38 research outputs found
“Così è (se vi pare)”: Remarks on subjective well-being from a resource-based perspective
The present international interest on subjective well-being in research and policy-making is put under a critical eye from the perspective of the Scandinavian resource-based approach on well-being. In its stereotypical formulation, the Scandinavian approach is first and foremost interested in access to sufficient resources for all, and also in fair distribution of resources in the population. The approach leaves little space for subjective well-being, or leaves it as a private issue that is not a policy concern. From the Scandinavian perspective, it seems that many research ideas and policy proposals inspired by subjective well-being can be returned to resource-based approach. The paper discusses critically some recent proposals of strengthening the role of subjective well-being in research and policy. It also points out that the Scandinavian approach is not a monolith, but a number of side currents have always existed there, including ideas related to subjective well-being. Finally, the paper describes a rising interest in subjective well-being in the Nordic countries, too, although resource-based approach still dominates in welfare policies
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
<p>Abstract</p> <p>Background</p> <p>Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments.</p> <p>Case Presentation</p> <p>A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5<sup>th </sup>fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence <it>in situ</it> hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13)t(13;16)(q33;p13.3)]. Specific BAC-probes were used to confirm the extent of the 13q deletion.</p> <p>Conclusion</p> <p>This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.</p