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61.
Heterogeneous pattern of chromosomal breakpoints involving the MYC locus in multiple myeloma 总被引:2,自引:0,他引:2
Fabris S Storlazzi CT Baldini L Nobili L Lombardi L Maiolo AT Rocchi M Neri A 《Genes, chromosomes & cancer》2003,37(3):261-269
Chromosomal rearrangements of the MYC locus, which often involve the IG loci, are recurrent events in multiple myeloma (MM) and plasma cell leukemia (PCL). We used dual-color fluorescence in situ hybridization (FISH) to characterize the breakpoint locations of chromosomal translocations/rearrangements involving the MYC locus at 8q24 found in a panel of 14 MM cell lines and 70 primary tumors (66 MM and 4 PCL). MYC locus alterations were observed in 21 cases: MYC/IG (mainly IGH@) fusions in 11 cell lines and three patients (2 MM and 1 PCL), and extra signals and/or abnormal MYC localizations in seven patients (5 MM and 2 PCL). Fourteen of these cases were investigated by FISH analyses by use of a panel of BAC clones covering about 6 Mb encompassing the MYC locus. The breakpoints were localized in a region 100-250 kb centromeric to MYC in four cases, a region 500-800 kb telomeric to the gene in four cases, and regions > or = 2 Mb centromeric or telomeric to MYC in five cases. Two different breakpoints were detected in the KMS-18 cell line, whereas the insertion of a MYC allele was found in a complex t(16;22) chromosomal translocation in the RPMI8226 cell line. Our data document a relatively high dispersion of 8q24 breakpoints in MM. 相似文献
62.
Maria do Carmo Debur Juliano Bordignon Claudia Nunes Duarte dos Santos Luine Rosele Vidal Meri Bordignon Nogueira Sérgio Monteiro de Almeida Sonia Mara Raboni 《Journal of clinical virology》2007,39(1):59-62
BACKGROUND: Human metapneumovirus (hMPV) has been described as an etiologic agent of acute respiratory infections (ARI), mainly in pediatric patients. Viral isolation is difficult and has low sensitivity, and consequently RT-PCR assays are currently used for detection. OBJECTIVES: Detect hMPV in ARI in hospitalized children in Southern Brazil; standardize a RT-PCR for routine hMPV diagnosis; validate a positive control for molecular tests; and perform phylogenetics analyses. STUDY DESIGN: Nasopharyngeal aspirates (NPA) from 156 hospitalized children were studied. A conserved region of the nucleoprotein gene was cloned, characterized and used to standardize an RT-PCR assay. Phylogenetic analyses were performed. Clinical data were obtained from medical records. RESULTS: hMPV was detected in 6.4% of the samples. Dyspnea and wheezing were frequently reported symptoms and the most common diagnoses were bronchiolitis, acute respiratory insufficiency or laryngotracheobronchitis. Nucleotide sequence alignment revealed 97.7% identity with genotype A1 of hMPV. The detection limit of hMPV genomes by RT-PCR in clinical samples was 180 copies/microL. CONCLUSION: This is the first report of the detection and genetic characterization of hMPV infections in children with lower ARI in Southern Brazil. 相似文献
63.
Marco Crocco Angela Calvi Paolo Gandullia Federica Malerba Anthea Mariani Sonia Di Profio Barbara Tappino Stefano Bonassi 《Nutrients》2021,13(2)
We aimed to assess Health-Related Quality of Life (HRQoL) of Italian children and their parents with coeliac disease (CD) using the Coeliac Disease Dutch Questionnaire (CDDUX). The CDDUX underwent a cross-cultural adaptation in a multi-step process, according to international guidelines. A total of 224 children aged between 8–18 years and their parents were prospectively recruited. Cronbach α coefficient was determined as a measure of internal consistency of the questionnaire and inter-children/parent reliability by intraclass correlation coefficient. Univariate and bivariate regression models were used to evaluate correlations between clinical variables and children and parents subclasses of CDDUX and overall mean Paediatric Quality of Life Inventory (PedsQL). The Italian CDDUX proved to be valid and reliable, mean CDDUX total score revealing a neutral evaluation of the quality of life in children 52.6 ± 17.2 and parents 49.5 ± 17.9 (p = 0.07) with strong correlation with PedsQL. The only clinical variable which appeared to affect significantly quality of life both in children and parents was the lower age. A comparison with our results showed remarkable differences in the HRQoL of populations of various nationalities. The Italian version of the CDDUX questionnaire is a simple and reliable tool for assessing the HRQoL in children and adolescents with CD. 相似文献
64.
Asher Y. Rosinger Samantha M. Olson Sascha R. Ellington Janice Perez-Padilla Regina M. Simeone Caitlin S. Pedati Betsy A. Schroeder Gilberto A. Santiago Freddy A. Medina Jorge L. Muoz-Jordn Laura E. Adams Romeo R. Galang Miguel Valencia-Prado Sonia Bakkour Candimar Coln Mary Goodwin Dana Meaney-Delman Jennifer S. Read Lyle R. Petersen Denise J. Jamieson Carmen C. Deseda Margaret A. Honein Brenda Rivera-García Carrie K. Shapiro-Mendoza 《Emerging infectious diseases》2021,27(5):1505
We evaluated nucleic acid amplification testing (NAAT) for Zika virus on whole-blood specimens compared with NAAT on serum and urine specimens among asymptomatic pregnant women during the 2015–2016 Puerto Rico Zika outbreak. Using NAAT, more infections were detected in serum and urine than in whole blood specimens. 相似文献
65.
Grad Roland Leger Daniel Kaczorowski Janusz Schuster Tibor Adler Samara Aman Marya Archibald Douglas Beaulieu Marie-Claude Chmelicek John Cornelissen Evelyn Delleman Bethany Hadj-Mimoune Sonia Horvey Samantha Macaluso Steven Mintsioulis Stephen Murdoch Stuart Ng Brian Papineau Alain Rangwala Sohil Rousseau Mathieu Rudkin Teresa Schabort Inge Schultz Karen Snow Pamela Wong Eric Wu Pearson Brailovsky Carlos 《Advances in health sciences education : theory and practice》2021,26(3):771-783
Advances in Health Sciences Education - Spaced education is a learning strategy to improve knowledge acquisition and retention. To date, no robust evidence exists to support the utility of spaced... 相似文献
66.
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68.
Josefine Jnsson Kristina M. Renault Sonia García-Calzn Alexander Perfilyev Angela C. Estampador Kirsten Nrgaard Mads Vendelbo Lind Allan Vaag Line Hjort Kim F. Michaelsen Emma Malchau Carlsen Paul W. Franks Charlotte Ling 《Diabetes》2021,70(4):854
Maternal obesity may lead to epigenetic alterations in the offspring and might thereby contribute to disease later in life. We investigated whether a lifestyle intervention in pregnant women with obesity is associated with epigenetic variation in cord blood and body composition in the offspring. Genome-wide DNA methylation was analyzed in cord blood from 208 offspring from the Treatment of Obese Pregnant women (TOP)-study, which includes pregnant women with obesity randomized to lifestyle interventions comprised of physical activity with or without dietary advice versus control subjects (standard of care). DNA methylation was altered at 379 sites, annotated to 370 genes, in cord blood from offspring of mothers following a lifestyle intervention versus control subjects (false discovery rate [FDR] <5%) when using the Houseman reference-free method to correct for cell composition, and three of these sites were significant based on Bonferroni correction. These 370 genes are overrepresented in gene ontology terms, including response to fatty acids and adipose tissue development. Offspring of mothers included in a lifestyle intervention were born with more lean mass compared with control subjects. Methylation at 17 sites, annotated to, for example, DISC1, GBX2, HERC2, and HUWE1, partially mediates the effect of the lifestyle intervention on lean mass in the offspring (FDR <5%). Moreover, 22 methylation sites were associated with offspring BMI z scores during the first 3 years of life (P < 0.05). Overall, lifestyle interventions in pregnant women with obesity are associated with epigenetic changes in offspring, potentially influencing the offspring’s lean mass and early growth. 相似文献
69.
Daniela de Queiroz Moura Ramon Rawache Marília Ferreira Gomes Garcia Nathalia Farias Vasconcelos Priscila Santos Gustavo Rego Coelho Thiago Luis da Paz Santos Duílio Reis da Rocha Filho Sonia Leite da Silva Eliana Regia Barbosa de Almeida Paula F.C.B.C. Fernandes João Batista Cerqueira José Huygens Parente Garcia Claudia Maria Costa de Oliveira 《Transplantation proceedings》2021,53(4):1345-1349
Transplantation of any organ has some inherent risk of disease transmission, such as infection and malignancy. The present study aims to describe 2 cases of choriocarcinoma transmission after kidney and liver transplantation originating from the same patient. The donor was a 17-year-old woman who died of cerebral hemorrhage. Both organ recipients died of metastatic choriocarcinoma few months after the transplantation, within days after starting chemotherapy. Retrospective hCG (human chorionic gonadotropin hormone) analysis in donor's blood stored at the time of donation had a result of 9324 mIU/mL. Despite its rarity, clinicians should be aware of the risk of transplant-related choriocarcinoma from female donors in childbearing age. In some cases, hCG dosage should be performed before donation. 相似文献
70.
Cecilia Nakid-Cordero Sylvain Choquet Nicolas Gauthier Noureddine Balegroune Nadine Tarantino Véronique Morel Nadia Arzouk Sonia Burrel Géraldine Rousseau Frédéric Charlotte Martin Larsen Vincent Vieillard Brigitte Autran Véronique Leblond Amélie Guihot for the K-VIROGREF Study Group 《American journal of transplantation》2021,21(8):2846-2863
EBV-positive and EBV-negative posttransplant lymphoproliferative disorders (PTLDs) arise in different immunovirological contexts and might have distinct pathophysiologies. To examine this hypothesis, we conducted a multicentric prospective study with 56 EBV-positive and 39 EBV-negative PTLD patients of the K-VIROGREF cohort, recruited at PTLD diagnosis and before treatment (2013–2019), and compared them to PTLD-free Transplant Controls (TC, n = 21). We measured absolute lymphocyte counts (n = 108), analyzed NK- and T cell phenotypes (n = 49 and 94), and performed EBV-specific functional assays (n = 16 and 42) by multiparameter flow cytometry and ELISpot-IFNγ assays (n = 50). EBV-negative PTLD patients, NK cells overexpressed Tim-3; the 2-year progression-free survival (PFS) was poorer in patients with a CD4 lymphopenia (CD4+<300 cells/mm3, p < .001). EBV-positive PTLD patients presented a profound NK-cell lymphopenia (median = 60 cells/mm3) and a high proportion of NK cells expressing PD-1 (vs. TC, p = .029) and apoptosis markers (vs. TC, p < .001). EBV-specific T cells of EBV-positive PTLD patients circulated in low proportions, showed immune exhaustion (p = .013 vs. TC) and poorly recognized the N-terminal portion of EBNA-3A viral protein. Altogether, this broad comparison of EBV-positive and EBV-negative PTLDs highlight distinct patterns of immunopathological mechanisms between these two diseases and provide new clues for immunotherapeutic strategies and PTLD prognosis. 相似文献