Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing.

Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by the lack of dystrophin, which maintains muscle membrane integrity. We used an adenine base editor (ABE) to modify splice donor sites of the dystrophin gene, causing skipping of a common DMD deletion mutation of exon 51 (∆Ex51) in cardiomyocytes derived from human induced pluripotent stem cells, restoring dystrophin expression. Prime editing was also capable of reframing the dystrophin open reading frame in these cardiomyocytes. Intramuscular injection of ∆Ex51 mice with adeno-associated virus serotype-9 encoding ABE components as a split-intein trans-splicing system allowed gene editing and disease correction in vivo. Our findings demonstrate the effectiveness of nucleotide editing for the correction of diverse DMD mutations with minimal modification of the genome, although improved delivery methods will be required before these strategies can be used to sufficiently edit the genome in patients with DMD.

Los errores de tratamiento en una unidad neonatal, uno de los principales acontecimientos adversos / Medication errors in a neonatal unit: One of the main adverse events

INTRODUCCIÓN: Las unidades neonatales son uno de los ámbitos hospitalarios más expuestos a la comisión de errores de tratamiento. El error de medicación (EM) se define como el incidente, evitable, secundario a la utilización inapropiada de medicamentos, que causa o puede causar daño al paciente. El objetivo de este trabajo es dar a conocer la incidencia de EM (incluida la alimentación) notificados en nuestra unidad neonatal así como sus características y posibles factores causales. Así mismo se expone una relación de las estrategias llevadas a cabo para su prevención. MATERIAL Y MÉTODOS: Se analizan los EM declarados en un servicio de neonatología. RESULTADOS: Durante un período de 7 años, en el servicio de neonatología se han notificado 511 EM. La incidencia en la unidad de críticos fue de 32,2 por 1.000 días de hospitalización o 0,2 por paciente, de los cuales 0,22 por 1.000 días tuvieron repercusión grave; el 39,5% fueron errores de prescripción, el 68,1% de administración y el 0,6% reacciones adversas a medicamentos. El 65,4% fue producido por fármacos. Se interceptó el 17%. El 89,4% no tuvo repercusión sobre el paciente; el 0,6% causó secuelas permanentes o muerte. Los profesionales de enfermería declararon el 65,4% de los EM. El factor causal más frecuentemente implicado fue la distracción (59%). Se realizaron medidas correctoras simples (alertas), intermedias (protocolos, sesiones clínicas, cursos) y complejas (análisis causales, monografía). CONCLUSIONES: Es imprescindible conocer la propia realidad para poder establecer medidas preventivas y, junto al trabajo en equipo y las buenas prácticas, promover un clima de seguridad

INTRODUCTION: Neonatal units are one of the hospital areas most exposed to the committing of treatment errors. A medication error (ME) is defined as the avoidable incident secondary to drug misuse that causes or may cause harm to the patient. The aim of this paper is to present the incidence of ME (including feeding) reported in our neonatal unit and its characteristics and possible causal factors. A list of the strategies implemented for prevention is presented. MATERIAL AND METHODS: An analysis was performed on the ME declared in a neonatal unit. RESULTS: A total of 511 MEs have been reported over a period of seven years in the neonatal unit. The incidence in the critical care unit was 32.2 per 1000 hospital days or 20 per 100 patients, of which 0.22 per 1000 days had serious repercussions. The ME reported were, 39.5% prescribing errors, 68.1% administration errors, 0.6% were adverse drug reactions. Around two-thirds (65.4%) were produced by drugs, with 17% being intercepted. The large majority (89.4%) had no impact on the patient, but 0.6% caused permanent damage or death. Nurses reported 65.4% of MEs. The most commonly implicated causal factor was distraction (59%). Simple corrective action (alerts), and intermediate (protocols, clinical sessions and courses) and complex actions (causal analysis, monograph) were performed. CONCLUSIONS: It is essential to determine the current state of ME, in order to establish preventive measures and, together with teamwork and good practices, promote a climate of safety

[Medication errors in a neonatal unit: One of the main adverse events]. / Los errores de tratamiento en una unidad neonatal, uno de los principales acontecimientos adversos.

INTRODUCTION: Neonatal units are one of the hospital areas most exposed to the committing of treatment errors. A medication error (ME) is defined as the avoidable incident secondary to drug misuse that causes or may cause harm to the patient. The aim of this paper is to present the incidence of ME (including feeding) reported in our neonatal unit and its characteristics and possible causal factors. A list of the strategies implemented for prevention is presented. MATERIAL AND METHODS: An analysis was performed on the ME declared in a neonatal unit. RESULTS: A total of 511 MEs have been reported over a period of seven years in the neonatal unit. The incidence in the critical care unit was 32.2 per 1000 hospital days or 20 per 100 patients, of which 0.22 per 1000 days had serious repercussions. The ME reported were, 39.5% prescribing errors, 68.1% administration errors, 0.6% were adverse drug reactions. Around two-thirds (65.4%) were produced by drugs, with 17% being intercepted. The large majority (89.4%) had no impact on the patient, but 0.6% caused permanent damage or death. Nurses reported 65.4% of MEs. The most commonly implicated causal factor was distraction (59%). Simple corrective action (alerts), and intermediate (protocols, clinical sessions and courses) and complex actions (causal analysis, monograph) were performed. CONCLUSIONS: It is essential to determine the current state of ME, in order to establish preventive measures and, together with teamwork and good practices, promote a climate of safety.