Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy.

Becker muscular dystrophy (BMD) is an X-linked disorder due to in-frame mutations in the DMD gene, leading to a less abundant and truncated dystrophin. BMD is less common and severe than Duchenne muscular dystrophy (DMD) as well as less investigated. To accelerate the search for innovative treatments, we developed a rat model of BMD by deleting the exons 45-47 of the Dmd gene. Here, we report a functional and histopathological evaluation of these rats during their first year of life, compared to DMD and control littermates. BMD rats exhibit moderate damage to locomotor and diaphragmatic muscles but suffer from a progressive cardiomyopathy. Single nuclei RNA-seq analysis of cardiac samples revealed shared transcriptomic abnormalities in BMD and DMD rats and highlighted an altered end-addressing of TMEM65 and Connexin-43 at the intercalated disc, along with electrocardiographic abnormalities. Our study documents the natural history of a translational preclinical model of BMD and reports a cellular mechanism for the cardiac dysfunction in BMD and DMD offering opportunities to further investigate the organization role of dystrophin in intercellular communication.

Early exposure to cannabis and bipolar disorder incidence: Findings from a 22-year birth cohort study in Brazil.

BACKGROUND AND OBJECTIVES: Bipolar disorder is a chronic condition affecting millions of people worldwide. Currently, there is some evidence to suggest that cannabis use during adolescence may be an environmental risk factor for its onset, however inconsistencies have been observed across the literature. Considering this, we aimed to assess whether early lifetime cannabis is associated with subsequent bipolar disorder in young adults between 18 and 22 years of age. METHODS: Using data from the 1993 Pelotas (Brazil) birth cohort (n = 5249), cannabis exposure was examined at age 18 by self-report, and bipolar disorder diagnosis was measured at age 22 using the Mini International Neuropsychiatric Interview (MINI). In order to control the analysis, we considered socioeconomic status index, sex, skin color, physical abuse by parents and lifetime cocaine use. RESULTS: A total of 3781 individuals were evaluated in 2015 aged 22 years, of whom 87 were diagnosed with the bipolar disorder onset after the age of 18. Lifetime cannabis use predicted bipolar disorder onset at 22 years old (OR 1.82, 95% CI [1.10, 2.93]), and the effect remained after adjusting for socioeconomic status, sex, skin color, and physical abuse by parents (OR 2.00, 95% CI [1.20, 3.25]). However, this association was attenuated to statistically non-significant after further adjustment for all available covariates, including lifetime cocaine use (OR 1.79, 95% CI [0.95, 3.19]). We also found similar results for early cocaine use, where the association with bipolar disorder onset did not maintain significance in the multivariate model (OR 1.35, 95% CI [0.62, 2.86]). Otherwise, when we considered cannabis or cocaine lifetime use as a unique feature, our findings showed that the adolescent exposure to cannabis or cocaine increased the odds by 1.95 times of developing bipolar disorder at 22 years age, even when controlling for all other study variables (OR 2.14, 95% CI [1.30, 3.47]). Finally, our models suggest that cocaine use may potentially exert a major influence on the effect of lifetime cannabis use on bipolar disorder onset, and that physical abuse by parents and sex may modify the effect of cannabis use for later bipolar disorder onset. CONCLUSION: Based on our findings, early cannabis exposure predicted bipolar disorder onset in young adults, but this association was confounded by cocaine use. Contrary to schizophrenia, cannabis as a sole exposure was not associated with bipolar disorder onset after adjusting for control variables.

Predictors of health-related quality of life among semi-precious stone mineworkers exposed to silica dust.

OBJECTIVE: The study aimed to comparatively evaluate HRQOL in miners of semi-precious stones with and without silicosis, and determine the associated factors, as well as the performance of two different questionnaires in measuring HRQOL. METHODS: In a cross-sectional study of 348 male miners (129 with silicosis) who underwent an interview and spirometry, HRQOL was assessed using the World Health Organization Quality of Life (WHOQOL-BREF) questionnaire and the Saint George's Respiratory Questionnaire (SGRQ). RESULTS: Miners with silicosis were older, had less schooling, worked more hours daily, and had longer exposure to silica. They also had worse scores of QoL in both questionnaires. Respiratory symptoms and %FEV1 were contributing factors for the models of total health and all the domains of the SGRQ, and 40% of the variability of the general health domain of WHOQOL-BREF was due to dyspnea, wheezing, %FEV1, and pack-years of cigarette smoking. Respiratory symptoms, lung function, pack-years of cigarette smoking, years of education, and average monthly income were contributing factors for the models of the different domains of the WHOQOL-BREF. CONCLUSIONS: Our study revealed impaired HRQOL in semi-precious stone miners evaluated using both questionnaire tools of SGRQ and WHOQOL-BREF, of which SGRQ had superior performance. Respiratory symptoms, functional impairment, and pack-years of cigarette smoking were the most important determinants of the workers' general HRQOL.

Lung function and functional exercise capacity in underground semi-precious stone mineworkers.

BACKGROUND: Semi-precious stone mining may cause occupational lung disease. The impact of inhaling silica on workers' exercise capacity has only been partially studied. OBJECTIVES: To study lung function, exercise capacity, and identify factors associated with functional impairment. METHODS: In a cross-sectional study of 193 current miners from Ametista do Sul, Rio Grande do Sul, Brazil, medical and occupational data were collected. The diagnosis of silicosis was established by the history of dust exposure and chest radiographic findings. All workers performed a spirometry and a 6-minute walk test (6MWT). RESULTS: Of the sample 51 (26.4%) had silicosis. Time working in mine was 14.7±8.7 years. Spirometry showed a normal, restrictive or obstructive ventilatory pattern in 75.1 %, 13 % and 9.3 % of the workers, respectively. The diagnosis of silicosis and length of time working in mining negatively affected lung function, although exercise capacity was preserved. In the multivariate analysis, time working in mining, diagnosis of silicosis and education remained significant for forced expiratory volume in one second (FEV1; r = 0.60; r2 = 0.36; p < 0.001) and age and height for distance in 6MWT (r = 0.66; r2 = 0.43; p < 0.001). CONCLUSIONS: Our results show impaired lung function and preserved exercise capacity in current mineworkers exposed to silica. Length of time working in mining, presence of silicosis and lower education were factors associated with reduced lung function.

O suicídio e a rede de atenção psicossocial em uma capital no sul do Brasil / El suicidio y la red de atención psicosocial en una capital del sur de Brasil / Suicide and psychosocial attention network in a capital in the southern Brazilian capital

Objetivos: analisar a progressão do coeficiente de mortalidade por suicídio e a oferta de serviços da rede de atenção psicossocial (RAPS) no atendimento de pessoas com risco ou tentativa de lesões autoprovocadas intencionalmente. Método: estudo de série histórica, entre 2001 a 2017, no município de Porto Alegre, Rio Grande do Sul, Brasil. Utilizaram-se dados secundários oriundos dos sistemas de informação e de relatório da gestão. Resultados: o coeficiente anual de suicídio foi de 6,51/100.000 habitantes. Predominou o sexo masculino (77,26%), faixa etária de 20 a 59 anos (76,18%) e raça branca (86,70%). A RAPS em parte atende as necessidades e demandas, com destaque para 183 leitos hospitalares e 12 Centros de Atenção Psicossocial. Conclusões: as ações de prevenção do suicídio precisam ser sinérgicas em todos os níveis de atenção à saúde, com profissionais de saúde qualificados por meio da educação permanente para atender essa complexidade do sofrimento psíquico.

Aim: to analyze the progression of the suicide mortality coefficient and the provision of psychosocial care network services (PCNS/RAPS in Portuguese) during the care service for people at risk or attempting intentional self-harm. Method: a historical series study, from 2001 to 2017, based on the city of Porto Alegre, Rio Grande do Sul, Brazil. Data from information and management reporting systems were used. Results: the annual suicide rate was 6.51 / 100,000 inhabitants. Prevalence was of males (77.26%), age group of 20 to 59 years (76.18%) and white ethnicity (86.70%). RAPS partially meets the needs and demands, which refers, mainly, to 183 hospital beds and 12 Psychosocial Care Centers. Conclusions: Suicide prevention actions need to be synergistic at all levels of health care, with qualified health professionals through lifelong education to address this complexity of psychic suffering.

Objetivos: analizar la progresión del coeficiente de mortalidad por suicidio y la oferta de servicios en la red de atención psicosocial (RAPS) para la atención de personas en riesgo o intento de lesiones autoinfligidas intencionalmente. Método: estudio de serie histórica (2001-2017) en la ciudad de Porto Alegre (capital del Rio Grande do Sul, Brasil). Se utilizó datos secundarios de los sistemas de información y de informe de gestión. Resultados: el coeficiente anual de suicidio fue de 6,51/100.000 habitantes. Predominó: sexo masculino (77,26%), franja etaria 20-59 años (76,18%) y raza blanca (86,70%). La RAPS atiende en parte las necesidades y demandas, contando con 183 hamacas hospitalarias y 12 Centros de Atención Psicosocial. Conclusiones: las acciones de prevención del suicidio necesitan ser sinérgicas en todos los niveles de atención a la salud y deben estar a cargo de profesionales cualificados mediante educación permanente para atender la complejidad del sufrimiento psíquico.

Práticas exitosas dos preceptores de uma residência multiprofissional: interface com a interprofissionalidade / Preceptor's best practices in a multiprofessional residency: interface with interprofessionality

Resumo Nosso artigo, fundamentado na Pesquisa Apreciativa, apresenta e discute as melhores práticas de um grupo de preceptores de um programa de residência multiprofissional em Saúde. As melhores práticas identificadas são: a consulta multiprofissional, o acolhimento dos residentes e as ações integradas entre as diferentes ênfases da residência. Além dessas, identificaram-se as estratégias para desenvolver as práticas nos cenários de saúde que seguem os pressupostos da educação interprofissional, já que promovem a reflexão de diferentes atores do processo na construção de práticas que buscam maior atenção à saúde dos usuários do Sistema Único de Saúde (SUS).(AU)

Resumen Nuestro artículo, fundamentado en la investigación apreciativa, presenta y discute las mejores prácticas de un grupo de preceptores de un Programa de Residencia Multiprofesional en Salud. las mejores prácticas identificadas son: la consulta multiprofesional, la acogida de los residentes y las acciones integradas entre los diferentes énfasis de la residencia. Además de esas, se identificaron las estrategias para desarrollar las prácticas en los escenarios de Salud que siguen los supuestos de la educación interprofesional, puesto que promueven la reflexión de diferentes actores del proceso en la construcción de prácticas que buscan una mejor atención de la salud de los usuarios del Sistema Brasileño de Salud (SUS).(AU)

ABSTRACT In this article, based on Appreciative Inquiry, we present and discuss the best practices of a group of preceptors from a multiprofessional health residency program in Brazil. The best practices we identified are the multiprofessional consultation, the reception given to residents, and the integrated actions among different majors of the residency. In addition, we identified their strategies to develop the practices in health settings. The practices follow the presuppositions of interprofessional education, as they promote the reflection of different actors on the construction of practices that aim at the provision of better healthcare for users of the Brazilian National Health System (SUS).(AU)