182 results on '"Blasco-Alonso, Javier"'
Search Results
2. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
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Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., 2nd, Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta, Wagenmakers, Margreet, Wijburg, Frits A., Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, and Zielonka, Matthias
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- 2024
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3. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain
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Calzada-Hernández, Joan, Anton, Jordi, Martín de Carpi, Javier, López-Montesinos, Berta, Calvo, Inmaculada, Donat, Ester, Núñez, Esmeralda, Blasco Alonso, Javier, Mellado, María José, Baquero-Artigao, Fernando, Leis, Rosaura, Vegas-Álvarez, Ana María, Medrano San Ildefonso, Marta, Pinedo-Gago, María del Carmen, Eizaguirre, Francisco Javier, Tagarro, Alfredo, Camacho-Lovillo, Marisol, Pérez-Gorricho, Beatriz, Gavilán-Martín, César, Guillén, Sara, Sevilla-Pérez, Belén, Peña-Quintana, Luis, Mesa-Del-Castillo, Pablo, Fortuny, Clàudia, Tebruegge, Marc, and Noguera-Julian, Antoni
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- 2023
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4. Transcultural adaptation and validation of IMPACT-III and IMPACT-III-P in Spanish families: a multicenter study from SEGHNP
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Velasco Rodríguez-Belvís, Marta, primary, Palomino, Laura, additional, Pujol-Muncunill, Gemma, additional, Martin-Masot, Rafael, additional, Medina Benítez, Enrique, additional, Fernández-Lorenzo, Ana Estefanía, additional, Moreno-Álvarez, Ana, additional, Molina Arias, Manuel, additional, Hidalgo Montes, Inmaculada, additional, Barrio Torres, Josefa, additional, Navas-López, Víctor Manuel, additional, Martín de Carpi, Javier, additional, Lozano Ruf, Ana, additional, Blasco-Alonso, Javier, additional, Montraveta, Montserrat, additional, Peña-Quintana, Luis, additional, Ramos Rueda, Natalia, additional, Rodríguez Martínez, Alejandro, additional, Botija Arcos, Gonzalo, additional, Alonso Vicente, Carmen, additional, Castro Millán, Ana María, additional, Donat, Ester, additional, Fernández Cebrián, Santiago, additional, Sánchez Sánchez, César, additional, Loverdos, Inés, additional, Segarra Cantón, Oscar, additional, Ruiz Castellano, Noelia, additional, Torres-Peral, Ricardo, additional, Crehuá-Gaudiza, Elena, additional, Millán Jiménez, Antonio, additional, Jovani Casano, Carmen, additional, Vicente Santamaría, Saioa, additional, Tabares González, Ana, additional, Garcia-Romero, Ruth, additional, Ros Arnal, Ignacio, additional, Balboa Vega, María Jesús, additional, Escartín Madurga, Laura, additional, Martinón Torres, Nazareth, additional, Crujeiras Martínez, Vanesa, additional, González-Vives, Leticia, additional, Pérez-Moneo, Begoña, additional, Masiques Mas, María Llüisa, additional, Vegas Álvarez, Ana María, additional, Grande Herrero, Luis, additional, La Orden Izquierdo, Enrique, additional, Chicano Marín, Francisco José, additional, de las Mercedes Busto Cuiñas, María, additional, Martínez de Zabarte Fernández, José Miguel, additional, Alberto Alonso, José Ramón, additional, and Andrés Esteban, Eva María, additional
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- 2024
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5. Impact of pediatric inflammatory bowel disease on caregivers' work productivity: A multicenter study by the SEGHNP.
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Velasco Rodríguez‐Belvís, Marta, Palomino, Laura, Pujol Muncunill, Gemma, Martin‐Masot, Rafael, Muñoz Codoceo, Rosa Ana, Barrio Torres, Josefa, Navas‐López, Víctor Manuel, Martín de Carpi, Javier, Benítez, Enrique Medina, Fernández‐Lorenzo, Ana Estefanía, Moreno‐Álvarez, Ana, Arias, Manuel Molina, Montes, Inmaculada Hidalgo, Ruf, Ana Lozano, Blasco‐Alonso, Javier, Montraveta, Montserrat, Peña‐Quintana, Luis, Rueda, Natalia Ramos, Martínez, Alejandro Rodríguez, and Arcos, Gonzalo Botija
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- 2024
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6. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
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Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Wagenmakers, Margreet, Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias, Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, and Wagenmakers, Margreet
- Abstract
Purpose: Liver transplantation (LTx) is performed in individuals with urea cycle disorders when medical management (MM) insufficiently prevents the occurrence of hyperammonemic events. However, there is a paucity of systematic analyses on the effects of LTx on health-related outcome parameters compared to individuals with comparable severity who are medically managed. Methods: We investigated the effects of LTx and MM on validated health-related outcome parameters, including the metabolic disease course, linear growth, and neurocognitive outcomes. Individuals were stratified into “severe” and “attenuated” categories based on the genotype-specific and validated in vitro enzyme activity. Results: LTx enabled metabolic stability by prevention of further hyperammonemic events after transplantation and was associated with a more favorable growth outcome compared with individuals remaining under MM. However, neurocognitive outcome in individuals with LTx did not differ from the medically managed counterparts as reflected by the frequency of motor abnormality and cognitive standard deviation score at last observation. Conclusion: Whereas LTx enabled metabolic stability without further need of protein restriction or nitrogen-scavenging therapy and was associated with a more favorable growth outcome, LTx—as currently performed—was not associated with improved neurocognitive outcomes compared with long-term MM in the investigated urea cycle disorders.
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- 2024
7. Laboratory determination of thiopurine levels in paediatric patients with inflammatory bowel disease
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Martín-Masot, Rafael, Ortiz Pérez, María Pilar, Ramos Rueda, Natalia, Serrano Nieto, Juliana, Blasco-Alonso, Javier, and Navas-López, Víctor Manuel
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- 2020
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8. Análisis de la determinación de niveles de tiopurínicos en pacientes pediátricos con enfermedad inflamatoria intestinal
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Martín-Masot, Rafael, Ortiz Pérez, María Pilar, Ramos Rueda, Natalia, Serrano Nieto, Juliana, Blasco-Alonso, Javier, and Navas-López, Víctor Manuel
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- 2020
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9. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
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Quijada-Fraile, Pilar, Arranz Canales, Elena, Martín-Hernández, Elena, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna, Pintos-Morell, Guillem, Moltó-Abad, Marc, Moreno-Martínez, David, García Morillo, Salvador, Blasco-Alonso, Javier, Couce, María Luz, Gil Sánchez, Ricardo, Cortès-Saladelafont, Elisenda, López Rodríguez, Mónica A., García-Silva, María Teresa, and Morales Conejo, Montserrat
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- 2021
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10. Sirolimus for the Treatment of Juvenile Polyposis in Childhood
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Martín-Masot, Rafael, Cardelo Autero, Nerea, Ortiz Pérez, Pilar, Torcuato Rubio, Encarnación, Vázquez Pedreño, Luis, Gallego Fernández, Carmen, Blasco-Alonso, Javier, and Navas-López, Víctor Manuel
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- 2021
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11. Neopterin levels and systemic inflammatory response syndrome in pediatric critically ill patients
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Gil-Gómez, Raquel, Blasco-Alonso, Javier, Sánchez-Yáñez, Pilar, Rosa-Camacho, Vanessa, and Milano, Guillermo
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- 2017
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12. Niveles de neopterina y síndrome de respuesta inflamatoria sistémica en pacientes críticos pediátricos
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Gil-Gómez, Raquel, Blasco-Alonso, Javier, Sánchez-Yáñez, Pilar, Rosa-Camacho, Vanessa, and Milano Manso, Guillermo
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- 2017
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13. Psychometric evaluation of the Spanish version of the Pediatric Quality of Life Eosinophilic Esophagitis Questionnaire (Peds QL-EoE Module ™).
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Garcia – Martinez de Bartolomé, Ruth, Barrio-Torres, Josefa, Cilleruelo- Pascual, MLuz, Rodríguez-Soler, Juan José, Gil-de Miguel, Ángel, Sebastián-Viana, Tomás, the Spanish Study Group of Children's Eosinophilic Esophagitis Quality of Life, Vila-Miravet, Víctor, La Orden-Izquierdo, Enrique, Fernández-Fernández, Sonia, Herrero-Álvarez, Myriam, Soria-López, Marta, Botija-Arcos, Gonzalo, Rodríguez-Martínez, Alejandro, Galicia-Poblet, Gonzalo, García-Díaz, Alejandro, Herreros-Sáenz, Marta, Blasco-Alonso, Javier, Rodrigo-García, Gloria, and Alonso-Pérez, Natalia
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EOSINOPHILIC esophagitis ,QUALITY of life ,PSYCHOMETRICS ,CRONBACH'S alpha ,EXPLORATORY factor analysis - Abstract
Background: The Paediatric Eosinophilic Oesophagitis Module (PedsQL-EoE) was developed in English as a valid and reliable questionnaire to assess health-related quality of life (HRQoL) in children with EoE. The aim of this study was to evaluate the validity and reliability of the PedsQL-EoE that was previously adapted to Spanish by our group. Methods: This cross-sectional multicentre study was conducted in 36 paediatric gastroenterology units. Groups with and without dietary restrictions were studied separately. The PedsQL-EoE consists of 33 items divided into seven factors. Age-specific versions of the PedsQL-EoE were sent by e-mail to children and parents. Statistical analysis was used to study the questionnaire structure by means of exploratory factor analysis and interitem correlations. Confirmatory factor analysis (CFA) was applied to verify the proposed model as well as its psychometric properties through SMSR (standardized root mean square), outer loadings and R-square. To study construct validity and reliability, Cronbach´s alpha coefficient, convergent validity (AVE), discriminant validity (HTMT) and intraclass correlation coefficients (ICC) were used. Results: A total of 341 children and 394 parents participated with 307 matched answers. The median age was 12 years, and 75% were male. The questionnaire structure explained 68% and 66% of the total variance for parents and children, respectively. Five items showed negative correlations and were removed from the questionnaire. CFA applied to the new model supported the following construct: SMRS was less than 0.08, outer loadings measured above 0.5, and R
2 explained more than 89% of the total variance. Once the modifications were performed, good internal consistency was demonstrated, with Cronbach's alpha values > 0.7, AVE values > 0.5 and HTMT < 0.9 with good child/parent agreement (ICC = 0.80). The most robust model of the PedsQL-EoE module was formed by seven factors: Symptoms I (6 items), Symptoms II (4 items), Treatment (4 items), Worries (3 items), Communication (5 items), Food and Eating (3 items) and Food Feelings (3 items). Conclusions: The final PedsQL-EoE Module version, after the removal of five items, is a valid and reliable tool to be used in children with EoE. The Spanish validated version appears to be a useful instrument for measuring the impact of EoE on Spanish children´s quality of life. [ABSTRACT FROM AUTHOR]- Published
- 2023
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14. Food Protein-Induced Enterocolitis Syndrome: Data from a Multicenter Retrospective Study in Spain
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Díaz, Juan J., Espín, Beatriz, Segarra, Oscar, Domínguez-Ortega, Gloria, Blasco-Alonso, Javier, Cano, Beatriz, Rayo, Ana, and Moreno, Ana
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- 2018
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15. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain
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Calzada-Hernández, Joan, primary, Anton, Jordi, additional, Martín de Carpi, Javier, additional, López-Montesinos, Berta, additional, Calvo, Inmaculada, additional, Donat, Ester, additional, Núñez, Esmeralda, additional, Blasco Alonso, Javier, additional, Mellado, María José, additional, Baquero-Artigao, Fernando, additional, Leis, Rosaura, additional, Vegas-Álvarez, Ana María, additional, Medrano San Ildefonso, Marta, additional, Pinedo-Gago, María del Carmen, additional, Eizaguirre, Francisco Javier, additional, Tagarro, Alfredo, additional, Camacho-Lovillo, Marisol, additional, Pérez-Gorricho, Beatriz, additional, Gavilán-Martín, César, additional, Guillén, Sara, additional, Sevilla-Pérez, Belén, additional, Peña-Quintana, Luis, additional, Mesa-Del-Castillo, Pablo, additional, Fortuny, Clàudia, additional, Tebruegge, Marc, additional, and Noguera-Julian, Antoni, additional
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- 2022
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16. Crohn’s disease in a patient with systemic onset juvenile idiopathic arthritis. Association or associated side effect of treatment?
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Martín Pedraz, Laura, primary, Galindo Zavala, Rocío, additional, Blasco Alonso, Javier, additional, Navas López, Víctor Manuel, additional, and Núñez Cuadros, Esmeralda, additional
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- 2022
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17. Enfermedad de Crohn en paciente con artritis idiopática juvenil de inicio sistémico: ¿asociación o complicación asociada al tratamiento?
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Martín Pedraz, Laura, primary, Galindo Zavala, Rocío, additional, Blasco Alonso, Javier, additional, Navas López, Víctor Manuel, additional, and Núñez Cuadros, Esmeralda, additional
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- 2022
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18. Correction to: Transcultural adaptation and validation of IMPACT-III and IMPACT-III-P in Spanish families: a multicenter study from SEGHNP.
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Rodríguez-Belvís, Marta Velasco, Palomino, Laura, Pujol-Muncunill, Gemma, Martin-Masot, Rafael, Benítez, Enrique Medina, Fernández-Lorenzo, Ana Estefanía, Moreno-Álvarez, Ana, Arias, Manuel Molina, Montes, Inmaculada Hidalgo, Torres, Josefa Barrio, Navas-López, Víctor Manuel, de Carpi, Javier Martín, Ruf, Ana Lozano, Blasco-Alonso, Javier, Montraveta, Montserrat, Peña-Quintana, Luis, Rueda, Natalia Ramos, Martínez, Alejandro Rodríguez, Arcos, Gonzalo Botija, and Vicente, Carmen Alonso
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INFLAMMATORY bowel diseases - Abstract
This document is a correction notice for an article published in the European Journal of Pediatrics. The correction provides the correct list of authors for the article titled "Transcultural adaptation and validation of IMPACT-III and IMPACT-III-P in Spanish families: a multicenter study from SEGHNP." The correction states that Víctor Manuel Navas-López and Javier Martín de Carpi contributed equally to the work and share senior authorship. The correction also acknowledges the Inflammatory Bowel Disease Working Group of SEGHNP for their involvement in the project. The document includes the corrected list of authors and their affiliations. [Extracted from the article]
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- 2024
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19. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
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Martín-Hernández, Elena, primary, Quijada-Fraile, Pilar, additional, Correcher, Patricia, additional, Meavilla, Silvia, additional, Sánchez-Pintos, Paula, additional, de las Heras Montero, Javier, additional, Blasco-Alonso, Javier, additional, Dougherty, Lucy, additional, Marquez, Ana, additional, Peña-Quintana, Luis, additional, Cañedo, Elvira, additional, García-Jimenez, María Concepción, additional, Moreno Lozano, Pedro Juan, additional, Murray Hurtado, Mercedes, additional, Camprodon Gómez, María, additional, Barrio-Carreras, Delia, additional, de los Santos, Mariela, additional, del Toro, Mireia, additional, Couce, María L., additional, Vitoria Miñana, Isidro, additional, Morales Conejo, Montserrat, additional, and Bellusci, Marcello, additional
- Published
- 2022
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20. Estudio de la agregación plaquetaria en el postoperatorio de cirugía cardiovascular mediante circulación extracorpórea en edad pediátrica
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Gil-Gómez, Raquel, Blasco-Alonso, Javier, González-Correa, José Antonio, de la Cruz, José Pedro, Reyes, José Julio, and Milano, Guillermo
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- 2014
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21. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
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Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, and Burgard, Peter
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- 2015
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22. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
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Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., and Garcia Cazorla, Angeles
- Published
- 2015
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23. Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia
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Universidad de Sevilla. Departamento de Medicina, Dios-Fuentes, Elena, Gonzalo Marín, Montserrat, Remón-Ruiz, Pablo, Benitez Ávila, Rosa, Bueno Delgado, María del Amor, Blasco Alonso, Javier, Doulatram Gamgaram, Viyei Kishore, Oliveria, Gabriel, Soto Moreno, Alfonso Manuel, Venegas Moreno, Eva, Universidad de Sevilla. Departamento de Medicina, Dios-Fuentes, Elena, Gonzalo Marín, Montserrat, Remón-Ruiz, Pablo, Benitez Ávila, Rosa, Bueno Delgado, María del Amor, Blasco Alonso, Javier, Doulatram Gamgaram, Viyei Kishore, Oliveria, Gabriel, Soto Moreno, Alfonso Manuel, and Venegas Moreno, Eva
- Abstract
The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU). This has led to the development of multidisciplinary treatment units for adult patients with PKU. We present a retrospective descriptive study of a cohort of 90 adult patients (>16 years) with PKU under active follow-up in two reference centers in Andalusia. We analyzed disease severity, treatment type, demographic variables, cardiovascular risk factors, vitamin and hormone profiles, and bone metabolism. The median (interquartile range)age was 29 (23–38) years, 47 (52.2%) were women and 43 (47.8%) were men. Eighty (88.9%) had classical PKU, five (5.6%) moderate PKU, and five (5.6%) mild PKU. Diagnosis was by neonatal screening in 62 (68.9%) of the patients. The rest had late diagnosis. Treatment with sapropterin was given to 18 (20%) patients and diet and nutrition therapy to 72 (80%). There was adequate metabolic control according to Phe levels in 43 (47.78%) patients. Body mass index was 26.61 (22.7–31.1) kg/m2. Twenty-six (29.2%) patients had obesity, 7 (7.9%) hypertension, 2 (2.2%) type 2 diabetes, 26 (28.89%) dyslipidemia, 14 (15.6%) elevated total cholesterol, 9 (15.8%) decreased high-density lipoprotein cholesterol and 16 (17.8%) hypertriglyceridemia. Seven (10.3%) patients had osteoporosis and 28 (41.17%) osteopenia. Twenty-six (30.6%) had vitamin D (25OH) deficiency and four (4.5%) vitamin B12 deficiency. Although we observed no differences with most vascular risk factors, we found a high prevalence of obesity in relation to the age of the cohort. A continued evaluation of comorbidities in these patients is therefore needed, despite adequate metabolic control.
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- 2022
24. Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia
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Dios Fuentes, Elena, Gonzalo Marín, Montserrat, Remón-Ruiz, Pablo, Benitez Ávila, Rosa, Bueno Delgado, María A., Blasco Alonso, Javier, Doulatram Gamgaram, Viyei Kishore, Olveira Fuster, Gabriel, Soto-Moreno, Alfonso, Venegas Moreno, Eva, Dios Fuentes, Elena, Gonzalo Marín, Montserrat, Remón-Ruiz, Pablo, Benitez Ávila, Rosa, Bueno Delgado, María A., Blasco Alonso, Javier, Doulatram Gamgaram, Viyei Kishore, Olveira Fuster, Gabriel, Soto-Moreno, Alfonso, and Venegas Moreno, Eva
- Abstract
The establishment of national neonatal screening systems has resulted in improved quality of life and life expectancy in patients with phenylketonuria (PKU). This has led to the development of multidisciplinary treatment units for adult patients with PKU. We present a retrospective descriptive study of a cohort of 90 adult patients (>16 years) with PKU under active follow-up in two reference centers in Andalusia. We analyzed disease severity, treatment type, demographic variables, cardiovascular risk factors, vitamin and hormone profiles, and bone metabolism. The median (interquartile range)age was 29 (23−38) years, 47 (52.2%) were women and 43 (47.8%) were men. Eighty (88.9%) had classical PKU, five (5.6%) moderate PKU, and five (5.6%) mild PKU. Diagnosis was by neonatal screening in 62 (68.9%) of the patients. The rest had late diagnosis. Treatment with sapropterin was given to 18 (20%) patients and diet and nutrition therapy to 72 (80%). There was adequate metabolic control according to Phe levels in 43 (47.78%) patients. Body mass index was 26.61 (22.7−31.1) kg/m2. Twenty-six (29.2%) patients had obesity, 7 (7.9%) hypertension, 2 (2.2%) type 2 diabetes, 26 (28.89%) dyslipidemia, 14 (15.6%) elevated total cholesterol, 9 (15.8%) decreased high-density lipoprotein cholesterol and 16 (17.8%) hypertriglyceridemia. Seven (10.3%) patients had osteoporosis and 28 (41.17%) osteopenia. Twenty-six (30.6%) had vitamin D (25OH) deficiency and four (4.5%) vitamin B12 deficiency. Although we observed no differences with most vascular risk factors, we found a high prevalence of obesity in relation to the age of the cohort. A continued evaluation of comorbidities in these patients is therefore needed, despite adequate metabolic control.
- Published
- 2022
25. Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia
- Author
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Dios-Fuentes, Elena, primary, Gonzalo Marin, Montserrat, additional, Remón-Ruiz, Pablo, additional, Benitez Avila, Rosa, additional, Bueno Delgado, Maria A, additional, Blasco Alonso, Javier, additional, Doulatram Gamgaram, Viyei Kishore, additional, Olveira, Gabriel, additional, Soto-Moreno, Alfonso, additional, and Venegas-Moreno, Eva, additional
- Published
- 2022
- Full Text
- View/download PDF
26. Successful treatment for ulcerative proctitis with rectal tacrolimus in an 8-year-old girl with intolerance to mesalamine
- Author
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Navas-López, Víctor Manuel, Blasco-Alonso, Javier, Girón Fernández-Crehuet, Francisco, Serrano Nieto, Maria Juliana, Gallego-Gutiérrez, Silvia, Luque Pérez, Silvia, and Sierra Salinas, Carlos
- Published
- 2014
- Full Text
- View/download PDF
27. Immunomodulation for Pompe Disease with high sustained antibodies against enzyme replacement therapy
- Author
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Blasco-Alonso, Javier, primary, Gil-Gómez, Raquel, additional, Jurado, Alfonso Lendínez, additional, and Macías, Raquel Yahyaoui, additional
- Published
- 2021
- Full Text
- View/download PDF
28. Food Protein-induced Enterocolitis Syndrome: Data From a Multicenter Retrospective Study in Spain
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Díaz, Juan J, Espín, Beatriz, Segarra, Oscar, Domínguez-Ortega, Gloria, Blasco-Alonso, Javier, Cano, Beatriz, Rayo, Ana, Moreno, Ana, and Gastrointestinal Allergy Working Group of the Spanish Society of Pediatric Gastroenterology, Hepatology and Nutrition (SEGHNP)
- Subjects
Male ,medicine.medical_specialty ,Pallor ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,Internal medicine ,Epidemiology ,medicine ,Humans ,Child ,Retrospective Studies ,Enterocolitis ,business.industry ,Gastroenterology ,Infant ,Retrospective cohort study ,Syndrome ,Allergens ,Abdominal distension ,medicine.disease ,Food protein-induced enterocolitis syndrome ,Diarrhea ,Spain ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Vomiting ,Female ,030211 gastroenterology & hepatology ,Dietary Proteins ,medicine.symptom ,business ,Food Hypersensitivity - Abstract
Objective The aim of the study was to describe clinical, epidemiological, and management characteristics of food protein-induced enterocolitis syndrome (FPIES) cases in Spain. Patients and methods Multicenter observational retrospective study. FPIES cases diagnosed in specialized units in Spain over 12 months in 2017 (January-December) according to the recently published international diagnostic criteria were included. Results One hundred twenty patients (53.3% boys) were included. The majority were acute cases (111) with mild-to-moderate severity (76.7%). Triggering foods were cow's milk (48/120), fish (38), egg (13), rice (12), and soy (1). The majority (84.2%) of the patients had FPIES to 1 food only. In addition to vomiting (100%), pallor (89.2%), and altered behavior (88.3%) were most frequently observed in acute forms. On the contrary, diarrhea (70%), abdominal distension (33.3%), and blood in stools (44.4%) were more frequently observed in chronic cases. Oral challenge was performed in 18.9% of the acute forms compared to 44.4% of the chronic forms. The most common treatment was intravenous fluids followed by ondansetron. Corticosteroids were used in 6 patients (5 with acute symptoms and 1 chronic). Seven patients were treated with antibiotics for suspicion of infection. Most cases of cow's milk FPIES were treated with extensively hydrolyzed formulas (69.8%). Conclusions FPIES is not uncommon in our units. Unlike other published series, fish and egg are important triggers in our country. A greater knowledge and diffusion of the international consensus criteria will allow a better characterization of the cases and a standardization of their management.
- Published
- 2019
29. The New Molecules Are Changing the Course of Pediatric Chronically Active Ulcerative Colitis: A Series of Pediatric Cases
- Author
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Martín-Masot, Rafael, primary, Ortiz Pérez, Pilar, additional, Torcuato Rubio, Encarnación, additional, Blasco Alonso, Javier, additional, Herrador López, Marta, additional, Gallego Fernández, Carmen, additional, and Navas-López, Víctor Manuel, additional
- Published
- 2021
- Full Text
- View/download PDF
30. Herbst’s Triad as a Manifestation of Gastroesophageal Reflux Disease
- Author
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Torcuato Rubio, Encarnación, primary, Martín-Masot, Rafael, additional, Ortiz Pérez, Pilar, additional, Serrano Nieto, María Juliana, additional, Díaz Ruiz, Juan, additional, Blasco-Alonso, Javier, additional, and Navas-López, Víctor Manuel, additional
- Published
- 2021
- Full Text
- View/download PDF
31. Metabolic serendipities of expanded newborn screening
- Author
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European Commission, Yahyaoui, Raquel, Blasco-Alonso, Javier, Gonzalo-Marín, Montserrat, Benito, Carmen, Serrano-Nieto, Juliana, González-Gallego, Inmaculada, Ruiz-Sala, Pedro, Pérez, Belén, González-Lamuño, Domingo, European Commission, Yahyaoui, Raquel, Blasco-Alonso, Javier, Gonzalo-Marín, Montserrat, Benito, Carmen, Serrano-Nieto, Juliana, González-Gallego, Inmaculada, Ruiz-Sala, Pedro, Pérez, Belén, and González-Lamuño, Domingo
- Abstract
Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have an immediate clinical impact on the newborn, but are sometimes an additional benefit of NBS programs and may be considered secondary targets of NBS programs. This work describes four case reports that had incidental findings on the NBS, which eventually led to the diagnosis of another metabolic disease instead of the one that was initially suspected. The first case was a new defect in the cationic amino acid transporter-2 (CAT-2), which was oriented as an arginase-1 deficiency in the newborn. The second case was a maternal glutaric aciduria type 1 (GA-1) that mimicked a carnitine transporter deficiency in the newborn. The third report was a case of lysinuric protein intolerance (LPI), which appeared as high levels of citrulline on the NBS. The fourth case was a mother with homocystinuria that was diagnosed during the biochemical study of vitamin B12 status. All cases provide new or interesting data that will help guide differential diagnosis in the future
- Published
- 2020
32. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
- Author
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Pintos-Morell, Guillem, Blasco Alonso, Javier, Couce, Maria Luz, Gutiérrez-Solana, Luis G, Guillén-Navarro, Encarnación, O'Callaghan, Maria del Mar, del Toro, Mireia, Universitat Autònoma de Barcelona, and Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría
- Subjects
0301 basic medicine ,Quality of life ,medicine.medical_specialty ,Lysosomal storage disorder ,Urinary system ,MPS IVA ,Mucopolysaccharidosis Type IVA ,03 medical and health sciences ,chemistry.chemical_compound ,Endocrinology ,Elosulfase alfa ,Internal medicine ,Morquio A ,Genetics ,Medicine ,In patient ,Molecular Biology ,lcsh:QH301-705.5 ,lcsh:R5-920 ,Walking test ,business.industry ,Enzyme replacement therapy ,Urinary GAGs ,Molecular analysis ,030104 developmental biology ,chemistry ,lcsh:Biology (General) ,business ,lcsh:Medicine (General) ,human activities ,Research Paper - Abstract
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program. Efficacy was evaluated based on the distance walked in the 6-min walking test (6-MWT) and the 3-min-stair-climb-test (3-MSCT) at baseline and after 8 months of ERT treatment. Additionally, urinary glycosaminoglycans were measured, and a molecular analysis of a GALNS mutation was performed. The health-related quality of life was evaluated using the EuroQoL (EQ)-5D-5 L.The distance walked according to the 6-MWT ranged from 0 to 325 m at baseline and increased to 12–300 m after 8 months with elosulfase alfa (the walked distance improved in all patients except one). An increase was observed for the two patients who had to use a wheelchair. Improvements were also observed for the 3-MSCT in four patients, whereas two patients showed no changes. Three patients showed an improvement in the EQ-VAS score, whereas the scores of three patients remained stable. Regarding urinary glycosaminoglycans measurements, an irregular response was observed. Our results showed overall improvement in endurance and functionality after 8 months of elosulfase alfa treatment in a heterogeneous subset of MPS IVA patients with severe clinical manifestations managed in a real-world setting. Keywords: MPS IVA, Morquio A, Lysosomal storage disorder, Urinary GAGs, Elosulfase alfa, Quality of life
- Published
- 2018
33. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
- Author
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Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, and Burgard, Peter
- Published
- 2015
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- View/download PDF
34. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
- Author
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Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., and Cazorla, Angeles Garcia
- Published
- 2015
- Full Text
- View/download PDF
35. Metabolic Serendipities of Expanded Newborn Screening
- Author
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Yahyaoui, Raquel, primary, Blasco-Alonso, Javier, additional, Gonzalo-Marín, Montserrat, additional, Benito, Carmen, additional, Serrano-Nieto, Juliana, additional, González-Gallego, Inmaculada, additional, Ruiz-Sala, Pedro, additional, Pérez, Belén, additional, and González-Lamuño, Domingo, additional
- Published
- 2020
- Full Text
- View/download PDF
36. Non-alcoholic fatty liver in hereditary fructose intolerance
- Author
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Aldámiz-Echevarría, Luis, primary, de las Heras, Javier, additional, Couce, María Luz, additional, Alcalde, Carlos, additional, Vitoria, Isidro, additional, Bueno, María, additional, Blasco-Alonso, Javier, additional, Concepción García, María, additional, Ruiz, Mónica, additional, Suárez, Rafael, additional, Andrade, Fernando, additional, and Villate, Olatz, additional
- Published
- 2020
- Full Text
- View/download PDF
37. Severe encephalopathy and vitamin B12 deficiency: reversibility after nutritional therapy
- Author
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Blasco-Alonso, Javier, primary, Gil-Gómez, Raquel, additional, García Ruiz, Ana, additional, Cortés Herrera, Marta, additional, and Gutiérrez Schiaffino, Guiomar, additional
- Published
- 2020
- Full Text
- View/download PDF
38. Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry
- Author
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Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner, Matthias R., Dionisi‐Vici, Carlo, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco‐Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A., Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana, Gautschi, Matthias, González‐Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C. H., Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M., Martins, Esmeralda G., Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stephanie, Pedrón‐Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl‐Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld‐Adams, James, and Repositório da Universidade de Lisboa
- Abstract
© 2018 SSIEM, Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. Results: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. Conclusion: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design., This publication arises from the project E-HOD that has received funding from the European Union in the framework of the Health Programme. VK and PJ were supported by Institutional Research Programme RVO/VFN64165.
- Published
- 2019
39. Early prediction of phenotypic severity in Citrullinemia Type 1
- Author
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Zielonka, Matthias, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C S, Gropman, Andrea L, Hoffmann, Georg F, Garbade, Sven F, Posset, Roland, Sarajlija, Adrijan, Skouma, Anastasia, Schulze, Andreas, Garcia‐Cazorla, Angeles, Lund, A M, Jalan, Anil, Morris, Andrew, Dionisi‐Vici, Carlo, De Laet, Corinne, Leão Teles, Elisa, Diaz, G A, Berry, G T, Payan‐Walters, Irma, Blasco‐Alonso, Javier, Seminara, Jennifer, Bedoyan, Jirair K, Merritt, J Lawrence, Burrage, Lindsay C, Yudkoff, Marc, Schiff, Manuel, Baumgartner, Matthias R, et al, University of Zurich, and Posset, Roland
- Subjects
2728 Neurology (clinical) ,10036 Medical Clinic ,2800 General Neuroscience ,610 Medicine & health - Published
- 2019
40. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
- Author
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Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C. S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia‐Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan, Lee, Brendan, Harding, Cary O., Coughlin, Curtis R., Le Mons, Cynthia, Dobbelaere, Dries, Leão Teles, Elisa, Cortès‐Saladelafont, Elisenda, Gleich, Florian, Eyskens, Francois, Enns, Gregory, Wilkening, Greta N., Barić, Ivo, Lawrence Merritt, J., Heringer, Jana, Blasco‐Alonso, Javier, Zeman, Jiri, Häberle, Johannes, Sykut‐Cegielska, Jolanta, Djordjevic, Maja, Batshaw, Mark L., Summar, Marshall, Freisinger, Peter, Gallagher, Renata C., Berry, Susan A., Waisbren, Susan, Stricker, Tamar, and for the Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group
- Subjects
0301 basic medicine ,Adult ,Glycerol ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,medicine.medical_treatment ,Ornithine transcarbamylase ,Liver transplantation ,Asymptomatic ,Article ,03 medical and health sciences ,chemistry.chemical_compound ,Young Adult ,0302 clinical medicine ,Cognition ,Neonatal Screening ,Intellectual disability ,medicine ,urea cycle disorders ,diagnosis ,therapy ,cognitive function ,Humans ,Prospective Studies ,Glycerol phenylbutyrate ,Prospective cohort study ,Child ,Urea Cycle Disorders, Inborn ,Newborn screening ,business.industry ,Infant, Newborn ,Infant ,medicine.disease ,Mental Status and Dementia Tests ,Phenylbutyrates ,Liver Transplantation ,030104 developmental biology ,Cross-Sectional Studies ,Neurology ,chemistry ,Child, Preschool ,Female ,Neurology (clinical) ,medicine.symptom ,business ,Neurocognitive ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
OBJECTIVE Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs. METHODS This prospective, observational, multicenter study includes data from 503 individuals with UCDs who had comprehensive neurocognitive testing with a cumulative follow-up of 702 patient-years. RESULTS The mean cognitive standard deviation score (cSDS) was lower in symptomatic than in asymptomatic (p < 0.001, t test) individuals with UCDs. Intellectual disability (intellectual quotient < 70, cSDS < -2.0) was associated with the respective subtype of UCD and early disease onset, whereas height of the initial peak plasma ammonium concentration was inversely associated with neurocognitive outcomes in mitochondrial (proximal) rather than cytosolic (distal) UCDs. In ornithine transcarbamylase and argininosuccinate synthetase 1 deficiencies, we did not find evidence that monoscavenger therapy with sodium or glycerol phenylbutyrate was superior to sodium benzoate in providing cognitive protection. Early liver transplantation appears to be beneficial for UCDs. It is noteworthy that individuals with argininosuccinate synthetase 1 and argininosuccinate lyase deficiencies identified by newborn screening had better neurocognitive outcomes than those diagnosed after the manifestation of first symptoms. INTERPRETATION Cognitive function is related to interventional and non-interventional variables. Early detection by newborn screening and early liver transplantation appear to offer greater cognitive protection, but none of the currently used nitrogen scavengers was superior with regard to long-term neurocognitive outcome. Further confirmation could determine these variables as important clinical indicators of neuroprotection for individuals with UCDs. ANN NEUROL 2019.
- Published
- 2018
41. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
- Author
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UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de neurologie pédiatrique, Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A, Seifert, Burkhardt, Froese, D Sean, Baumgartner, Matthias R, Dionisi-Vici, Carlo, EHOD consortium, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco-Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A, Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana Maria, Gautschi, Matthias, González-Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C H, Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M, Martins, Esmeralda G, Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stéphanie, Pedrón-Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl-Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld-Adams, James, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de neurologie pédiatrique, Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A, Seifert, Burkhardt, Froese, D Sean, Baumgartner, Matthias R, Dionisi-Vici, Carlo, EHOD consortium, Martin, Carlos Alcalde, Baethmann, Martina, Ballhausen, Diana, Blasco-Alonso, Javier, Boy, Nikolas, Bueno, Maria, Burgos Peláez, Rosa, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A, Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana Maria, Gautschi, Matthias, González-Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C H, Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M, Martins, Esmeralda G, Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stéphanie, Pedrón-Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl-Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, and Weisfeld-Adams, James
- Abstract
AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. CONCLUSION: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design.
- Published
- 2019
42. Early prediction of phenotypic severity in Citrullinemia Type 1
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Zielonka, Matthias; https://orcid.org/0000-0001-9653-2914, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C S, Gropman, Andrea L, Hoffmann, Georg F, Garbade, Sven F, Posset, Roland; https://orcid.org/0000-0002-2249-3980, Sarajlija, Adrijan, Skouma, Anastasia, Schulze, Andreas, Garcia‐Cazorla, Angeles, Lund, A M, Jalan, Anil, Morris, Andrew, Dionisi‐Vici, Carlo, De Laet, Corinne, Leão Teles, Elisa, Diaz, G A, Berry, G T, Payan‐Walters, Irma, Blasco‐Alonso, Javier, Seminara, Jennifer, Bedoyan, Jirair K, Merritt, J Lawrence, Burrage, Lindsay C, Yudkoff, Marc, Schiff, Manuel, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, et al, Zielonka, Matthias; https://orcid.org/0000-0001-9653-2914, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C S, Gropman, Andrea L, Hoffmann, Georg F, Garbade, Sven F, Posset, Roland; https://orcid.org/0000-0002-2249-3980, Sarajlija, Adrijan, Skouma, Anastasia, Schulze, Andreas, Garcia‐Cazorla, Angeles, Lund, A M, Jalan, Anil, Morris, Andrew, Dionisi‐Vici, Carlo, De Laet, Corinne, Leão Teles, Elisa, Diaz, G A, Berry, G T, Payan‐Walters, Irma, Blasco‐Alonso, Javier, Seminara, Jennifer, Bedoyan, Jirair K, Merritt, J Lawrence, Burrage, Lindsay C, Yudkoff, Marc, Schiff, Manuel, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, and et al
- Abstract
Objective Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting the brain which is detectable by newborn screening. The clinical spectrum is highly variable including individuals with lethal hyperammonemic encephalopathy in the newborn period and individuals with a mild‐to‐moderate or asymptomatic disease course. Since the phenotypic severity has not been predictable early during the disease course so far, we aimed to design a reliable disease prediction model. Methods We used a newly established mammalian biallelic expression system to determine residual enzymatic activity of argininosuccinate synthetase 1 (ASS1; OMIM #215700) in 71 individuals with CTLN1, representing 48 ASS1 gene variants and 50 different, mostly compound heterozygous combinations in total. Residual enzymatic ASS1 activity was correlated to standardized biochemical and clinical endpoints available from the UCDC and E‐IMD databases. Results Residual enzymatic ASS1 activity correlates with peak plasma ammonium and L‐citrulline concentrations at initial presentation. Individuals with 8% of residual enzymatic ASS1 activity or less had more frequent and more severe hyperammonemic events and lower cognitive function than those above 8%, highlighting that residual enzymatic ASS1 activity allows reliable severity prediction. Noteworthy, empiric clinical practice of affected individuals is in line with the predicted disease severity supporting the notion of a risk stratification‐based guidance of therapeutic decision‐making based on residual enzymatic ASS1 activity in the future. Interpretation Residual enzymatic ASS1 activity reliably predicts the phenotypic severity in CTLN1. We propose a new severity‐adjusted classification system for individuals with CTLN1 based on the activity results of the newly established biallelic expression system.
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- 2019
43. Estudio multicéntrico español: niños con hiperamoniemia no asociada a errores innatos del metabolismo
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Gil-Campos, Mercedes, Blasco-Alonso, Javier, Sierra Corcoles, Concepcion, Cuevas Cervera, Jose Luis, Arrabal Fernandez, Luisa, Aldamiz Echevarria, Luis, Belanger, Amaya, [Gil-Campos, Mercedes] Hosp Univ Reina Sofia, Inst Maimonides Invest Biomed IMIBIC, Unidad Metab & Invest Pediat, Ciber Obesidad & Nutr CiberObn, Cordoba, Spain, [Blasco-Alonso, Javier] Hosp Reg Univ Malaga, Unidad Gastroenterol & Nutr Infantil, Malaga, Spain, [Sierra Corcoles, Concepcion] Complejo Hosp Jaen, Unidad Neurol Pediat, Jaen, Spain, [Cuevas Cervera, Jose Luis] Hosp Univ San Agustin Linares, Jaen, Spain, [Arrabal Fernandez, Luisa] Complejo Hosp Granada, Hosp Materno Infantil Virgen Nieves, Unidad Neuropediat, Granada, Spain, [Aldamiz Echevarria, Luis] Hosp Univ Cruces, BioCruces, Unidad Enfermedades Raras Metabol, Bilbao, Spain, and [Belanger, Amaya] Hosp Univ Ramon y Cajal, Serv Pediat, Unidad Enfermedades Metabol, Madrid, Spain
- Subjects
Risk ,Ácido valproico ,Antiepileptic drugs ,Encefalopatía metabólica ,Ácido carglúmico ,Encephalopathy ,Antiepilépticos ,Amonio ,Management ,Carglumic acid ,Metabolic encephalopathy ,Ammonia ,N-carbamylglutamate ,Valproic acid - Abstract
Introducción: la encefalopatía hiperamoniémica inducida por causas diferentes a los errores innatos del metabolismo es una complicación relativamente infrecuente, pero muy grave. Objetivos: conocer las características de un episodio de hiperamoniemia secundaria, tratar de discernir las causas desencadenantes, cómo se llega al diagnóstico del episodio y cómo se desarrolla la actuación terapéutica. Métodos: es un estudio multicéntrico retrospectivo de casos pediátricos con hiperamoniemia no relacionada con errores innatos del metabolismo, llevado a cabo en hospitales españoles. Resultados: fueron seleccionados 19 pacientes y en un 47% el episodio de hiperamoniemia apareció en menores de un año, que fueron diagnosticados mayoritariamente con dos o más síntomas. La clínica más frecuente fue la de alteración del nivel de conciencia tipo intoxicación, seguida de las crisis convulsivas, sumando en ambas hasta 14 pacientes con alguna de ellas o las dos. Doce de los 19 pacientes utilizaban más de dos fármacos antiepilépticos de forma habitual. Todos los niños recibieron tratamiento con restricción proteica (n: 10), quelantes (n: 10) y/o ácido carglúmico (n: 12) para el tratamiento de la hiperamoniemia. Conclusiones: este estudio sugiere que la hiperamoniemia secundaria puede estar infradiagnosticada y solo se detecta cuando aparece una sintomatología grave. Parecen ser pacientes de riesgo aquellos que reciben fármacos antiepilépticos o aquellos críticos con una alimentación restringida o un metabolismo elevado. La respuesta con tratamiento específico es adecuada pero debe ser precoz para evitar las secuelas neurológicas de esta entidad. Introduction: The hyperammonemic encephalopathy induced by causes different from inborn errors of metabolism is a relatively uncommon but severe complication. Objectives: To study the characteristics of a secondary hyperammonemia episode to discern the triggering causes to get to the diagnosis, and the development in the therapeutic intervention. Methods: A multicenter retrospective study of children with hyperammonemia unrelated to inborn errors of metabolism, conducted in Spanish hospitals. Results: Nineteen patients were selected; hyperammonemia developed in infants under one year old in 47% of them, being diagnosed mostly with two or more symptoms. The most common clinical finding was an altered consciousness level similar to that of intoxication symptoms, followed by seizures. These clinical symptoms were present in 14 patients, with one of them or both. Twelve of the 19 patients were in treatment with more than two antiepileptic drugs routinely. All children were treated with protein restriction (n: 10), scavengers (n: 10) and/or carglumic acid (n: 12) for the treatment of hyperammonemia. Conclusions: This study suggests that secondary hyperammonemia could be underdiagnosed because it is only detected when severe symptoms appear. Risk seems to be higher in those patients receiving antiepileptic drugs or those critically ill with a restricted diet or incremented metabolism. The response to specific treatment is adequate but should be established earlier to avoid neurological sequelae of this entity.
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- 2017
44. Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
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Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A. M., Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Blom, Henk J., Huemer, Martina, Aldámiz‐Echevarría, Luis, Arantes, Rodrigo Rezende, Arrieta, Francisco, Blasco‐Alonso, Javier, Brouwers, Martijn, Brunner‐Krainz, Michaela, Bueno, María, Peláez, Rosa Burgos, and Cano, Aline
- Abstract
Cystathionine β‐synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E‐HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non‐responders (NR), partial, full and extreme responders (PR, FR and ER, respectively). All groups showed overlapping concentrations of plasma total homocysteine while pyridoxine responsiveness inversely correlated with plasma/serum methionine concentrations. The FR and ER groups had a later age of onset and diagnosis and a longer diagnostic delay than NR and PR patients. Lens dislocation was common in all groups except ER but the age of dislocation increased with increasing responsiveness. Developmental delay was commonest in the NR group while no ER patient had cognitive impairment. Thromboembolism was the commonest presenting feature in ER patients, whereas it was least likely at presentation in the NR group. This probably is due to the differences in ages at presentation: all groups had a similar number of thromboembolic events per 1000 patient‐years. Clinical severity of CBS deficiency depends on the degree of pyridoxine responsiveness. Therefore, a standardised pyridoxine‐responsiveness test in newly diagnosed patients and a critical review of previous assessments is indispensable to ensure adequate therapy and to prevent or reduce long‐term complications. [ABSTRACT FROM AUTHOR]
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- 2021
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45. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening
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Yahyaoui, Raquel, primary, Blasco-Alonso, Javier, additional, Benito, Carmen, additional, Rodríguez-García, Enrique, additional, Andrade, Fernando, additional, Aldámiz-Echevarría, Luis, additional, Muñoz-Hernández, María C., additional, Vega, Ana I., additional, Pérez-Cerdá, Celia, additional, García-Martín, María L., additional, and Pérez, Belén, additional
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- 2019
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46. Central Venous Sinus Thrombosis in a Boy With Acute Severe Ulcerative Colitis
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Martín-Masot, Rafael, primary, Ortiz Pérez, Pilar, additional, Serrano Nieto, Juliana, additional, Martínez León, María, additional, Pascual Martínez, Antonia, additional, Blasco-Alonso, Javier, additional, and Navas-López, Victor Manuel, additional
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- 2019
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47. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
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Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Pintos Morell, Guillem, Blasco Alonso, Javier, Couce Pico, María de la Luz, Gutiérrez Solana, Luís G., Guillén Navarro, Encarnación, O'Callaghan, Mar, Toro, Mireia del, Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Pintos Morell, Guillem, Blasco Alonso, Javier, Couce Pico, María de la Luz, Gutiérrez Solana, Luís G., Guillén Navarro, Encarnación, O'Callaghan, Mar, and Toro, Mireia del
- Abstract
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfasealfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present theexperience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program. Efficacy wasevaluated based on the distance walked in the 6-min walking test (6-MWT) and the 3-min-stair-climb-test (3-MSCT) at baseline and after 8 months of ERT treatment. Additionally, urinary glycosaminoglycans were mea-sured, and a molecular analysis of a GALNS mutation was performed. The health-related quality of life wasevaluated using the EuroQoL (EQ)-5D-5 L.The distance walked according to the 6-MWT ranged from 0 to 325 m at baseline and increased to 12–300 mafter 8 months with elosulfase alfa (the walked distance improved in all patients except one). An increase wasobserved for the two patients who had to use a wheelchair. Improvements were also observed for the 3-MSCT infour patients, whereas two patients showed no changes. Three patients showed an improvement in the EQ-VASscore, whereas the scores of three patients remained stable. Regarding urinary glycosaminoglycans measure-ments, an irregular response was observed. Our results showed overall improvement in endurance and func-tionality after 8 months of elosulfase alfa treatment in a heterogeneous subset of MPS IVA patients with severeclinical manifestations managed in a real-world setting.
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- 2018
48. Encefalopatía grave y deficiencia de vitamina B12: reversibilidad tras la terapia nutricional.
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Blasco-Alonso, Javier, Gil-Gómez, Raquel, García Ruiz, Ana, Cortés Hernández, Marta, and Gutiérrez Schiaffino, Guiomar
- Abstract
Introduction: Introduction: the vitamin cobalamin is essential for a proper functioning of the CNS, hematopoiesis, and DNA synthesis. Its deficiency is frequently secondary to pernicious anemia or strict vegetarian diets. Case report: an 18-month-old male infant presented with a decreased level of consciousness and movement disorder (tremor and choreiform movements) of several hours' standing. He had a history of delayed acquisition of motor milestones (not standing, monosyllabic language), and progressive loss of these over the last few weeks (head support and sitting). He had been breastfed from birth. His family has a vegetarian diet. In neuroimages, cranial CT and MRI scans showed generalized supratentorial atrophy involving both matters and the basal ganglia. Treatment was started with intramuscular vitamin B12, which increased its levels. Subsequently, the patient was subjected to dietary diversification and oral cyanocobalamin, with clinical normalization after 6 months and radiological normalization after 7 months. Conclusions: we emphasize the importance of vitamin B12 supplementation during pregnancy and lactation in vegetarina mothers and their infants. [ABSTRACT FROM AUTHOR]- Published
- 2020
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49. Trasplante de microbiota fecal en niño con enfermedad inflamatoria intestinal de inicio muy precoz
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Sierra Salinas, Carlos, primary, Vicioso Recio, María Isabel, additional, Blasco-Alonso, Javier, additional, Serrano Nieto, María Juliana, additional, and Navas-López, Víctor Manuel, additional
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- 2018
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50. Faecal microbiota transplant in a child with very early onset inflammatory bowel disease
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Sierra Salinas, Carlos, primary, Vicioso Recio, María Isabel, additional, Blasco-Alonso, Javier, additional, Serrano Nieto, María Juliana, additional, and Navas-López, Víctor Manuel, additional
- Published
- 2018
- Full Text
- View/download PDF
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