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1.
Pediatr Infect Dis J ; 26(10): 959-60, 2007 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17901806

RESUMEN

Human bocavirus (HBoV) has recently been described as a common agent of acute upper and lower respiratory tract infections in children. We screened by polymerase chain reaction for HBoV nucleic acid nasopharyngeal aspirates from hospitalized children with negative culture and immunofluorescence assay for respiratory syncytial virus, influenza viruses, adenovirus, and parainfluenza viruses. HBoV was detected in 32 children (5.5%) and was the second virus identified in nasopharyngeal aspirates after respiratory syncytial virus. Most of the children had severe disease.


Asunto(s)
Bocavirus/aislamiento & purificación , Infecciones por Parvoviridae/epidemiología , Infecciones del Sistema Respiratorio/epidemiología , Infecciones del Sistema Respiratorio/virología , Niño , Preescolar , Femenino , Hospitalización , Humanos , Lactante , Masculino , Nasofaringe/virología , Reacción en Cadena de la Polimerasa , Prevalencia , Estaciones del Año
2.
Ann Phys Rehabil Med ; 59(5-6): 314-319, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27315695

RESUMEN

BACKGROUND: Pain is one of the symptoms reported most by children with motor disabilities particularly during daily living activities in institutions and during rehabilitation. Despite the care and consideration of professionals, a wide range of motor and cognitive disabilities, limited communication skills, the presence of chronic pain and frequent care interventions place such children at high risk of experiencing induced pain. OBJECTIVES: We aimed to identify care-related pain and discomfort in children with motor disabilities in rehabilitation centres and the characteristics of children at risk of induced pain. A further aim was to evaluate the validity of a method for the continuous assessment of care-related pain. METHODS: Patients were recruited from 2 paediatric rehabilitation centres. The level of pain or discomfort experienced during each daily care activity was evaluated for 5 days and 1 night by using the FLACC-r scale and a visual analog scale (VAS) rated by the caregiver (VAS caregiver) and the patient (VAS patient). RESULTS: We included 32 children (mean age: 8.5±5 years, range: 1-15 years) with 1302 care activities evaluated. Overall, 3.6% of the activities were rated as painful and 11% uncomfortable. The most frequent painful activities were mouth care, transfers standing and dressing. The most frequent uncomfortable activities were passive limb mobilisation, dressing and transfers. Children with neurological disorders were at increased risk of induced pain. CONCLUSIONS: Children with motor disabilities experienced pain during daily care activities. The methodology we propose is valid and can be used in any type of institution for children with motor disability to evaluate and reduce the frequency of care-related pain.


Asunto(s)
Niños con Discapacidad/psicología , Trastornos de la Destreza Motora/rehabilitación , Dolor/etiología , Modalidades de Fisioterapia/efectos adversos , Actividades Cotidianas , Adolescente , Cuidadores/psicología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Enfermedades del Sistema Nervioso/rehabilitación , Dimensión del Dolor , Centros de Rehabilitación , Reproducibilidad de los Resultados , Factores de Riesgo , Encuestas y Cuestionarios
3.
J Exp Med ; 208(8): 1635-48, 2011 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-21727188

RESUMEN

Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition to mycobacterial disease caused by impaired STAT1-dependent cellular responses to IFN-γ. Other loss-of-function STAT1 alleles cause AR predisposition to intracellular bacterial and viral diseases, caused by impaired STAT1-dependent responses to IFN-α/ß, IFN-γ, IFN-λ, and IL-27. In contrast, the 12 AD CMCD-inducing STAT1 mutant alleles described here are gain-of-function and increase STAT1-dependent cellular responses to these cytokines, and to cytokines that predominantly activate STAT3, such as IL-6 and IL-21. All of these mutations affect the coiled-coil domain and impair the nuclear dephosphorylation of activated STAT1, accounting for their gain-of-function and dominance. Stronger cellular responses to the STAT1-dependent IL-17 inhibitors IFN-α/ß, IFN-γ, and IL-27, and stronger STAT1 activation in response to the STAT3-dependent IL-17 inducers IL-6 and IL-21, hinder the development of T cells producing IL-17A, IL-17F, and IL-22. Gain-of-function STAT1 alleles therefore cause AD CMCD by impairing IL-17 immunity.


Asunto(s)
Candidiasis Mucocutánea Crónica/genética , Candidiasis Mucocutánea Crónica/inmunología , Interleucina-17/inmunología , Modelos Moleculares , Factor de Transcripción STAT1/genética , Linfocitos T/inmunología , Secuencia de Bases , Ensayo de Cambio de Movilidad Electroforética , Ensayo de Inmunoadsorción Enzimática , Femenino , Citometría de Flujo , Técnica del Anticuerpo Fluorescente , Mutación de Línea Germinal/genética , Humanos , Immunoblotting , Interferón gamma/sangre , Interferón gamma/metabolismo , Interferones , Interleucinas/metabolismo , Masculino , Datos de Secuencia Molecular , Linaje , Fosforilación , Receptor de Interferón alfa y beta/inmunología , Factor de Transcripción STAT1/química , Factor de Transcripción STAT1/metabolismo , Alineación de Secuencia , Análisis de Secuencia de ADN
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