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6. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

Author

Uxia Esperón-Moldes, Manuel Ginarte-Val, Laura Rodríguez-Pazos, Laura Fachal, Ana Martín-Santiago, Asunción Vicente, David Jiménez-Gallo, Encarna Guillén-Navarro, Loreto Martorell Sampol, María Antonia González-Enseñat, and Ana Vega

Subjects
Medicine, Science
Abstract

Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multigene targeted NGS panel. From these, eight ARCI families (three of them with Moroccan origin) were found to carry five different CYP4F22 mutations, of which two were novel. Computational analysis showed that the mutations found were present in highly conserved residues of the protein and may affect its structure and function. Seven of the eight families were carriers of a highly recurrent CYP4F22 variant, c.1303C>T; p.(His435Tyr). A 12Mb haplotype was reconstructed in all c.1303C>T carriers by genotyping ten microsatellite markers flanking the CYP4F22 gene. A prevalent 2.52Mb haplotype was observed among Spanish carrier patients suggesting a recent common ancestor. A smaller core haplotype of 1.2Mb was shared by Spanish and Moroccan families. Different approaches were applied to estimate the time to the most recent common ancestor (TMRCA) of carrier patients with Spanish origin. The age of the mutation was calculated by using DMLE and BDMC2. The algorithms estimated that the c.1303C>T variant arose approximately 2925 to 4925 years ago, while Spanish carrier families derived from a common ancestor who lived in the XIII century. The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry.

Published
2020
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7. Subcutaneous Fat Necrosis of the Newborn: Report of Five Cases

Author

Leire González Lara, Asunción Vicente Villa, María Mercedes Otero Rivas, Mariona Sunol Capella, Fredy Prada, and María Antonia González Enseñat

Subjects
hypercalcemia, metastatic calcifications, newborn, subcutaneous fat necrosis, Pediatrics, RJ1-570
Abstract

Subcutaneous fat necrosis of the newborn (SCFN) is a rare, self-limited disorder of the panniculus which appears in the first few weeks of life. SCFN generally follows an uncomplicated course. However, there are important complications for which the patient must be regularly monitored, including thrombocytopenia, hypoglycemia, hypertriglyceridemia, and most importantly, hypercalcemia. We report five infants with SCFN. All children were born at term. The onset of lesions was between 1 day and 20 days after birth. The back was the most frequent location. Birth hypoxia was the most frequent risk factor. Complications included hypercalcemia, hypoglycemia, and metastatic calcifications (disseminated subcutaneous calcifications, nephrocalcinosis, and myocardial calcifications). This study provides the first case of SCFN in the context of hypoxic encephalopathy and refractory septic shock that required extracorporeal membrane oxygenation (ECMO).

Published
2017
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10. Prevalence of Dystrophic Epidermolysis Bullosa in Spain: A Population-Based Study Using the 3-Source Capture–Recapture Method. Evidence of a Need for Improvement in Care

Author

Hernandez-Martín, A., Aranegui, B., Escámez, M.J., de Lucas, R., Vicente, A., Rodríguez-Díaz, E., Bernabeu-Wittel, J., Gonzalez-Hermosa, R., García-Patos, V., Ginarte, M., Mascaró, J.M., Jr., Corredera, C., Baselga, E., Santiago, J.L., Chaves, A., Román, C., Évole, M., Martin-Santiago, A., Torrelo, A., del Río, M., Feito, M., Gonzalez-Enseñat, M.A., Romero, G., Morcillo-Makow, E., Abaitua, I., and García-Doval, I.

Published
2013
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12. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Author

Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E., Amor, David J., Bisdorff, Annouk, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David, Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gérard, Marion, Kvarnung, Malin, Hanson-Kahn, Andrea Kwan, Hudgins, Louanne, Léauté-Labrèze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B., Boon, Laurence M., and Vikkula, Miikka

Published
2017
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13. Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain

Author

Hernández-Martín, Angela, Garcia-Doval, Ignacio, Aranegui, Beatriz, de Unamuno, Pablo, Rodríguez-Pazos, Laura, González-Enseñat, Maria-Antonia, Vicente, Asunción, Martín-Santiago, Ana, Garcia-Bravo, Begoña, Feito, Marta, Baselga, Eulalia, Círia, Sara, de Lucas, Raúl, Ginarte, Manuel, González-Sarmiento, Rogelio, and Torrelo, Antonio

Published
2012
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17. Familial drug reaction with eosinophilia and systemic symptoms syndrome

Author

Asunción Vicente-Villa, Xavier Fustà-Novell, María Antonia González-Enseñat, Daniel Morgado-Carrasco, and José M. Mascaró

Subjects
medicine.medical_specialty, Infectious Diseases, Text mining, business.industry, medicine, Dermatology, medicine.disease, business, Drug reaction with eosinophilia and systemic symptoms
Published
2021
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20. Linear IgA Bullous Dermatosis: A Series of 17 Cases

Author

L. Sobrevias Bonells, Bruno Ferrari, M.A. Vicente Villa, M.S. Díaz, María Antonia González-Enseñat, Massimiliano Greco, L. Morita, M. Larralde, and S. Sartori

Subjects
medicine.medical_specialty, Histology, Linear IgA bullous dermatosis, integumentary system, business.industry, Dermatology, Autoimmune hepatitis, Alopecia areata, Dapsone, medicine.disease, VACTERL association, Pathology and Forensic Medicine, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Vesiculobullous disease, Histopathology, business, Direct fluorescent antibody, medicine.drug
Abstract

Linear IgA bullous dermatosis is an acquired subepidermal immunoglobulin-mediated vesiculobullous disease. In this retrospective, observational, descriptive study, we describe the clinical characteristics, treatments, and outcomes of 17 patients with linear IgA bullous dermatosis. Two children had been vaccinated 2 weeks before the onset of symptoms, 2 had had bronco-obstructive respiratory symptoms, and 1 had received intravenous antibiotic therapy. We also observed an association with autoimmune hepatitis in one patient and alopecia areata in another. One boy had VACTERL association. Diagnosis was confirmed by histopathology and direct immunofluorescence. Sixteen patients were treated with dapsone, which was combined with oral corticosteroids in 8 cases and topical corticosteroids in two. Of note in this series was the occurrence of relapses in the perioral area coinciding with infections and vaccination, and the association between linear IgA bullous dermatosis and autoimmune hepatitis and VACTERL association.

Published
2019
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21. Dermatosis ampollar IgA lineal: serie de 17 casos

Author

M.A. Vicente Villa, S. Sartori, L. Sobrevias Bonells, M.S. Díaz, M. Larralde, María Antonia González-Enseñat, L. Morita, Massimiliano Greco, and Bruno Ferrari

Subjects
General Medicine
Abstract

Resumen La dermatosis ampollar IgA lineal es una enfermedad vesicoampollar subepidermica, adquirida, mediada por inmunoglobulinas. Presentamos nuestra serie con el objetivo de describir las caracteristicas clinicas, evolucion y tratamientos instaurados. Se realizo un estudio descriptivo, observacional retrospectivo. Se incluyeron 17 pacientes. Como antecedentes 2 ninos recibieron vacunas 2 semanas antes del inicio de los sintomas; en 2 casos la enfermedad estuvo precedida por cuadros respiratorios broncoobstructivos. Un paciente recibio antibioticoterapia endovenosa antes del inicio del cuadro. Hallamos asociacion con hepatitis autoinmune en un caso y con alopecia areata en otro. Un nino padecia asociacion VACTERL. El diagnostico se confirmo con histopatologia e inmunofluorescencia directa. Como tratamiento 16 pacientes recibieron dapsona, 8 de ellos asociaron corticoides orales y 2 esteroides topicos. Destacamos la presencia de rebrotes con compromiso perioral ante cuadros infecciosos e inmunizaciones, la asociacion con sindrome de VACTERL y con hepatitis autoinmune.

Published
2019
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25. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

Author

Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., and Thauvin-Robinet, C.

Published
2015
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29. RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

Author

Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J., Irvine, Alan D., Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R., Burrows, Patricia E., Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K., Wilson, Ashley, Gardiner, Carol A., Dwight, Yim, Lord, David J.E., Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria del C., Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, OʼDonnell, Brid, Bessis, Didier, Pyeritz, Reed E., Salhi, Aicha, Tan, Oon T., Wargon, Orli, Mulliken, John B., and Vikkula, Miikka

Published
2013
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36. Picture of the Month—Quiz Case

Author

Leal, Lorena, Vicente, María Asunción, Mascaró, Josep Maria, Jr, Bombí, Josep Antoni, and González-Enseñat, María Antonia

Published
2010

38. Tinea capitis treatment in Spain

Author

Jaén-Larrieu, Anouk, Vicente-Villa, Asunción, Aguilera-Pérez, Paula, González-Enseñat, María Antonia, Juncosa-Morros, Teresa, and Fumadó-Pérez, Victoria

Published
2009

41. Ultrasound findings of proliferative nodule arising in a congenital melanocytic nevus

Author

María Antonia González-Enseñat, Josep Malvehy, Priscila Giavedoni, Susana Puig, Asteria Albert, Asunción Vicente, Isabel Del Busto-Wilhelm, and Llucia Alos

Subjects
Nevus, Pigmented, Cancer Research, Pathology, medicine.medical_specialty, Skin Neoplasms, business.industry, Ultrasound, Nodule (medicine), Dermatology, medicine.disease, Oncology, Congenital melanocytic nevus, Humans, Medicine, medicine.symptom, business, Ultrasonography
Published
2020
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42. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

Author

Esperón-Moldes U, Ginarte-Val M, Rodríguez-Pazos L, Fachal L, Martín-Santiago A, Vicente-Villa MA, Jiménez-Gallo D, Guillén-Navarro E, Sampol LM, González-Enseñat MA, and Vega A

Abstract

Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multigene targeted NGS panel. From these, eight ARCI families (three of them with Moroccan origin) were found to carry five different CYP4F22 mutations, of which two were novel. Computational analysis showed that the mutations found were present in highly conserved residues of the protein and may affect its structure and function. Seven of the eight families were carriers of a highly recurrent CYP4F22 variant, c.1303C>T; p.(His435Tyr). A 12Mb haplotype was reconstructed in all c.1303C>T carriers by genotyping ten microsatellite markers flanking the CYP4F22 gene. A prevalent 2.52Mb haplotype was observed among Spanish carrier patients suggesting a recent common ancestor. A smaller core haplotype of 1.2Mb was shared by Spanish and Moroccan families. Different approaches were applied to estimate the time to the most recent common ancestor (TMRCA) of carrier patients with Spanish origin. The age of the mutation was calculated by using DMLE and BDMC2. The algorithms estimated that the c.1303C>T variant arose approximately 2925 to 4925 years ago, while Spanish carrier families derived from a common ancestor who lived in the XIII century. The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry.

Published
2020

44. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303CT founder mutation

Author

Encarna Guillén-Navarro, María Antonia González-Enseñat, Loreto Martorell Sampol, Uxia Esperón-Moldes, Asunción Vicente, David Jiménez-Gallo, Laura Fachal, Ana Martín-Santiago, Laura Rodríguez-Pazos, Manuel Ginarte-Val, and Ana Vega

Subjects
0301 basic medicine, Most recent common ancestor, Male, Models, Molecular, alelos, European People, Heredity, Spanish People, conformación de proteínas, Protein Conformation, humanos, Gene Identification and Analysis, Protein Structure Prediction, Biochemistry, 030207 dermatology & venereal diseases, 0302 clinical medicine, Cytochrome P-450 Enzyme System, Nitrocellulose, relación estructura-actividad, Congenital ichthyosis, Macromolecular Structure Analysis, Ethnicities, genes, Child, Hispanic People, mediana edad, Genetics, Sanger sequencing, Multidisciplinary, Ichthyosis, ictiosis, Applied Mathematics, Simulation and Modeling, sustitución de aminoácidos, Esters, Middle Aged, Founder Effect, Pedigree, Genetic Mapping, Chemistry, Phenotype, Deletion Mutation, Child, Preschool, Physical Sciences, symbols, Medicine, Microsatellite, fenotipo, Female, Algorithms, Research Article, Protein Structure, Science, Genes, Recessive, Biology, haplotipos, Research and Analysis Methods, 03 medical and health sciences, symbols.namesake, Structure-Activity Relationship, sistema enzimático del citocromo P-450, medicine, efecto fundador, Humans, Allele, mutación, Mutation Detection, Molecular Biology, Alleles, Haplotype, Chemical Compounds, Biology and Life Sciences, Proteins, linaje, medicine.disease, 030104 developmental biology, Amino Acid Substitution, Haplotypes, Spain, Mutation, People and Places, Population Groupings, Ichthyosis, Lamellar, Mathematics, Founder effect
Abstract

Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multi-gene targeted NGS panel. From these, eight ARCI families (three of them with Moroccan origin) were found to carry five different CYP4F22 mutations, of which two were novel. Computational analysis showed that the mutations found were present in highly conserved residues of the protein and may affect its structure and function. Seven of the eight families were carriers of a highly recurrent CYP4F22 variant, c.1303C>T; p.(His435Tyr). A 12Mb haplotype was reconstructed in all c.1303C>T carriers by genotyping ten microsatellite markers flanking the CYP4F22 gene. A prevalent 2.52Mb haplotype was observed among Spanish carrier patients suggesting a recent common ancestor. A smaller core haplotype of 1.2Mb was shared by Spanish and Moroccan families. Different approaches were applied to estimate the time to the most recent common ancestor (TMRCA) of carrier patients with Spanish origin. The age of the mutation was calculated by using DMLE and BDMC2. The algorithms estimated that the c.1303C>T variant arose approximately 2925 to 4925 years ago, while Spanish carrier families derived from a common ancestor who lived in the XIII century. The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry., This work was partially supported by Ramon Areces Foundation project (Rare Diseases 2013-056); by Spanish Instituto de Salud Carlos III (ISCIII) (INT15/00070, INT16/00154, INT17/00133) and by Xunta de Galicia (IN607B), given to A.V. U.E was supported by a predoctoral fellowship from Xunta de Galicia.

Published
2019

45. Letters to the Editor

Author

Fernández-Jorge, Beatriz, Vicente, Asunción, Zurinaga, Marilyn Medina, Capella, Mariona Suñol, De Sena De Caba, Lidia, and González-Enseñat, Antonia

Published
2007

47. Acute Percutaneous Lactic Acid Poisoning in a Child

Author

Ramírez, Manuela Esteban, Youseef, Wael Fasheh, Romero, Roser Garrido, Martínez, José María Quintillá, González-Enseñat, Maria Antonia, Vilaplana, Xavier Sanmartí, and Cubells, Carles Luaces

Published
2006

50. Subcutaneous Fat Necrosis of the Newborn: Report of Five Cases

Author

María Mercedes Otero Rivas, Leire González Lara, Fredy Prada, Asunción Vicente Villa, María Antonia González Enseñat, and Mariona Suñol Capella

Subjects
Male, medicine.medical_specialty, Term Birth, medicine.medical_treatment, Subcutaneous Fat, Context (language use), Hypoglycemia, Panniculus, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Risk Factors, newborn, 030225 pediatrics, subcutaneous fat necrosis, medicine, Extracorporeal membrane oxygenation, Humans, Pediatrics, Perinatology, and Child Health, Fat Necrosis, Hypertriglyceridemia, Septic shock, business.industry, Infant, Newborn, lcsh:RJ1-570, hypercalcemia, lcsh:Pediatrics, medicine.disease, Surgery, metastatic calcifications, Pediatrics, Perinatology and Child Health, Subcutaneous fat necrosis of the newborn, Female, Nephrocalcinosis, business
Abstract

Subcutaneous fat necrosis of the newborn (SCFN) is a rare, self-limited disorder of the panniculus which appears in the first few weeks of life. SCFN generally follows an uncomplicated course. However, there are important complications for which the patient must be regularly monitored, including thrombocytopenia, hypoglycemia, hypertriglyceridemia, and most importantly, hypercalcemia. We report five infants with SCFN. All children were born at term. The onset of lesions was between 1 day and 20 days after birth. The back was the most frequent location. Birth hypoxia was the most frequent risk factor. Complications included hypercalcemia, hypoglycemia, and metastatic calcifications (disseminated subcutaneous calcifications, nephrocalcinosis, and myocardial calcifications). This study provides the first case of SCFN in the context of hypoxic encephalopathy and refractory septic shock that required extracorporeal membrane oxygenation (ECMO).

Published
2017

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