Jane

This case study describes the use of antipsychotic medication by an adult woman with learning disabilities. The study first provides detailed clinical information about Jane, drawing on a comprehensive mental health assessment and then provides a thematic analysis of Jane's experiences of antipsychotic medication.

A framework for evaluating the impact of obesity prevention strategies on socioeconomic inequalities in weight

We developed a theoretical framework to organize obesity prevention interventions by their likely impact on the socioeconomic gradient of weight. The degree to which an intervention involves individual agency versus structural change influences socioeconomic inequalities in weight. Agentic interventions, such as standalone social marketing, increase socioeconomic inequalities. Structural interventions, such as food procurement policies and restrictions on unhealthy foods in schools, show equal or greater benefit for lower socioeconomic groups. Many obesity prevention interventions belong to the agento–structural types of interventions, and account for the environment in which health behaviors occur, but they require a level of individual agency for behavioral change, including workplace design to encourage exercise and fiscal regulation of unhealthy foods or beverages. Obesity prevention interventions differ in their effectiveness across socioeconomic groups. Limiting further increases in socioeconomic inequalities in obesity requires implementation of structural interventions. Further empirical evaluation, especially of agento–structural type interventions, remains crucial.

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

The major histocompatibility complex (MHC) on chromosome 6 is associated with susceptibility to more common diseases than any other region of the human genome, including almost all disorders classified as autoimmune. In type 1 diabetes the major genetic susceptibility determinants have been mapped to the MHC class II genes HLA-DQB1 and HLA-DRB1 (refs 1–3), but these genes cannot completely explain the association between type 1 diabetes and the MHC region4, 5, 6, 7, 8, 9, 10, 11. Owing to the region's extreme gene density, the multiplicity of disease-associated alleles, strong associations between alleles, limited genotyping capability, and inadequate statistical approaches and sample sizes, which, and how many, loci within the MHC determine susceptibility remains unclear. Here, in several large type 1 diabetes data sets, we analyse a combined total of 1,729 polymorphisms, and apply statistical methods—recursive partitioning and regression...

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease. To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based sequencing of all IFT-B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in 63 individuals with ATD. We thereby detected biallelic mutations in the IFT-B-encoding gene IFT172 in 12 families. All affected individuals displayed abnormalities of the thorax and/or long bones, as well as renal, hepatic, or retinal involvement, consistent with the diagnosis of ATD or MZSDS. Additionally, cerebellar aplasia or hypoplasia characteristic of Joubert syndrome was present in 2 out of 12 families. Fibroblasts from affected individuals showed disturbed ciliary composition, suggesting alteration of ciliary transport and signaling. Knockdown of ift172 in zebrafish recapitulated the human phenotype and demonstrated a genetic interaction between ift172 and ift80. In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. Our findings link the group of skeletal ciliopathies to an additional IFT-B component, IFT172, similar to what has been shown for IFT-A.

The hard work of leisure: Healthy life, activewear and Lorna Jane

Since the 2000s activewear has grown as a fashion category, and the tropes of gym wear – leggings, leotards and block colours – have become fashionable attire for both men and women outside the gym. This article examines the rise of activewear in the context of an on-going dialogue between fashion and sport since the beginning of the twentieth century. Through an analysis of the Australian activewear label, Lorna Jane, we consider the fashionable female body as both the object and subject of a consumer culture that increasingly overlays leisure with fashion. Activewear can be seen as the embodiment of an active and fashionable lifestyle that is achieved through a regime of self-discipline, and that symbolizes the pleasure in attaining and displaying the healthy and fit body.