Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants.
; ; et al
in Molecular Genetics & Metabolism (2011), 102(3), 368-73
The known Gly56Ala mutation in the serotonin transporter SERT (or 5-HTT), encoded by the SLC6A4 gene, causes increased serotonin reuptake and has been associated with autism and rigid-compulsive behavior ... [more ▼]
The known Gly56Ala mutation in the serotonin transporter SERT (or 5-HTT), encoded by the SLC6A4 gene, causes increased serotonin reuptake and has been associated with autism and rigid-compulsive behavior. We report a patient with macrocephaly from birth, followed by hypotonia, developmental delay, ataxia and a diagnosis of atypical autism (PDD-NOS) in retrospect at the age of 4(1/2)years. Low levels of the serotonin end-metabolite 5-hydroxyindolacetic acid (5HIAA) in CSF were detected, and SLC6A4 gene analysis revealed the heterozygous Gly56Ala alteration and the homozygous 5-HTTLPR L/L promoter variant. These changes are reported to be responsible for elevated SERT activity and expression, suggesting that these alterations were responsible in our patient for low serotonin turnover in the central nervous system (CNS). Daily treatment with 5-hydroxytryptophan (and carbidopa) led to clinical improvement and normalization of 5HIAA, implying that brain serotonin turnover normalized. We speculate that the mutated 56Ala SERT transporter with elevated expression and basal activity for serotonin re-uptake is accompanied with serotonin accumulation within pre-synaptic axons and their vesicles in the CNS, resulting in a steady-state of lowered serotonin turnover and degradation by monoamine-oxidase (MAO) enzymes in pre-synaptic or neighboring cells. [less ▲]Detailed reference viewed: 15 (3 ULg)
Autism/book3 Sleep disorders correlated to neurophysiology in the autism spectrum
Book published by Intech (2011)
données d'hypnologie dans le spectre autistique chez l'enfantDetailed reference viewed: 31 (0 ULg)
Les auto-anticorps et le profil immunopathologique des lupus érythémateux
Nikkels, Arjen ; Tassoudji, Nazli ; Arrese Estrada, Jorge et al
in Revue Médicale de Liège (1991), 46(5), 279-285
Nous présentons une synthèse de la signification diagnostique, clinique et pronostique d'une série d'auto-anticorps apparaissant dans les diverses formes de lupus érythémateux.Detailed reference viewed: 24 (0 ULg)
Auto-assembling of ditopic macrocyclic lanthanide chelates with transition-metal ions. Rigid multimetallic high relaxivity contrast agents for magnetic resonance Imaging
Paris, Jérôme ; ; et al
in Inorganic Chemistry (2006), 45(13), 5092-5102
PhenHDO3A is a ditopic ligand featuring a tetraazacyclododecane unit substituted by three acetate arms and one 6-hydroxy-5,6-dihydro-1,10-phenanthroline group (PhenHDO3A = rel-10-[(5R,6R)-5,6-dihydro-6 ... [more ▼]
PhenHDO3A is a ditopic ligand featuring a tetraazacyclododecane unit substituted by three acetate arms and one 6-hydroxy-5,6-dihydro-1,10-phenanthroline group (PhenHDO3A = rel-10-[(5R,6R)-5,6-dihydro-6-hydroxy-1,10-phenantholin-5-yl)-1,4,7,10-tetraazacy clododecane-1,4,7-triacetic acid). This ligand was specially designed so as to obtain highly stable heteropolymetallic assemblies. PhenHDO3A has been prepared starting from phenanthroline epoxide and either a triprotected tetraazacyclododecane or tert-butyl triester of N,N',N' '-tetraazacyclododecane-triacetic acid. The latter yields PhenHDO3A in a single step. PhenHDO3A forms kinetically stable lanthanide complexes (acid-catalyzed kinetic constant kH = (1.2 +/- 0.2) x 10(-3) s(-1) M(-1)) whose solution structure has been deduced from a quantitative analysis of the paramagnetic shifts and the longitudinal relaxation times of the proton nuclei of YbPhenHDO3A. The alcohol group of the dihydro-phenanthroline unit remains coordinated to the encapsulated metal ion despite the steric crowding brought about by this group. Furthermore, the complexes are monohydrated, as shown by luminescence lifetime measurements on EuPhenHDO3A solutions. Relaxivity titrations at 20 MHz clearly indicate that the phenanthroline unit of GdPhenHDO3A is available for the spontaneous formation of highly stable tris complexes with the Fe2+ and Ni2+ ions. The water-exchange times and the rotational correlation times of GdPhenHDO3A and Fe(GdPhenHDO3A)32+ have been deduced from variable temperature 17O NMR studies and from nuclear relaxation dispersion curves. Despite rather slow water-exchange rates (taum0 = 1.0-1.2 x 10(-6) s), relaxivity gains of 90% have been observed upon the formation of the heterometallic tris complexes. The latter rotate about four times more slowly (taur0= 398 ps) than the monomeric unit (taur0 = 105 ps) and their relaxivity is, accordingly, twice as high. The relaxivity of the tris complexes between 10 and 50 MHz is comparable to relaxivities reported for Gd3+-containing dendrimers of much higher molecular weights. The high relaxivity of the tris-PhenHDO3A lanthanide complexes is attributed to their internal rigidity. [less ▲]Detailed reference viewed: 13 (1 ULg)
Auto-associantive neural networks, Part I: Replacement of missing sensor values,
Kerschen, Gaëtan ; Golinval, Jean-Claude
in 8th Internationale Conference on Recent Advances in Structural Dynamics, Southampton, 2003 (2003)Detailed reference viewed: 7 (0 ULg)
Auto-associative neural networks, Part II: Feacture extraction for non-linear model updating
Kerschen, Gaëtan ; Golinval, Jean-Claude
in 8th Internationale Conference on Recent Advances in Structural Dynamics, Southampton, 2003 (2003)Detailed reference viewed: 14 (0 ULg)
Auto-formation des utilisateurs d'une bibliothèque à l'aide d'un hyperdocument (HYPERUD)
Leclercq, Dieudonné ; Thirion, Paul ; et al
in Cahiers de la Documentation = Bladen voor Documentatie (1992), 46(2), 65-83Detailed reference viewed: 108 (34 ULg)
Auto-formation et hypermédias : qu'est-ce qu'un bon apprenant ?
Denis, Brigitte ; Leclercq, Dieudonné
in Les Cahiers d'Etudes du CUEEP (1996), (32-33), 155-161Detailed reference viewed: 24 (2 ULg)
Auto-formation et hypermédias : Qu'est-ce qu'un bon auto-apprenant ?
Leclercq, Dieudonné ; Denis, Brigitte
in Les Cahiers d’Etudes du C.U.E.E.P. (1996, November), 32-33Detailed reference viewed: 27 (1 ULg)
Auto-immune gastritis characteristics in a large series of patients with auto-immune thyroiditis.
VALDES SOCIN, Hernan Gonzalo ; ; LUTTERI, Laurence et al
in XXIVth Belgian Week of Gastroenterology 2012 - Abstract book (2012)Detailed reference viewed: 30 (5 ULg)
Auto-immunité en thyroïdologie et en gastro-entérologie
VALDES SOCIN, Hernan Gonzalo ; Beckers, Albert
Conference (2012, February 16)Detailed reference viewed: 25 (10 ULg)
Auto-observation des modalites d'apprentissage en situation de projet. Metacognition mathetique au cours de PARMs; L'universite, un espace d'innovation pedagogique ?
Leclercq, Dieudonné ; Denis, Brigitte
in Revue des Sciences de l'Education (2001), 27(2), 421-440
This article presents the training objectives (motivational, metacognitive, instrumental, and disciplinary) of a pedagogical method known as PARMs (multimedia reciprocal animation project) and procedures ... [more ▼]
This article presents the training objectives (motivational, metacognitive, instrumental, and disciplinary) of a pedagogical method known as PARMs (multimedia reciprocal animation project) and procedures for self-observation of learning as experienced by university students. The authors describe a series of didactic-mathetic activities related to training objectives, as well as those learning strategies promoted in the PARMs course. Two instruments to measure metacognitive thinking are presented: « Questionnaire on progress » and « Questionnaire on mathetical self-description ». The results of these questionnaires is then discussed. [less ▲]Detailed reference viewed: 89 (9 ULg)
Auto-représentation et auto-dérision dans le monologue comique
in Wilhem, Frank (Ed.) Le théâtre dans le théâtre, le cinéma au cinéma (1998)Detailed reference viewed: 47 (1 ULg)
Auto. & RoB. Extension Hall 5 + Bureau. Avis sur la conformité à l'Annexe 6 des normes de Base.
The plans of an extension to be build to an industrial building have been examined in order to verify that the extensioncomplies with the recommendations contained in Annex 6 "Industrial buildings" of the ... [more ▼]
The plans of an extension to be build to an industrial building have been examined in order to verify that the extensioncomplies with the recommendations contained in Annex 6 "Industrial buildings" of the Belgian Basis Norms. [less ▲]Detailed reference viewed: 13 (1 ULg)