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  • 1
    Electronic Resource
    Electronic Resource
    The role of aldose reductase gene in the susceptibility to diabetic nephropathy in Type II (non-insulin-dependent) diabetes mellitus (Short Communication) (1999)
    Springer
    Diabetologia 42 (1999), S. 94-97 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Diabetic nephropathy ; genetic susceptibility ; aldose reductase ; Type II diabetes mellitus.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The dinucleotide repeat polymorphism (5 ′-ALR2) in the promoter region of the aldose reductase gene on chromosome 7q35 has been implicated in the development of diabetic nephropathy in Type I (insulin-dependent) diabetes mellitus, and markers flanking the aldose reductase locus have given evidence suggestive of a linkage between diabetic nephropathy and Type II (non-insulin-dependent) diabetes mellitus in Pima Indians. To examine whether the 5 ′-ALR2 polymorphism in the aldose reductase gene is involved in the development of diabetic nephropathy in Caucasians with Type II diabetes, we carried out a large association study. Patients with Type II diabetes from one outpatient clinic were screened for diabetic nephropathy and divided into three groups according to the degree of this disease: 179 patients with normoalbuminuria, 225 patients with microalbuminuria and 70 patients with proteinuria. Patients with normoalbuminuria were included in the study only if they had had Type II diabetes for 10 or more years. DNA from all patients was genotyped for the 5 ′-ALR2 polymorphism using a previously established polymerase chain reaction protocol. The frequency of the putative risk allele Z-2 was 34.6 %, 34.2 % and 33.6 % in the normoalbuminuria, microalbuminuria and proteinuria groups, respectively. Similarly no difference among groups was found for the frequency of the putative protective allele Z + 2. In conclusion, the results of our association study in Caucasian patients with Type II diabetes do not support the hypothesis that the 5 ′-ALR2 polymorphism in the aldose reductase gene contributes to susceptibility to diabetic nephropathy. Diabetologia (1999) 42: 94–97
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250051119
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  • 2
    Electronic Resource
    Electronic Resource
    Activity and expression of the Na+/H+ exchanger in human endothelial cells cultured in high glucose (1995)
    Springer
    Diabetologia 38 (1995), S. 785-791 
    Details
    ISSN: 1432-0428
    Keywords: Key words Na+/H+ exchanger ; endothelial cells ; cell replication ; fibronectin ; diabetic nephropathy.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Establishing whether high ambient glucose affects the plasma membrane Na+/H+ exchanger is relevant to understanding the adverse effects of high glucose on cell replication and the mechanisms of the increased exchanger activity encountered in diabetic patients with nephropathy. In 8 primary and 15 first-passage isolates of human endothelial cells cultured in 30 mmol/l glucose for 8.7 ± 2.3 and 15.8 ± 2.3 days, respectively, we determined Na+/H+ exchanger activity and mRNA levels. Activity was determined by measuring 22Na+ influx in the presence or absence of dimethylamiloride (DMA) after intracellular acidification. We also measured fibronectin mRNA because fibronectin provides signals for cell replication through the Na+/H+ antiporter. Control cells grown in 5 mmol/l glucose showed at morphologic confluency a total Na+ influx (in nmol · mg protein–1· min–1) of 10.1 ± 3.2 in primary and 11.7 ± 2.2 in first subculture, which was reduced to 5.3 ± 0.3 in the presence of DMA. Paired cultures exposed to 30 mmol/l glucose and exhibiting pHi and cell densities identical to controls showed in both primary and first subculture a reduction in total Na+ influx (Δ = –0.98 ± 0.93 nmol · mg protein–1· min–1 p 〈 0.005) whereas DMA-resistant Na+ influx was identical to that of control. Neither chronic hypertonicity nor acute exposure to high glucose mimicked the effects of chronic high glucose. The level of the Na+/H+ exchanger isoform 1 (NHE-1) mRNA was unchanged by high glucose whereas fibronectin mRNA levels were increased 1.5-fold. These studies indicate that in endothelial cells exposed to elevated ambient glucose the regulation of the Na+/H+ exchanger is altered at the post-transcriptional level; decreased activity of the antiporter is concomitant with fibronectin overexpression and may contribute to the decreased replication caused by high glucose. [Diabetologia (1995) 38: 785–791]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050353
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  • 3
    Electronic Resource
    Electronic Resource
    Synergistic effect of angiotensin II type 1 receptor genotype and poor glycaemic control on risk of nephropathy in IDDM (1997)
    Springer
    Diabetologia 40 (1997), S. 1293-1299 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Insulin-dependent diabetes mellitus ; diabetic nephropathy ; angiotensin II receptor ; DNA polymorphisms ; genetics.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We investigated the contribution of polymorphisms in the angiotensin II type 1 receptor gene (AGTR1) to renal complications in an inception cohort of 152 insulin-dependent diabetic (IDDM) patients examined 15–21 years after diabetes onset. This nested case-control study included 79 normoalbuminuric control subjects and 73 cases with evidence of nephropathy ranging from microalbuminuria to overt proteinuria. Subjects were genotyped for two AGTR1 polymorphisms (T573→C and A1166→C), and an adjacent CA repeat microsatellite. Allele C1166 and the 140 bp allele of the microsatellite were more frequent among nephropathy cases than normoalbuminuric control subjects (0.322 vs 0.247, and 0.618 vs 0.521, respectively), but these differences were not statistically significant. Although not significant by themselves, the AGTR1 polymorphisms contributed significantly to the risk of diabetic nephropathy when accompanied by poor glycaemic control. Among patients with frequent severe hyperglycaemia during the first decade of diabetes, the relative risk of nephropathy among allele C1166 carriers was 12.1 (95 % CI: 3.7–39.8), whereas it was only 1.4 (95 % CI: 0.6–3.5) among allele A1166 homozygotes. The difference between relative risks was highly significant (χ 2 = 8.25, p = 0.004 with 1 df). A similar pattern of higher risk of microalbuminuria, specifically among those carriers of allele C1166 who had poor glycaemic control was also found in an independent study of a cross-sectional sample of 551 IDDM individuals, although the effect was smaller in magnitude. We conclude that DNA sequence differences in the AGTR1 gene may modify the noxious effects of hyperglycaemia on the kidney. Allele C1166 carriers might especially benefit from nephropathy prevention programmes. [Diabetologia (1997) 40: 1293–1299]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050823
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  • 4
    Electronic Resource
    Electronic Resource
    Diabetes susceptibility at IDDM2 cannot be positively mapped to the VNTR locus of the insulin gene (1996)
    Springer
    Diabetologia 39 (1996), S. 594-599 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Insulin-dependent diabetes mellitus ; insulin gene ; tyrosine hydroxylase gene ; VNTR ; linkage disequilibrium.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary An inconsistency has come to light between the conclusion of Lucassen et al. that IDDM2 (11p15.5) must lie within a 4.1 kilobase (kb) segment at the insulin (INS) locus and their own data showing statistically significant associations between insulin-dependent diabetes mellitus (IDDM) and markers beyond the boundaries of that segment. We present data from an independent study of 201 IDDM patients and 107 non-diabetic control subjects that also show significant association with a marker 5 ′ of the INS locus. Patients and control subjects were genotyped at INS/ + 1140 A/C (a surrogate for the variable number tandem repeat (VNTR) polymorphism in the regulatory part of the INS gene) and a marker 5 ′ of the tyrosine hydroxylase (TH) gene, TH/pINS500RsaI, making it 10 kb 5 ′ of the VNTR. Homozygotes for INS/ + 1140 allele ’ + ' were significantly more frequent among IDDM patients than among control subjects (73 vs 45 %, p 〈 0.001) giving an odds ratio of 3.3 (95 % confidence interval (CI): 2.0–5.3). A very similar association was found for homozygotes for the TH/RsaI allele ’ + ' (53 vs 31 %, p 〈 0.001) giving an odds ratio of 2.6 (95 %CI 1.6–4.2). By multilocus analysis, the TH/RsaI allele ’ + ' identified a subset of INS/ + 1140 alleles ’ + ' haplotypes that are more specifically associated with IDDM (odds ratio = 5.4, 95 %CI 2.9–10.4) than allele + 1140 ’ + ' as a whole. In conclusion, the segment of chromosome 11 that is associated with IDDM spans, at least, the INS and TH loci. No legitimate claim can be made that IDDM2 corresponds to the VNTR polymorphism at the INS locus until the correct boundaries for IDDM2 have been defined and other loci within them have been excluded as determinants of IDDM. [Diabetologia (1996) 39: 594–599]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00403307
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  • 5
    Electronic Resource
    Electronic Resource
    Diabetes susceptibility at IDDM2 cannot be positively mapped to the VNTR locus of the insulin gene (1996)
    Springer
    Diabetologia 39 (1996), S. 594-599 
    Details
    ISSN: 1432-0428
    Keywords: Insulin-dependent diabetes mellitus ; insulin gene ; tyrosine hydroxylase gene ; VNTR ; linkage disequilibrium
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary An inconsistency has come to light between the conclusion of Lucassen et al. that IDDM2 (11p15.5) must lie within a 4.1 kilobase (kb) segment at the insulin (INS) locus and their own data showing statistically significant associations between insulin-dependent diabetes mellitus (IDDM) and markers beyond the boundaries of that segment. We present data from an independent study of 201 IDDM patients and 107 non-diabetic control subjects that also show significant association with a marker 5′ of the INS locus. Patients and control subjects were genotyped at INS/+1140 A/C (a surrogate for the variable number tandem repeat (VNTR) polymorphism in the regulatory part of the INS gene) and a marker 5′ of the tyrosine hydroxylase (TH) gene, TH/pINS500-RsaI, making it 10 kb 5′ of the VNTR. Homozygotes for INS/+1140 allele ‘+’ were significantly more frequent among IDDM patients than among control subjects (73 vs 45%, p〈0.001) giving an odds ratio of 3.3 (95% confidence interval (CI): 2.0–5.3). A very similar association was found for homozygotes for the TH/RsaIallele ‘+’ (53 vs 31%, p〈0.001) giving an odds ratio of 2.6 (95% CI 1.6–4.2). By multilocus analysis, the TH/RsaI allele ‘+’ identified a subset of INS/+1140 alleles ‘+’ haplotypes that are more specifically associated with IDDM (odds ratio = 5.4, 95% CI 2.9–10.4) than allele +1140 ‘+’ as a whole. In conclusion, the segment of chromosome 11 that is associated with IDDM spans, at least, the INS and TH loci. No legitimate claim can be made that IDDM2 corresponds to the VNTR polymorphism at the INS locus until the correct boundaries for IDDM2 have been defined and other loci within them have been excluded as determinants of IDDM.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00403307
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  • 6
    Electronic Resource
    Electronic Resource
    Study of the far-infrared and mm-wave conductivity of YBCO in the normal state (1994)
    Springer
    Il nuovo cimento della Società Italiana di Fisica 16 (1994), S. 1803-1807 
    Details
    ISSN: 0392-6737
    Keywords: Response to electromagnetic fields ; nuclear magnetic resonance ; ultrasonic attenuation ; Conference proceedings
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Summary An accurate determination of the optical conductivity σ(ν) of high-T c materials at low frequencies (ν〈100 cm−1) is still an open problem. In the present paper we report new far-infrared data showing that the LaAlO3 crystal, on which high-quality YBCO films can be deposited, is well transparent at low frequencies. Test measurements have also been performed by employing the ENEA compact FEL facility; preliminary reslts indicate the possibility to obtain high-accuracy spectroscopic data in the mm-wave region. On the basis of these results, we have in program mm-wave and far-infrared transmittance measurements on thin YBCO films on LaAlO3, in order to get new information on the low-frequency behaviour of σ(ν).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02462177
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  • 7
    Electronic Resource
    Electronic Resource
    Spontaneous emission in Ĉerenkov FEL devices: a preliminary theoretical analysis (1988)
    Springer
    Il nuovo cimento della Società Italiana di Fisica 10 (1988), S. 1-20 
    Details
    ISSN: 0392-6737
    Keywords: Lasing processes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Description / Table of Contents: Riassunto In questo lavoro si discutono le caratteristiche dello spettro della radiazione Ĉerenkov, emessa in guide d'onde circolari e rettangolari riempite con dielettrico. Si analizzano inoltre le proprietà della radiazione emessa da un fascio di elettroni in moto in prossimità e parallelamente alla superficie di una »slab» di dielettrico. Si discute, infine, brevemente, l'importanza di questi risultati per la realizzazione di un possibile FEL-Ĉerenkov.
    Abstract: Резюме Обсуждаются основиые особенности спектральных характеристик спонтанного черенковского излучения в круговых и прямоугольных волноводах, заполненных диэлектриком. Также анализируются характеристики излучения, испущенного электронным пучком, движущимся вблизи и пораллелйно поверхности диэлектрической пластинки. В заключение, вкратце обсуждется применимость полученных результатов в возможных FEL-черенковских приборах.
    Notes: Summary The main features of the spectral characteristics of the spontaneously emitted Ĉerenkov light in circular and rectangular wave guides filled with dielectric are discussed. The characteristics of the radiation emitted by an electron beam moving near and parallel to the surface of a dielectric slab are also analysed. Finally, the relevance of these results to a possible FEL-Ĉerenkov operation is briefly discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02450085
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  • 8
    Electronic Resource
    Electronic Resource
    The RFX graphite tiles: Design and tests
    Amsterdam : Elsevier
    Fusion Engineering and Design 9 (1989), S. 167-173 
    Details
    ISSN: 0920-3796
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Energy, Environment Protection, Nuclear Power Engineering , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/S0920-3796(89)80029-8
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  • 9
    Electronic Resource
    Electronic Resource
    Reliability of progressive and additive MRI scoring systems for evaluation of haemophilic arthropathy in children: Expert MRI Working Group of the International Prophylaxis Study Group (2005)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 11 (2005), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  Effective treatment of haemophilic arthropathy requires a detailed evaluation of joint integrity. Methodological assessment of magnetic resonance imaging (MRI) scores are needed to assure reproducibility of measurements when comparing results of clinical trials conducted in different centres. We compared the reliability of two MRI scoring systems for assessment of haemophilic arthropathy: one progressive system that displays the most severe change and one additive system that depicts osteochondral and soft tissue-related changes. A total of 47 1.5 T MRI examinations of knees (n = 21) and ankles (n = 26) of 42 haemophilic boys, age range, 22 months to 18 years, performed at different centres (Toronto, n = 20, Europe, n = 12 and Denver, n = 15) were independently reviewed by four radiologists at two occasions. Twenty-two examinations were from children 〈9 years and 25 from children ≥9. Sagittal and coronal gradient-echo (MPGR, 3D FLASH with fat saturation, GRASS) images were obtained. The MRI examinations of the ankle and knee studies presented with osteochondral abnormalities in 38.5% and 23.8% of the cases respectively. The two scoring systems demonstrated an excellent inter-reader [progressive, 0.88; additive (A, e, s and h components), 0.86] and intra-reader [progressive, 0.92; additive (A, e, s and h components), 0.93] reliability using intraclass correlation coefficients (ICCs). Although ICCs were slightly higher for knees when compared with ankles, and for older children when compared with younger children, all values fell within excellent inter- and intra-reader reliability categories. The two MRI scoring systems demonstrated a comparable reliability. This result constitutes the basis for further development of a combined MRI scoring system for assessment of haemophilic arthropathy, which incorporates progressive and additive components.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.2005.01097.x
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  • 10
    Electronic Resource
    Electronic Resource
    Compatible scales for progressive and additive MRI assessments of haemophilic arthropathy (2005)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 11 (2005), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  The international MRI expert subgroup of the International Prophylaxis Study Group (IPSG) has developed a consensus for magnetic resonance imaging (MRI) scales for assessment of haemophilic arthropathy. A MRI scoring scheme including a 10 step progressive scale and a 20 step additive scale with identical definitions of mutual steps is presented. Using the progressive scale, effusion/haemarthrosis can correspond to progressive scores of 1, 2, or 3, and synovial hypertrophy and/or haemosiderin deposition to 4, 5, or 6. The progressive score can be 7 or 8 if there are subchondral cysts and/or surface erosions, and it is 9 or 10 if there is loss of cartilage. Using the additive scale, synovial hypertrophy contributes 1–3 points to the additive score and haemosiderin deposition contributes 1 point. For osteochondral changes, 16 statements are evaluated as to whether they are true or false, and each true statement contributes 1 point to the additive score. The use of these two compatible scales for progressive and additive MRI assessments can facilitate international comparison of data and enhance the accumulation of experience on MRI scoring of haemophilic arthropathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.2005.01049.x
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