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  • 1
    ISSN: 1432-0428
    Keywords: Glucagon-like peptide-1 receptor ; non-insulin-dependent diabetes mellitus ; maturity onset diabetes of the young ; polymerase chain reaction ; linkage analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Glucagon-like peptide-1 (GLP-1) is a hormone derived from the preproglucagon molecule that is secreted by intestinal L cells and stimulates insulin secretion from betacells. The GLP-1 receptor is a candidate gene for diabetes mellitus, as mutations may induce the impaired insulin response that is a characteristic feature of NIDDM. To study the relationship between the GLP-1 receptor gene and NIDDM, linkage of a microsatellite polymorphism flanking the GLP-1 receptor gene with diabetes was investigated in three Caucasian families with MODY and in the nuclear families of 12 NIDDM probands. A cumulative LOD score −8.50 excludes linkage in these MODY pedigrees. A LOD score of −1.24 in the NIDDM nuclear pedigrees makes linkage improbable. Mutations in or near the GLP-1 receptor gene are unlikely to be the major cause of the inherited predisposition to NIDDM in Caucasian pedigrees, but we cannot exclude a role for this locus in a polygenic model or a major role in some pedigrees.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0428
    Keywords: Key words Maturity-onset diabetes of the young ; glucokinase ; adenosine deaminase ; pituitary adenylate cyclase-activation polypeptide receptor ; hexokinase II ; glucagon-like peptide-1 receptor ; polymerase chain reaction ; linkage analysis.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Maturity-onset diabetes of the young (MODY) is a form of non-insulin-dependent diabetes mellitus characterised by an early age of onset and an autosomal dominant mode of inheritance. Only a proportion of cases are due to mutations in the glucokinase gene. We have studied five Caucasian MODY families, including the first MODY family to be described, with five candidate genes implicated in regulation of insulin secretion. The affected subjects showed more marked hyperglycaemia than that found in subjects with glucokinase mutations. We assessed polymorphic markers close to the genes for glucokinase, hexokinase II, adenosine deaminase, pituitary adenylate cyclase-activating polypeptide receptor, and glucagon-like peptide-1 receptor. Linkage analysis with diabetes gave cumulative log of the odds (LOD) scores of less than –3, implying that mutations in these genes are unlikely to provide a major genetic contribution to this form of MODY. [Diabetologia (1995) 38: 1055–1060]
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0428
    Keywords: Maturity-onset diabetes of the young ; glucokinase ; adenosine deaminase ; pituitary adenylate cyclase-activation polypeptide receptor ; hexokinase II ; glucagon-like peptide-1 receptor ; polymerase chain reaction ; linkage analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Maturity-onset diabetes of the young (MODY) is a form of non-insulin-dependent diabetes mellitus characterised by an early age of onset and an autosomal dominant mode of inheritance. Only a proportion of cases are due to mutations in the glucokinase gene. We have studied five Caucasian MODY families, including the first MODY family to be described, with five candidate genes implicated in regulation of insulin secretion. The affected subjects showed more marked hyperglycaemia than that found in subjects with glucokinase mutations. We assessed polymorphic markers close to the genes for glucokinase, hexokinase II, adenosine deaminase, pituitary adenylate cyclase-activating polypeptide receptor, and glucagon-like peptide-1 receptor. Linkage analysis with diabetes gave cumulative log of the odds (LOD) scores of less than -3, implying that mutations in these genes are unlikely to provide a major genetic contribution to this form of MODY.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-2277
    Keywords: Cytomegalovirus ; Pneumonitis ; Ganciclovir ; Renal transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Ganciclovir, also called DHPG, was administered intravenously to eight renal transplant recipients with life-threatening cytomegalovirus (CMV) pneumonitis. One patient died of pulmonary failure; a favorable clinical response was observed in the seven others. In one patient, CMV pneumonitis recurred but responded well to a second course of the drug. At no time was the immunosuppressive regimen completely stopped in the seven surviving patients. Six of them maintained a good renal function 1–11 months after treatment with ganciclovir. No toxic effect was detected during therapy. We conclude that ganciclovir appears to be a promising and effective treatment for CMV pneumonitis after renal transplantation.
    Type of Medium: Electronic Resource
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