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Your search keyword '"Milà, M."' showing total 403 results
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403 results on '"Milà, M."'

5. Changes in influenza and other respiratory virus activity during the COVID-19 pandemic—United States, 2020–2021

Author

Olsen, Sonja J., Winn, Amber K., Budd, Alicia P., Prill, Mila M., Steel, John, Midgley, Claire M., Kniss, Krista, Burns, Erin, Rowe, Thomas, Foust, Angela, Jasso, Gabriela, Merced-Morales, Angiezel, Davis, C. Todd, Jang, Yunho, Jones, Joyce, Daly, Peter, Gubareva, Larisa, Barnes, John, Kondor, Rebecca, Sessions, Wendy, Smith, Catherine, Wentworth, David E., Garg, Shikha, Havers, Fiona P., Fry, Alicia M., Hall, Aron J., Brammer, Lynnette, and Silk, Benjamin J.

Published
2021
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13. Respiratory Syncytial Virus Infection in Guatemala, 2007-2012

Author

McCracken, John P., Prill, Mila M., Arvelo, Wences, Lindblade, Kim A., López, Maria R., Estevez, Alejandra, Müller, Maria L., Muñoz, Fredy, Bernart, Christopher, Cortez, Margarita, Moir, Juan C., Ortíz, Jose, Paredes, Antonio, and Iwane, Marika K.

Published
2013

20. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Author

Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, and Beltran S

Abstract

Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7% ), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%).

Published
2022

25. Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result

Author

Rodriguez-Revenga L, Madrigal I, Borrell A, Martinez JM, Sabria-Bach J, Martin L, Jimenez W, AUREA MIRA VALLET, Badenas C, and Milà M

Subjects
low-risk pregnancy, diagnostic yield, prenatal, chromosomal microarray, copy number variant, humanities, health care economics and organizations
Abstract

Chromosomal microarray analysis (CMA) has now replaced karyotyping in the analysis of prenatal cases with a fetal structural anomaly, whereas in those pregnancies undergoing invasive prenatal diagnosis with a normal fetal ultrasound, conventional karyotyping is still performed. The aims of this study were to establish the diagnostic yield of CMA in prenatal diagnosis, and to provide new data that might contribute to reconsider current practices. We reviewed 2905 prenatal samples with a normal rapid aneuploidy detection test referred for evaluation by CMA testing. Our study revealed pathogenic and reported susceptibility copy number variants associated with syndromic disorders in 4.8% (n = 138/2905) of cases, being 2.8% (n = 81/2905) the estimated added diagnostic value of CMA over karyotyping. Clinically significant CMA abnormality was detected in 5.4% (107/1975) of the fetuses with ultrasound anomalies and in 1.4% (5/345) of those considered as low-risk pregnancies. Our series shows that in prenatal samples, CMA increases 2-fold the diagnostic yield achieved by conventional karyotyping.

Published
2020

26. Valoració de l'aprenentatge de química orgànica i química farmacèutica a l'itinerari curricular del grau de farmàcia (UB)

Author

Zulaica Gallego, Ester, Amat Tusón, Mercedes, Diez Pascual, Anna, Dinarès Milà, M. Immaculada, Griera Farres, Rosa, Llor Brunés, Núria, and Quirante Serrano, Josefina

Subjects
Educació superior, Farmàcia, Organic chemistry, Química farmacèutica, Higher education, Pharmacy, Química orgànica, Pharmaceutical chemistry
Abstract

This work looks at how basic knowledge of Organic Chemistry acquired in the initial stages of the Pharmacy degree is consolidated for its later application. Tests were conducted among first-, second- and third-year students enrolled, respectively, in the subjects Organic Chemistry, Pharmaceutical Chemistry, and Experimentation in Organic and Medicinal Chemistry, comprising questions on the chemistry knowledge considered to be most fundamental, such as aspects of stereochemistry, acidity and basicity, salt formation, and molecular interaction processes at the physiological level. The tests were conducted in the academic years from 2016-2017 to 2018-2019, so that answers from the same group of students could be collected at different stages of the degree. This allowed us to assess which knowledge students typically consolidated and maintained over two to three academic years, as well as that which proved more difficult to retain. The data obtained also provided some information on the students' capacities for knowledge integration. Keywords: knowledge, organic chemistry, pharmaceutical chemistry, knowledge integration.

Published
2020

49. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Author

Martínez F, Sánchez A, Badenas C, Rodriguez B, Armengol L, González E, Rodríguez-Revenga L, Madrigal I, Guitart M, Fernández-Carvajal I, Arranz JA, Tejada MI, Pérez-Jurado LA, Estivill X, and Milà M

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%). Conclusion This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.

Published
2007
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