RESUMEN
In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of moderate intellectual disability with postaxial hexadactyly, dermatologic features, ventricular septal defect, bicuspid aortic valve, and aortic dystrophy in a 19-year-old male patient. In a subset of 15% of the cells, the patient carried a derivative chromosome 10 generated by a nonreciprocal (10;13) translocation inherited from his healthy mother who carried the translocation in a balanced and homogeneous state. FISH analyses showed interstitial telomeric sequences at the breakpoints. To our knowledge, this is the second report of a patient with trisomy 13 mosaicism displaying a severe aortic root dilatation. We also discuss the mechanisms which could explain the mosaic state, the most likely one being related to the instability of the interstitial telomere.
Asunto(s)
Aorta/anomalías , Síndrome de Marfan/etiología , Mosaicismo , Síndrome de la Trisomía 13/diagnóstico , Cromosomas Humanos Par 10/genética , Cromosomas Humanos Par 13/genética , Hibridación Genómica Comparativa , Humanos , Hibridación Fluorescente in Situ , Masculino , Translocación Genética , Síndrome de la Trisomía 13/genética , Adulto JovenRESUMEN
This survey evaluated hypnosis practice in French centres in June 2020. The survey was sent via email to different rhythmology centres in France and responses from cardiologists and nurses were obtained. We present here the preliminary results of this survey. Hypnosis was used on a regular basis in 7.5% of the centres and 13% of the participants received education on hypnosis. 75% of the participants were interested to have an education of hypnosis. The survey points the different possibilities of improvement of management of patients while having the different procedures.