Search

Your search keyword '"Cavalli, P"' showing total 30 results
Start Over Author "Cavalli, P" Publisher biomed central
30 results on '"Cavalli, P"'

1. Long-term outcome of autologous haematopoietic stem cell transplantation in patients with systemic sclerosis: a comparison with patients treated with rituximab and with traditional immunosuppressive agents

Author

Del Papa, Nicoletta, Cavalli, Silvia, Rindone, Andrea, Onida, Francesco, Saporiti, Giorgia, Minniti, Antonina, Pellico, Maria Rosa, Iannone, Claudia, Trignani, Giorgia, D’Angelo, Nicoletta, Sette, Manuel, Greco, Raffaella, Vitali, Claudio, and Caporali, Roberto

Published
2024
Full Text
View/download PDF

19. Factors influencing liberation from mechanical ventilation in coronavirus disease 2019: multicenter observational study in fifteen Italian ICUs

Author

Gamberini, Lorenzo, Tonetti, Tommaso, Spadaro, Savino, Zani, Gianluca, Mazzoli, Carlo Alberto, Capozzi, Chiara, Giampalma, Emanuela, Bacchi Reggiani, Maria Letizia, Bertellini, Elisabetta, Castelli, Andrea, Cavalli, Irene, Colombo, Davide, Crimaldi, Federico, Damiani, Federica, Fogagnolo, Alberto, Fusari, Maurizio, Gamberini, Emiliano, Gordini, Giovanni, Laici, Cristiana, Lanza, Maria Concetta, Leo, Mirco, Marudi, Andrea, Nardi, Giuseppe, Ottaviani, Irene, Papa, Raffaella, Potalivo, Antonella, Russo, Emanuele, Taddei, Stefania, Volta, Carlo Alberto, and Ranieri, V. Marco

Published
2020
Full Text
View/download PDF

28. Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?

Author

Lissoni, S, Baronchelli, S, Villa, N, Lucchini, V, Betri, E, Cavalli, P, Dalpra', L, LISSONI, SARA, BARONCHELLI, SIMONA, DALPRA', LEDA, Lissoni, S, Baronchelli, S, Villa, N, Lucchini, V, Betri, E, Cavalli, P, Dalpra', L, LISSONI, SARA, BARONCHELLI, SIMONA, and DALPRA', LEDA

Abstract

Premature ovarian failure (POF) is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome anomalies account for 6-8% of POF cases, but only few cases are associated with translocations involving X and Y chromosomes. This study shows the cytogenetic and molecular analysis of a POF patient came to our attention as she developed a left ovary choriocarcinoma at the age of 10 and at 14 years of age she presented secondary amenorrhea with elevated levels of gonadotropins. Breakpoint position on X and Y chromosomes was investigated using Fluorescent In Situ Hybridisation (FISH) with a panel of specific BAC probes, microsatellite analysis and evaluation of copy number changes and loss of heterozigosity by Affymetrix® GeneChip platform (Santa Clara, CA, USA). Patient's karyotype resulted 46, X, der(Y)t(X;Y)(q13.1;q11.223). X inactivation study was assessed by RBA banding and showed preferential inactivation of derivative chromosome. The reciprocal spatial disposition of sexual chromosome territories was investigated using whole chromosome painting and centromeres probes: patient's results didn't show a significant difference in comparison to normal controls.The peculiar clinical case come to our attention highlighted the complexity of POF aetiology and of the translocation event, even if our results seem to exclude any effect on nuclear organisation. POF phenotype could be partially explained by skewed X chromosome inactivation that influences gene expression.

Published
2009

29. Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.

Author

Castronovo C, Valtorta E, Crippa M, Tedoldi S, Romitti L, Amione MC, Guerneri S, Rusconi D, Ballarati L, Milani D, Grosso E, Cavalli P, Giardino D, Bonati MT, Larizza L, and Finelli P

Abstract

Background: Small supernumerary marker chromosomes (sSMCs) are additional, structurally abnormal chromosomes, generally smaller than chromosome 20 of the same metaphase spread. Due to their small size, they are difficult to characterize by conventional cytogenetics alone. In regard to their clinical effects, sSMCs are a heterogeneous group: in particular, sSMCs containing pericentromeric euchromatin are likely to be associated with abnormal outcomes, although exceptions have been reported. To improve characterization of the genetic content of sSMCs, several approaches might be applied based on different molecular and molecular-cytogenetic assays, e.g., fluorescent in situ hybridization (FISH), array-based comparative genomic hybridization (array CGH), and multiplex ligation-dependent probe amplification (MLPA).To provide a complementary tool for the characterization of sSMCs, we constructed and validated a new, FISH-based, pericentromeric Bacterial Artificial Chromosome (BAC) clone set that with a high resolution spans the most proximal euchromatic sequences of all human chromosome arms, excluding the acrocentric short arms., Results: By FISH analysis, we assayed 561 pericentromeric BAC probes and excluded 75 that showed a wrong chromosomal localization. The remaining 486 probes were used to establish 43 BAC-based pericentromeric panels. Each panel consists of a core, which with a high resolution covers the most proximal euchromatic ~0.7 Mb (on average) of each chromosome arm and generally bridges the heterochromatin/euchromatin junction, as well as clones located proximally and distally to the core. The pericentromeric clone set was subsequently validated by the characterization of 19 sSMCs. Using the core probes, we could rapidly distinguish between heterochromatic (1/19) and euchromatic (11/19) sSMCs, and estimate the euchromatic DNA content, which ranged from approximately 0.13 to more than 10 Mb. The characterization was not completed for seven sSMCs due to a lack of information about the covered region in the reference sequence (1/19) or sample insufficiency (6/19)., Conclusions: Our results demonstrate that this pericentromeric clone set is useful as an alternative tool for sSMC characterization, primarily in cases of very small SMCs that contain either heterochromatin exclusively or a tiny amount of euchromatic sequence, and also in cases of low-level or cryptic mosaicism. The resulting data will foster knowledge of human proximal euchromatic regions involved in chromosomal imbalances, thereby improving genotype-phenotype correlations.

Published
2013
Full Text
View/download PDF

30. Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?

Author

Lissoni S, Baronchelli S, Villa N, Lucchini V, Betri E, Cavalli P, and Dalprà L

Abstract

Background: Premature ovarian failure (POF) is a secondary hypergonadotrophic amenorrhea occurring before the age of 40 and affecting 1-3% of females. Chromosome anomalies account for 6-8% of POF cases, but only few cases are associated with translocations involving X and Y chromosomes.This study shows the cytogenetic and molecular analysis of a POF patient came to our attention as she developed a left ovary choriocarcinoma at the age of 10 and at 14 years of age she presented secondary amenorrhea with elevated levels of gonadotropins., Results: Breakpoint position on X and Y chromosomes was investigated using Fluorescent In Situ Hybridisation (FISH) with a panel of specific BAC probes, microsatellite analysis and evaluation of copy number changes and loss of heterozigosity by Affymetrix(R) GeneChip platform (Santa Clara, CA, USA). Patient's karyotype resulted 46, X, der(Y)t(X;Y)(q13.1;q11.223). X inactivation study was assessed by RBA banding and showed preferential inactivation of derivative chromosome. The reciprocal spatial disposition of sexual chromosome territories was investigated using whole chromosome painting and centromeres probes: patient's results didn't show a significant difference in comparison to normal controls., Conclusion: The peculiar clinical case come to our attention highlighted the complexity of POF aetiology and of the translocation event, even if our results seem to exclude any effect on nuclear organisation. POF phenotype could be partially explained by skewed X chromosome inactivation that influences gene expression.

Published
2009
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results