RESUMEN

El manejo deficiente de información, en especial durante la transferencia o el traspaso de cuidados, contribuye en gran parte de los eventos adversos relacionados con la asistencia sanitaria. El Comité de Calidad Asistencial y Seguridad en el Paciente de la Asociación Española de Pediatría ha confeccionado este documento para ofrecer una aproximación a los procesos de transferencia en distintos ámbitos asistenciales pediátricos: urgencias-emergencias, hospitalización, cuidados intensivos, neonatología y atención primaria. Se describen recursos para lograr una comunicación segura y efectiva en todos estos ámbitos, empleando, entre otros métodos, herramientas estandarizadas de transferencia. Se proponen también recomendaciones para la prevención de errores de medicación durante los procesos de transferencia, la mejora de seguridad durante los traslados y derivaciones entre ámbitos, y también para un mejor traspaso de información asistencial en los niños y adolescentes con enfermedades crónicas y complejidad asistencial. (AU)

Inadequate information management, especially during patient handoff, contributes to a large part of health care-related adverse events. The Committee for Quality of Care and Patient Safety of the Asociación Española de Pediatría has developed this document to provide an overview of handover practices in different paediatric care settings (emergency, inpatient, intensive care, neonatal and primary care). It describes resources to achieve safe and effective communication in all these settings, such as standardized handoff tools. It also proposes recommendations for the prevention of medication errors during the handover process, to improve safety in interhospital and intrahospital patient transfer, and to optimize communication and continuity of care in chronically ill and medically complex children. (AU)

Asunto(s)

RESUMEN

Inadequate information management, especially during patient handoff, contributes to a large part of health care-related adverse events. The Committee for Quality of Care and Patient Safety of the Asociación Española de Pediatría has developed this document to provide an overview of handover practices in different paediatric care settings (emergency, inpatient, intensive care, neonatal and primary care). It describes resources to achieve safe and effective communication in all these settings, such as standardised handoff tools. It also proposes recommendations for the prevention of medication errors during the handover process, to improve safety in interhospital and intrahospital patient transfer, and to optimise communication and continuity of care in chronically ill and medically complex children.

Asunto(s)

RESUMEN

X-linked myopathy with excessive autophagy is a rare inherited disease characterized by aberrant accumulation of autophagic vacuoles in skeletal muscle. Affected males usually show a slow progression and the heart is characteristically spared. We present four male patients from the same family with an extremely aggressive form of this disease, requiring permanent mechanical ventilation from birth. Ambulation was never achieved. Three died, one in the first hour of life, one at 7 years and one at 17 years, the last death being a consequence of heart failure. Muscle biopsy showed pathognomonic features of the disease in the 4 affected males. Genetic study found a novel synonymous variant in VMA21, c.294C>T (Gly98=). Genotyping was consistent with co-segregation with the phenotype in an X-linked recessive manner. An alteration of the normal splice pattern was confirmed by transcriptome analysis, proving that the apparently synonymous variant was the cause of this extremely severe phenotype.