Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Background: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome is a rare recessive disorder caused by mutations in the FOXP3 gene. In addition, there has been an increasing number of patients with wild-type FOXP3 gene and, in some cases, mutations in other immune regulatory genes.Objective: To molecularly asses a cohort of 173 patients with the IPEX phenotype and to delineate the relationship between the clinical/immunologic phenotypes and the genotypes.Methods: We reviewed the clinical presentation and laboratory characteristics of each patient and compared clinical and laboratory data of FOXP3 mutation-positive (IPEX patients) with those from FOXP3 mutation-negative patients (IPEX-like). A total of 173 affected patients underwent direct sequence analysis of the FOXP3 gene while 85 IPEX-like patients with normal FOXP3 were investigated by a multiplex panel of “Primary Immune Deficiency (PID—related) genes.”Results: Forty-four distinct FOXP3 variants were identified in 88 IPEX patients, 9 of which were not previously reported. Among the 85 IPEX-like patients, 19 different disease-associated variants affecting 9 distinct genes were identified.Conclusions: We provide a comprehensive analysis of the clinical features and molecular bases of IPEX and IPEX-like patients. Although we were not able to identify major distinctive clinical features to differentiate IPEX from IPEX-like syndromes, we propose a simple flow-chart to effectively evaluate such patients and to focus on the most likely molecular diagnosis. Given the large number of potential candidate genes and overlapping phenotypes, selecting a panel of PID-related genes will facilitate a molecular diagnosis

Regional geographies, gender and the question of location in recent Japanese film

From at least the 1990s, Japanese film and television has displayed a wide range of locations shot and produced over the Asia-Pacific. Some critics have discussed such intensified popular concern for the region as “strategic,” as it responds to challenges “to its own national-cultural identity in an era of widely proliferated Asian modernities” (Iwabuchi). Others have discussed it in terms of its participation in film and media networks that have proliferated across places like Hong Kong, Taiwan and South Korea (Yomota). Yet both arguments suggest a backdrop of contested and precariously changing geographies, relations and industries across the region. This presentation will address popular films as they engage with the production of locations over Taiwan, Hong Kong and the PRC. What might the stakes of such multi-sited media production and location be? Not only an appeal to industries or audiences, the geographies they construct and negotiate also reflect upon imperatives for locality, history, memory and gender across the region. In relation to such film production, this presentation will address concerns for the past as they are negotiated in present (regional) landscapes, the difficulties of gender (especially of masculinity) to their construction, and the centrality of Tokyo as a space from which to imagine elsewhere

Emergent visions : adjacency and urban screens

Emergent Visions gathers a group of international artists, curators, and scholars for dialogue and thoughtful critique concerning the diverse frames and practices through which we might recognize the emergent and evocative visions, affects, and practices potentiated in and around urban screens. Hosted by The School of Art, Design and Media at Nanyang Technological University, with support and collaboration from Indiana University and the School of Arts, Technology, and Emerging Communication at University of Texas Dallas, this symposium provides a platform for expanding our conceptions of mediated public space, and for developing modes of inquiry that reflect upon, and even challenge how we might newly engage with these spaces and surfaces – from various scales and contexts and with great sensitivity to a range of perspectives.Published versio

Practices and poetics of urban media art in the shadows of the illuminated city

This panel explores a range of strategies, poetics and possibilities of media art in and of urban public space practiced not in the spotlight but adjacent to and in the shadows of the spectacle. Each paper envisions a different mode of illumination, engagement and altered perception of our urban environs, calling our attention to ways of being in and sensing spaces and places that are often unnoticed, invisible or taken for granted. From media artists’ interventions that ask us to reflect upon the politics of disenchantment with the media saturated everyday in urban China, to the ways in which public art can potentially challenge the conventions of art not as object but as acts or gestures inscribed in the city itself and embodied in the memories of its inhabitants, to the design of urban interfaces that make visible overlooked cultural histories of peoples and places in Singapore, these papers present an inquiry into the ways in which urban media art can contribute towards a re-imagining and nuanced perception of the city’s corners, cracks and shadows and our sense of nature, place, poetics and politics in public space.Published versio

MOESM2 of Metabolic syndrome severity is significantly associated with future coronary heart disease in Type 2 diabetes

Additional file 2: Table S1. Models of MetS (and MetS severity) in individuals with diabetes on incident CHD. Table S2. Models of MetS (and MetS severity) in individuals with diabetes on incident CHD by time of diabetes diagnosis. Table S3. Models of standard MetS severity in individuals with baseline diabetes on incident CHD with and without inclusion of HbA1c at Visit 2

MOESM1 of Metabolic syndrome severity is significantly associated with future coronary heart disease in Type 2 diabetes

Additional file 1: Figure S1. Levels of the individual MetS components by timing of diabetes diagnosis. Model-generated values of A). waist circumference, B). systolic blood pressure, C). HDL-cholesterol, D). fasting triglycerides, and E). fasting glucose for participants with diabetes at baseline (Visit 1), and those diagnosed by Visits 2, 3, and 4, compared to those never diagnosed. All models were stratified by site and included age (at baseline), sex, and race as covariates. Figure S2. No-glucose MetS severity Z-scores by sex and race. Model-generated values for A). standard and B). no-glucose MetS severity Z-scores for participants with diabetes at baseline (Visit 1), and those diagnosed by Visits 2, 3, and 4, compared to those never diagnosed. All models were stratified by site and included age (at baseline), sex, and race as covariates