Genetics and genomic studies in scleroderma (systemic sclerosis).

Division of Rheumatology, Department of Internal Medicine, The University of Texas Health Science Center at Houston, 6431 Fannin, MSB 5.270, Houston, TX 77030, USA.
Rheumatic Disease Clinics of North America (Impact Factor: 2.1). 03/2008; 34(1):17-40; v. DOI: 10.1016/j.rdc.2007.10.001
Source: PubMed

ABSTRACT It currently is believed that scleroderma is a complex polygenic disease that occurs in genetically predisposed individuals who have encountered specific environment exposures and/or other stochastic factors. The nature of these genetic determinants and how they interact with environmental factors are areas of active investigation. This article discusses the evidence that supports a strong genetic link to scleroderma. These studies implicate potential pathogenetic mechanisms involved in scleroderma, which, it is hoped, may translate into clinical utility, including determination of disease risk, diagnosis, prognosis, and novel therapeutics.

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    ABSTRACT: Scleroderma affects the gastrointestinal (GI) tract in 90% of all cases. Malnutrition, diarrhea, and constipation are some GI complications that can stem from scleroderma, and they contribute considerably to impairment in quality of life. Reports of haphazard clusters of high prevalence suggest that environmental exposure is a risk factor for scleroderma. However, it is largely uncertain whether the GI involvement secondary to scleroderma is influenced by these environmental factors. This study will review the association between GI involvement (unintentional weight loss, choking, early satiety, etc.) and environmental exposure in patients with scleroderma.Methods/design: Any available observational studies that report GI problems in patients with scleroderma along with the associated risk factors will be selected. We will search CINAHL, EMBASE, LILACS, MEDLINE, and Web of Science for relevant articles written in English from June 1884 to May 2014. Identified articles will be screened in duplicate, and full text for selected articles will be retrieved. Data extraction will be done in duplicate on sociodemographic characteristics of participants, diagnosis of scleroderma, diagnosis of risk of GI problem, risk factors reported, etc. Discrepancies will be resolved by consensus or by consulting a third author. We will assess the participants, methods, and intervention effects of included studies for heterogeneity. Any identified clinical or statistical heterogeneity will be explored visually or using the chi-square test. Data will be pooled statistically using the DerSimmonian and Laird random effects method if we have a measure of relative risk and its imprecision. Our findings will be reported according to the Meta-Analyses and Systematic Review of Observational Studies (MOOSE) guideline.
    Systematic reviews. 10/2014; 3(1):115.
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    ABSTRACT: Oats (Avena sativa L.), which are used in foods, are a potential economically viable source of oil. The purpose of this study was to determine the efficiency of oats oil to alleviate oxidative damage of testis induced by deltamethrin, which is a pyrethroid pesticide that exerts a wide range of effects on non-targeted organisms. The reprotoxicity caused by orally administered deltamethrin (DEL) to mice can be effectively antagonized by the beneficial effects of oats oil (OO) as an antioxidant. Thirty-two male albino mice were divided into four equal groups: a control group, a group of mice given deltamethrin (5 mg per kg b.w.), a group administered deltamethrin after receiving oats oil (6 g per kg b.w.), and a group receiving only OO. Exposure to deltamethrin at a dose of 5 mg per kg b.w. per day caused oxidative stress in testis, proven by a decrease in the epididymal sperm count and motility, an increase in the number of abnormal morphologies in spermatozoa and a significant increase of lipid peroxidation (LP) in the testis when compared to control animals. Co-administration of oats oil to the DEL-treated mice ameliorated the testicular biochemical parameters as well as the histological impairments in testis. We concluded that oats oil ameliorated the toxic effects of deltamethrin in testis explored by reduced LP and improved total sperm density, motility and morphology in mice spermatozoa, suggesting its role as a potential antioxidant.
    Food & Function 07/2014; · 2.69 Impact Factor


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