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Telemedicine is the provision of services by health professionals through the use of information and communication technologies. Its implementation is usually carried out through systems of va riable usability. In 2016, Parmanto et al, developed and validated a questionnaire in English that measures its usability and allows to evaluate all factors that influence it. In 2019, we translated, adapted cross-culturally, and published this questionnaire in Spanish. With the aim of transforming it into a reliable and accessible tool, the utility of which is indisputable in the current context, we carried out a research work that allowed its validation and simplification.

Telemedicine is the provision of services by health professionals, through the use of information and communication technologies. Its implementation helps to shorten distances, facilitate access to the health system, improve the effectiveness of care and reduce costs. In 2016, Bambang Parmanto et al, developed and validated a questionnaire in English that measures its usability and allows to evaluate all the factors that influence it. Since similar tools do not exist in the Spanish language to date, a research work was carried out for transcultural translation and adaptation that included seven steps. The questionnaire obtained after this process provides a valuable tool to objectify information that is vital to contribute to the cycle of continuous improvement of the care process of these characteristics, in which patients, health professionals and funders are involved.

The ECHO® (Extension for Community Healthcare Outcomes) project is a model of distance medical education. Its mission is to expand knowledge and evaluate the results of this action, both in the training of human resources in healthcare and in the accomplishment of the best medical practices in the community target. It is developed through case presentation videoconferencing, between experts in chronic and complex diseases and physicians, with the aim of reducing the healthcare asymmetries between large urban centers and peripherals areas. We have implemented this telementoring for dermatologists and residents who treat patients with psoriasis. After 10 sessions, a survey was conducted to evaluate the educational attainment of the participants. A significant improvement was found in their abilities to determine the severity of psoriasis, screening for arthritis, assessment of the patient before beginning systemic treatment and appropriate follow-up under different systemic therapies. ECHO replication model helped improve the skills of the participants in the management of this disease, and reduced professional isolation.

El síndrome del carcinoma basocelular nevoide (SCBCN) o de Gorlin-Goltz es un raro desorden autosómico dominante con un amplio espectro de manifestaciones clínicas. El signo cardinal es la presencia de múltiples carcinomas basocelulares (CBCs) y su ausencia demora el diagnóstico. Presentamos un adolescente de 14 años con diagnóstico de SCBCN por la presencia de queratoquistes odontogénicos, hiper­telorismo, macrocefalia y agenesia del cuerpo calloso pero sin lesiones cutáneas. La madre, de 43 años, tiene diagnóstico de SCBCN y no presenta CBCs. Para completar el estudio se realizó secuenciación bidireccional y Multiplex Ligation dependent Probe Amplification (MLPA) en sangre periférica para buscar mutaciones en PTCH1, principal gen responsable del síndrome. Se encontró una mutación germinal novel en el paciente y la madre: una duplicación de 25 pb en el exón 10 (c.1375dupl25bp). El análisis bioinformático predijo un corrimiento del marco de lectura y un codón stop prematuro, que produciría una proteína trunca más corta que lo normal. Nuestros resultados sugieren que el estudio clínico y genealógico completo con análisis genético es fundamental para la detección temprana de casos como el presente.