Search results for "genetics [Bladder Exstrophy]"

Predictive role of capillaroscopic skin ulcer risk index in systemic sclerosis: A multicentre validation study

2012

IntroductionThe early detection of systemic sclerosis (SSc) patients at high risk of developing digital ulcers could allow preventive treatment, with a reduction of morbidity and social costs. In 2009, a quantitative score, the capillaroscopic skin ulcer risk index (CSURI), calculated according to the formula ‘D×M/N2’, was proposed, which was highly predictive of the appearance of scleroderma digital ulcers within 3 months of capillaroscopic evaluation.ObjectivesThis multicentre study aims to validate the predictive value and reproducibility of CSURI in a large population of SSc patients.MethodsCSURI was analysed in 229 unselected SSc patients by nailfold videocapillaroscopy (NVC). All pati…

Vestibular-evoked myogenic potentials in "vestibular migraine" and Menière's disease: a sign of an electrophysiological link?

2009

Characterizations of the signs and symptoms of "vestibular migraine" and of Meniere's disease seem to overlap, suggesting that both diseases might be due to a common peripheral vestibular dysfunction. Thus, the aim of the present study was to assess vestibular-evoked myogenic potentials (VEMPs) in both disorders to determine whether there might be an electrophysiological link between the two disorders. The amplitude and latency of VEMPs were measured from the sternocleidomastoid muscle in 63 patients with vestibular migraine (median age 47 years, range 24-70 years) and in 16 patients with Meniere's disease (median age 52 years, range 36-72 years), and compared with those of 63 sex- and age-…

Effects of acute exercise and allopurinol administration on soluble urokinase plasminogen activator receptor (suPAR).

2013

Background Although physical exercise acutely increases the most widely used inflammatory biomarkers, there is no information on its effect on soluble urokinase plasminogen activating receptor (suPAR), a circulating biomarker increasingly used for the assessment of systemic inflammation. Methods suPAR was assessed with the quantitative suPARnostic Standard ELISA Assay (Virogates, Birkerod, Denmark) in 12 professional football players before and after a football match. The athletes were divided into two experimental groups. An oral dose of 300 mg of allopurinol was administered to one group of six participants four hours before a match; the other six participants received placebo. Results Se…

Diurnal Variations of Plasma Interleukin-6 in Man: Methodological Implications of Continuous Use of Indwelling Cannulae

2006

Islet autoantibodies in Latvian subjects with non-insulin-dependent diabetes mellitus: slow-onset type 1 diabetes or polyendocrine autoimmunity?

2006

In Latvia diabetes mellitus is diagnosed using the WHO's clinical criteria; assays for the detection of autoantibodies are not available, and hence slowly progressive autoimmune diabetes is likely to be missed. Autoantibodies against glutamic acid decarboxylase (GAD65) and protein tyrosine phosphatase (IA-2) among patients with clinically diagnosed NIDDM identify group of patients with slow-onset type 1 diabetes or LADA. The aim of this study was to estimate the risk of polyendocrine autoimmunity among clinically diagnosed NIDDM patients from Latvia. One hundred NIDDM patients and 100 healthy controls were tested for GAD65 and IA-2 autoantibodies as well as 21-hydroxylase (21-OH) and tissue…

Conditional Self-Entropy and Conditional Joint Transfer Entropy in Heart Period Variability during Graded Postural Challenge.

2015

Self-entropy (SE) and transfer entropy (TE) are widely utilized in biomedical signal processing to assess the information stored into a system and transferred from a source to a destination respectively. The study proposes a more specific definition of the SE, namely the conditional SE (CSE), and a more flexible definition of the TE based on joint TE (JTE), namely the conditional JTE (CJTE), for the analysis of information dynamics in multivariate time series. In a protocol evoking a gradual sympathetic activation and vagal withdrawal proportional to the magnitude of the orthostatic stimulus, such as the graded head-up tilt, we extracted the beat-to-beat spontaneous variability of heart per…

No primary association between LMP2 polymorphisms and extraspinal manifestations in spondyloarthropathies

1997

OBJECTIVE—To investigate the potential role of the HLA-linked LMP2 (low molecular weight protein) gene polymorphisms in conjunction with DR4 and DR7 on extraspinal disease manifestations in HLA-B27 positive patients with spondyloarthropathy.
METHODS—172 patients with spondyloarthropathy, 46 healthy, HLA-B27 positive blood donors, and 99 unrelated controls were typed for HLA-class I and II antigens. LMP2 alleles were determined by polymerase chain reaction and subsequent restriction enzyme digestion.
RESULTS—There were statistically non-significant increases of DR4 and DR7 in spondyloarthropathy subjects. However these differences did not relate to specific extraspinal manifestations. There …

Long term structural effects of combination therapy in patients with early rheumatoid arthritis: five year follow up of a prospective double blind co…

2003

Objective: To evaluate whether early combined therapy with methotrexate (MTX) and sulfasalazine (SSZ) during the first year in early rheumatoid arthritis (RA) induces long term beneficial effects, compared with monotherapy, when the further treatment strategy is a free choice. Methods: Study design: five year multicentre prospective longitudinal trial. Participants: 146/205 patients with RA previously included in a one year prospective randomised trial comparing the effects of treatment with MTX, SSZ, or a combination of both. Criteria for inclusion: patients with early RA (⩽1 year duration). Follow up: between the end of years 1 and 5, patients were followed up and treated by their own rhe…

Respiratory chain polymorphisms and obesity in the Spanish population, a cross-sectional study

2019

ObjectiveTo study the association of genes involved in the mitochondrial respiratory chain (MRC) pathway with body mass index (BMI) and obesity risk.DesignThis work studies three cross-sectional populations from Spain, representing three provinces: HORTEGA (Valladolid, Northwest/Centre), SEGOVIA (Segovia, Northwest/centre) and PIZARRA (Malaga,South).SettingForty-eight single nucleotide polymorphisms (SNPs) from MRC genes were selected and genotyped by SNPlex method. Association studies with BMI and obesity risk were performed for each population. These associations were then verified by analysis of the studied population as a whole (3731 samples).ParticipantsA total of 3731 Caucasian indivi…

Expansion of intestinal Prevotella copri correlates with enhanced susceptibility to arthritis.

2013

Rheumatoid arthritis (RA) is a prevalent systemic autoimmune disease, caused by a combination of genetic and environmental factors. Animal models suggest a role for intestinal bacteria in supporting the systemic immune response required for joint inflammation. Here we performed 16S sequencing on 114 stool samples from rheumatoid arthritis patients and controls, and shotgun sequencing on a subset of 44 such samples. We identified the presence of Prevotella copri as strongly correlated with disease in new-onset untreated rheumatoid arthritis (NORA) patients. Increases in Prevotella abundance correlated with a reduction in Bacteroides and a loss of reportedly beneficial microbes in NORA subjec…