Utilidad del índice kappa en el diagnóstico de esclerosis múltiple y validación de valores de referencia en la Comunidad de Aragón / Usefulness of the kappa index in the diagnosis of multiple sclerosis and validation of reference values in the Community of Aragon

Introducción: La determinación de bandas oligoclonales (BOC) en el líquido cefalorraquídeo es esencial para el diagnóstico de esclerosis múltiple (EM). El índice kappa es un biomarcador con una sensibilidad y una especificidad comparables a las de las BOC. El objetivo de este trabajo fue estudiar su utilidad y calcular el punto de corte óptimo. Material y métodos. Estudio observacional de muestras recibidas en el servicio de inmunología de referencia para Aragón entre enero de 2019 y junio de 2020. Se determinó el valor del índice kappa y el índice IgG. Se trazaron y compararon curvas ROC frente a la detección de BOC y el diagnóstico de EM. Se calcularon valores de sensibilidad y especificidad y el punto de corte óptimo. Resultados: Se analizaron 181 pacientes (59,7%, mujeres; edad media, 47,62 ± 17,8 años). El grupo de EM demostró valores estadísticamente superiores de índice kappa (66,62 frente a 0,02; p < 0,001). En el análisis de curvas ROC, el índice kappa demostró un área bajo la curva superior al índice IgG en la detección de BOC+ (0,93 frente a 0,83; p < 0,002) y el diagnóstico de EM (0,91 frente a 0,83; p < 0,021). El punto de corte óptimo del índice kappa para la detección de BOC fue 5,02 (sensibilidad y especificidad, 0,92) y 7,58 para el diagnóstico de EM (sensibilidad, 0,85; especificidad, 0,94). Conclusiones: El índice kappa es un biomarcador útil en el diagnóstico de la EM. Su determinación es un proceso automático y rápido, con valores de sensibilidad y especificidad superiores al índice IgG. Todavía se debe llegar a un consenso sobre el punto de corte óptimo para su positividad, si bien, en nuestro medio, un punto de corte de 5,02 parece razonable.(AU)

INTRODUCTION: Detection of oligoclonal bands (OCB) in CSF is essential in the diagnosis of multiple sclerosis (MS). Kappa-index is a promising biomarker, with sensitivity and sensibility values comparable to those of OCB. Our objective was to investigate kappa-index utility in the diagnosis work-up for MS and to determine the optimal cut-off point for our population. Material and methods. Observational study of consecutive samples received in the Immunology lab department in a third level hospital between January 2019 to June 2020. Kappa-index and IgG index were measured. ROC analysis for screening of OCB and for diagnosis of MS was conducted. Sensibility, specificity and the optimal cut-off points were determined. RESULTS: 181 samples were included (59.7% females; age, 47.62 ± 17.8 years). Patients in the EM group presented significantly higher kappa-index level than patients without an EM diagnosis (66.62 versus 0.02; p < 0.001). ROC analysis reported a better area under the curve for the kappa-index than the IgG index for the detection of BOC (0.93 versus 0.83; p < 0.002) and the diagnosis of EM (0.91 versus 0.83; p < 0.021). An optimal cut-off point of 5.02 was determined for the detection of BOC (sensibility and specificity, 0.92) and of 7.58 for the diagnosis of EM (sensibility, 0.85; specificity, 0.94). CONCLUSIONS: Kappa-index is an useful biomarker in the diagnosis of MS. Its specificity and sensibility are superior to the IgG index. The optimal cut-off point has yet to be determined, but for our population a cut-off of 5.02 seems reasonable.(AU)

[Usefulness of the kappa index in the diagnosis of multiple sclerosis and validation of reference values in the Community of Aragon]. / Utilidad del índice kappa en el diagnóstico de esclerosis múltiple y validación de valores de referencia en la Comunidad de Aragón.

INTRODUCTION: Detection of oligoclonal bands (OCB) in CSF is essential in the diagnosis of multiple sclerosis (MS). Kappa-index is a promising biomarker, with sensitivity and sensibility values comparable to those of OCB. Our objective was to investigate kappa-index utility in the diagnosis work-up for MS and to determine the optimal cut-off point for our population. MATERIAL AND METHODS: Observational study of consecutive samples received in the Immunology lab department in a third level hospital between January 2019 to June 2020. Kappa-index and IgG index were measured. ROC analysis for screening of OCB and for diagnosis of MS was conducted. Sensibility, specificity and the optimal cut-off points were determined. RESULTS: 181 samples were included (59.7% females; age, 47.62 ± 17.8 years). Patients in the EM group presented significantly higher kappa-index level than patients without an EM diagnosis (66.62 versus 0.02; p < 0.001). ROC analysis reported a better area under the curve for the kappa-index than the IgG index for the detection of BOC (0.93 versus 0.83; p < 0.002) and the diagnosis of EM (0.91 versus 0.83; p < 0.021). An optimal cut-off point of 5.02 was determined for the detection of BOC (sensibility and specificity, 0.92) and of 7.58 for the diagnosis of EM (sensibility, 0.85; specificity, 0.94). CONCLUSIONS: Kappa-index is an useful biomarker in the diagnosis of MS. Its specificity and sensibility are superior to the IgG index. The optimal cut-off point has yet to be determined, but for our population a cut-off of 5.02 seems reasonable.

TITLE: Utilidad del índice kappa en el diagnóstico de esclerosis múltiple y validación de valores de referencia en la Comunidad de Aragón.Introducción. La determinación de bandas oligoclonales (BOC) en el líquido cefalorraquídeo es esencial para el diagnóstico de esclerosis múltiple (EM). El índice kappa es un biomarcador con una sensibilidad y una especificidad comparables a las de las BOC. El objetivo de este trabajo fue estudiar su utilidad y calcular el punto de corte óptimo. Material y métodos. Estudio observacional de muestras recibidas en el servicio de inmunología de referencia para Aragón entre enero de 2019 y junio de 2020. Se determinó el valor del índice kappa y el índice IgG. Se trazaron y compararon curvas ROC frente a la detección de BOC y el diagnóstico de EM. Se calcularon valores de sensibilidad y especificidad y el punto de corte óptimo. Resultados. Se analizaron 181 pacientes (59,7%, mujeres; edad media, 47,62 ± 17,8 años). El grupo de EM demostró valores estadísticamente superiores de índice kappa (66,62 frente a 0,02; p menor de 0,001). En el análisis de curvas ROC, el índice kappa demostró un área bajo la curva superior al índice IgG en la detección de BOC+ (0,93 frente a 0,83; p menor de 0,002) y el diagnóstico de EM (0,91 frente a 0,83; p menor de 0,021). El punto de corte óptimo del índice kappa para la detección de BOC fue 5,02 (sensibilidad y especificidad, 0,92) y 7,58 para el diagnóstico de EM (sensibilidad, 0,85; especificidad, 0,94). Conclusiones. El índice kappa es un biomarcador útil en el diagnóstico de la EM. Su determinación es un proceso automático y rápido, con valores de sensibilidad y especificidad superiores al índice IgG. Todavía se debe llegar a un consenso sobre el punto de corte óptimo para su positividad, si bien, en nuestro medio, un punto de corte de 5,02 parece razonable.

[Epilepsy onset between one month and three months of life: our 11 years experience]. / Epilepsia de inicio entre el mes y los tres meses de vida: nuestra experiencia de 11 años.

INTRODUCTION: The prognosis of epilepsy is basically determined by its aetiology. Early onset of seizures is generally associated with poor progress. MATERIAL AND METHODS: We review our experience in epilepsy with children born after 1 January 1997 and who had their first seizure between 1 and 3 months of age before January 2008. RESULTS: Eighteen cases diagnosed with epilepsy and a first seizure between 1 and 3 months of age were included. One case was within the Dravet syndrome spectrum with the c829 T>G c277G heterozygous mutation of the SCN1A gene. Four were cryptogenic epilepsies and thirteen were asymptomatic: 2 were inborn errors of metabolism (biotinidase deficiency with a response to biotin and Leigh's syndrome); 2 were of infectious origin and the remaining nine prenatal encephalopathy. Nine (50%) currently have a severe psychomotor delay and 2 died. The cryptogenic cases had a relatively poor progress. CONCLUSIONS: Our experience corroborates the poor prognosis associated with early onset, between 1 and 3 months, of epileptic seizures. Given the wide aetiological range and the poor prognosis in the absence of specific treatment, an appropriate diagnostic-therapeutic strategy is required to avoid diagnostic uncertainties and can identify potentially treatable cases, such as some inborn errors of metabolism. In this age group, the protocol for convulsions of unknown cause must be the same as that for neonatal convulsions, including treatment with a vitamin cocktail, after collecting biological samples.

Epilepsia de inicio entre el mes y los tres meses de vida: nuestra experiencia de 11 años / Epilepsy onset between one month and three months of life: our 11 years experience

Introducción: El pronóstico de la epilepsia está determinado fundamentalmente por la etiología; se asocia en general peor evolución con comienzo precoz de las crisis. Material y métodos: Se revisa nuestra experiencia en epilepsia en niños nacidos después del 1-1-1997 y que presentaron la primera crisis antes de enero de 2008 a los 1-3 meses de edad. Resultados: Se incluyen 18 casos con el diagnóstico de epilepsia y primera crisis entre 1 y 3 meses de edad. Un caso corresponde al espectro de síndrome de Dravet con la mutación en heterocigosis c829 T>G c277G del gen SCN1A. Cuatro son epilepsias criptogénicas y 13, sintomáticas: 2 errores congénitos del metabolismo (deficiencia de biotinidasa con respuesta a biotina y síndrome de Leigh), 2 de etiología infecciosa y los 9 restantes, encefalopatías prenatales; 9 (50%) tienen un grave retraso psicomotor en la actualidad y 2 fallecieron. En comparación, los casos criptogénicos tuvieron peor evolución. Conclusiones: Nuestra experiencia corrobora el mal pronóstico asociado al inicio precoz, entre 1 y 3 meses, de las crisis epilépticas. Dado el amplio abanico etiológico y el pronóstico sombrío, en ausencia de tratamiento específico, es obligada una adecuada estrategia diagnóstico-terapéutica que evite incertidumbres diagnósticas e identifique casos potencialmente tratables como algunos errores congénitos del metabolismo. En este grupo de edad el protocolo de convulsiones de causa no aclarada debe ser el mismo que el de las convulsiones neonatales, incluido el tratamiento con cóctel vitamínico, tras la recogida de muestras biológicas (AU)

Introduction: The prognosis of epilepsy is basically determined by its aetiology. Early onset of seizures is generally associated with poor progress.Material and methods: We review our experience in epilepsy with children born after 1 January 1997 and who had their first seizure between 1 and 3 months of age before January 2008.Results: Eighteen cases diagnosed with epilepsy and a first seizure between 1 and 3 months of age were included. One case was within the Dravet syndrome spectrum with the c829 T>G c277G heterozygous mutation of the SCN1A gene. Four were cryptogenic epilepsies and thirteen were asymptomatic: 2 were inborn errors of metabolism (biotinidase deficiency with a response to biotin and Leigh’s syndrome); 2 were of infectious origin and the remaining nine prenatal encephalopathy. Nine (50%) currently have a severe psychomotor delay and 2 died. The cryptogenic cases had a relatively poor progress.Conclusions: Our experience corroborates the poor prognosis associated with early onset, between 1 and 3 months, of epileptic seizures. Given the wide aetiological range and the poor prognosis in the absence of specific treatment, an appropriate diagnostic-therapeutic strategy is required to avoid diagnostic uncertainties and can identify potentially treatable cases, such as some inborn errors of metabolism. In this age group, the protocol for convulsions of unknown cause must be the same as that for neonatal convulsions, including treatment with a vitamin cocktail, after collecting biological samples (AU)

Evaluación del protocolo de punción lumbar diagnóstica en urgencias / Evaluation of the protocol for diagnostic lumbar puncture in the emergency department

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Absceso cerebral por Mycobacterium tuberculosis / Brain abscess due to Mycobacterium tuberculosis

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[Early care and botulinum toxin. Our experience in the 21st century]. / Atención temprana y toxina botulínica.Nuestra experiencia en el siglo XXI.

INTRODUCTION: 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. PATIENTS AND METHODS: 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. RESULTS: 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%. CONCLUSIONS: 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.

[Neuropaediatrics and primary care. Our experience in the 21st century]. / Neuropediatría y atención primaria.Nuestra experiencia en el siglo XXI.

INTRODUCTION: 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. PATIENTS AND METHODS: 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. RESULTS: 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%). CONCLUSIONS: 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.

Atención temprana y toxina botulínica. Nuestra experiencia en el siglo XXI / Early care and botulinum toxin our experience in the 21ST century

Introducción. En neuropediatría, el diagnóstico etiológico pocas veces permite un tratamiento causal. En muchas ocasiones sólo podemos ofrecer la derivación a atención temprana (AT) y la toxina botulínica tipo A (TBA). Ambas intervenciones sólo precisan para su inicio el diagnóstico funcional o sindrómico. Pacientes y métodos. Se analiza la experiencia enel programa de AT para Aragón desde febrero de 2003 y con la consulta de TBA de la Unidad de Neuropediatría del Hospital Universitario Miguel Servet desde noviembre de 2003. Resultados. El número de solicitudes al programa de AT hasta finales de 2007 ascendía a 2.629, y en 2007 se atendía a 702 niños. En cuatro años y cuatro meses se ha infiltrado con TBA a 122 niñoscon parálisis cerebral infantil, con resultados positivos del 70%, y efectos adversos leves y transitorios del 13,1%. Conclusiones. La AT y la TBA se perciben con alta satisfacción por niños, padres y profesionales implicados. La neuropediatría es una de las especialidades médicas más adecuadas en los equipos de atención temprana (CDIAT). El neuropediatra participaen todas las etapas de AT: detección, diagnóstico, información e intervención. Puede ser el elemento coordinador y homogeneizador de la AT, el enlace entre CDIAT y servicios sanitarios. Es necesario en programas de formación y docencia de AT, en campañas de sensibilización, información y formación de familias, atención primaria, servicios sociales y guarderías.El tratamiento con TBA no puede entenderse como una técnica aislada, sino dentro de un programa donde son fundamentales fisioterapia, ortesis y, en ocasiones, cirugía. Es imprescindible la coordinación con los profesionales implicados en el tratamientodel niño con parálisis cerebral infantil

Introduction. 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. Patients and methods. Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA servicein the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003. Results. 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. Infour 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%. Conclusions. 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 andearly intervention centres (CDIAT). The neuropaedia-trician 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 familytraining, 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 absolutelycrucial

Neuropediatría y atención primaria. Nuestra experiencia en el siglo XXI / Neuropaediatrix and primary care our experience in the 21ST century

Introducción. La calidad asistencial de gran parte de la neuropediatría se beneficia de una adecuada comunicacióny de estrategias consensuadas con los pediatras de atención primaria (AP). Pacientes y métodos. Se analizan los niños valorados en la consulta de neuropediatría del Hospital Universitario Miguel Servet de Zaragoza en ocho años y se exponen las líneas más importantes de actuación en los problemas más prevalentes. Resultados. El 86% de las primeras visitas se reparteentre ocho motivos de consulta: trastornos paroxísticos (33%), cefalea (27%), retraso psicomotor (11,5%), alteraciones de la forma o tamaño de la cabeza (5,6%), problemas escolares y/o atención deficiente (4,5%), alteraciones del comportamiento (4,25%), trastornos de la marcha (3,5%) y sufrimiento perinatal (3,4%). Los diagnósticos más frecuentes son cefaleas/migrañas(26%), trastornos paroxísticos no epilépticos (16,5%), encefalopatía prenatal (10,5%), epilepsia (8%), retardo mental (7,5%), parálisis cerebral infantil (4,6%), trastorno por déficit de atención con hiperactividad (TDAH) criptogénico (3,8%) y autismo criptogénico (3,6%). Conclusiones. El pediatra de AP cercano a los niños y sus familias en todos los casos es el principalresponsable del seguimiento de algunos de los problemas más prevalentes, como cefaleas, muchos trastornos paroxísticos no epilépticos y TDAH. Los procesos deben estar establecidos, claramente explicitados, basados en las mejores evidencias, con la participación y al alcance de todos los profesionales involucrados, en beneficio de la homogeneidad y reducida variabilidadde las actuaciones. Es necesario establecer vías de comunicación, incluidas las tecnologías de la información y comunicación para una continua actualización y el mejor control de los pacientes

Introduction. The quality of the health care in a major part of neuropaediatrics benefits from appropriatecommunication and strategies that have been agreed with primary care (PC) paediatricians. Patients and methods.We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over aperiod of eight years and we also discuss the most important courses of action followed in the most prevalent problems. Results. 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 areheadaches/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%). Conclusions. The PC paediatrician working in close relation with the children and theirfamilies 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 favourhomogeneity 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

Angioedema orolingual secundario al tratamiento con alteplasa en el ictus / Orolingual angiooedema secondary to alteplase treatment in cases of stroke

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