Cardiac manifestations of PRKAG2 mutation.

BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease presents clinically with hypertrophic cardiomyopathy (HCM), and it is often associated with conduction abnormalities. CASE PRESENTATION:A 23 year-old female with history of Wolff-Parkinson-White (WPW) and HCM presented for evaluation after an episode of Non-ST Elevation Myocardial Infarction (NSTEMI). The patient was found to have severe coronary bridging on angiography and underwent an unroofing of the left anterior descending artery (LAD). Due to the constellation of symptoms, the patient underwent genetic testing and a cardiac muscle biopsy. Genetic testing was significant for an Arg302Gln mutation in the PRKAG2 gene. Cardiac tissue biopsy revealed significant myocyte hypertrophy and large vacuoles with glycogen stores. CONCLUSION:The pathologic and genetics findings of our patient are consistent with PRKAG2 syndrome. Patients presenting with conduction abnormalities and suspected HCM should be considered for genetic testing to identify possible underlying genetic etiologies

Hypertrophic and Fibrotic Human PKD Hearts are Associated with Macrophage Infiltration and Abnormal TGF-β1 Signaling

Autosomal dominant polycystic kidney disease (PKD) is a hereditary kidney disorder which can affect cardiovascular system. Cardiac hypertrophy and cardiomyopathy in PKD have been reported by echocardiography analyses, but histopathology analyses of human PKD hearts have never been examined. The current studies evaluated human heart tissues from five subjects without PKD (non-PKD) and five subjects with PKD. Our histopathology data of human PKD hearts showed an increased extracellular matrix associated with cardiac hypertrophy and fibrosis. Hypertrophy- and fibrosis-associated pathways involving abnormal cardiac structure were next analyzed. We found that human PKD myocardium was infiltrated by inflammatory macrophage M1 and M2; expression of transforming growth factor (TGF-β1) and its receptor were upregulated with overexpression of pSmad3 and β-catenin. Because patients with PKD have an abnormal kidney function that could potentially affect heart structure, we used a heart-specific PKD mouse model to validate that cardiac hypertrophy and fibrosis were independent from polycystic kidney. In summary, our data show that hearts from human PKD were characterized by hypertrophy, interstitial fibrosis, perivascular fibrosis, and conduction system fibrosis with upregulated TGF-β1 and its receptor. We suggest that such structural abnormalities may predispose to systolic and diastolic cardiac dysfunction in the PKD myocardium

Ariel - Volume 12(13) Number 2

Editor Gary Fishbein Production & Business Manager Rich Davis Layout Editor Lynn Solomon Assistant Layout Editors Bessann Dawson Tonie Kline Becky A. Zuurbier Photography Editor Ben Alma

Effect of a Brief Video Intervention on Incident Infection among Patients Attending Sexually Transmitted Disease Clinics

In a controlled trial at three urban STD clinics, Lee Warner and colleagues find that showing an educational video in waiting rooms reduced new infections by approximately 10%

Demographic, social cognitive and social ecological predictors of intention and participation in screening for colorectal cancer

Extent: 10p.Background: Previous research points to differences between predictors of intention to screen for colorectal cancer (CRC) and screening behavior, and suggests social ecological factors may influence screening behavior. The aim of this study was to compare the social cognitive and social ecological predictors of intention to screen with predictors of participation. Methods: People aged 50 to 74 years recruited from the electoral roll completed a baseline survey (n = 376) and were subsequently invited to complete an immunochemical faecal occult blood test (iFOBT). Results: Multivariate analyses revealed five predictors of intention to screen and two predictors of participation. Perceived barriers to CRC screening and perceived benefits of CRC screening were the only predictor of both outcomes. There was little support for social ecological factors, but measurement problems may have impacted this finding. Conclusions: This study has confirmed that the predictors of intention to screen for CRC and screening behaviour, although overlapping, are not the same. Research should focus predominantly on those factors shown to predict participation. Perceptions about the barriers to screening and benefits of screening are key predictors of participation, and provide a focus for intervention programs.Tess A Gregory, Carlene Wilson, Amy Duncan, Deborah Turnbull, Stephen R Cole and Graeme Youn

Capillary Proliferation in Systemic-Sclerosis-Related Pulmonary Fibrosis: Association with Pulmonary Hypertension

We sought to determine if any histopathologic component of the pulmonary microcirculation can distinguish systemic sclerosis (SSc)-related pulmonary fibrosis (PF) with and without pulmonary hypertension (PH)

Conceptualizing leadership perceptions as attitudes:using attitude theory to further the understanding of the relation between leadership and outcomes

Leadership is one of the most examined factors in relation to understanding employee wellbeing and performance. While there are disparate approaches to studying leadership, they share a common assumption that perceptions of a leader's behavior determine reactions to the leader. The concept of leadership perception is poorly understood in most theoretical approaches. To address this, we propose that there are many benefits from examining leadership perceptions as an attitude towards the leader. In this review, we show how research examining a number of aspects of attitudes (content, structure and function) can advance understanding of leadership perceptions and how these affect work-related outcomes. Such a perspective provides a more multi-faceted understanding of leadership perceptions than previously envisaged and this can provide a more detailed understanding of how such perceptions affect outcomes. In addition, we examine some of the main theoretical and methodological implications of viewing leadership perceptions as attitudes to the wider leadership area. The cross-fertilization of research from the attitudes literature to understanding leadership perceptions provides new insights into leadership processes and potential avenues for further research. (C) 2015 Elsevier Inc. All rights reserve

The Digital Fish Library: Using MRI to Digitize, Database, and Document the Morphological Diversity of Fish

Museum fish collections possess a wealth of anatomical and morphological data that are essential for documenting and understanding biodiversity. Obtaining access to specimens for research, however, is not always practical and frequently conflicts with the need to maintain the physical integrity of specimens and the collection as a whole. Non-invasive three-dimensional (3D) digital imaging therefore serves a critical role in facilitating the digitization of these specimens for anatomical and morphological analysis as well as facilitating an efficient method for online storage and sharing of this imaging data. Here we describe the development of the Digital Fish Library (DFL, http://www.digitalfishlibrary.org), an online digital archive of high-resolution, high-contrast, magnetic resonance imaging (MRI) scans of the soft tissue anatomy of an array of fishes preserved in the Marine Vertebrate Collection of Scripps Institution of Oceanography. We have imaged and uploaded MRI data for over 300 marine and freshwater species, developed a data archival and retrieval system with a web-based image analysis and visualization tool, and integrated these into the public DFL website to disseminate data and associated metadata freely over the web. We show that MRI is a rapid and powerful method for accurately depicting the in-situ soft-tissue anatomy of preserved fishes in sufficient detail for large-scale comparative digital morphology. However these 3D volumetric data require a sophisticated computational and archival infrastructure in order to be broadly accessible to researchers and educators