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  • 1
    Electronic Resource
    Electronic Resource
    Cloning of cDNA and the gene encoding human hepatocyte nuclear factor (HNF)-3β and mutation screening in Japanese subjects with maturity-onset diabetes of the young (2000)
    Springer
    Diabetologia 43 (2000), S. 121-124 
    Details
    ISSN: 1432-0428
    Keywords: Keywords HNF-cascade, gene expression, insulin secretion, mutation, genetics.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. Molecular defects of the genes for transcription factors, hepatocyte nuclear factor (HNF)-4α, HNF-1α, HNF-1β and insulin promoter factor-1 cause maturity-onset diabetes of the young (MODY1, 3, 5, and 4, respectively). This suggests the HNF-related transcription cascade is important in insulin secretion which is induced by glucose. These genes and the gene encoding glycolytic enzyme glucokinase (MODY2) are, however, responsible for only 15–20 % of cases of MODY in the Japanese. Searching for a novel form of MODY in this population, we cloned a new candidate gene encoding human HNF-3β, a winged helix transcription factor, which also belongs to the same HNF-transcription cascade.¶Methods. The cDNA clone for human HNF-3β was isolated from a liver cDNA library. The gene was also cloned from a genomic library and its organization and chromosomal localization were determined. We screened 68 Japanese subjects with MODY/early-onset diabetes for mutations in this gene.¶Results. Human HNF-3β is composed of 457 amino acids. The human gene, which was mapped to the segment 30 cR from SHGC-37 039 on chromosome 20 p by radiation hybrid mapping, spans approximately 4.5 kb and consists of three exons. Direct sequencing of the exons and flanking regions identified one missense mutation A328 V and seven polymorphisms, although the functional significance of the mutation in the pathogenesis of diabetes is not known.¶Conclusion/interpretation. The characterization of the structure of the HNF-3β gene and its mapping in the framework of markers will be helpful in genetic studies of the various forms of diabetes mellitus. [Diabetologia (2000) 43: 121–124]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050016
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular characterization of a 10-kDa buckwheat molecule reactive to allergic patients’ IgE (2004)
    Oxford, UK : Munksgaard International Publishers
    Allergy 59 (2004), S. 0 
    Details
    ISSN: 1398-9995
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background:  Using the sera from buckwheat (BW)-allergic patients, several putative causative molecules were reported. However, few molecules were determined on the molecular structure. We demonstrated in 2000 that the major allergen with 24 kDa (BW24KD) is a legumin-like storage protein.Objective:  The aim of this study was to isolate and characterize further a major allergen with 10 kDa by molecular cloning.Methods and results:  Buckwheat allergens were identified by immunoblotting analysis using sera from 14 allergic and two nonallergic individuals. We identified a protein with 10 kDa (BW10KD) that reacted with immunoglobulin E (IgE) more strongly than with IgG and IgA in 57% of the allergic patients but not with IgE in nonallergic individuals. Analyses were performed by N-terminal amino acid sequencing and molecular cloning. Physiological significance was assessed by an immunoblotting experiment showing that the reactivity of an allergic patient's serum IgE to BW10KD was competitively inhibited by natural BW extracts.Conclusion:  Molecular cloning experiments indicated that BW10KD as a BW allergen was a member of the 2S-albumin multigene family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1398-9995.2003.00412.x
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  • 3
    Electronic Resource
    Electronic Resource
    Selective insufficiency of IFN-γ secretion in patients with hyper-IgE syndrome (2003)
    Oxford, UK : Munksgaard International Publishers
    Allergy 58 (2003), S. 0 
    Details
    ISSN: 1398-9995
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background: Hyper-immunoglobulin E (IgE) syndrome is a complex immune deficiency characterized by chronic eczematous dermatitis, recurrent staphylococcal infections, pneumatoceles, reduced neutrophil chemotaxis, and variably impaired T cell function. Although decreased interferon-γ (IFN-γ) production in patients with hyper-IgE syndrome is pointed out and known as a cause of reduced neutrophil chemotaxis, precise mechanism of their inadequate production of IFN-γ remains unknown. To elucidate the pathogenesis of the defective production of IFN-γ in patients with hyper-IgE syndrome, we assessed the in vitro production and secretion of IFN-γ by peripheral blood mononuclear cells (PBMCs) from patients with hyper-IgE syndrome.Methods: Chemotaxis of neutrophils, mRNA levels of several cytokines, intracellular production and extracellular secretion of IFN-γ, interleukin-2 (IL-2), and IL-4 by PBMCs from three patients with hyper-IgE syndrome were determined.Results: The transcription of IFN-γ mRNA and the production of its protein molecules progressed normally. However, selective insufficiency in the secretion of IFN-γ molecules was found in patients with hyper-IgE syndrome.Confocal laser scanning microscopy clearly demonstrated the accumulation of IFN-γ in patients with hyper-IgE syndrome.Conclusion: We demonstrated that there was a selective insufficiency in the secretion of IFN-γ in patients with hyper-IgE syndrome. We hope that this fact would offer a new paradigm for understanding this disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1034/j.1398-9995.2003.00099.x
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  • 4
    Electronic Resource
    Electronic Resource
    Stevens–Johnson syndrome associated with azithromycin followed by transient reactivation of herpes simplex virus infection (2004)
    Oxford, UK : Munksgaard International Publishers
    Allergy 59 (2004), S. 0 
    Details
    ISSN: 1398-9995
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1398-9995.2003.00336.x
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  • 5
    Electronic Resource
    Electronic Resource
    Food-dependent exercise-induced anaphylaxis: influence of concurrent aspirin administration on skin testing and provocation (2002)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 146 (2002), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Background Provocation tests in patients with food-dependent exercise-induced anaphylaxis (FDEIA) are often negative, even after a sufficient quantity of the implicated food and exercise have been taken. Objectives To investigate the effect of aspirin in provocation tests and in skin prick testing (SPT) of patients with FDEIA. Gluten as a major allergen in wheat-dependent FDEIA was also investigated. Methods Provocation tests and SPT with suspected foods were performed in 12 patients with FDEIA. Provocation tests were performed with combinations of foods, exercise and aspirin. Detection of gluten-specific IgE was also performed by the CAP System FEIA radioallergosorbent test, SPT and a histamine release test. Results The SPT reaction was enhanced by pretreatment with oral aspirin in five of eight (62·5%) patients. Aspirin facilitated provocation in five of seven (71%) patients tested. Ingestion of wheat and aspirin without exercise provoked symptoms in two patients. Aspirin provoked symptoms even with a small amount of wheat and exercise in one patient. Only the combination of aspirin, wheat and exercise provoked anaphylaxis in one patient. Specific IgE, SPT and/or the histamine release test with gluten were positive in nine of 11 patients with wheat-dependent FDEIA. Conclusions Aspirin enhances symptoms of FDEIA, and prior ingestion of aspirin under controlled conditions can be used to confirm FDEIA. In practice, such patients should avoid aspirin ingestion. Gluten appears to be the major allergen in these patients with wheat-dependent FDEIA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.2002.04601.x
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  • 6
    Electronic Resource
    Electronic Resource
    Carbamazepine-induced hypersensitivity syndrome associated with transient hypogammaglobulinaemia and reactivation of human herpesvirus 6 infection demonstrated by real-time quantitative polymerase chain reaction (2003)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 149 (2003), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Drug-induced hypersensitivity syndrome (HS) is a rare but severe disease with multiorgan failure. Many different precipitating factors have been reported, but the pathophysiology of HS remains unknown. However, the association of the human herpesvirus (HHV) family, particularly of HHV-6, has recently been reported in patients with HS. We report a 14-year-old boy who was diagnosed as having carbamazepine-induced HS based on the clinical course, laboratory data and results of drug-induced lymphocyte stimulation tests. In addition, the reactivation of HHV-6 was demonstrated by real-time quantitative polymerase chain reaction and by significantly increased levels of the specific antibody in his paired sera. Furthermore, transient hypogammaglobulinaemia was detected in the early stage of the disease. In addition, serum levels of interferon-γ, interleukin (IL)-6, IL-5 and eosinophil cationic protein, which were increased on admission, decreased dramatically after steroid therapy. This is the first report of carbamazepine-induced HS associated with reactivation of HHV-6, transient hypogammaglobulinaemia, increased serum levels of inflammatory cytokines and activated eosinophils. This case might contribute to the understanding of the pathophysiology of HS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.2003.05368.x
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