Neuroimaging in Dementia

Dementia is a common illness with an incidence that is rising as the aged population increases. There are a number of neurodegenerative diseases that cause dementia, including Alzheimer’s disease, dementia with Lewy bodies, and frontotemporal dementia, which is subdivided into the behavioral variant, the semantic variant, and nonfluent variant. Numerous other neurodegenerative illnesses have an associated dementia, including corticobasal degeneration, Creutzfeldt–Jakob disease, Huntington’s disease, progressive supranuclear palsy, multiple system atrophy, Parkinson’s disease dementia, and amyotrophic lateral sclerosis. Vascular dementia and AIDS dementia are secondary dementias. Diagnostic criteria have relied on a constellation of symptoms, but the definite diagnosis remains a pathologic one. As treatments become available and target specific molecular abnormalities, differentiating amongst the various primary dementias early on becomes essential. The role of imaging in dementia has traditionally been directed at ruling out treatable and reversible etiologies and not to use imaging to better understand the pathophysiology of the different dementias. Different brain imaging techniques allow the examination of the structure, biochemistry, metabolic state, and functional capacity of the brain. All of the major neurodegenerative disorders have relatively specific imaging findings that can be identified. New imaging techniques carry the hope of revolutionizing the diagnosis of neurodegenerative disease so as to obtain a complete molecular, structural, and metabolic characterization, which could be used to improve diagnosis and to stage each patient and follow disease progression and response to treatment. Structural and functional imaging modalities contribute to the diagnosis and understanding of the different dementias

“We wouldn’t of made friends if we didn’t come to Football United”: the impacts of a football program on young people’s peer, prosocial and cross-cultural relationships

Background Sport as a mechanism to build relationships across cultural boundaries and to build positive interactions among young people has often been promoted in the literature. However, robust evaluation of sport-for-development program impacts is limited. This study reports on an impact evaluation of a sport-for-development program in Australia, Football United®. Methods A quasi-experimental mixed methods design was employed using treatment partitioning (different groups compared had different levels of exposure to Football United). A survey was undertaken with 142 young people (average age of 14.7 years with 22.5% of the sample comprising girls) in four Australian schools. These schools included two Football United and two Comparison schools where Football United was not operating. The survey instrument was composed of previously validated measures, including emotional symptoms, peer problems and relationships, prosocial behaviour, other-group orientation, feelings of social inclusion and belonging and resilience. Face to face interviews were undertaken with a purposeful sample (n = 79) of those who completed the survey. The participants in the interviews were selected to provide a diversity of age, gender and cultural backgrounds. Results Young people who participated in Football United showed significantly higher levels of other-group orientation than a Comparison Group (who did not participate in the program). The Football United boys had significantly lower scores on the peer problem scale and significantly higher scores on the prosocial scale than boys in the Comparison Group. Treatment partitioning analyses showed positive, linear associations between other-group orientation and total participation in the Football United program. A lower score on peer problems and higher scores on prosocial behaviour in the survey were associated with regularity of attendance at Football United. These quantitative results are supported by qualitative data analysed from interviews. Conclusions The study provides evidence of the effects of Football United on key domains of peer and prosocial relationships for boys and other-group orientation for young people in the program sites studied. The effects on girls, and the impacts of the program on the broader school environment and at the community level, require further investigation

Tephrochronology

Tephrochronology is the use of primary, characterized tephras or cryptotephras as chronostratigraphic marker beds to connect and synchronize geological, paleoenvironmental, or archaeological sequences or events, or soils/paleosols, and, uniquely, to transfer relative or numerical ages or dates to them using stratigraphic and age information together with mineralogical and geochemical compositional data, especially from individual glass-shard analyses, obtained for the tephra/cryptotephra deposits. To function as an age-equivalent correlation and chronostratigraphic dating tool, tephrochronology may be undertaken in three steps: (i) mapping and describing tephras and determining their stratigraphic relationships, (ii) characterizing tephras or cryptotephras in the laboratory, and (iii) dating them using a wide range of geochronological methods. Tephrochronology is also an important tool in volcanology, informing studies on volcanic petrology, volcano eruption histories and hazards, and volcano-climate forcing. Although limitations and challenges remain, multidisciplinary applications of tephrochronology continue to grow markedly

Metabolic follow-up at one year and beyond of women with gestational diabetes treated with insulin and/or oral hypoglycaemic agents: study protocol for the identification of a core outcomes set using a Delphi survey.

This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.BACKGROUND: Gestational diabetes (GDM) is associated with an increased lifetime risk for the development of glucose abnormalities, metabolic syndrome, cardiovascular disease, depression and tumours. Despite this high risk of additional comorbidities, there is no standardised approach to the long-term follow-up of women with a previous diagnosis of GDM. Also, there is no standardisation of outcome selection and reporting in studies involving this population. This increases the risk of reporting bias and reduces the possibility of meaningful comparisons between studies. The aim of this study is to develop a protocol for a core outcome set (COS) for the metabolic follow-up at 1 year and beyond of women with previous GDM treated with insulin and/or oral hypoglycaemic agents. METHODS/DESIGN: This protocol will describe the steps that will be taken in order to develop the COS. The study will consist of three parts: (1) A systematic review of the literature of the outcomes reported in previous randomised controlled trials of the follow-up at 1 year and beyond of women with GDM treated with insulin and/or oral hypoglycaemic agents; (2) A three-round, online Delphi survey with key stakeholders in order to prioritise these outcomes; and (3) A consensus meeting where the final COS will be decided. DISCUSSION: The proposed protocol is the first step in developing a COS that will bring consistency and uniformity to outcome selection and reporting in GDM women treated with insulin and/or oral hypoglycaemic agents

Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

International audienceIn monogenic diseases, the presence of several sequence variations in the same allele may complicate our understanding of genotype-phenotype relationships. We described new alterations identified in a cystic fibrosis patient harboring a 48C>G promoter sequence variation associated in cis of a 3532AC>GTA mutation and in trans with the F508del mutation. Functional analyses including in vitro experiments confirmed the deleterious effect of the 3532GTA frameshift mutation through the creation of a premature termination codon. The analyses also revealed that the 48G promoter variant has a negative effect on both transcription and mRNA level, thus demonstrating the importance of analyzing all mutations or sequence variations with potential impact on cystic fibrosis transmembrane conductance regulator (CFTR) processing, even when the two known disease-causing mutations have already been detected. Our results emphasize the need to perform, wherever possible, functional studies that may greatly assist the interpretation of the disease-causing potential of rare mutation-associated sequence variations