Search

Your search keyword '"Andreassi, Maria Grazia"' showing total 592 results
Start Over Author "Andreassi, Maria Grazia" Publication Year Range Last 50 years
592 results on '"Andreassi, Maria Grazia"'

3. Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.

Author

Carlisle, Steven G., Albasha, Hasan, Michelena, Hector I., Sabate-Rotes, Anna, Bianco, Lisa, De Backer, Julie, Mosquera, Laura Muiño, Yetman, Anji T., Bissell, Malenka M., Andreassi, Maria Grazia, Foffa, Ilenia, Hui, Dawn S., Caffarelli, Anthony, Kim, Yuli Y., Guo, Dongchuan, Citro, Rodolfo, De Marco, Margot, Tretter, Justin T., McBride, Kim L., and Milewicz, Dianna M.

Subjects
THORACIC aneurysms, DNA copy number variations, AORTIC valve, MITRAL valve, AORTIC valve diseases
Abstract

Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges from early onset valve and aortic complications (EBAV) to sporadic late onset disease. Rare genomic copy number variants (CNVs) have previously been implicated in the development of BAV and thoracic aortic aneurysms. We determined the frequency and gene content of rare CNVs in EBAV probands (n = 272) using genome-wide SNP microarray analysis and three complementary CNV detection algorithms (cnvPartition, PennCNV, and QuantiSNP). Unselected control genotypes from the Database of Genotypes and Phenotypes were analyzed using identical methods. We filtered the data to select large genic CNVs that were detected by multiple algorithms. Findings were replicated in a BAV cohort with late onset sporadic disease (n = 5040). We identified 3 large and rare (< 1,1000 in controls) CNVs in EBAV probands. The burden of CNVs intersecting with genes known to cause BAV when mutated was increased in case-control analysis. CNVs intersecting with GATA4 and DSCAM were enriched in cases, recurrent in other datasets, and segregated with disease in families. In total, we identified potentially pathogenic CNVs in 9% of EBAV cases, implicating alterations of candidate genes at these loci in the pathogenesis of BAV. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

4. Bicuspid Aortic Valve Disease with Early-Onset Complications: Characteristics and Aortic Outcomes.

Author

Selbst, Maximilian A., Ward, Colin R., Svetgoff, Megan L., Michelena, Hector I., Sabate-Rotes, Anna, De Backer, Julie, Mosquera, Laura Muiño, Yetman, Anji T., Bissell, Malenka M., Andreassi, Maria Grazia, Foffa, Ilenia, Hui, Dawn S., Caffarelli, Anthony, Kim, Yuli Y., Guo, Dongchuan, Citro, Rodolfo, De Marco, Margot, Tretter, Justin T., Morris, Shaine A., and McBride, Kim L.

Subjects
CONGENITAL heart disease, YOUNG adults, THORACIC aneurysms, MITRAL valve, AORTIC valve diseases
Abstract

Bicuspid aortic valve (BAV) is the most common congenital heart malformation in adults, but it can also cause childhood-onset complications. The presentation and clinical course of young adults who present due to BAV complications are relatively uncharacterized. In a multicenter study, we found that young people who experience significant complications related to BAV disease before age 30 are distinguished from the majority of BAV cases that manifest after age 50 by a relatively severe clinical course, with higher rates of surgical interventions, more frequent second interventions, and a greater burden of congenital heart malformations. These observations highlight the need for prompt recognition, regular lifelong surveillance, and targeted interventions to address the significant health burdens of patients with early-onset BAV complications. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

6. Abstract 15501: Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve

Author

Carlisle, Steven G, Albasha, Hasan, Michelena, Hector I, Sabate-Rotes, Anna, Bianco, Lisa, DeBacker, Julie, Muino Mosquera, Laura, Yetman, Angela T, Bissell, Malenka, Andreassi, Maria Grazia, Foffa, Ilenia, Hui, Dawn, Caffarelli, Anthony D, Kim, Yuli Y, Guo, Dongchuan, Citro, Rodolfo, De Marco, Margot, Tretter, Justin, Hanchard, Neil A, Belmont, John W, McBride, Kim L, Body, Simon C, and Prakash, Siddharth K

Published
2022
Full Text
View/download PDF

7. The burden of radiation exposure in congenital heart disease: the Italian cohort profile and bioresource collection in HARMONIC project.

Author

Campolo, Jonica, Annoni, Giuseppe, Vignati, Gabriele, Peretti, Alessio, Papa, Marco, Colombo, Paola Enrica, Muti, Gaia, Parolini, Marina, Borghini, Andrea, Giaccardi, Marzia, Ait-Alì, Lamia, Picano, Eugenio, and Andreassi, Maria Grazia

Subjects
CONGENITAL heart disease, RISK assessment, DATA analysis, RESEARCH funding, RADIATION, EARLY detection of cancer, RETROSPECTIVE studies, DESCRIPTIVE statistics, BIOLOGICAL products, AGE distribution, TUMOR markers, PEDIATRICS, LONGITUDINAL method, STATISTICS, RADIATION carcinogenesis, CARDIAC catheterization, FLUOROSCOPY, DISEASE risk factors
Abstract

Background: The European-funded Health Effects of Cardiac Fluoroscopy and Modern Radiotherapy in Pediatrics (HARMONIC) project aims to improve knowledge on the effects of medical exposure to ionizing radiation (IR) received during childhood. One of its objectives is to build a consolidated European cohort of pediatric patients who have undergone cardiac catheterization (Cath) procedures, with the goal of enhancing the assessment of long-term radiation-associated cancer risk. The purpose of our study is to provide a detailed description of the Italian cohort contributing to the HARMONIC project, including an analysis of cumulative IR exposure, reduction trend over the years and an overview of the prospective collection of biological samples for research in this vulnerable population. Methods: In a single-center retrospective cohort study, a total of 584 patients (323 males) with a median age of 6 (2–13) years, referred at the Pediatric Cardiology in Niguarda Hospital from January 2015 to October 2023, were included. Biological specimens from a subset of 60 patients were prospectively collected for biobanking at baseline, immediately post-procedure and after 12 months. Results: Two hundred fifty-nine (44%) patients were under 1 year old at their first procedure. The median KAP/weight was 0.09 Gy·cm2/kg (IQR: 0.03–0.20), and the median fluoroscopy time was 8.10 min (IQR: 4.00–16.25). KAP/weight ratio showed a positive correlation with the fluoroscopy time (Spearman's rho = 0.679, p < 0.001). Significant dose reduction was observed either after implementation of an upgraded technology system and a radiation training among staff. The Italian cohort includes 1858 different types of specimens for Harmonic biobank, including blood, plasma, serum, clot, cell pellet/lymphocytes, saliva. Conclusions: In the Italian Harmonic cohort, radiation dose in cardiac catheterization varies by age and procedure type. An institution's radiological protection strategy has contributed to a reduction in radiation dose over time. Biological samples provide a valuable resource for future research, offering an opportunity to identify potential early biomarkers for health surveillance and personalized risk assessment. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

13. Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve

Author

Carlisle, Steven G, primary, Albasha, Hasan, additional, Michelena, Hector, additional, Sabate-Rotes, Anna, additional, Bianco, Lisa, additional, De Backer, Julie, additional, Mosquera, Laura Muiño, additional, Yetman, Anji T., additional, Bissell, Malenka M, additional, Andreassi, Maria Grazia, additional, Foffa, Ilenia, additional, Hui, Dawn S., additional, Caffarelli, Anthony, additional, Kim, Yuli Y., additional, Guo, Dongchuan, additional, Citro, Rodolfo, additional, De Marco, Margot, additional, Tretter, Justin T., additional, McBride, Kim L., additional, Milewicz, Dianna M., additional, Body, Simon C, additional, and Prakash, Siddharth, additional

Published
2023
Full Text
View/download PDF

17. B-lines with Lung Ultrasound: The Optimal Scan Technique at Rest and During Stress

Author

Picano, Eugenio, Ciampi, Quirino, Citro, Rodolfo, D'Andrea, Antonello, Scali, Maria Chiara, Cortigiani, Lauro, Olivotto, Iacopo, Mori, Fabio, Galderisi, Maurizio, Costantino, Marco Fabio, Pratali, Lorenza, di Salvo, Giovanni, Bossone, Eduardo, Ferrara, Francesco, Kasprszak, Jaroslaw D., Rigo, Fausto, Gaibazzi, Nicola, Limongelli, Giuseppe, Pacileo, Giuseppe, Severino, Sergio, Pinamonti, Bruno, Massa, Laura, Torres, Marco A.R., Miglioranza, Marcelo H., Daros, Clarissa Borguezan, Luis de Castro e Silva Pretto, José, Djordjevic-Dikic, Ana, Dekleva, Milica, Varga, Albert, Agoston, Gergely, Palinkas, Attila, Zagatina, Angela, Simova, Iana, Amor, Miguel, Lowenstein, Jorge, Merlo, Pablo, Celutkiene, Jelena, Perez, Julio E., Trambaiolo, Paolo, Gregori, Dario, Colonna, Paolo, Andreassi, Maria Grazia, De Nes, Michele, Arystan, Ayana, Paterni, Marco, Carpeggiani, Clara, Zhuravskaya, Nadezhda, and Marzilli, Mario

Published
2017
Full Text
View/download PDF

19. A Longitudinal Study of Individual Radiation Responses in Pediatric Patients Treated with Proton and Photon Radiotherapy, and Interventional Cardiology: Rationale and Research Protocol of the HARMONIC Project

Author

Andreassi, Maria Grazia, primary, Haddy, Nadia, additional, Harms-Ringdahl, Mats, additional, Campolo, Jonica, additional, Borghini, Andrea, additional, Chevalier, François, additional, Schwenk, Jochen M., additional, Fresneau, Brice, additional, Bolle, Stephanie, additional, Fuentes, Manuel, additional, and Haghdoost, Siamak, additional

Published
2023
Full Text
View/download PDF

24. A Longitudinal Study of Individual Radiation Responses in Pediatric Patients Treated with Proton and Photon Radiotherapy, and Interventional Cardiology : Rationale and Research Protocol of the HARMONIC Project

Author

Andreassi, Maria Grazia, Haddy, Nadia, Harms-Ringdahl, Mats, Campolo, Jonica, Borghini, Andrea, Chevalier, François, Schwenk, Jochen M., Fresneau, Brice, Bolle, Stephanie, Fuentes, Manuel, Haghdoost, Siamak, Andreassi, Maria Grazia, Haddy, Nadia, Harms-Ringdahl, Mats, Campolo, Jonica, Borghini, Andrea, Chevalier, François, Schwenk, Jochen M., Fresneau, Brice, Bolle, Stephanie, Fuentes, Manuel, and Haghdoost, Siamak

Abstract

The Health Effects of Cardiac Fluoroscopy and Modern Radiotherapy (photon and proton) in Pediatrics (HARMONIC) is a five-year project funded by the European Commission that aimed to improve the understanding of the long-term ionizing radiation (IR) risks for pediatric patients. In this paper, we provide a detailed overview of the rationale, design, and methods for the biological aspect of the project with objectives to provide a mechanistic understanding of the molecular pathways involved in the IR response and to identify potential predictive biomarkers of individual response involved in long-term health risks. Biological samples will be collected at three time points: before the first exposure, at the end of the exposure, and one year after the exposure. The average whole-body dose, the dose to the target organ, and the dose to some important out-of-field organs will be estimated. State-of-the-art analytical methods will be used to assess the levels of a set of known biomarkers and also explore high-resolution approaches of proteomics and miRNA transcriptomes to provide an integrated assessment. By using bioinformatics and systems biology, biological pathways and novel pathways involved in the response to IR exposure will be deciphered.

Published
2023
Full Text
View/download PDF

35. Advanced glycation end products, leukocyte telomere length, and mitochondrial DNA copy number in patients with coronary artery disease and alterations of glucose homeostasis: From the GENOCOR study

Author

Vecoli, Cecilia, primary, Basta, Giuseppina, additional, Borghini, Andrea, additional, Gaggini, Melania, additional, Del Turco, Serena, additional, Mercuri, Antonella, additional, Gastaldelli, Amalia, additional, and Andreassi, Maria Grazia, additional

Published
2022
Full Text
View/download PDF

47. “Micronuclei and Disease” special issue: Aims, scope, and synthesis of outcomes

Author

Fenech, Michael, primary, Knasmueller, Siegfried, additional, Knudsen, Lisbeth E., additional, Kirsch-Volders, Micheline, additional, Deo, Permal, additional, Franzke, Bernhard, additional, Stopper, Helga, additional, Andreassi, Maria-Grazia, additional, Bolognesi, Claudia, additional, Dhillon, Varinderpal S., additional, Laffon, Blanca, additional, Wagner, Karl-Heinz, additional, and Bonassi, Stefano, additional

Published
2021
Full Text
View/download PDF

48. “Micronuclei and Disease” special issue:Aims, scope, and synthesis of outcomes

Author

Fenech, Michael, Knasmueller, Siegfried, Knudsen, Lisbeth E., Kirsch-Volders, Micheline, Deo, Permal, Franzke, Bernhard, Stopper, Helga, Andreassi, Maria Grazia, Bolognesi, Claudia, Dhillon, Varinderpal S., Laffon, Blanca, Wagner, Karl Heinz, Bonassi, Stefano, Fenech, Michael, Knasmueller, Siegfried, Knudsen, Lisbeth E., Kirsch-Volders, Micheline, Deo, Permal, Franzke, Bernhard, Stopper, Helga, Andreassi, Maria Grazia, Bolognesi, Claudia, Dhillon, Varinderpal S., Laffon, Blanca, Wagner, Karl Heinz, and Bonassi, Stefano

Abstract

The purpose of the “Micronuclei and Disease” special issue (SI) is to: (i) Determine the level of evidence for association of micronuclei (MN), a biomarker of numerical and structural chromosomal aberrations, with risk of specific diseases in humans; (ii) Define plausible mechanisms that explain association of MN with each disease; (iii) Identify knowledge gaps and research needed to translate MN assays into clinical practice. The “MN and Disease” SI includes 14 papers. The first is a review of mechanisms of MN formation and their consequences in humans. 11 papers are systematic reviews and/or meta-analyses of the association of MN with reproduction, child health, inflammation, auto-immune disease, glycation, metabolic diseases, chronic kidney disease, cardiovascular disease, eleven common cancers, ageing and frailty. The penultimate paper focuses on effect of interventions on MN frequency in the elderly. A road map for translation of MN data into clinical practice is the topic of the final paper. The majority of reviewed studies were case-control studies in which the ratio of mean MN frequency in disease cases relative to controls, i.e. the mean ratio (MR), was calculated. The mean of these MR values, estimated by meta-analyses, for lymphocyte and buccal cell MN in non-cancer diseases were 2.3 and 3.6 respectively, and for cancers they were 1.7 and 2.6 respectively. The highest MR values were observed in studies of cancer cases in which MN were measured in the same tissue as the tumour (MR = 4.9–10.8). This special issue is an important milestone in the evidence supporting MN as a reliable genomic biomarker of developmental and degenerative disease risk. These advances, together with results from prospective cohort studies, are helping to identify diseases in which MN assays can be practically employed in the clinical setting to better identify high risk patients and to prioritise them for preventive therapy.

Published
2021

49. “Micronuclei and Disease” special issue: Aims, scope, and synthesis of outcomes

Author

Fenech, Michael, Knasmueller, Siegfried, Knudsen, Lisbeth E., Kirsch-Volders, Micheline, Deo, Permal, Franzke, Bernhard, Stopper, Helga, Andreassi, Maria-Grazia, Bolognesi, Claudia, Dhillon, Varinderpal S., Laffon, Blanca, Wagner, Karl-Heinz, Bonassi, Stefano, Fenech, Michael, Knasmueller, Siegfried, Knudsen, Lisbeth E., Kirsch-Volders, Micheline, Deo, Permal, Franzke, Bernhard, Stopper, Helga, Andreassi, Maria-Grazia, Bolognesi, Claudia, Dhillon, Varinderpal S., Laffon, Blanca, Wagner, Karl-Heinz, and Bonassi, Stefano

Abstract

[Abastract] The purpose of the “Micronuclei and Disease” special issue (SI) is to: (i) Determine the level of evidence for association of micronuclei (MN), a biomarker of numerical and structural chromosomal aberrations, with risk of specific diseases in humans; (ii) Define plausible mechanisms that explain association of MN with each disease; (iii) Identify knowledge gaps and research needed to translate MN assays into clinical practice. The “MN and Disease” SI includes 14 papers. The first is a review of mechanisms of MN formation and their consequences in humans. 11 papers are systematic reviews and/or meta-analyses of the association of MN with reproduction, child health, inflammation, auto-immune disease, glycation, metabolic diseases, chronic kidney disease, cardiovascular disease, eleven common cancers, ageing and frailty. The penultimate paper focuses on effect of interventions on MN frequency in the elderly. A road map for translation of MN data into clinical practice is the topic of the final paper. The majority of reviewed studies were case-control studies in which the ratio of mean MN frequency in disease cases relative to controls, i.e. the mean ratio (MR), was calculated. The mean of these MR values, estimated by meta-analyses, for lymphocyte and buccal cell MN in non-cancer diseases were 2.3 and 3.6 respectively, and for cancers they were 1.7 and 2.6 respectively. The highest MR values were observed in studies of cancer cases in which MN were measured in the same tissue as the tumour (MR = 4.9–10.8). This special issue is an important milestone in the evidence supporting MN as a reliable genomic biomarker of developmental and degenerative disease risk. These advances, together with results from prospective cohort studies, are helping to identify diseases in which MN assays can be practically employed in the clinical setting to better identify high risk patients and to prioritise them for preventive therapy.

Published
2021

Catalog

Books, media, physical & digital resources
See catalog results