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1.
Am J Med Genet A ; 176(4): 877-885, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29423966

RESUMEN

47,XXY (KS) occurs in 1:650 male births, though less than 25% are ever identified. We assessed stability of neurocognitive features across diverse populations and quantified factors mediating outcome. Forty-four boys from the Netherlands (NL) and 54 boys from the United States (US) participated. The Wechsler Intelligence Scales assessed intellectual functioning; the ANT program evaluated cognitive function; and the CBCL assessed behavioral functioning. ANOVA was used for group comparisons. Hierarchical regressions assessed variance explained by each independent variable: parental education, timing of diagnosis, testosterone, age, and nationality. Parental education, timing of diagnosis, and hormonal treatment all played an important role in neurocognitive performance. The observed higher IQ and better attention regulation in the US group as compared to the NL group was observed with decreased levels of behavioral problems in the US group. Cognitive measures that were different between the NL and US groups, i.e., attention regulation and IQ scores, were also significantly influenced by external factors including timing of diagnosis, testosterone treatment, and parental education. On the ANT, a cognitive phenotype of 47,XXY was observed, with similar scores on 9 out of the 10 ANT subtests for the NL and US groups. This study lays additional features to the foundation for an algorithm linking external variables to outcome on various neurodevelopmental measures.


Asunto(s)
Conducta , Cognición , Estudios de Asociación Genética , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/psicología , Fenotipo , Cariotipo Anormal , Adolescente , Niño , Emociones , Femenino , Humanos , Inteligencia , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/tratamiento farmacológico , Masculino , Países Bajos , Pruebas Neuropsicológicas , Testosterona/farmacología , Estados Unidos
2.
Vaccine ; 33(36): 4540-7, 2015 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-26192359

RESUMEN

Disposable-syringe jet injectors (DSJIs) with single-use, auto disable, needle-free syringes offer the opportunity to avoid hazards associated with injection using a needle and syringe. Clinical studies have evaluated DSJIs for vaccine delivery, but most studies have focused on inactivated, subunit, or DNA vaccines. Questions have been raised about possible damage to live attenuated viral vaccines by forces generated during the jet injection process. This study examines the effect of jet injection on the integrity of measles, mumps, and rubella vaccine (MMR), measured by viral RNA content and infectivity. Three models of DSJIs were evaluated, each generating a different ejection force. Following jet injection, the RNA content for each of the vaccine components was measured using RT-qPCR immediately after injection and following passage in Vero cells. Jet injection was performed with and without pig skin as a simulation of human skin. There was little to no reduction of RNA content immediately following jet injection with any of the three DSJIs. Samples passaged in Vero cells showed no loss in infectivity of the measles vaccine following jet injection. Mumps vaccine consistently showed increased replication following jet injection. Rubella vaccine showed no loss after jet injection alone but some infectivity loss following injection through pig skin with two of the devices. Overall, these data demonstrated that forces exerted on a live attenuated MMR vaccine did not compromise vaccine infectivity. The bench model and protocol used in this study can be applied to evaluate the impact of jet injection on other live virus vaccines.


Asunto(s)
Equipos Desechables , Inyecciones a Chorro/métodos , Vacuna contra el Sarampión-Parotiditis-Rubéola/química , Vacuna contra el Sarampión-Parotiditis-Rubéola/inmunología , Animales , Chlorocebus aethiops , Virus del Sarampión/crecimiento & desarrollo , Viabilidad Microbiana , Virus de la Parotiditis/crecimiento & desarrollo , ARN Viral/análisis , Reacción en Cadena en Tiempo Real de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Virus de la Rubéola/crecimiento & desarrollo , Células Vero , Cultivo de Virus
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