RESUMEN
BACKGROUND AND IMPORTANCE: There seems to be evidence of gender and ethnic bias in the early management of acute coronary syndrome. However, whether these differences are related to less severe severity assessment or to less intensive management despite the same severity assessment has not yet been established. OBJECTIVE: To show whether viewing an image with characters of different gender appearance or ethnic background changes the prioritization decision in the emergency triage area. METHODS: The responders were offered a standardized clinical case in an emergency triage area. The associated image was randomized among eight standardized images of people presenting with chest pain and differing in gender and ethnic appearance (White, Black, North African and southeast Asian appearance). OUTCOME MEASURES AND ANALYSIS: Each person was asked to respond to a single clinical case, in which the priority level [from 1 (requiring immediate treatment) to 5 (able to wait up to 2â h)] was assessed visually. Priority classes 1 and 2 for vital emergencies and classes 3-5 for nonvital emergencies were grouped together for analysis. RESULTS: Among the 1563 respondents [mean age, 36â ±â 10 years; 867 (55%) women], 777 (50%) were emergency physicians, 180 (11%) emergency medicine residents and 606 (39%) nurses. The priority levels for all responses were 1-5â :â 180 (11%), 686 (44%), 539 (34%), 131 (9%) and 27 (2%). There was a higher reported priority in male compared to female [62% vs. 49%, difference 13% (95% confidence interval; CI 8-18%)]. Compared to White people, there was a lower reported priority for Black simulated patients [47% vs. 58%, difference -11% (95% CI -18% to -4%)] but not people of southeast Asian [55% vs. 58%, difference -3% (95% CI -10-5%)] and North African [61% vs. 58%, difference 3% (95% CI -4-10%)] appearance. CONCLUSION: In this study, the visualization of simulated patients with different characteristics modified the prioritization decision. Compared to White patients, Black patients were less likely to receive emergency treatment. The same was true for women compared with men.
Asunto(s)
Dolor en el Pecho , Triaje , Humanos , Masculino , Femenino , Adulto , Dolor en el Pecho/diagnóstico , Simulación de Paciente , Medicina de Emergencia , Persona de Mediana Edad , Servicio de Urgencia en Hospital/estadística & datos numéricos , Factores SexualesRESUMEN
Several pathogenic variants have been reported in the IMPG1 gene associated with the inherited retinal disorders vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). IMPG1 and its paralog IMPG2 encode for two proteoglycans, SPACR and SPACRCAN, respectively, which are the main components of the interphotoreceptor matrix (IPM), the extracellular matrix surrounding the photoreceptor cells. To determine the role of SPACR in the pathological mechanisms leading to RP and VMD, we generated a knockout mouse model lacking Impg1, the mouse ortholog. Impg1-deficient mice show abnormal accumulation of autofluorescent deposits visible by fundus imaging and spectral-domain optical coherence tomography (SD-OCT) and attenuated electroretinogram responses from 9 months of age. Furthermore, SD-OCT of Impg1-/- mice shows a degeneration of the photoreceptor layer, and transmission electron microscopy shows a disruption of the IPM and the retinal pigment epithelial cells. The decrease in the concentration of the chromophore 11-cis-retinal supports this loss of photoreceptors. In conclusion, our results demonstrate the essential role of SPACR in maintaining photoreceptors. Impg1-/- mice provide a novel model for mechanistic investigations and the development of therapies for VMD and RP caused by IMPG1 pathogenic variants.
Asunto(s)
Proteínas de la Matriz Extracelular , Proteínas del Ojo , Proteoglicanos , Retinitis Pigmentosa , Distrofia Macular Viteliforme , Animales , Matriz Extracelular/genética , Matriz Extracelular/patología , Proteínas de la Matriz Extracelular/genética , Proteínas del Ojo/genética , Ratones , Células Fotorreceptoras/patología , Proteoglicanos/genética , Epitelio Pigmentado de la Retina/patología , Pigmentos Retinianos , Retinaldehído , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/patología , Distrofia Macular Viteliforme/genéticaRESUMEN
BACKGROUND: Inherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes include vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). Despite the identification of over 90 genes associated with RP, conventional genetic testing fails to detect a molecular diagnosis in about one third of patients with RP. METHODS: Exome sequencing was carried out for identifying the disease-causing gene in a family with autosomal dominant RP. Gene panel testing and exome sequencing were performed in 596 RP and VMD families to identified additional IMPG1 variants. In vivo analysis in the medaka fish system by knockdown assays was performed to screen IMPG1 possible pathogenic role. RESULTS: Exome sequencing of a family with RP revealed a splice variant in IMPG1. Subsequently, the same variant was identified in individuals from two families with either RP or VMD. A retrospective study of patients with RP or VMD revealed eight additional families with different missense or nonsense variants in IMPG1. In addition, the clinical diagnosis of the IMPG1 retinopathy-associated variant, originally described as benign concentric annular macular dystrophy, was also revised to RP with early macular involvement. Using morpholino-mediated ablation of Impg1 and its paralog Impg2 in medaka fish, we confirmed a phenotype consistent with that observed in the families, including a decreased length of rod and cone photoreceptor outer segments. CONCLUSION: This study discusses a previously unreported association between monoallelic or biallelic IMPG1 variants and RP. Notably, similar observations have been reported for IMPG2.