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1.
Rev Neurol ; 76(7): 217-226, 2023 04 01.
Artigo em Espanhol | MEDLINE | ID: mdl-36973885

RESUMO

INTRODUCTION: Angelman syndrome (AS) is widely described in childhood, but few studies have been conducted in adulthood and most of them report a small number of patients or specific conditions, such as epilepsy or sleep. AIM: The aim of this study is to describe AS in adulthood in our centre, the special needs it requires, and the medical and social support to improve care and to provide a better transition from the paediatric service to units for adults. PATIENTS AND METHODS: We collected patients with genetically confirmed AS, and described demographic, medical and social data by reviewing medical records, telephone interviews with the primary caregiver and three standardised sleep, dependency and quality of life scales. RESULTS: Thirty patients with a median age of 22.7 years were included: 22 were deletions, 27 had a history of epilepsy and 13 were on treatment involving at least two antiepileptic drugs. The most frequent comorbidities after epilepsy were psychiatric symptoms, scoliosis, overweight, constipation and ophthalmological problems. Forty per cent required hospital admissions in adulthood, five were institutionalised and 24 received non-medical therapies. The doctor in charge was the neurologist in most cases, followed by the neuropaediatrician. CONCLUSIONS: Studies that examine the natural history beyond childhood are warranted. This is the first Spanish review of adults with AS that covers a broad spectrum of social and medical conditions of these patients.


TITLE: Síndrome de Angelman en el adulto.Introducción. El síndrome de Angelman (SA) está ampliamente descrito en la infancia, pero existen escasos estudios en edad adulta y la mayoría recoge un pequeño número de pacientes o condiciones específicas, como epilepsia o sueño. Objetivo. El objetivo de este estudio es describir el SA en la edad adulta en nuestro centro, sus necesidades especiales, y el soporte médico y social para mejorar la atención y ofrecer una mejor transición del servicio de pediatría a las unidades de adultos. Pacientes y métodos. Se recogen pacientes con SA genéticamente confirmado, y describimos datos demográficos, médicos y sociales mediante la revisión de historias clínicas, entrevistas telefónicas con el cuidador principal y tres escalas estandarizadas de sueño, dependencia y calidad de vida. Resultados. Se incluye a 30 pacientes con una mediana de edad de 22,7 años: 22 son deleciones, 27 presentan antecedente de epilepsia y 13 están en tratamiento con, al menos, dos fármacos antiepilépticos. Las comorbilidades más frecuentes después de la epilepsia fueron los síntomas psiquiátricos, la escoliosis, el sobrepeso, el estreñimiento y problemas oftalmológicos. El 40% precisó ingresos hospitalarios en la edad adulta, cinco están institucionalizados y 24 reciben terapias no médicas. El médico a cargo es el neurólogo en la mayoría, seguido del neuropediatra. Conclusiones. Es necesario realizar estudios de historia natural más allá de la infancia. Ésta es la primera revisión española de adultos con SA que recoge un amplio espectro de condiciones sociales y médicas de estos pacientes.


Assuntos
Síndrome de Angelman , Epilepsia , Transtornos Mentais , Adulto , Criança , Humanos , Adulto Jovem , Síndrome de Angelman/diagnóstico , Qualidade de Vida , Epilepsia/epidemiologia , Comorbidade
2.
Rev Neurol ; 72(2): 51-60, 2021 01 16.
Artigo em Espanhol | MEDLINE | ID: mdl-33438195

RESUMO

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.


Assuntos
Síndrome de Angelman/diagnóstico , Eletroencefalografia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
3.
An Pediatr (Barc) ; 82(1): e98-e101, 2015 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-24598790

RESUMO

Cervical artery fistulas are rare arteriovenous malformations. The etiology of the vertebral arteriovenous fistulas (AVF) can be traumatic or spontaneous. They tend to be asymptomatic or palpation or continuous vibration in the cervical region. An arteriography is necessary for a definitive diagnosis. The treatment is complete embolization of the fistula. We present the case of a two year-old male, where the mother described it «like a washing machine in his head¼. On palpation during the physical examination, there was a continuous vibration, and a continuous murmur in left cervical region. A vascular malformation in vertebral region was clinically suspected, and confirmed with angio-MRI and arteriography. AVF are rare in childhood. They should be suspected in the presence of noises, palpation or continuous vibration in the cervical region. Early diagnosis can prevent severe complications in asymptomatic children.


Assuntos
Fístula Arteriovenosa/diagnóstico , Auscultação , Artéria Vertebral , Pré-Escolar , Humanos , Masculino , Pescoço
9.
An Esp Pediatr ; 55(1): 20-4, 2001 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-11412464

RESUMO

OBJECTIVE: To compare the clinical, radiological, bacteriological features and outcome of neonatal patients with acute osteomyelitis aged (28 days with those of children aged <= 28 days of age. PATIENTS AND METHODS: A retrospective analysis was performed. The clinical histories of patients aged less than 15 years diagnosed with acute osteomyelitis in a tertiary care hospital were reviewed. Acute osteomyelitis was defined as the association between at least two of the following variables: a) positive blood or biopsy culture; b) purulent bone aspiration; c) clinical features compatible with a diagnosis of acute osteomyelitis; d) radiological features suggestive of acute osteomyelitis, and e) favorable outcome after antibiotic treatment. The patients were divided into two groups: group 1: neonatal patients (aged (28 days) and group 2: children aged <= 28 days. Statistical analysis was performed by the Chi-square test and Student's t-test for categorized and numeric variables, respectively. RESULTS: Between 1977 and 1999, 45 children aged less than 15 years old were diagnosed with acute osteomyelitis. Of these, 17 patients were neonates (group 1) and 28 patients were aged more than 28 days old (group 2). The male:female ratio was 1.1:1 in group 1 and 3:1 in group 2. The mean age was 17.7 +/- 7.5 days in group 1 and 7.2 +/- 4.3 years in group 2. Metaphysis and tibia were more commonly affected in group 2 (p < 0.05). Epiphysis, arthritis and humerus were more frequently affected in group 1 (p < 0.05). Osteolysis and periosteal reaction predominated in group 1 (p < 0.05). 99mTc Bone scintigraphy and magnetic resonance imaging showed pathological findings in all patients. Blood culture revealed Staphylococcus aureus in 46 % of the patients. Blood and biopsy material cultures were positive in 46 % and 75 %, respectively. Of the 45 patients, outcome was favorable in 37 (82.2 %). CONCLUSION: Acute osteomyelitis showed different characteristics in the neonatal and postnatal periods. Bone scintigraphy and magnetic resonance showed high sensitivity. Bacteriology was positive in 50 % of patients.


Assuntos
Osteomielite/diagnóstico , Doença Aguda , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Osteomielite/tratamento farmacológico , Osteomielite/microbiologia , Estudos Retrospectivos
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