[Descriptive analysis of the electroencephalogram in Angelman syndrome]. / Análisis descriptivo del electroencefalograma en el síndrome de Angelman.

INTRODUCTION: Angelman syndrome is a neurodevelopmental disorder of genetic origin, with important clinical motor, behavioural, communicative and electroencephalographic manifestations, with particular relevance as regards the presence of epileptic seizures. AIMS: To describe the electroencephalographic characteristics (qualitatively and quantitatively) of patients diagnosed with Angelman syndrome and to determine the electroencephalographic profile according to age and genetic alteration. PATIENTS AND METHODS: A retrospective observational study in which the demographic, clinical and electroencephalographic characteristics of 51 patients with Angelman syndrome were analysed. RESULTS: A higher delta power was evident in all brain regions, with a maximum peak in the frontopolar and temporal regions, and a lower power in the alpha and beta frequency range in all regions, with a greater preponderance in younger patients, and a trend that decreases with age. The coherence showed a predominance of delta and theta in the frontopolar region, which was higher for all frequencies in the deletion group, where delta was predominant, especially in the frontopolar region. CONCLUSION: The electroencephalogram could be a useful biomarker as a qualitative and quantitative tool in the investigation of Angelman syndrome and in measuring the response to possible therapies under investigation.

TITLE: Análisis descriptivo del electroencefalograma en el síndrome de Angelman.Introducción. El síndrome de Angelman es un trastorno del neurodesarrollo de origen genético, con importantes manifestaciones clínicas motoras, conductuales, comunicativas y electroencefalográficas, con especial relevancia en lo que concierne a la presencia de crisis epilépticas. Objetivos. Describir las características electroencefalográficas (cualitativa y cuantitativamente) de los pacientes con diagnóstico de síndrome de Angelman y determinar el perfil electroencefalográfico según la edad y la alteración genética. Pacientes y métodos. Estudio observacional retrospectivo donde se analizaron las características demográficas, clínicas y electroencefalográficas de 51 pacientes con síndrome de Angelman. Resultados. Se evidenció una mayor potencia delta en todas las regiones cerebrales, con un pico máximo en las regiones frontopolar y temporal, y una menor potencia en el rango de frecuencias alfa y beta en todas las regiones, con mayor preponderancia en los pacientes más jóvenes, con tendencia decreciente con la edad. La coherencia mostró un predominio delta y theta en la región frontopolar, que fue mayor para todas las frecuencias en el grupo de deleción, con predominio delta, especialmente en la región frontopolar. Conclusión. El electroencefalograma podría ser un biomarcador útil como herramienta cualitativa y cuantitativa en la investigación del síndrome de Angelman y en la medición de la respuesta a eventuales terapias en investigación.

Spanish Guidelines for Diagnosis, Management, Treatment, and Prevention of DRESS Syndrome.

BACKGROUND AND OBJECTIVE: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a complex multisystemic severe drug hypersensitivity reaction whose diagnosis and management are troublesome. DRESS syndrome requires management by various specialists. The correct identification of the culprit drug is essential to ensure safe future therapeutic options for the patient. There are no previous Spanish guidelines or consensus statements on DRESS syndrome. Objective: To draft a review and guidelines on the clinical diagnosis, allergy work-up, management, treatment, and prevention of DRESS syndrome in light of currently available scientific evidence and the experience of experts from multiple disciplines. METHODS: These guidelines were drafted by a panel of allergy specialists from the Drug Allergy Committee of the Spanish Society of Allergy and Clinical Immunology (SEAIC), together with other medical specialists involved in the management of DRESS syndrome and researchers from the PIELenRed consortium. A review was conducted of scientific papers on DRESS syndrome, and the expert panel evaluated the quality of the evidence of the literature and provided grades of recommendation. Whenever evidence was lacking, a consensus was reached among the experts. RESULTS: The first Spanish guidelines on DRESS syndrome are now being published. Important aspects have been addressed, including practical recommendations about clinical diagnosis, identification of the culprit drug through the Spanish pharmacovigilance system algorithm, and the allergy work-up. Recommendations are provided on management, treatment, and prevention. Algorithms for the management of DRESS in the acute and recovery phases have been drawn up. Expert consensus-based stepwise guidelines for the management and treatment of DRESS syndrome are provided.

Spanish guidelines for diagnosis, management, treatment, and prevention of DRESS syndrome

BACKGROUND: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a complex multisystemic severe drug hypersensitivity reaction whose diagnosis and management are troublesome. DRESS syndrome requires management by various specialists. The correct identification of the culprit drug is essential to ensure safe future therapeutic options for the patient. There are no previous Spanish guidelines or consensus statements on DRESS syndrome. OBJECTIVE: To draft a review and guidelines on the clinical diagnosis, allergy work-up, management, treatment, and prevention of DRESS syndrome in light of currently available scientific evidence and the experience of experts from multiple disciplines. METHODS: These guidelines were drafted by a panel of allergy specialists from the Drug Allergy Committee of the Spanish Society of Allergy and Clinical Immunology (SEAIC), together with other medical specialists involved in the management of DRESS syndrome and researchers from the PIELenRed consortium. A review was conducted of scientific papers on DRESS syndrome, and the expert panel evaluated the quality of the evidence of the literature and provided grades of recommendation. Whenever evidence was lacking, a consensus was reached among the experts. RESULTS: The first Spanish guidelines on DRESS syndrome are now being published. Important aspects have been addressed, including practical recommendations about clinical diagnosis, identification of the culprit drug through the Spanish pharmacovigilance system algorithm, and the allergy work-up. Recommendations are provided on management, treatment, and prevention. Algorithms for the management of DRESS in the acute and recovery phases have been drawn up. Expert consensus-based stepwise guidelines for the management and treatment of DRESS syndrome are provided

ANTECEDENTES: El síndrome DRESS (Drug Reaction with Eosinophilia and Systemic Symptoms) es una reacción cutánea grave inducida por hipersensibilidad a fármacos, compleja y multisistémica. Su diagnóstico y manejo es difícil e implica a diferentes especialistas. Es muy importante una correcta identificación del fármaco responsable para que el paciente disponga de opciones terapéuticas seguras en el futuro. No hay guías ni documentos de consenso españoles previos sobre el síndrome DRESS. OBJETIVO: Realizar una revisión y guía sobre el diagnóstico clínico y alergológico, manejo, tratamiento y prevención del DRESS según la evidencia científica disponible y la experiencia de expertos de diferentes especialidades médicas. MÉTODOS: Esta guía ha sido elaborada por un grupo de alergólogos del Comité de Alergia a Fármacos de la SEAIC, junto a otros especialistas involucrados en el manejo del DRESS e investigadores del Consorcio PIELenRed. Se realizó una búsqueda de publicaciones científicas sobre DRESS y el grupo de expertos evaluó la evidencia científica de la literatura y aportaron grados de recomendación. Cuando no existía evidencia se alcanzó un consenso entre expertos. RESULTADOS: Se publica la guía española sobre DRESS. Incluye aspectos prácticos importantes sobre el diagnóstico clínico, la identificación de fármacos causales a través del algoritmo del Sistema Español de Farmacovigilancia y guía para el diagnóstico alergológico. Se realizan recomendaciones sobre el manejo, tratamiento y prevención del DRESS. Se aportan algoritmos sobre el manejo en la fase aguda y en la de recuperación. Se ha elaborado una guía terapéutica escalonada consensuada por expertos especialistas implicados en el tratamiento del DRESS

Hepatocyte growth factor and chronic hepatitis C.

OBJECTIVE: The hepatocyte growth factor (HGF) is a pleiotropic cytokine produced by hepatic stellate cells and implicated in liver regeneration and fibrosis. Serum levels of HGF vary in liver diseases, reflecting hepatic damage and hepatocellular dysfunction. In this study, serum levels of HGF and the relationship between HGF and biochemical, histological and virological data, have been analysed in patients suffering from chronic hepatitis C (CHC). PATIENTS AND METHODS: Serum HGF concentration was measured by ELISA in sandwich in 45 patients with CHC. Correlation between HGF levels and histological (necroinflammatory activity and fibrosis score) and biochemical (transaminases, prothrombin activity, albumin, bilirubin), or virological (hepatitis C virus load) parameters was analyzed. Serum HGF concentration was also studied in a subgroup of the original sample treated with interferon and ribavirin. RESULTS: Sserum HGF concentrations of patients with CHC were significantly higher than those detected in healthy controls. Patients with significant fibrosis (F > or = 2) had a significantly older age, lower count of platelets and higher values of AST, GGT and HGF, than those patients with a fibrosis score F < 2. HGF concentration was identified by multivariate analysis as the only independent factor associated with significant fibrosis. Moreover, area under receiver operating curve, using HCG levels, showed similar values to those of previously validated non-invasive indexes of fibrosis. However, levels of HGF did not show a significant decrease in patients with a sustained response to anti-virus C therapy. CONCLUSION: Serum HGF concentration correlates with fibrosis score in patients with CHC, but is insensitive to monitor changes induced by anti-virus C therapy.

Factor de crecimiento hepatocitario y hepatitis crónica C / No disponible

Objetivo: el factor de crecimiento hepatocitario (HGF) es una citocinapleiotrópica producida por las células estrelladas hepáticas,que está implicada en la regeneración y la fibrosis hepática. La concentraciónsérica del HGF en las enfermedades hepáticas es variable,reflejando daño hepático y disfunción hepatocelular. En este estudiose ha analizado la concentración sérica del HGF en pacientes conhepatitis crónica por virus de la hepatitis C (VHC) y su relación conlos datos bioquímicos, histológicos y virológicos.Pacientes y métodos: se determinó la concentración séricade HGF mediante ELISA en sándwich y se analizó la correlaciónentre los niveles del HGF y los datos histológicos (actividad necroinflamatoria,estadio de fibrosis), bioquímicos (transaminasas,actividad de protrombina, albúmina, bilirrubina) y virológicos (cargaviral VHC) en 45 pacientes con hepatitis crónica C (HCC).También fueron evaluadas las cifras del HGF en el suero de unsubgrupo de pacientes de la muestra original sometidos a tratamientoantiviral con interferón y ribavirina.Resultados: la concentración sérica del HGF en pacientescon HCC fue significativamente mayor que la medida en controlessanos. Los pacientes con fibrosis hepática significativa (F ≥ 2) teníanuna edad significativamente mayor, unas cifras plaquetariassignificativamente inferiores y concentraciones séricas significativamentesuperiores de AST, GGT y HGF, en comparación conaquellos pacientes con un índice de fibrosis F < 2. En el análisismultivariante la concentración de HGF fue la única variable independienteasociada a la fibrosis significativa. El área bajo la curvaROC (receiver operating curve), usando las concentraciones séricasde HGF, mostró valores similares a los obtenidos con otros índices,previamente validados, que estiman fibrosis significativa enpacientes con HCC...(AU)

Objective: the hepatocyte growth factor (HGF) is a pleiotropiccytokine produced by hepatic stellate cells and implicated in liverregeneration and fibrosis. Serum levels of HGF vary in liver diseases,reflecting hepatic damage and hepatocellular dysfunction.In this study, serum levels of HGF and the relationship betweenHGF and biochemical, histological and virological data, have beenanalysed in patients suffering from chronic hepatitis C (CHC).Patients and methods: serum HGF concentration was measuredby ELISA in sandwich in 45 patients with CHC. Correlationbetween HGF levels and histological (necroinflammatory activityand fibrosis score) and biochemical (transaminases, prothrombinactivity, albumin, bilirubin), or virological (hepatitis C virus load)parameters was analyzed. Serum HGF concentration was alsostudied in a subgroup of the original sample treated with interferonand ribavirin.Results: sserum HGF concentrations of patients with CHCwere significantly higher than those detected in healthy controls. Patientswith significant fibrosis (F ≥ 2) had a significantly older age,lower count of platelets and higher values of AST, GGT and HGF,than those patients with a fibrosis score F < 2. HGF concentrationwas identified by multivariate analysis as the only independent factorassociated with significant fibrosis. Moreover, area under receiveroperating curve, using HCG levels, showed similar values to thoseof previously validated non-invasive indexes of fibrosis. However,levels of HGF did not show a significant decrease in patients with asustained response to anti-virus C therapy.Conclusion: serum HGF concentration correlates with fibrosisscore in patients with CHC, but is insensitive to monitorchanges induced by anti-virus C therapy(AU)

Modulation of the anti-inflammatory interleukin 10 and of proapoptotic IL-18 in patients with chronic hepatitis C treated with interferon alpha and ribavirin.

The aim of this work was to analyse apoptosis rate, measured by the serum levels of proapoptotic interleukin (IL)-18 and of soluble Fas (sFas), as well as of anti-inflammatory IL-10, in patients with chronic hepatitis C, at baseline and after treatment with interferon alpha and ribavirin. Twenty-seven patients with biopsy-proven chronic hepatitis C were studied, at baseline and after treatment with interferon alpha (21 cases) or pegylated interferon (6 cases) plus ribavirin. A group of 15 healthy sex- and age-matched individuals was selected as control. Serum concentrations of sFas, IL-10 and IL-18 were determined by ELISA in sandwich. The relationship of these molecules to necro-inflammatory and fibrotic activity was evaluated. Evolution of the serum concentrations of these molecules was analysed after treatment. Significantly increased serum concentrations of sFas were detected in patients with chronic hepatitis, compared with controls. Levels of this molecule were significantly correlated with necroinflammatory activity. Likewise, concentrations of IL-10 were significantly increased in the group of patients, compared with controls. Treatment with interferon and ribavirin induced a significant decrease of IL-18 concentration independently of the viral response. In contrast, levels of sFas decreased only in those patients with sustained response to therapy. Finally, baseline levels of IL-10 were significantly increased in patients without response to treatment, compared with those with sustained response, but the concentration did not change with the treatment. Increased serum levels of IL-10 are a negative prognostic marker of response to hepatitis C treatment. A significant decrease of apoptotic rate, as determined by sFas, can be expected in patients with a response to therapy.

Tumor mucinoso papilar intraductal pancreático / Pancreatic intraductal papillary mucinous tumor

No disponible