The impact of multiple sclerosis on the identity of mothers in Italy

Purpose: This paper reports on one of the themes that emerged from the analysis of the study, regarding the perceived influence of multiple sclerosis (MS) on the identity of mothers in the socio-cultural context of Italy. Method: In-depth interviews were conducted with 16 women at various stages of MS, with follow up interviews with seven of the women. Phenomenology guided the methodology and the analysis was conducted using interpretative phenomenological analysis. Results: Through the research the value of motherhood to the women who participated emerged. The findings illustrated how many strove to maintain controlof their MS, which led to some making comparisons of themselves and other mothers and feeling different. Some women described how they adjusted their roles and found strength in being mothers but others spoke of their feelings of loss. Most women described living in the moment, appreciating the present and living each day as it came. Another significant experience was fear of stigma, both realized in the form of “pity” from others, and the perceived and actual associated stigma for their families. This contributed to why some women were reluctant to disclose their condition. The mothers who took part in this study differed in how they perceived their disabled identity. Conclusion: Although this study was conducted in the socio-cultural setting of Italy, the findings have implications for professionals working with disabled mothers and women with MS in Italy and beyond; including recognizing the value associated with fully identifying oneself as a mother, rather than solely focusing on doingmothering tasks. • Implications for Rehabilitation • Professionals need to be mindful of the value of motherhood for women with multiple sclerosis. • Professionals should support women who feel like they are battling with maintaining control of their multiple sclerosis, who may be adjusting their identity as mothers; recognizing that they may be influenced by the stage of their multiple sclerosis and whether they were diagnosed before or after having their children. • Women can have feelings of loss related to their ability to fully participate in their children’s lives and professionals should work with women to help them identify the value of their mothering role not only in physically participating in activities but also in being emotionally and physically present as a mother

Piecewise smooth systems near a co-dimension 2 discontinuity manifold: can one say what should happen?

We consider a piecewise smooth system in the neighborhood of a co-dimension 2 discontinuity manifold $\Sigma$. Within the class of Filippov solutions, if $\Sigma$ is attractive, one should expect solution trajectories to slide on $\Sigma$. It is well known, however, that the classical Filippov convexification methodology is ambiguous on $\Sigma$. The situation is further complicated by the possibility that, regardless of how sliding on $\Sigma$ is taking place, during sliding motion a trajectory encounters so-called generic first order exit points, where $\Sigma$ ceases to be attractive. In this work, we attempt to understand what behavior one should expect of a solution trajectory near $\Sigma$ when $\Sigma$ is attractive, what to expect when $\Sigma$ ceases to be attractive (at least, at generic exit points), and finally we also contrast and compare the behavior of some regularizations proposed in the literature. Through analysis and experiments we will confirm some known facts, and provide some important insight: (i) when $\Sigma$ is attractive, a solution trajectory indeed does remain near $\Sigma$, viz. sliding on $\Sigma$ is an appropriate idealization (of course, in general, one cannot predict which sliding vector field should be selected); (ii) when $\Sigma$ loses attractivity (at first order exit conditions), a typical solution trajectory leaves a neighborhood of $\Sigma$; (iii) there is no obvious way to regularize the system so that the regularized trajectory will remain near $\Sigma$ as long as $\Sigma$ is attractive, and so that it will be leaving (a neighborhood of) $\Sigma$ when $\Sigma$ looses attractivity. We reach the above conclusions by considering exclusively the given piecewise smooth system, without superimposing any assumption on what kind of dynamics near $\Sigma$ (or sliding motion on $\Sigma$) should have been taking place.Comment: 19 figure

Turning points: the personal and professional circumstances that lead academics to become middle managers

In the current higher education climate, there is a growing perception that the pressures associated with being an academic middle manager outweigh the perceived rewards of the position. This article investigates the personal and professional circumstances that lead academics to become middle managers by drawing on data from life history interviews undertaken with 17 male and female department heads from a range of disciplines, in a post-1992 UK university. The data suggests that experiencing conflict between personal and professional identities, manifested through different socialization experiences over time, can lead to a ‘turning point’ and a decision that affects a person’s career trajectory. Although the results of this study cannot be generalized, the findings may help other individuals and institutions move towards a firmer understanding of the academic who becomes head of department—in relation to theory, practice and research

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.

BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tissue has not been determined.MethodsWe developed a new computational method, EM-mosaic (Expectation-Maximization-based detection of mosaicism), to analyze mosaicism in exome sequences derived primarily from blood DNA of 2530 CHD proband-parent trios. To optimize this method, we measured mosaic detection power as a function of sequencing depth. In parallel, we analyzed our cohort using MosaicHunter, a Bayesian genotyping algorithm-based mosaic detection tool, and compared the two methods. The accuracy of these mosaic variant detection algorithms was assessed using an independent resequencing method. We then applied both methods to detect mosaicism in cardiac tissue-derived exome sequences of 66 participants for which matched blood and heart tissue was available.ResultsEM-mosaic detected 326 mosaic mutations in blood and/or cardiac tissue DNA. Of the 309 detected in blood DNA, 85/97 (88%) tested were independently confirmed, while 7/17 (41%) candidates of 17 detected in cardiac tissue were confirmed. MosaicHunter detected an additional 64 mosaics, of which 23/46 (50%) among 58 candidates from blood and 4/6 (67%) of 6 candidates from cardiac tissue confirmed. Twenty-five mosaic variants altered CHD-risk genes, affecting 1% of our cohort. Of these 25, 22/22 candidates tested were confirmed. Variants predicted as damaging had higher variant allele fraction than benign variants, suggesting a role in CHD. The estimated true frequency of mosaic variants above 10% mosaicism was 0.14/person in blood and 0.21/person in cardiac tissue. Analysis of 66 individuals with matched cardiac tissue available revealed both tissue-specific and shared mosaicism, with shared mosaics generally having higher allele fraction.ConclusionsWe estimate that ~ 1% of CHD probands have a mosaic variant detectable in blood that could contribute to cardiac malformations, particularly those damaging variants with relatively higher allele fraction. Although blood is a readily available DNA source, cardiac tissues analyzed contributed ~ 5% of somatic mosaic variants identified, indicating the value of tissue mosaicism analyses