Daisy Castiñeiras

Instituto de Investigación Sanitaria de Santiago

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

María L. Couce

Complejo Hospitalario Universitario de Santiago

José M. Fraga

Universidade de Santiago de Compostela

José A. Cocho

Instituto de Investigación Sanitaria de Santiago

M. Dolores Bóveda

Universidade de Santiago de Compostela

Ana Fernández‐Marmiesse

Complejo Hospitalario Universitario de Santiago

Cristóbal Colón

Instituto de Investigación Sanitaria de Santiago

Judit García‐Villoria

Centro de Investigación Biomédica en Red

Fernando J. Corrales

Regional Centre for Biotechnology

Paula Sánchez‐Pintos

Instituto de Investigación Sanitaria de Santiago

Antònia Ribes

Hospital Clínic de Barcelona

Cooperative Institutions

Centre for Biomedical Network Research on Rare Diseases

Complejo Hospitalario Universitario de Santiago

Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red

Instituto de Investigación Sanitaria de Santiago

Instituto de Investigación de Enfermedades Raras

Universidade de Santiago de Compostela

Universitat de Barcelona

Hospital Universitario Son Espases

Hospital Clínic de Barcelona

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

Rapid Communications in Mass Spectrometry (2012)

M. Maira Rebollido‐Fernandez Daisy Castiñeiras M. Dolores Bóveda María L. Couce José A. Cocho

RATIONALE Rapid and specific screening methods to detect abnormal metabolites in biological fluids are important for the diagnosis of many Inborn Errors of Metabolism (IEM). In Galicia (N.W. Spain), where newborn screening (NBS) has long used both blood and urine dried samples, an expanded NBS by tandem mass spectrometry (MS/MS) begun in July 2000 analyzing amino acids and acylcarnitines in blood. The purpose of this study is the development of methods to widen and to complement the present NBS with the study of the selected metabolites in urine. METHODS We studied and optimized the fragmentation of a total of 96 marking compounds of IEM, as well as 34 isotopically labeled internal standards (IS). The isobaric interferences were resolved with the use of alternative fragmentation in 14 of the 28 groups found. The methods were validated for 68 compounds following the recommendations of the NCCLS. RESULTS We have developed electrospray ionization (ESI)‐ MS/MS methods in positive and negative ionization modes to detect selected metabolites in urine. The study was performed by direct injection of amino acids and acylcarnitines in positive mode, and organic acids, acylglycines, purines and pyrimidines in negative mode. Run times were 2.5 and 2.6 min, respectively, allowing the daily analysis of a high number of samples. CONCLUSIONS The validated methods were proved effective for the simultaneous study of a large number of metabolites which are commonly present in urine samples and are used for detecting IEM. The evaluation was done by searching diagnostic profiles with multiple markers to increase sensitivity and specificity (e.g., acylcarnitines plus amino acids) or with specific urine markers (cystine, homogentisic acid, sialic acid, N ‐acetylaspartic acid, etc.). Copyright © 2012 John Wiley & Sons, Ltd.

Extractive electrospray ionization

10.1002/rcm.6325

Cite

Citations (30)

Inicio, evolución y situación actual de los Programas de Cribado Neonatal en España

Revista Española de Salud Pública (2021)

José Luis Marín Soria Jose Manuel González de Aledo Castillo Ana Argudo Ramírez Rosa María López Galera Sonia Pajares García

espanolLos Programas de Cribado Neonatal (PCN) nacen en Espana en Granada en el ano 1968. Posteriormente, y hasta los anos 80, se fueron desarrollando en torno al llamado “Plan Nacional de Prevencion de la Subnormalidad” con una cobertura cercana al 30% de los recien nacidos espanoles. A partir de 1982, con el inicio de la gestion de la sanidad a las comunidades autonomas (CCAA), los PCN se expandieron y se comenzaron a sentar las bases para que estos se convirtieran en una actividad organizada y multidisciplinar, integrados y coordinados desde el Sistema de Salud. A pesar de dicha expansion no es hasta el inicio de la decada de los 90 cuando se consigue una cobertura proxima al 100% de los RN en Espana. Los PCN fueron creciendo de forma muy asimetrica en las diferentes CCAA y en los anos 2005 y 2006 las Sociedades Cientificas SEQC (Sociedad Espanola de Quimica Clinica) y AECNE (Asociacion Espanola de Cribado Neonatal), con la coordinacion del Area de Promocion de la Salud de la Direccion General de Salud Publica, recopilaron la informacion y elaboraron un informe, sobre los PCN en Espana para el Consejo Interterritorial del sistema Nacional de Salud (CISNS). En julio de 2013 este Consejo aprobo las siete enfermedades que debian formar parte del panel de deteccion de los PCN territoriales, primer paso hacia la armonizacion de estos programas. Actualmente, los PCN incluyen entre 8 y 29 enfermedades por lo que es necesario seguir trabajando para conseguir una mayor uniformidad. EnglishNewborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called “National Plan for Preventing Subnormality”, covering up to 30% of the Spanish newborns. From 1982, when the health system management was transferred to the different autonomous regions, the NSP began to expand, and the bases to transform them into an organized and multidisciplinary activity, integrated and coordinated from the National Health System were settled. Despite this expansion, it is not until the 1990s when their coverage reaches almost 100% newborns in Spain. NSP grew up asymmetrically across the different autonomous regions. In 2005 and 2006 the scientific societies SEQC (Spanish Society of Clinical Chemistry) and AECNE (Spanish Society of Newborn Screening), coordinated by the Health Promotion Area of the General Directorate of Public Health, gathered together the necessary information to elaborate a report on the NSP in Spain addressed to the Interterritorial Council of the National Health System. In July 2013, that Council approved the seven diseases that should be part of each region newborn screening panel, being the first step towards the NSP harmonization in Spain. Currently, the NSP include between 8 and 29 diseases in their panels, thus more still more efforts are needed in order to achieve a higher uniformity.

Source

Cite

Citations (0)

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia

JIMD Reports (2014)

Hugo Rocha Daisy Castiñeiras Carmen Delgado José Manuel Egea Raquel Yahyaoui

Mitochondrial fatty acid β-oxidation disorders (FAOD) are main targets for newborn screening (NBS) programs, which are excellent data sources for accurate estimations of disease birth prevalence. Epidemiological data is of key importance for the understanding of the natural history of the disorders as well as to define more effective public health strategies. In order to estimate FAOD birth prevalence in Iberia, the authors collected data from six NBS programs from Portugal and Spain, encompassing the screening of more than 1.6 million newborns by tandem mass spectrometry (MS/MS), and compared it with available data from other populations. The participating NBS programs are responsible for the screening of about 46% of all Iberian newborns. Data reveals that Iberia has one of the highest FAOD prevalence in Europe (1:7,914) and that Portugal has the highest birth prevalence of FAOD reported so far (1:6,351), strongly influenced by the high prevalence of medium-chain acyl-CoA dehydrogenase deficiency (MCADD; 1:8,380), one of the highest ever reported. This is justified by the fact that more than 90% of Portuguese MCADD patients are of Gypsy origin, a community characterized by a high degree of consanguinity. From the comparative analysis of various populations with comparable data other differences emerge, which points to the existence of significant variations in FAOD prevalences among different populations, but without any clear European variation pattern. Considering that FAOD are one of the justifications for MS/MS NBS, the now estimated birth prevalences stress the need to screen all Iberian newborns for this group of inherited metabolic disorders.

10.1007/8904_2014_324

Cite

Citations (21)

Deficiencia de biotinidasa: importancia de su diagnóstico neonatal y tratamiento precoz

Anales de Pediatría (1999)

M Picó Federico Martinón‐Torres Daisy Castiñeiras J.R. Alonso Fernández José M. Fraga

Source

Cite

Citations (3)

Aplicación de la espectrometría de masas en tándem a la determinación de aminoácidos, acilcarnitinas y otros metabolitos y su interrelación con los errores congénitos del metabolismo

Daisy Castiñeiras

Se desarrollo un metodo de analisis por Espectrometria de Masas en Tandem con ionizacion por electroespray (ESI-MS/MS) para la medida de aminoacidos, acilcarnitinas, acidos organicos y acilglicinas en las muestras de orina impregnadas en papel. Esta metodologia es util para complementar la informacion obtenida a traves de las muestras de sangre impregnada en papel del cribado neonatal ampliado, facilitando el preciso diagnostico diferencial de los errores congenitos de metabolismo (ECM) y permitiendo ampliar la deteccion a enfermedades que no se expresan en sangre. En la actualidad en nuestro programa de cribado neonatal es utilizado como prueba de segundo nivel con el fin de disminuir la repeticion de toma de muestras. Asi mismo se desarrollo un metodo por ESI-MS/MS para la determinacion de EDTA en las muestras de sangre impregnadas en papel, con el fin de evitar los falsos negativos de hipotiroidismo congenito que puede provocar este anticoagulante debido a las interferencias que produce sobre la medida de TSH por metodos inmunometricos. Se presenta la informacion sobre la deteccion, confirmacion y seguimiento de los errores congenitos del metabolismo detectados desde la implantacion de la MS/MS en nuestro laboratorio desde junio del ano 2000, haciendo hincapie en los defectos de la β-oxidacion de los acidos grasos y en especial en la deficiencia mas frecuente, la deficiencia de acil CoA deshidrogenasa de cadena media (MCADD), en la aciduria glutarica tipo I y en las hipermetioninemias, que se han implementado por los metodos desarrollados. Todo ello, en su conjunto, pone en valor la importancia de los cribados ampliados y su utilidad para la instauracion precoz de medidas terapeuticas que permiten evitar los danos irreversibles. Tambien favorece el conocimiento de la historia natural y prevalencia de estos ECM y la consiguiente influencia en la evolucion de estos pacientes tanto en terminos de morbilidad, como de mortalidad.

Source

Cite

Citations (0)

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

Orphanet Journal of Rare Diseases (2024)

María L. Couce María-Dolores Bóveda Daisy Castiñeiras María-Eugenia Vázquez-Mosquera Sofía Gouveia

Abstract Background There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass spectrometry (July 2000). This programme currently screens for 26 IEMs in dried blood and urine samples collected 24–72 h after birth. Results In its 22-year history, this programme has analysed samples from 440,723 neonates and identified 326 cases of IEM with a prevalence of 1:1351. The most prevalent IEMs were hyperphenylalaninaemia ( n = 118), followed by medium chain acyl-CoA dehydrogenase deficiency (MCADD, n = 26), galactosaemia ( n = 20), and cystinurias ( n = 43). Sixty-one false positives and 18 conditions related to maternal pathologies were detected. Urine samples have been identified as a useful secondary sample to reduce the rate of false positives and identify new defects. There were 5 false negatives. The overall positive value was 84.23%. The fatality rate over a median of 12.1 years of follow-up was 2.76%. The intelligence quotient of patients was normal in 95.7% of cases, and school performance was largely optimal, with pedagogic special needs assistance required in < 10% of cases. Clinical onset of disease preceded diagnosis in 4% of cases. The age at which first NBS report is performed was reduced by 4 days since 2021. Conclusions This study highlights the benefits of collecting urine samples, reduce NBS reporting time and expanding the number of IEMs included in NBS programmes.

Case fatality rate

Dried blood spot

10.1186/s13023-024-03204-y

Cite

Citations (1)

Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

European Journal of Paediatric Neurology (2013)

María L. Couce Olalla López-Suárez Ma Dolores Bóveda Daisy Castiñeiras José A. Cocho

Macrocephaly

10.1016/j.ejpn.2013.01.003

Cite

Citations (55)