RESUMEN
A novel TECTA mutation (c.5331G>A) was identified affecting alpha-tectorin just N-terminally of the zona pellucida domain in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. The present mutation is clearly associated with a flat-threshold type of hearing impairment. Intriguingly, our results demonstrated that the present TECTA mutation had a significant protective effect against presbyacusis. Substantial protection against presbyacusis is a novel finding in a family with autosomal dominant hearing impairment.
Asunto(s)
Proteínas de la Matriz Extracelular/genética , Pérdida Auditiva/genética , Glicoproteínas de Membrana/genética , Presbiacusia/genética , Adolescente , Adulto , Edad de Inicio , Audiometría , Niño , Preescolar , Trastornos de los Cromosomas/genética , Análisis Mutacional de ADN , Sordera/genética , Femenino , Proteínas Ligadas a GPI , Humanos , Lactante , Masculino , Mutación , Linaje , Adulto JovenRESUMEN
Two patients, a woman aged 54 years and a man aged 76 years, developed regional metastases of head and neck cutaneous squamous cell carcinoma (HNCSCC). In general, cutaneous SCC has a low metastatic potential. However these patients illustrate that this tumour may behave aggressively, metastasising to the regional lymph nodes in the neck or parotid gland. Certain clinical and histological features of the primary tumour are associated with a higher risk for nodal metastases. In patients at risk, a more rigorous investigation for nodal metastasis is warranted at diagnosis of SCC as well as during follow-up. The extent of treatment of lymph nodes in the neck region should be directed by the location of the primary tumour, which is an indicator of the most probable lymph drainage pattern. In the case of metastatic parotid involvement, elective treatment of the neck should be considered, even when there are no clinical signs of metastasis. Treatment consists of surgery and/or ipsilateral radiotherapy.