14 results on '"Chumillas-Calzada, Silvia"'
Search Results
2. Vitamin C and folate status in hereditary fructose intolerance
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Cano, Ainara, Alcalde, Carlos, Belanger-Quintana, Amaya, Cañedo-Villarroya, Elvira, Ceberio, Leticia, Chumillas-Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García-Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo-García, Elsa, Chicano, Dámaris Martínez, Morales, Montserrat, Pedrón-Giner, Consuelo, Jáuregui, Estrella Petrina, Peña-Quintana, Luis, Sánchez-Pintos, Paula, Serrano-Nieto, Juliana, Suarez, María Unceta, Miñana, Isidro Vitoria, and de las Heras, Javier
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- 2022
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3. FRI-153 High prevalence of steatotic liver disease and systemic inflammation in hereditary fructose intolerance (HFI) patients independent of age, BMI and the presence of metabolic syndrome
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Delgado, Teresa Cardoso, primary, Cano, Ainara, additional, Mercado-Gómez, Maria, additional, Buque, Xabier, additional, Alonso, Cristina, additional, Serrano-Macia, Marina, additional, Alcalde, Carlos, additional, Belanger-Quintana, Amaya, additional, Cañedo-Villarroya, Elvira, additional, Hualde, Leticia Ceberia, additional, Chumillas-Calzada, Silvia, additional, Correcher, Patricia, additional, García-Arenas, Dolores, additional, Gómez, Igor, additional, Hernández, Tomáz, additional, Izquierdo-García, Elsa, additional, Chicano, Dámaris Martínez, additional, Morales, Montserrat, additional, Pedrón-Giner, Consuelo, additional, Jáuregui, Estrella Petrina, additional, Peña, Luis, additional, Sánchez-Pintos, Paula, additional, Serrano-Nieto, Juliana, additional, Suárez, Maria Unceta, additional, Miñana, Isidro Vitoria, additional, Larena, Jose Alejandro, additional, Couce, María Luz, additional, Martínez-Chantar, María Luz, additional, Aspichueta, Patricia, additional, and de las Heras Montero, Javier, additional
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- 2024
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4. Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
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Martín-Rivada, Álvaro, primary, Cambra Conejero, Ana, additional, Martín-Hernández, Elena, additional, Moráis López, Ana, additional, Bélanger-Quintana, Amaya, additional, Cañedo Villarroya, Elvira, additional, Quijada-Fraile, Pilar, additional, Bellusci, Marcelo, additional, Chumillas Calzada, Silvia, additional, Bergua Martínez, Ana, additional, Stanescu, Sinziana, additional, Martínez-Pardo Casanova, Mercedes, additional, Ruíz-Sala, Pedro, additional, Ugarte, Magdalena, additional, Pérez González, Belén, additional, and Pedrón-Giner, Consuelo, additional
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- 2022
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5. Vitamin C and folate status in hereditary fructose intolerance
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Pediatría, Pediatria, Cano San José, Ainara, Alcalde, Carlos, Belanger Quintana, Amaya, Cañedo Villarroya, Elvira, Ceberio, Leticia, Chumillas Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo García, Elsa, Martínez Chicano, Dámaris, Morales, Montserrat, Pedrón Giner, Consuelo, Petrina Jáuregui, Estrella, Peña Quintana, Luis, Sánchez Pintos, Paula, Serrano Nieto, Juliana, Unceta Suárez, María, Vitoria Miñana, Isidro, De las Heras Montero, Javier Adolfo, Pediatría, Pediatria, Cano San José, Ainara, Alcalde, Carlos, Belanger Quintana, Amaya, Cañedo Villarroya, Elvira, Ceberio, Leticia, Chumillas Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo García, Elsa, Martínez Chicano, Dámaris, Morales, Montserrat, Pedrón Giner, Consuelo, Petrina Jáuregui, Estrella, Peña Quintana, Luis, Sánchez Pintos, Paula, Serrano Nieto, Juliana, Unceta Suárez, María, Vitoria Miñana, Isidro, and De las Heras Montero, Javier Adolfo
- Abstract
Background Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of presenting vitamin deficiencies. Although there is no published data on the status of these vitamins in HFI patients, supplementation with vitamin C and folic acid is common. Therefore, the aim of this study was to assess vitamin C and folate status and supplementation practices in a nationwide cohort of HFI patients. Methods Vitamin C and folic acid dietary intake, supplementation and circulating levels were assessed in 32 HFI patients and 32 age- and sex-matched healthy controls. Results Most of the HFI participants presented vitamin C (96.7%) and folate (90%) dietary intake below the recommended population reference intake. Up to 69% received vitamin C and 50% folic acid supplementation. Among HFI patients, 15.6% presented vitamin C and 3.1% folate deficiency. The amount of vitamin C supplementation and plasma levels correlated positively (R = 0.443; p = 0.011). Interestingly, a higher percentage of non-supplemented HFI patients were vitamin C deficient when compared to supplemented HFI patients (30% vs. 9.1%; p = 0.01) and to healthy controls (30% vs. 3.1%; p < 0.001). Conclusions Our results provide evidence for the first time supporting vitamin C supplementation in HFI. There is great heterogeneity in vitamin supplementation practices and, despite follow-up at specialised centres, vitamin C deficiency is common. Further research is warranted to establish optimal doses of vitamin C and the need for folic acid supplementation in HFI.
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- 2022
6. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
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Martín‐Rivada, Álvaro, primary, Palomino Pérez, Laura, additional, Ruiz‐Sala, Pedro, additional, Navarrete, Rosa, additional, Cambra Conejero, Ana, additional, Quijada Fraile, Pilar, additional, Moráis López, Ana, additional, Belanger‐Quintana, Amaya, additional, Martín‐Hernández, Elena, additional, Bellusci, Marcello, additional, Cañedo Villaroya, Elvira, additional, Chumillas Calzada, Silvia, additional, García Silva, María Teresa, additional, Bergua Martínez, Ana, additional, Stanescu, Sinziana, additional, Martínez‐Pardo Casanova, Mercedes, additional, Ruano, Miguel L. F., additional, Ugarte, Magdalena, additional, Pérez, Belén, additional, and Pedrón‐Giner, Consuelo, additional
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- 2022
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7. Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
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Cano, Ainara, primary, Alcalde, Carlos, additional, Belanger-Quintana, Amaya, additional, Cañedo-Villarroya, Elvira, additional, Ceberio, Leticia, additional, Chumillas-Calzada, Silvia, additional, Correcher, Patricia, additional, Couce, María Luz, additional, García-Arenas, Dolores, additional, Gómez, Igor, additional, Hernández, Tomás, additional, Izquierdo-García, Elsa, additional, Martínez Chicano, Dámaris, additional, Morales, Montserrat, additional, Pedrón-Giner, Consuelo, additional, Petrina Jáuregui, Estrella, additional, Peña-Quintana, Luis, additional, Sánchez-Pintos, Paula, additional, Serrano-Nieto, Juliana, additional, Unceta Suarez, María, additional, Vitoria Miñana, Isidro, additional, and de las Heras, Javier, additional
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- 2021
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8. Hepatomegalia, polifagia e hipertransaminasemia
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Aymerich de Franchesci,Clara Mª, Riego Martínez,Andrea, Murillo Hernández,Marta, Chumillas Calzada,Silvia, Coca Robinot,David, Álvarez Mora,Mª Isabel, Carabaño Aguado,Iván, and Medina Benítez,Enrique
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Hiperfagia ,Glucogenosis ,Hipertransaminasemia ,Hipoglucemia ,Hepatomegalia - Abstract
Resumen La glucogenosis es una enfermedad metabólica poco frecuente, producida por un trastorno del metabolismo de los hidratos de carbono. Existen múltiples variantes en función de la enzima implicada, la tipo 9 se produce por una deficiencia de la glucógeno desfoforilasa-cinasa a nivel hepático y se caracteriza por la presencia de hepatomegalia, hipertransaminasemia e hipoglucemia con el ayuno. Se presenta el caso de una lactante de 10 meses, cuyos síntomas guías fueron la distensión abdominal y la hiperfagia. El diagnóstico de glucogenosis se confirmó mediante el estudio genético, objetivándose una mutación en el gen PHKG2, compatible con el diagnóstico de enfermedad de almacenamiento de glucógeno tipo 9C. Se instauró tratamiento sintomático, evitando el ayuno y aumentando la ingesta hidratos de carbono de absorción lenta, con buena evolución clínica.
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- 2021
9. Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
- Author
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Pediatría, Pediatria, Cano, Ainara, Alcalde, Carlos, Belanger Quintana, Amaya, Cañedo Villarroya, Elvira, Ceberio, Leticia, Chumillas Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo García, Elsa, Martínez Chicano, Dámaris, Morales, Montserrat, Pedrón Giner, Consuelo, Petrina Jáuregui, Estrella, Peña Quintana, Luis, Sánchez Pintos, Paula, Serrano Nieto, Juliana, Unceta Suárez, María, Vitoria Miñana, Isidro, De las Heras Montero, Javier Adolfo, Pediatría, Pediatria, Cano, Ainara, Alcalde, Carlos, Belanger Quintana, Amaya, Cañedo Villarroya, Elvira, Ceberio, Leticia, Chumillas Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo García, Elsa, Martínez Chicano, Dámaris, Morales, Montserrat, Pedrón Giner, Consuelo, Petrina Jáuregui, Estrella, Peña Quintana, Luis, Sánchez Pintos, Paula, Serrano Nieto, Juliana, Unceta Suárez, María, Vitoria Miñana, Isidro, and De las Heras Montero, Javier Adolfo
- Abstract
Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p < 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = −0.386, p = 0.024) and FSS (R = −0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy.
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- 2021
10. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
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Martín‐Rivada, Álvaro, Palomino Pérez, Laura, Ruiz‐Sala, Pedro, Navarrete, Rosa, Cambra Conejero, Ana, Quijada Fraile, Pilar, Moráis López, Ana, Belanger‐Quintana, Amaya, Martín‐Hernández, Elena, Bellusci, Marcello, Cañedo Villaroya, Elvira, Chumillas Calzada, Silvia, García Silva, María Teresa, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez‐Pardo Casanova, Mercedes, Ruano, Miguel L. F., Ugarte, Magdalena, Pérez, Belén, and Pedrón‐Giner, Consuelo
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- 2022
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11. Chemotherapy in a Breast Cancer Patient Heterozygous Carrier of Ornithine Transcarbamylase Deficiency
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Palka-Kotlowska, Magda, primary, Cabezón-Gutiérrez, Luis, additional, Custodio-Cabello, Sara, additional, Quijada-Fraile, PIlar, additional, and Chumillas-Calzada, Silvia, additional
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- 2020
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12. Early Hypophosphatemia in High-Risk Preterm Infants: Efficacy and Safety of Sodium Glycerophosphate From First Day on Parenteral Nutrition
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Bustos Lozano, Gerardo, primary, Soriano-Ramos, María, additional, Pinilla Martín, María Teresa, additional, Chumillas Calzada, Silvia, additional, García Soria, Carmen Elia, additional, and Pallás-Alonso, Carmen Rosa, additional
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- 2018
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13. Early Hypophosphatemia in High-Risk Preterm Infants: Efficacy and Safety of Sodium Glycerophosphate From First Day on Parenteral Nutrition.
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Bustos Lozano, Gerardo, Soriano‐Ramos, María, Pinilla Martín, María Teresa, Chumillas Calzada, Silvia, García Soria, Carmen Elia, Pallás‐Alonso, Carmen Rosa, Soriano-Ramos, María, and Pallás-Alonso, Carmen Rosa
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PREMATURE infants ,HYPOPHOSPHATEMIA ,PARENTERAL feeding ,LOW birth weight ,INFANT nutrition ,BIRTH weight ,INTENSIVE care units - Abstract
Background: Early hypophosphatemia is common in premature infants ≤1250 g. The aim of this study was to assess the frequency and severity of hypophosphatemia after sodium glycerophosphate supplementation from first day of life in parenteral nutrition and to address the safety of this practice.Methods: Prospective cohort study of infants ≤1250 g birth weight born in a tertiary-care level neonatal intensive care unit and supplied with sodium glycerophosphate from the first day of life. Primary outcome was the presence of hypophosphatemia (<4 mg/dL) on the first week. Data were compared with our 2014 prospective subcohort of infants ≤1250 g receiving phosphate after 48 hours of life and morbidity with that of our 2016 retrospective cohort of ≤1250 g.Results: Fifty-four neonates were included. The frequency of hypophosphatemia was 29.6%. Only 1 patient presented hypophosphatemia <2 mg/dL. Mild hypokalemia was found in 8 patients (50%). No cases of hypernatremia were observed. Patients with hypophosphatemia had significantly lower gestational age (27.4 vs 28.8 weeks, P = .032) and lower z-score birth weight (-1.68 vs -0.47; P = .001). When compared with the 2014 subcohort, we found a lower frequency of hypophosphatemia (29.6% vs 69.2%; P = .008) and a lower rate of samples with hypophosphatemia (20.4% vs 51.4%; P = .0002) and critical hypophosphatemia (0.68% vs 11.4%, P = .0005). No differences were found in morbidity or mortality.Conclusions: Sodium glycerophosphate supplementation in parenteral nutrition from the first day of life significantly decreased the frequency of hypophosphatemia. No adverse events were reported. [ABSTRACT FROM AUTHOR]- Published
- 2019
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14. [Newborn Screening Program in the Community of Madrid: evaluation of positive cases.]
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Cambra Conejero A, Martínez Figueras L, Ortiz Temprado A, Blanco Soto P, Martín Rivada Á, Palomino Pérez L, Cañedo Villarroya E, Pedrón Giner C, Quijada Fraile P, Martín-Hernández E, García Silva MT, Chumillas Calzada S, Bellusci M, Belanger-Quintana A, Stanescu S, Martínez-Pardo Casanova M, Moráis López A, Bergua Martínez A, Ruiz-Salas P, Pérez González B, Ugarte M, and Ruano MLF
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- Amino Acid Metabolism, Inborn Errors epidemiology, Carnitine analogs & derivatives, Carnitine blood, Cities, Female, Humans, Infant, Newborn, Lipid Metabolism, Inborn Errors epidemiology, Male, Predictive Value of Tests, Prevalence, Spain, Acyl-CoA Dehydrogenase deficiency, Amino Acid Metabolism, Inborn Errors diagnosis, Lipid Metabolism, Inborn Errors diagnosis, Neonatal Screening methods, Tandem Mass Spectrometry methods
- Abstract
Objective: Tandem mass spectrometry (MS/MS) is being used for newborn screening since this laboratory testing technology increases the number of metabolic disorders that can be detected from dried blood-spot specimens. In the Community of Madrid, it was implemented in March 2011 and it includes 13 aminoacidopathies, fatty acid oxidation disorders and organic acidemias. The aim of this study was to describe our experience and evaluate the screening positive cases in a period of 9 years (2011-2019)., Methods: During the period of the study, a total of 592.822 neonates were screened with this expanded program by MS/MS in the Community of Madrid. Amino acids, acylcarnitines, and succinylacetone were quantified in all samples that met the quality criteria. Means, medians, percentiles and standard deviation of the analytes and ratios of interest were calculated., Results: 901 patients (0,15 %) with a positive screening test were referred to clinical evaluation. 230 patients were diagnosed of 30 different inborn errors of metabolism (prevalence 1:2577), 11 of which were not included as a target in the Community of Madrid newborn screening program. The global positive predictive value was 25,6 %. During this period of time, two false negative cases were detected. The most prevalent disorders were phenylketonuria/hyperphenylalaninemia and medium chain acyl-CoA dehydrogenase deficiency (1:6444 and 1:13174 respectively). 93 % of the patients were detected in the presymptomatic stage., Conclusions: During the last 9 years a large number of cases of IEM have been detected with an acceptable global positive predictive value. These results confirm the utility of inborn errors of metabolism newborn screening as a public health program., Competing Interests: Disclosure The authors report no conflicts of interest in this work.
- Published
- 2020
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