RESUMEN
AIM: We compared Hepatitis C virus (HCV) genotyping by direct sequencing of the non-structural 5b region (NS5b) and a commercial PCR/hybridization method based on the conserved 5´-untranslated region (5'UTR). METHODS: One hundred twenty HCV containing plasma samples were analyzed by NS5b sequencing with focus on samples with undetermined results or 1b subtype identification in the used combination of Cobas® AmpliPrep/Cobas® TaqMan96® PCR and subsequent Versant® HCV Genotype 2.0 Assay (LiPA). RESULTS: There was 100% concordance between the two methods for genotyping but only 83% for subtyping. Seventeen samples were designated 1b by hybridization but subtype 1a by NS5b sequencing. This is a general 5'UTR problem as the discordant results were additionally confirmed by 5'UTR sequencing. Thus our routine combination not only misclassified 38.6% of subtype 1a isolates as 1b but in contrast to NS5b sequencing was unable to discriminate between subtypes 2a/c, or 4a/c/d and also failed on a newly described subtype (10a/3k). [corrected]. CONCLUSIONS: [corrected] The applied 5'UTR methods allow the rapid determination of HCV genotypes but failed to correctly identify the subtype in many samples. This has implications for epidemiological studies or forensic evaluation of chains of infection and NS5b sequencing therefore is our method of choice under those circumstances.
Asunto(s)
Regiones no Traducidas 5'/genética , Técnicas de Genotipaje/métodos , Hepacivirus/genética , Hibridación Genómica Comparativa/métodos , Genotipo , Humanos , Reacción en Cadena de la Polimerasa/métodos , Análisis de Secuencia de ADN/métodosRESUMEN
Huntington's disease is the most frequent neurodegenerative disease with a prevalence of fewer than 10 cases per 10,000 inhabitants; the juvenile form is responsible for less than 10% of all cases. Huntington's disease belongs to the group known as "triad syndromes," which evolve with cognitive, motor and neuropsychiatric manifestations. Around 30% of patients debut with behavioral symptoms, which are a major challenge for management by patients, families, and caregivers. Huntington's disease (HD) is reviewed and a case of juvenile onset is reported in this article. The characteristics of juvenile-onset Huntington's disease (HD) differ from those of adult-onset HD, as chorea does not occur, although bradykinesia, dystonia, and signs of cerebellar disorder, such as rigidity, are present, frequently in association with convulsive episodes and psychotic manifestations.
Asunto(s)
Enfermedad de Huntington , Adolescente , Femenino , Humanos , Enfermedad de Huntington/diagnóstico , Enfermedad de Huntington/terapiaRESUMEN
La Enfermedad de Hungtinton es la patología neurodegenerativa más frecuente, con una prevalencia menor de 10 casos por cada 100000 habitantes, representando la variante juvenil menos del 10%. Pertenece al grupo de los llamados síndromes triada, que cursan con manifestaciones psiquiátricas, motrices y cognitivas. Alrededor del 30% de los pacientes debutan con alteraciones conductuales, representado su manejo una de las mayores dificultades tanto para el paciente como para su familia o cuidadores. En este artículo realizamos una revisión de la enfermedad y exponemos un caso de inicio juvenil, cuyas características difirieren de la presentación habitual en la edad adulta, ya que no aparece corea pero sí bradicinesia, distonía y signos de alteración cerebelosa como la rigidez, con mayor asociación con crisis convulsivas y clínica psicótica (AU)
Huntingtons disease is the most frequent neurodegenerative disease with a prevalence of fewer than 10 cases per 10,000 inhabitants; the juvenile form is responsible for less than 10% of all cases. Huntingtons disease belongs to the group known as triad syndromes, which evolve with cognitive, motor and neuropsychiatric manifestations. Around 30% of patients debut with behavioral symptoms, which are a major challenge for management by patients, families, and caregivers. Huntingtons disease (HD) is reviewed and a case of juvenile onset is reported in this article. The characteristics of juvenile-onset Huntingtons disease (HD) differ from those of adult-onset HD, as chorea does not occur, although bradykinesia, dystonia, and signs of cerebellar disorder, such as rigidity, are present, frequently in association with convulsive episodes and psychotic manifestations (AU)
