Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

CCDC28B (coiled-coil domain-containing protein 28B) was identified as a modifier in the ciliopathy Bardet-Biedl syndrome (BBS). Our previous work in cells and zebrafish showed that CCDC28B plays a role regulating cilia length in a mechanism that is not completely understood. Here we report the generation of a Ccdc28b mutant mouse using CRISPR/Cas9 (Ccdc28b mut). Depletion of CCDC28B resulted in a mild phenotype. Ccdc28b mut animals i) do not present clear structural cilia affectation, although we did observe mild defects in cilia density and cilia length in some tissues, ii) reproduce normally, and iii) do not develop retinal degeneration or obesity, two hallmark features of reported BBS murine models. In contrast, Ccdc28b mut mice did show clear social interaction defects as well as stereotypical behaviors. This finding is indeed relevant regarding CCDC28B as a modifier of BBS since behavioral phenotypes have been documented in BBS. Overall, this work reports a novel mouse model that will be key to continue evaluating genetic interactions in BBS, deciphering the contribution of CCDC28B to modulate the presentation of BBS phenotypes. In addition, our data underscores a novel link between CCDC28B and behavioral defects, providing a novel opportunity to further our understanding of the genetic, cellular, and molecular basis of these complex phenotypesCSIC: I+D 2016-55

Burnout en trabajadores de la salud. Una comparación entre médicos, enfermeras, cargos administrativos y técnicos

Introduction: Healthcare workers (HCW) report higher levels of anxiety, depression, burnout, compared to the general population. The severe global health crisis caused by the coronavirus SARS-CoV-2 brought even more burden to HCW. Objective: To assessed burnout as a whole and in its different domains among HCW in a medical centerMethods: We performed a cross-sectional study examining the association between demographic characteristics, healthcare position and feeling burned out. Data was collected through an anonymous online survey. We utilized the Maslach Survey for Medical Personnel in Spanish. Descriptive analyses summarized age, gender, job role, number of jobs, time in the organization and working in a COVID-19 exposed area. Ji2 tests were used to analyze association between variables and burnout. A multivariate logistic regression analysis was used to identify independent predictors of any of the burnout domains: emotional exhaustion (EE), depersonalization (DP) and/or personal accomplishment (PA). Results: 185/852 subjects answered the survey (21.7%); 79 subjects reported EE (42.7%), 61 (32.9%) DP and 31 (16.7%) PA; 98 (52.4%) had at least one component of high burnout for the dimensions analyzed. Logistics regression shows that female gender (OR= 2.21; 95% CI: 1.12-4.39), administrative positions (OR= 18.61; 95% CI: 4.28-80.93), physicians (OR= 13.27; 95% CI 3.55-49.86), and nurses (OR= 6.55; 95% CI: 1.58-27.14) were strongly associated with the presence of any burnout domain. Conclusions: The overall burnout prevalence was in range with international studies. Female workers, administrative positions, physicians and nurses were identified as independent predictors of burnout.Introducción: Los trabajadores de la salud (TS) informan niveles más altos de ansiedad, depresión y agotamiento, en comparación con la población general. La grave crisis sanitaria mundial provocada por el coronavirus SARS-CoV-2 supuso una carga aún mayor para los trabajadores sanitarios.Objetivo: Evaluar el burnout en su conjunto y en sus diferentes dominios entre los TS en un centro médicoMétodos: Realizamos un estudio transversal donde se examinó la asociación entre las características demográficas, el puesto de atención médica y la sensación de agotamiento. Los datos se recopilaron a través de una encuesta anónima en línea. Utilizamos la Encuesta en español Maslach para Personal Médico. Los análisis resumieron la edad, el género, el rol laboral, la cantidad de trabajos, el tiempo en la organización y el trabajo en un área expuesta a COVID-19. Se utilizaron pruebas de Ji2 para analizar la asociación entre las variables y el burnout. Se utilizó un análisis de regresión logística multivariante para identificar predictores independientes de cualquiera de los dominios del burnout: agotamiento emocional (AE), despersonalización (DP) y/o realización personal (RP).Resultados: Respondieron la encuesta 185/852 sujetos (21,7%); 79 sujetos reportaron AE (42,7%), 61 (32,9%) DP y 31 (16,7%) RP; 98 (52,4%) tenían al menos un componente de burnout alto para las dimensiones analizadas. La regresión logística mostró que el género femenino (OR= 2,21; IC 95%: 1,12-4,39), cargos administrativos (OR= 18,61; IC 95%: 4,28-80,93), médicos (OR= 13,27; IC 95% 3,55-49,86), y enfermeros (OR= 6,55; IC 95%: 1,58-27,14) se asociaron fuertemente con la presencia de algún dominio de burnout.Conclusion: La prevalencia del agotamiento estuvo en el rango de los estudios internacionales. Trabajadoras, cargos administrativos, médicos y enfermeras fueron identificados como predictores independientes de burnout

Burnout analysis in healthcare workers. A one center cross sectional comparison between physicians, nurses, administrative positions and technicians

Introduction: Healthcare workers (HCW) report higher levels of anxiety, depression, burnout, compared to the general population. The severe global health crisis caused by the coronavirus SARS-CoV-2 brought even more burden to HCW. Objective: To assessed burnout as a whole and in its different domains among HCW in a medical center Methods: We performed a cross-sectional study examining the association between demographic characteristics, healthcare position and feeling burned out. Data was collected through an anonymous online survey. We utilized the Maslach Survey for Medical Personnel in Spanish. Descriptive analyses summarized age, gender, job role, number of jobs, time in the organization and working in a COVID-19 exposed area. Ji2 tests were used to analyze association between variables and burnout. A multivariate logistic regression analysis was used to identify independent predictors of any of the burnout domains: emotional exhaustion (EE), depersonalization (DP) and/or personal accomplishment (PA). Results: 185/852 subjects answered the survey (21.7%); 79 subjects reported EE (42.7%), 61 (32.9%) DP and 31 (16.7%) PA; 98 (52.4%) had at least one component of high burnout for the dimensions analyzed. Logistics regression shows that female gender (OR= 2.21; 95% CI: 1.12-4.39), administrative positions (OR= 18.61; 95% CI: 4.28-80.93), physicians (OR= 13.27; 95% CI 3.55-49.86), and nurses (OR= 6.55; 95% CI: 1.58-27.14) were strongly associated with the presence of any burnout domain. Conclusions: The overall burnout prevalence was in range with international studies. Female workers, administrative positions, physicians and nurses were identified as independent predictors of burnout

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal manifestations. CEP290 expression was detected mostly in proliferating cerebellar granule neuron populations and showed centrosome and ciliary localization, linking JSRDs to other human ciliopathies