Search results for "link"
showing 10 items of 1973 documents
Hepatitis B and hepatitis C virus infections in dermatological patients in west Sicily: a seroepidemiological study
2002
Objectives To evaluate the relative frequencies and molecular epidemiological features of viral hepatitis types B and C in dermatological patients in our geographical area. Methods We determined the hepatitis B virus (HBV) and hepatitis C virus (HCV) antibodies and the hepatitis B virus surface antigen (HBsAg) in a cohort of 677 dermatological patients admitted to the Department of Dermatology of Palermo. An 8-mL blood sample was taken from all subjects. The following assays were used: HBsAg, anti-HB core (antigen) (anti-HBc), anti-HB surface (antigen) (anti-HBs), anti-HB early (antigen) (anti-Hbe) and anti-HCV antibodies using enzyme-linked immunosorbent assay. Results One hundred and eigh…
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
2010
The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847-858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified …
Characterization of blink reflex interneurons by activation of diffuse noxious inhibitory controls in man.
1998
The blink reflex consists of an early, pontine R1-component and a late, medullary R2-component. R1 and R2 can be evoked by innocuous stimuli, but only the R2 also by painful heat, suggesting that the R2 is mediated by wide dynamic range neurons (WDR) of the spinal trigeminal nucleus. Remote noxious stimuli suppress the activity in WDR neurons via activation of diffuse noxious inhibitory controls (DNIC), whereas low-threshold mechanoreceptive neurons (LTM) are unaffected. In order to characterize the trigeminal interneurons of R1 and R2 we investigated the modulation of the blink reflex by remote painful heat. The blink reflex was elicited in 11 healthy subjects by innocuous electrical pulse…
Differential association of polymorphisms in the TNFalpha region with psoriatic arthritis but not psoriasis.
2002
To investigate the potential association of tumour necrosis factor alpha (TNFalpha) microsatellite and promoter alleles with psoriatic arthritis (PsA).DNA from 89 white patients with PsA, 65 patients with psoriasis, and 99 healthy white controls was investigated for two TNFalpha promoter (-238 and -308) and three microsatellite polymorphisms (TNFa, c, and d). Patients had previously been studied by serology for HLA class I antigens and by sequence-specific polymerase chain reaction for DRB1* alleles. In addition, TNFalpha production of Ficoll separated peripheral blood mononuclear cells (PBMC) into culture supernatants after stimulation with lipopolysaccharide, alphaCD3 antibodies, phytohae…
Markers of T Lymphocyte Activation in HLA-B8, DR3 Positive Individuals
1990
Many autoimmune diseases are associated in Caucasians with HLA-B8 and/or HLA-DR3 antigens. There is evidence that bearers of these antigens may display significant changes in immune parameters when compared to individuals not having these antigens. Recently, increased numbers of blood activated T lymphocytes have been reported in the majority of these diseases. The increase in activated blood T lymphocytes is paradoxically characterized by an in vitro impairment of T cell activation. Particularly, an inadequate production of interleukins has been observed. We have studied blood levels of activated T cells in HLA-typed, healthy subjects. The results show that the percentage of activated T ce…
Isolated hevein-like domains, but not 31-kd endochitinases, are responsible for IgE-mediated in vitro and in vivo reactions in latex-fruit syndrome.
2005
Background Individuals with natural rubber latex allergy often have immediate reactions to plant-derived foods and fresh fruits, such as avocado and banana. IgE of these patients has been shown to bind endochitinases containing an N-terminal hevein-like domain (HLD). However, evidence on 31-kd endochitinase-induced reactions in vivo is lacking. Objective We sought to assess the clinical significance of 31-kd endochitinases and isolated HLDs in latex-fruit syndrome. Methods The 31-kd endochitinases and corresponding HLDs were purified or produced from avocado, banana, latex, and wheat germ. Skin prick test reactivities against purified proteins were examined in 15 patients with natural rubbe…
Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes
2012
One mechanism by which disease-associated DNA variation can alter disease risk is altering gene expression. However, linkage disequilibrium (LD) between variants, mostly single-nucleotide polymorphisms (SNPs), means it is not sufficient to show that a particular variant associates with both disease and expression, as there could be two distinct causal variants in LD. Here, we describe a formal statistical test of colocalization and apply it to type 1 diabetes (T1D)-associated regions identified mostly through genome-wide association studies and expression quantitative trait loci (eQTLs) discovered in a recently determined large monocyte expression data set from the Gutenberg Health Study (1…
No association of alcohol dependence with HOMER 1 and 2 genetic variants.
2010
Several lines of evidence indicate that alterations of the central cortico-accumbens glutamate pathway are involved in the development and maintenance of alcohol- and substance-use disorders. The HOMER protein family is encoded by 3 genes HOMER (1–3) which are components of the excitatory postsynaptic density complex and function to modulate synaptic activity by the regulation of glutamate signaling. HOMER 1 and 2 have been reported to contribute to chronic alcohol-induced long-term neurochemical changes in the endogenous reward system. Data from animal models suggest a potential role of the Homer protein family in the development of alcohol and substance use. The aim of this study is to as…
Genome-wide association data provide further support for an association between 5-HTTLPR and major depressive disorder.
2013
Abstract Background Dysfunctions of serotonergic neurotransmission are supposed to be involved in the pathogenesis of psychiatric disorders such as major depressive disorder (MDD). The concentration of serotonin (5-hydroxytryptamine, 5-HT) in the synaptic cleft is essentially regulated by the 5-HT transporter (5-HTT). A length polymorphism repeat in the 5-HTT promoter region, termed 5-HTTLPR, has been commonly investigated for an association with psychiatric disorders. Methods Genotyping of the 5-HTTLPR is time-consuming and technically challenging. Recently, a two-SNP haplotype was identified that tags the 5-HTTLPR at r 2 =0.775. This allows extraction of 5-HTTLPR genotype information from…
Association of Common Variants in NPPA and NPPB with Circulating Natriuretic Peptides and Blood Pressure
2009
We examined the association of common variants at the NPPA-NPPB locus with circulating concentrations of the natriuretic peptides, which have blood pressure-lowering properties. We genotyped SNPs at the NPPA-NPPB locus in 14,743 individuals of European ancestry, and identified associations of plasma atrial natriuretic peptide with rs5068 (P = 8 x 10(-70)), rs198358 (P = 8 x 10(-30)) and rs632793 (P = 2 x 10(-10)), and of plasma B-type natriuretic peptide with rs5068 (P = 3 x 10(-12)), rs198358 (P = 1 x 10(-25)) and rs632793 (P = 2 x 10(-68)). In 29,717 individuals, the alleles of rs5068 and rs198358 that showed association with increased circulating natriuretic peptide concentrations were a…