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Ben-Reuven, L., & Reiner, O. (2016). Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD. Dev Growth Differ, 58(5), 481–491.
Abstract: The opportunity to model autism spectrum disorders (ASD) through generation of patient-derived induced pluripotent stem cells (iPSCs) is currently an emerging topic. Wide-scale research of altered brain circuits in syndromic ASD, including Rett Syndrome, Fragile X Syndrome, Angelman's Syndrome and sporadic Schizophrenia, was made possible through animal models. However, possibly due to species differences, and to the possible contribution of epigenetics in the pathophysiology of these diseases, animal models fail to recapitulate many aspects of ASD. With the advent of iPSCs technology, 3D cultures of patient-derived cells are being used to study complex neuronal phenotypes, including both syndromic and nonsyndromic ASD. Here, we review recent advances in using iPSCs to study various aspects of the ASD neuropathology, with emphasis on the efforts to create in vitro model systems for syndromic and nonsyndromic ASD. We summarize the main cellular activity phenotypes and aberrant genetic interaction networks that were found in iPSC-derived neurons of syndromic and nonsyndromic autistic patients.
Keywords: autism; autism spectrum disorder; brain development; disease model; induced pluripotent stem cell
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Benach, J., Vives, A., Tarafa, G., Delclos, C., & Muntaner, C. (2016). What should we know about precarious employment and health in 2025? framing the agenda for the next decade of research. Int J Epidemiol, .
Abstract: The generalization of flexible labour markets, the declining influence of unions and the degradation of social protection has led to the emergence of new forms of employment at the expense of the Standard Employment Relationship, as well as a considerable amount of research across social and scientific disciplines. Years ago we suggested the urgent need to disentangle the consequences of new types of employment for the health and well-being of workers, contending that the study of precarious employment and health is in its infancy. Today, research challenges include clearer, more precise definitions of the original concepts, a more detailed understanding of the pathways and mechanisms through which precarious employment harms worker health, stronger information systems for monitoring the problem and a complex systems approach to employment conditions and health research. All of these must be guided by the theoretical and policy debates linking precarious employment and health, and be geared towards developing better tools for the design, implementation and evaluation of policies intended to minimize precariousness in the labour market and its effects on public health and health inequalities. Our aim in this paper is to outline an agenda for the next decade of research on precarious employment and health, establishing a compelling programme that expands our understanding of complex causes and links.
Keywords: Precarious employment; employment conditions; health inequalities; occupational health; social determinants of health; social epidemiology; working conditions
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Bermedo-Carrasco, S., & Waldner, C. L. (2016). The role of socio-demographic factors in premature cervical cancer mortality in Colombia. BMC Public Health, 16, 981.
Abstract: BACKGROUND: While cervical cancer (CC) is an important cause of premature mortality in Colombia, the impact of socio-demographic factors on CC mortality in young women is not well understood. The primary objective of this study was to identify differences in CC mortality among Colombian women aged 20-49 years associated with education, type of health insurance, urban or rural and region of residence, and to determine whether differences in mortality associated with education or insurance varied by age. METHODS: Cervical cancer deaths for 2005-2013 and risk factors were obtained from the National Administrative Department of Statistics. Populations at risk were calculated from age-stratified population projections and the 2010 National and Demographic Health Survey. Negative binomial regression models, stratified by age, were used to examine associations between socio-demographic factors and mortality rates and whether the effects of education and health insurance varied by age. Multiple imputation was used to examine the importance of missing data. RESULTS: Differences of CC mortality were identified among women with limited to no education compared to highly educated women, with the largest disparity in the youngest age group (IRR 26.8, 95 % CI 6.65-108). Differences in mortality associated with health insurance also varied based on age group. Women with contributory and special health insurance had lower mortality rates than women with subsidised or no health insurance, except in the youngest age group. No differences were observed between women with subsidised and those with no insurance in any age group. Mortality rates were high among women who resided in urban areas and in the Atlantic, Central, Pacific, and Amazon-Orinoquia regions of Colombia. Missing values in the mortality database did not impact the findings from this study. CONCLUSIONS: Limited education was most strongly associated with premature CC mortality in the youngest women. Subsidised insurance did not appear to provide significant protection against CC mortality when compared to not having insurance, suggesting the need to examine diagnostic and treatment services available under the subsidised insurance plan. Our results could be used to target interventions to optimise the impact of resources to prevent premature mortality due to CC in Colombia.
Keywords: Adult; Age Factors; Colombia/epidemiology; Demography; Educational Status; Female; Health Surveys; Humans; Insurance, Health/statistics & numerical data; Middle Aged; *Mortality, Premature; Regression Analysis; Rural Population/statistics & numerical data; *Socioeconomic Factors; Urban Population/statistics & numerical data; Uterine Cervical Neoplasms/*mortality; Young Adult; Colombia; Inequities; Mortality; Socioeconomic factors; Uterine cervical neoplasms
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Bernal, R. T. I., Malta, D. C., Iser, B. P. M., & Monteiro, R. A. (2016). [Method for projecting indicators for the goals of the Strategic Action Plan for Tackling Chronic Non-Communicable Diseases in Brazil according to Capitals and the Federal District] (Vol. 25).
Abstract: OBJECTIVE: to present the indicators' projection method of the Strategic Action Plan for Tackling Chronic Non-Communicable Diseases (NCDs) in Brazilian State capitals and the Federal District, 2012-2022. METHODS: simple linear regression model was used to calculate the indicators' projections with data from the Surveillance System of Risk and Protective Factors for Chronic Diseases by Telephone Survey (Vigitel). RESULTS: in most of the capitals, there was an increase in the prevalence of obesity (annual change: 0.36%;1.29%), overweight (annual change: 1.11%;2.00%), recommended (annual change: 1.45%;2.66%) and regular (annual change: 0.45%;1.46%) consumption of fruits and vegetables; smoking presented a decreasing trend (annual change: -1.34%;-0.20%); whereas physical inactivity, heavy drinking and mammography and Pap smears examinations were stable. CONCLUSION: most of the goals are possible; however, effective actions are necessary, especially for tackling overweight and heavy drinking.
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Berto, S., Usui, N., Konopka, G., & Fogel, B. L. (2016). ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism. Hum Mol Genet, 25(12), 2451–2464.
Abstract: The role of post-transcriptional gene regulation in human brain development and neurodevelopmental disorders remains mostly uncharacterized. ELAV-like RNA-binding proteins (RNAbps) are a family of proteins that regulate several aspects of neuronal function including neuronal excitability and synaptic transmission, both critical to the normal function of the brain in cognition and behavior. Here, we identify the downstream neuronal transcriptional and splicing networks of ELAVL2, an RNAbp with previously unknown function in the brain. Expression of ELAVL2 was reduced in human neurons and RNA-sequencing was utilized to identify networks of differentially expressed and alternatively spliced genes resulting from haploinsufficient levels of ELAVL2. These networks contain a number of autism-relevant genes as well as previously identified targets of other important RNAbps implicated in autism spectrum disorder (ASD) including RBFOX1 and FMRP. ELAVL2-regulated co-expression networks are also enriched for neurodevelopmental and synaptic genes, and include genes with human-specific patterns of expression in the frontal pole. Together, these data suggest that ELAVL2 regulation of transcript expression is critical for neuronal function and clinically relevant to ASD.
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