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2. A call to action for translational sciences in COVID-19 and future pandemics

Author

Wan, Kanny K., Davis, Danielle, Lee, Taylor N., Ford-Scheimer, Stephanie L., Andreu, Antonio L., Bietrix, Florence, Bryans, Justin, Castro, Marco T., Chiba, Nobuyoshi, Faupel-Badger, Jessica M., Haynes, Brittany, Hirasawa, Ryutaro, Morel, Carlos M., Souza, Thiago Moreno L., Morrow, David, Munro, Trent, Newman, Stuart, Ussi, Anton E., Zorzal, Poliana B., Hall, Matthew D., Lo, Donald C., and Cutillo, Christine M.

Published
2022
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3. Recommendations for robust and reproducible preclinical research in personalised medicine

Author

PERMIT group, Fosse, Vibeke, Oldoni, Emanuela, Bietrix, Florence, Budillon, Alfredo, Daskalopoulos, Evangelos P, Fratelli, Maddalena, Gerlach, Björn, Groenen, Peter M A, Hölter, Sabine M, Menon, Julia M L, Mobasheri, Ali, Osborne, Nikki, Ritskes-Hoitinga, Merel, Ryll, Bettina, Schmitt, Elmar, Ussi, Anton, Andreu, Antonio L, McCormack, Emmet, PERMIT group, Fosse, Vibeke, Oldoni, Emanuela, Bietrix, Florence, Budillon, Alfredo, Daskalopoulos, Evangelos P, Fratelli, Maddalena, Gerlach, Björn, Groenen, Peter M A, Hölter, Sabine M, Menon, Julia M L, Mobasheri, Ali, Osborne, Nikki, Ritskes-Hoitinga, Merel, Ryll, Bettina, Schmitt, Elmar, Ussi, Anton, Andreu, Antonio L, and McCormack, Emmet

Abstract

BACKGROUND: Personalised medicine is a medical model that aims to provide tailor-made prevention and treatment strategies for defined groups of individuals. The concept brings new challenges to the translational step, both in clinical relevance and validity of models. We have developed a set of recommendations aimed at improving the robustness of preclinical methods in translational research for personalised medicine.METHODS: These recommendations have been developed following four main steps: (1) a scoping review of the literature with a gap analysis, (2) working sessions with a wide range of experts in the field, (3) a consensus workshop, and (4) preparation of the final set of recommendations.RESULTS: Despite the progress in developing innovative and complex preclinical model systems, to date there are fundamental deficits in translational methods that prevent the further development of personalised medicine. The literature review highlighted five main gaps, relating to the relevance of experimental models, quality assessment practices, reporting, regulation, and a gap between preclinical and clinical research. We identified five points of focus for the recommendations, based on the consensus reached during the consultation meetings: (1) clinically relevant translational research, (2) robust model development, (3) transparency and education, (4) revised regulation, and (5) interaction with clinical research and patient engagement. Here, we present a set of 15 recommendations aimed at improving the robustness of preclinical methods in translational research for personalised medicine.CONCLUSIONS: Appropriate preclinical models should be an integral contributor to interventional clinical trial success rates, and predictive translational models are a fundamental requirement to realise the dream of personalised medicine. The implementation of these guidelines is ambitious, and it is only through the active involvement of all relevant stakeholde

Published
2023

4. Recommendations for robust and reproducible preclinical research in personalised medicine

Author

IRAS OH Toxicology, PERMIT group, Fosse, Vibeke, Oldoni, Emanuela, Bietrix, Florence, Budillon, Alfredo, Daskalopoulos, Evangelos P, Fratelli, Maddalena, Gerlach, Björn, Groenen, Peter M A, Hölter, Sabine M, Menon, Julia M L, Mobasheri, Ali, Osborne, Nikki, Ritskes-Hoitinga, Merel, Ryll, Bettina, Schmitt, Elmar, Ussi, Anton, Andreu, Antonio L, McCormack, Emmet, IRAS OH Toxicology, PERMIT group, Fosse, Vibeke, Oldoni, Emanuela, Bietrix, Florence, Budillon, Alfredo, Daskalopoulos, Evangelos P, Fratelli, Maddalena, Gerlach, Björn, Groenen, Peter M A, Hölter, Sabine M, Menon, Julia M L, Mobasheri, Ali, Osborne, Nikki, Ritskes-Hoitinga, Merel, Ryll, Bettina, Schmitt, Elmar, Ussi, Anton, Andreu, Antonio L, and McCormack, Emmet

Published
2023

5. Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report

Author

Oldoni, Emanuela, primary, Saunders, Gary, additional, Bietrix, Florence, additional, Garcia Bermejo, Maria Laura, additional, Niehues, Anna, additional, ’t Hoen, Peter A. C., additional, Nordlund, Jessica, additional, Hajduch, Marian, additional, Scherer, Andreas, additional, Kivinen, Katja, additional, Pitkänen, Esa, additional, Mäkela, Tomi Pekka, additional, Gut, Ivo, additional, Scollen, Serena, additional, Kozera, Łukasz, additional, Esteller, Manel, additional, Shi, Leming, additional, Ussi, Anton, additional, Andreu, Antonio L., additional, and van Gool, Alain J., additional

Published
2022
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6. Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report

Author

Oldoni, Emanuela, Saunders, Gary, Bietrix, F., Garcia Bermejo, Maria Laura, Niehues, A., Hoen, P.A.C. 't, Andreu, Antonio L., Gool, A.J. van, Oldoni, Emanuela, Saunders, Gary, Bietrix, F., Garcia Bermejo, Maria Laura, Niehues, A., Hoen, P.A.C. 't, Andreu, Antonio L., and Gool, A.J. van

Abstract

Contains fulltext : 284434.pdf (Publisher’s version ) (Open Access)

Published
2022

8. Evaluating Translational Methods for Personalized Medicine—A Scoping Review

Author

Fosse, Vibeke, Oldoni, Emanuela, Gerardi, Chiara, Banzi, Rita, Fratelli, Maddalena, Bietrix, Florence, Ussi, Anton, Andreu, Antonio L, McCormack, Emmet, The Permit Group, and Unión Europea. Comisión Europea. H2020

Subjects
Medicine (miscellaneous), Translational models, Preclinical models, Personalized medicine, Stratified treatment selection
Abstract

The introduction of personalized medicine, through the increasing multi-omics characterization of disease, brings new challenges to disease modeling. The scope of this review was a broad evaluation of the relevance, validity, and predictive value of the current preclinical methodologies applied in stratified medicine approaches. Two case models were chosen: oncology and brain disorders. We conducted a scoping review, following the Joanna Briggs Institute guidelines, and searched PubMed, EMBASE, and relevant databases for reports describing preclinical models applied in personalized medicine approaches. A total of 1292 and 1516 records were identified from the oncology and brain disorders search, respectively. Quantitative and qualitative synthesis was performed on a final total of 63 oncology and 94 brain disorder studies. The complexity of personalized approaches highlights the need for more sophisticated biological systems to assess the integrated mechanisms of response. Despite the progress in developing innovative and complex preclinical model systems, the currently available methods need to be further developed and validated before their potential in personalized medicine endeavors can be realized. More importantly, we identified underlying gaps in preclinical research relating to the relevance of experimental models, quality assessment practices, reporting, regulation, and a gap between preclinical and clinical research. To achieve a broad implementation of predictive translational models in personalized medicine, these fundamental deficits must be addressed. This research was funded by the European Union’s Horizon 2020 research and innovation programme under grant agreement No. 874825. Sí

Published
2022

12. Biomarker Research and Development for Coronavirus Disease 2019 (COVID-19): European Medical Research Infrastructures Call for Global Coordination

Author

Oldoni, Emanuela, Gool, A.J. van, Bermejo, Laura Garcia, Scherer, A., Mayrhofer, Michaela Th, Florindi, Francesco, Ussi, A., Andreu, Antonio L., Oldoni, Emanuela, Gool, A.J. van, Bermejo, Laura Garcia, Scherer, A., Mayrhofer, Michaela Th, Florindi, Francesco, Ussi, A., and Andreu, Antonio L.

Abstract

Contains fulltext : 234979.pdf (Publisher’s version ) (Closed access)

Published
2021

14. Biomarker Research and Development for Coronavirus Disease 2019 (COVID-19): European Medical Research Infrastructures Call for Global Coordination

Author

Oldoni, Emanuela, primary, van Gool, Alain, additional, García Bermejo, Laura, additional, Scherer, Andreas, additional, Mayrhofer, Michaela Th, additional, Florindi, Francesco, additional, Demotes, Jacques, additional, Kubiak, Christine, additional, Fauvel, Anne-Charlotte, additional, Bietrix, Florence, additional, Ussi, Anton, additional, and Andreu, Antonio L, additional

Published
2020
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15. Digitalisation and COVID-19: The Perfect Storm

Author

Horgan, Denis, primary, Hackett, Joanne, additional, Westphalen, C. Benedikt, additional, Kalra, Dipak, additional, Richer, Etienne, additional, Romao, Mario, additional, Andreu, Antonio L., additional, Lal, Jonathan A., additional, Bernini, Chiara, additional, Tumiene, Birute, additional, Boccia, Stefania, additional, and Montserrat, Antoni, additional

Published
2020
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18. Digitalisation and COVID-19: The Perfect Storm

Author

Horgan, Deni, Hackett, Joanne, Westphalen, C Benedikt, Kalra, Dipak, Richer, Etienne, Romao, Mario, Andreu, Antonio L, Lal, Jonathan A, Bernini, Chiara, Tumiene, Birute, Boccia, Stefania, Montserrat, Antoni, Boccia, Stefania (ORCID:0000-0002-1864-749X), Horgan, Deni, Hackett, Joanne, Westphalen, C Benedikt, Kalra, Dipak, Richer, Etienne, Romao, Mario, Andreu, Antonio L, Lal, Jonathan A, Bernini, Chiara, Tumiene, Birute, Boccia, Stefania, Montserrat, Antoni, and Boccia, Stefania (ORCID:0000-0002-1864-749X)

Abstract

“A ship in the harbour is safe, but that is not what ships are built for,” observed that sage 19th century philosopher William Shedd. In other words, technology of high potential is of little value if the potential is not exploited. As the shape of 2020 is increasingly defined by the coronavirus pandemic, digitalisation is like a ship loaded with technology that has a huge capacity for transforming mankind’s combat against infectious disease. But it is still moored safely in harbour. Instead of sailing bravely into battle, it remains at the dockside, cowering from the storm beyond the breakwaters. Engineers and fitters constantly fine-tune it, and its officers and deckhands perfect their operating procedures, but that promise is unfulfilled, restrained by the hesitancy and indecision of officialdom. Out there, the seas of the pandemic are turbulent and uncharted, and it is impossible to know in advance everything of the other dangers that may lurk beyond those cloudy horizons. However, the more noble course is for orders to be given to complete the preparations, to cast off and set sail, and to join other vessels crewed by valiant healthcare workers and tireless researchers, already deeply engaged in a rescue mission for the whole of the human race. It is the destiny of digitalisation to navigate those oceans alongside other members of that task force, and the hour of destiny has arrived. This article focuses on the potential enablers and recommendation to maximise learnings during the era of COVID-19.

Published
2020

22. Genetic and Physiologic Analysis of the Role of Uncoupling Protein 3 in Human Energy Homeostasis

Author

Chung, Wendy K., Luke, Amy, Cooper, Richard S., Rotini, Charles, Vidal-Puig, Antonio, Rosenbaum, Michael, Chua, Melvin, Solanes, Gemma, Zheng, Min, Zhao, Long, LeDuc, Charles, Eisberg, Andrew, Chu, Florence, Murphy, Ellen, Schreier, Mindy, Aronne, Louis, Caprio, Sonia, Kahle, Bowie, Gordon, Derek, Leal, Suzanne M., Goldsmith, Rochelle, Andreu, Antonio L., Bruno, Claudio, DiMauro, Salvatore, Heo, Moonseong, Lowe, William L., Lowell, Bradford B., Allison, David B., and Leibel, Rudolph L.

Published
1999

39. Analysis of Human Mitochondrial DNA Mutations.

Author

Walker, John M., Potter, Nicholas T., Andreu, Antonio L., MartÍ, Ramon, and Hirano, Michio

Abstract

Mitochondria are the powerhouses of eukaryotic cells. These organelles generate energy in the form of adenosine triphosphate (ATP) from carbohydrates, fats, and proteins, via oxidative phosphorylation. By virtue of possessing their own genetic material—mitochondrial DNA (mtDNA)-mitochondria are unique mammalian organelles. Normal human mtDNA is a 16,569 base-pair (bp), double-stranded, circular molecule (1). The molecules contain tightly compacted genes for 22 transfer (tRNAs), 13 polypeptides, and two ribosomal RNAs (rRNAs) Fig. 1). All 13 polypeptides are subunits of the oxidative phosphorylation system: seven belong to Complex I (NADHCoQ oxidoreductase), one to Complex III (CoQ-cytochrome c oxidoreductase), three to Complex IV (cytochrome c oxidase or COX), and two to Complex V (ATP synthase). These subunits are synthesized within the mitochondrion, where they are assembled together with a larger number of subunits encoded by the nuclear DNA (nDNA), that are synthesized in the cytoplasm and are transported into the mitochondrion (2). Approximately 1,000 mitochondrial polypeptides are encoded in nDNA. Complex II (succinate dehydrogenase-CoQ oxidoreductase), of which succinate dehydrogenase (SDH) is a component, is encoded entirely by nuclear genes; SDH thus serves as a marker for mitochondrial number and activity, independent of the mtDNA. [ABSTRACT FROM AUTHOR]

Published
2003
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40. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

Author

Nishino, Ichizo, primary, Spinazzola, Antonella, additional, Papadimitriou, Alexandros, additional, Hammans, Simon, additional, Steiner, Israel, additional, Hahn, Cecil D., additional, Connolly, Anne M., additional, Verloes, Alain, additional, Guimar�es, Jo�o, additional, Maillard, Ivan, additional, Hamano, Hitoshi, additional, Donati, M. Alice, additional, Semrad, Carol E., additional, Russell, James A., additional, Andreu, Antonio L., additional, Hadjigeorgiou, Giorgos M., additional, Vu, Tuan H., additional, Tadesse, Saba, additional, Nygaard, Torbjoern G., additional, Nonaka, Ikuya, additional, Hirano, Ikuo, additional, Bonilla, Eduardo, additional, Rowland, Lewis P., additional, DiMauro, Salvatore, additional, and Hirano, Michio, additional

Published
2000
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47. Analysis of human mitochondrial DNA mutations.

Author

Andreu AL, Martí R, and Hirano M

Subjects
Base Sequence, DNA, Mitochondrial isolation & purification, Gene Amplification, Genes, Genome, Human, Humans, Indicators and Reagents, MERRF Syndrome genetics, Mitochondria genetics, Mitochondria, Muscle genetics, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, DNA, Mitochondrial genetics, Mutation, Point Mutation
Published
2003
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48. Glycogen Storage Disease Type V

Author

Martín MA, Lucia A, Arenas J, Andreu AL, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, and Amemiya A

Abstract

Clinical Characteristics: Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms are usually precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second-wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary; however, diagnosis is typically delayed as myalgia and fatigability are dismissed/overlooked. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. Approximately 50% of affected individuals have recurrent episodes of myoglobinuria that can – on occasion – eventually result in acute renal failure., Diagnosis/testing: The diagnosis of GSDV is established in a proband with suggestive findings and by identification of biallelic PYGM (encoding glycogen phosphorylase, muscle form) pathogenic variants on molecular genetic testing or – if genetic test results are not diagnostic – by assay of muscle myophosphorylase enzyme activity., Management: Treatment of manifestations: Although no cure for GSDV is available, affected individuals benefit from moderate-intensity aerobic training (e.g., walking or brisk walking, bicycling) to increase cardiorespiratory fitness and muscle oxidative capacity. Pre-exercise ingestion of sports drinks containing simple carbohydrates improves exercise tolerance and may protect against exercise-induced rhabdomyolysis. Surveillance : Annual routine physical examination and review of diet. Agents/circumstances to avoid: To prevent occurrence of cramps and myoglobinuria, avoid intense isometric exercise and maximal aerobic exercise. Evaluation of relatives at risk: When the family-specific PYGM pathogenic variants are known, early detection of GSDV in relatives at risk ensures proper management to prevent muscle injury leading to rhabdomyolysis and to improve long-term outcome, particularly by development of a healthy lifestyle (i.e., regular exercise such as brisk walking) in childhood., Genetic Counseling: GSDV is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Heterozygotes are asymptomatic. Once the pathogenic variants in the family are known, carrier testing for at-risk family members, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible., (Copyright © 1993-2022, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.)

Published
1993

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