118 research outputs found

    Serous labyrinthitis as a manifestation of cat scratch disease: a case report

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    <p>Abstract</p> <p>Introduction</p> <p>Cat scratch disease is an infectious disease transmitted by young cats, in which the principal causative factor is <it>Bartonella henselae</it>. The typical course of cat scratch disease is usually benign and self-limited and requires only supportive therapy. However, cases lasting up to 2 years have been reported, and more serious complications may occur. Many manifestations of the disease have been reported by different medical disciplines.</p> <p>Case presentation</p> <p>A case of cat scratch disease in a 71-year-old Greek woman with an unusual clinical course is presented here. Serous otitis media was combined with rotational vertigo due to labyrinthitis. The invaded ear was ipsilateral to the inoculation site.</p> <p>Conclusion</p> <p>Cervicofacial lymphadenopathy has been demonstrated as the most common otolaryngologic manifestation of cat scratch disease. Manifestation in the middle and inner ear has, to the best of our knowledge, not been reported before. Our report presents a patient with cat scratch disease with clinical signs and symptoms in the middle and inner ear.</p

    Study of Transcriptional Effects in Cis at the IFIH1 Locus

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    Background: The Thr allele at the non-synonymous single-nucleotide polymorphism (nsSNP) Thr946Ala in the IFIH1 gene confers risk for Type 1 diabetes (T1D). The SNP is embedded in a 236 kb linkage disequilibrium (LD) block that includes four genes: IFIH1, GCA, FAP and KCNH7. The absence of common nsSNPs in the other genes makes the IFIH1 SNP the strongest functional candidate, but it could be merely a marker of association, due to LD with a variant regulating expression levels of IFIH1 or neighboring genes. Methodology/Principal Findings: We investigated the effect of the T1D-associated variation on mRNA transcript expression of these genes. Heterozygous mRNA from lymphoblastoid cell lines (LCLs), pancreas and thymus was examined by allelic expression imbalance, to detect effects in cis on mRNA expression. Using single-nucleotide primer extension, we found no difference between mRNA transcripts in 9 LCLs, 6 pancreas and 13 thymus samples, suggesting that GCA and FAP are not involved. On the other hand, KCNH7 was not expressed at a detectable level in all tissues examined. Moreover, the association of the Thr946Ala SNP with T1D is not due to modulation of IFIH1 expression in organs involved in the disease, pointing to the IFIH1 nsSNP as the causal variant. Conclusions/Significance: The mechanism of the association of the nsSNP with T1D remains to be determined, but does not involve mRNA modulation. It becomes necessary to study differential function of the IFIH1 protein alleles at Thr946Al

    A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci

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    Diabetes impacts approximately 200 million people worldwide, of whom approximately 10% are affected by type 1 diabetes (T1D). The application of genome-wide association studies (GWAS) has robustly revealed dozens of genetic contributors to the pathogenesis of T1D, with the most recent meta-analysis identifying in excess of 40 loci. To identify additional genetic loci for T1D susceptibility, we examined associations in the largest meta-analysis to date between the disease and ∼2.54 million SNPs in a combined cohort of 9,934 cases and 16,956 controls. Targeted follow-up of 53 SNPs in 1,120 affected trios uncovered three new loci associated with T1D that reached genome-wide significance. The most significantly associated SNP (rs539514, P = 5.66×10−11) resides in an intronic region of the LMO7 (LIM domain only 7) gene on 13q22. The second most significantly associated SNP (rs478222, P = 3.50×10−9) resides in an intronic region of the EFR3B (protein EFR3 homolog B) gene on 2p23; however, the region of linkage disequilibrium is approximately 800 kb and harbors additional multiple genes, including NCOA1, C2orf79, CENPO, ADCY3, DNAJC27, POMC, and DNMT3A. The third most significantly associated SNP (rs924043, P = 8.06×10−9) lies in an intergenic region on 6q27, where the region of association is approximately 900 kb and harbors multiple genes including WDR27, C6orf120, PHF10, TCTE3, C6orf208, LOC154449, DLL1, FAM120B, PSMB1, TBP, and PCD2. These latest associated regions add to the growing repertoire of gene networks predisposing to T1D

    New Insight on Human Type 1 Diabetes Biology: nPOD and nPOD-Transplantation

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    The Juvenile Diabetes Research Foundation (JDRF) Network for Pancreatic Organ Donors with Diabetes (JDRF nPOD) was established to obtain human pancreata and other tissues from organ donors with type 1 diabetes (T1D) in support of research focused on disease pathogenesis. Since 2007, nPOD has recovered tissues from over 100 T1D donors and distributed specimens to approximately 130 projects led by investigators worldwide. More recently, nPOD established a programmatic expansion that further links the transplantation world to nPOD, nPOD-Transplantation; this effort is pioneering novel approaches to extend the study of islet autoimmunity to the transplanted pancreas and to consent patients for postmortem organ donation directed towards diabetes research. Finally, nPOD actively fosters and coordinates collaborative research among nPOD investigators, with the formation of working groups and the application of team science approaches. Exciting findings are emerging from the collective work of nPOD investigators, which covers multiple aspects of islet autoimmunity and beta cell biology

    Genotype distribution of hepatitis C virus infection in Greece: Correlation with different risk factors and response to interferon therapy

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    The aim of this study was to investigate the prevalence of HCV genotypes among Greek patients with chronic hepatitis C and to assess the influence of genotypes and quasi-species populations on efficacy of interferon therapy. Genotypes were determined in 65 patients (18 patients after kidney transplantation, 16 with thalassemia and 31 with no known risk factor) with elevated ALT for more than 6 months and histologically proven chronic hepatitis, using the Inno-Lipa strip assay. The quasi-species were determined using the fluorescence single-strand conformational polymorphism method. Most patients were infected with genotype 3a, namely 61% of patients with kidney transplants (n = 18), 50% of patients with thalassemia (n = 16) and 48% of patients without known risk factors (n = 31). Other genotypes were found including coinfection with different genotypes. In all patients with mixed infection, genotype 3a was present. Thirty-six patients from the last two groups received interferon (3Mio U 3x week) for 1 year. Biochemical and/or virological and histological responses were found in 11/19 patients with genotype 3a (58%), 3/5 with mixed infection, 2/4 with genotype 1b, 2/5 with genotype 2a, 1/4 with genotype 1a and 1/1 with genotype 4. The virus found in non-responders with genotype 3a was genetically more heterogeneous than in responders. These data indicate that (1) the genotype 3a is prevalent in Greek patients (68% of all patients), (2) there is no significant difference regarding genotypes among patients with different risk factors and (3) although based on a small number of patients, the genotype 3a seems to respond better to interferon therapy. Finally, the number of quasi-species may be a factor predictive of response

    A Multi-objective approach to Subarrayed Linear Antenna Arrays Design

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    Abstract In this paper we present a multi-objective optimization approach to subarrayed linear antenna arrays design. We define this problem as a bi-objective one. We consider two objective functions for directivity maximization and sidelobe level minimization. Two popular Multi-Objective Evolutionary Algorithms (MOEAs), the Generalized Differential Evolution (GDE3) and the Nondominated Sorting Genetic Algorithm-II (NSGA-II), are employed in this study. GDE3 and NSGA-II are applied to the synthesis of uniform and nonuniform subarrayed linear arrays, providing an extensive set of solutions for each design case. Depending on the desired array characteristics, the designer can select the most suitable solution. The results of the proposed method are compared with those reported in the literature, indicating the advantages and applicability of the multi-objective approach
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