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188 results on '"Belli, Dominique C."'

23. Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

Author

Chardot Christophe, Kern Ilse, Jackson Christopher B, Hahn Dagmar, Schaller André, Belli Dominique C, Gallati Sabina, and Nuoffer Jean-Marc

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background DNA polymerase γ (POLG) is the only known mitochondrial DNA (mtDNA) polymerase. It mediates mtDNA replication and base excision repair. Mutations in the POLG gene lead to reduction of functional mtDNA (mtDNA depletion and/or deletions) and are therefore predicted to result in defective oxidative phosphorylation (OXPHOS). Many mutations map to the polymerase and exonuclease domains of the enzyme and produce a broad clinical spectrum. The most frequent mutation p.A467T is localised in the linker region between these domains. In compound heterozygote patients the p.A467T mutation has been described to be associated amongst others with fatal childhood encephalopathy. These patients have a poorer survival rate compared to homozygotes. Methods mtDNA content in various tissues (fibroblasts, muscle and liver) was quantified using quantitative PCR (qPCR). OXPHOS activities in the same tissues were assessed using spectrophotometric methods and catalytic stain of BN-PAGE. Results We characterise a novel splice site mutation in POLG found in trans with the p.A467T mutation in a 3.5 years old boy with valproic acid induced acute liver failure (Alpers-Huttenlocher syndrome). These mutations result in a tissue specific depletion of the mtDNA which correlates with the OXPHOS-activities. Conclusions mtDNA depletion can be expressed in a high tissue-specific manner and confirms the need to analyse primary tissue. Furthermore, POLG analysis optimises clinical management in the early stages of disease and reinforces the need for its evaluation before starting valproic acid treatment.

Published
2011
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24. Body composition analysis by dual-energy x-ray absorptiometry in adults with cystic fibrosis

Author

Rochat, Thierry, Slosman, Daniel O., Pichard, Claude, and Belli, Dominique C.

Subjects
Cystic fibrosis -- Care and treatment -- Diagnosis -- Research, Body composition -- Research -- Methods, Malnutrition -- Diagnosis -- Care and treatment -- Research, Absorption (Physiology) -- Research -- Methods, Health, Diagnosis, Care and treatment, Research, Methods
Abstract

Assessment of nutritional status is important in cystic fibrosis (CF). We performed body composition analysis by dual-energy x-ray absorptiometry (DXA) in 12 adults with CF, 7 of them with malnutrition [...]

Published
1994
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25. Chemotactic Factors in Bronchial Secretions of Cystic Fibrosis Patients

Author

Pastore, Fabienne Dayer, Schlegel-Haueter, Susanna E., Belli, Dominique C., Rochat, Thierry, Dudez, Tecla S., Suter, Susanne, Pastore, Fabienne Dayer, Schlegel-Haueter, Susanna E., Belli, Dominique C., Rochat, Thierry, Dudez, Tecla S., and Suter, Susanne

Abstract

To understand chronic neutrophil attraction into cystic fibrosis airways, both global chemotactic activity and individual chemotactic factors were studied in bronchial secretions. Bronchial secretions of 8 cystic fibrosis patients, collected on the first day of admission for antibiotic treatment, showed a high chemotactic index (19.4 ± 5.7, n = 8). Fractionation by gel filtration of bronchial secretions resulted in three chemotactic fractions. The first factor corresponded to interleukin-8, and the second activated neutrophils via the FMLP receptor. The third factor, which was of lower molecular weight, did not activate FMLP or leukotriene B4 receptors, and its nature is still under investigation. Treating patients with antibiotics reduced global chemotactic activity, mainly by reducing the activity due to stimulation of the FMLP receptor

Published
2017

30. Eviter l'obésité à l'âge adulte

Author

Tabin, René, primary, Farpour Lambert, Nathalie J., additional, Maggio, Albane, additional, Moix, Jean-Bernard, additional, Dupuis, Georges, additional, and Belli, Dominique C., additional

Published
2012
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36. FOOD POISONING AS A CAUSE OF ACUTE LIVER FAILURE

Author

Pósfay-Barbe, Klara M., primary, Schrenzel, Jacques, additional, Frey, Joachim, additional, Studer, René, additional, Korff, Christian, additional, Belli, Dominique C., additional, Parvex, Paloma, additional, Rimensberger, Peter C., additional, and Schäppi, Michela G., additional

Published
2008
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47. The Role of Cisapride in the Treatment of Pediatric Gastroesophageal Reflux

Author

Vandenplas, Yvan, primary, Belli, Dominique C., additional, Benatar, Avram, additional, Cadranel, Samy, additional, Cucchiara, Salvatore, additional, Dupont, Christophe, additional, Gottrand, Fréderique, additional, Hassall, Eric, additional, Heymans, Hugo S. A., additional, Kearns, Gregory, additional, Kneepkens, C. M. Frank, additional, Koletzko, Sybille, additional, Milla, Peter, additional, Polanco, Isabel, additional, and Staiano, Anna-Maria, additional

Published
1999
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48. Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

Author

Ries, Stefan, primary, Büchler, Christa, additional, Schindler, Gisela, additional, Aslanidis, Charalampos, additional, Ameis, Detlev, additional, Gasche, Christoph, additional, Jung, Nikola, additional, Schambach, Axel, additional, Fehringer, Petra, additional, Vanier, Marie T., additional, Belli, Dominique C., additional, Greten, Heiner, additional, and Schmitz, Gerd, additional

Published
1998
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50. Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

Author

Schaller, André, Hahn, Dagmar, Jackson, Christopher B., Kern, Ilse, Chardot, Christophe, Belli, Dominique C., Gallati, Sabina, and Nuoffer, Jean-Marc

Subjects
MITOCHONDRIAL DNA, GENETIC mutation, GENETICS, LIVER diseases, FIBROBLASTS
Abstract

Background: DNA polymerase g (POLG) is the only known mitochondrial DNA (mtDNA) polymerase. It mediates mtDNA replication and base excision repair. Mutations in the POLG gene lead to reduction of functional mtDNA (mtDNA depletion and/or deletions) and are therefore predicted to result in defective oxidative phosphorylation (OXPHOS). Many mutations map to the polymerase and exonuclease domains of the enzyme and produce a broad clinical spectrum. The most frequent mutation p.A467T is localised in the linker region between these domains. In compound heterozygote patients the p.A467T mutation has been described to be associated amongst others with fatal childhood encephalopathy. These patients have a poorer survival rate compared to homozygotes. Methods: mtDNA content in various tissues (fibroblasts, muscle and liver) was quantified using quantitative PCR (qPCR). OXPHOS activities in the same tissues were assessed using spectrophotometric methods and catalytic stain of BN-PAGE. Results: We characterise a novel splice site mutation in POLG found in trans with the p.A467T mutation in a 3.5 years old boy with valproic acid induced acute liver failure (Alpers-Huttenlocher syndrome). These mutations result in a tissue specific depletion of the mtDNA which correlates with the OXPHOS-activities. Conclusions: mtDNA depletion can be expressed in a high tissue-specific manner and confirms the need to analyse primary tissue. Furthermore, POLG analysis optimises clinical management in the early stages of disease and reinforces the need for its evaluation before starting valproic acid treatment. [ABSTRACT FROM AUTHOR]

Published
2011
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