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Your search keyword '"Mónica Martínez-Gallo"' showing total 3 results
Start Over Author "Mónica Martínez-Gallo" Journal international journal of neonatal screening
3 results on '"Mónica Martínez-Gallo"'

1. Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

Author

Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez-Gallo, Roger Colobran, Ana Argudo-Ramírez, Jose Luis Marín-Soria, Judit García-Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, and Pere Soler-Palacín

Subjects
purine nucleoside phosphorylase deficiency, severe combined immunodeficiency, newborn screening, T-cell receptor excision circle, Pediatrics, RJ1-570
Abstract

Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis.

Published
2021
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2. Newborn Screening for SCID: Experience in Spain (Catalonia)

Author

Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria, and Pere Soler-Palacín

Subjects
newborn screening, severe combined immunodeficiency, T-cell receptor excision circles, T-lymphocytes, stem cell transplantation, PNP deficiency, Pediatrics, RJ1-570
Abstract

Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Seville in 2014; also, a research project with about 35,000 newborns will be carried out in 2021–2022 in the NBS laboratory of Eastern Andalusia. At present, the inclusion of SCID is being evaluated in Spain. The results obtained in the first three and a half years of experience in Catalonia are presented here. All babies born between January-2017 and June-2020 were screened through TREC-quantification in DBS with the Enlite Neonatal TREC-kit from PerkinElmer. A total of 222,857 newborns were screened, of which 48 tested positive. During the study period, three patients were diagnosed with SCID: an incidence of 1 in 74,187 newborns; 17 patients had clinically significant T-cell lymphopenia (non-SCID) with an incidence of 1 in 13,109 newborns who also benefited from the NBS program. The results obtained provide further evidence of the benefits of early diagnosis and curative treatment to justify the inclusion of this disease in NBS programs. A national NBS program is needed, also to define the exact SCID incidence in Spain.

Published
2021
Full Text
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3. Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

Author

Ana Argudo-Ramírez, Giancarlo la Marca, Jacques G. Rivière, Judit García-Villoria, Jose Antonio Arranz-Amo, Jose Luis Marín-Soria, Laura C. Alonso, Roger Colobran, Mireia Català-Besa, Pere Soler-Palacín, Alba Parra-Martínez, Marina Garcia-Prat, Andrea Martín-Nalda, Mónica Martínez-Gallo, Institut Català de la Salut, [Martín-Nalda A, Rivière JG, Català-Besa M, García-Prat M, Parra-Martínez A, Soler-Palacín P] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Martínez-Gallo M] Divisió d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, 08035 Barcelona, Spain. Grup de Recerca en Immunologia Diagnòstica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Biologia Cel•lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Colobran R] Divisió d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, 08035 Barcelona, Spain. Grup de Recerca en Immunologia Diagnòstica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Biologia Cel•lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Genètica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Alonso L] Servei d’Oncologia i Hematologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Arranz-Amo JA] Laboratori de Malalties Metabòliques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
inorganic chemicals, Otros calificadores::/diagnóstico [Otros calificadores], Other subheadings::Other subheadings::Other subheadings::/deficiency [Other subheadings], Purine nucleoside phosphorylase, Case Report, Pediatrics, RJ1-570, Immunology and Microbiology (miscellaneous), Liquid chromatography–mass spectrometry, Cribatge (Medicina), Other subheadings::/diagnosis [Other subheadings], medicine, Infants nadons, heterocyclic compounds, T-cell receptor excision circle, Severe combined immunodeficiency, Newborn screening, Chemistry, T-cell receptor excision circles, newborn screening, Obstetrics and Gynecology, Purine nucleoside phosphorylase deficiency, severe combined immunodeficiency, medicine.disease, Molecular biology, purine nucleoside phosphorylase deficiency, enfermedades del sistema inmune::síndromes de inmunodeficiencia [ENFERMEDADES], enzymes and coenzymes (carbohydrates), enzimas y coenzimas::enzimas::transferasas::glicosiltransferasas::pentosiltransferasas::purina-nucleósido fosforilasa [COMPUESTOS QUÍMICOS Y DROGAS], Síndromes de deficiència immunitària - Diagnòstic, PNP Deficiency, Immune System Diseases::Immunologic Deficiency Syndromes [DISEASES], Pediatrics, Perinatology and Child Health, Otros calificadores::Otros calificadores::Otros calificadores::/deficiencia [Otros calificadores], Enzymes and Coenzymes::Enzymes::Transferases::Glycosyltransferases::Pentosyltransferases::Purine-Nucleoside Phosphorylase [CHEMICALS AND DRUGS]
Abstract

Newborn screening; Severe combined immunodeficiency Cribatge nounat; Immunodeficiència combinada severa Cribado neonato; Inmunodeficiencia combinada grave Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis. This research was funded by Jeffrey Modell Foundation.

Published
2021

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