Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11 (1985)
    Springer
    Diabetologia 28 (1985), S. 218-222 
    Details
    ISSN: 1432-0428
    Keywords: DNA inserts ; insulin gene ; Type 1 diabetes ; HLA antigens ; prevalence ; pedigree studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A polymorphic DNA sequence in the 5′-flanking region of the human insulin gene was studied in relation to Type 1 (insulin-dependent) diabetes. In 141 Caucasoid subjects analysed by Southern blot hybridisation techniques, two major DNA insertions were observed: a Class 1 allele or a Class 3 allele. The Class 2 allele was not observed in this group of subjects. Genotype frequencies in a control population (n = 88) were: homozygous 1/1, 42%; heterozygous 1/3, 50%; and homozygous 3/3, 8%. Corresponding genotype frequencies in 53 Type 1 diabetic patients were 79%, 21% and 0%, respectively (p〈0.0005 from χ2 test). This confirms prevalence data reported by Bell et al. [16]. There appeared to be no coinheritance with HLA-DR3/DR4 related antigens, nor with autoimmune features. Analysis of 17 Type 1 diabetic pedigrees including 34 diabetic and 69 non-diabetic subjects did not demonstrate genetic linkage of these DNA inserts with diabetes, using an autosomal recessive, single locus model of inheritance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00282236
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Persistent reduction of CD4/CD8 lymphocyte ratio amd cell activation before the onset of Type 1 (insulin-dependent) diabetes (1989)
    Springer
    Diabetologia 32 (1989), S. 322-325 
    Details
    ISSN: 1432-0428
    Keywords: Lymphocyte subsets ; pre-Type 1 (insulin-dependent) ; diabetes ; lymphocyte activations ; genetic susceptibility
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Over a period of 5 years, lymphocyte subpopulations and their markers of activation were studied prospectively in 56 first degree relatives of Type 1 (insulin-dependent) diabetic probands. Lymphocytes were phenotyped using a panel of monoclonal antibodies which recognise CD3, CD4, CD8 lymphocytes, K/NK cells, HLA Class II products and IL-2 receptors (IL-2r). Twenty-six subjects were negative for islet cell antibody (ICA), 18 had complement fixing ICA (CF-ICA) and 12 only conventional ICA (ICA-IgG). The total number of observations (blood samples collected) was 386. Overall, changes in T cell data were observed in the three groups of first degree relatives compared to 70 normal subjects without a family history of diabetes. Six individuals developed Type 1 diabetes in the course of the study. They all possessed CF-ICA and five out of six showed a persistent reduction (〈1.5) of the CD4/CD8 lymphocyte ratio before the clinical onset of the disease. Activated lymphocytes were found on two occasions in two of these subjects. We conclude that imbalance of lymphocyte immunoregulatory subsets is present before the onset of Type 1 diabetes in susceptible individuals; the persistence of a reduced CD4/CD8 lymphocyte ratio may reflect the ongoing process leading to B-cell destruction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00265550
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    A DR3-related DXα gene polymorphism strongly associates with insulin-dependent diabetes mellitus (1986)
    Springer
    Immunogenetics 23 (1986), S. 47-51 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract HLA-DQα and HLA-DXα gene polymorphisms were analyzed by Southern blot techniques in 78 Caucasoid insulin-dependent diabetes mellitus (IDDM) subjects and 55 control subjects. Five restriction fragment length polymorphisms of the HLA-DQ α gene correlated with HLA-DR typing. Two allelic DX α-related gene fragments, of 2.1 kb (U) and 1.9 kb (L) in size were identified. Genotype frequencies in the IDDM group for UU, UL, and LL were 54%, 38.5%, and 7.5%, respectively, whereas the corresponding frequencies in the control group were 24%,40%, and 36% (P 〈 0.00005 for differences in genotype frequencies). The U allele was associated particularly with IDDM patients who were DR3, with healthy controls who were DR3, as well as with IDDM patients who were not DR3. Thus, if this DX α U allele is not the DR3-associated IDDM susceptibility gene, it is the closest marker hitherto studied.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00376521
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Phenylketonuria: treatment in adolescence and adult life (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S93 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Adult ; dietary treatment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In our clinic the decision on whether to continue with dietary treatment of phenylketonuria or not is left to each adolescent and adult patient after the advantages and disadvantages, as discussed in this paper, of continuing diet have been presented to them. As a result 61 of 132 patients have stopped diet or declined to restart and only 4 of them have phenylalanine values below 1000 μmol/l. Seventy-one patients have remained on diet or started again with phenylalanine values below 1000 μmol/l in 58 of them. This series of 132 excludes women who returned to diet to conceive.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014261
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Insulin autoantibodies in the pre-diabetic period: Correlation with islet cell antibodies and development of diabetes (1986)
    Springer
    Diabetologia 29 (1986), S. 339-342 
    Details
    ISSN: 1432-0428
    Keywords: Insulin autoantibodies ; pathogenesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary IgG and IgM class insulin autoantibodies were measured by an enzyme-linked immunosorbent assay in sera from members of the Barts-Windsor-Middlesex prospective family study for Type 1 (insulin-dependent) diabetes. One hundred and twelve individuals from 28 families were selected for study on the basis of a clearly defined islet cell antibody status. IgG insulin autoantibodies were found to be significantly associated with islet cell antibody positive (n=30) versus islet cell antibody negative (n= 57) first degree family relatives (p=0.002), with increased significance (p=0.0003) if complement-fixing (CF)-islet cell antibody individuals (n=20) only were considered. In addition, a significant association of IgG insulin autoantibodies with subsequent development of diabetes was observed within the CF-islet cell antibody positive group (p〈0.0003). No such associations were found for IgM insulin autoantibodies, but a higher prevalence of these autoantibodies was observed in islet cell antibody negative first degree relatives (n=57) compared with a control group of 73 Blood Bank donors (p=0.00007), and they were significantly associated with siblings (n=48) rather than parents (n=39), (p=0.001). We conclude that the presence of IgG insulin autoantibodies and CF-islet cell antibodies confer more risk for future development of diabetes than the presence of either marker alone.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00452073
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Blood pressure in children, adolescents and young adults with Type 1 (insulin-dependent) diabetes (1986)
    Springer
    Diabetologia 29 (1986), S. 275-281 
    Details
    ISSN: 1432-0428
    Keywords: Blood pressure ; Type 1 (insulin-dependent) diabetes ; nephropathy ; albumin excretion ; hereditary factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Blood pressure has been measured by a single observer using a standardised technique in 163 Type 1 (insulin-dependent) diabetic patients aged 4 to 32 years, 232 of their non-diabetic siblings in the same age range and in 292 of their natural parents. Results for each sex were examined separately by analysis of variance. Systolic pressures were not significantly different overall nor in any single 4-year age band. In contrast, phase IV diastolic pressure was slightly but significantly higher in the diabetic males than in their sibling group overall (increment= +2.8 mmHg; p〈0.03), a difference also shown individually within the 16–20 year age band (81.3 versus 76.5 mmHg, p〈0.025). There were no significant differences in diastolic pressure between the female groups, and no effect of duration of diabetes on blood pressure was shown in either sex. Eighteen of 97 male diabetic patients (19%) had mean blood pressures above the 90th centile for age, derived from the sibling data, compared with 12 of 137 siblings (9%, p=0.05). The higher blood pressures among the diabetic males could not be explained solely by early nephropathy; familial factors appeared to be important in the determination of elevated blood pressure in this group as well as in the siblings. Alone, these small differences in blood pressure are unlikely to make a major contribution to the incidence of diabetic vascular disease, but the isolated increase in diastolic pressure may indicate altered vascular regulation in Type 1 diabetes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00452062
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 7
    Electronic Resource
    Electronic Resource
    Between and within subject variation of the first phase insulin response to intravenous glucose (1988)
    Springer
    Diabetologia 31 (1988), S. 123-125 
    Details
    ISSN: 1432-0428
    Keywords: Variability ; insulin ; glucose
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Eight normal subjects underwent two intravenous glucose tolerance tests to determine the between and within subject variation of the first phase insulin response. Variability was represented by the coefficient of variation. The between subject variation for the incremental 0–10 min insulin area was 58%, and the within subject variation was 22% (median value), range 3–55%. The variation of the first phase response expressed in four different ways was compared. The total and incremental (above fasting levels) 0–10 min areas provided less variable results (variation 52 and 58%) than the 1+3 min insulin levels (variation 72%) or mean of the incremental 3–5 min insulin levels (variation 66%). The ratio of the incremental 0–10 min insulin to glucose areas was as variable (variation 53%) as the insulin responses alone. The variability of insulin responses to intravenous glucose severely limits their value as early predictors of B-cell failure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00395560
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 8
    Electronic Resource
    Electronic Resource
    Primary hyperoxaluria type 1: Diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT) (1997)
    Springer
    Journal of inherited metabolic disease 20 (1997), S. 689-696 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of glyoxylate metabolism caused by deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). The disease shows considerable phenotypic, enzymatic and genetic heterogeneity. To date, 7 polymorphisms and 11 point mutations have been described in the gene encoding AGT. We report on the prevalence of these polymorphisms and mutations in 79 patients with PH1 with the aim of assessing their diagnostic relevance. A strong association of the C154T, intron 1 insertion and C386T polymorphisms is confirmed and this linkage extends to include the type 1 variant of a polymorphic tandem repeat in intron 4. Only 64 of 158 (40%) PH1 alleles have one of the defined mutations, with the G630A mutation accounting for 39 of these and T853C for 14. Overall only 20 (25%) of the patients studied had the genetic basis of their disease fully explained: 7 were homozygous for the G630A mutation, 5 were homozygous for the T853C mutation, 1 was homozygous for the C819T mutation, and 7 had two different mutations identified and were presumed to be compound heterozygotes. Only the two more frequent G630A and T853C mutations are of general diagnostic relevance for mutation screening. It seems likely that there are a significant number of other mutations, perhaps family-specific, still to be described. There was no apparent difference in the types of mutations in patients presenting in the first year of life (36%), suggesting that other factors, such as periods of dehydration or urinary tract infections, might contribute more to the clinical manifestation than genotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005326510239
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...