103 results on '"A, García-Oguiza"'
Search Results
2. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients
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Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, and Elena Domínguez‐Garrido
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CREBBP ,epigenetics ,genotype–phenotype correlation ,Rubinstein‐Taybi syndrome ,Genetics ,QH426-470 - Abstract
Abstract Background Rubinstein‐Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and growth retardation. Clinical manifestations of RSTS are varied and overlap with other syndromes’ phenotype, which makes clinical diagnosis challenging. CREBBP is the major causative gene (55%–60% of the cases), whereas pathogenic variants found in EP300 represent the molecular cause in 8% of RSTS patients. A wide range of CREBBP pathogenic variants have been reported so far, including point mutations (30%–50%) and large deletions (10%). Methods The aim of this study was to characterize the CREBBP genetic variant spectrum in 39 RSTS patients using Multiplex Ligation‐dependent Probe Amplification and DNA sequencing techniques (Sanger and Trio‐based whole‐exome sequencing). Results We identified 15 intragenic deletions/duplications, ranging from one exon to the entire gene. As a whole, 25 de novo point variants were detected: 4 missense, 12 nonsense, 5 frameshift, and 4 splicing pathogenic variants. Three of them were classified as of uncertain significance and one of the patients carried two different variants. Conclusion Seventeen of the 40 genetic variants detected were reported for the first time in this work contributing, thus, to expand the molecular knowledge of this complex disorder.
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- 2019
- Full Text
- View/download PDF
3. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
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María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, and Elena Domínguez-Garrido
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RSTS ,EP300-Rubinstein-Taybi ,Broad thumbs ,Intellectual disability ,EP300-mutations ,EP300-RSTS-phenotype ,Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. Methods Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study. MLPA and panel-based NGS EP300 were performed. Results Eight patients were found to carry EP300 mutations. Phenotypic characteristics included: intellectual disability (generally mild), postnatal growth retardation, infant feeding problems, psychomotor and language delay and typical facial dysmorphisms (microcephaly, downslanting palpebral fissures, columella below the alae nasi, and prominent nose). Broad thumbs and/or halluces were common, but angulated thumbs were only found in two patients. We identified across the gene novel mutations, including large deletion, frameshift mutations, nonsense, missense and splicing alterations, confirming de novo origin in all but one (the mother, possibly underdiagnosed, has short and broad thumbs and had learning difficulties). Conclusions The clinical evaluation of our patients corroborates that clinical features in EP300 are less marked than in CREBBP patients although it is difficult to establish a genotype-phenotype correlation although. It is remarkable that these findings are observed in a RSTS-diagnosed cohort; some patients harbouring EP300 mutations could present a different phenotype. Broadening the knowledge about EP300-RSTS phenotype may contribute to improve the management of patients and the counselling to the families.
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- 2018
- Full Text
- View/download PDF
4. Síndrome de Aicardi: revisión bibliográfica
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Toledo Gotor, Cristina, primary, García Muro, Cristina, additional, De Pablo de las Heras, María, additional, Pasamón García, Sara, additional, Salvá Artega, Myriam, additional, and García Oguiza, Alberto, additional
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- 2023
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5. Síndrome de Aicardi: revisión bibliográfica
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Toledo Gotor, Cristina, García Muro, Cristina, de Pablo de las Heras, María, Salvá Artega, Myriam, García Oguiza, Alberto, Pasamón García, Sara, Toledo Gotor, Cristina, García Muro, Cristina, de Pablo de las Heras, María, Salvá Artega, Myriam, García Oguiza, Alberto, and Pasamón García, Sara
- Abstract
Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder's definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. we performed a Materials and methods: retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". since it was first Conclusions:described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities, Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave “Aicardi”, “agenesia del cuerpo calloso”, “espasmos infantiles” y “encefalopatía epiléptica”. Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz mujeres con alteraciones en neuroimagen.
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- 2023
6. Aicardi syndrome: a bibliographic review
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Cristina Toledo Gotor, Cristina García Muro, María De Pablo de las Heras, Sara Pasamón García, Myriam Salvá Artega, and Alberto García Oguiza
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trastorno del neurodesarrollo ,agenesia de cuerpo calloso ,Aicardi syndrome ,Síndrome de Aicardi ,General Engineering ,lagunas coriorretinianas ,chorioretinal lacunae ,agenesis of the corpus callosum ,neurodevelopmental disorder ,espasmos infantiles ,infantile spasms - Abstract
RESUMEN Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave “Aicardi”, “agenesia del cuerpo calloso”, “espasmos infantiles” y “encefalopatía epiléptica”. Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz en mujeres con alteraciones en neuroimagen. ABSTRACT Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder’s definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. Materials and methods: we performed a retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". Conclusions: since it was first described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities.
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- 2023
7. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006–2010
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López-Pisón, J., García-Jiménez, M.C., Monge-Galindo, L., Lafuente-Hidalgo, M., Pérez-Delgado, R., García-Oguiza, A., and Peña-Segura, J.L.
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- 2014
- Full Text
- View/download PDF
8. Nuestra experiencia en el diagnóstico etiológico del retraso global del desarrollo y discapacidad intelectual: 2006-2010
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López-Pisón, J., García-Jiménez, M.C., Monge-Galindo, L., Lafuente-Hidalgo, M., Pérez-Delgado, R., García-Oguiza, A., and Peña-Segura, J.L.
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- 2014
- Full Text
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9. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
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López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, and Domínguez-Garrido, Elena
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- 2018
- Full Text
- View/download PDF
10. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006–2010
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J. López-Pisón, M.C. García-Jiménez, L. Monge-Galindo, M. Lafuente-Hidalgo, R. Pérez-Delgado, A. García-Oguiza, and J.L. Peña-Segura
- Subjects
Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Introduction: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. Material and method: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. Results: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. Discussion: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors’) queries, and halt further diagnostic studies. Resumen: Introducción: El retraso global del desarrollo (RGD) y la discapacidad intelectual (DI) son motivos de consulta frecuentes en la práctica neuropediátrica. El rendimiento de los estudios diagnósticos en niños con RGD/DI varía ampliamente y, en consecuencia, no hay acuerdo universal respecto a los estudios que se deben realizar. Material y método: Revisamos nuestra experiencia en el diagnóstico etiológico de los niños con RGD/DI valorados en la consulta de Neuropediatría durante un periodo de 5 años: 2006-2010. Resultados: Durante el periodo de estudio fueron valorados 995 niños con RGD/DI. El diagnóstico etiológico fue establecido en 309 (31%) y no en 686 (69%), a pesar de múltiples estudios realizados. En 142 niños, el 46% de los casos con diagnóstico etiológico establecido, la causa es genética: 118 encefalopatías genéticas y 24 enfermedades metabólicas hereditarias. Nuestros datos indican que establecer un diagnóstico etiológico es más fácil cuando el RGD/DI está asociado a parálisis cerebral infantil, epilepsia, espasmos infantiles/síndrome de West o déficit visual, pero más difícil en casos de trastorno del espectro autista. Los estudios genéticos están incrementando los diagnósticos etiológicos y constituyéndose en el primer escalón de estudio. El microarray comparative genomic hybridisation es la prueba con mayor rentabilidad diagnóstica en el estudio de RGD/DI. Discusión: El coste-efectividad de los exámenes complementarios es aparentemente bajo en ausencia de orientación clínica. Incluso en ausencia de tratamiento, el diagnóstico etiológico es importante para establecer un consejo genético y posible diagnóstico prenatal, resolver cuestiones a padres y profesionales, y cesar la realización de más pruebas complementarias. Keywords: Global developmental delay, Intellectual disability, Microarray comparative genomic hybridisation, Palabras clave: Retraso psicomotor global, Discapacidad intelectual, Diagnóstico etiológico, Microarray comparative genomic hybridisation
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- 2014
- Full Text
- View/download PDF
11. Nuestra experiencia en el diagnóstico etiológico del retraso global del desarrollo y discapacidad intelectual: 2006-2010
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J. López-Pisón, M.C. García-Jiménez, L. Monge-Galindo, M. Lafuente-Hidalgo, R. Pérez-Delgado, A. García-Oguiza, and J.L. Peña-Segura
- Subjects
Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Resumen: Introducción: El retraso global del desarrollo (RGD) y la discapacidad intelectual (DI) son motivos de consulta frecuentes en la práctica neuropediátrica. El rendimiento de los estudios diagnósticos en niños con RGD/DI varía ampliamente y, en consecuencia, no hay acuerdo universal respecto a los estudios que se deben realizar. Material y método: Revisamos nuestra experiencia en el diagnóstico etiológico de los niños con RGD/DI valorados en la consulta de Neuropediatría durante un periodo de 5 años: 2006-2010. Resultados: Durante el periodo de estudio fueron valorados 995 niños con RGD/DI. El diagnóstico etiológico fue establecido en 309 (31%) y no en 686 (69%), a pesar de múltiples estudios realizados. En 142 niños, el 46% de los casos con diagnóstico etiológico establecido, la causa es genética: 118 encefalopatías genéticas y 24 enfermedades metabólicas hereditarias. Nuestros datos indican que establecer un diagnóstico etiológico es más fácil cuando el RGD/DI está asociado a parálisis cerebral infantil, epilepsia, espasmos infantiles/síndrome de West o déficit visual, pero más difícil en casos de trastorno del espectro autista. Los estudios genéticos están incrementando los diagnósticos etiológicos y constituyéndose en el primer escalón de estudio. El microarray comparative genomic hybridisation es la prueba con mayor rentabilidad diagnóstica en el estudio de RGD/DI. Discusión: El coste-efectividad de los exámenes complementarios es aparentemente bajo en ausencia de orientación clínica. Incluso en ausencia de tratamiento, el diagnóstico etiológico es importante para establecer un consejo genético y posible diagnóstico prenatal, resolver cuestiones a padres y profesionales, y cesar la realización de más pruebas complementarias. Abstract: Introduction: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. Material and method: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. Results: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. Discussion: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors’) queries, and halt further diagnostic studies. Palabras clave: Retraso psicomotor global, Discapacidad intelectual, Diagnóstico etiológico, Microarray comparative genomic hybridisation, Keywords: Global developmental delay, Intellectual disability, Microarray comparative genomic hybridisation
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- 2014
- Full Text
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12. Phenotypic comparison of patients affected with DeSanto‐Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC
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Toledo‐Gotor, Cristina, primary, García‐Muro, Cristina, additional, García‐Oguiza, Alberto, additional, Poch‐Olivé, Mª. Luisa, additional, Ruiz‐del Prado, Mª. Yolanda, additional, and Domínguez‐Garrido, Elena, additional
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- 2022
- Full Text
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13. Estudio molecular en niños con síndrome Rubinstein-Taybi: relación fenotipo-genotipo
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García Oguiza, Alberto, Domínguez Garrido, Elena, Arriola Pereda, Gema, Universidad de Alcalá. Departamento de Biología de Sistemas, and Universidad de Alcalá. Programa de Doctorado en Ciencias de la Salud
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Medicina ,Pediatría ,Medicine ,Teratología ,Genética Clínica - Abstract
El síndrome de Rubinstein-Taybi (SRT) es una enfermedad de causa genética con baja incidencia. Clínicamente presenta retraso en crecimiento y desarrollo, rasgos dismórficos faciales con sonrisa característica, manos y pies con primeros dedos anchos, así como discapacidad intelectual, entre otras. Se han descrito dos genes en relación con el SRT: el gen CREBBP en el cromosoma 16p13.3 (un 60% de los casos) y el gen EP300 en 22q13 (un 5% de los casos), siendo la causa desconocida en aproximadamente un 35%. La mayoría de los casos son de novo. Identificar mutaciones causantes de enfermedades genéticas permite confirmar el diagnóstico clínico, con su consecuente orientación en pronóstico y tratamiento, así como conocer rutas biológicas y posibles dianas terapéuticas. Las técnicas de secuenciación masiva podrían explicar la causa de este síndrome en los casos sin mutación de los genes descritos. MATERIAL Y MÉTODO: Se analizó la relación entre fenotipo y genotipo de 36 casos diagnosticados clínicamente de SRT, tras el estudio de los genes CREBBP y EP300 y en aquellos con resultado negativo, se buscaron otros genes candidatos con estudio de exoma completo. Se recogió iconografía y un cuestionario exhaustivo de cada caso para describir su fenotipo de forma pormenorizada. La muestra se subdividió en grupos según gen, tipo de mutación y exón afectado. Se describieron y compararon los distintos subgrupos con otras series publicadas. Previo al resultado del estudio genético se clasificó cada caso como SRT o no SRT, basándose en la aproximación clínica-fenotípica. Se trató de establecer un diagnóstico molecular preciso de cada caso. RESULTADOS: 27 casos presentaron mutaciones en el gen CREBBP (9 deleciones y 18 mutaciones puntuales), 3 casos mutaciones puntuales en EP300, en 4 casos se confirmó otro diagnóstico genético distinto de SRT y en 2 casos no se encontró mutación que justificara la sintomatología. Los fenotipos clínicos entre los casos con afectación de CREBBP, con independencia del tipo de mutación o su localización, no mostraron diferencias reseñables. Los casos con mutación en EP300 mostraron un fenotipo menos grave que los CREBBP, aunque con variabilidad entre ellos. Se clasificó adecuadamente previo a estudio genético a todos los pacientes sin SRT y a 23 de los 27 afectos de mutaciones en CREBBP. No se clasificó clínicamente como SRT ninguno de los tres casos con mutaciones en EP300. CONCLUSIONES: No hemos encontrado una relación clara entre el tipo de mutación y el fenotipo clínico, ni por el gen mutado, tipo o localización de la mutación, lo cual concuerda con la literatura revisada. Hemos realizado estudio de exoma en los dos casos en los que no hallamos mutaciones asociadas a SRT, sin encontrar genes candidatos a su fenotipo. Previo al estudio genético, se clasificó acertadamente a los casos sin SRT, pero los casos con mutación en EP300 fueron erróneamente clasificados como no SRT, aun siéndolo. Se estableció un diagnóstico molecular definitivo en todos los casos a excepción de dos, con estudio negativo, incluido secuenciación de exoma.
- Published
- 2020
14. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
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Inmaculada García-Cobaleda, García-Oguiza A, María López, Sixto García-Miñaur, Elena Domínguez-Garrido, Judith Armstrong, Verónica Seidel, and Fernando Santos-Simarro
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Male ,0301 basic medicine ,Microcephaly ,Pediatrics ,Intellectual disability ,030105 genetics & heredity ,Cohort Studies ,Neurodevelopmental disorder ,Medicine ,Missense mutation ,Child ,Frameshift Mutation ,Genetics (clinical) ,Sequence Deletion ,Rubinstein-Taybi Syndrome ,EP300 ,EP300-Rubinstein-Taybi ,CREB-Binding Protein ,Phenotype ,Codon, Nonsense ,Child, Preschool ,Broad thumbs ,Female ,Research Article ,medicine.medical_specialty ,lcsh:Internal medicine ,Adolescent ,lcsh:QH426-470 ,RNA Splicing ,Mutation, Missense ,EP300-mutations ,Frameshift mutation ,Young Adult ,03 medical and health sciences ,RSTS-2 ,Genetics ,Humans ,Genetic Testing ,Multiplex ligation-dependent probe amplification ,EP300-RSTS-phenotype ,lcsh:RC31-1245 ,Genetic Association Studies ,business.industry ,Infant ,medicine.disease ,Human genetics ,RSTS ,lcsh:Genetics ,business ,E1A-Associated p300 Protein - Abstract
Background Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. Methods Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study. MLPA and panel-based NGS EP300 were performed. Results Eight patients were found to carry EP300 mutations. Phenotypic characteristics included: intellectual disability (generally mild), postnatal growth retardation, infant feeding problems, psychomotor and language delay and typical facial dysmorphisms (microcephaly, downslanting palpebral fissures, columella below the alae nasi, and prominent nose). Broad thumbs and/or halluces were common, but angulated thumbs were only found in two patients. We identified across the gene novel mutations, including large deletion, frameshift mutations, nonsense, missense and splicing alterations, confirming de novo origin in all but one (the mother, possibly underdiagnosed, has short and broad thumbs and had learning difficulties). Conclusions The clinical evaluation of our patients corroborates that clinical features in EP300 are less marked than in CREBBP patients although it is difficult to establish a genotype-phenotype correlation although. It is remarkable that these findings are observed in a RSTS-diagnosed cohort; some patients harbouring EP300 mutations could present a different phenotype. Broadening the knowledge about EP300-RSTS phenotype may contribute to improve the management of patients and the counselling to the families.
- Published
- 2018
15. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
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Verónica Seidel, Fernando Santos-Simarro, Judith Armstrong, Maria Antonia Ramos‐Arroyo, María López, Mercé Pineda Marfa, Mar O'Callaghan, Virginia Pérez-Grijalba, Jose María Mesa‐Latorre, García-Oguiza A, Elena Domínguez-Garrido, and Sixto García-Miñaur
- Subjects
Adult ,Male ,0301 basic medicine ,Adolescent ,Genotype ,lcsh:QH426-470 ,030105 genetics & heredity ,Biology ,DNA sequencing ,Frameshift mutation ,Young Adult ,03 medical and health sciences ,Exon ,Genetics ,medicine ,Humans ,Missense mutation ,Child ,EP300 ,Molecular Biology ,Gene ,Genetic Association Studies ,Genetics (clinical) ,Rubinstein-Taybi Syndrome ,epigenetics ,Rubinstein–Taybi syndrome ,Point mutation ,Infant ,Original Articles ,genotype–phenotype correlation ,CREBBP ,medicine.disease ,CREB-Binding Protein ,Rubinstein‐Taybi syndrome ,lcsh:Genetics ,Phenotype ,030104 developmental biology ,Child, Preschool ,Mutation ,Female ,Original Article ,E1A-Associated p300 Protein - Abstract
Background Rubinstein‐Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and growth retardation. Clinical manifestations of RSTS are varied and overlap with other syndromes’ phenotype, which makes clinical diagnosis challenging. CREBBP is the major causative gene (55%–60% of the cases), whereas pathogenic variants found in EP300 represent the molecular cause in 8% of RSTS patients. A wide range of CREBBP pathogenic variants have been reported so far, including point mutations (30%–50%) and large deletions (10%). Methods The aim of this study was to characterize the CREBBP genetic variant spectrum in 39 RSTS patients using Multiplex Ligation‐dependent Probe Amplification and DNA sequencing techniques (Sanger and Trio‐based whole‐exome sequencing). Results We identified 15 intragenic deletions/duplications, ranging from one exon to the entire gene. As a whole, 25 de novo point variants were detected: 4 missense, 12 nonsense, 5 frameshift, and 4 splicing pathogenic variants. Three of them were classified as of uncertain significance and one of the patients carried two different variants. Conclusion Seventeen of the 40 genetic variants detected were reported for the first time in this work contributing, thus, to expand the molecular knowledge of this complex disorder.
- Published
- 2019
16. New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients
- Author
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Pérez-Grijalba V, García-Oguiza A, López M, Armstrong-Moron J, García-Miñaur S, Mesa-Latorre JM, O'Callaghan-Gordo M, Pineda M, Ramos-Arroyo MA, Santos-Simarro F, Seidel V, and Domínguez-Garrido E
- Subjects
genotype-phenotype correlation ,epigenetics ,CREBBP ,Rubinstein-Taybi syndrome - Abstract
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and growth retardation. Clinical manifestations of RSTS are varied and overlap with other syndromes' phenotype, which makes clinical diagnosis challenging. CREBBP is the major causative gene (55%-60% of the cases), whereas pathogenic variants found in EP300 represent the molecular cause in 8% of RSTS patients. A wide range of CREBBP pathogenic variants have been reported so far, including point mutations (30%-50%) and large deletions (10%). METHODS: The aim of this study was to characterize the CREBBP genetic variant spectrum in 39 RSTS patients using Multiplex Ligation-dependent Probe Amplification and DNA sequencing techniques (Sanger and Trio-based whole-exome sequencing). RESULTS: We identified 15 intragenic deletions/duplications, ranging from one exon to the entire gene. As a whole, 25 de novo point variants were detected: 4 missense, 12 nonsense, 5 frameshift, and 4 splicing pathogenic variants. Three of them were classified as of uncertain significance and one of the patients carried two different variants. CONCLUSION: Seventeen of the 40 genetic variants detected were reported for the first time in this work contributing, thus, to expand the molecular knowledge of this complex disorder.
- Published
- 2019
17. Lactante con encefalopatía aguda
- Author
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Úbeda Trujillo, R., Tormo Sempere, Y., Pérez Delgado, R., Castejón Ponce, Esperanza, García Íñiguez, J.P., García Oguiza, A., Olloqui Escalona, A., Úbeda Trujillo, R., Tormo Sempere, Y., Pérez Delgado, R., Castejón Ponce, Esperanza, García Íñiguez, J.P., García Oguiza, A., and Olloqui Escalona, A.
- Published
- 2019
18. Casi ahogamiento…¡Y no lo cuento!
- Author
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Toledo Gotor, C., García Muro, C., Ibiricu Lecumberri, A., Kortabarria Elguero, M., Fernández Vallejo, M. Beatriz, García Oguiza, A., Toledo Gotor, C., García Muro, C., Ibiricu Lecumberri, A., Kortabarria Elguero, M., Fernández Vallejo, M. Beatriz, and García Oguiza, A.
- Published
- 2018
19. Nuestra experiencia en el diagnóstico etiológico del retraso global del desarrollo y discapacidad intelectual: 2006-2010
- Author
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Javier López-Pisón, M. Lafuente-Hidalgo, José Luis Peña-Segura, L. Monge-Galindo, Pérez-Delgado R, García-Oguiza A, and M.C. García-Jiménez
- Subjects
Clinical Neurology ,Neurology (clinical) ,lcsh:Neurology. Diseases of the nervous system ,lcsh:RC346-429 - Abstract
Resumen: Introducción: El retraso global del desarrollo (RGD) y la discapacidad intelectual (DI) son motivos de consulta frecuentes en la práctica neuropediátrica. El rendimiento de los estudios diagnósticos en niños con RGD/DI varía ampliamente y, en consecuencia, no hay acuerdo universal respecto a los estudios que se deben realizar. Material y método: Revisamos nuestra experiencia en el diagnóstico etiológico de los niños con RGD/DI valorados en la consulta de Neuropediatría durante un periodo de 5 años: 2006-2010. Resultados: Durante el periodo de estudio fueron valorados 995 niños con RGD/DI. El diagnóstico etiológico fue establecido en 309 (31%) y no en 686 (69%), a pesar de múltiples estudios realizados. En 142 niños, el 46% de los casos con diagnóstico etiológico establecido, la causa es genética: 118 encefalopatías genéticas y 24 enfermedades metabólicas hereditarias. Nuestros datos indican que establecer un diagnóstico etiológico es más fácil cuando el RGD/DI está asociado a parálisis cerebral infantil, epilepsia, espasmos infantiles/síndrome de West o déficit visual, pero más difícil en casos de trastorno del espectro autista. Los estudios genéticos están incrementando los diagnósticos etiológicos y constituyéndose en el primer escalón de estudio. El microarray comparative genomic hybridisation es la prueba con mayor rentabilidad diagnóstica en el estudio de RGD/DI. Discusión: El coste-efectividad de los exámenes complementarios es aparentemente bajo en ausencia de orientación clínica. Incluso en ausencia de tratamiento, el diagnóstico etiológico es importante para establecer un consejo genético y posible diagnóstico prenatal, resolver cuestiones a padres y profesionales, y cesar la realización de más pruebas complementarias. Abstract: Introduction: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. Material and method: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. Results: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. Discussion: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors’) queries, and halt further diagnostic studies. Palabras clave: Retraso psicomotor global, Discapacidad intelectual, Diagnóstico etiológico, Microarray comparative genomic hybridisation, Keywords: Global developmental delay, Intellectual disability, Microarray comparative genomic hybridisation
- Published
- 2014
20. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006–2010
- Author
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M. Lafuente-Hidalgo, L. Monge-Galindo, Pérez-Delgado R, José Luis Peña-Segura, Javier López-Pisón, García-Oguiza A, and M.C. García-Jiménez
- Subjects
Pediatrics ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Genetic counseling ,Prenatal diagnosis ,medicine.disease ,lcsh:RC346-429 ,Intellectual disability ,Etiology ,Medicine ,Autism ,Global developmental delay ,Medical diagnosis ,business ,lcsh:Neurology. Diseases of the nervous system ,Genetic testing - Abstract
Introduction: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. Material and method: We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010. Results: During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID. Discussion: The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors’) queries, and halt further diagnostic studies. Resumen: Introducción: El retraso global del desarrollo (RGD) y la discapacidad intelectual (DI) son motivos de consulta frecuentes en la práctica neuropediátrica. El rendimiento de los estudios diagnósticos en niños con RGD/DI varía ampliamente y, en consecuencia, no hay acuerdo universal respecto a los estudios que se deben realizar. Material y método: Revisamos nuestra experiencia en el diagnóstico etiológico de los niños con RGD/DI valorados en la consulta de Neuropediatría durante un periodo de 5 años: 2006-2010. Resultados: Durante el periodo de estudio fueron valorados 995 niños con RGD/DI. El diagnóstico etiológico fue establecido en 309 (31%) y no en 686 (69%), a pesar de múltiples estudios realizados. En 142 niños, el 46% de los casos con diagnóstico etiológico establecido, la causa es genética: 118 encefalopatías genéticas y 24 enfermedades metabólicas hereditarias. Nuestros datos indican que establecer un diagnóstico etiológico es más fácil cuando el RGD/DI está asociado a parálisis cerebral infantil, epilepsia, espasmos infantiles/síndrome de West o déficit visual, pero más difícil en casos de trastorno del espectro autista. Los estudios genéticos están incrementando los diagnósticos etiológicos y constituyéndose en el primer escalón de estudio. El microarray comparative genomic hybridisation es la prueba con mayor rentabilidad diagnóstica en el estudio de RGD/DI. Discusión: El coste-efectividad de los exámenes complementarios es aparentemente bajo en ausencia de orientación clínica. Incluso en ausencia de tratamiento, el diagnóstico etiológico es importante para establecer un consejo genético y posible diagnóstico prenatal, resolver cuestiones a padres y profesionales, y cesar la realización de más pruebas complementarias. Keywords: Global developmental delay, Intellectual disability, Microarray comparative genomic hybridisation, Palabras clave: Retraso psicomotor global, Discapacidad intelectual, Diagnóstico etiológico, Microarray comparative genomic hybridisation
- Published
- 2014
21. Accidente cerebrovascular pediátrico secundario a displasia fibromuscular
- Author
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M. Lafuente Hidalgo, S. Guelbenzu, R. Pérez Delgado, A. Olloqui Escalona, N. Clavero Montañés, J.L. Peña Segura, A. García Oguiza, Z. Galve Pradel, and J. López Pisón
- Subjects
Stroke ,Arteriography ,Infancy ,Pediatrics, Perinatology and Child Health ,Fibromuscular dysplasia ,Pediatrics ,RJ1-570 ,String of beads - Abstract
Resumen: Presentamos el caso de un varón de 13 años diagnosticado de displasia fibromuscular (DFM) por estudio angiográfico, con imagen “arrosariada” de la carótida interna, tras presentar 2 ictus isquémicos en 9 días. Se decidió tratamiento conservador con ácido acetilsalicílico en dosis antiagregantes. Veinte meses después, la evolución clínica es favorable, sin que haya presentado nuevos episodios.La DFM es una causa muy poco frecuente de ictus en la infancia. Se conoce poco acerca de su etiología. A pesar de tratarse de una entidad habitualmente asintomática, debemos pensar en su existencia ante ictus repetidos o no explicables por otra causa. Su pronóstico y tratamiento son controvertidos debido al escaso número de pacientes en edad pediátrica con esta enfermedad. Abstract: We present the case of a 13 year-old patient diagnosed with fibromuscular dysplasia (FMD) by angiographic study, with “string of beads” image of internal carotid, after undergoing two ischemic strokes in nine days. Conservative treatment with acetylsalicylic acid at antiaggregant doses was decided. Twenty months later the clinical progress is favorable without presenting any new episodes. FMD is a very uncommon cause of stroke in childhood. Little is known about its etiology. In spite of it usually being an asymptomatic disease, it must be considered in cases of repeated or inexplicable strokes. Its prognosis and treatment is controversial, due to the limited number of pediatric patients with this pathology.
- Published
- 2009
22. Síndrome de apnea central del sueño como primera manifestación de malformación de Chiari tipo I
- Author
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I. Sáenz Moreno, A. Marco Rived, A. García Oguiza, V. Jiménez Escobar, S. Miralbés Terraza, J. López Pisón, and J.L. Peña Segura
- Subjects
Sleep apnea syndrome ,Type I Chiari malformation ,business.industry ,Pediatrics, Perinatology and Child Health ,Medicine ,Central apnea ,Congenital disease ,business ,Pediatrics ,Humanities ,RJ1-570 - Abstract
Introducción: La malformación de Chiari tipo I consiste en el descenso de las amígdalas cerebelosas a través del foramen magno. Con frecuencia es asintomática, pero puede presentar clínica por afectación de cerebelo, troncoencéfalo, porción superior de la médula cervical y pares craneales bajos. Objetivo: Se presenta nuestra experiencia de 16 años con 16 casos de malformación de Chiari tipo I; sólo en 2 existen síntomas atribuibles a la anomalía de Chiari tipo I, y en una de ellas la primera manifestación clínica consistió en un trastorno respiratorio durante el sueño. Caso clínico: Niña de 15 años con tos crónica diaria, agravada con el ejercicio, de 5 años de duración. La madre observaba desde hacía 1 año que al dormir la niña roncaba y realizaba repetidamente pausas de apnea. Tenía cefaleas ocasionales e hipersomnolencia diurna. Las exploraciones física y neurológica fueron normales, salvo ausencia de reflejo nauseoso bilateral. El estudio polisomnográfico nocturno evidenció un patrón seudoperiódico con alternancia de pausas de apnea con ciclos de respiraciones profundas, con graves repercusiones gasométricas y sobre la frecuencia cardíaca. La resonancia magnética mostró anomalía de Chiari tipo I. La ventilación mecánica no invasiva supuso una mejoría clínica y gasométrica en la paciente. Discusión: La descompresión quirúrgica es discutida. Está indicada de forma precoz, antes de que aparezca daño neurológico irreversible. Se asocia con una reducción significativa en el número de apneas centrales y microdespertamientos. Se recomienda en casos sintomáticos o en casos con progression radiológica de la anomalía de Chiari o de la siringomielia asociada. : Introduction: Type I Chiari malformation consists on the caudal displacement of cerebellar tonsils through the foramen magnum. It is often asymptomatic, although it may display symptoms as a result of cerebellum, brainstem, high cervical spinal cord or the lower cranial nerve, involvement. Objective: We report our experience over the last 16 years. We have identified 16 patients with type I Chiari malformation. Only 2 cases showed common type I Chiari symptoms and just one had respiratory disorder as the first clinical sign. Clinical case: A 15 year old girl presented with a 5 years history of chronic daily cough aggravated by the exercise. Snoring and sleep apnea had been noted by her mother for 1 year. The girl eventually suffered from migraine and diurnal hypersomnolence. The physical and neurological examination was normal with the only exception being the absence of bilateral nauseous reflex. A nocturnal polysomnography study demonstrated a pseudoperiodic pattern with apnea pauses associated to cycles of deep breathing, resulting in severe gasometric repercussion and bradycardia. Magnetic resonance imaging of the brain showed Chiari I malformation. Non-invasive mechanical ventilation treatment significantly improved the clinical symptoms and gasometric analysis. Discussion: Surgical posterior fossa decompression is discussed. Early decompression before appearance of irreversible neurological damage is recommended. It is associated with a significant reduction in the number of central apneas and sleep arousals. Surgical intervention is recommended in symptomatic patients and in cases of radiographic Chiari malformation or syrinx progression.
- Published
- 2008
23. An ataxia of not so obvious cause
- Author
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García-Oguiza, A., primary, Domínguez-Garrido, E., additional, Toledo-Gotor, C., additional, Garcia-Muro, C., additional, Lopez, M., additional, Olloqui-Escalona, A., additional, Riaño-Mendez, B., additional, Esteban-Díez, I., additional, Sanchez-Puentes, J.M., additional, Saenz-Moreno, I., additional, and Jimenez-Escobar, V., additional
- Published
- 2017
- Full Text
- View/download PDF
24. A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency
- Author
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Maria Luisa Poch-Olive, Elena Domínguez-Garrido, García-Oguiza A, Jana Aguirre-Lamban, Paula Santibáñez, María López, and Cristina Cervera-Acedo
- Subjects
Genetics ,medicine.medical_specialty ,Creatinine ,Mutation ,Motor dysfunction ,business.industry ,Urinary system ,Creatine transport ,Creatine ,medicine.disease_cause ,Biochemistry ,chemistry.chemical_compound ,Endocrinology ,chemistry ,Internal medicine ,Creatine transporter deficiency ,Data Report ,medicine ,business ,Molecular Biology ,Novel mutation - Abstract
Creatine transporter (CT) deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. We describe a clinical, biochemical and molecular examination of a child with X-linked cerebral creatine deficiency. Increased urinary creatine/creatinine ratio, abnormal brain proton magnetic resonance spectroscopy and reduced creatine transport confirmed the clinical diagnosis. SLC6A8 analysis revealed a novel mutation that was hemizygous in the child and not detected in his mother. CT deficiency should be considered in children, especially males, with mental retardation.
- Published
- 2015
25. No todo es epilepsia
- Author
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Toledo Gotor, C., García Muro, C., Jiménez Escobar, Verónica, Fernández Vallejo, M. Beatriz, García Oguiza, A., Poch Olivé, María Luisa, Toledo Gotor, C., García Muro, C., Jiménez Escobar, Verónica, Fernández Vallejo, M. Beatriz, García Oguiza, A., and Poch Olivé, María Luisa
- Abstract
Los eventos paroxísticos son un motivo muy frecuente de consulta en pediatría. Se diferencian dos grandes grupos: epilepsia (1% de la población pediátrica) y trastornos paroxísticos no epilépticos. Hasta un 20% de este segundo grupo es remitido a consultas especializadas para descartar epilepsia de difícil control
- Published
- 2016
26. Encefalopatía desmielinizante aguda
- Author
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Sanchez Puentes, J.M., García Fernández, L., Portal Gil, E., Poch Olivé, María Luisa, García Oguiza, A., Sanchez Puentes, J.M., García Fernández, L., Portal Gil, E., Poch Olivé, María Luisa, and García Oguiza, A.
- Published
- 2016
27. An ataxia of not so obvious cause
- Author
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M. Lopez, C. Garcia-Muro, J.M. Sanchez-Puentes, A. García-Oguiza, B. Riaño-Mendez, E. Domínguez-Garrido, I. Esteban-Díez, I. Saenz-Moreno, C. Toledo-Gotor, A. Olloqui-Escalona, and V. Jimenez-Escobar
- Subjects
medicine.medical_specialty ,Ataxia ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,Neurology (clinical) ,General Medicine ,medicine.symptom ,business ,Dermatology - Published
- 2017
28. [Gorlin syndrome in the paediatric age]
- Author
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P, Roncalés-Samanes, J L, Peña-Segura, R, Fernando-Martínez, C, Fuertes-Rodrigo, A, García-Oguiza, and J, López-Pisón
- Subjects
Adult ,Maxillary Neoplasms ,Patched Receptors ,Heterozygote ,Hypertelorism ,Developmental Disabilities ,Basal Cell Nevus Syndrome ,Receptors, Cell Surface ,Exons ,Megalencephaly ,Patched-1 Receptor ,Child, Preschool ,Intellectual Disability ,Humans ,Female ,Sequence Deletion - Abstract
Gorlin syndrome (GS) is a disorder transmitted by dominant autosomal inheritance associated to mutations in PTCH1, the main characteristic of which is the appearance of basal cell carcinomas, together with skeletal abnormalities, odontogenic keratocysts and intracranial tumours.A girl aged 3 years and 10 months, who was admitted due to acute ataxia. Some of the more striking features in the patient's personal history include psychomotor retardation and a family history of suspected GS in the mother as a result of a maxillary cyst. An examination revealed macrocephaly with a prominent forehead and hypertelorism, as well as nevus. A genetic study for GS was requested, in which mutation c.930delC was detected in exon 6 of the PTCH1 gene in heterozygosis.In GS there is an increase in the likelihood of developing basal cell carcinomas and strict dermatological monitoring is necessary. A clinical neurological follow-up and also magnetic resonance imaging scans are needed for an early diagnosis of intracranial tumours, especially in the case of medulloblastomas. Odontogenic keratocysts, other skin disorders, and cardiac and ovarian fibromas are characteristic, as are skeletal abnormalities, which require regular clinical and neuroimaging controls and treatment if needed, but radiation must be avoided. GS is a rare disorder, but it must be suspected in the presence of characteristic alterations. It requires a multidisciplinary follow-up, and it is also necessary to establish a protocol on how to act so as to allow early diagnosis and treatment of the potentially severe complications deriving from this disease.Sindrome de Gorlin en la edad pediatrica.Introduccion. El sindrome de Gorlin (SG) es un trastorno de herencia autosomica dominante asociado a mutaciones en el gen PTCH1, cuya principal caracteristica es la aparicion de carcinomas basocelulares, unido a anomalias esqueleticas, queratoquistes odontogenicos y tumores intracraneales. Caso clinico. Niña de 3 años y 10 meses, ingresada por ataxia aguda. Destacan como antecedentes personales retraso psicomotor y como antecedentes familiares la sospecha de SG en la madre por quiste maxilar. En la exploracion, se aprecia macrocefalia con frente prominente e hipertelorismo, asi como nevo. Se solicita estudio genetico de SG, en el que se detecta la mutacion c.930delC en el exon 6 del gen PTCH1 en heterocigosis. Conclusiones. En el SG hay un aumento de la susceptibilidad al desarrollo de carcinomas basocelulares y es preciso un estrecho control dermatologico. Es necesario un seguimiento neurologico clinico y de imagen, mediante resonancia magnetica, para el diagnostico precoz de tumores intracraneales, fundamentalmente el meduloblastoma. Tambien son caracteristicos los queratoquistes odontogenicos, otras alteraciones cutaneas, fibromas cardiacos y ovaricos, asi como anomalias esqueleticas, que precisan controles clinicos y de imagen periodicos, y tratamiento en caso de ser necesarios, pero debe evitarse la radiacion. El SG es un trastorno poco frecuente, que se debe sospechar ante la presencia de alteraciones caracteristicas. Es necesario un seguimiento multidisciplinar, asi como establecer un protocolo de actuacion, para un temprano diagnostico y tratamiento de las complicaciones potencialmente graves derivadas de esta enfermedad.
- Published
- 2014
29. Aproximación etiológica a la hipoglucemia en urgencias: revisión de un protocolo
- Author
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Inmaculada García Jiménez, Carmen Campos Calleja, José Luis Peña Segura, Juan Ramón García Mata, Antonio Vázquez, Raquel Pérez Delgado, Ana Soria Marzo, Alberto García Oguiza, Javier López Pisón, and Miguel Lafuente Hidalgo
- Subjects
Health Policy ,media_common.quotation_subject ,General Medicine ,Art ,Humanities ,media_common - Abstract
Raquel Perez Delgadoa, Ana Soria Marzob, Inmaculada Garcia Jimenezc, Carmen Campos Callejac, Juan Ramon Garcia Matad, Miguel Lafuente Hidalgob, Alberto Garcia Oguizae, Javier Lopez Pisonf, Jose Luis Pena Segurae y Antonio Baldellou Vazquezb aUnidad de Neuropediatria. Unidad de Urgencias. Hospital Universitario Miguel Servet. Zaragoza. Espana. bUnidad de Metabolismo. Hospital Universitario Miguel Servet. Zaragoza. Espana. cUnidad de Metabolismo. Grupo de Calidad de Urgencias Pediatricas. Unidad de Urgencias. Hospital Universitario Miguel Servet. Zaragoza. Espana. dUnidad de Calidad Asistencial (UCA). Hospital Universitario Miguel Servet. Zaragoza. Espana. eUnidad de Neuropediatria. Hospital Universitario Miguel Servet. Zaragoza. Espana. fUnidad de Neuropediatria. Grupo de Calidad de Urgencias Pediatricas. Hospital Universitario Miguel Servet. Zaragoza. Espana.
- Published
- 2008
30. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010
- Author
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J, López-Pisón, M C, García-Jiménez, L, Monge-Galindo, M, Lafuente-Hidalgo, R, Pérez-Delgado, A, García-Oguiza, and J L, Peña-Segura
- Subjects
Comparative Genomic Hybridization ,Adolescent ,Neurology ,Child, Preschool ,Developmental Disabilities ,Intellectual Disability ,Humans ,Genetic Testing ,Child ,Retrospective Studies - Abstract
Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed.We review our experience with determining aetiological diagnoses for children with GDD/ID who were monitored by the paediatric neurology unit over the 5-year period between 2006 and 2010.During the study period, 995 children with GDD/ID were monitored. An aetiological diagnosis was established for 309 patients (31%), but not in 686 (69%), despite completing numerous tests. A genetic cause was identified in 142 cases (46% of the total aetiologies established), broken down as 118 cases of genetic encephalopathy and 24 of metabolic hereditary diseases. Our data seem to indicate that diagnosis is easier when GDD/ID is associated with cerebral palsy, epilepsy, infantile spasms/West syndrome, or visual deficit, but more difficult in cases of autism spectrum disorders. Genetic studies provide an increasing number of aetiological diagnoses, and they are also becoming the first step in diagnostic studies. Array CGH (microarray-based comparative genomic hybridisation) is the genetic test with the highest diagnostic yield in children with unexplained GDD/ID.The cost-effectiveness of complementary studies seems to be low if there are no clinically suspected entities. However, even in the absence of treatment, aetiological diagnosis is always important in order to provide genetic counselling and possible prenatal diagnosis, resolve family (and doctors') queries, and halt further diagnostic studies.
- Published
- 2013
31. [Not Available]
- Author
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Raquel, Pérez Delgado, Ana, Soria Marzo, Inmaculada, García Jiménez, Carmen, Campos Calleja, Juan Ramón, García Mata, Miguel, Lafuente Hidalgo, Alberto, García Oguiza, Javier, López Pisón, José, Luis Peña Segura, and Antonio, Baldellou Vázquez
- Published
- 2012
32. Paraparesia espástica progresiva y siringomielia estática: síndrome de Silver/SPG17
- Author
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Lafuente Hidalgo, Miguel, primary, Peña Segura, José Luis, additional, Ranz Angulo, Rosana, additional, García Oguiza, Alberto, additional, Pérez Delgado, Raquel, additional, Izquierdo Álvarez, Silvia, additional, and López Pisón, Javier, additional
- Published
- 2015
- Full Text
- View/download PDF
33. [Pediatric cerebrovascular accident secondary to fibromuscular dysplasia]
- Author
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A Olloqui, Escalona, Z Galve, Pradel, J López, Pisón, A García, Oguiza, N Clavero, Montañés, R Pérez, Delgado, M Lafuente, Hidalgo, S, Guelbenzu, and J L Peña, Segura
- Subjects
Male ,Stroke ,Adolescent ,Fibromuscular Dysplasia ,Humans - Abstract
We present the case of a 13 year-old patient diagnosed with fibromuscular dysplasia (FMD) by angiographic study, with "string of beads" image of internal carotid, after undergoing two ischemic strokes in nine days. Conservative treatment with acetylsalicylic acid at antiaggregant doses was decided. Twenty months later the clinical progress is favorable without presenting any new episodes. FMD is a very uncommon cause of stroke in childhood. Little is known about its etiology. In spite of it usually being an asymptomatic disease, it must be considered in cases of repeated or inexplicable strokes. Its prognosis and treatment is controversial, due to the limited number of pediatric patients with this pathology.
- Published
- 2009
34. [Self-assessment of compliance with a cranioencephalic trauma protocol in the emergency department in children over 1 year old]
- Author
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Y, Romero Salas, M, Pascual Sánchez, J, López Pisón, A, García Oguiza, J R, García Mata, M C, García Jiménez, C, Campos Calleja, and J L, Peña Segura
- Subjects
Child, Preschool ,Craniocerebral Trauma ,Humans ,Infant ,Guideline Adherence ,Emergencies ,Child ,Emergency Service, Hospital - Published
- 2009
35. [Epilepsy with onset between the ages of 3 and 12 months. Our experience gained over a 10-year period]
- Author
-
R, Pérez-Delgado, Z, Galve-Pradel, J, López-Pisón, A, Soria-Marzo, A, García-Oguiza, and J L, Peña-Segura
- Subjects
Epilepsy ,Child, Preschool ,Humans ,Infant ,Electroencephalography ,Age of Onset ,Prognosis - Abstract
The prognosis of epilepsy is essentially determined by its aetiology and a poorer prognosis is generally associated with an early onset of the seizures.In this study we review our experience in epilepsies in children born after 1st January 1997 and who had their first acute non-symptomatic seizure before 31st March 2007 and between the ages of 3 and 12 months. Special attention is given to the analysis of cases of remote non-symptomatic epilepsies.Of the children born in that period, 267 were diagnosed with epilepsy, and the first seizure occurred between 3 and 12 months of age in 69 cases: 39 of which were symptomatic and 30 were cryptogenic and idiopathic epilepsies. West's syndrome/childhood spasms were observed in 20 cases (17 of the symptomatic cases and three of the cryptogenic and idiopathic patients). The cryptogenic and idiopathic cases were divided into three groups depending on their electroencephalogram pattern: nine generalised, 18 with no generalised alterations and three hypsarrhythmias. In addition, the three groups were analysed taking into account three degrees of psychomotor development: normal, slight retardation and moderate/severe retardation. None of the non-generalised cases presented severe psychomotor retardation, whereas 78% of the generalised and 33% of those with West's syndrome developed an important degree of retardation in their course.Our experience is compatible with the existence of epilepsies that have their onset in the early months of life and a good prognosis, which is important when it comes to the information and therapeutic approaches in cases of remote non-symptomatic epilepsy.
- Published
- 2008
36. [Evaluation of the protocol for diagnostic lumbar puncture in the emergency department]
- Author
-
R, Pérez Delgado, B, Sebastián Torres, J, López Pisón, A, García Oguiza, J R, García Mata, M C, García Jiménez, C, Campos Calleja, and J L, Peña Segura
- Subjects
Adolescent ,Clinical Protocols ,Child, Preschool ,Humans ,Infant ,Child ,Emergency Service, Hospital ,Spinal Puncture ,Retrospective Studies - Published
- 2008
37. [Early care and botulinum toxin. Our experience in the 21st century]
- Author
-
J L, Peña-Segura, M, Marco-Olloqui, R, Cabrerizo de Diago, R, Pérez-Delgado, A, García-Oguiza, M, Lafuente-Hidalgo, B, Sebastián-Torres, V, Rebage, and J, López-Pisón
- Subjects
Male ,Adolescent ,Neuromuscular Agents ,Spain ,Cerebral Palsy ,Child, Preschool ,Humans ,Infant ,Female ,Botulinum Toxins, Type A ,Child - Abstract
In neuropaediatrics, the aetiological diagnosis rarely allows a causal treatment to be established. In many cases, all we can offer is referral to early intervention (EI) and botulinum toxin type A (BTA). The only requirement before starting both interventions is a functional or syndromic diagnosis.Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA service in the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003.By the end of 2007, 2629 requests had been made for admission to the EI programme and in the year 2007 a total of 702 children were treated. In four years and four months 122 children with infantile cerebral palsy (ICP) were infiltrated with BTA, with positive results in 70% of cases and mild, transient side effects in 13.1%.The children, parents and professionals involved all view EI and BTA with satisfaction. Neuropaediatrics is one of the medical specialties that are best suited to child development and early intervention centres (CDIAT). The neuropaediatrician participates in all the stages of the EI: detection, diagnosis, information and intervention. He or she may act as the coordinating and homogenising element in EI, that is to say, as a link between CDIAT and health care services. Neuropaediatricians are also essential in EI training and education, in family training, information and awareness campaigns, primary care, social services and nurseries. Treatment with BTA cannot be viewed as an isolated technique, but instead as part of a programme in which physiotherapy, orthosis and sometimes surgery play a fundamental role. Coordination among the different professionals involved in treating the child with ICP is absolutely crucial.
- Published
- 2008
38. [Neuropaediatrics and primary care. Our experience in the 21st century]
- Author
-
J, López-Pisón, R, Pérez-Delgado, A, García-Oguiza, M, Lafuente-Hidalgo, B, Sebastián-Torres, R, Cabrerizo de Diago, V, Rebage, M C, García-Jiménez, A, Baldellou-Vázquez, T, Arana-Navarro, V, Alonso-Martínez, J M, Mengual-Gil, J C, Bastarós-García, and J L, Peña-Segura
- Subjects
Male ,Adolescent ,Neurology ,Primary Health Care ,Child, Preschool ,Humans ,Infant ,Female ,Nervous System Diseases ,Child ,Pediatrics - Abstract
The quality of the health care in a major part of neuropaediatrics benefits from appropriate communication and strategies that have been agreed with primary care (PC) paediatricians.We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over a period of eight years and we also discuss the most important courses of action followed in the most prevalent problems.Eight reasons for visiting accounted for 86% of the total number: paroxysmal disorders (33%), headache (27%), psychomotor retardation (11.5%), alterations affecting the shape or size of the head (5.6%), problems at school and/or attention deficit (4.5%), behavioural disorders (4.25%), gait disorders (3.5%) and perinatal distress (3.4%). The most frequent diagnoses are headaches/migraines (26%), non-epileptic paroxysmal disorders (16.5%), prenatal encephalopathy (10.5%), epilepsy (8%), mental retardation (7.5%), infantile cerebral palsy (4.6%), cryptogenic attention deficit hyperactivity disorder (ADHD) (3.8%) and cryptogenic autism (3.6%).The PC paediatrician working in close relation with the children and their families in all cases is the person mainly responsible for conducting a follow-up on some of the most prevalent problems, such as headaches, many non-epileptic paroxysmal disorders and ADHD. The processes must be established, clearly specified, based on the best evidence, with the participation and within reach of all the professionals involved, in order to favour homogeneity and keep variability in the interventions to a minimum. Channels of communication, including the information and communications technologies, need to be set up to allow health professionals to be permanently up-to-date and capable of controlling their patients in the best possible way.
- Published
- 2008
39. [Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile]
- Author
-
J, López-Pisón, R, Pérez-Delgado, A, García-Oguiza, M, Lafuente-Hidalgo, M, García-Jiménez, M L, Calvo-Ruata, J L, Peña-Segura, V, Rebage, M, Girós-Blasco, M J, Coll, and A, Baldellou-Vázquez
- Subjects
Peroxisomal Disorders ,Adolescent ,Child, Preschool ,Fatty Acids ,Humans ,Child - Abstract
The aetiology and clinical features of peroxisomal diseases vary widely. An altered very-long-chain fatty acid (VLCFA) profile is commonly found in many of these diseases, and this makes it easier to point the diagnosis in the right direction.We review our experience in the diagnosis of cases of peroxisomal diseases with an altered VLCFA pattern; these were determined in serum only when there was a strong clinical suspicion up to the end of 1998, when their quantification by chromatography was introduced into our laboratory.The neuropaediatric database included 10,239 cases between May 1990 and 1st October 2007. Ten cases of peroxisomal disease with an altered VLCFA pattern were identified, all of them males. There were two cases of Zellweger syndrome spectrum, one unclassified peroxisomal oxidation defect and seven X-linked adrenoleukodystrophies (four with neurological compromise and three with no neurological damage; two were identified in siblings of patients and the other due to the presence of Addison's syndrome).In our 10 cases, the diagnosis was guided by the clinical or familial features that led to the determination of VLCFA. Being able to determine VLCFA makes early systematic diagnosis of patients possible. At present, VLCFA determination is performed when there is a clinical suspicion of Zellweger spectrum, suspected X-linked adrenoleukodystrophy/adrenomyeloneuropathy of unclear causation, Addison's disease, both in males and females, and above all in cases of chronic encephalopathy of unknown causation, with or without prenatal onset.
- Published
- 2008
40. [Immediate switching from carbamazepine to oxcarbazepine. Our experience in children and adolescents]
- Author
-
J, López Pisón, C, Fernández Espuelas, I, Sáenz Moreno, A, García Oguiza, R, Cabrerizo de Diago, and J L, Peña Segura
- Subjects
Male ,Carbamazepine ,Epilepsy ,Adolescent ,Child, Preschool ,Humans ,Oxcarbazepine ,Female ,Child ,Retrospective Studies - Abstract
We review retrospectively the clinical histories of patients who were immediately switched from carbamazepine (CBZ) to oxcarbazepine (OXC), being administered a minimum of 1.3 times the CBZ dosis in 2 daily dosis of OXC.The immediate switching was carried out in 22 paediatric cases. 17 patients were taking CBZ in monotherapy and 5 in politherapy. The change was made in 20 cases to lower the number of seizures (and to avoid side effects in 4 of them), and in 2 only to reduce drowsiness and fatigue. The average change was from 18.62 mg/kg of CBZ to 28.89 mg/kg of OXC. The medium change rate was 1.6:1 (maximum: 2:1).In 19 cases there were no side effects. With one boy, the essential tremor worsened and two girls became more tired and drowsy. Three experienced less drowsiness and one less weight increase. Twelve cases showed no seizure changes. Five cases became immediately seizure-free, three of them for a prolongated time. There was a reduction in seizure frequency in 2 cases, with posterior disappearance in one of them. Three cases experienced a reduction in seizure intensity. In two cases OXC was stopped after 24 seizure-free months. Fourteen patients were still taking OXC, 8 in monotherapy, with a mean follow-up of 31.5 months.Given the potential benefits, ease and good tolerability, we advise trying with immediate switching to OXC, before adding another antiepileptic drug to CBZ.
- Published
- 2007
41. [Facial paralysis reported in a paediatric emergency department: actuation protocol reviewed and verified]
- Author
-
I, Sáenz-Moreno, M, Jiménez-Fernández, J, López-Pisón, S, Miralbés-Terraza, A, García-Oguiza, J R, García-Mata, M C, García-Jiménez, C, Campos-Calleja, and J L, Peña-Segura
- Subjects
Male ,Quality Control ,Adolescent ,Clinical Protocols ,Child, Preschool ,Facial Paralysis ,Hospital Departments ,Humans ,Female ,Child ,Emergency Service, Hospital ,Pediatrics ,Quality of Health Care - Abstract
As result of our aim to improve the quality standard of our emergency system, work has been carried out in relation to the development and monitorization of effective clinical protocols in the department of paediatric practice.An evidence based review approach was taken to design a clinical protocol about Bell's palsy condition for the paediatric emergency department. Previous protocol approved in March 2003 was reviewed accordingly with the new designed protocol's quality standards. The Bell's palsy cases reported since March 2003 until June 2006 to paediatric emergency department were analyzed.A total of 27 patients affected by Bell's palsy were reported to the hospital's emergency department. Facial expression was described in 85.19% of the cases. Cranial nerves normal function was reported in 77.78%. Fundoscopic examination was described in 77.78% and otoscopic findings in 44.44%; the absence of herpes vesicles was analyzed only in 11.11%. All patients received steroid therapy (prednisone) and the treatment resulted in the complete recovery. The mean time to resolution was 58.6 days.In order to improve hospital's quality standards, clinical protocols should be designed and verified regularly to ensure the proper performance. Medical auditing also contributes to improve effectiveness in health attendance.
- Published
- 2007
42. [Evaluation of compliance with quality criteria established in a headache protocol in the emergency department]
- Author
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A, García Oguiza, G, Manjón Llorente, J, López Pisón, J R, García Matab, M C, García Jiménez, C, Campos Calleja, and J L, Peña Segura
- Subjects
Clinical Protocols ,Headache Disorders ,Humans ,Child ,Emergency Service, Hospital - Published
- 2007
43. Paraparesia espástica progresiva y siringomielia estática: síndrome de Silver/SPG17
- Author
-
García-Oguiza A, Rosana Ranz-Angulo, M. Lafuente-Hidalgo, José Luis Peña-Segura, Silvia Izquierdo-Álvarez, Javier López-Pisón, and Pérez-Delgado R
- Subjects
Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Genetic heterogeneity ,Magnetic resonance imaging ,Heterozygote advantage ,General Medicine ,medicine.disease ,Silver syndrome ,Penetrance ,Reflex ,Medicine ,Neurology (clinical) ,business ,Progressive spastic paraparesis ,Syringomyelia - Published
- 2015
44. Síndrome de Gorlin en la edad pediátrica
- Author
-
Roncalés Samanes, Pilar, primary, Peña Segura, José Luis, additional, Fernando Martínez, Ruth, additional, Fuertes Rodrigo, Cristina, additional, García Oguiza, Alberto, additional, and López Pisón, Javier, additional
- Published
- 2014
- Full Text
- View/download PDF
45. Síndrome de Gorlin en la edad pediátrica
- Author
-
García-Oguiza A, Javier López-Pisón, José Luis Peña-Segura, Ruth Fernando-Martínez, Cristina Fuertes-Rodrigo, and Pilar Roncalés-Samanes
- Subjects
business.industry ,Medicine ,Neurology (clinical) ,General Medicine ,business ,Humanities - Abstract
Introduccion. El sindrome de Gorlin (SG) es un trastorno de herencia autosomica dominante asociado a mutaciones en el gen PTCH1, cuya principal caracteristica es la aparicion de carcinomas basocelulares, unido a anomalias esqueleticas, queratoquistes odontogenicos y tumores intracraneales. Caso clinico. Nina de 3 anos y 10 meses, ingresada por ataxia aguda. Destacan como antecedentes personales retraso psicomotor y como antecedentes familiares la sospecha de SG en la madre por quiste maxilar. En la exploracion, se aprecia macrocefalia con frente prominente e hipertelorismo, asi como nevo. Se solicita estudio genetico de SG, en el que se detecta la mutacion c.930delC en el exon 6 del gen PTCH1 en heterocigosis. Conclusiones. En el SG hay un aumento de la susceptibilidad al desarrollo de carcinomas basocelulares y es preciso un estrecho control dermatologico. Es necesario un seguimiento neurologico clinico y de imagen, mediante resonancia magnetica, para el diagnostico precoz de tumores intracraneales, fundamentalmente el meduloblastoma. Tambien son caracteristicos los queratoquistes odontogenicos, otras alteraciones cutaneas, fibromas cardiacos y ovaricos, asi como anomalias esqueleticas, que precisan controles clinicos y de imagen periodicos, y tratamiento en caso de ser necesarios, pero debe evitarse la radiacion. El SG es un trastorno poco frecuente, que se debe sospechar ante la presencia de alteraciones caracteristicas. Es necesario un seguimiento multidisciplinar, asi como establecer un protocolo de actuacion, para un temprano diagnostico y tratamiento de las complicaciones potencialmente graves derivadas de esta enfermedad.
- Published
- 2014
46. Evaluación del protocolo de punción lumbar diagnóstica en urgencias
- Author
-
J. López Pisón, B. Sebastián Torres, J.L. Peña Segura, C. Campos Calleja, A. García Oguiza, R. Pérez Delgado, M.C. García Jiménez, and J.R. García Mata
- Subjects
business.industry ,Health Policy ,Medicine ,General Medicine ,business - Published
- 2009
47. Autoevaluación del cumplimiento del protocolo del traumatismo craneoencefálico en urgencias en mayores de un año
- Author
-
A. García Oguiza, J.L. Peña Segura, C. Campos Calleja, J. López Pisón, J.R. García Mata, Y. Romero Salas, M.T. Pascual Sánchez, and M.C. García Jiménez
- Subjects
Gynecology ,medicine.medical_specialty ,business.industry ,Guideline adherence ,Pediatrics, Perinatology and Child Health ,medicine ,MEDLINE ,business ,Pediatrics ,RJ1-570 - Published
- 2008
48. Valoración del cumplimiento de los criterios de calidad del protocolo de cefaleas en urgencias
- Author
-
J. López Pisón, J.L. Peña Segura, MªC García Jiménez, G. Manjón Llorente, García Matab, C. Campos Calleja, and A. García Oguiza
- Subjects
Nursing ,business.industry ,Pediatrics, Perinatology and Child Health ,Medicine ,Drug compliance ,business ,Pediatrics ,RJ1-570 - Published
- 2007
49. Protocolo de actuación ante las deformidades craneales en las consultas de pediatría de atención primaria, neuropediatría y neurocirugía
- Author
-
Peña Segura, José Luis, Sierra Sirvent, Javier Félix, Cáceres Encinas, Ángel, Cantero Antón, J. M., García Oguiza, A., Pérez Delgado, R., García Jiménez, Inmaculada, López Pisón, Javier, Peña Segura, José Luis, Sierra Sirvent, Javier Félix, Cáceres Encinas, Ángel, Cantero Antón, J. M., García Oguiza, A., Pérez Delgado, R., García Jiménez, Inmaculada, and López Pisón, Javier
- Abstract
The protocol under the title «Deformities in the skull and consultations Neuropediatrics Neurosurgery» consensus was for the services of Neuropediatrics, Neurosurgery and Pediatrics primary care. The protocol was submitted to pediatricians primary Scientific Meeting organized by the Pediatric Society of Aragon, La Rioja and Soria (Spars) with sponsorship from the Spanish Society of Pediatrics and Primary Care extrahospital (SEPEAP) of the Spanish Association of Pediatrics dated 8-5-08. It was approved by the Technology Committee of the Hospital Miguel Servet dated 17-6-08 with identificativo Z2-076 protocol. Its aim is to improve the «continuum of care» to a growing problem in our society.We should be understood as a working tool for its best use, and in fact is a true reflection of the original, which follows the format of clinical protocols approved by the Technology Committee of the Hospital Miguel Servet., El protocolo con el título «Deformidades craneales en las consultas de Neuropediatría y Neurocirugía» ha sido consensuado por los servicios de Neuropediatría, Neurocirugía y Pediatría de Atención Primaria. Este protocolo fue presentado a los pediatras de primaria en Reunión Científica organizada por la Sociedad de Pediatría de Aragón, La Rioja y Soria (SPARS) con el patrocinio de la Sociedad Española de Pediatría Extrahospitalaria y Atención Primaria (SEPEAP) de la Asociación Española de Pediatría con fecha 8-5-08. Fue aprobado por la Comisión de Tecnología del Hospital Miguel Servet con fecha 17-6-08 con el identificativo de protocolo Z2-076. Su objetivo no es otro que mejorar el «continuum asistencial» ante una problemática creciente en nuestra sociedad. Creemos debe entenderse como una herramienta de trabajo para su mejor aprovechamiento, y de hecho es un fiel reflejo del original, que sigue el formato de Protocolos Clínicos aprobado por la Comisión de Tecnología del Hospital Miguel Servet.
- Published
- 2008
50. El «pie de Teruel»: ¿una patología desaparecida?
- Author
-
Miralbés Terraza, S., Santos Juanes, J.M. de los, Sebastián Checa, Sonia, García Oguiza, A., de Miguel Pardo, Cristina, Valle Sánchez, F., Miralbés Terraza, S., Santos Juanes, J.M. de los, Sebastián Checa, Sonia, García Oguiza, A., de Miguel Pardo, Cristina, and Valle Sánchez, F.
- Published
- 2007
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