23 results on '"Kjeldsen M"'
Search Results
2. High-precision photometry by telescope defocussing – VI. WASP-24, WASP-25 and WASP-26
- Author
-
Southworth, John, Hinse, T.C., Burgdorf, M., Calchi Novati, S., Dominik, M., Galianni, P., Gerner, T., Giannini, Edward H, Hundertmark, Markus, Jørgensen, Uffe Gråe, Skottfelt, Jesper Mirsa, Harpsøe, Kennet Bomann West, Korhonen, Heidi Helena, Popovas, Andrius, Jessen-Hansen, Jens, Lund, Mikkel N., Kjeldsen, M., Juncher, Diana, Andersen, Michael Ingemann, Southworth, John, Hinse, T.C., Burgdorf, M., Calchi Novati, S., Dominik, M., Galianni, P., Gerner, T., Giannini, Edward H, Hundertmark, Markus, Jørgensen, Uffe Gråe, Skottfelt, Jesper Mirsa, Harpsøe, Kennet Bomann West, Korhonen, Heidi Helena, Popovas, Andrius, Jessen-Hansen, Jens, Lund, Mikkel N., Kjeldsen, M., Juncher, Diana, and Andersen, Michael Ingemann
- Abstract
We present time series photometric observations of 13 transits in the planetary systems WASP-24, WASP-25 and WASP-26. All three systems have orbital obliquity measurements, WASP-24 and WASP-26 have been observed with Spitzer, and WASP-25 was previously comparatively neglected. Our light curves were obtained using the telescope-defocussing method and have scatters of 0.5–1.2 mmag relative to their best-fitting geometric models. We use these data to measure the physical properties and orbital ephemerides of the systems to high precision, finding that our improved measurements are in good agreement with previous studies. High-resolution Lucky Imaging observations of all three targets show no evidence for faint stars close enough to contaminate our photometry. We confirm the eclipsing nature of the star closest to WASP-24 and present the detection of a detached eclipsing binary within 4.25 arcmin of WASP-26
- Published
- 2014
3. High-precision photometry by telescope defocussing – VI. WASP-24, WASP-25 and WASP-26
- Author
-
Southworth, John, Hinse, T.C., Burgdorf, M., Calchi Novati, S., Dominik, M., Galianni, P., Gerner, T., Giannini, Edward H, Hundertmark, Markus, Jørgensen, Uffe Gråe, Skottfelt, Jesper Mirsa, Harpsøe, Kennet Bomann West, Korhonen, Heidi Helena, Popovas, Andrius, Jessen-Hansen, Jens, Lund, Mikkel N., Kjeldsen, M., Juncher, Diana, Andersen, Michael Ingemann, Southworth, John, Hinse, T.C., Burgdorf, M., Calchi Novati, S., Dominik, M., Galianni, P., Gerner, T., Giannini, Edward H, Hundertmark, Markus, Jørgensen, Uffe Gråe, Skottfelt, Jesper Mirsa, Harpsøe, Kennet Bomann West, Korhonen, Heidi Helena, Popovas, Andrius, Jessen-Hansen, Jens, Lund, Mikkel N., Kjeldsen, M., Juncher, Diana, and Andersen, Michael Ingemann
- Abstract
We present time series photometric observations of 13 transits in the planetary systems WASP-24, WASP-25 and WASP-26. All three systems have orbital obliquity measurements, WASP-24 and WASP-26 have been observed with Spitzer, and WASP-25 was previously comparatively neglected. Our light curves were obtained using the telescope-defocussing method and have scatters of 0.5–1.2 mmag relative to their best-fitting geometric models. We use these data to measure the physical properties and orbital ephemerides of the systems to high precision, finding that our improved measurements are in good agreement with previous studies. High-resolution Lucky Imaging observations of all three targets show no evidence for faint stars close enough to contaminate our photometry. We confirm the eclipsing nature of the star closest to WASP-24 and present the detection of a detached eclipsing binary within 4.25 arcmin of WASP-26
- Published
- 2014
4. Multiple‐locus variable‐number tandem repeat analysis of Salmonella enterica subsp. enterica serovar Dublin
- Author
-
Kjeldsen, M. K., Torpdahl, M., Campos, J., Pedersen, Karl, Nielsen, E. M., Kjeldsen, M. K., Torpdahl, M., Campos, J., Pedersen, Karl, and Nielsen, E. M.
- Abstract
Salmonella serovar Dublin causes disease in cattle and leads to considerable production losses. In humans, severe invasive disease and high mortality rates are reported. The presently available typing methods provide insufficient discrimination within Salm. Dublin for epidemiological investigations. In this study, we developed a multiple‐locus variable‐number tandem repeat analysis (MLVA) scheme for high discriminatory typing of Salm. Dublin. Nine loci of variable number of tandem repeats (VNTRs) were evaluated based on a panel of 40 diverse isolates. The four most discriminative VNTRs were selected for further MLVA analysis. The discriminatory power was evaluated on 272 veterinary and human isolates plus 29 outbreak‐related isolates. MLVA divided the 272 isolates into 103 types and successfully identified isolates from an epidemiologically confirmed outbreak. VNTRs exhibited 100% in vitro stability and contained only true repeats. The discriminatory power of the MLVA was compared to pulsed‐field gel electrophoresis (PFGE). When analysing a subset of 106 isolates, MLVA obtained 60 types (index of diversity (DI) of 0·97), while PFGE revealed 10 types (DI of 0·57). The technique showed a significantly enhanced discriminatory power compared with the current ‘gold standard’ PFGE. MLVA is a fast and low‐cost method. This MLVA method can be recommended to be used in routine subtyping of isolates for outbreak investigations and disease surveillance. The method may provide valuable additional information that can improve the effectiveness of epidemiological investigations of Salm. Dublin infections in patients as well as in the primary production and thereby contribute to the efforts of reducing transmission of infection.
- Published
- 2014
5. European guidelines on cardiovascular disease prevention in clinical practice: executive summary.
- Author
-
Graham, I., Atar, D., Borch-Johnsen, K., Boysen, G., Burell, G., Cifkova, R., Dallongeville, J., Backer, G. de, Ebrahim, S., Gjelsvik, B., Hermann-Lingen, C., Hoes, A.W., Humphries, S.E., Knapton, M., Perk, J., Priori, S.G., Pyorala, K., Reiner, Z., Ruilope, L., Sans-Menendez, S., Scholte op Reimer, W.J., Weissberg, P., Wood, D.J., Yarnell, J.W., Zamorano, J.L., Walma, E.P., Fitzgerald, T., Cooney, M.T., Dudina, A., Vahanian, A., Camm, J., Caterina, R. de, Dean, V., Dickstein, K., Funck-Brentano, C., Filippatos, G., Hellemans, I., Kristensen, S.D., McGregor, K., Sechtem, U., Silber, S., Tendera, M., Widimsky, P., Altiner, A., Bonora, E., Durrington, P.N., Fagard, R., Giampaoli, S., Hemingway, H., Hakansson, J., Kjeldsen, M., Larsen, M.L., Mancia, G., Manolis, A.J., Orth-Gomer, K., Pedersen, T., Rayner, M., Ryden, L., Sammut, M., Schneiderman, N., Stalenhoef, A.F.H., Tokgozoglu, L., Wiklund, O., Zampelas, A., Graham, I., Atar, D., Borch-Johnsen, K., Boysen, G., Burell, G., Cifkova, R., Dallongeville, J., Backer, G. de, Ebrahim, S., Gjelsvik, B., Hermann-Lingen, C., Hoes, A.W., Humphries, S.E., Knapton, M., Perk, J., Priori, S.G., Pyorala, K., Reiner, Z., Ruilope, L., Sans-Menendez, S., Scholte op Reimer, W.J., Weissberg, P., Wood, D.J., Yarnell, J.W., Zamorano, J.L., Walma, E.P., Fitzgerald, T., Cooney, M.T., Dudina, A., Vahanian, A., Camm, J., Caterina, R. de, Dean, V., Dickstein, K., Funck-Brentano, C., Filippatos, G., Hellemans, I., Kristensen, S.D., McGregor, K., Sechtem, U., Silber, S., Tendera, M., Widimsky, P., Altiner, A., Bonora, E., Durrington, P.N., Fagard, R., Giampaoli, S., Hemingway, H., Hakansson, J., Kjeldsen, M., Larsen, M.L., Mancia, G., Manolis, A.J., Orth-Gomer, K., Pedersen, T., Rayner, M., Ryden, L., Sammut, M., Schneiderman, N., Stalenhoef, A.F.H., Tokgozoglu, L., Wiklund, O., and Zampelas, A.
- Abstract
Contains fulltext : 52036.pdf ( ) (Open Access)
- Published
- 2007
6. European guidelines on cardiovascular disease prevention in clinical practice: executive summary.
- Author
-
Graham, I., Atar, D., Borch-Johnsen, K., Boysen, G., Burell, G., Cifkova, R., Dallongeville, J., Backer, G. de, Ebrahim, S., Gjelsvik, B., Hermann-Lingen, C., Hoes, A.W., Humphries, S.E., Knapton, M., Perk, J., Priori, S.G., Pyorala, K., Reiner, Z., Ruilope, L., Sans-Menendez, S., Scholte op Reimer, W.J., Weissberg, P., Wood, D.J., Yarnell, J.W., Zamorano, J.L., Walma, E.P., Fitzgerald, T., Cooney, M.T., Dudina, A., Vahanian, A., Camm, J., Caterina, R. de, Dean, V., Dickstein, K., Funck-Brentano, C., Filippatos, G., Hellemans, I., Kristensen, S.D., McGregor, K., Sechtem, U., Silber, S., Tendera, M., Widimsky, P., Altiner, A., Bonora, E., Durrington, P.N., Fagard, R., Giampaoli, S., Hemingway, H., Hakansson, J., Kjeldsen, M., Larsen, M.L., Mancia, G., Manolis, A.J., Orth-Gomer, K., Pedersen, T., Rayner, M., Ryden, L., Sammut, M., Schneiderman, N., Stalenhoef, A.F.H., Tokgozoglu, L., Wiklund, O., Zampelas, A., Graham, I., Atar, D., Borch-Johnsen, K., Boysen, G., Burell, G., Cifkova, R., Dallongeville, J., Backer, G. de, Ebrahim, S., Gjelsvik, B., Hermann-Lingen, C., Hoes, A.W., Humphries, S.E., Knapton, M., Perk, J., Priori, S.G., Pyorala, K., Reiner, Z., Ruilope, L., Sans-Menendez, S., Scholte op Reimer, W.J., Weissberg, P., Wood, D.J., Yarnell, J.W., Zamorano, J.L., Walma, E.P., Fitzgerald, T., Cooney, M.T., Dudina, A., Vahanian, A., Camm, J., Caterina, R. de, Dean, V., Dickstein, K., Funck-Brentano, C., Filippatos, G., Hellemans, I., Kristensen, S.D., McGregor, K., Sechtem, U., Silber, S., Tendera, M., Widimsky, P., Altiner, A., Bonora, E., Durrington, P.N., Fagard, R., Giampaoli, S., Hemingway, H., Hakansson, J., Kjeldsen, M., Larsen, M.L., Mancia, G., Manolis, A.J., Orth-Gomer, K., Pedersen, T., Rayner, M., Ryden, L., Sammut, M., Schneiderman, N., Stalenhoef, A.F.H., Tokgozoglu, L., Wiklund, O., and Zampelas, A.
- Abstract
Contains fulltext : 52036.pdf ( ) (Open Access)
- Published
- 2007
7. European guidelines on cardiovascular disease prevention in clinical practice: executive summary.
- Author
-
Graham, I., Atar, D., Borch-Johnsen, K., Boysen, G., Burell, G., Cifkova, R., Dallongeville, J., Backer, G. de, Ebrahim, S., Gjelsvik, B., Hermann-Lingen, C., Hoes, A.W., Humphries, S.E., Knapton, M., Perk, J., Priori, S.G., Pyorala, K., Reiner, Z., Ruilope, L., Sans-Menendez, S., Scholte op Reimer, W.J., Weissberg, P., Wood, D.J., Yarnell, J.W., Zamorano, J.L., Walma, E.P., Fitzgerald, T., Cooney, M.T., Dudina, A., Vahanian, A., Camm, J., Caterina, R. de, Dean, V., Dickstein, K., Funck-Brentano, C., Filippatos, G., Hellemans, I., Kristensen, S.D., McGregor, K., Sechtem, U., Silber, S., Tendera, M., Widimsky, P., Altiner, A., Bonora, E., Durrington, P.N., Fagard, R., Giampaoli, S., Hemingway, H., Hakansson, J., Kjeldsen, M., Larsen, M.L., Mancia, G., Manolis, A.J., Orth-Gomer, K., Pedersen, T., Rayner, M., Ryden, L., Sammut, M., Schneiderman, N., Stalenhoef, A.F.H., Tokgozoglu, L., Wiklund, O., Zampelas, A., Graham, I., Atar, D., Borch-Johnsen, K., Boysen, G., Burell, G., Cifkova, R., Dallongeville, J., Backer, G. de, Ebrahim, S., Gjelsvik, B., Hermann-Lingen, C., Hoes, A.W., Humphries, S.E., Knapton, M., Perk, J., Priori, S.G., Pyorala, K., Reiner, Z., Ruilope, L., Sans-Menendez, S., Scholte op Reimer, W.J., Weissberg, P., Wood, D.J., Yarnell, J.W., Zamorano, J.L., Walma, E.P., Fitzgerald, T., Cooney, M.T., Dudina, A., Vahanian, A., Camm, J., Caterina, R. de, Dean, V., Dickstein, K., Funck-Brentano, C., Filippatos, G., Hellemans, I., Kristensen, S.D., McGregor, K., Sechtem, U., Silber, S., Tendera, M., Widimsky, P., Altiner, A., Bonora, E., Durrington, P.N., Fagard, R., Giampaoli, S., Hemingway, H., Hakansson, J., Kjeldsen, M., Larsen, M.L., Mancia, G., Manolis, A.J., Orth-Gomer, K., Pedersen, T., Rayner, M., Ryden, L., Sammut, M., Schneiderman, N., Stalenhoef, A.F.H., Tokgozoglu, L., Wiklund, O., and Zampelas, A.
- Abstract
Contains fulltext : 52036.pdf ( ) (Open Access)
- Published
- 2007
8. Cavitation inception by almost spherical solid particles in water
- Author
-
Marschall, H.B., Mørch, Knud Aage, Keller, A.P., Kjeldsen, M., Marschall, H.B., Mørch, Knud Aage, Keller, A.P., and Kjeldsen, M.
- Abstract
The tensile strength of water increases when solid particles are filtered out, and it becomes greater the smaller the remaining particles are. Natural particles are of random shape, making parametric studies on the relationship between tensile strength and particle characteristics difficult. In this investigation, using degassed tap water from which natural particles larger than about 1 µm had been filtered out, the tensile strength was measured before and after seeding with almost spherical solid balls of diameters from 3 up to 76 µm. The smallest balls, one type being hydrophobic, the other hydrophilic, had no measurable influence on the tensile strength, though they were notably larger than the remaining natural nuclei. Seeding with the larger balls, hydrophilic as well as hydrophobic ones, reduced the tensile strength compared with that measured for unseeded, filtered water, but at most down to 1/3. On this basis it is concluded that a greater tensile strength is connected to the almost spherical solid balls than that due to natural particles of the same size. The critical cavities developed from the larger balls had radii much smaller than those of the balls themselves. This supports the hypothesis that cavitation nuclei are related to the fine scale surface structures observed on the balls, and in dependence of their global radii of curvature, critical cavities are developed. A model of this development is presented. ©2003 American Institute of Physics.
- Published
- 2003
9. Cavitation inception by almost spherical solid particles in water
- Author
-
Marschall, H.B., Mørch, Knud Aage, Keller, A.P., Kjeldsen, M., Marschall, H.B., Mørch, Knud Aage, Keller, A.P., and Kjeldsen, M.
- Abstract
The tensile strength of water increases when solid particles are filtered out, and it becomes greater the smaller the remaining particles are. Natural particles are of random shape, making parametric studies on the relationship between tensile strength and particle characteristics difficult. In this investigation, using degassed tap water from which natural particles larger than about 1 µm had been filtered out, the tensile strength was measured before and after seeding with almost spherical solid balls of diameters from 3 up to 76 µm. The smallest balls, one type being hydrophobic, the other hydrophilic, had no measurable influence on the tensile strength, though they were notably larger than the remaining natural nuclei. Seeding with the larger balls, hydrophilic as well as hydrophobic ones, reduced the tensile strength compared with that measured for unseeded, filtered water, but at most down to 1/3. On this basis it is concluded that a greater tensile strength is connected to the almost spherical solid balls than that due to natural particles of the same size. The critical cavities developed from the larger balls had radii much smaller than those of the balls themselves. This supports the hypothesis that cavitation nuclei are related to the fine scale surface structures observed on the balls, and in dependence of their global radii of curvature, critical cavities are developed. A model of this development is presented. ©2003 American Institute of Physics.
- Published
- 2003
10. Cavitation inception by almost spherical solid particles in water
- Author
-
Marschall, H.B., Mørch, Knud Aage, Keller, A.P., Kjeldsen, M., Marschall, H.B., Mørch, Knud Aage, Keller, A.P., and Kjeldsen, M.
- Abstract
The tensile strength of water increases when solid particles are filtered out, and it becomes greater the smaller the remaining particles are. Natural particles are of random shape, making parametric studies on the relationship between tensile strength and particle characteristics difficult. In this investigation, using degassed tap water from which natural particles larger than about 1 µm had been filtered out, the tensile strength was measured before and after seeding with almost spherical solid balls of diameters from 3 up to 76 µm. The smallest balls, one type being hydrophobic, the other hydrophilic, had no measurable influence on the tensile strength, though they were notably larger than the remaining natural nuclei. Seeding with the larger balls, hydrophilic as well as hydrophobic ones, reduced the tensile strength compared with that measured for unseeded, filtered water, but at most down to 1/3. On this basis it is concluded that a greater tensile strength is connected to the almost spherical solid balls than that due to natural particles of the same size. The critical cavities developed from the larger balls had radii much smaller than those of the balls themselves. This supports the hypothesis that cavitation nuclei are related to the fine scale surface structures observed on the balls, and in dependence of their global radii of curvature, critical cavities are developed. A model of this development is presented. ©2003 American Institute of Physics.
- Published
- 2003
11. Cavitation inception by almost spherical solid particles in water
- Author
-
Marschall, H.B., Mørch, Knud Aage, Keller, A.P., Kjeldsen, M., Marschall, H.B., Mørch, Knud Aage, Keller, A.P., and Kjeldsen, M.
- Abstract
The tensile strength of water increases when solid particles are filtered out, and it becomes greater the smaller the remaining particles are. Natural particles are of random shape, making parametric studies on the relationship between tensile strength and particle characteristics difficult. In this investigation, using degassed tap water from which natural particles larger than about 1 µm had been filtered out, the tensile strength was measured before and after seeding with almost spherical solid balls of diameters from 3 up to 76 µm. The smallest balls, one type being hydrophobic, the other hydrophilic, had no measurable influence on the tensile strength, though they were notably larger than the remaining natural nuclei. Seeding with the larger balls, hydrophilic as well as hydrophobic ones, reduced the tensile strength compared with that measured for unseeded, filtered water, but at most down to 1/3. On this basis it is concluded that a greater tensile strength is connected to the almost spherical solid balls than that due to natural particles of the same size. The critical cavities developed from the larger balls had radii much smaller than those of the balls themselves. This supports the hypothesis that cavitation nuclei are related to the fine scale surface structures observed on the balls, and in dependence of their global radii of curvature, critical cavities are developed. A model of this development is presented. ©2003 American Institute of Physics.
- Published
- 2003
12. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
- Author
-
Corydon, M.J., Vockley, J., Rinaldo, P., Rhead, W.J., Kjeldsen, M., Winter, V., Riggs, C., Babovic-Vuksanovic, D., Smeitink, J.A.M., Jong, J. de, Levy, H.L., Sewell, A.C., Roe, C., Matern, D., Dasouki, M., Gregersen, N., Corydon, M.J., Vockley, J., Rinaldo, P., Rhead, W.J., Kjeldsen, M., Winter, V., Riggs, C., Babovic-Vuksanovic, D., Smeitink, J.A.M., Jong, J. de, Levy, H.L., Sewell, A.C., Roe, C., Matern, D., Dasouki, M., and Gregersen, N.
- Abstract
Item does not contain fulltext, Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder. Less than 10 patients have been reported, diagnosed on the basis of ethylmalonic aciduria and low SCAD activity in cultured fibroblast. However, mild ethylmalonic aciduria, a biochemical marker of functional SCAD deficiency in vivo, is a common finding in patients suspected of having metabolic disorders. Based on previous observations, we have proposed that ethylmalonic aciduria in a small proportion of cases is caused by pathogenic SCAD gene mutations, and SCAD deficiency can be demonstrated in fibroblasts. Another - much more frequent - group of patients with mild ethylmalonic aciduria has functional SCAD deficiency due to the presence of susceptibility SCAD gene variations, i.e. 625G>A and 511C>T, in whom a variable or moderately reduced SCAD activity in fibroblasts may still be clinically relevant. To substantiate this notion we performed sequence analysis of the SCAD gene in 10 patients with ethylmalonic aciduria and diagnosed with SCAD deficiency in fibroblasts. Surprisingly, only one of the 10 patients carried pathogenic mutations in both alleles, while five were double heterozygotes for a pathogenic mutation in one allele and the 625G>A susceptibility variation in the other. The remaining four patients carried only either the 511C>T or the 625G>A variations in each allele. Our findings document that patients carrying these SCAD gene variations may develop clinically relevant SCAD deficiency, and that patients with even mild ethylmalonic aciduria should be tested for these variations.
- Published
- 2001
13. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
- Author
-
Corydon, M.J., Vockley, J., Rinaldo, P., Rhead, W.J., Kjeldsen, M., Winter, V., Riggs, C., Babovic-Vuksanovic, D., Smeitink, J.A.M., Jong, J. de, Levy, H.L., Sewell, A.C., Roe, C., Matern, D., Dasouki, M., Gregersen, N., Corydon, M.J., Vockley, J., Rinaldo, P., Rhead, W.J., Kjeldsen, M., Winter, V., Riggs, C., Babovic-Vuksanovic, D., Smeitink, J.A.M., Jong, J. de, Levy, H.L., Sewell, A.C., Roe, C., Matern, D., Dasouki, M., and Gregersen, N.
- Abstract
Item does not contain fulltext, Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder. Less than 10 patients have been reported, diagnosed on the basis of ethylmalonic aciduria and low SCAD activity in cultured fibroblast. However, mild ethylmalonic aciduria, a biochemical marker of functional SCAD deficiency in vivo, is a common finding in patients suspected of having metabolic disorders. Based on previous observations, we have proposed that ethylmalonic aciduria in a small proportion of cases is caused by pathogenic SCAD gene mutations, and SCAD deficiency can be demonstrated in fibroblasts. Another - much more frequent - group of patients with mild ethylmalonic aciduria has functional SCAD deficiency due to the presence of susceptibility SCAD gene variations, i.e. 625G>A and 511C>T, in whom a variable or moderately reduced SCAD activity in fibroblasts may still be clinically relevant. To substantiate this notion we performed sequence analysis of the SCAD gene in 10 patients with ethylmalonic aciduria and diagnosed with SCAD deficiency in fibroblasts. Surprisingly, only one of the 10 patients carried pathogenic mutations in both alleles, while five were double heterozygotes for a pathogenic mutation in one allele and the 625G>A susceptibility variation in the other. The remaining four patients carried only either the 511C>T or the 625G>A variations in each allele. Our findings document that patients carrying these SCAD gene variations may develop clinically relevant SCAD deficiency, and that patients with even mild ethylmalonic aciduria should be tested for these variations.
- Published
- 2001
14. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
- Author
-
Corydon, M.J., Vockley, J., Rinaldo, P., Rhead, W.J., Kjeldsen, M., Winter, V., Riggs, C., Babovic-Vuksanovic, D., Smeitink, J.A.M., Jong, J. de, Levy, H.L., Sewell, A.C., Roe, C., Matern, D., Dasouki, M., Gregersen, N., Corydon, M.J., Vockley, J., Rinaldo, P., Rhead, W.J., Kjeldsen, M., Winter, V., Riggs, C., Babovic-Vuksanovic, D., Smeitink, J.A.M., Jong, J. de, Levy, H.L., Sewell, A.C., Roe, C., Matern, D., Dasouki, M., and Gregersen, N.
- Abstract
Item does not contain fulltext, Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder. Less than 10 patients have been reported, diagnosed on the basis of ethylmalonic aciduria and low SCAD activity in cultured fibroblast. However, mild ethylmalonic aciduria, a biochemical marker of functional SCAD deficiency in vivo, is a common finding in patients suspected of having metabolic disorders. Based on previous observations, we have proposed that ethylmalonic aciduria in a small proportion of cases is caused by pathogenic SCAD gene mutations, and SCAD deficiency can be demonstrated in fibroblasts. Another - much more frequent - group of patients with mild ethylmalonic aciduria has functional SCAD deficiency due to the presence of susceptibility SCAD gene variations, i.e. 625G>A and 511C>T, in whom a variable or moderately reduced SCAD activity in fibroblasts may still be clinically relevant. To substantiate this notion we performed sequence analysis of the SCAD gene in 10 patients with ethylmalonic aciduria and diagnosed with SCAD deficiency in fibroblasts. Surprisingly, only one of the 10 patients carried pathogenic mutations in both alleles, while five were double heterozygotes for a pathogenic mutation in one allele and the 625G>A susceptibility variation in the other. The remaining four patients carried only either the 511C>T or the 625G>A variations in each allele. Our findings document that patients carrying these SCAD gene variations may develop clinically relevant SCAD deficiency, and that patients with even mild ethylmalonic aciduria should be tested for these variations.
- Published
- 2001
15. Effect of whole oral bacteria and extracted lipopolysaccharides on peripheral blood leukocyte interleukin-2 receptor expression
- Author
-
Lindemann, R.A., Kjeldsen, M., Cabret, M., Lindemann, R.A., Kjeldsen, M., and Cabret, M.
- Published
- 1995
16. Bacterial-Stimulated Cytokine Production of Peripheral Mononuclear Cells from Patients of various Periodontitis Categories
- Author
-
Kjeldsen, M., Holmstrup, P., Lindemann, R.A., Bendtzen, Klaus, Kjeldsen, M., Holmstrup, P., Lindemann, R.A., and Bendtzen, Klaus
- Published
- 1995
17. Effect of whole oral bacteria and extracted lipopolysaccharides on peripheral blood leukocyte interleukin-2 receptor expression
- Author
-
Lindemann, R.A., Kjeldsen, M., Cabret, M., Lindemann, R.A., Kjeldsen, M., and Cabret, M.
- Published
- 1995
18. Bacterial-Stimulated Cytokine Production of Peripheral Mononuclear Cells from Patients of various Periodontitis Categories
- Author
-
Kjeldsen, M., Holmstrup, P., Lindemann, R.A., Bendtzen, Klaus, Kjeldsen, M., Holmstrup, P., Lindemann, R.A., and Bendtzen, Klaus
- Published
- 1995
19. Ubiquinon (coenzym Q*U1*U0) i plasma i forskellige parodontitisgrupper og en kasuistik
- Author
-
Kjeldsen, M., Moe, Dennis, Kjeldsen, M., and Moe, Dennis
- Published
- 1994
20. Ubiquinon (coenzym Q*U1*U0) i plasma i forskellige parodontitisgrupper og en kasuistik
- Author
-
Kjeldsen, M., Moe, Dennis, Kjeldsen, M., and Moe, Dennis
- Published
- 1994
21. Ubiquinon (coenzym Q*U1*U0) i plasma i forskellige parodontitisgrupper og en kasuistik
- Author
-
Kjeldsen, M., Moe, Dennis, Kjeldsen, M., and Moe, Dennis
- Published
- 1994
22. Marginal Periodontitis and Cytokines: A review of the literature
- Author
-
Kjeldsen, M., Holmstrup, P., Bendtzen, Klaus, Kjeldsen, M., Holmstrup, P., and Bendtzen, Klaus
- Published
- 1993
23. Marginal Periodontitis and Cytokines: A review of the literature
- Author
-
Kjeldsen, M., Holmstrup, P., Bendtzen, Klaus, Kjeldsen, M., Holmstrup, P., and Bendtzen, Klaus
- Published
- 1993
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