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11.
T Barisani-Asenbauer SM Maca L Mejdoubi W Emminger K Machold H Auer 《Orphanet journal of rare diseases》2012,7(1):57
ABSTRACT: BACKGROUND: Uveitis is an autoimmune disease of the eye that refers to any of a number of intraocular inflammatory conditions. Because it is a rare disease, uveitis is often overlooked, and the possible associations between uveitis and extra-ocular disease manifestations are not well known. The aim of this study was to characterise uveitis in a large sample of patients and to evaluate the relationship between uveitis and systemic diseases. METHODS: The present study is a cross-sectional study of a cohort of patients with uveitis. Records from consecutive uveitis patients who were seen by the Uveitis Service in the Department of Ophthalmology at the Medical University of Vienna between 1995 and 2009 were selected from the clinical databases. The cases were classified according to the Standardization of Uveitis Nomenclature Study Group criteria for uveitis. RESULTS: Data were available for 2619 patients, of whom 59.9% suffered from anterior, 14.8% from intermediate, 18.3% from posterior and 7.0% from panuveitis. 37.2% of all cases showed an association between uveitis and extra-organ diseases; diseases with primarily arthritic manifestations were seen in 10.1% of all cases, non-infectious systemic diseases (i.e., Behcet's disease, sarcoidosis or multiple sclerosis) in 8.4% and infectious uveitis in 18.7%. 49.4% of subjects suffering from anterior uveitis tested positively for the HLA-B27 antigen. In posterior uveitis cases 29% were caused by ocular toxoplasmosis and 17.7% by multifocal choroiditis. CONCLUSION: Ophthalmologists, rheumatologists, infectiologists, neurologists and general practitioners should be familiar with the differential diagnosis of uveitis. A better interdisciplinary approach could help in tailoring of the work-up, earlier diagnosis of co-existing diseases and management of uveitis patients. 相似文献
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Liquid‐Like Ionic Conduction in Solid Lithium and Sodium Monocarba‐closo‐Decaborates Near or at Room Temperature
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Jill A. Hollenbach Martha B. Ladner Koy Saeteurn Kent D. Taylor Ling Mei Talin Haritunians Dermot P. B. McGovern Henry A. Erlich Jerome I. Rotter Elizabeth A. Trachtenberg 《Immunogenetics》2009,61(10):663-671
In the present study, we investigated the relationship between the KIR loci and the genes encoding their HLA ligands and genetic
susceptibility to Crohn’s disease (CD). Analyses of the interactions between KIR3DL1, KIR2DL1, KIR2DL2, and KIR2DL3 with their
respective HLA ligands indicate that there is a protective effect for KIR2DL2 in the absence of its HLA ligand C1. Given that
KIR2DL2 and KIR2DL3 segregate as alleles, we compared their genotypic distributions to expectations under Hardy–Weinberg Equilibrium
(HWE) with regard to the HLA ligand C1 status. While all the genotypic distributions conform to expectations under HWE in
controls, in C2 ligand homozygous cases there is significant deviation from HWE, with a reduction of KIR2DL2, KIR2DL3 heterozygotes.
KIR2DL2, KIR2DL3 heterozygosity is the only genotypic combination that confers protection from CD. In addition to the protective
effect (OR = 0.44, CI = 0.22–0.87; p = 0.018) observed in C2 ligand homozygotes, the KIR2DL2, KIR2DL3 genotype is predisposing (OR = 1.34, CI = 1.03–4.53; p = 0.031) in the presence of C1 ligand. A test for trend of HLA class I C ligand group genotypes with KIR2DL2, KIR2DL3 heterozygosity
in cases and controls indicates that C1, C2 ligand group heterozygotes have an intermediate effect on predisposition. These
results show for the first time that disease susceptibility may be related to heterozygosity at a specific KIR locus, and
that HLA ligand genotype influences the relative effect of the KIR genotype. 相似文献
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Protein dysregulation in mouse hippocampus polytransgenic for chromosome 21 structures in the Down Syndrome Critical Region 总被引:2,自引:0,他引:2
Mice polytransgenic for chromosome 21 genes DSCR3, 5, 6, 9, and TTC3 within the Down Syndrome Critical Region-1 represent an animal model for Down Syndrome (DS). In a proteomic approach, we show a series of altered hippocampal protein levels that may be caused by overexpression of at least one of the five chromosome 21 genes and that fit fear-conditioned memory defects and were observed to be dysregulated in human fetal DS. 相似文献
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Hari K. Somineni Sini Nagpal Suresh Venkateswaran David J. Cutler David T. Okou Talin Haritunians Claire L. Simpson Ferdouse Begum Lisa W. Datta Antonio J. Quiros Jenifer Seminerio Emebet Mengesha Jonathan S. Alexander Robert N. Baldassano Sharon Dudley-Brown Raymond K. Cross Themistocles Dassopoulos Lee A. Denson Subra Kugathasan 《American journal of human genetics》2021,108(3):431-445
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Talin Barisani-Asenbauer Aleksandra Inic-Kanada Sandra Belij Emilija Marinkovic Ivana Stojicevic Jacqueline Montanaro Elisabeth Stein Nora Bintner Marijana Stojanovic 《PloS one》2013,8(4)
Background
In a quest for a needle-free vaccine administration strategy, we evaluated the ocular conjunctiva as an alternative mucosal immunization route by profiling and comparing the local and systemic immune responses to the subcutaneous or conjunctival administration of tetanus toxoid (TTd), a model antigen.Materials and methods
BALB/c and C57BL/6 mice were immunized either subcutaneously with TTd alone or via the conjunctiva with TTd alone, TTd mixed with 2% glycerol or TTd with merthiolate-inactivated whole-cell B. pertussis (wBP) as adjuvants. Mice were immunized on days 0, 7 and 14 via both routes, and an evaluation of the local and systemic immune responses was performed two weeks after the last immunization. Four weeks after the last immunization, the mice were challenged with a lethal dose (2 × LD50) of tetanus toxin.Results
The conjunctival application of TTd in BALB/c mice induced TTd-specific secretory IgA production and skewed the TTd-specific immune response toward a Th1/Th17 profile, as determined by the stimulation of IFNγ and IL-17A secretion and/or the concurrent pronounced reduction of IL-4 secretion, irrespective of the adjuvant. In conjunctivaly immunized C57BL/6 mice, only TTd administered with wBP promoted the establishment of a mixed Th1/Th17 TTd-specific immune response, whereas TTd alone or TTd in conjunction with glycerol initiated a dominant Th1 response against TTd. Immunization via the conjunctiva with TTd plus wBP adjuvant resulted in a 33% survival rate of challenged mice compared to a 0% survival rate in non-immunized animals (p<0.05).Conclusion
Conjunctival immunization with TTd alone or with various adjuvants induced TTd-specific local and systemic immune responses, predominantly of the Th1 type. The strongest immune responses developed in mice that received TTd together with wBP, which implies that this alternative route might tailor the immune response to fight intracellular bacteria or viruses more effectively. 相似文献18.
Talin Barisani-Asenbauer Saskia M Maca Lamiss Mejdoubi Wolfgang Emminger Klaus Machold Herbert Auer 《Orphanet journal of rare diseases》2012,7(1):1-7
Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological changes, and orthopaedic complications being the predominant symptoms. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: Type 1 (non-neuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic). Nearly 300 mutations have been identified in Gaucher patients, with the majority being missense mutations. Though studies of genotype-to-phenotype correlations have revealed significant heterogeneity, some consistent patterns have emerged to inform prognostic and therapeutic decisions. Recent research has highlighted a potential role for Gaucher disease in other comorbidities such as cancer and Parkinson's Disease. In this review, we will examine the potential relationship between Gaucher disease and the synucleinopathies, a group of neurodegenerative disorders characterized by the development of intracellular aggregates of ??-synuclein. Possible mechanisms of interaction will be discussed. 相似文献
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RING finger protein 152 (RNF152) is a novel RING finger protein and has not been well characterized. We report here that RNF152 is a canonical RING finger protein and has E3 ligase activity. It is polyubiqitinated partly through Lys-48-linked ubiquitin chains in vivo and this phenomenon is dependent on its RING finger domain and transmembrane domain. RNF152 is localized in lysosomes and co-localized with LAMP3, a lysosome marker. Moreover, over-expression of RNF152 in Hela cells induces apoptosis. These results suggest that RNF152 is a lysosome localized E3 ligase with pro-apoptotic activities. It is the first E3 ligase identified so far that is involved in lysosome-related apoptosis. 相似文献
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Paz-Filho GJ Babikian T Asarnow R Delibasi T Esposito K Erol HK Wong ML Licinio J 《PloS one》2008,3(8):e3098