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1.
Rev. neurol. (Ed. impr.) ; 59(9): 392-398, 1 nov., 2014. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-128864

RESUMO

Introducción. En los últimos años parecemos asistir a una creciente demanda asistencial en neuropediatría. Los estudios epidemiológicos son necesarios para dar a conocer dicha demanda y así favorecer una adecuada gestión de los recursos sanitarios. Objetivo. Conocer el peso proporcional de las consultas de neuropediatría en el global de las consultas pediátricas en nuestro hospital, la tasa anual de consulta en neurología infantil por cada 1.000 habitantes menores de 14 años y las características de dicha consulta (datos demográficos, motivos de consulta y otras). Pacientes y métodos. Estudio retrospectivo, descriptivo, sobre la actividad asistencial de consultas pediátricas y neuropediátricas en un hospital público de nivel II en el sur de Madrid, durante el período 2008-2012. Resultados. Desde la apertura de nuestro centro, las consultas de pediatría han experimentado un marcado crecimiento, siendo las de neuropediatría las más demandadas, ya que en el año 2012 atendieron a un total de 2.129 pacientes (718 primeras consultas), con un índice de sucesiva/primera consulta de 1,96. En neuropediatría, se atendieron el 23,49% de todas las consultas pediátricas realizadas en el hospital. La tasa media de primeras consultas en el período 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 paroxísticos (14,8%) y retraso del desarrollo psicomotor (9%). Conclusiones. El incremento en la demanda asistencial de la neuropediatría ha resultado claramente superior al de las otras especialidades pediátricas que llevan en funcionamiento el mismo período. En los cinco años de estudio, la tasa de primeras visitas se ha triplicado. Esta sobrecarga asistencial podría condicionar la atención a los pacientes con patología neurológica grave. Serían necesarios estudios similares en diferentes regiones para conocer la realidad de la neuropediatría española (AU)


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 (AU)


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Doenças do Sistema Nervoso Central/epidemiologia , Administração de Serviços de Saúde , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Deficiências da Aprendizagem/epidemiologia
2.
Cases J ; 2: 7131, 2009 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-19829916

RESUMO

Focal intracranial infections caused by Salmonella are rare, especially those produced by S. enteritidis. We describe the case of a 26-month-old girl who underwent surgery for a frontoparietal ependymoma and presented with epidural empyema and a brain abscess due to S. enteritidis following an episode of gastroenteritis. The child was successfully treated by surgical drainage along with 9 weeks of antibiotic therapy including ciprofloxacin.

3.
Eur J Endocrinol ; 160(4): 711-7, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19332529

RESUMO

CONTEXT: The phenotypic variability of patients with syndromes presenting with dysmorphism makes clinical diagnosis difficult, leading to an exhaustive genetic study to determine the underlying mechanism so that a proper diagnosis could be established. OBJECTIVE: To genetically characterize siblings, the older sister diagnosed with Albright hereditary osteodystrophy and the younger one with CHARGE syndrome. DESIGN: Clinical case report. METHODS: Clinical, biochemical, and radiological studies were performed on the family. In addition, molecular genetic studies including sequencing of GNAS, typing of microsatellites on 2q and 21q, and multiplex ligation-dependent probe amplification of subtelomeric regions were performed, as well as confirmatory fluorescent in situ hybridization analysis. RESULTS: The genetic analysis revealed that both sisters presented a 2q37 deletion due to the maternal unbalanced segregation of a 2;21 translocation. CONCLUSIONS: This is the first report of a 2q37 deletion where differential diagnosis of CHARGE syndrome is needed due to the appearance of choanal atresia.


Assuntos
Anormalidades Múltiplas/genética , Atresia das Cóanas/genética , Deleção Cromossômica , Cromossomos Humanos Par 2/genética , Translocação Genética/genética , Anormalidades Múltiplas/diagnóstico , Adolescente , Peso Corporal/fisiologia , Atresia das Cóanas/diagnóstico , Cromograninas , Diagnóstico Diferencial , Feminino , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Marcadores Genéticos , Humanos , Hibridização in Situ Fluorescente , Masculino , Obesidade/genética , Fenótipo , Síndrome , Translocação Genética/fisiologia
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