Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.</p

Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.</p

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care

Analysis of the effect of post-forest-fire vegetation recovery on runoff. Case of a Mediterranean Basin

In August 1990 some of the subwatersheds of the Real Collobrier research and experimental basin (Var-France) were totally or partially burnt by a forest fire. The concerned catchments provide an interesting case study of the hydrological consequences of a fire. Thus, since 1990, a research program has been developed to better understand the effect of vegetation on runoff genesis during the post-fire years. This program combines yearly vegetation surveys on experimental plots, remote sensing images (SPOT images) and hydrological information. The methodology developed is based on a comparative analysis of post-fire hydrological behaviors of subcatchments, and yearly mapping of post-fire vegetation recovery by using remote sensed data. This paper presents the results obtained after 4 years of observation (1990-1994). The effect of the vegetation destruction and recovery is clearly put in evidence. First attempts to analyze, in terms of process, the post-fire hydrological behaviors of the burnt subcatchments are presented. / En août 1990, plusieurs sous-bassins versants du Réal Collobrier (Bassin Versant Expérimental et de Recherche du Cemagref ) ont été totalement ou partiellement brûlés. Ces bassins versants représentent des sites d'étude intéressants pour l'étude des conséquences hydrologiques des feux de forêt. Par conséquent, depuis 1990, un programme de recherche a été développé afin de mieux comprendre le rôle de la végétation sur la genèse des écoulements au cours des années après feu. Ce programme combine des enquêtes de terrain annuelles, des images de télédétection (images SPOT de 1990 à 1994) et des informations hydrologiques. La méthodologie développée est basée sur une analyse comparative des évolutions hydrologiques et de l'occupation du sol des bassins incendiés. Cet article présente les résultats obtenus après 4 années d'observation ( 1990 à 1994). L'effet de la destruction de la végétation et de la reprise est clairement mis en évidence

Premier conseil de guerre de Constantine : débats de l'affaire Trinquand / reproduite par C. Taupiac,...

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Structural and optical properties of LiNbO3 thin films grown by pulsed laser deposition

We report the deposition of good quality, highly textured LiNbO3 thin films on sapphire substrates using the pulsed laser deposition technique. Thin films composition and structure have been determined using Rutherford Backscattering Spectroscopy (RBS) and X-Ray Diffraction (XRD) experiments. The influence of deposition parameters such as substrate temperature and oxygen pressure on the structure of the films has been studied. To improve surface smoothness of the film, an off-axis geometry has been used. The substrate surface lies in the plane defined by the plasma plume. The optical waveguiding properties of the as-obtained films have been demonstrated by m-line measurements of transverse-magnetic and transverse-electric modes at 633 nm