Serie de 22 casos de ictus isquémico arterial perinatal: factores de riesgo, manejo clínico y secuelas neurológicas / A series of 22 cases of perinatal arterial ischaemic stroke: risk factors, clinical management and neurological sequelae

Introduction. Perinatal arterial ischaemic stroke (PAIS) is almost as common as in adulthood and causes significant neurological sequelae. Aim. The aim is to describe the risk situations surrounding these neonates, the clinical manifestations, the management, the cost-effectiveness of diagnostic tests and the neurological sequelae. Patients and methods. We conducted an observational study of a cohort of patients consisting of neonates with a gestational age = 35 weeks diagnosed with PAIS in our hospital between 2010 and 2021. Results. Twenty-two cases of PAIS were included, and the incidence in our centre was 1/1,869 live newborns. The data showed that 81.8% had some intrapartum risk factor and 40.9% had a combination of several risk factors. It started with seizures (mean age 27.3 hours) in 77.3% of cases. Patients with a stroke in the left hemisphere had more sequelae (77.8%) than those with a stroke on the right-hand side (16.6%) (p = 0.041), with the exception of infantile cerebral palsy (p = 0.04), while we found no difference between hemispheres in the frequency of language impairment (p = 0.06). The mean follow-up time was 6.13 ± 3.06 years. A total of 63.6% of infants had neurological sequelae: infantile cerebral palsy (40.9%), language disorders (22.7%) and intellectual disability (9%). Moreover, 18.2% developed epilepsy (between 0.25 and 1.8 years) and antiseizure treatment was maintained after discharge in 37.5% of cases in the last years of the study. Conclusions. If a newborn infant presents seizures, it is necessary to rule out the possibility of a stroke. PAIS causes neurological sequelae in over 60% of cases. Early identification is essential to improve the neurological prognosis and avoid the prolonged use of antiseizure drugs where possible. (AU)

Introducción: El ictus cerebral isquémico arterial perinatal (IIAP) es una entidad casi tan frecuente como en la época adulta, que ocasiona secuelas neurológicas importantes.ObjetivoDescribir las situaciones de riesgo que rodean a estos neonatos, la clínica que manifiestan, el manejo, la rentabilidad de las pruebas diagnósticas y las secuelas neurológicas.Pacientes y métodosEstudio observacional de una cohorte de pacientes formada por neonatos = 35 semanas de edad gestacional diagnosticados de IIAP entre 2010 y 2021 en nuestro hospital.ResultadosSe incluyeron 22 casos de IIAP, y su incidencia en nuestro centro fue de 1/1.869 recién nacidos vivos. El 81,8% tuvo algún factor de riesgo intraparto y en el 40,9% se aglutinaron varios. Comenzó con convulsiones (edad media 27,3 horas) el 77,3% de casos. Los pacientes con ictus del hemisferio izquierdo tuvieron más secuelas (77,8%) en comparación con los derechos (16,6%) (p = 0,041), a expensas de la parálisis cerebral infantil (p = 0,04), mientras no encontramos diferencia en la frecuencia de alteraciones del lenguaje (p = 0,06) entre hemisferios. El tiempo medio de seguimiento fue de 6,13 años ± 3,06. El 63,6% de los neonatos tuvo secuelas neurológicas: parálisis cerebral infantil (40,9%), trastornos del lenguaje (22,7%) y discapacidad intelectual (9%). Desarrolló epilepsia el 18,2% (entre 0,25 y 1,8 años) y se mantuvo el tratamiento anticrisis tras el alta en el 37,5% de los casos en los últimos años del estudio.ConclusionesAnte un neonato con convulsiones hay que descartar un ictus cerebral. El IIAP ocasiona secuelas neurológicas en más del 60% de los casos. Su identificación precoz es fundamental para mejorar el pronóstico neurológico y evitar el uso prolongado de fármacos anticrisis cuando resulte posible. (AU)

[A series of 22 cases of perinatal arterial ischaemic stroke: risk factors, clinical management and neurological sequelae]. / Serie de 22 casos de ictus isquémico arterial perinatal: factores de riesgo, manejo clínico y secuelas neurológicas.

INTRODUCTION: Perinatal arterial ischaemic stroke (PAIS) is almost as common as in adulthood and causes significant neurological sequelae. AIM: The aim is to describe the risk situations surrounding these neonates, the clinical manifestations, the management, the cost-effectiveness of diagnostic tests and the neurological sequelae. PATIENTS AND METHODS: We conducted an observational study of a cohort of patients consisting of neonates with a gestational age = 35 weeks diagnosed with PAIS in our hospital between 2010 and 2021. RESULTS: Twenty-two cases of PAIS were included, and the incidence in our centre was 1/1,869 live newborns. The data showed that 81.8% had some intrapartum risk factor and 40.9% had a combination of several risk factors. It started with seizures (mean age 27.3 hours) in 77.3% of cases. Patients with a stroke in the left hemisphere had more sequelae (77.8%) than those with a stroke on the right-hand side (16.6%) (p = 0.041), with the exception of infantile cerebral palsy (p = 0.04), while we found no difference between hemispheres in the frequency of language impairment (p = 0.06). The mean follow-up time was 6.13 ± 3.06 years. A total of 63.6% of infants had neurological sequelae: infantile cerebral palsy (40.9%), language disorders (22.7%) and intellectual disability (9%). Moreover, 18.2% developed epilepsy (between 0.25 and 1.8 years) and antiseizure treatment was maintained after discharge in 37.5% of cases in the last years of the study. CONCLUSIONS: If a newborn infant presents seizures, it is necessary to rule out the possibility of a stroke. PAIS causes neurological sequelae in over 60% of cases. Early identification is essential to improve the neurological prognosis and avoid the prolonged use of antiseizure drugs where possible.

TITLE: Serie de 22 casos de ictus isquémico arterial perinatal: factores de riesgo, manejo clínico y secuelas neurológicas.Introducción. El ictus cerebral isquémico arterial perinatal (IIAP) es una entidad casi tan frecuente como en la época adulta, que ocasiona secuelas neurológicas importantes. Objetivo. Describir las situaciones de riesgo que rodean a estos neonatos, la clínica que manifiestan, el manejo, la rentabilidad de las pruebas diagnósticas y las secuelas neurológicas. Pacientes y métodos. Estudio observacional de una cohorte de pacientes formada por neonatos = 35 semanas de edad gestacional diagnosticados de IIAP entre 2010 y 2021 en nuestro hospital. Resultados. Se incluyeron 22 casos de IIAP, y su incidencia en nuestro centro fue de 1/1.869 recién nacidos vivos. El 81,8% tuvo algún factor de riesgo intraparto y en el 40,9% se aglutinaron varios. Comenzó con convulsiones (edad media 27,3 horas) el 77,3% de casos. Los pacientes con ictus del hemisferio izquierdo tuvieron más secuelas (77,8%) en comparación con los derechos (16,6%) (p = 0,041), a expensas de la parálisis cerebral infantil (p = 0,04), mientras no encontramos diferencia en la frecuencia de alteraciones del lenguaje (p = 0,06) entre hemisferios. El tiempo medio de seguimiento fue de 6,13 años ± 3,06. El 63,6% de los neonatos tuvo secuelas neurológicas: parálisis cerebral infantil (40,9%), trastornos del lenguaje (22,7%) y discapacidad intelectual (9%). Desarrolló epilepsia el 18,2% (entre 0,25 y 1,8 años) y se mantuvo el tratamiento anticrisis tras el alta en el 37,5% de los casos en los últimos años del estudio. Conclusiones. Ante un neonato con convulsiones hay que descartar un ictus cerebral. El IIAP ocasiona secuelas neurológicas en más del 60% de los casos. Su identificación precoz es fundamental para mejorar el pronóstico neurológico y evitar el uso prolongado de fármacos anticrisis cuando resulte posible.

Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.

INTRODUCTION: Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder caused by disruption of type I collagen synthesis. Previous Brazilian molecular OI studies have been restricted to case reports or small cohorts. The Brazilian OI Network (BOIN) is a multicenter study collecting clinical OI treatment data from five reference centers in three regions of Brazil. OBJECTIVE: To describe the molecular analysis of a large cohort of OI registered at BOIN. METHODS: Targeted next-generation sequencing (NGS) was performed at a centralized laboratory with the Ion Torrent platform, covering 99.6 % of the coding regions of 18 OI-associated genes. Clinical information was obtained from a clinical database. RESULTS: We included 156 subjects in the molecular analyses. Variants were detected in 121 subjects: 65 (53.7 %) in COL1A1, 42 (34.7 %) in COL1A2, 2 (1.7 %) in IFITM5, one (0.8 %) in CRTAP, three (2.5 %) in P3H1, two (1.7 %) in PPIB, four (3.3 %) FKBP10, one (0.8 %) in SERPINH1, and one (0.8 %) in TMEM38B. Ninety-one distinct variants were identified, of which 26 were novel. Of the 107 variants identified in COL1A1 and COL1A2, 24.5 % cause mild OI, while the remaining 75.5 % cause moderate, severe, or lethal OI, of which 49.3 % are glycine to serine substitutions. A single variant in FKBP10 (c.179A>C; p.Gln60Pro) was found in three unrelated and non-consanguineous participants living in the same geographic area in Northeast Brazil, suggesting a possible founder effect. CONCLUSION: Consistent with the literature, 88.4 % of the subjects had a variant in the COL1A1 and COL1A2 genes, with 10 % inherited in an autosomal recessive manner. Notably, one variant in FKBP10 with a potential founder effect requires further investigation. Data from this large cohort improves our understanding of genotype-phenotype correlations for OI in Brazil.

El lactante hipotónico / The hypotonic infant

En la presente revisión pretendemos repasar conceptos básicos sobre la exploración y enfoque diagnóstico inicial del lactante hipotónico, centrándonos exclusivamente en aspectos recogidos mediante la anamnesis y la exploración, pilares fundamentales a la hora de abordar correctamente el diagnóstico de la hipotonía en el lactante. Mencionaremos las principales enfermedades que puedan manifestarse con hipotonía como síntoma guía, facilitando algunos datos clíni cos “clave” para la adecuada clasificación y enfoque diagnós tico. Subrayaremos la gran importancia en el momento actual de la identificación del lactante hipotónico arrefléxico, que exige de un despistaje urgente de la Atrofia Muscular Espinal (AME), que precisa de un tratamiento urgente (código AME En la presente revisión pretendemos repasar conceptos básicos sobre la exploración y enfoque diagnóstico inicial del lactante hipotónico, centrándonos exclusivamente en aspectos recogidos mediante la anamnesis y la exploración, pilares fundamentales a la hora de abordar correctamente el diagnóstico de la hipotonía en el lactante. Mencionaremos las principales enfermedades que puedan manifestarse con hipotonía como síntoma guía, facilitando algunos datos clíni cos “clave” para la adecuada clasificación y enfoque diagnós tico. Subrayaremos la gran importancia en el momento actual de la identificación del lactante hipotónico arrefléxico, que exige de un despistaje urgente de la Atrofia Muscular Espinal (AME), que precisa de un tratamiento urgente (código AME) (AU)

[Symptomatic epilepsy with Panayiotopoulos-like onset: the importance of neuroimaging]. / Epilepsia sintomática con inicio que imita el síndrome de Panayiotopoulos: importancia de la neuroimagen.

INTRODUCTION: Panayiotopoulos syndrome (PS) is a common form of epilepsy in childhood that is classified as one of the benign idiopathic focal epilepsies. There is no consensus on the indication of neuroimaging in the presence of an electroclinical picture consistent with this disorder. Two cases are presented that began with an electroclinical pattern compatible with PS and in which alterations in the occipital structure were finally detected. CASE REPORTS: Two girls aged 5 and 6 years who began with episodes consistent with PS. In both cases neuroimaging showed structural lesions (cortical dysplasia and pleomorphic xanthoastrocytoma), and hence the final diagnosis was occipital symptomatic focal epilepsy, with the ensuing change in the prognosis and treatment. CONCLUSIONS: The literature describes abnormalities in cranial magnetic resonance imaging in 10-20% of diagnosed cases of PS in which a scan is performed, although the diagnosis of PS is not always changed (matching lesions). Both cases exemplify the importance of reaching a correct diagnosis through a detailed study that must include neuroimaging, since, in some patients, causal brain injuries will be detected and as a result the diagnosis, treatment and evolution will be significantly different.

TITLE: Epilepsia sintomática con inicio que imita el síndrome de Panayiotopoulos: importancia de la neuroimagen.Introducción. El síndrome de Panayiotopoulos (SP) es una epilepsia frecuente en la infancia que se clasifica dentro de las epilepsias focales idiopáticas benignas. No existe consenso sobre la indicación de neuroimagen ante un cuadro electroclínico compatible con este trastorno. Se presentan dos casos que comenzaron con un patrón electroclínico compatible con SP y en los que finalmente se detectaron alteraciones estructurales occipitales. Casos clínicos. Dos niñas de 5 y 6 años que comenzaron con episodios compatibles electroclínicamente con SP. En ambos casos, la neuroimagen mostró lesiones estructurales (displasia cortical y xantoastrocitoma pleomórfico), por lo que finalmente el diagnóstico fue de epilepsia focal sintomática occipital, con el consiguiente cambio en el pronóstico y el tratamiento. Conclusiones. En la bibliografía se describen anomalías en la resonancia magnética craneal en un 10-20% de los casos diagnosticados de SP en los que se realiza una prueba de imagen, aunque no siempre se modifica el diagnóstico de SP (lesiones coincidentes). Ambos casos ejemplifican la importancia de alcanzar un diagnóstico correcto mediante un estudio detallado que ha de incluir la realización de neuroimagen, ya que, en algunos pacientes, se detectarán lesiones cerebrales causales, por lo que el diagnóstico, el tratamiento y la evolución serán drásticamente distintos.

[Symptomatic absence seizures, the least known causation of absence seizures]. / Ausencias sintomaticas, la etiologia menos conocida de las crisis de ausencia.

INTRODUCTION: According to the 1981 International League Against Epilepsy classification, absence seizures are the paradigm of idiopathic generalised seizures of childhood. Although absences are mainly of an idiopathic origin, there are also symptomatic absences, which account for 10% of all cases of absences. It is thought that a structural pathology can favour the appearance of absences in genetically predisposed individuals. CASE REPORTS: We report the cases of two patients with symptomatic absence seizures of childhood onset. The first presented thalamic damage of a perinatal origin and the second had glucose transporter deficiency in the brain. CONCLUSION: A percentage of absence seizures in childhood are of a symptomatic origin. This occurs more frequently in children who present other types of epilepsy, focal or diffuse brain damage, and in early-onset absences.

TITLE: Ausencias sintomaticas, la etiologia menos conocida de las crisis de ausencia.Introduccion. Las crisis de ausencia son el paradigma de las crisis generalizadas idiopaticas de la infancia segun la clasificacion de la Liga Internacional contra la Epilepsia de 1981. A pesar de que las ausencias son mayoritariamente de origen idiopatico, existen ausencias sintomaticas, que suponen un 10% de los casos de ausencia. Se piensa que una patologia estructural puede favorecer la aparicion de ausencias en individuos geneticamente predispuestos. Casos clinicos. Se presentan dos pacientes con crisis de ausencia sintomaticas de inicio en la infancia. El primero muestra un daño talamico de origen perinatal, y el segundo, un deficit del transportador de glucosa cerebral. Conclusion. Existe un porcentaje de las crisis de ausencia en la infancia que presenta un origen sintomatico. Este hecho ocurre con mayor frecuencia en niños que presentan otros tipos de epilepsia, daños cerebrales focales o difusos, y en las ausencias que comienzan de forma precoz.

[Wolf-Hirschhorn syndrome: just a citation omission? Reply]. / Sindrome de Wolf-Hirschhorn: simple omision al citar? Replica.

TITLE: Sindrome de Wolf-Hirschhorn: simple omision al citar? Replica.

[Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review]. / Sindrome de Wolf-Hirschhorn. Descripcion de una cohorte española de 51 casos y revision de la bibliografia.

INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that gives rise to multiple congenital anomalies, caused by the loss of a distal portion of the short arm of chromosome 4 (4p16.3). It is characterised by its own peculiar facial phenotype, associated to growth problems, psychomotor retardation and epilepsy. AIMS: To establish a register of patients with WHS in Spain, describe their characteristics, determine the prevalence of epilepsy, estimate the degree of psychomotor retardation and perform a review of the literature in order to compare these data with those published to date. PATIENTS AND METHODS: In collaboration with the Spanish Wolf-Hirschhorn Syndrome Association, we contacted the families affected and collected data via forms endorsed by medical reports. RESULTS: The characteristics of 51 patients are described. Psychomotor retardation was considered the most severe in 37% of cases. Of the total sample, 88% presented epilepsy, and nearly all of them showed growth problems. The mean size of the deletion was 8.4 Mb, and the phenotype is displayed in photographs. Other clinical features reported were sensory alterations and nephrourological and cardiological pathologies. CONCLUSIONS: This study reports on the second largest cohort of patients with WHS with a genetic characterisation published to date. Many of the characteristics coincide with those described previously, with several exceptions, such as the degree of psychomotor retardation, which appears to be lower in the sample studied here.

TITLE: Sindrome de Wolf-Hirschhorn. Descripcion de una cohorte española de 51 casos y revision de la bibliografia.Introduccion. El sindrome de Wolf-Hirschhorn (SWH) es un sindrome de genes contiguos que provoca multiples anomalias congenitas, causado por la perdida de una porcion distal del brazo corto del cromosoma 4 (4p16.3). Se caracteriza por un fenotipo facial peculiar propio, asociado a problemas de crecimiento, retraso psicomotor y epilepsia. Objetivos. Realizar un registro de pacientes con SWH en España, describir sus caracteristicas, conocer la prevalencia de epilepsia, estimar el grado de retraso psicomotor y realizar una revision de la bibliografia para comparar estos datos con lo publicado hasta la fecha. Pacientes y metodos. En colaboracion con la Asociacion Española de Sindrome de Wolf-Hirschhorn se contacto con las familias afectadas y se realizo una recogida de datos mediante formularios corroborados por informes medicos. Resultados. Se describen las caracteristicas de 51 pacientes. El retraso psicomotor fue considerado grave en el 37% de los casos. El 88% presentaba epilepsia, y la practica totalidad, problemas de crecimiento. El tamaño medio de la delecion fue de 8,4 Mb y el fenotipo se expone en fotografias. Otra clinica descrita fueron alteraciones sensoriales y patologia nefrourologica y cardiologica. Conclusiones. Se describe la segunda cohorte en tamaño de pacientes con SWH publicada hasta la fecha con caracterizacion genetica. Muchas de las caracteristicas coinciden con lo ya descrito, salvo algunas, como el grado de retraso psicomotor, que parece ser menor en la muestra estudiada.

Cefaleas en la infancia / Headache in the infancy

No disponible

Estudio piloto de la eficacia de empoderar a pacientes mediante coaching como tratamiento asociado en el trastorno por déficit de atención e hiperactividad / Pilot study of the efficacy of empowering patients through coaching as a complementary therapy in attention deficit hyperactivity disorder

Introducción: El trastorno por déficit de atención e hiperactividad (TDAH) es el trastorno del neurodesarrollo más frecuente y debe ser considerado un problema de primer orden de salud pública por sus repercusiones funcionales a nivel escolar, familiar y social. Empoderar en salud es un modelo innovador en el cuidado de pacientes con enfermedades crónicas, basado en la educación de automanejo. Nuestro objetivo es valorar la eficacia de empoderar mediante coaching, dentro de un plan de tratamiento multimodal en pacientes pediátricos con TDAH. Material y métodos: estudio descriptivo, abierto y prospectivo. Incluimos a niños de entre 6 y 12 años pertenecientes a una asociación de pacientes de un área suburbana de la Comunidad de Madrid. Valoramos la situación previa y posterior a 5 sesiones gratuitas de coaching mediante el Cuestionario de conducta de Conners de dificultades a lo largo del día (D-DTODS) y escalas de satisfacción. Resultados: Incluimos a 49 pacientes, el 73,5% varones, con una edad media de 8,5 años. El 63,3% tenía TDAH subtipo hiperactivo/impulsivo y el 77,6% algún tipo de comorbilidad. Todos tratados con metilfenidato y mala evolución clínica. El 79,6% mejoró clínicamente, con una reducción media ± DT de los síntomas del 34,6 ± 11,1% y mantenida en el 79,6% tras 6 meses de seguimiento post coaching. Alcanzamos un nivel de satisfacción de 7,8 ± 1,7 sobre 10 y el 95,9% recomendó el tratamiento a otras familias. Conclusiones: Nuestros resultados aportan información sobre los posibles beneficios del coaching como tratamiento asociado en el TDAH

Introduction: Attention deficit hyperactivity disorder (ADHD) is the most frequent neurodevelopmental disorder and must be considered a public health priority because of its functional repercussions in school, family, and social settings. Health empowerment is an innovative model of care for patients with chronic diseases based on self-management education. Our goal is to evaluate the effectiveness of empowerment using coaching within a multimodal treatment plan in paediatric patients with ADHD. Material and methods: Descriptive open prospective study. We included children between 6 and 12 years old belonging to patient association in a suburban area of the Region of Madrid. We evaluated the situation before and after 5 cost-free coaching sessions using the Conners Questionnaire, Dundee difficult times of day scale, and satisfaction scales. Results: We included 49 patients (73.5% males) with an average age of 8.5 years. The ADHD hyperactive-impulsive subtype was present in 63.3% and 77.6% had some type of comorbidity. All were treated with methylphenidate and their clinical course was poor. Clinical improvements were observed in 79.6% with a 34.6% mean reduction in symptoms (SD 11.1), and improvements remained stable at 6 months follow-up after coaching. We reached a satisfaction level of 7.8 out of 10 (SD 1.7), and 95.9% of the participants recommended this treatment to other families. Conclusions: Our results provide information on the potential benefits of coaching as complementary treatment for ADHD

Pilot study of the efficacy of empowering patients through coaching as a complementary therapy in attention deficit hyperactivity disorder.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is the most frequent neurodevelopmental disorder and must be considered a public health priority because of its functional repercussions in school, family, and social settings. Health empowerment is an innovative model of care for patients with chronic diseases based on self-management education. Our goal is to evaluate the effectiveness of empowerment using coaching within a multimodal treatment plan in paediatric patients with ADHD. MATERIAL AND METHODS: Descriptive open prospective study. We included children between 6 and 12 years old belonging to patient association in a suburban area of the Region of Madrid. We evaluated the situation before and after 5 cost-free coaching sessions using the Conners Questionnaire, Dundee difficult times of day scale, and satisfaction scales. RESULTS: We included 49 patients (73.5% males) with an average age of 8.5 years. The ADHD hyperactive-impulsive subtype was present in 63.3% and 77.6% had some type of comorbidity. All were treated with methylphenidate and their clinical course was poor. Clinical improvements were observed in 79.6% with a 34.6% mean reduction in symptoms (SD 11.1), and improvements remained stable at 6 months follow-up after coaching. We reached a satisfaction level of 7.8 out of 10 (SD 1.7), and 95.9% of the participants recommended this treatment to other families. CONCLUSIONS: Our results provide information on the potential benefits of coaching as complementary treatment for ADHD.

Influencia de la comorbilidad médica y neuropsiquiátrica en la evolución de la epilepsia infantil / Influence of medical and neuropsychiatric comorbidities on the course of childhood epilepsy

INTRODUCCIÓN: El creciente reconocimiento de la comorbilidad y su carga plantea la necesidad de incluir en el manejo de los pacientes con epilepsia su investigación, prevención y tratamiento. MATERIAL Y MÉTODOS: Estudio descriptivo de todos los pacientes con epilepsia, perteneciente a un área suburbana de la Comunidad de Madrid, seguidos en consulta al menos durante un año. Excluimos a menores de 2 años, las crisis febriles y sintomáticas agudas. RESULTADOS: Incluimos a 46 pacientes (54% varones y edad media 9,1 años). El 52,5% en monoterapia. El 45,7% «libre de crisis», el 23,9% epilepsia «farmacorresistente» y el 30,4% «indeterminada». El 28,3% tenía patología médica crónica asociada y un 41,3% neuropsiquiátrica. El 32,6% acudió de manera imprevista por crisis, con un riesgo de 15 y 8,3 veces mayor aquellos con comorbilidad médica crónica y neuropsiquiátrica respecto al de los pacientes sin comorbilidades. CONCLUSIONES: La comorbilidad puede desempeñar un papel importante en el curso de la epilepsia

INTRODUCTION: Comorbidity has a significant influence in the management of patients with epilepsy. MATERIAL AND METHODS: A descriptive study of all patients with epilepsy, from a suburban area in the Community of Madrid followed up for at least 1 year. Children under 2 years, those with symptomatic acute febrile seizures were excluded. RESULTS: Out of a total of 46 patients (54% male, age median 9.1 years), more than half (52.5%) were on monotherapy, 45.7% were ''free of seizures'', 23.9% had ''drug resistant epilepsy'', and 30.4% were ''undetermined''. As regards comorbidities, 28.3% had chronic medical conditions, and 41.3% associated neuropsychiatric disorders. In32.6%, the seizures were of sudden onset, and those with chronic medical and neuropsychiatric comorbidities had a risk of 15 and 8.3 times, respectively, than those patients without comorbidities. CONCLUSIONS: Comorbidities may have an important role in the course of epilepsy

[Influence of medical and neuropsychiatric comorbidities on the course of childhood epilepsy]. / Influencia de la comorbilidad médica y neuropsiquiátrica en la evolución de la epilepsia infantil.

INTRODUCTION: Comorbidity has a significant influence in the management of patients with epilepsy. MATERIAL AND METHODS: A descriptive study of all patients with epilepsy, from a suburban area in the Community of Madrid followed up for at least 1 year. Children under 2 years, those with symptomatic acute febrile seizures were excluded. RESULTS: Out of a total of 46 patients (54% male, age median 9.1 years), more than half (52.5%) were on monotherapy, 45.7% were "free of seizures", 23.9% had "drug resistant epilepsy", and 30.4% were "undetermined". As regards comorbidities, 28.3% had chronic medical conditions, and 41.3% associated neuropsychiatric disorders. In32.6%, the seizures were of sudden onset, and those with chronic medical and neuropsychiatric comorbidities had a risk of 15 and 8.3 times, respectively, than those patients without comorbidities. CONCLUSIONS: Comorbidities may have an important role in the course of epilepsy.

[Current situation of the demand for health care in neuropaediatrics. Characteristics of consultations and comparison with other paediatric specialties]. / Situacion actual de la demanda asistencial en neuropediatria. Caracteristicas de la consulta y comparacion con otras especialidades pediatricas.

INTRODUCTION: In recent years it seems we are witnessing an increasing demand for neuropaediatric care. Epidemiological studies are needed to make this demand more widely known and thus promote appropriate management of health care resources. AIMS: To determine what proportion of all visits to the paediatric department in our hospital are neuropaediatric consultations, the annual consultation rate in child neurology per 1,000 inhabitants under 14 years of age, and the characteristics of that consultation (demographic data, reasons for the visit and others). PATIENTS AND METHODS: We conducted a retrospective, descriptive study on the health care activity of paediatric and neuropaediatric units in a level-II public hospital in the south of Madrid, over the period 2008-2012. RESULTS: Since our centre opened, the number of paediatric consultations has increased sharply, neuropaediatric visits being the most frequently demanded. In the year 2012 a total of 2,129 patients were seen (718 first visits), with a successive/first visit index of 1.96. Of all the paediatric consultations carried out in the hospital, 23.49% took place in neuropaediatrics. The mean rate of first visits in the period under study was 72.86/1,000 children. The main reasons for the consultation were learning disabilities/conduct disorders (24.1%), followed by headaches (21.9%), paroxysmal episodes (14.8%) and delayed psychomotor development (9%). CONCLUSIONS: The increase in demand for neuropaediatrics health care was clearly higher than that of other paediatric specialities over the same period of time. In the five years included in the study, the rate of first visits increased threefold. This health care overload could condition the care dispensed to patients with severe neurological pathologies. Further studies of a similar nature in different regions are required to determine the real situation of neuropaediatrics in Spain.

TITLE: Situacion actual de la demanda asistencial en neuropediatria. Caracteristicas de la consulta y comparacion con otras especialidades pediatricas.Introduccion. En los ultimos años parecemos asistir a una creciente demanda asistencial en neuropediatria. Los estudios epidemiologicos son necesarios para dar a conocer dicha demanda y asi favorecer una adecuada gestion de los recursos sanitarios. Objetivo. Conocer el peso proporcional de las consultas de neuropediatria en el global de las consultas pediatricas en nuestro hospital, la tasa anual de consulta en neurologia infantil por cada 1.000 habitantes menores de 14 años y las caracteristicas de dicha consulta (datos demograficos, motivos de consulta y otras). Pacientes y metodos. Estudio retrospectivo, descriptivo, sobre la actividad asistencial de consultas pediatricas y neuropediatricas en un hospital publico de nivel II en el sur de Madrid, durante el periodo 2008-2012. Resultados. Desde la apertura de nuestro centro, las consultas de pediatria han experimentado un marcado crecimiento, siendo las de neuropediatria las mas demandadas, ya que en el año 2012 atendieron a un total de 2.129 pacientes (718 primeras consultas), con un indice de sucesiva/primera consulta de 1,96. En neuropediatria, se atendieron el 23,49% de todas las consultas pediatricas realizadas en el hospital. La tasa media de primeras consultas en el periodo de estudio fue de 72,86/1.000 niños. Los principales motivos de consulta fueron los problemas de aprendizaje/trastornos de conducta (24,1%), seguidos de cefalea (21,9%), episodios paroxisticos (14,8%) y retraso del desarrollo psicomotor (9%). Conclusiones. El incremento en la demanda asistencial de la neuropediatria ha resultado claramente superior al de las otras especialidades pediatricas que llevan en funcionamiento el mismo periodo. En los cinco años de estudio, la tasa de primeras visitas se ha triplicado. Esta sobrecarga asistencial podria condicionar la atencion a los pacientes con patologia neurologica grave. Serian necesarios estudios similares en diferentes regiones para conocer la realidad de la neuropediatria española.

Incontinentia pigmenti con inicio clínico atípico / Atypical onset of incontinentia pigmenti

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Structural and surface analysis of unsupported and alumina-supported La(Mn,Fe,Mo)O3 perovskite oxides.

A series of bulk and Al(2)O(3)-supported perovskite oxides of the type LaMn(1-x-y)Fe(x)Mo(y)O(3) (x = 0.00-0.90 and y = 0.00-0.09) were synthesized by the citric acid complexation-gelation method followed by annealing in air at 800 degrees C. For all samples, the local environment and the chemical state and concentration of surface species were determined. Mössbauer spectra revealed the only presence of octahedral Fe(3+) ions dispersed in the perovskite structure, however well-crystallized together with a poorly crystalline LaFeO(3) phases were detected for larger substitutions (x = 0.90). A similar picture was obtained for Mo-loaded (y = 0.02 and 0.05) samples but a new phase most likely related to Fe(3+) ions dispersed aside from the perovskite structure was found for larger substitutions (y = 0.09). Together with these structures, supported samples showed the presence of LaFeO(3) nanoparticles. Finally, photoelectron spectroscopy indicated that the chemical state and composition of the samples in the surface region (2-3 nm) approaches that of the bulk. For the unsupported substituted samples, iron (and molybdenum) enters into the perovskite structure while manganese tends to be slightly segregated. Moreover, in supported perovskites, a fraction of Mo and La atoms interact with the alumina surface. All these oxides were active in methane combustion and best performance was recorded for the Fe-rich composition (x = 0.9) in which both Mn(3+) and Mo(3+) ions were in the same proportion (y = 0.05).

Novel highly reactive and regenerable carbon/iron composites prepared from tar and hematite for the reduction of Cr(VI) contaminant.

Highly reactive carbon/Fe composites were prepared from tar used as a carbon source, and hematite (alpha-Fe(2)O(3)), a widespread naturally available iron oxide. Tar was impregnated on hematite and thermally treated under N(2) atmosphere. Mössbauer, powder X-ray diffraction and magnetization data suggested that treatment at 400 and 600 degrees C produced only magnetite (Fe(3)O(4)) whereas at 800 degrees C mainly metallic iron (Fe(0)) was produced. Raman, TG and XRD analyses of the different composites revealed the presence of amorphous and graphitic carbon highly dispersed on the iron oxide surface. The composites obtained at 800 degrees C were very efficient in reducing aqueous Cr(VI), as CrO(4)(2-), even compared to finely ground commercial Fe(0). XPS and Mössbauer data showed that after five consecutive reuses, the composites deactivated, due to the surface oxidation of Fe(0). A simple treatment at 800 degrees C completely regenerated the composite by reducing Fe(3+) species allowing several reuses.

A new player in cartilage homeostasis: adiponectin induces nitric oxide synthase type II and pro-inflammatory cytokines in chondrocytes.

OBJECTIVE: Recent studies revealed a close connection between adipose tissue, adipokines and articular degenerative inflammatory diseases such as rheumatoid arthritis (RA) and osteoarthritis (OA). The goal of this work was to investigate the activity of adiponectin in human and murine chondrocytes and to study its functional role in the modulation of nitric oxide synthase type II (NOS2). For completeness, interleukin (IL)-6, IL-1beta, matrix metalloproteinase (MMP)-2, MMP-3, MMP-9, tissue inhibitor of metalloproteinase (TIMP)-1, prostaglandin E2 (PGE2), leukotriene B4 (LTB4), tumor necrosis factor alpha (TNF)-alpha and monocyte chemoattractant protein-1 (MCP-1) accumulation have been evaluated in adiponectin-stimulated chondrocytes cell culture supernatants. METHODS: Murine ATDC5 cell line, C28/I2, C20A4, TC28a2 human immortalized chondrocytes, and human cultured chondrocytes were used. Nitrite accumulation was determined by Griess reaction. Adiponectin receptors (AdipoRs) expression was evaluated by immunofluorescence microscopy and confirmed by reverse transcriptase-polymerase chain reaction. NOS2 expression was evaluated by Western blot analysis whereas cytokines, prostanoids and metalloproteinases production was evaluated by specific enzyme-linked immunosorbent assays. RESULTS: Human and murine chondrocytes express functional AdipoRs. Adiponectin induces NOS2. This effect is inhibited by aminoguanidine, dexamethasone and by a selective inhibitor of phosphatidylinositol 3-kinase. In addition, adiponectin is able to increase IL-6, MMP-3, MMP-9 and MCP-1 by murine cultured chondrocytes whereas it was unable to modulate TNF-alpha, IL-1beta, MMP-2, TIMP-1, PGE2 and LTB4 release. CONCLUSIONS: These results bind more closely the interactions between fat-derived adipokines and articular inflammatory diseases, and suggest that adiponectin is a novel key element in the maintenance of cartilage homeostasis which might be considered as a potential therapeutical target in joint degenerative diseases.

Towards a pro-inflammatory and immunomodulatory emerging role of leptin.

Leptin is a 16 kDa adipocyte-secreted hormone that regulates weight centrally and links nutritional status with neuroendocrine and immune function. Since its cloning in 1994, leptin's role in regulating immune and inflammatory response has become increasingly evident. Actually, the increase of leptin production that occurs during infection and inflammation strongly suggests that leptin is a part of the cytokines loop which governs the inflammatory-immune response and the host defence mechanism. Indeed, leptin stimulates the production of pro-inflammatory cytokines from cultured monocytes and enhances the production of Th1 type cytokines from stimulated lymphocytes. Several studies have implicated leptin in the pathogenesis of autoimmune inflammatory conditions such as type 1 diabetes, rheumatoid arthritis and chronic bowel disease. Obesity is characterized by elevated circulating leptin levels which might contribute significantly to the so called low-grade systemic inflammation, making obese individuals more susceptible to the increased risk of developing cardiovascular diseases, type II diabetes or inflammatory articular degenerative disease such as osteorathritis (OA). As a matter of fact, a key role for leptin in OA has been recently demonstrated since leptin exhibits, in synergy with other pro-inflammatory cytokines, a detrimental effect on articular cartilage cells by promoting nitric oxide synthesis. This review will focus prevalently on the complex relationships existing among leptin, inflammatory response and immunity, trying to provide surprising insights into leptin's role and to discuss challenges and prospects for the future.