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1. A feasibility analysis towards the simulation of hysteresis with spin-lattice dynamics

Author

Santos, G. dos, Romá, F., Tranchida, J., Castedo, S., Cugliandolo, L. F., and Bringa, E. M.

Subjects
Condensed Matter - Materials Science
Abstract

We use spin-lattice dynamics simulations to study the possibility of modeling the magnetic hysteresis behavior of a ferromagnetic material. The temporal evolution of the magnetic and mechanical degrees of freedom is obtained through a set of two coupled Langevin equations. Hysteresis loops are calculated for different angles between the external field and the magnetocrystalline anisotropy axes. The influence of several relevant parameters is studied, including the field frequency, magnetic damping, magnetic anisotropy (magnitude and type), magnetic exchange, and system size. The role played by a moving lattice is also discussed. For a perfect bulk ferromagnetic system we find that, at low temperatures, the exchange and lattice dynamics barely affect the loops, while the field frequency and magnetic damping have a large effect on it. The influence of the anisotropy magnitude and symmetry are found to follow the expected behavior. We show that a careful choice of simulation parameters allows for an excellent agreement between the spin-lattice dynamics measurements and the paradigmatic Stoner-Wohlfarth model. Furthermore, we extend this analysis to intermediate and high temperatures for the perfect bulk system and for spherical nanoparticles, with and without defects, reaching values close to the Curie temperature. In this temperature range, we find that lattice dynamics has a greater role on the magnetic behavior, especially in the evolution of the defective samples. The present study opens the possibility for more accurate inclusion of lattice defects and thermal effects in hysteresis simulations

Published
2022
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3. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

Author

Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, S, Pinheiro, H, Sousa, L, Monteiro, R, Maqueda, Jj, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, Mr, Aretz, S, Bajalica-Lagercrantz, S, Balmaña, J, Blatnik, A, Benusiglio, Pr, Blanluet, M, Bours, V, Brems, H, Brunet, J, Genuardi, Maurizio, Genuardi M (ORCID:0000-0002-7410-8351), Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, S, Pinheiro, H, Sousa, L, Monteiro, R, Maqueda, Jj, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, Mr, Aretz, S, Bajalica-Lagercrantz, S, Balmaña, J, Blatnik, A, Benusiglio, Pr, Blanluet, M, Bours, V, Brems, H, Brunet, J, Genuardi, Maurizio, and Genuardi M (ORCID:0000-0002-7410-8351)

Published
2023

7. GENOTYPE-PHENOTYPE ASSOCIATIONS PROVIDE A RATIONAL TO IDENTIFY POTENTIALLY ACTIONABLE VUS

Author

Pelaez J, Monteiro R, Lobo S, Sousa L, Pinheiro H, Castedo S, Garrido L, Teixeira M, Michils G, Bours V, de Putter R, Golmard L, Blanluet M, Colas C, Benusiglio P, Desseignes C, Florence C, Aretz S, Spier I, Huneburg R, Gieldon L, Schrock E, Holinski-Feder E, Steinke V, Calistri D, Tedaldi G, Ranzani G, Genuardi M, Silveira C, Silva I, Krajc M, Blatnik A, Novacovik S, Patino-Garcia A, Soto J, Lazaro C, Capella G, Brunet-Vidal J, Balmana J, Dominguez-Garrido E, Ligtenberg M, Fewings E, Fitzgerald R, Woodward E, Evans G, Hanson H, Lagerstedt-Robinson K, Bajalica-Lagercrantz S, Egas C, Tejada M, Dahan K, Feret D, Hoogerbrugge N, Tischkowitz M, and Oliveira C

Published
2021

11. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

Author

Frebourg, T, Oliveira, C, Hochain, P, Karam, R, Manouvrier, S, Graziadio, C, Vekemans, M, Hartmann, A, Baert-Desurmont, S, Alexandre, C, Dumoulin, S Lejeune, Marroni, C, Martin, C, Castedo, S, Lovett, M, Winston, J, Machado, J C, Attié, T, Jabs, E W, Cai, J, Pellerin, Ph, Triboulet, J P, Scotte, M, Le Pessot, F, Hedouin, A, Carneiro, F, Blayau, M, and Seruca, R

Published
2006

15. Classification of the dup 15q13.3 CNV: A National data collection

Author

Sousa, A., Serafim, S., Santos, R., Custódio, S., Ávila, M., Dupont, J., Dias P, P., Moldovan, O., Melo, J., Ferreira, S., Pires, L., Leão, M., Sá, S., Prior, C., Alves, C., Barreta, A., Tarelho, A., Marques, B., Pedro, S., Lopes, F., Maciel, P., Correia, H., Dória, S., Rendeiro, P., Castedo, S., Carreira, I., and Sousa, A.B.

Subjects
National Data Collection, CNV, 15q13.3, Duplicação, Doenças Genéticas
Abstract

Introduction: The proximal region 15q11q14 is one of the most unstable regions in the human genome, with six recognizable break points (BP1-BP6). In 15q13.3 there is a recurrent small CNV (BP4-BP5) consisting of a 350-680 Kb duplication, encompassing the CHRNA7 gene, which encodes the alpha 7 subunit of the neuronal nicotinic acetylcholine receptor. Although microdeletions of CHRNA7 are known to cause intellectual disability and neuropsychiatric phenotypes with high penetrance, the patogenicity of CHRNA7 duplications remains unclear. Microduplication 15q13.3 seems to be associated with a phenotypic spectrum of cognitive impairment and neuropsychiatric/neurobehavioral disorders. However, the penetrance of this CNV is considered incomplete since it is present in clinically unaffected individuals in the general population and it is frequently inherited from apparently clinically normal parents. Nonetheless, some pedigree studies have found a history of neuropsychiatric problems among carrier family members. This study aimed at re-evaluating the dup 15q13.3 CNV in national laboratories. Materials and Methods: Our study collected data on 15q13.3 microduplications in eight Portuguese genetics laboratories, among subjects referred for microarray. Results: Here we present a total of seventeen cases with dup 15q13.3. The subjects had somewhat variable phenotypes, with a bias towards developmental delay and autism spectrum disorders. Inheritance was established for eight of the subjects, and the majority originated from the father. We had no access to clinical data on carrier parents. No de novo CNV was found. All laboratories involved classified this variant as of uncertain significance. Discussion/Conclusion: To better determine whether this CNV is benign or pathogenic, careful characterization of patient and control cohorts must be performed, including detailed patient phenotyping, inheritance, clinical evaluation of carrier parents, prevalence in controls, as well as genetic functional studies. We strongly support the creation of a national database for uncertain CNVs in order to clarify the relevance of these recurrent findings, allowing a definitive classification in either pathogenic or benign.

Published
2014

16. Microarray in clinical practice – utility vs complexity. Mixed phenotype of duplication 15q11.2q13.1 and deletion 16p11.2

Author

Antunes, Diana, Rodrigues, M.I., Carvalho, I., Freixo, J.P., Marques, B., Pedro, S., Kay, T., Correia, H., Castedo, S., and Nunes, L.

Subjects
15q11.2q13.1, Deleção, Doenças genéticas, Duplicação, Microarray, 16p11.2
Abstract

Introduction: There’s a consensus to perform chromosomal microarray technique as first-tier clinical diagnostic test for individuals with developmental disabilities. However, given the complexity of clinical presentations, often several diagnostic methods are held before conducting microarray. Method: We report the case of a 5 year-old boy referred to Medical Genetics due to short stature, developmental disabilities and facial dysmorphic features. He was born from eutocic delivery after an uneventful pregnancy. He had psychomotor milestones delayed like sitting at 9 months and walking at 24 months, holding an immature broad-based gait. There was history of learning difficulties from both parents, and the mother has also short stature. On examination it was noted some facial dysmorphic features like high forehead, conical canines and rarefaction of the distal portion of the eyebrows. Due to the history of an episode of transient ataxia, and suspicion of an inherited metabolic disorder, he had already performed various analytical and imaging screenings, all normal. Results: Chromosomal microarray analysis revealed two pathogenic Copy Number Variants (CNV’s): 16p11.2 deletion and 15q11.2q13.1 duplication. The 15q11q13 microduplication syndrome (OMIM # 608636) is a very rare clinical entity with about 30 reported cases with maternal origin, and it is characterized by neurobehavioral disorder, hypotonia, cognitive impairment, epilepsy and short stature. The 16p11.2 microdeletion syndrome (OMIM # 613444) is also a rare clinical entity, with high penetrance, associated with obesity and developmental disabilities. Discussion: Despite the unquestionable utility of microarray, the correlation of the CNV's with the phenotype is often difficult by the rarity of these new microdeletion/duplication clinical entities. In this case the interpretation has increased difficulty because of the simultaneous existence of two distinct clinical entities. Segregation studies, which in the first step include parental analysis, are essential for genetic counseling and determining the risk of recurrence but also for a more accurate correlation genotype-phenotype.

Published
2014

17. Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis

Author

Sousa, R, Goncalves, C, Guerra, IC, Costa, E, Fernandes, A, Sucesso, MDB, Azevedo, J, Rodriguez, A, Rius, R, Seabra, C, Ferreira, F, Ribeiro, L, Ferrao, A, Castedo, S, Cleto, E, Coutinho, J, Carvalho, F, Barbot, J, Porto, B, Sousa, R, Goncalves, C, Guerra, IC, Costa, E, Fernandes, A, Sucesso, MDB, Azevedo, J, Rodriguez, A, Rius, R, Seabra, C, Ferreira, F, Ribeiro, L, Ferrao, A, Castedo, S, Cleto, E, Coutinho, J, Carvalho, F, Barbot, J, and Porto, B

Abstract

BACKGROUND: Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS). Fanconi anemia (FA) is a genetic disorder associated to redox imbalance and dysfunctional response to OS. Clinically, it is characterized by progressive bone marrow failure, which remains the primary cause of morbidity and mortality. Macrocytosis and increased fetal hemoglobin, two indicators of bone marrow stress erythropoiesis, are generally the first hematological manifestations to appear in FA. However, the significance of RDW and its possible relation to stress erythropoiesis have never been explored in FA. In the present study we analyzed routine complete blood counts from 34 FA patients and evaluated RDW, correlating with the hematological parameters most consistently associated with the FA phenotype. RESULTS: We showed, for the first time, that RDW is significantly increased in FA. We also showed that increased RDW is correlated with thrombocytopenia, neutropenia and, most importantly, highly correlated with anemia. Analyzing sequential hemograms from 3 FA patients with different clinical outcomes, during 10 years follow-up, we confirmed a consistent association between increased RDW and decreased hemoglobin, which supports the postulated importance of RDW in the evaluation of hematological disease progression. CONCLUSIONS: This study shows, for the first time, that RDW is significantly increased in FA, and this increment is correlated with neutropenia, thrombocytopenia, and highly correlated with anemia. According to the present results, it is suggested that increased RDW can be a novel marker of stress erythropoiesis in FA.

Published
2016

18. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

Author

Tan-Sindhunata, G, Castedo, S, Leegte, B, Mulder, [No Value], van der Veen, AYV, van der Hout, AHV, and van Essen, AJ

Subjects
HETEROCHROMATIN, small supernumerary ring chromosome 7, IDENTIFICATION, FISH, ORIGIN, familial, MOSAICISM, IN-SITU HYBRIDIZATION, MARKER CHROMOSOMES, fluorescence in situ hybridization, SEQUENCE
Abstract

A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosome was derived from the pericentromeric region of chromosome 7. Further characterization with a YAC-probe showed the involvement of the proximal q-arm of chromosome 7, Both sibs had speech difficulties and were mildly mentally retarded whereas the mother's intelligence was at the lower end of the normal range, They all had an unusual face, characterized by a flat profile, short forehead, downslant of the palpebral. fissures, high and broad nasal bridge, simply formed ears, and prognathia, This is the second report of a small supernumerary ring chromosome derived from the pericentromeric region of chromosome 7, and the described clinical phenotype differs from that delineated in the previous report. Am. J. Med. Genet. 92:147-152, 2000. (C) 2000 Wiley-Liss, Inc.

Published
2000

19. Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.

Author

Velho, S., Oliveira, C., Paredes, J., Sousa, S., Leite, M., Matos, P., Milanezi, F., Ribeiro, A.S., Mendes, N., Licastro, D., Karhu, A., Oliveira, M.J., Ligtenberg, M.J.L., Hamelin, R., Carneiro, F., Lindblom, A., Peltomaki, P., Castedo, S., Schwartz Jr, S., Jordan, P., Aaltonen, L.A., Hofstra, R.M., Suriano, G., Stupka, E., Fialho, A.M., Seruca, R., Velho, S., Oliveira, C., Paredes, J., Sousa, S., Leite, M., Matos, P., Milanezi, F., Ribeiro, A.S., Mendes, N., Licastro, D., Karhu, A., Oliveira, M.J., Ligtenberg, M.J.L., Hamelin, R., Carneiro, F., Lindblom, A., Peltomaki, P., Castedo, S., Schwartz Jr, S., Jordan, P., Aaltonen, L.A., Hofstra, R.M., Suriano, G., Stupka, E., Fialho, A.M., and Seruca, R.

Abstract

Contains fulltext : 89001.pdf (publisher's version ) (Closed access), Mixed lineage kinase 3 (MLK3) is a serine/threonine kinase, regulating MAPkinase signalling, in which cancer-associated mutations have never been reported. In this study, 174 primary gastrointestinal cancers (48 hereditary and 126 sporadic forms) and 7 colorectal cancer cell lines were screened for MLK3 mutations. MLK3 mutations were significantly associated with MSI phenotype in primary tumours (P = 0.0005), occurring in 21% of the MSI carcinomas. Most MLK3 somatic mutations identified were of the missense type (62.5%) and more than 80% of them affected evolutionarily conserved residues. A predictive 3D model points to the functional relevance of MLK3 missense mutations, which cluster in the kinase domain. Further, the model shows that most of the altered residues in the kinase domain probably affect MLK3 scaffold properties, instead of its kinase activity. MLK3 missense mutations showed transforming capacity in vitro and cells expressing the mutant gene were able to develop locally invasive tumours, when subcutaneously injected in nude mice. Interestingly, in primary tumours, MLK3 mutations occurred in KRAS and/or BRAF wild-type carcinomas, although not being mutually exclusive genetic events. In conclusion, we have demonstrated for the first time the presence of MLK3 mutations in cancer and its association to mismatch repair deficiency. Further, we demonstrated that MLK3 missense mutations found in MSI gastrointestinal carcinomas are functionally relevant.

Published
2010

23. BILATERAL SPLIT HAND FOOT MALFORMATION AND INV(7)(P22Q21.3)

Author

COBBEN, JM, VERHEIJ, JBGM, EISMA, WH, ROBINSON, PH, ZWIERSTRA, RP, LEEGTE, B, CASTEDO, S, and Faculteit Medische Wetenschappen/UMCG

Subjects
ECTODERMAL DYSPLASIA, CLEFT-LIP PALATE, CHILD, CHROMOSOME-7, INTERSTITIAL DELETION, TRANSLOCATION
Abstract

A boy with typical tetramelic split hands and feet is described. In addition, there was a large arteriovenous malformation of the right arm. Chromosome studies showed a pericentric inversion of chromosome 7: 46,XY,inv(7) (p22q21.3). Inspection of the extremities and chromosome studies in the parents were normal. This case confirms the suggested localisation of a locus, important for early limb differentiation, on the long arm of chromosome 7, most probably in the chromosomal region 7q21.2-7q21.3. Previously reported cases are reviewed briefly.

Published
1995

25. Poster Session 3

Author

Fabbri, G. M. T., primary, Baldasseroni, S., additional, Panuccio, D., additional, Zoni Berisso, M., additional, Scherillo, M., additional, Lucci, D., additional, Di Pasquale, G., additional, Mathieu, G., additional, Burazor, I., additional, Burazor, M., additional, Perisic, Z., additional, Atanaskovic, V., additional, Erakovic, V., additional, Stojkovic, A., additional, Vogtmann, T., additional, Schoebel, C., additional, Sogorski, S., additional, Sebert, M., additional, Schaarschmidt, J., additional, Fietze, I., additional, Baumann, G., additional, Penzel, T., additional, Mornos, C., additional, Ionac, A., additional, Cozma, D., additional, Dragulescu, D., additional, Mornos, A., additional, Petrescu, L., additional, Pescariu, L., additional, Brembilla-Perrot, B., additional, Khachab, H., additional, Lamberti, F., additional, Bellini, C., additional, Remoli, R., additional, Cogliandro, T., additional, Nardo, R., additional, Bellusci, F., additional, Mazzuca, V., additional, Gaspardone, A., additional, Aguinaga Arrascue, L. E., additional, Bravo, A., additional, Garcia Freire, P., additional, Gallardo, P., additional, Hasbani, E., additional, Quintana, R., additional, Dantur, J., additional, Inoue, K., additional, Ueoka, A., additional, Tsubakimoto, Y., additional, Sakatani, T., additional, Matsuo, A., additional, Fujita, H., additional, Kitamura, M., additional, Wegrzynowska, M., additional, Konduracka, E., additional, Pietrucha, A. Z., additional, Mroczek-Czernecka, D., additional, Paradowski, A., additional, Bzukala, I., additional, Nessler, J., additional, Igawa, O., additional, Adachi, M., additional, Atarashi, H., additional, Kusama, Y., additional, Kodani, E., additional, Okazaki, R., additional, Nakagomi, A., additional, Endoh, Y., additional, Baez-Escudero, J. L., additional, Dave, A. S., additional, Sasaridis, C. M., additional, Valderrabano, M., additional, Tilz, R., additional, Bai, R., additional, Di Biase, L., additional, Gallinghouse, G. J., additional, Gibson, D., additional, Pisapia, A., additional, Wazni, O., additional, Natale, A., additional, Arujuna, A., additional, Karim, R., additional, Rinaldi, A., additional, Cooklin, M., additional, Rhode, K., additional, Razavi, R., additional, O'neill, M., additional, Gill, J., additional, Kusa, S., additional, Komatsu, Y., additional, Kakita, K., additional, Takayama, K., additional, Taniguchi, H., additional, Otomo, K., additional, Iesaka, Y., additional, Ammar, S., additional, Reents, T., additional, Fichtner, S., additional, Wu, J., additional, Zhu, P., additional, Kolb, C., additional, Hessling, G., additional, Deisenhofer, I., additional, Gilbert, G., additional, Mohanty, P., additional, Cunningham, J., additional, Metz, T., additional, Horton, R., additional, Tao, S., additional, Yamauchi, Y., additional, Okada, H., additional, Maeda, S., additional, Obayashi, T., additional, Isobe, M., additional, Chan, J., additional, Johar, S., additional, Wong, T., additional, Markides, V., additional, Hussain, W., additional, Konstantinidou, M., additional, Wissner, E., additional, Fuernkranz, A., additional, Yoshiga, Y., additional, Metzner, A., additional, Kuck, K.- H., additional, Ouyang, F., additional, Kettering, K., additional, Gramley, F., additional, Mollnau, H., additional, Weiss, C., additional, Bardeleben, S., additional, Biasco, L., additional, Scaglione, M., additional, Caponi, D., additional, Di Donna, P., additional, Sergi, D., additional, Cerrato, N., additional, Blandino, A., additional, Gaita, F., additional, Fiala, M., additional, Wichterle, D., additional, Sknouril, L., additional, Bulkova, V., additional, Chovancik, J., additional, Nevralova, R., additional, Pindor, J., additional, Januska, J., additional, Choi, J. I., additional, Ban, J. E., additional, Yasutsugu, N., additional, Park, J. S., additional, Jung, J. S., additional, Lim, H. E., additional, Park, S. W., additional, Kim, Y. H., additional, Kuhne, M., additional, Reichlin, T., additional, Ammann, P., additional, Schaer, B., additional, Osswald, S., additional, Sticherling, C., additional, Ohe, M., additional, Goya, M., additional, Hiroshima, K., additional, Hayashi, K., additional, Makihara, Y., additional, Nagashima, M., additional, Fukunaga, M., additional, An, Y., additional, Dorwarth, U., additional, Schmidt, M., additional, Wankerl, M., additional, Krieg, J., additional, Straube, F., additional, Hoffmann, E., additional, Kathan, S., additional, Defaye, P., additional, Mbaye, A., additional, Cassagneau, R., additional, Gagniere, V., additional, Jacon, P., additional, Pokushalov, E., additional, Romanov, A., additional, Artemenko, S., additional, Shabanov, V., additional, Elesin, D., additional, Stenin, I., additional, Turov, A., additional, Losik, D., additional, Kondo, K., additional, Miake, J., additional, Yano, A., additional, Ogura, K., additional, Kato, M., additional, Shigemasa, C., additional, Sekiguchi, Y., additional, Tada, H., additional, Yoshida, K., additional, Naruse, Y., additional, Yamasaki, H., additional, Igarashi, M., additional, Machino, T., additional, Aonuma, K., additional, Chen, S., additional, Liu, S., additional, Chen, G., additional, Meng, W., additional, Zhang, F., additional, Yan, Y., additional, Sciarra, L., additional, Dottori, S., additional, Lanzillo, C., additional, De Ruvo, E., additional, De Luca, L., additional, Minati, M., additional, Lioy, E., additional, Calo', L., additional, Lin, J., additional, Nie, Z., additional, Zhu, M., additional, Wang, X., additional, Zhao, J., additional, Hu, W., additional, Tao, H., additional, Ge, J., additional, Johansson, B., additional, Houltz, B., additional, Edvardsson, N., additional, Schersten, H., additional, Karlsson, T., additional, Wandt, B., additional, Berglin, E., additional, Hoyt, R. H., additional, Jenson, B. P., additional, Trines, S. A. I. P., additional, Braun, J., additional, Tjon Joek Tjien, A., additional, Zeppenfeld, K., additional, Tavilla, G., additional, Klautz, R. J. M., additional, Schalij, M. J., additional, Krausova, R., additional, Cihak, R., additional, Peichl, P., additional, Kautzner, J., additional, Pirk, J., additional, Skalsky, I., additional, Maly, J., additional, Imai, K., additional, Sueda, T., additional, Orihashi, K., additional, Picarra, B. C., additional, Santos, A. R., additional, Dionisio, P., additional, Semedo, P., additional, Matos, R., additional, Leitao, M., additional, Banha, M., additional, Trinca, M., additional, Elder, D. H. J., additional, George, J., additional, Jain, R., additional, Lang, C. C., additional, Choy, A. M., additional, Konert, M., additional, Loescher, S., additional, Hartmann, A., additional, Aversa, E., additional, Chirife, R., additional, Sztyglic, E., additional, Mazzetti, H., additional, Mascheroni, O., additional, Tentori, M. C., additional, Pop, R. M., additional, Margulescu, A. D., additional, Dulgheru, R., additional, Enescu, O., additional, Siliste, C., additional, Vinereanu, D., additional, Menezes Junior, A., additional, Castro Carneiro, A. R., additional, De Oliveira, B. L., additional, Shah, A. N., additional, Kantharia, B., additional, De Lucia, R., additional, Soldati, E., additional, Segreti, L., additional, Di Cori, A., additional, Zucchelli, G., additional, Viani, S., additional, Paperini, L., additional, Bongiorni, M. G., additional, Kutarski, A., additional, Czajkowski, M., additional, Pietura, R., additional, Malecka, B., additional, Heintze, J., additional, Eckardt, L., additional, Bauer, A., additional, Meine, M., additional, Van Erven, L., additional, Bloch Thomsen, P. E., additional, Lopez Chicharro, M. P., additional, Merhi, O., additional, Soga, Y., additional, Andou, K., additional, Nobuyoshi, M., additional, Gonzalez-Mansilla, A., additional, Martin-Asenjo, R., additional, Unzue, L., additional, Torres, J., additional, Garralda, E., additional, Coma, R. R., additional, Rodriguez Garcia, J. E., additional, Yaegashi, T., additional, Furusho, H., additional, Kato, T., additional, Chikata, A., additional, Takashima, S., additional, Usui, S., additional, Takamura, M., additional, Kaneko, S., additional, Chudzik, M., additional, Mitkowski, P., additional, Przybylski, A., additional, Lewek, J., additional, Smukowski, T., additional, Maciag, A., additional, Castrejon Castrejon, S., additional, Perez-Silva, A., additional, Estrada, A., additional, Doiny, D., additional, Ortega, M., additional, Lopez-Sendon, J. L., additional, Merino, J. L., additional, O'mahony, C., additional, Coats, C., additional, Cardona, M., additional, Garcia, A., additional, Calcagnino, M., additional, Lachmann, R., additional, Hughes, D., additional, Elliott, P. M., additional, Conti, S., additional, Pruiti, G. P., additional, Puzzangara, E., additional, Romano, S. A., additional, Di Grazia, A., additional, Ussia, G. P., additional, Tamburino, C., additional, Calvi, V., additional, Radinovic, A., additional, Sala, S., additional, Latib, A., additional, Mussardo, M., additional, Sora, S., additional, Paglino, G., additional, Gullace, M., additional, Colombo, A., additional, Ohlow, M.- A. G., additional, Lauer, B., additional, Wagner, A., additional, Schreiber, M., additional, Buchter, B., additional, Farah, A., additional, Fuhrmann, J. T., additional, Geller, J. C., additional, Nascimento Cardoso, R. M., additional, Batista Sa, L. A., additional, Campos Filho, L. F. C., additional, Rodrigues, S. V., additional, Dutra, M. V. F., additional, Borges, T. R. S. A., additional, Portilho, D. R., additional, Deering, T., additional, Bernardes, A., additional, Veiga, A., additional, Gartenlaub, O., additional, Goncalves, A., additional, Jimenez, A., additional, Rousseauplasse, A., additional, Deharo, J. C., additional, Striekwold, H., additional, Gosselin, G., additional, Sitbon, H., additional, Martins, V., additional, Molon, G., additional, Ayala-Paredes, F., additional, Sancho-Tello, M. J., additional, Fazal, I. A., additional, Brady, S., additional, Cronin, J., additional, Mcnally, S., additional, Tynan, M., additional, Plummer, C. J., additional, Mccomb, J. M., additional, Val-Mejias, J. E., additional, Oliveira, R. M., additional, Costa, R., additional, Martinelli Filho, M., additional, Silva, K. R., additional, Menezes, L. M., additional, Tamaki, W. T., additional, Mathias, W., additional, Stolf, N. A. G., additional, Misawa, T., additional, Ohta, I., additional, Shishido, T., additional, Miyasita, T., additional, Miyamoto, T., additional, Nitobe, J., additional, Watanabe, T., additional, Kubota, I., additional, Thibault, B., additional, Ducharme, A., additional, Simpson, C., additional, Stuglin, C., additional, Gagne, C. E., additional, Williams, R., additional, Mcnicoll, S., additional, Silvetti, M. S., additional, Drago, F., additional, Penela, D., additional, Bijnens, B., additional, Doltra, A., additional, Silva, E., additional, Berruezo, A., additional, Mont, L., additional, Sitges, M., additional, Mcintosh, R., additional, Baumann, O., additional, Raju, P., additional, Gurunathan, S., additional, Furniss, S., additional, Patel, N., additional, Sulke, N., additional, Lloyd, G., additional, Mor, M., additional, Dror, S., additional, Tsadok, Y., additional, Bachner-Hinenzon, N., additional, Katz, A., additional, Liel-Cohen, N., additional, Etzion, Y., additional, Mlynarski, R., additional, Mlynarska, A., additional, Wilczek, J., additional, Sosnowski, M., additional, Sinha, A. M., additional, Sinha, D., additional, Noelker, G., additional, Brachmann, J., additional, Weidemann, F., additional, Ertl, G., additional, Jones, M., additional, Searle, N., additional, Cocker, M., additional, Ilsley, E., additional, Foley, P., additional, Khiani, R., additional, Nelson, K. E., additional, Turley, A. J., additional, Owens, W. A., additional, James, S. A., additional, Linker, N. J., additional, Velagic, V., additional, Cikes, M., additional, Pezo Nikolic, B., additional, Puljevic, D., additional, Separovic-Hanzevacki, J., additional, Lovric-Bencic, M., additional, Biocina, B., additional, Milicic, D., additional, Kawata, H., additional, Chen, L., additional, Phan, H., additional, Anand, K., additional, Feld, G., additional, Birgesdotter-Green, U., additional, Fernandez Lozano, I., additional, Mitroi, C., additional, Toquero Ramos, J., additional, Castro Urda, V., additional, Monivas Palomero, V., additional, Corona Figueroa, A., additional, Hernandez Reina, L., additional, Alonso Pulpon, L., additional, Gate-Martinet, A., additional, Da Costa, A., additional, Rouffiange, P., additional, Cerisier, A., additional, Bisch, L., additional, Romeyer-Bouchard, C., additional, Isaaz, K., additional, Morales, M.- A., additional, Bianchini, E., additional, Startari, U., additional, Faita, F., additional, Bombardini, T., additional, Gemignani, V., additional, Piacenti, M., additional, Adhya, S., additional, Kamdar, R. H., additional, Millar, L. M., additional, Burchardt, C., additional, Murgatroyd, F. D., additional, Klug, D., additional, Kouakam, C., additional, Guedon-Moreau, L., additional, Marquie, C., additional, Benard, S., additional, Kacet, S., additional, Cortez-Dias, N., additional, Carrilho-Ferreira, P., additional, Silva, D., additional, Goncalves, S., additional, Valente, M., additional, Marques, P., additional, Carpinteiro, L., additional, Sousa, J., additional, Keida, T., additional, Nishikido, T., additional, Fujita, M., additional, Chinen, T., additional, Kikuchi, T., additional, Nakamura, K., additional, Ohira, H., additional, Takami, M., additional, Anjo, D., additional, Meireles, A., additional, Gomes, C., additional, Roque, C., additional, Pinheiro Vieira, A., additional, Lagarto, V., additional, Reis, H., additional, Torres, S., additional, Ortega, D. F., additional, Barja, L. D., additional, Montes, J. P., additional, Logarzo, E., additional, Bonomini, P., additional, Mangani, N., additional, Paladino, C., additional, Chwyczko, T., additional, Smolis-Bak, E., additional, Sterlinski, M., additional, Pytkowski, M., additional, Firek, B., additional, Jankowska, A., additional, Szwed, H., additional, Nakajima, I., additional, Noda, T., additional, Okamura, H., additional, Satomi, K., additional, Aiba, T., additional, Shimizu, W., additional, Aihara, N., additional, Kamakura, S., additional, Brzozowski, W., additional, Tomaszewski, A., additional, Wysokinski, A., additional, Bertoldi, E. G., additional, Rohde, L. E., additional, Zimerman, L. I., additional, Pimentel, M., additional, Polanczyk, C. A., additional, Boriani, G., additional, Lunati, M., additional, Gasparini, M., additional, Landolina, M., additional, Lonardi, G., additional, Pecora, D., additional, Santini, M., additional, Valsecchi, S., additional, Rubinstein, B. J., additional, Wang, D. Y., additional, Cabreriza, S. E., additional, Richmond, M. E., additional, Rusanov, A., additional, Quinn, T. A., additional, Cheng, B., additional, Spotnitz, H. M., additional, Kristiansen, H. M., additional, Vollan, G., additional, Hovstad, T., additional, Keilegavlen, H., additional, Faerestrand, S., additional, Brigesdotter-Green, U., additional, Nawar, A. M. R., additional, Ragab, D. A. L. I. A., additional, Eluhsseiny, R. A. N. I. A., additional, Abdelaziz, A. H. M. E. D., additional, Nof, E., additional, Abu Shama, R., additional, Buber, J., additional, Kuperstein, R., additional, Feinberg, M. S., additional, Barlev, D., additional, Eldar, M., additional, Glikson, M., additional, Badran, H., additional, Samir, R., additional, Tawfik, M., additional, Amin, M., additional, Eldamnhoury, H., additional, Khaled, S., additional, Tolosana, J. M., additional, Martin, A. M., additional, Hernandez-Madrid, A., additional, Macias, A., additional, Fernandez-Lozano, I., additional, Osca, J., additional, Quesada, A., additional, Padeletti, L., additional, Botto, G. L., additional, De Santo, T., additional, Szwed, A., additional, Martinez, J. G., additional, Degand, B., additional, Villani, G. Q., additional, Leclercq, C., additional, Ritter, P., additional, Watanabe, I., additional, Nagashima, K., additional, Okumura, Y., additional, Kofune, M., additional, Ohkubo, K., additional, Nakai, T., additional, Hirayama, A., additional, Mikhaylov, E., additional, Vander, M., additional, Lebedev, D., additional, Zarse, M., additional, Suleimann, H., additional, Bogossian, H., additional, Stegelmeyer, J., additional, Ninios, I., additional, Karosienne, Z., additional, Kloppe, A., additional, Lemke, B., additional, John, S., additional, Gaspar, T., additional, Rolf, S., additional, Sommer, P., additional, Hindricks, G., additional, Piorkowski, C., additional, Fernandez-Armenta, J., additional, Mont, L. L., additional, Zeljko, H., additional, Andreu, D., additional, Herzcku, C., additional, Boussy, T., additional, Brugada, J., additional, Obayahi, T., additional, Hegrenes, J., additional, Lim, E., additional, Mediratta, V., additional, Bautista, R., additional, Teplitsky, L., additional, Van Huls Van Taxis, C. F. B., additional, Wijnmaalen, A. P., additional, Gawrysiak, M., additional, Schuijf, J. D., additional, Bax, J. J., additional, Huo, Y., additional, Richter, S., additional, Arya, A., additional, Bollmann, A., additional, Akca, F., additional, Bauernfeind, T., additional, Schwagten, B., additional, De Groot, N. M. S., additional, Jordaens, L., additional, Szili-Torok, T., additional, Miller, S., additional, Kastner, G., additional, Maury, P., additional, Della Bella, P., additional, Delacretaz, E., additional, Sacher, F., additional, Maccabelli, G., additional, Brenner, R., additional, Rollin, A., additional, Jais, P., additional, Vergara, P., additional, Trevisi, N., additional, Ricco, A., additional, Petracca, F., additional, Bisceglia, C., additional, Baratto, F., additional, Salguero Bodes, R., additional, Fontenla Cerezuela, A., additional, De Riva Silva, M., additional, Lopez Gil, M., additional, Mejia Martinez, E., additional, Jurado Roman, A., additional, Montero Alvarez, M., additional, Arribas Ynsaurriaga, F., additional, Baszko, A., additional, Krzyzanowski, K., additional, Bobkowski, W., additional, Surmacz, R., additional, Zinka, E., additional, Siwinska, A., additional, Szyszka, A., additional, Perez Silva, A., additional, Estrada Mucci, A., additional, Ortega Molina, M., additional, Lopez Sendon, J. L., additional, Merino Llorens, J. L., additional, Kaitani, K., additional, Hanazawa, K., additional, Izumi, C., additional, Nakagawa, Y., additional, Yamanaka, I., additional, Hirahara, T., additional, Sugawara, Y., additional, Suga, C., additional, Ako, J., additional, Momomura, S., additional, Galizio, N., additional, Gonzalez, J., additional, Robles, F., additional, Palazzo, A., additional, Favaloro, L., additional, Diez, M., additional, Guevara, E., additional, Fernandez, A., additional, Greenberg, S., additional, Epstein, A., additional, Goldman, D. S., additional, Sangli, C., additional, Keeney, J. A., additional, Lee, K., additional, Piers, S. R. D., additional, Van Rees, J. B., additional, Thijssen, J., additional, Borleffs, C. J. W., additional, Van Der Velde, E. T., additional, Leclercq, C. H., additional, Hero, M., additional, Mizobuchi, M., additional, Enjoji, Y., additional, Yazaki, Y., additional, Shibata, K., additional, Funatsu, A., additional, Kobayashi, T., additional, Nakamura, S., additional, Amit, G., additional, Pertzov, B., additional, Zahger, D., additional, Medesani, L., additional, Rana, R., additional, Albano, F., additional, Fraguas, H., additional, Pedersen, S. S., additional, Hoogwegt, M. T., additional, Theuns, D. A. M. J., additional, Van Den Broek, K. C., additional, Tekle, F. B., additional, Habibovic, M., additional, Alings, M., additional, Van Der Voort, P., additional, Denollet, J., additional, Vrazic, H., additional, Jilek, C., additional, Lesevic, H., additional, Tzeis, S., additional, Semmler, V., additional, Gold, M. R., additional, Burke, M. C., additional, Bardy, G. H., additional, Varma, N., additional, Pavri, B., additional, Stambler, B., additional, Michalski, J., additional, Investigators, T. R. U. S. T., additional, Safak, E., additional, Schmitz, D., additional, Konorza, T., additional, Wende, C., additional, Schirdewan, A., additional, Neuzner, J., additional, Simmers, T., additional, Erglis, A., additional, Gradaus, R., additional, Goetzke, J., additional, Coutrot, L., additional, Goehl, K., additional, Bazan Gelizo, V., additional, Grau, N., additional, Valles, E., additional, Felez, M., additional, Sanjuas, C., additional, Bruguera, J., additional, Marti-Almor, J., additional, Chu, S. Y., additional, Li, P. W., additional, Ding, W. H., additional, Schukro, C., additional, Leitner, L., additional, Siebermair, J., additional, Stix, G., additional, Pezawas, T., additional, Kastner, J., additional, Wolzt, M., additional, Schmidinger, H., additional, Behar, N. A. T. H. A. L. I. E., additional, Kervio, G., additional, Petit, B., additional, Maison-Balnche, P., additional, Bodi, S., additional, Mabo, P., additional, Foley, P. W. X., additional, Mutch, E., additional, Brashaw-Smith, J., additional, Ball, L., additional, Leyva, F., additional, Kim, D. H., additional, Lee, M. J., additional, Lee, W. S., additional, Park, S. D., additional, Shin, S. H., additional, Woo, S. I., additional, Kwan, J., additional, Park, K. S., additional, Munetsugu, Y., additional, Tanno, K., additional, Kikuchi, M., additional, Ito, H., additional, Miyoshi, F., additional, Kawamura, M., additional, Kobayashi, Y., additional, Man, S., additional, Algra, A. M., additional, Schreurs, C. A., additional, Van Der Wall, E. E., additional, Cannegieter, S. C., additional, Swenne, C. A., additional, Iitsuka, K., additional, Kondo, T., additional, Goebbert, K., additional, Karossiene, Z., additional, Goldman, D., additional, Kallen, B., additional, Kerpi, E., additional, Sardo, J., additional, Arsenos, P., additional, Gatzoulis, K., additional, Manis, G., additional, Dilaveris, P., additional, Tsiachris, D., additional, Mytas, D., additional, Asimakopoulos, S., additional, Stefanadis, C., additional, Sideris, S., additional, Kartsagoulis, E., additional, Barbosa, O., additional, Marocolo Junior, M., additional, Silva Cortes, R., additional, Moraes Brandolis, R. A., additional, Oliveira, L. F., additional, Pertili Rodrigues De Resende, L. A., additional, Vieira Da Silva, M. A., additional, Dias Da Silva, V. J., additional, Hegazy, R. A., additional, Sharaf, I. A., additional, Fadel, F., additional, Bazaraa, H., additional, Esam, R., additional, Deshko, M. S., additional, Snezhitsky, V. A., additional, Stempen, T. P., additional, Kuroki, K., additional, Igawa, M., additional, Kuga, K., additional, Ferreira Santos, L., additional, Dionisio, T., additional, Nunes, L., additional, Machado, J., additional, Castedo, S., additional, Henriques, C., additional, Matos, A., additional, Oliveira Santos, J., additional, Kraaier, K., additional, Olimulder, M. A. G. M., additional, Galjee, M. A., additional, Van Dessel, P. F. H. M., additional, Van Der Palen, J., additional, Wilde, A. A. M., additional, Scholten, M. F., additional, Chouchou, F., additional, Poupard, L., additional, Philippe, C., additional, Court-Fortune, I., additional, Barthelemy, J.- C., additional, Roche, F., additional, Dolgoshey, T. S., additional, Madekina, G. A., additional, Sugiura, S., additional, Fujii, E., additional, Senga, M., additional, Dohi, K., additional, Sugiura, E., additional, Nakamura, M., additional, Ito, M., additional, Eitel, C., additional, Mendell, J., additional, Lasseter, K., additional, Shi, M., additional, Urban, L., additional, Hatala, R., additional, Hlivak, P., additional, De Melis, M., additional, Garutti, C., additional, Corbucci, G., additional, Mlcochova, H., additional, Maxian, R., additional, Arbelo, E., additional, Dogac, A., additional, Luepkes, C., additional, Ploessnig, M., additional, Chronaki, C., additional, Hinterbuchner, L., additional, Guillen, A., additional, Bun, S. S., additional, Latcu, D. G., additional, Franceschi, F., additional, Prevot, S., additional, Koutbi, L., additional, Ricard, P., additional, Saoudi, N., additional, Nazari, N., additional, Alizadeh, A., additional, Sayah, S., additional, Hekmat, M., additional, Assadian, M., additional, Ahmadzadeh, A., additional, Wnuk, M., additional, Jedrzejczyk-Spaho, J., additional, Kruszelnicka, O., additional, Piwowarska, W., additional, Fedorowski, A., additional, Burri, P., additional, Juul-Moller, S., additional, Melander, O., additional, Mitro, P., additional, Murin, P., additional, Kirsch, P., additional, Habalova, V., additional, Slaba, E., additional, Matyasova, E., additional, Barlow, M. A., additional, Blake, R. J., additional, Rostoff, P., additional, Wojewodka Zak, E., additional, Froidevaux, L., additional, Sarasin, F. P., additional, Louis-Simonet, M., additional, Hugli, O., additional, Yersin, B., additional, Schlaepfer, J., additional, Mischler, C., additional, Pruvot, E., additional, Occhetta, E., additional, Frascarelli, F., additional, Burali, A., additional, and Dovellini, E., additional

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2011
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26. Hot topics: arrhythmias

Author

Chik, W. W. B., primary, Robinson, D., additional, Malchano, Z., additional, Allison, J., additional, Saadat, V., additional, Kovoor, P., additional, Thomas, S. P., additional, Thiagalingam, A., additional, Bulava, A., additional, Hanis, J., additional, Osmera, O., additional, Rehouskova, K., additional, Sitek, D., additional, Novotny, A., additional, Aldhoon, B., additional, Wichterle, D., additional, Peichl, P., additional, Cihak, R., additional, Kautzner, J., additional, Le Heuzey, J.- Y., additional, Breithardt, G., additional, Camm, A. J., additional, Crijns, H. J., additional, Dorian, P., additional, Kowey, P. R., additional, Naditch-Brule, L., additional, Prystowsky, E. N., additional, Baruteau, A.- E., additional, Behaghel, A., additional, Chatel, S., additional, Mabo, P., additional, Schott, J. J., additional, Daubert, J. C., additional, Le Marec, H., additional, Probst, V., additional, Regoli, F., additional, Nucifora, G., additional, Faletra, F., additional, Pasotti, E., additional, Pedrazzini, G., additional, Moccetti, T., additional, Auricchio, A., additional, Szili-Torok, T., additional, Ujvari, B., additional, Bauernfeind, T., additional, Domburg, R. T., additional, Balk, A., additional, Jordaens, L., additional, Simoons, M., additional, Caliskan, K., additional, Uldry, L., additional, Van Zaen, J., additional, Kappenberger, L., additional, Vesin, J. M., additional, Ferreira Santos, L., additional, Pereira, T., additional, Rodrigues, B., additional, Machado, J., additional, Castedo, S., additional, Henriques, C., additional, Matos, A., additional, Oliveira Santos, J., additional, and Buttu, A., additional

Published
2011
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27. Young Investigator Abstract Session

Author

Santos, L. F., primary, Pereira, T., additional, Rodrigues, B., additional, Correia, E., additional, Moreira, D., additional, Vidinha, J., additional, Nunes, L., additional, Costa, A., additional, Machado, J., additional, Castedo, S., additional, Santos, O., additional, Luo, X., additional, Pan, Z., additional, Xiao, J., additional, Zhang, J., additional, Lu, Y., additional, Yang, B., additional, Wang, Z., additional, Ortega, M. C., additional, Morejon, A. E. G., additional, Heo, J. Y., additional, Madras, A., additional, and Barin, E., additional

Published
2011
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28. Brugada Syndrome

Author

Pereira, T., primary, Santos, L. F., additional, Rodrigues, B., additional, Moreira, D., additional, Vidinha, J., additional, Nunes, L., additional, Costa, A., additional, Machado, J., additional, Castedo, S., additional, Santos, O., additional, Tuan, N. T., additional, Razali, O., additional, Surinder, K., additional, Azlan, H., additional, Zunida, A., additional, Tay, G. S., additional, Noor, A., additional, Bonny, A., additional, Hidden-Lucet, F., additional, Ditah, I., additional, Larrazet, F., additional, Frank, R., additional, Fontaine, G., additional, Keung, L. Y., additional, Shing, M. N., additional, Ting, L. S., additional, Tim, T. P., additional, Yin, C. N., additional, Chung, C. C., additional, Leung, L. C., additional, Shan, C. P., additional, Chuen, Y. H., additional, Fan, C. H., additional, Yu, C. Y., additional, Bin-bin, Y., additional, Hasimu, B., additional, Kai, Z., additional, and Fang, M., additional

Published
2011
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29. CYTOGENETIC FINDINGS IN 11 GASTRIC CARCINOMAS

Author

SERUCA, R, CASTEDO, S, CORREIA, C, GOMES, P, CARNEIRO, F, SOARES, P, DEJONG, B, and SOBRINHOSIMOES, M

Subjects
HETEROZYGOSITY, Y-CHROMOSOME, CANCER, SEQUENCE, REGION
Abstract

We describe the results of the cytogenetic study of 10 primary adenocarcinomas of the stomach and one lymph node metastasis of a gastric adenocarcinoma after direct harvesting or short-term in vitro culture. All cases showed a variable number of numerical and/or structural clonal cytogenetic aberrations. Polysomy of chromosomes 2 and 20 were the most common numerical abnormalities. Rearrangements of chromosomes 1, 3, 7, and 13 were each observed in more than half the cases. Chromosomes 3 and 13 were the chromosomes more often exhibiting structural cytogenetic aberrations. In five tumors, rearrangements of chromosome 6 resulting in partial deletion of 6q were noted (common deleted region 6q21-22-->qter). The recurrent markers observed in our series were an i(8q) and an i(17q) in three and two cases, respectively. Double minutes (dmin) or homogeneously staining regions (hsr) were evident in three tumors. Contrary to the recent claim that structural abnormalities affecting 11p13-p15 were specifically involved in gastric cancer, we detected rearrangements of this region in only two cases.

Published
1993

39. Eleven novel APC mutations identified in Portuguese FAP families

Author

Isidro, G., primary, Matos, P., additional, Almeida, S., additional, Claudino, S., additional, Marshall, B., additional, Soares, J., additional, Leite, J., additional, Regateiro, F., additional, Brito, M.J., additional, Giria, J., additional, Castro, C., additional, Ramos, J., additional, Novais, L., additional, Morna, H., additional, Medeira, A., additional, Castedo, S., additional, and Boavida, M.G., additional

Published
2000
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40. Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families

Author

Isidro, G., primary, Veiga, I., additional, Matos, P., additional, Almeida, S., additional, Bizarro, S., additional, Marshall, B., additional, Baptista, M., additional, Leite, J., additional, Regateiro, F., additional, Soares, J., additional, Castedo, S., additional, and Boavida, M.G., additional

Published
2000
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