A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.
Charlier, Carole ; ; et al
in Nature Genetics (1998), 18(1), 53-5
Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases ... [more ▼]
Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases. To address basic mechanisms for epilepsies, we have focused on one well-defined class of IGEs with an autosomal-dominant mode of inheritance: the benign familial neonatal convulsions (BFNC; refs 2,3). Genetic heterogeneity of BFNC has been observed. Two loci, EBN1 and EBN2, have been mapped by linkage analysis to chromosome 20q13 (refs 5,6) and chromosome 8q24 (refs 7,8), respectively. By positional cloning, we recently identified the gene for EBN1 as KCNQ2 (ref. 9). This gene, a voltage-gated potassium channel, based on homology, is a member of the KQT-like family. Here we describe an additional member, KCNQ3. We mapped this new gene to chromosome 8, between markers D8S256 and D8S284 on a radiation hybrid map. We screened KCNQ3 for mutations in the large BFNC family previously linked to chromosome 8q24 in the same marker interval. We found a missense mutation in the critical pore region in perfect co-segregation with the BFNC phenotype. The same conserved amino acid is also mutated in KVLQT1 (KCNQ1) in an LQT patient. KCNQ2, KCNQ3 and undiscovered genes of the same family of K+ channels are strong candidates for other IGEs. [less ▲]Detailed reference viewed: 6 (1 ULg)
Tumour necrosis factor (TNF) gene polymorphism influences TNF-alpha production in lipopolysaccharide (LPS)-stimulated whole blood cell culture in healthy humans.
Louis, Edouard ; ; Piron, Anne et al
in Clinical & Experimental Immunology (1998), 113(3), 401-406
TNF-alpha is involved in infectious and immuno-inflammatory diseases. Different individuals may have different capacities for TNF-alpha production. This might determine a predisposition to develop some ... [more ▼]
TNF-alpha is involved in infectious and immuno-inflammatory diseases. Different individuals may have different capacities for TNF-alpha production. This might determine a predisposition to develop some complications or phenotypes of these diseases. The aims of our study were to assess the inter-individual variability of TNF-alpha production and to correlate this variability to a single base pair polymorphism located at position -308 in TNF gene. We studied 62 healthy individuals. TNF-alpha production after LPS stimulation was evaluated using a whole blood cell culture model. The TNF gene polymorphism was studied by an allele-specific polymerase chain reaction. Other cytokines produced in the culture, soluble CD14 concentrations and expression of CD14 on blood cells were also measured. Among the 62 individuals, 57 were successfully genotyped. There were 41 TNF1 homozygotes and 16 TNF1/TNF2 heterozygotes. TNF-alpha production after LPS stimulation of whole blood cell culture was higher among TNF2 carriers than among TNFI homozygotes (929pg/ml (480-1473pg/ml) versus 521 pg/ ml (178-1307 pg/ml); P<0.05). This difference was even more significant after correction of TNF-alpha production for CD14 expression on blood cells. In conclusion, the single base pair polymorphism at position -308 in the TNF gene may influence TNF-alpha production in healthy individuals. [less ▲]Detailed reference viewed: 61 (11 ULg)
Les thiazolidinediones : quel avenir dans le traitement du diabète de type 2 ?
SCHEEN, André ; PAQUOT, Nicolas ; LETIEXHE, Michel et al
in Médecine et Hygiène (1998), 56Detailed reference viewed: 10 (0 ULg)
Effects of regular or lispro insulin on glucose metabolism after an oral glucose load in patients with type 2 diabetes mellitus
PAQUOT, Nicolas ; ; et al
in Diabetes (1998), 47(suppl 1), 3Detailed reference viewed: 10 (0 ULg)
Quelques repères sur le développement des lieux d'accueil de la Petite enfance en Communauté germanophone de Belgique
Conference (1998)Detailed reference viewed: 10 (2 ULg)
Construction de tarifs de cubage d'arbres pour l’aulne glutineux (Alnus glutinosa (L.) Gaertn.).
; Rondeux, Jacques ; Claessens, Hugues
in Biotechnologie, Agronomie, Société et Environnement = Biotechnology, Agronomy, Society and Environment [=BASE] (1998), 2(3), 203-213Detailed reference viewed: 27 (7 ULg)
Le grattoir-herminette dans le Groupe de Blicquy : approche expérimentale
; ; Rots, Veerle
in INTERNEO (1998), 2Detailed reference viewed: 12 (0 ULg)
Effets de l’administration d’une insuline ordinaire (regular) et d’un analogue de l’insuline (lispro) sur le métabolisme postprandial du glucose chez le sujet diabétique de type 2
PAQUOT, Nicolas ; ; et al
in Diabète & Métabolisme (1998), 24(suppl 1), 3Detailed reference viewed: 9 (0 ULg)
Scale relativity and quantization of the solar system - Orbit quantization of the planet's satellites
Hermann, Raphaël ; ;
in Astronomy and Astrophysics (1998), 335(1), 281-286
In a first paper Nottale, Schumacher and Gay have given the bases of the Scale Relativity theory applied to the gravitational field, which leads to the quantization of the solar system. In the present ... [more ▼]
In a first paper Nottale, Schumacher and Gay have given the bases of the Scale Relativity theory applied to the gravitational field, which leads to the quantization of the solar system. In the present paper we show that one more class of objects of the solar system satisfy the rule of quantization, this class including the main satellites and rings of the outer planets. We also give a classification of the satellites by rank, showing that one can predict the existence of certain orbits that are not occupied, or whose objects are not yet discovered. [less ▲]Detailed reference viewed: 7 (0 ULg)
Influence de facteurs abiotiques ou biotiques sur l'evaluation de la sensibilite d'Aphidius rhopalosiphi De Stefani-Perez a la phosalone.
; ; Schiffers, Bruno et al
in Parasitica (1998), 54(2-3),
MEAD-BRIGGS (1992) a proposé une méthode de laboratoire permettant d'évaluer la toxicité de contact d'un pesticide à l'égard d'Aphidius rhopalosiphi De Stefani-Perez, un parasitoïde des pucerons des ... [more ▼]
MEAD-BRIGGS (1992) a proposé une méthode de laboratoire permettant d'évaluer la toxicité de contact d'un pesticide à l'égard d'Aphidius rhopalosiphi De Stefani-Perez, un parasitoïde des pucerons des céréales. L'influence de l'humidité relative, de la photo période, du mode de conservation des momies ainsi que du sexe des insectes sur la sensibilité des parasitoïdes à la phosalone a été étudiée. L'humidité relative influence le plus la sensibilité des insectes lors des essais, le mode de conservation des momies se révèle important lui aussi. [less ▲]Detailed reference viewed: 11 (6 ULg)
Myasthenia gravis without chronic GVHD after allogeneic bone marrow transplantation.
Baron, Frédéric ; Sadzot, Bernard ; Wang, François-Charles et al
in Bone Marrow Transplantation (1998), 22(2), 197-200
A 20-year-old man with aplastic anemia developed myasthenia gravis (MG) 7 months after bone marrow transplantation (BMT) from an HLA one locus-mismatched sister. Proximal muscle weakness (predominant in ... [more ▼]
A 20-year-old man with aplastic anemia developed myasthenia gravis (MG) 7 months after bone marrow transplantation (BMT) from an HLA one locus-mismatched sister. Proximal muscle weakness (predominant in the lower limbs) and dysphagia occurred without any other sign of graft-versus-host disease (GVHD), 1 month after cessation of immunosuppression with cyclosporine. The diagnosis of MG was based on clinical symptoms and on neurophysiologic investigations showing a significant increase of the Jitter in single-fiber electromyography and a significant decremental response during repetitive stimulation at slow rates, but antibodies against the acetylcholine receptor (AchRab) were negative. All clinical and neurophysiological signs normalized within 1 month of treatment with low-dose prednisolone and pyridostigmine, and the patient is perfectly well 1 year after cessation of all therapy. All cases of BMT-associated MG previously published are reviewed in comparison with ours. The originality of this new observation is that this case is the only one not associated with chronic GVHD and negative for AchRab. Alternatively, MG may have been the sole manifestation of chronic GVHD in this patient. [less ▲]Detailed reference viewed: 42 (2 ULg)
La comparution du vendeur devant le tribunal d'un Etat dans le cadre d'un litige déterminé n'emporte pas renonciation dans le chef de celui-ci à se prévaloir dans le cadre d'une instance différente de la clause attributive de juridiction contenue dans ses conditions générales au profit des tribunaux d'un autre Etat
in Revue de Droit Commercial Belge [= RDC] = Tijdschrift voor Belgisch Handelsrecht [=TBH] (1998)Detailed reference viewed: 4 (0 ULg)
IUFRO guidelines for designing multipurpose resource inventories: a project of IUFRO Research group 4.02.02 Vienna
in LUND, H. Gyde (Ed.) IUFRO Guidelines for designing multipurpose resource inventories: a project of IUFRO Research group 4.02.02 Vienna: IUFRO World Series (1998)Detailed reference viewed: 16 (1 ULg)
Cell cycle-related changes in repopulating capacity of human mobilized peripheral blood CD34(+) cells in non-obese diabetic/severe combined immune-deficient mice.
GOTHOT, André ; ; et al
in Blood (1998), 92(8), 2641-9
Most primitive hematopoietic progenitor cells reside in vivo within the G0/G1 phase of the cell cycle. By simultaneous DNA/RNA staining it is possible to distinguish G0 and G1 states and to isolate cells ... [more ▼]
Most primitive hematopoietic progenitor cells reside in vivo within the G0/G1 phase of the cell cycle. By simultaneous DNA/RNA staining it is possible to distinguish G0 and G1 states and to isolate cells in defined phases of the cell cycle. We report here the use of cell cycle fractionation to separate human mobilized peripheral blood (MPB) CD34(+) cells capable of repopulating the bone marrow (BM) of non-obese diabetic/severe combined immune-deficient (NOD/SCID) mice. In freshly isolated MPB, repopulating cells were predominant within the G0 phase, because transplantation of CD34(+) cells residing in G0 (G0CD34(+)) resulted on average in a 16.6- +/- 3.2-fold higher BM chimerism than infusion of equal numbers of CD34(+) cells isolated in G1. We then investigated the effect of ex vivo cell cycle progression, in the absence of cell division, on engraftment capacity. Freshly isolated G0CD34(+) cells were activated by interleukin-3 (IL-3), stem cell factor (SCF), and flt3-ligand (FL) for a 36-hour incubation period during which a fraction of cells progressed from G0 into G1 but did not complete a cell cycle. The repopulating capacity of stimulated cells was markedly diminished compared with that of unmanipulated G0CD34(+) cells. Cells that remained in G0 during the 36-hour incubation period and those that traversed into G1 were sorted and assayed separately in NOD/SCID recipients. The repopulating ability of cells remaining in G0 was insignificantly reduced compared with that of unstimulated G0CD34(+) cells. On the contrary, CD34(+) cells traversing from G0 into G1 were largely depleted of repopulating capacity. Similar results were obtained when G0CD34(+) cells were activated by the combination of thrombopoietin-SCF-FL. These studies provide direct evidence of the quiescent nature of cells capable of repopulating the BM of NOD/SCID mice. Furthermore, these data also demonstrate that G0-G1 progression in vitro is associated with a decrease in engraftment capacity. [less ▲]Detailed reference viewed: 11 (0 ULg)
Compte rendu de N.-Y. TONNERRE, Naissance de la Bretagne
in Moyen Age (Le) (1998)Detailed reference viewed: 4 (0 ULg)
Development of an in vitro culture method of very immature embryos to assist wide interspecific hybridisation in Phaseolus.
; Baudoin, Jean-Pierre ; Mergeai, Guy
in 3rd European conference on grain legumes : Opportunities for high quality, healthy and added-value crops to meet European demands, 14-19 November 1998, Valladolid, Spain (1998)Detailed reference viewed: 11 (6 ULg)
Anemia in children with cancer is associated with decreased erythropoietic activity and not with inadequate erythropoietin production.
; Beguin, Yves ; et al
in Blood (1998), 92(5), 1793-8
A defect in erythropoietin (EPO) production has been advocated as being the main cause of anemia presented at time of diagnosis or during treatment by adults with solid tumors. On the basis of this defect ... [more ▼]
A defect in erythropoietin (EPO) production has been advocated as being the main cause of anemia presented at time of diagnosis or during treatment by adults with solid tumors. On the basis of this defect, anemic cancer patients, both adults and children, have been treated with recombinant human EPO (rHuEPO). To further elucidate the pathophysiology of anemia in children with cancer, we measured serum soluble transferrin receptor (sTfR), a quantitative marker of erythropoiesis, and serum EPO at time of diagnosis and during chemotherapy in children suffering from solid tumor or leukemia. We determined serum EPO in 111 children (55 leukemia, 56 solid tumors) at time of diagnosis. In the last 44 patients (23 leukemia and 21 solid tumors), sTfR levels were also measured. Serum EPO together with sTfR levels were also determined in 60 children receiving chemotherapy (29 leukemia, 31 solid tumors). These results were compared with those obtained from appropriate control groups. In all patients, we found a highly significant correlation between the logarithm of EPO (log[EPO]) and the hemoglobin (Hb) level. In all subsets of patients, sTfR levels were inappropriately low for the degree of anemia. Neither leukemic nor solid tumor groups showed a significant inverse relationship between log(sTfR) and the Hb level as would be expected in anemic patients with appropriate marrow response. Thus, in children with cancer, anemia is associated with a decreased total bone marrow erythropoietic activity which, in contrast to what has been reported in anemic cancer adults, is not related to defective EPO production. [less ▲]Detailed reference viewed: 21 (1 ULg)