ABSTRACT
El síndrome de Phelan-McDermid (PMS) es una enfermedad rara del neurodesarrollo, provocada por una mutación autosómica dominante debido a la deleción terminal de 22q13, dando lugar a un defecto en la proteína SHANK3. Presentamos el caso clínico de una paciente de 12 años con este síndrome, sometida a 3 intervenciones que precisaron de anestesia general. En ninguna de ellas presentó complicaciones intra o postoperatorias.(AU)
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disease, caused by an autosomal dominant mutation due to the terminal deletion of 22q13, leading to a defect in the SHANK3 protein. We present the clinical case of a 12-year-old patient with this syndrome, who underwent three interventions that required general anesthesia. In none of them did she present intraoperative or postoperative complications.(AU)
Subject(s)
Humans , Female , Child , Anesthesia, General , Neurodevelopmental Disorders , Autistic Disorder , Hypnotics and Sedatives , Inpatients , Physical Examination , Rare Diseases , Anesthesiology , Cardiopulmonary Resuscitation , SpainABSTRACT
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disease, caused by an autosomal dominant mutation due to the terminal deletion of 22q13, leading to a defect in the SHANK3 protein. We present the clinical case of a 12-year-old patient with this syndrome, who underwent three interventions that required general anesthesia. In none of them did she present intraoperative or postoperative complications.
Subject(s)
Chromosome Disorders , Hypnotics and Sedatives , Female , Humans , Child , Chromosome Disorders/complications , Chromosome Disorders/genetics , Chromosome Deletion , Syndrome , Anesthesia, GeneralABSTRACT
Con el objeto de proporcionar a los profesionales de la enfermería de la Comunidad Valenciana un código de conducta profesional que les ayudara a afrontar las nuevas situaciones que se plantean en su práctica clínica diaria, derivadas de los cambios sociosanitarios producidos, el Consejo de Enfermería de la Comunidad Valenciana (CECOVA) aprobó en mayo de 2010 el Código Ético y Deontológico de la Enfermería de la Comunidad Valenciana. Este trabajo trata tanto de las razones que llevaron a impulsarlo, como del modo en que se elaboró y de los aspectos más destacables de su contenido (AU)
TIn order to provide to the nursing professionals in the Valencian Region a code of professional conduct to help them deal with new situations that arise in their daily clinical practice, derived from social changes produced, the Board of Nursing of Valencian Region/Consejo de Enfermería de la Comunidad Valenciana (CECOVA) approved in May 2010, the Code of Ethics and Conduct of Nursing of Valencia. This work is as much about the reasons that led to propel it, and the way they was developed and the most important aspects of your content (AU)
