4 results on '"Aisa Pardo E"'
Search Results
2. [The design of a population register on cerebral palsy: its application and analysis in Andorra and Navarre]
- Author
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Merce AVELLANET, Mena A, and Aisa-Pardo E
- Subjects
Male ,Epilepsy ,Cerebral Palsy ,Infant ,Gestational Age ,Comorbidity ,Infant, Premature, Diseases ,Andorra ,Spain ,Child, Preschool ,Education, Special ,Humans ,Female ,Registries ,Infant, Premature - Abstract
Cerebral palsy describes a group of developmental and posture disorders, which cause a limitation of activity due to non-progressive damage occurring in the developing brain. A population register facilitates the identification of cerebral palsy cases within a specific geographic population. Its usefulness is recognized in the world literature but in Spain, published databases focus on the treatment or complications of cerebral palsy.To propose a population register that can be useful in different areas of our environment and to evaluate its validity through its application in two differentiated and geographically delimited health areas.The registry consists of 124 items divided into seven sections: data on the child filiations, maternal history and parents' information, pregnancy and neonatal period data, diagnoses and classification, neuroimaging tests, therapeutic interventions and others. Patients attended in external consultations in Navarre and Andorra were included.In the register, 53 patients (52.8% females) were evaluated. 56.5% were premature. Spastic cerebral palsy is the most frequent presentation. 42% have associated epilepsy.The use of population registers allows a better knowledge of cerebral palsy as well as the evaluation and development of prevention strategies and optimization of care resources with objective data. It is necessary to generalize the use of this type of records in our environment.Diseño de un registro de paralisis cerebral de ambito poblacional: aplicacion y analisis en Andorra y Navarra.Introduccion. La paralisis cerebral describe un grupo de trastornos del desarrollo y la postura que causan una limitacion de la actividad debido a alteraciones no progresivas ocurridas en el cerebro en desarrollo. El registro poblacional facilita la identificacion de los casos de paralisis cerebral dentro de una poblacion geografica especifica. Esta reconocida su utilidad en la bibliografia, pero en España, las bases de datos publicadas se centran en el tratamiento o las complicaciones de la paralisis cerebral. Objetivos. Proponer un registro poblacional que pueda ser util en diferentes areas de nuestro entorno y evaluar su validez mediante su aplicacion en dos areas de salud diferenciadas y geograficamente delimitadas. Sujetos y metodos. El registro elaborado constaba de 124 items divididos en siete apartados: datos de filiacion del niño, historia materna e informacion de los padres, datos del embarazo y periodo neonatal, diagnosticos y clasificacion, pruebas de neuroimagen, intervenciones terapeuticas y otros. Se incluyo a los pacientes atendidos en consultas externas en Navarra y Andorra. Resultados. En el registro se evaluo a 53 pacientes (52,8% mujeres). El 56,5% fueron prematuros. La paralisis cerebral espastica es la presentacion mas frecuente. Un 42% asociaba epilepsia. Conclusiones. El uso de registros poblacionales permite un mejor conocimiento de la paralisis cerebral, asi como la evaluacion y el desarrollo de estrategias de prevencion y optimizacion de los recursos asistenciales con datos objetivos. Es necesaria la generalizacion del uso de este tipo de registros en nuestro entorno.
3. [The design of a population register on cerebral palsy: its application and analysis in Andorra and Navarre].
- Author
-
Avellanet M, Mena A, and Aisa-Pardo E
- Subjects
- Andorra epidemiology, Cerebral Palsy classification, Child, Preschool, Comorbidity, Education, Special, Epilepsy epidemiology, Female, Gestational Age, Humans, Infant, Infant, Premature, Infant, Premature, Diseases epidemiology, Male, Spain epidemiology, Cerebral Palsy epidemiology, Registries
- Abstract
Introduction: Cerebral palsy describes a group of developmental and posture disorders, which cause a limitation of activity due to non-progressive damage occurring in the developing brain. A population register facilitates the identification of cerebral palsy cases within a specific geographic population. Its usefulness is recognized in the world literature but in Spain, published databases focus on the treatment or complications of cerebral palsy., Aims: To propose a population register that can be useful in different areas of our environment and to evaluate its validity through its application in two differentiated and geographically delimited health areas., Subjects and Methods: The registry consists of 124 items divided into seven sections: data on the child filiations, maternal history and parents' information, pregnancy and neonatal period data, diagnoses and classification, neuroimaging tests, therapeutic interventions and others. Patients attended in external consultations in Navarre and Andorra were included., Results: In the register, 53 patients (52.8% females) were evaluated. 56.5% were premature. Spastic cerebral palsy is the most frequent presentation. 42% have associated epilepsy., Conclusions: The use of population registers allows a better knowledge of cerebral palsy as well as the evaluation and development of prevention strategies and optimization of care resources with objective data. It is necessary to generalize the use of this type of records in our environment.
- Published
- 2018
4. [Oxidative phosphorylation defects with neonatal presentation: review of our caseload].
- Author
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Rebage Moisés V, Rite Gracia S, López-Pisón J, Muñoz Albillos M, Aisa Pardo E, Giménez Más JA, Arenas Barbero J, Montoya Vilarroya J, Marco Telloa A, Salazar García-Blanco MI, and Baldellou Vázquez A
- Subjects
- Female, Humans, Incidence, Infant, Newborn, Male, Phenotype, Metabolism, Inborn Errors diagnosis, Metabolism, Inborn Errors epidemiology, Metabolism, Inborn Errors etiology, Metabolism, Inborn Errors metabolism, Oxidative Phosphorylation
- Abstract
Objectives: To define the oxidative phosporilation deficit syndrome in the neonatal in terms of incidence and clinical, biochemical and genetic features., Material and Methods: We report 9 newborns diagnosed as oxidatic phosporilation deficit during the last 8 years in our hospital by means of clinical, metabolic, pathological and molecular studies, among other evaluations. The diagnosis was established based on ensymatic deficit of the respiratory chain, associated with alterations in the mtDNA in one case, and with mitochondrial ultrastructural anomalies in 5 cases., Results: There was an incidence of 1/3.555 newborns and 1/832 newborns admitted in our Neonatal Unit. In four of them there were familial antecedents and polihidramnios in two. Most of them, 8 out of 9, were born at term after a normal pregnancy and delivery, with normal Apgar score and auxological examination. Symptomatology started immediately at the neonatal period as acute neurological damage in most of them. There was a severe evolution as 5 children died and 4 survived with severe damage. All of them had the classical phenotype of early severe encefalopathy, associated with dismorphic features, hypotomía, neurosensorial defects, brain dysgenesis and atrophy, anomalies in the EEG and in 5 of them there were also systemic anomalies, mainly cardiopathy. The most frequent biochemical alteration was a significative increment of the quotient lactate/piruvate. Five patients presented ultrastructural alterations of the mitochondria in thr muscle biopsy but Cox stain was not positive in any case. Three cases has a deficit of the complex IV, e of the complex I-IV, 2 of the complex I and one the complex I-III-IV. Only one patient had multiple deletions in the mtDNA., Conclusions: Oxidatic phosporilation deficit are frequent and severe diseases of prenatal onset with limited fetal effects, homogeneous clinical phenotype with frequent damage of the central nervous system and variable extraneurological alteration and inconsistent biochemical pattern. Enzymatic studies ar need for making the diagnosis in all suspected cases,
- Published
- 2000
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