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| 2. |
- Frayling, Timothy M., et al.
(författare)
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A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity.
- 2003
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Ingår i: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 52:3, s. 872-881
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Tidskriftsartikel (refereegranskat)abstract
- Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder characterized by non–insulin-dependent diabetes, an early onset and autosomal dominant inheritance. Mutations in six genes have been shown to cause MODY. Approximately 15–20% of families fitting MODY criteria do not have mutations in any of the known genes. These families provide a rich resource for the identification of new MODY genes. This will potentially enable further dissection of clinical heterogeneity and bring new insights into mechanisms of β-cell dysfunction. To facilitate the identification of novel MODY loci, we combined the results from three genome-wide scans on a total of 23 families fitting MODY criteria. We used both a strict parametric model of inheritance with heterogeneity and a model-free analysis. We did not identify any single novel locus but provided putative evidence for linkage to chromosomes 6 (nonparametric linkage [NPL]score 2.12 at 71 cM) and 10 (NPL score 1.88 at 169–175 cM), and to chromosomes 3 (heterogeneity LOD [HLOD] score 1.27 at 124 cM) and 5 (HLOD score 1.22 at 175 cM) in 14 more strictly defined families. Our results provide evidence for further heterogeneity in MODY.
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| 3. |
- Apfalter, Petra, et al.
(författare)
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Multicenter comparison trial of DNA extraction methods and PCR assays for detection of Chlamydia pneumoniae in endarterectomy specimens
- 2001
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Ingår i: Journal of Clinical Microbiology. - 1098-660X. ; 39:2, s. 519-524
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Tidskriftsartikel (refereegranskat)abstract
- The reported rate of detection of Chlamydia pneumoniae DNA within atherosclerotic lesions by PCR varies between 0 and 100%. In this study, identical sets of coded experimental atheroma samples (n = 15) and spiked controls (n = 5) were analyzed by 16 test methods in nine centers by means of PCR. The positive controls were correctly identified to levels of 1, 0.1, and 0.01 inclusion bodies of C. pneumoniae/ml of tissue homogenate by 16 (100%), 11 (69%), and 3 (19%) of the test methods, respectively. Three out of 16 negative controls (19%) were rated positive. Positivity rates for atheroma samples varied between 0 and 60% for the different test methods, with the maximum concordant result for positivity being only 25% for one carotid artery sample. There was no consistent pattern of positive results among the various laboratories, and there was no correlation between the detection rates and the sensitivity of the assay used.
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| 4. |
- Aquilante, Francesco, et al.
(författare)
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Computation of the acetone ultraviolet spectrum in gas phase and in aqueous solution by a mixed discrete/continuum model.
- 2003
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Ingår i: Molecular Physics. - : Informa UK Limited. - 0026-8976 .- 1362-3028. ; 101:13, s. 1945-1953
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Tidskriftsartikel (refereegranskat)abstract
- The ultraviolet spectrum of acetone in vacuum and in aqueous solution has been computed by different quantum mechanical methods coupled to the polarizable continuum model (PCM) for describing bulk solvent effects. The results in vacuo show that the time-dependent density functional theory (TDDFT) approach using the PBE0 functional reproduces quite well the result obtained at the CASPT2 level. Supermolecule computations confirm that water molecules belonging to the first shell of polar groups ( here the carbonyl oxygen) must be explicitly included in the quantum mechanical treatment, whereas the effect of other solvent molecules ( which is far from being negligible) can be reliably described by the PCM. Moreover, statistical averaging effects have been taken into account by performing canonical molecular dynamics (MD) simulations followed by TDDFT quantum mechanical computations on representative clusters of increasing dimensions immersed in a polarizable continuum. The results show that the combined MD/DFT/PCM approach is reliable and effective, although the performances of the force field used in the MD simulations must be further investigated.
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| 5. |
- Bergman, Marie-Louise, et al.
(författare)
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CTLA-4-/- mice display T cell-apoptosis resistance resembling that ascribed to autoimmune-prone non-obese diabetic (NOD) mice
- 2001
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Ingår i: Journal of Autoimmunity. - : Elsevier. - 0896-8411 .- 1095-9157. ; 16:2, s. 105-113
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Tidskriftsartikel (refereegranskat)abstract
- The genes conferring susceptibility to autoimmune (insulin-dependent) diabetes mellitus (IDDM) are, in most cases, not defined. Among the loci so far identified as associated with murine IDDM (Idd1-19), only the nature of Idd1 has been assessed. Here we show that thymocytes and peripheral lymphocytes of the non-obese diabetic (NOD) mouse are relatively resistant to apoptosis induced by gamma-irradiation. By linkage analysis of F2 progeny mice, we map this trait to a locus on chromosome 1 containing the Idd5 diabetes susceptibility region. By the use of congenic mice, we confirm the linkage data and map this locus to a 6 cM region on proximal chromosome 1. Ctla4, being localized in this chromosomal region and mediating crucial functions in T cell biology, is a logical candidate gene in the Idd5 susceptibility region. In line with this, we demonstrate that T cells from Ctla4(-/-)deficient mice show a similar resistance to gamma-irradiation-induced apoptosis as observed in the NOD mice. This reinforces the notion that CTLA-4 contributes to the pathogenesis of autoimmune diabetes.
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| 6. |
- Farouk, Salah E, et al.
(författare)
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Gamma delta T cells inhibit in vitro growth of the asexual blood stages of Plasmodium falciparum by a granule exocytosis-dependent cytotoxic pathway that requires granulysin.
- 2004
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Ingår i: European Journal of Immunology. - : Wiley. - 0014-2980 .- 1521-4141. ; 34:8, s. 2248-56
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Tidskriftsartikel (refereegranskat)abstract
- Several reports have stated the ability of gamma delta T cells to inhibit the growth of the asexual blood stages of Plasmodium falciparum in vitro. However, little information is available about the mechanisms involved. In this study, in vitro systems were used to study the role of the granule exocytosis-dependent cytotoxic pathway in the growth inhibition/killing of P. falciparum by human gamma delta T cells. Our results show that the inhibition requires cell-to-cell contact and that gamma delta T cells kill the asexual blood stages of P. falciparum through a granule exocytosis-dependent cytotoxic pathway after recognition of certain ligands or molecules expressed on the surface of infected erythrocytes or merozoites. The in vitro inhibitory capacity of gamma delta T cells was strongly correlated with the expression of granulysin in the cytotoxic granules, while non-inhibitory CD4+ and CD8+ T cells expressed very little, implicating a role for granulysin in parasite inhibition. This was further suggested by the addition of neutralizing anti-granulysin antibodies, which abrogated the parasite inhibitory capacity of the gamma delta T cells. Taken together, our results suggest that the capacity of gamma delta T cells for inhibition/killing of P. falciparum is based on the granule exocytosis-dependent cytotoxic pathway and that the presence of granulysin is essential to maintain efficient killing.
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| 9. |
- Schafer, Werner, et al.
(författare)
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Good urodynamic practices: uroflowmetry, filling cystometry, and pressure-flow studies
- 2002
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Ingår i: Neurourology and Urodynamics. - : Wiley. - 0733-2467. ; 21:3, s. 261-274
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Tidskriftsartikel (refereegranskat)abstract
- This is the first report of the International Continence Society (ICS) on the development of comprehensive guidelines for Good Urodynamic Practice for the measurement, quality control, and documentation of urodynamic investigations in both clinical and research environments. This report focuses on the most common urodynamics examinations; uroflowmetry, pressure recording during filling cystometry, and combined pressure-flow studies. The basic aspects of good urodynamic practice are discussed and a strategy for urodynamic measurement, equipment set-up and configuration, signal testing, plausibility controls, pattern recognition, and artifact correction are proposed. The problems of data analysis are mentioned only when they are relevant in the judgment of data quality. In general, recommendations are made for one specific technique. This does not imply that this technique is the only one possible. Rather, it means that this technique is well-established, and gives good results when used with the suggested standards of good urodynamic practice.
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