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19 results on '"Aldamiz-Echevarría, Luís"'

2. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

Author

Andrade, Fernando, Vitoria, Isidro, Martín Hernández, Elena, Pintos-Morell, Guillem, Correcher, Patricia, Puig-Piña, Rocío, Quijada-Fraile, Pilar, Peña-Quintana, Luis, Marquez, Ana Mª, Villate, Olatz, García Silva, Mª Teresa, de las Heras, Javier, Ceberio, Leticia, Rodrigues, Esmeralda, Almeida Campos, Teresa, Yahyaoui, Raquel, Blasco, Javier, Vives-Piñera, Inmaculada, Gil, David, del Toro, Mireia, Ruiz-Pons, Mónica, Cañedo, Elvira, Barba Romero, Miguel Angel, García-Jiménez, Mª Concepción, and Aldámiz-Echevarría, Luis

Published
2019
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4. Methionine and S-adenosylmethionine levels are critical regulators of PP2A activity modulating lipophagy during steatosis

Author

Zubiete-Franco, Imanol, García-Rodríguez, Juan Luis, Martínez-Uña, Maite, Martínez-Lopez, Nuria, Woodhoo, Ashwin, Juan, Virginia Gutiérrez-De, Beraza, Naiara, Lage-Medina, Sergio, Andrade, Fernando, Fernandez, Marta Llarena, Aldámiz-Echevarría, Luis, Fernández-Ramos, David, Falcon-Perez, Juan Manuel, Lopitz-Otsoa, Fernando, Fernandez-Tussy, Pablo, Barbier-Torres, Lucía, Luka, Zigmund, Wagner, Conrad, García-Monzón, Carmelo, Lu, Shelly C., Aspichueta, Patricia, Mato, José María, Martínez-Chantar, María Luz, and Varela-Rey, Marta

Published
2016
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14. Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening

Author

Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Urisarri, Adela, Gil, Marta, Mandiá, Natalia, Aldamiz Echevarría, Luís, Roca, Iria, González Lamuño, Domingo, Couce Pico, María de la Luz, Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Urisarri, Adela, Gil, Marta, Mandiá, Natalia, Aldamiz Echevarría, Luís, Roca, Iria, González Lamuño, Domingo, and Couce Pico, María de la Luz

Abstract

To evaluate the prognostic significance of factors frequently associated with a reduction in renal mass, such as prematurity, low birth weight, and congenital anomalies of kidney and urinary tract (CAKUT), in patients with solitary functioning kidney (SFK) and investigate signs of early renal injury due to glomerular hyperfiltration damage or dysplasia in the remaining kidney. Retrospective observational study of congenital SFK diagnosed and followed at a tertiary care hospital over a period of 10 years in which 32,900 newborns underwent routine neonatal abdominal ultrasound screening. We analyzed age at diagnosis, sex, gestational age, anthropometric measurements at birth and prenatal and neonatal ultrasound findings, in addition to follow-up data corresponding to imaging findings (ultrasound, micturating cystourethrography, dimercaptosuccinic acid renal, and scintigraphy), ipsilateral CAKUT, compensatory hypertrophy, and renal injury in the form of albuminuria, blood pressure, and estimated glomerular filtration rate (eGFR). In total, 128 congenital SFK cases were detected (1 per 257 live births). Of these, 117 (91.4%) were diagnosed by neonatal ultrasound screening and 44.5% of these had been previously identified by prenatal ultrasound. Neonatal ultrasound had a specificity of 100% and a sensitivity of 92.1%. Forty-five patients (35.2%) had ipsilateral CAKUT and the most common type was urinary collecting system anomalies (75.5%). Over a median follow-up of 6.3 years (1–10 years), compensatory renal hypertrophy was observed in 81 patients (63.7%), most of whom had ipsilateral CAKUT (76.1% vs 56.6% of patients without ipsilateral CAKUT). Albuminuria and hypertension were observed in 3.12% and 5% of patients, respectively, and both were associated with ipsilateral CAKUT (P < .05). In addition, 75% of albuminuria cases (P = .031), 83.3% of hypertension cases (P = .004), and 100% of decreased eGFRcases (P = .031) were significantly associated with CAKUT (renal paren

Published
2018

16. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

Author

Couce, María L, primary, Aldamiz-Echevarría, Luís, additional, Bueno, María A, additional, Barros, Patricia, additional, Belanger-Quintana, Amaya, additional, Blasco, Javier, additional, García-Silva, María-Teresa, additional, Márquez-Armenteros, Ana M, additional, Vitoria, Isidro, additional, Vives, Inmaculada, additional, Navarrete, Rosa, additional, Fernández-Marmiesse, Ana, additional, Pérez, Belén, additional, and Pérez-Cerdá, Celia, additional

Published
2016
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