J., Krivan G., Hamladji R. -M., Diaz-de-Heredia C., Skorobogatova E., Michel G., Locatelli F., Bertaina A., Veys P., Dupont S., Or R., Gungor T., Aleinikova O., Sufliarska S., Sundin M., Rascon J., Kaare A., Nemet D., Fagioli F., Klingebiel T. E., Styczynski J., Bierings M., Nagy K., Abecasis M., Afanasyev B., Ansari M., Vettenranta K., Alseraihy A., Chybicka A., Robinson S., Bertrand Y., Kupesiz A., Ghavamzadeh A., Campos A., Pichler H., Dalissier A., Labopin M., Corbacioglu S., Balduzzi A., Galimard J. -E., Bader P., Willasch A. M., Willasch, A, Peters, C, Sedlacek, P, Dalle, J, Kitra-Roussou, V, Yesilipek, A, Wachowiak, J, Lankester, A, Prete, A, Hamidieh, A, Ifversen, M, Buechner, J, Krivan, G, Hamladji, R, Diaz-de-Heredia, C, Skorobogatova, E, Michel, G, Locatelli, F, Bertaina, A, Veys, P, Dupont, S, Or, R, Gungor, T, Aleinikova, O, Sufliarska, S, Sundin, M, Rascon, J, Kaare, A, Nemet, D, Fagioli, F, Klingebiel, T, Styczynski, J, Bierings, M, Nagy, K, Abecasis, M, Afanasyev, B, Ansari, M, Vettenranta, K, Alseraihy, A, Chybicka, A, Robinson, S, Bertrand, Y, Kupesiz, A, Ghavamzadeh, A, Campos, A, Pichler, H, Dalissier, A, Labopin, M, Corbacioglu, S, Balduzzi, A, Galimard, J, Bader, P, Willasch A. M., Peters C., Sedlacek P., Dalle J. -H., Kitra-Roussou V., Yesilipek A., Wachowiak J., Lankester A., Prete A., Hamidieh A. A., Ifversen M., Buechner J., Krivan G., Hamladji R. -M., Diaz-de-Heredia C., Skorobogatova E., Michel G., Locatelli F., Bertaina A., Veys P., Dupont S., Or R., Gungor T., Aleinikova O., Sufliarska S., Sundin M., Rascon J., Kaare A., Nemet D., Fagioli F., Klingebiel T. E., Styczynski J., Bierings M., Nagy K., Abecasis M., Afanasyev B., Ansari M., Vettenranta K., Alseraihy A., Chybicka A., Robinson S., Bertrand Y., Kupesiz A., Ghavamzadeh A., Campos A., Pichler H., Dalissier A., Labopin M., Corbacioglu S., Balduzzi A., Galimard J. -E., and Bader P.

Abstract

The article “Myeloablative conditioning for allo-HSCT in pediatric ALL: FTBI or chemotherapy?—A multicenter EBMT-PDWP study,” written by Andre Manfred Willasch, Christina Peters, Petr Sedlácek, Jean-Hugues Dalle, Vassiliki Kitra-Roussou, Akif Yesilipek, Jacek Wachowiak, Arjan Lankester, Arcangelo Prete, Amir Ali Hamidieh, Marianne Ifversen, Jochen Buechner, Gergely Kriván, Rose-Marie Hamladji, Cristina Diaz-de-Heredia, Elena Skorobogatova, Gérard Michel, Franco Locatelli, Alice Bertaina, Paul Veys, Sophie Dupont, Reuven Or, Tayfun Güngör, Olga Aleinikova, Sabina Sufliarska, Mikael Sundin, Jelena Rascon, Ain Kaare, Damir Nemet, Franca Fagioli, Thomas Erich Klingebiel, Jan Styczynski, Marc Bierings, Kálmán Nagy, Manuel Abecasis, Boris Afanasyev, Marc Ansari, Kim Vettenranta, Amal Alseraihy, Alicja Chybicka, Stephen Robinson, Yves Bertrand, Alphan Kupesiz, Ardeshir Ghavamzadeh, Antonio Campos, Herbert Pichler, Arnaud Dalissier, Myriam Labopin, Selim Corbacioglu, Adriana Balduzzi, Jacques-Emmanuel Galimard, Peter Bader, on behalf of the EBMT Paediatric Diseases Working Party, was originally published online first without Open Access. After publication in volume 55, issue 8, page 1540–1551, the author decided to opt for Open Choice and to make the article an Open Access publication. Therefore, the copyright of the article has been changed to © The Author(s) 2020 and the article is forthwith distributed under the terms of the Creative Commons Attribution 4.0 InternationalS License, which permits use, sharing, adaptation, distribution, and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third-party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Comm

Published
2021

12. Current practices on diagnosis, prevention and treatment of post-transplant lymphoproliferative disorder in pediatric patients after solid organ transplantation: Results of ern transplantchild healthcareworking group survey

Author

Baker, A, Remacha, E, Canizales, J, Bravo-Gallego, L, Fitzpatrick, E, Melgar, A, Bartolo, G, Guereta, L, Boluda, E, Mozo, Y, Broniszczak, D, Jarmuzek, W, Kalicinski, P, Maecker-Kolhoff, B, Carlens, J, Baumann, U, Roy, C, Chardot, C, Benetti, E, Cananzi, M, Calore, E, Dello Strologo, L, Candusso, M, Lopes, M, Brito, M, Goncalves, C, Do Carmo, C, Stephenne, X, Wennberg, L, Stone, R, Rascon, J, Lindemans, C, Turkiewicz, D, Giraldi, E, Nicastro, E, D'Antiga, L, Ackermann, O, Vega, P, Baker A., Remacha E. F., Canizales J. T., Bravo-Gallego L. Y., Fitzpatrick E., Melgar A. A., Bartolo G. M., Guereta L. G., Boluda E. R., Mozo Y., Broniszczak D., Jarmuzek W., Kalicinski P., Maecker-Kolhoff B., Carlens J., Baumann U., Roy C., Chardot C., Benetti E., Cananzi M., Calore E., Dello Strologo L., Candusso M., Lopes M. F., Brito M. J., Goncalves C., Do Carmo C., Stephenne X., Wennberg L., Stone R., Rascon J., Lindemans C., Turkiewicz D., Giraldi E., Nicastro E., D'Antiga L., Ackermann O., Vega P. J., Baker, A, Remacha, E, Canizales, J, Bravo-Gallego, L, Fitzpatrick, E, Melgar, A, Bartolo, G, Guereta, L, Boluda, E, Mozo, Y, Broniszczak, D, Jarmuzek, W, Kalicinski, P, Maecker-Kolhoff, B, Carlens, J, Baumann, U, Roy, C, Chardot, C, Benetti, E, Cananzi, M, Calore, E, Dello Strologo, L, Candusso, M, Lopes, M, Brito, M, Goncalves, C, Do Carmo, C, Stephenne, X, Wennberg, L, Stone, R, Rascon, J, Lindemans, C, Turkiewicz, D, Giraldi, E, Nicastro, E, D'Antiga, L, Ackermann, O, Vega, P, Baker A., Remacha E. F., Canizales J. T., Bravo-Gallego L. Y., Fitzpatrick E., Melgar A. A., Bartolo G. M., Guereta L. G., Boluda E. R., Mozo Y., Broniszczak D., Jarmuzek W., Kalicinski P., Maecker-Kolhoff B., Carlens J., Baumann U., Roy C., Chardot C., Benetti E., Cananzi M., Calore E., Dello Strologo L., Candusso M., Lopes M. F., Brito M. J., Goncalves C., Do Carmo C., Stephenne X., Wennberg L., Stone R., Rascon J., Lindemans C., Turkiewicz D., Giraldi E., Nicastro E., D'Antiga L., Ackermann O., and Vega P. J.

Abstract

(1) Background: Post-transplant lymphoproliferative disease (PTLD) is a significant complication of solid organ transplantation (SOT). However, there is lack of consensus in PTLD management. Our aim was to establish a present benchmark for comparison between international centers and between various organ transplant systems and modalities; (2) Methods: A cross-sectional questionnaire of relevant PTLD practices in pediatric transplantation was sent to multidisciplinary teams from 17 European center members of ERN TransplantChild to evaluate the centers’ approach strategies for diagnosis and treatment and how current practices impact a cross-sectional series of PTLD cases; (3) Results: A total of 34 SOT programs from 13 European centers participated. The decision to start preemptive treatment and its guidance was based on both EBV viremia monitoring plus additional laboratory methods and clinical assessment (61%). Among treatment modalities the most common initial practice at diagnosis was to reduce the immunosuppression (61%). A total of 126 PTLD cases were reported during the period 2012-2016. According to their histopathological classification, monomorphic lesions were the most frequent (46%). Graft rejection after PTLD remission was 33%. Of the total cases diagnosed with PTLD, 88% survived; (4) Conclusions: There is still no consensus on prevention and treatment of PTLD, which implies the need to generate evidence. This might successively allow the development of clinical guidelines.

Published
2021

13. Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe: The European Reference Network TransplantChild

Author

Jara, P, Baker, A, Baumann, U, Borobia, A, Branchereu, S, Candusso, M, Carcas, A, Chardot, C, Cobas, J, D'Antiga, L, Ferreras, C, Fitzpatrick, E, Frauca, E, Hernandez-Oliveros, F, Kalicinski, P, Lindemans, C, Lopes, M, Lopez-Granados, E, De Magnee, C, Mota, C, Munoz, J, Ojeda, J, Perez-Martinez, A, Perilongo, G, Rascon, J, Sciveres, M, Stone, R, Tarutis, V, Toporski, J, Torres, J, Wennberg, L, Jara P., Baker A., Baumann U., Borobia A. M., Branchereu S., Candusso M., Carcas A. J., Chardot C., Cobas J., D'Antiga L., Ferreras C., Fitzpatrick E., Frauca E., Hernandez-Oliveros F., Kalicinski P., Lindemans C., Lopes M. F., Lopez-Granados E., De Magnee C., Mota C., Munoz J. M., Ojeda J. J., Perez-Martinez A., Perilongo G., Rascon J., Sciveres M., Stone R., Tarutis V., Toporski J., Torres J. M., Wennberg L., Jara, P, Baker, A, Baumann, U, Borobia, A, Branchereu, S, Candusso, M, Carcas, A, Chardot, C, Cobas, J, D'Antiga, L, Ferreras, C, Fitzpatrick, E, Frauca, E, Hernandez-Oliveros, F, Kalicinski, P, Lindemans, C, Lopes, M, Lopez-Granados, E, De Magnee, C, Mota, C, Munoz, J, Ojeda, J, Perez-Martinez, A, Perilongo, G, Rascon, J, Sciveres, M, Stone, R, Tarutis, V, Toporski, J, Torres, J, Wennberg, L, Jara P., Baker A., Baumann U., Borobia A. M., Branchereu S., Candusso M., Carcas A. J., Chardot C., Cobas J., D'Antiga L., Ferreras C., Fitzpatrick E., Frauca E., Hernandez-Oliveros F., Kalicinski P., Lindemans C., Lopes M. F., Lopez-Granados E., De Magnee C., Mota C., Munoz J. M., Ojeda J. J., Perez-Martinez A., Perilongo G., Rascon J., Sciveres M., Stone R., Tarutis V., Toporski J., Torres J. M., and Wennberg L.

Abstract

The low prevalence of European paediatric transplanted patients and scarcity of resources and expertise led to the need for a multidisciplinary network able to improve the quality of life of paediatric patients and families requiring a solid organ or haematopoietic stem cell transplantation. The European Reference Network (ERN) TransplantChild is one of the 24 ERNs established in a European legal framework to improve the care of patients with rare diseases. ERN TransplantChild is the only ERN focused on both solid organ and haematopoietic stem cell paediatric transplantation, based on the understanding of paediatric transplantation as a complex and highly specialised process where specific complications appear regardless the organ involved, thus linking the skills and knowledge of different organ disciplines. Gathering European centres of expertise in paediatric transplantation will give access to a correct and timely diagnosis, share expertise and knowledge and collect a critical mass of patients and data that increases the speed and value of clinical research outcomes. Therefore, the ERN TransplantChild aims for a paediatric Pan-European, Pan-transplant approach.

Published
2020

14. Identification of Mexican maize races (Zea mays L.) with drought tolerance using osmotic potential experiments for genetic breeding.

Author

Batista-Rascon, J. A., Jiménez-Galindo, J. C., Ramírez-Cabral, N., Castellanos-Pérez, G., and Figueroa-Gonzalez, J. J.

Subjects
*DROUGHT tolerance, *INDIGENOUS peoples of Mexico, *OSMOTIC pressure, *POLYETHYLENE glycol, *GERMINATION, *CORN
Abstract

Maize (Zea mays L.) is the third most important cereal crop worldwide after wheat and rice per cultivated area with 249,225,876 hectares and the most important crop for number of harvested grain tons with 1,482,997,259 in 2021. Some native Mexican maize races could be a source for drought tolerance to improve commercial cultivars and hybrids. The experiments were conducted using various osmotic pressures (OP) induced by polyethylene glycol (PEG-6000) (0, -0.05, -0.15, -0.30 and -0.49 MPa) simulating an increase of drought stress in ten maize genotypes. The main objectives of this study were the evaluation of germination and seedling growth components in response to drought stress and the identification of sources of drought tolerance in Mexican maize races. Apachito-r showed an increased germination in 110.4%, Cristalino-079 had a decreased germination in 98.7% and Cristalino-279 reduced its germination in a 91.1% compared to the control. Apachito-r outstands in root length at -0.05 OP increasing 200.1% and at -0.49 increasing 129.8%. The values for stem length were decreasing as the OP was increasing and only Apachito-r showed a significant difference at -0.30 MPa decreasing 39.8% respect to its control. Cristalino-279 showed significant difference in the variable root fresh weight and its value outstand at -0.15 increasing 267.2%, at -0.30 increasing 281.6% and at -0.49 MPa increasing 189.3% compared to the control in water. The variable root dry weight had the highest value for Apachito-r at -0.05 MPa increasing in a 189.4%, decreasing at -0.15 in 72% and at -0.30 MPa in a 79.8% and increasing at -0.49 MPa in 112.3%. Also noteworthy are E-zapata-r increasing 190.5% and Cristalino-061 increasing 142.9% at -0.30. E-zapata-r at -0.49 increased 115.1%. Cristalino-279 showed significant difference in the variable stem fresh weight and its value outstand at -0.05, -0.15 and -0.30 MPa increasing 146.7%, 103.7% and 60.2% respectively. Finally, in stem dry weight the tendency was to decrease as OP was increasing, however Cristalino-279 showed differences at -0.30 decreasing in 89.5% and at -0.49 MPa increasing in a 143.5% respect to the control. The most drought tolerant genotypes were Cristalino-279, Apachito-r, Azul and 8-carreras-PP. The most tolerant genotypes showed greater root length, greater root fresh and dry weight, better germination and greater stem length. Resistant and susceptible genotypes are ideal material to understand the physical and chemical mechanisms related to drought tolerance. Cristalino-279 shows the best level of drought tolerance at all levels of osmotic pressure, this genotype can be used as a source of drought tolerance for the improvement of commercial maize. [ABSTRACT FROM AUTHOR]

Published
2023
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16. Transient abnormal myelopoiesis without constitutional Down syndrome

Author

Kairiene, I, Dirse, V, Mickys, U, Muleviciene, A, Vyas, P, and Rascon, J

Subjects
down syndrome, stomatognathic system, lcsh:R, lcsh:RJ1-570, transient abnormal myelopoiesis, lcsh:Medicine, lcsh:Pediatrics, skin and connective tissue diseases, hormones, hormone substitutes, and hormone antagonists, congenital leukemia, myelodysplastic syndrome
Abstract

Transient abnormal myelopoiesis (TAM) is a unique entity that usually occurs in children with Down syndrome (DS) or with trisomy 21 mosaicism. The somatic GATA1 mutation is a distinct feature of TAM. At presentation, TAM can resemble congenital leukemia (CL), which unlike TAM has an extremely poor prognosis and requires prompt therapeutic interventions. Therefore, correct and timely distinction between the two entities is crucial. We report a case of a phenotypically normal infant diagnosed with CL during the first weeks of life that retrospectively was reassessed as TAM. No acute myeloid leukemia (AML) specific mutations were found except for trisomy 21 confined exclusively to leukemic blasts. Retrospectively GATA1 mutation was also detected in malignant cells, but somatic genome appeared to be intact.

Published
2021

17. Correction: Myeloablative conditioning for allo-HSCT in pediatric ALL: FTBI or chemotherapy?—A multicenter EBMT-PDWP study (Bone Marrow Transplantation, (2020), 55, 8, (1540-1551), 10.1038/s41409-020-0854-0)

Author

Willasch, A. M., Peters, C., Sedlacek, P., Dalle, J. -H., Kitra-Roussou, V., Yesilipek, A., Wachowiak, J., Lankester, A., Prete, A., Hamidieh, A. A., Ifversen, M., Buechner, J., Krivan, G., Hamladji, R. -M., Diaz-de-Heredia, C., Skorobogatova, E., Michel, G., Locatelli, F., Bertaina, A., Veys, P., Dupont, S., Or, R., Gungor, T., Aleinikova, O., Sufliarska, S., Sundin, M., Rascon, J., Kaare, A., Nemet, D., Fagioli, F., Klingebiel, T. E., Styczynski, J., Bierings, M., Nagy, K., Abecasis, M., Afanasyev, B., Ansari, M., Vettenranta, K., Alseraihy, A., Chybicka, A., Robinson, S., Bertrand, Y., Kupesiz, A., Ghavamzadeh, A., Campos, A., Pichler, H., Dalissier, A., Labopin, M., Corbacioglu, S., Balduzzi, A., Galimard, J. -E., and Bader, P.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, conditioning regimens
Published
2021

18. The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

Author

Sharapova, S.O. (Svetlana O.), Skomska-Pawliszak, M. (Małgorzata), Rodina, Y.A. (Yulia A.), Wolska-Kusnierz, B. (Beata), Dabrowska-Leonik, N. (Nel), Mikoluc, B. (Bozena), Pashchenko, O.E. (Olga E.), Pasic, S. (Srdjan), Freiberger, T. (Tomáš), Milota, T. (Tomáš), Formánková, R. (Renata), Szaflarska, A. (Anna), Siedlar, M. (Maciej), Avcin, T. (Tadej), Markelj, G. (Gašper), Ciznar, P. (P.), Kalwak, K. (Krzysztof), Kołtan, S. (Sylwia), Jackowska, T. (Teresa), Drabko, K. (Katarzyna), Gagro, A. (Alenka), Pac, M. (Malgorzata), Naumova, E. (Elissaveta), Kandilarova, S. (Snezhina), Babol-Pokora, K. (Katarzyna), Varabyou, D.S. (Dzmitry S.), Barendregt, B.H. (Barbara), Raykina, E.V. (Elena V.), Varlamova, T.V. (Tatiana V.), Pavlova, A.V. (Anna V.), Grombirikova, H. (Hana), Debeljak, M. (Maruša), Mersiyanova, I.V. (Irina V.), Bondarenko, A.V. (Anastasiia V.), Chernyshova, L.I. (Liudmyla I.), Kostyuchenko, L. (Larysa), Guseva, M. (Marina), Rascon, J. (Jelena), Muleviciene, A. (Audrone), Preiksaitiene, E. (Egle), Geier, C.B. (Christoph B.), Leiss-Piller, A. (Alexander), Yamazaki, Y. (Yasuhiro), Kawai, T. (Tomoki), Walter, J.E. (Jolan E.), Kondratenko, I. (Irina), Sediva, A. (A.), Burg, M. (Mirjam) van der, Kuzmenko, N.B. (Natalia B.), Notarangelo, L.D. (Luigi Daniele), Bernatowska, E. (Ewa), Aleinikova, O. (O.), Sharapova, S.O. (Svetlana O.), Skomska-Pawliszak, M. (Małgorzata), Rodina, Y.A. (Yulia A.), Wolska-Kusnierz, B. (Beata), Dabrowska-Leonik, N. (Nel), Mikoluc, B. (Bozena), Pashchenko, O.E. (Olga E.), Pasic, S. (Srdjan), Freiberger, T. (Tomáš), Milota, T. (Tomáš), Formánková, R. (Renata), Szaflarska, A. (Anna), Siedlar, M. (Maciej), Avcin, T. (Tadej), Markelj, G. (Gašper), Ciznar, P. (P.), Kalwak, K. (Krzysztof), Kołtan, S. (Sylwia), Jackowska, T. (Teresa), Drabko, K. (Katarzyna), Gagro, A. (Alenka), Pac, M. (Malgorzata), Naumova, E. (Elissaveta), Kandilarova, S. (Snezhina), Babol-Pokora, K. (Katarzyna), Varabyou, D.S. (Dzmitry S.), Barendregt, B.H. (Barbara), Raykina, E.V. (Elena V.), Varlamova, T.V. (Tatiana V.), Pavlova, A.V. (Anna V.), Grombirikova, H. (Hana), Debeljak, M. (Maruša), Mersiyanova, I.V. (Irina V.), Bondarenko, A.V. (Anastasiia V.), Chernyshova, L.I. (Liudmyla I.), Kostyuchenko, L. (Larysa), Guseva, M. (Marina), Rascon, J. (Jelena), Muleviciene, A. (Audrone), Preiksaitiene, E. (Egle), Geier, C.B. (Christoph B.), Leiss-Piller, A. (Alexander), Yamazaki, Y. (Yasuhiro), Kawai, T. (Tomoki), Walter, J.E. (Jolan E.), Kondratenko, I. (Irina), Sediva, A. (A.), Burg, M. (Mirjam) van der, Kuzmenko, N.B. (Natalia B.), Notarangelo, L.D. (Luigi Daniele), Bernatowska, E. (Ewa), and Aleinikova, O. (O.)

Abstract

Background: Variants in recombination-activating genes (RAG) are common genetic causes of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe combined immunodeficiency (SCID), Omenn syndrome (OS), leaky SCID, and CID with granulomas and/or autoimmunity (CID-G/AI), and even milder presentation with antibody deficiency. Objective: We aim to estimate the incidence, clinical presentation, genetic variability, and treatment outcome with geographic distribution of patients with the RAG defects in populations inhabiting South, West, and East Slavic countries. Methods: Demographic, clinical, and laboratory data were collected from RAG-deficient patients of Slavic origin via chart review, retrospectively. Recombinase activity was determined in vitro by flow cytometry-based assay. Results: Based on the clinical and immunologic phenotype, our cohort of 82 patients from 68 families represented a wide spectrum of RAG deficiencies, including SCID (n = 20), OS (n = 37), and LS/CID (n = 25) phenotypes. Sixty-seven (81.7%) patients carried RAG1 and 15 patients (18.3%) carried RAG2 biallelic variants. We estimate that the minimal annual incidence of RAG deficiency in Slavic countries varies between 1 in 180,000 and 1 in 300,000 live births, and it may vary secondary to health care disparities in these regions. In our cohort, 70% (n = 47) of patients with RAG1 variants carried p.K86Vfs*33 (c.256_257delAA) allele, either in homozygous (n = 18, 27%) or in compound heterozygous (n = 29, 43%) form. The majority (77%) of patients with homozygous RAG1 p.K86Vfs*33 variant originated from Vistula watershed area in Central and Eastern Poland, and compound heterozygote cases were distributed among all Slavic countries except Bulgaria. Clinical and immunological presentation of homozygous RAG1 p.K86Vfs*33 cases was highly diverse (SCID, OS, and AS/CID) suggestive of strong influence of additional genetic and/or epigenetic factors in shaping the final phenotype. Con

Published
2020
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19. Myeloablative conditioning for allo-HSCT in pediatric ALL: FTBI or chemotherapy?—A multicenter EBMT-PDWP study

Author

Willasch, A. M., Peters, C., Sedlacek, P., Dalle, J. -H., Kitra-Roussou, V., Yesilipek, A., Wachowiak, J., Lankester, A., Prete, A., Hamidieh, A. A., Ifversen, M., Buechner, J., Krivan, G., Hamladji, R. -M., Diaz-de-Heredia, C., Skorobogatova, E., Michel, G., Locatelli, Franco, Bertaina, A., Veys, P., Dupont, S., Or, R., Gungor, T., Aleinikova, O., Sufliarska, S., Sundin, M., Rascon, J., Kaare, A., Nemet, D., Fagioli, F., Klingebiel, T. E., Styczynski, J., Bierings, M., Nagy, K., Abecasis, M., Afanasyev, B., Ansari, M., Vettenranta, K., Alseraihy, A., Chybicka, A., Robinson, S., Bertrand, Y., Kupesiz, A., Ghavamzadeh, A., Campos, A., Pichler, H., Dalissier, A., Labopin, M., Corbacioglu, S., Balduzzi, A., Galimard, J. -E., Bader, P., Locatelli F. (ORCID:0000-0002-7976-3654), Willasch, A. M., Peters, C., Sedlacek, P., Dalle, J. -H., Kitra-Roussou, V., Yesilipek, A., Wachowiak, J., Lankester, A., Prete, A., Hamidieh, A. A., Ifversen, M., Buechner, J., Krivan, G., Hamladji, R. -M., Diaz-de-Heredia, C., Skorobogatova, E., Michel, G., Locatelli, Franco, Bertaina, A., Veys, P., Dupont, S., Or, R., Gungor, T., Aleinikova, O., Sufliarska, S., Sundin, M., Rascon, J., Kaare, A., Nemet, D., Fagioli, F., Klingebiel, T. E., Styczynski, J., Bierings, M., Nagy, K., Abecasis, M., Afanasyev, B., Ansari, M., Vettenranta, K., Alseraihy, A., Chybicka, A., Robinson, S., Bertrand, Y., Kupesiz, A., Ghavamzadeh, A., Campos, A., Pichler, H., Dalissier, A., Labopin, M., Corbacioglu, S., Balduzzi, A., Galimard, J. -E., Bader, P., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Although most children with acute lymphoblastic leukemia (ALL) receive fractionated total body irradiation (FTBI) as myeloablative conditioning (MAC) for allogeneic hematopoietic stem cell transplantation (allo-HSCT), it is an important matter of debate if chemotherapy can effectively replace FTBI. To compare outcomes after FTBI versus chemotherapy-based conditioning (CC), we performed a retrospective EBMT registry study. Children aged 2–18 years after MAC for first allo-HSCT of bone marrow (BM) or peripheral blood stem cells (PBSC) from matched-related (MRD) or unrelated donors (UD) in first (CR1) or second remission (CR2) between 2000 and 2012 were included. Propensity score weighting was used to control pretreatment imbalances of the observed variables. 3.054 patients were analyzed. CR1 (1.498): median follow-up (FU) after FTBI (1.285) and CC (213) was 6.8 and 6.1 years. Survivals were not significantly different. CR2 (1.556): median FU after FTBI (1.345) and CC (211) was 6.2 years. Outcomes after FTBI were superior as compared with CC with regard to overall survival (OS), leukemia-free survival (LFS), relapse incidence (RI), and nonrelapse mortality (NRM). However, we must emphasize the preliminary character of the results of this retrospective “real-world-practice” study. These findings will be prospectively assessed in the ALL SCTped 2012 FORUM trial.

Published
2020

20. Myeloablative conditioning for allo-HSCT in pediatric ALL: FTBI or chemotherapy?—A multicenter EBMT-PDWP study

Author

Willasch, A, Peters, C, Sedláček, P, Dalle, J, Kitra-Roussou, V, Yesilipek, A, Wachowiak, J, Lankester, A, Prete, A, Hamidieh, A, Ifversen, M, Buechner, J, Kriván, G, Hamladji, R, Diaz-de-Heredia, C, Skorobogatova, E, Michel, G, Locatelli, F, Bertaina, A, Veys, P, Dupont, S, Or, R, Güngör, T, Aleinikova, O, Sufliarska, S, Sundin, M, Rascon, J, Kaare, A, Nemet, D, Fagioli, F, Klingebiel, T, Styczynski, J, Bierings, M, Nagy, K, Abecasis, M, Afanasyev, B, Ansari, M, Vettenranta, K, Alseraihy, A, Chybicka, A, Robinson, S, Bertrand, Y, Kupesiz, A, Ghavamzadeh, A, Campos, A, Pichler, H, Dalissier, A, Labopin, M, Corbacioglu, S, Balduzzi, A, Galimard, J, Bader, P, Willasch, Andre Manfred, Peters, Christina, Sedláček, Petr, Dalle, Jean-Hugues, Kitra-Roussou, Vassiliki, Yesilipek, Akif, Wachowiak, Jacek, Lankester, Arjan, Prete, Arcangelo, Hamidieh, Amir Ali, Ifversen, Marianne, Buechner, Jochen, Kriván, Gergely, Hamladji, Rose-Marie, Diaz-de-Heredia, Cristina, Skorobogatova, Elena, Michel, Gérard, Locatelli, Franco, Bertaina, Alice, Veys, Paul, Dupont, Sophie, Or, Reuven, Güngör, Tayfun, Aleinikova, Olga, Sufliarska, Sabina, Sundin, Mikael, Rascon, Jelena, Kaare, Ain, Nemet, Damir, Fagioli, Franca, Klingebiel, Thomas Erich, Styczynski, Jan, Bierings, Marc, Nagy, Kálmán, Abecasis, Manuel, Afanasyev, Boris, Ansari, Marc, Vettenranta, Kim, Alseraihy, Amal, Chybicka, Alicja, Robinson, Stephen, Bertrand, Yves, Kupesiz, Alphan, Ghavamzadeh, Ardeshir, Campos, Antonio, Pichler, Herbert, Dalissier, Arnaud, Labopin, Myriam, Corbacioglu, Selim, Balduzzi, Adriana, Galimard, Jacques-Emmanuel, Bader, Peter, Willasch, A, Peters, C, Sedláček, P, Dalle, J, Kitra-Roussou, V, Yesilipek, A, Wachowiak, J, Lankester, A, Prete, A, Hamidieh, A, Ifversen, M, Buechner, J, Kriván, G, Hamladji, R, Diaz-de-Heredia, C, Skorobogatova, E, Michel, G, Locatelli, F, Bertaina, A, Veys, P, Dupont, S, Or, R, Güngör, T, Aleinikova, O, Sufliarska, S, Sundin, M, Rascon, J, Kaare, A, Nemet, D, Fagioli, F, Klingebiel, T, Styczynski, J, Bierings, M, Nagy, K, Abecasis, M, Afanasyev, B, Ansari, M, Vettenranta, K, Alseraihy, A, Chybicka, A, Robinson, S, Bertrand, Y, Kupesiz, A, Ghavamzadeh, A, Campos, A, Pichler, H, Dalissier, A, Labopin, M, Corbacioglu, S, Balduzzi, A, Galimard, J, Bader, P, Willasch, Andre Manfred, Peters, Christina, Sedláček, Petr, Dalle, Jean-Hugues, Kitra-Roussou, Vassiliki, Yesilipek, Akif, Wachowiak, Jacek, Lankester, Arjan, Prete, Arcangelo, Hamidieh, Amir Ali, Ifversen, Marianne, Buechner, Jochen, Kriván, Gergely, Hamladji, Rose-Marie, Diaz-de-Heredia, Cristina, Skorobogatova, Elena, Michel, Gérard, Locatelli, Franco, Bertaina, Alice, Veys, Paul, Dupont, Sophie, Or, Reuven, Güngör, Tayfun, Aleinikova, Olga, Sufliarska, Sabina, Sundin, Mikael, Rascon, Jelena, Kaare, Ain, Nemet, Damir, Fagioli, Franca, Klingebiel, Thomas Erich, Styczynski, Jan, Bierings, Marc, Nagy, Kálmán, Abecasis, Manuel, Afanasyev, Boris, Ansari, Marc, Vettenranta, Kim, Alseraihy, Amal, Chybicka, Alicja, Robinson, Stephen, Bertrand, Yves, Kupesiz, Alphan, Ghavamzadeh, Ardeshir, Campos, Antonio, Pichler, Herbert, Dalissier, Arnaud, Labopin, Myriam, Corbacioglu, Selim, Balduzzi, Adriana, Galimard, Jacques-Emmanuel, and Bader, Peter

Abstract

Although most children with acute lymphoblastic leukemia (ALL) receive fractionated total body irradiation (FTBI) as myeloablative conditioning (MAC) for allogeneic hematopoietic stem cell transplantation (allo-HSCT), it is an important matter of debate if chemotherapy can effectively replace FTBI. To compare outcomes after FTBI versus chemotherapy-based conditioning (CC), we performed a retrospective EBMT registry study. Children aged 2-18 years after MAC for first allo-HSCT of bone marrow (BM) or peripheral blood stem cells (PBSC) from matched-related (MRD) or unrelated donors (UD) in first (CR1) or second remission (CR2) between 2000 and 2012 were included. Propensity score weighting was used to control pretreatment imbalances of the observed variables. 3.054 patients were analyzed. CR1 (1.498): median follow-up (FU) after FTBI (1.285) and CC (213) was 6.8 and 6.1 years. Survivals were not significantly different. CR2 (1.556): median FU after FTBI (1.345) and CC (211) was 6.2 years. Outcomes after FTBI were superior as compared with CC with regard to overall survival (OS), leukemia-free survival (LFS), relapse incidence (RI), and nonrelapse mortality (NRM). However, we must emphasize the preliminary character of the results of this retrospective "real-world-practice" study. These findings will be prospectively assessed in the ALL SCTped 2012 FORUM trial.

Published
2020

21. The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries

Author

Sharapova, SO, Skomska-Pawliszak, M, Rodina, YA, Wolska-Kusnierz, B, Dabrowska-Leonik, N, Mikoluc, B, Pashchenko, OE, Pasic, S, Freiberger, T, Milota, T, Formankova, R, Szaflarska, A, Siedlar, M, Avcin, T, Markelj, G, Ciznar, P, Kalwak, K, Kottan, S, Jackowska, T, Drabko, K, Gagro, A, Pac, M, Naumova, E, Kandilarova, S, Babol-Pokora, K, Varabyou, DS, Barendregt, Barbara, Raykina, EV, Varlamova, TV, Pavlova, AV, Grombirikova, H, Debeljak, M, Mersiyanova, IV, Bondarenko, AV, Chernyshova, LI, Kostyuchenko, LV, Guseva, MN, Rascon, J, Muleviciene, A, Preiksaitiene, E, Geier, CB, Leiss-Piller, A, Yamazaki, Y, Kawai, T, Walter, JE, Kondratenko, IV, Sediva, A, van der Burg, Mirjam, Kuzmenko, NB, Notarangelo, LD, Bernatowska, E, Aleinikova, OV, Sharapova, SO, Skomska-Pawliszak, M, Rodina, YA, Wolska-Kusnierz, B, Dabrowska-Leonik, N, Mikoluc, B, Pashchenko, OE, Pasic, S, Freiberger, T, Milota, T, Formankova, R, Szaflarska, A, Siedlar, M, Avcin, T, Markelj, G, Ciznar, P, Kalwak, K, Kottan, S, Jackowska, T, Drabko, K, Gagro, A, Pac, M, Naumova, E, Kandilarova, S, Babol-Pokora, K, Varabyou, DS, Barendregt, Barbara, Raykina, EV, Varlamova, TV, Pavlova, AV, Grombirikova, H, Debeljak, M, Mersiyanova, IV, Bondarenko, AV, Chernyshova, LI, Kostyuchenko, LV, Guseva, MN, Rascon, J, Muleviciene, A, Preiksaitiene, E, Geier, CB, Leiss-Piller, A, Yamazaki, Y, Kawai, T, Walter, JE, Kondratenko, IV, Sediva, A, van der Burg, Mirjam, Kuzmenko, NB, Notarangelo, LD, Bernatowska, E, and Aleinikova, OV

Published
2020

22. Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe: The European Reference Network TransplantChild

Author

SCT patientenzorg, Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, Jara, P., Baker, A., Baumann, U., Borobia, A. M., Branchereu, S., Candusso, M., Carcas, A. J., Chardot, C., Cobas, J., D'Antiga, L., Ferreras, C., Fitzpatrick, E., Frauca, E., Hernández-Oliveros, F., Kaliciński, P., Lindemans, C., Lopes, M. F., López-Granados, E., De Magnée, C., Mota, C., Muñoz, J. M., Ojeda, J. J., Pérez-Martínez, A., Perilongo, G., Rascon, J., Sciveres, M., Stone, R., Tarutis, V., Toporski, J., Torres, J. M., Wennberg, L., SCT patientenzorg, Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, Jara, P., Baker, A., Baumann, U., Borobia, A. M., Branchereu, S., Candusso, M., Carcas, A. J., Chardot, C., Cobas, J., D'Antiga, L., Ferreras, C., Fitzpatrick, E., Frauca, E., Hernández-Oliveros, F., Kaliciński, P., Lindemans, C., Lopes, M. F., López-Granados, E., De Magnée, C., Mota, C., Muñoz, J. M., Ojeda, J. J., Pérez-Martínez, A., Perilongo, G., Rascon, J., Sciveres, M., Stone, R., Tarutis, V., Toporski, J., Torres, J. M., and Wennberg, L.

Published
2020

23. Risk of complications of haematopoietic stem cell collection in paediatric sibling donors: an EBMT Paediatric Diseases Working Party prospective observational study: O404

Author

Styczynski, J., Balduzzi, A., Gil, L., Ehlert, K., Fagioli, F., Hamladji, R.-M., Marktel, S., Yesilipek, A., Matulova, M., Dalle, J.-H., Wachowiak, J., Miano, M., Varotto, S., Diaz, M. A., Vermylen, C., Eyrich, M., Badell, I., Dreger, P., Gozdzik, J., Hutt, D., Rascon, J., Labopin, M., Elarouci, N., Dini, G., and Peters, C.

Published
2011

31. Off-label use of rituximab for systemic lupus erythematosus in Europe

Author

Ryden-Aulin, M. Boumpas, D. Bultink, I. Rubio, J.L.C. Caminal-Montero, L. Castro, A. Ruiz, A.C. Doria, A. Dorner, T. Gonzalez-Echavarri, C. Gremese, E. Houssiau, F.A. Huizinga, T. Inanc, M. Isenberg, D. Iuliano, A. Jacobsen, S. Jimenez-Alonso, J. Kovacs, L. Mariette, X. Mosca, M. Nived, O. Oristrell, J. Ramos-Casals, M. Rascon, J. Ruiz-Irastorza, G. Sáez-Comet, L. Cervello, G.S. Sebastiani, G.D. Squatrito, D. Szucs, G. Voskuyl, A. Van Vollenhoven, R.

Subjects
immune system diseases, skin and connective tissue diseases
Abstract

Objectives: Rituximab (RTX) is a biological treatment used off-label in patients with systemic lupus erythematosus (SLE). This survey aimed to investigate the off-label use of RTX in Europe and compare the characteristics of patients receiving RTX with those receiving conventional therapy. Methods: Data on patients with SLE receiving RTX were taken from the International Registry for Biologics in SLE retrospective registry and complemented with data on patients with SLE treated with conventional therapy. For nationwide estimates of RTX use in patients with SLE, investigators were asked to provide data through case report forms (CRFs). Countries for which no data were submitted through CRFs, published literature and/or personal communication were used, and for European countries where no data were available, estimates were made on the assumption of similarities with neighbouring countries. Results: The estimated off-label use of RTX in Europe was 0.5%-1.5% of all patients with SLE. In comparison with patients with SLE on conventional therapy, patients treated with RTX had longer disease duration, higher disease activity and were more often treated with immunosuppressives. The most frequent organ manifestations for which either RTX or conventional therapy was initiated were lupus nephritis followed by musculoskeletal and haematological. The reason for treatment was, besides disease control, corticosteroid-sparing for patients treated with conventional therapy. Conclusions: RTX use for SLE in Europe is restrictive and appears to be used as a last resort in patients for whom other reasonable options have been exhausted.

Published
2016

35. Cidofovir for BK virus-associated hemorrhagic cystitis: a retrospective study

Author

Cesaro, S, Hirsch, H, Faraci, M, Owoc Lempach, J, Beltrame, A, Tendas, A, Baltadakis, I, Dalle, J, Koc, Y, Toporski, J, Styczynski, J, Yesilipek, M, Heinz, W, Caniglia, M, Rascon, J, Fauser, A, Michallet, M, Lopez Corral, L, Neuburger, S, Tridello, G, Einsele, H, and Arcese, W

Subjects
Male, viruses, medicine.medical_treatment, Hematopoietic stem cell transplantation, medicine.disease_cause, Gastroenterology, chemistry.chemical_compound, allogeneic stem cell transplantation, Cystitis, Child, Hematopoietic Stem Cell Transplantation, virus diseases, Total body irradiation, Middle Aged, BK virus, Infectious Diseases, Treatment Outcome, Child, Preschool, Female, BK virus, hemorrhagic cystitis, allogeneic stem cell transplantation, Cidofovir, Microbiology (medical), Adult, medicine.medical_specialty, Adolescent, Organophosphonates, Hemorrhage, Antiviral Agents, Young Adult, Cytosine, Pharmacotherapy, BK Virus, Humans, Tumor Virus Infections, Retrospective Studies, Polyomavirus Infections, Phosphonic Acids, Survival Analysis, Internal medicine, medicine, Preschool, Survival analysis, business.industry, Retrospective cohort study, medicine.disease, Surgery, chemistry, hemorrhagic cystitis, business, Settore MED/15 - Malattie del Sangue, Hemorrhagic cystitis
Abstract

Background. BK virus-associated hemorrhagic cystitis (BKV-HC) is a severe complication after allogeneic hematopoietic stem cell transplantation (HSCT), but antiviral treatment for this condition has not been evaluated. Methods. We conducted a retrospective survey on the safety and outcome of cidofovir treatment for patients with BKV-HC in centers affiliated with the European Group for Blood and Marrow Transplantation. Results. From 1 April 2004 to 31 December 2007, 62 patients received a diagnosis of BKV-HC after a median interval of 35 days after HSCT (range, 3-577 days). Fifty-seven patients (92%) received intravenous cidofovir, whereas 5 patients received cidofovir intravesically. Complete response (CR) was recorded in 38 (67%) of 57 patients with HC treated with intravenous cidofovir, whereas partial response (PR) was documented in 7 patients (12%). CR was documented in 3 patients and PR in 1 patient with HC treated with intravesical cidofovir. A reduction of 1-3 logs in BKV load was documented in 8 of the 10 patients achieving CR. Mild-to-moderate toxic effects were recorded in 18 of 57 patients who received intravenous cidofovir administration. In a multivariate analysis, the factors significantly associated with response to cidofovir were the stem cell source (Pp. 01) and the use of total body irradiation (P = .03). After a median follow-up of 287 days, overall survival and total treatment-related mortality rates were 63% and 40% for patients achieving CR, compared with 14% and 72% for patients with PR or no response to cidofovir, respectively (P < .001 and P = .001, respectively). Conclusions. Cidofovir may be a potentially effective therapy for BKV-HC, but evidence supporting its use requires randomized controlled trials.

Published
2009

36. Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo22q11.1q11.22 duplication

Author

Vaisvilas, M, Dirse, V, Aleksiuniene, B, Tamuliene, I, Cimbalistiene, L, Utkus, A, and Rascon, J

Abstract

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild symptoms. Both benign and malignant hematological entities are rare. A male patient was diagnosed with mild facial dysmorphia, congenital heart anomalies shortly after birth and acute bowel obstruction due to malrotation of the intestine at the age of 3 years. A whole-genome single nucleotide polymorphism (SNP) array revealed a de novo6.6 Mb duplication in the 22q11.1q11.22 chromosomal region. A year later, the patient was diagnosed with acute pre-B lymphoblastic leukemia (pre-B ALL). Five genes, CDC45, CLTCL1, DGCR2, GP1BBand SEPT5, in the 22q11.1q11.22 region are potentially responsible for cell cycle division. We hypothesized that dosage imbalance of genes implicated in the rearrangement could have disrupted the balance between cell growth and differentiation and played a role in the initiation of malignancy with a hyperdiploid leukemic clone, whereas over-expression of the TBX1gene might have been responsible for congenital heart defects and mild facial dysmorphia.

Published
2018
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37. Risk of complications during hematopoietic stem cell collection in pediatric sibling donors: a prospective European Group for Blood and Marrow Transplantation Pediatric Diseases Working Party study

Author

Styczynski, J, Balduzzi, A, Gil, L, Labopin, M, Hamladji, R, Marktel, S, Yesilipek M., A, Fagioli, F, Ehlert, K, Matulova, M, Dalle, J, Wachowiak, J, Miano, M, Messina, C, Diaz Miguel, A, Vermylen, C, Eyrich, M, Badell, I, Dreger, P, Gozdzik, J, Hutt, D, Rascon, J, Dini, G, Peters, C, Styczynski Jan, Balduzzi A, Gil Lidia, Labopin Myriam, Hamladji Rose-Marie, Marktel Sarah, Yesilipek M. Akif, Fagioli Franca, Ehlert Karoline, Matulova Martina, Dalle Jean-Hugues, Wachowiak Jacek, Miano Maurizio, Messina Chiara, Diaz Miguel Angel, Vermylen Christiane, Eyrich Matthias, Badell Isabel, Dreger Peter, Gozdzik Jolanta, Hutt Daphna, Rascon Jelena, Dini Giorgio, Peters Christina, Styczynski, J, Balduzzi, A, Gil, L, Labopin, M, Hamladji, R, Marktel, S, Yesilipek M., A, Fagioli, F, Ehlert, K, Matulova, M, Dalle, J, Wachowiak, J, Miano, M, Messina, C, Diaz Miguel, A, Vermylen, C, Eyrich, M, Badell, I, Dreger, P, Gozdzik, J, Hutt, D, Rascon, J, Dini, G, Peters, C, Styczynski Jan, Balduzzi A, Gil Lidia, Labopin Myriam, Hamladji Rose-Marie, Marktel Sarah, Yesilipek M. Akif, Fagioli Franca, Ehlert Karoline, Matulova Martina, Dalle Jean-Hugues, Wachowiak Jacek, Miano Maurizio, Messina Chiara, Diaz Miguel Angel, Vermylen Christiane, Eyrich Matthias, Badell Isabel, Dreger Peter, Gozdzik Jolanta, Hutt Daphna, Rascon Jelena, Dini Giorgio, and Peters Christina

Abstract

We investigated prospectively factors influencing the safety of hematopoietic stem cell (HSC) collection in 453 pediatric donors. The children in the study donated either BM or peripheral blood stem cells (PBSCs) according to center policy. A large variability in approach to donor issues was observed between the participating centers. Significant differences were observed between BM and PBSC donors regarding pain, blood allotransfusion, duration of hospital stay, and iron supplementation; however, differences between the groups undergoing BM vs PBSC donation preclude direct risk comparisons between the 2 procedures. The most common adverse event was pain, reported mainly by older children after BM harvest, but also observed after central venous catheter (CVC) placement for PBSC collection. With regard to severe adverse events, one patient (0.7%) developed a pneumothorax with hydrothorax after CVC placement for PBSC collection. The risk of allotransfusion after BM harvest was associated with a donor age of < 4 years and a BM harvest volume of > 20 mL/kg. Children < 4 years were at higher risk than older children for allotransfusion after BM harvest and there was a higher risk of complications from CVC placement before apheresis. We conclude that PBSC and BM collection are safe procedures in children. (Blood. 2012;119(12):2935-2942), We investigated prospectively factors influencing the safety of hematopoietic stem cell (HSC) collection in 453 pediatric donors. The children in the study donated either BM or peripheral blood stem cells (PBSCs) according to center policy. A large variability in approach to donor issues was observed between the participating centers. Significant differences were observed between BM and PBSC donors regarding pain, blood allotransfusion, duration of hospital stay, and iron supplementation; however, differences between the groups undergoing BM vs PBSC donation preclude direct risk comparisons between the 2 procedures. The most common adverse event was pain, reported mainly by older children after BM harvest, but also observed after central venous catheter (CVC) placement for PBSC collection. With regard to severe adverse events, one patient (0.7%) developed a pneumothorax with hydrothorax after CVC placement for PBSC collection. The risk of allotransfusion after BM harvest was associated with a donor age of < 4 years and a BM harvest volume of > 20 mL/kg. Children < 4 years were at higher risk than older children for allotransfusion after BM harvest and there was a higher risk of complications from CVC placement before apheresis.We conclude that PBSC and BM collection are safe procedures in children. © 2012 by The American Society of Hematology.

Published
2012

38. The state of research into children with cancer across Europe : new policies for a new decade

Author

Pritchard-Jones, K, Lewison, G, Camporesi, S, Vassal, G, Ladenstein, R, Benoit, Y, Predojevic, Js, Sterba, J, Stary, J, Eckschlager, T, Schroeder, H, Doz, F, Creutzig, U, Klingebiel, T, Kosmidis, Hv, Garami, M, Pieters, R, O'Meara, A, Dini, G, Riccardi, R, Rascon, J, Rageliene, L, Calvagna, V, Czauderna, P, Kowalczyk, Jr, Gil-da-Costa, Mj, Norton, L, Pereira, F, Janic, D, Puskacova, J, Jazbec, J, Canete, A, Hjorth, L, Ljungman, Gustaf, Kutluk, T, Morland, B, Stevens, M, Walker, D, Sullivan, R, Pritchard-Jones, K, Lewison, G, Camporesi, S, Vassal, G, Ladenstein, R, Benoit, Y, Predojevic, Js, Sterba, J, Stary, J, Eckschlager, T, Schroeder, H, Doz, F, Creutzig, U, Klingebiel, T, Kosmidis, Hv, Garami, M, Pieters, R, O'Meara, A, Dini, G, Riccardi, R, Rascon, J, Rageliene, L, Calvagna, V, Czauderna, P, Kowalczyk, Jr, Gil-da-Costa, Mj, Norton, L, Pereira, F, Janic, D, Puskacova, J, Jazbec, J, Canete, A, Hjorth, L, Ljungman, Gustaf, Kutluk, T, Morland, B, Stevens, M, Walker, D, and Sullivan, R

Abstract

Overcoming childhood cancers is critically dependent on the state of research. Understanding how, with whom and what the research community is doing with childhood cancers is essential for ensuring the evidence-based policies at national and European level to support children, their families and researchers. As part of the European Union funded EUROCANCERCOMS project to study and integrate cancer communications across Europe, we have carried out new research into the state of research in childhood cancers. We are very grateful for all the support we have received from colleagues in the European paediatric oncology community, and in particular from Edel Fitzgerald and Samira Essiaf from the SIOP Europe office. This report and the evidence-based policies that arise from it come at a important junction for Europe and its Member States. They provide a timely reminder that research into childhood cancers is critical and needs sustainable long-term support.

Published
2011
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43. Prognosis factor analysis of penile carcinoma

Author

Jara-Rascon, J., primary, Martinez-Salamanca, J., additional, Subira-Rios, D., additional, Castaño-Gonzalez, I., additional, Duran-Merino, R., additional, Moncada-Iribarren, I., additional, and Hernandez-Fernandez, C., additional

Published
2003
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45. Quick and effective method of bone marrow mesenchymal stem cell extraction

Author

Gudleviciene Zivile, Kundrotas Gabrielis, Liudkeviciene Regina, Rascon Jelena, and Jurga Marcin

Subjects
bone marrow, cell therapy, ficoll gradient, mesenchymal stem cells, red blood cell lysis, Medicine
Abstract

Background. Mesenchymal stem cells (MSCs) are currently exploited in numerous clinical trials to investigate their potential in immune regulation, hematopoesis or tissue regeneration. The most common source of MSCs for clinical use is human bone marrow. To generate sufficient numbers of cells relevant to clinical use in most cases the high volumes (20-50 ml) of bone marrow aspirates are taken. Methods. In this pilot study, 8 healthy bone marrow donors were included. Two different MSC extraction methods were evaluated: MSCs extraction from 60 ml of bone marrow using density gradient and MSCs extraction from 6 ml using red blood cell (RBC) lysis. Results. Our results showed that after RBC lysis the efficient amount of human MSCs can be isolated from 10 times less bone marrow volume (6 ml). Moreover, using small volume of bone marrow the adequate therapeutical dose of MSCs could be achieved during similar period of time (3-4 weeks). In conclusion, we have shown that MSCs isolation using RBC lysis is an effective and more advantageous method in comparison to standard MSCs isolation using density-gradient. Using RBC lysis from small volume of bone marrow the same amount of MSCs were obtained as usually using large volume and density-gradient.

Published
2015
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47. Moderated Posters 1.

Author

Minervini, A., Suks, M., Rees, R., Goorney, S., Bettocchi, C., Ralph, D.J., Pryor, J.P., Lledo-Garcia, E., Moncada-Iribarren, I., Jara-Rascon, J., Gonzalez-Chamorro, F., Hernandez-Fernandez, C., Llorente-Abarca, C., Mooreville, M., Martin-Morales, A., Jara, J., Bonilla, R., Subira, D., and Wilson, S.K.

Subjects
IMPOTENCE, PENILE prostheses
Abstract

Presents various studies related to impotence. Long term results of penile prostheses insertion for the treatment of erectile dysfunction; Analysis of sildenafil citrate as a treatment for cold glans syndrome after implantation of penile prostheses; Insertion of penile prostheses in fibrotic corpora.

Published
2001
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48. Myeloablative conditioning for allo-HSCT in pediatric ALL

Author

Adriana Balduzzi, Olga Aleinikova, Damir Nemet, Thomas Klingebiel, Ain Kaare, Sophie Dupont, Manuel Abecasis, E V Skorobogatova, Peter Bader, Jacek Wachowiak, Vassiliki Kitra-Roussou, Gérard Michel, Akif Yesilipek, Arjan C. Lankester, Antonio Campos, Arnaud Dalissier, Tayfun Güngör, Petr Sedlacek, Arcangelo Prete, Cristina Diaz-de-Heredia, Myriam Labopin, Yves Bertrand, K. Nagy, Gergely Kriván, Rose-Marie Hamladji, Jochen Buechner, Amir Ali Hamidieh, Kim Vettenranta, Alphan Kupesiz, Marc Bierings, Ardeshir Ghavamzadeh, Sabina Sufliarska, Jean-Hugues Dalle, Mikael Sundin, Jelena Rascon, Boris V. Afanasyev, Christina Peters, Stephen P. Robinson, Jacques-Emmanuel Galimard, Alicja Chybicka, Amal Al-Seraihy, Selim Corbacioglu, Reuven Or, Paul Veys, Jan Styczyński, Franco Locatelli, Franca Fagioli, Marianne Ifversen, Andre Willasch, Marc Ansari, Herbert Pichler, Alice Bertaina, Willasch, A, Peters, C, Sedláček, P, Dalle, J, Kitra-Roussou, V, Yesilipek, A, Wachowiak, J, Lankester, A, Prete, A, Hamidieh, A, Ifversen, M, Buechner, J, Kriván, G, Hamladji, R, Diaz-de-Heredia, C, Skorobogatova, E, Michel, G, Locatelli, F, Bertaina, A, Veys, P, Dupont, S, Or, R, Güngör, T, Aleinikova, O, Sufliarska, S, Sundin, M, Rascon, J, Kaare, A, Nemet, D, Fagioli, F, Klingebiel, T, Styczynski, J, Bierings, M, Nagy, K, Abecasis, M, Afanasyev, B, Ansari, M, Vettenranta, K, Alseraihy, A, Chybicka, A, Robinson, S, Bertrand, Y, Kupesiz, A, Ghavamzadeh, A, Campos, A, Pichler, H, Dalissier, A, Labopin, M, Corbacioglu, S, Balduzzi, A, Galimard, J, and Bader, P

Subjects
Oncology, medicine.medical_specialty, Transplantation Conditioning, medicine.medical_treatment, Allo hsct, Hematopoietic stem cell transplantation, acute lymphoblastic leukemia, hematopoietic stem cell transplantation, acute lymphoblastic leukemia, total body irradiation, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Transplantation, Homologous, Child, Etoposide, Myeloablative conditioning for allo-HSCT, residual neoplasm, pre B lymphocyte, Retrospective Studies, Transplantation, Chemotherapy, Precursor Cell Lymphoblastic Leukemia-Lymphoma / therapy, ddc:618, Acute lymphocytic leukaemia, business.industry, Incidence (epidemiology), Myeloablative conditioning, Hematopoietic Stem Cell Transplantation, Hematology, MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Total body irradiation, Survival Analysis, Stem-cell research, Leukemia, Myeloid, Acute, medicine.anatomical_structure, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, 030220 oncology & carcinogenesis, Bone marrow, business, Whole-Body Irradiation, 030215 immunology, medicine.drug
Abstract

Although most children with acute lymphoblastic leukemia (ALL) receive fractionated total body irradiation (FTBI) as myeloablative conditioning (MAC) for allogeneic hematopoietic stem cell transplantation (allo-HSCT), it is an important matter of debate if chemotherapy can effectively replace FTBI. To compare outcomes after FTBI versus chemotherapy-based conditioning (CC), we performed a retrospective EBMT registry study. Children aged 2–18 years after MAC for first allo-HSCT of bone marrow (BM) or peripheral blood stem cells (PBSC) from matched-related (MRD) or unrelated donors (UD) in first (CR1) or second remission (CR2) between 2000 and 2012 were included. Propensity score weighting was used to control pretreatment imbalances of the observed variables. 3.054 patients were analyzed. CR1 (1.498): median follow-up (FU) after FTBI (1.285) and CC (213) was 6.8 and 6.1 years. Survivals were not significantly different. CR2 (1.556): median FU after FTBI (1.345) and CC (211) was 6.2 years. Outcomes after FTBI were superior as compared with CC with regard to overall survival (OS), leukemia-free survival (LFS), relapse incidence (RI), and nonrelapse mortality (NRM). However, we must emphasize the preliminary character of the results of this retrospective “real-world-practice” study. These findings will be prospectively assessed in the ALL SCTped 2012 FORUM trial.

Published
2020

49. Risk of complications during hematopoietic stem cell collection in pediatric sibling donors: A prospective European Group for Blood and Marrow Transplantation Pediatric Diseases Working Party study

Author

Miguel Angel Diaz, Franca Fagioli, Giorgio Dini, Jolanta Gozdzik, Adriana Balduzzi, Jacek Wachowiak, Chiara Messina, Jean-Hugues Dalle, Jelena Rascon, Matthias Eyrich, Myriam Labopin, Karoline Ehlert, Lidia Gil, Christina Peters, Christiane Vermylen, Rose-Marie Hamladji, Sarah Marktel, Maurizio Miano, M. Akif Yesilipek, Isabel Badell, Daphna Hutt, Martina Matulova, Jan Styczyński, Peter Dreger, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, Styczynski, J, Balduzzi, A, Gil, L, Labopin, M, Hamladji, R, Marktel, S, Yesilipek M., A, Fagioli, F, Ehlert, K, Matulova, M, Dalle, J, Wachowiak, J, Miano, M, Messina, C, Diaz Miguel, A, Vermylen, C, Eyrich, M, Badell, I, Dreger, P, Gozdzik, J, Hutt, D, Rascon, J, Dini, G, and Peters, C

Subjects
Male, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Immunology, Blood Specimen Collection, Bone Marrow Transplantation, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Peripheral Blood Stem Cell Transplantation, Siblings, Hematopoietic Stem Cell Transplantation, Tissue Donors, Hematology, Biochemistry, Cell Biology, Hematopoietic stem cell transplantation, medicine, Adverse effect, Preschool, hematopoietic stem cell transplantation, sibling, complications, stem cell donor, pediatric, business.industry, Hematopoietic stem cell, medicine.disease, Newborn, medicine.anatomical_structure, Apheresis, Pneumothorax, Donation, Hydrothorax, business, Central venous catheter
Abstract

We investigated prospectively factors influencing the safety of hematopoietic stem cell (HSC) collection in 453 pediatric donors. The children in the study donated either BM or peripheral blood stem cells (PBSCs) according to center policy. A large variability in approach to donor issues was observed between the participating centers. Significant differences were observed between BM and PBSC donors regarding pain, blood allotransfusion, duration of hospital stay, and iron supplementation; however, differences between the groups undergoing BM vs PBSC donation preclude direct risk comparisons between the 2 procedures. The most common adverse event was pain, reported mainly by older children after BM harvest, but also observed after central venous catheter (CVC) placement for PBSC collection. With regard to severe adverse events, one patient (0.7%) developed a pneumothorax with hydrothorax after CVC placement for PBSC collection. The risk of allotransfusion after BM harvest was associated with a donor age of < 4 years and a BM harvest volume of > 20 mL/kg. Children < 4 years were at higher risk than older children for allotransfusion after BM harvest and there was a higher risk of complications from CVC placement before apheresis. We conclude that PBSC and BM collection are safe procedures in children. (Blood. 2012;119(12):2935-2942) We investigated prospectively factors influencing the safety of hematopoietic stem cell (HSC) collection in 453 pediatric donors. The children in the study donated either BM or peripheral blood stem cells (PBSCs) according to center policy. A large variability in approach to donor issues was observed between the participating centers. Significant differences were observed between BM and PBSC donors regarding pain, blood allotransfusion, duration of hospital stay, and iron supplementation; however, differences between the groups undergoing BM vs PBSC donation preclude direct risk comparisons between the 2 procedures. The most common adverse event was pain, reported mainly by older children after BM harvest, but also observed after central venous catheter (CVC) placement for PBSC collection. With regard to severe adverse events, one patient (0.7%) developed a pneumothorax with hydrothorax after CVC placement for PBSC collection. The risk of allotransfusion after BM harvest was associated with a donor age of < 4 years and a BM harvest volume of > 20 mL/kg. Children < 4 years were at higher risk than older children for allotransfusion after BM harvest and there was a higher risk of complications from CVC placement before apheresis.We conclude that PBSC and BM collection are safe procedures in children. © 2012 by The American Society of Hematology.

Published
2012

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