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See detailSubgroup and resistance analyses of raltegravir for resistant HIV-1 infection.
Cooper, David A; Steigbigel, Roy T; Gatell, Jose M et al

in New England Journal of Medicine [=NEJM] (2008), 359(4), 355-65

BACKGROUND: We evaluated the efficacy of raltegravir and the development of viral resistance in two identical trials involving patients who were infected with human immunodeficiency virus type 1 (HIV-1 ... [more ▼]

BACKGROUND: We evaluated the efficacy of raltegravir and the development of viral resistance in two identical trials involving patients who were infected with human immunodeficiency virus type 1 (HIV-1) with triple-class drug resistance and in whom antiretroviral therapy had failed. METHODS: We conducted subgroup analyses of the data from week 48 in both studies according to baseline prognostic factors. Genotyping of the integrase gene was performed in raltegravir recipients who had virologic failure. RESULTS: Virologic responses to raltegravir were consistently superior to responses to placebo, regardless of the baseline values of HIV-1 RNA level; CD4 cell count; genotypic or phenotypic sensitivity score; use or nonuse of darunavir, enfuvirtide, or both in optimized background therapy; or demographic characteristics. Among patients in the two studies combined who were using both enfuvirtide and darunavir for the first time, HIV-1 RNA levels of less than 50 copies per milliliter were achieved in 89% of raltegravir recipients and 68% of placebo recipients. HIV-1 RNA levels of less than 50 copies per milliliter were achieved in 69% and 80% of the raltegravir recipients and in 47% and 57% of the placebo recipients using either darunavir or enfuvirtide for the first time, respectively. At 48 weeks, 105 of the 462 raltegravir recipients (23%) had virologic failure. Genotyping was performed in 94 raltegravir recipients with virologic failure. Integrase mutations known to be associated with phenotypic resistance to raltegravir arose during treatment in 64 patients (68%). Forty-eight of these 64 patients (75%) had two or more resistance-associated mutations. CONCLUSIONS: When combined with an optimized background regimen in both studies, a consistently favorable treatment effect of raltegravir over placebo was shown in clinically relevant subgroups of patients, including those with baseline characteristics that typically predict a poor response to antiretroviral therapy: a high HIV-1 RNA level, low CD4 cell count, and low genotypic or phenotypic sensitivity score. (ClinicalTrials.gov numbers, NCT00293267 and NCT00293254.) [less ▲]

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See detailMobilité scolaire et composition sociale des écoles : le cas de l'enseignement fondamental en Communauté française de Belgique
Bouchat, Thérèse - Marie; Delvaux, Bernard; Hindryckx, Geneviève ULg

in Cahiers de Recherche en Education et Formation (2008), (62),

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See detailEspace local et choix du lieu de scolarisation dans l'enseignement fondamental : le cas de trois espaces locaux urbains en Communauté française de Belgique
Delvaux, Bernard; Bouchat, Thérèse - Marie; Hindryckx, Geneviève ULg

in Cahiers de Recherche en Education et Formation (2008), (64),

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See detailPhenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15
Debray, François-Guillaume ULg; Lambert, M.; Lemieux, M. et al

in Journal of Medical Genetics (2008), 45(11), 759-764

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See detailNovel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Shama, S.; Burdon, K. P.; Dave, A. et al

in Molecular Vision (2008), 14

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See detailReduced brain choline in homocystinuria due to remethylation defects
Debray, François-Guillaume ULg; Boulanger, Y.; Khiat, A. et al

in Neurology (2008), 71(1), 44-49

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See detailCobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa. Debre type
Van Maldergem, Lionel ULg; Yuksel-Apak, M.; Kayserili, H. et al

in Neurology (2008), 71(20), 1602-1608

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See detailA position effect on TRPS1 us associated with Ambras syndrome in humans and the Koala phenotype in mice
Fantauzzo, K. A.; Tadin-Strapps, M.; You, Y. et al

in Human Molecular Genetics (2008)

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See detailPyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia
Debray, François-Guillaume ULg; Lambert, M.; Gagne, R. et al

in Neuropediatrics (2008), 39(1), 20-23

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See detailAcute tubular dysfunction wtih Fanconi syndrome : a new manifestation of mitochondrial cytopathies
Debray, François-Guillaume ULg; Merouani, A.; Lambert, M. et al

in American Journal of Kidney Diseases (2008), 51(4), 691-696

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See detailMale-biased genes are overrepresented among novel Drosophila pseudoobscura sex-biased genes.
Metta, Muralidhar ULg; Schlotterer, Christian

in BMC Evolutionary Biology (2008), 8

BACKGROUND: The origin of functional innovation is among the key questions in biology. Recently, it has been shown that new genes could arise from non-coding DNA and that such novel genes are often ... [more ▼]

BACKGROUND: The origin of functional innovation is among the key questions in biology. Recently, it has been shown that new genes could arise from non-coding DNA and that such novel genes are often involved in male reproduction. RESULTS: With the aim of identifying novel genes, we used the technique "generation of longer cDNA fragments from serial analysis of gene expression (SAGE) tags for gene identification (GLGI)" to extend 84 sex-biased 3'end SAGE tags that previously could not be mapped to the D. pseudoobscura transcriptome. Eleven male-biased and 33 female-biased GLGI fragments were obtained, of which 5 male-biased and 3 female-biased tags corresponded to putatively novel genes. This excess of novel genes with a male-biased gene expression pattern is consistent with previous results, which found novel genes to be primarily expressed in male reproductive tissues. 5' RACE analysis indicated that these novel transcripts are very short in length and could contain introns. Interspecies comparisons revealed that most novel transcripts show evidence for purifying selection. CONCLUSION: Overall, our data indicate that among sex-biased genes a considerable number of novel genes (approximately 2-4%) exist in D. pseudoobscura, which could not be predicted based on D. melanogaster gene models. [less ▲]

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See detailGenetic evidence from Indian red jungle fowl corroborates multiple domestication of modern day chicken.
Kanginakudru, Sriramana; Metta, Muralidhar ULg; Jakati, R. D. et al

in BMC Evolutionary Biology (2008), 8

BACKGROUND: Domestication of chicken is believed to have occurred in Southeast Asia, especially in Indus valley. However, non-inclusion of Indian red jungle fowl (RJF), Gallus gallus murghi in previous ... [more ▼]

BACKGROUND: Domestication of chicken is believed to have occurred in Southeast Asia, especially in Indus valley. However, non-inclusion of Indian red jungle fowl (RJF), Gallus gallus murghi in previous studies has left a big gap in understanding the relationship of this major group of birds. In the present study, we addressed this issue by analyzing 76 Indian birds that included 56 G. g. murghi (RJF), 16 G. g. domesticus (domestic chicken) and 4 G. sonneratii (Grey JF) using both microsatellite markers and mitochondrial D-loop sequences. We also compared the D-loop sequences of Indian birds with those of 779 birds obtained from GenBank. RESULTS: Microsatellite marker analyses of Indian birds indicated an average FST of 0.126 within G. g. murghi, and 0.154 within G. g. domesticus while it was more than 0.2 between the two groups. The microsatellite-based phylogenetic trees showed a clear separation of G. g. domesticus from G. g. murghi, and G. sonneratii. Mitochondrial DNA based mismatch distribution analyses showed a lower Harpending's raggedness index in both G. g. murghi (0.001515) and in Indian G. g. domesticus (0.0149) birds indicating population expansion. When meta analysis of global populations of 855 birds was carried out using median joining haplotype network, 43 Indian birds of G. g. domesticus (19 haplotypes) were distributed throughout the network sharing haplotypes with the RJFs of different origins. CONCLUSION: Our results suggest that the domestication of chicken has occurred independently in different locations of Asia including India. We found evidence for domestication of Indian birds from G. g. spadiceus and G. g. gallus as well as from G. g. murghi, corroborating multiple domestication of Indian and other domestic chicken. In contrast to the commonly held view that RJF and domestic birds hybridize in nature, the present study shows that G. g. murghi is relatively pure. Further, the study also suggested that the chicken populations have undergone population expansion, especially in the Indus valley. [less ▲]

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See detailBluetongue virus antibodies in wild red deer in southern Belgium
Linden, Annick ULg; Mousset, B.; Grégoire, Fabien ULg et al

in Veterinary Record : Journal of the British Veterinary Association (2008)

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See detailLes réseaux d’épidémiosurveillance des maladies animales en Afrique francophone de l’Ouest et du Centre
Ouagal, M.; Hendrikx, P.; Berkvens, B. et al

in Revue Scientifique et Technique (International Office of Epizootics) (2008), 27(3), 689-702

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See detailTranscatheter valve implantation for patients with aortic stenosis: a position statement from the European Association of Cardio-Thoracic Surgery (EACTS) and the European Society of Cardiology (ESC), in collaboration with the European Association of Percutaneous Cardiovascular Interventions (EAPCI).
Vahanian, Alec; Alfieri, Ottavio; Al-Attar, Nawwar et al

in European Heart Journal (2008), 29(11), 1463-70

AIMS: To critically review the available transcatheter aortic valve implantation techniques and their results, as well as propose recommendations for their use and development. METHODS AND RESULTS: A ... [more ▼]

AIMS: To critically review the available transcatheter aortic valve implantation techniques and their results, as well as propose recommendations for their use and development. METHODS AND RESULTS: A committee of experts including European Association of Cardio-Thoracic Surgery and European Society of Cardiology representatives met to reach a consensus based on the analysis of the available data obtained with transcatheter aortic valve implantation and their own experience. The evidence suggests that this technique is feasible and provides haemodynamic and clinical improvement for up to 2 years in patients with severe symptomatic aortic stenosis at high risk or with contraindications for surgery. Questions remain mainly concerning safety and long-term durability, which have to be assessed. Surgeons and cardiologists working as a team should select candidates, perform the procedure, and assess the results. Today, the use of this technique should be restricted to high-risk patients or those with contraindications for surgery. However, this may be extended to lower risk patients if the initial promise holds to be true after careful evaluation. CONCLUSION: Transcatheter aortic valve implantation is a promising technique, which may offer an alternative to conventional surgery for high-risk patients with aortic stenosis. Today, careful evaluation is needed to avoid the risk of uncontrolled diffusion. [less ▲]

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See detailTranscatheter valve implantation for patients with aortic stenosis: a position statement from the European Association of Cardio-Thoracic Surgery (EACTS) and the European Society of Cardiology (ESC), in collaboration with the European Association of Percutaneous Cardiovascular Interventions (EAPCI).
Vahanian, Alec; Alfieri, Ottavio R; Al-Attar, Nawwar et al

in European Journal of Cardio - Thoracic Surgery (2008), 34(1), 1-8

AIMS: To critically review the available transcatheter aortic valve implantation techniques and their results, as well as propose recommendations for their use and development. METHODS AND RESULTS: A ... [more ▼]

AIMS: To critically review the available transcatheter aortic valve implantation techniques and their results, as well as propose recommendations for their use and development. METHODS AND RESULTS: A committee of experts including European Association of Cardio-Thoracic Surgery and European Society of Cardiology representatives met to reach a consensus based on the analysis of the available data obtained with transcatheter aortic valve implantation and their own experience. The evidence suggests that this technique is feasible and provides haemodynamic and clinical improvement for up to 2 years in patients with severe symptomatic aortic stenosis at high risk or with contraindications for surgery. Questions remain mainly concerning safety and long-term durability, which have to be assessed. Surgeons and cardiologists working as a team should select candidates, perform the procedure, and assess the results. Today, the use of this technique should be restricted to high-risk patients or those with contraindications for surgery. However, this may be extended to lower risk patients if the initial promise holds to be true after careful evaluation. CONCLUSION: Transcatheter aortic valve implantation is a promising technique, which may offer an alternative to conventional surgery for high-risk patients with aortic stenosis. Today, careful evaluation is needed to avoid the risk of uncontrolled diffusion. [less ▲]

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See detailHighlights of the 2008 Scientific Sessions of the European Society of Cardiology Munich, Germany, August 30 to September 3, 2008.
Kristensen, Steen D; Baumgartner, Helmut; Casadei, Barbara et al

in Journal of the American College of Cardiology (2008), 52(24), 2032-42

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See detailDeterminants of an abnormal response to exercise in patients with asymptomatic valvular aortic stenosis.
Lancellotti, Patrizio ULg; Karsera, Danai; Tumminello, Gabriele et al

in European Journal of Echocardiography (2008), 9(3), 338-43

AIM: Patients with asymptomatic aortic stenosis (AS) and abnormal haemodynamic responses to exercise testing are at increased risk of cardiac events. This study assesses the Doppler echocardiographic ... [more ▼]

AIM: Patients with asymptomatic aortic stenosis (AS) and abnormal haemodynamic responses to exercise testing are at increased risk of cardiac events. This study assesses the Doppler echocardiographic determinants of a positive exercise test in a cohort of asymptomatic patients with AS. METHODS AND RESULTS: One hundred and twenty-eight patients with AS underwent quantitative Doppler echocardiographic measurements at rest and during exercise test. Of these patients, 60 had an abnormal response to exercise. Two independent determinants of an abnormal exercise response were selected in multivariate analysis: a larger increase in mean transaortic pressure gradient (P = 0.00014) and a limited contractile reserve-latent left ventricular dysfunction-as indicated by smaller changes in ejection fraction (P = 0.0002). Limiting symptoms were associated with greater increase in mean transaortic pressure gradient, smaller changes in systolic blood pressure and a lower ejection fraction at peak exercise. The increase in pressure gradient was associated with smaller exercise-induced changes in aortic valve area and in ejection fraction and new or worsening mitral regurgitation during exercise. CONCLUSION: Abnormal responses to exercise in asymptomatic AS patients are mediated by a larger increase in mean transaortic pressure gradient and/or a limited contractile reserve characterized by an inadequate increase in ejection fraction at exercise. [less ▲]

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See detailGermline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.
Mutesa, Léon; Pierquin, Geneviève ULg; Janin, Nicolas ULg et al

in Cancer Genetics & Cytogenetics (2008), 182(1), 40-2

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical craniofacial dysmorphism, skeletal anomalies, congenital heart defects, and predisposition to malignant ... [more ▼]

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical craniofacial dysmorphism, skeletal anomalies, congenital heart defects, and predisposition to malignant tumors. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene. To date, solid tumors, and particularly brain tumors and rhabdomyosarcomas, have been documented in patients with NS; however, few cases of neuroblastoma associated with NS have been reported. Here we report an unusual case of neuroblastoma with mediastinal, retroperitoneal, and medullar locations associated in a NS patient carrying a PTPN11 germline missense mutation (p.G60A). This missense mutation occurs within the N-SH2 domain of the PTPN11 gene and has been reported to be associated with acute leukemia in NS patients. The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome. [less ▲]

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