RESUMO
This article describes the elaboration process of the new Spanish Code of Medical Deontology ap- proved by the General Assembly of the General Council of Medical Colleges of Spain in December 2022. The reasons for updating the deontological rules, the works carried out, the principles followed in the development of the Code and the most relevant new rules are described.
Assuntos
Ética Médica , EspanhaRESUMO
El artículo describe el proceso de elaboración del nuevo Código español de Deontología Médica apro bado por la Asamblea General del Consejo General de Colegios de Médicos de España en diciembre de 2022. Se analizan los motivos para la actualización de las normas deontológicas, los trabajos llevados a cabo, los principios seguidos en el desarrollo del Código, y las novedades más relevantes introducidas (AU)
This article describes the elaboration process of the new Spanish Code of Medical Deontology ap proved by the General Assembly of the General Council of Medical Colleges of Spain in December 2022. The reasons for updating the deontological rules, the works carried out, the principles followed in the development of the Code and the most relevant new rules are described (AU)
Assuntos
Humanos , Direitos do Paciente , Códigos de Ética , Ética Médica , Teoria Ética , EspanhaRESUMO
UNLABELLED: Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and agenesis of the corpus callosum. These conditions are currently considered different phenotypes of a single entity known as L1 syndrome. We present three families with L1 syndrome. Sequencing of the L1CAM gene allowed the identification of the following mutations involved: a known splicing mutation (c.3531-12G>A) and two novel ones: a missense mutation (c.1754A>C; p.Asp585Ala) and a nonsense mutation (c.3478C>T; p.Gln1160Stop). The number of affected males and carrier females identified in a relatively small population suggests that L1 syndrome may be under-diagnosed. CONCLUSION: L1 syndrome should be considered in the differential diagnosis of intellectual disability or mental retardation in children, especially when other signs such as hydrocephalus or adducted thumbs are present.
Assuntos
Doenças Genéticas Ligadas ao Cromossomo X/genética , Deficiência Intelectual/genética , Mutação , Molécula L1 de Adesão de Célula Nervosa/genética , Paraplegia Espástica Hereditária/genética , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Linhagem , Reação em Cadeia da PolimeraseRESUMO
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