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  1. Bilateral pallidal deep brain stimulation for the treatment of patients with dystonia-choreoathetosis cerebral palsy: a prospective pilot study.
    Autor*in: Vidailhet, Marie ; Yelnik, Jerome ; Lagrange, Christelle ; Fraix, Valerie ; Grabli, David ; Thobois, Stephane ; Burbaud, Pierre ; Welter, Marie-Laure ; Xie-Brustolin, Jin ; Braga, Maria-Clara Coelho ; Ardouin, Claire ; Czernecki, Virginie ; Klinger, Hélène ; Chabardes, Stephan, ; Seigneuret, Eric ; Mertens, Patrick ; Cuny, Emmanuel ; Navarro, Soledad ; Cornu, Philippe ; Benabid, Alim-Louis ; Le Bas, Jean-Francois ; Dormont, Didier ; Hermier, Marc ; Dujardin, Kathy ; Blond, Serge ; Krystkowiak, Pierre ; Destée, Alain ; Bardinet, Eric ; Agid, Yves ; Krack, Paul ; Broussolle, Emmanuel ; Pollak, Pierre
    Erschienen: 2009
    Verlag:  HAL CCSD ; Elsevier

    International audience ; BACKGROUND: Cerebral palsy (CP) with dystonia-choreoathetosis is a common cause of disability in children and in adults, and responds poorly to medical treatment. Bilateral pallidal deep brain stimulation (BP-DBS) of the... mehr

     

    International audience ; BACKGROUND: Cerebral palsy (CP) with dystonia-choreoathetosis is a common cause of disability in children and in adults, and responds poorly to medical treatment. Bilateral pallidal deep brain stimulation (BP-DBS) of the globus pallidus internus (GPi) is an effective treatment for primary dystonia, but the effect of this reversible surgical procedure on dystonia-choreoathetosis CP, which is a subtype of secondary dystonia, is unknown. Our aim was to test the effectiveness of BP-DBS in adults with dystonia-choreoathetosis CP. METHODS: We did a multicentre prospective pilot study of BP-DBS in 13 adults with dystonia-choreoathetosis CP who had no cognitive impairment, little spasticity, and only slight abnormalities of the basal ganglia on MRI. The primary endpoint was change in the severity of dystonia-choreoathetosis after 1 year of neurostimulation, as assessed with the Burke-Fahn-Marsden dystonia rating scale. The accuracy of surgical targeting to the GPi was assessed masked to the results of neurostimulation. Analysis was by intention to treat. FINDINGS: The mean Burke-Fahn-Marsden dystonia rating scale movement score improved from 44.2 (SD 21.1) before surgery to 34.7 (21.9) at 1 year post-operatively (p=0.009; mean improvement 24.4 [21.1]%, 95% CI 11.6-37.1). Functional disability, pain, and mental health-related quality of life were significantly improved. There was no worsening of cognition or mood. Adverse events were related to stimulation (arrest of the stimulator in one patient, and an adjustment to the current intensity in four patients). The optimum therapeutic target was the posterolateroventral region of the GPi. Little improvement was seen when the neurostimulation diffused to adjacent structures (mainly to the globus pallidus externus [GPe]). INTERPRETATION: Bilateral pallidal neurostimulation could be an effective treatment option for patients with dystonia-choreoathetosis CP. However, given the heterogeneity of motor outcomes and the small sample size, results should be ...

     
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    Quelle: BASE Fachausschnitt Germanistik
    Sprache: Englisch
    Medientyp: Aufsatz aus einer Zeitschrift
    Format: Online
    Übergeordneter Titel: ISSN: 1474-4422 ; EISSN: 1474-4465 ; The Lancet Neurology ; https://www.hal.inserm.fr/inserm-00536375 ; The Lancet Neurology, 2009, 8 (8), pp.709-17. ⟨10.1016/S1474-4422(09)70151-6⟩
    Schlagworte: MESH: Adult; MESH: Athetosis; MESH: Young Adult; MESH: Basal Ganglia; MESH: Cerebral Palsy; MESH: Chorea; MESH: Deep Brain Stimulation; MESH: Disability Evaluation; MESH: Dystonia; MESH: Female; MESH: Functional Laterality; MESH: Globus Pallidus; MESH: Humans; MESH: Magnetic Resonance Imaging; MESH: Male; MESH: Pilot Projects; MESH: Prospective Studies; MESH: Severity of Illness Index; MESH: Statistics; Nonparametric; [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
  2. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
    Autor*in: Nambot, Sophie ; Faivre, Laurence ; Mirzaa, Ghayda ; Thevenon, Julien ; Bruel, Ange-Line ; Mosca-Boidron, Anne-Laure ; Masurel-Paulet, Alice ; Goldenberg, Alice ; Le Meur, Nathalie ; Charollais, Aude ; Mignot, Cyril ; Petit, Florence ; Rossi, Massimiliano ; Metreau, Julia ; Layet, Valérie ; Amram, Daniel ; Boute-Bénéjean, Odile ; Bhoj, Elizabeth ; Cousin, Margot ; Kruisselbrink, Teresa ; Lanpher, Brendan ; Klee, Eric ; Fiala, Elise ; Grange, Dorothy ; Meschino, Wendy ; Hiatt, Susan ; Cooper, Gregory ; Olivié, Hilde ; Smith, Wendy ; Dumas, Meghan ; Lehman, Anna ; Inglese, Cara ; Nizon, Mathilde ; Guerrini, Renzo ; Vetro, Annalisa ; Kaplan, Eitan ; Miramar, Dolores ; van Gils, Julien ; Fergelot, Patricia ; Bodamer, Olaf ; Herkert, Johanna ; Pajusalu, Sander ; Õunap, Katrin ; Filiano, James ; Smol, Thomas ; Piton, Amélie ; Gérard, Bénédicte ; Chantot-Bastaraud, Sandra ; Bienvenu, Thierry ; Li, Dong ; Juusola, Jane ; Devriendt, Koen ; Bilan, Frederic ; Poé, Charlotte ; Chevarin, Martin ; Jouan, Thibaud ; Tisserant, Emilie ; Rivière, Jean-Baptiste ; Tran Mau-Them, Frédéric ; Philippe, Christophe ; Duffourd, Yannis ; Dobyns, William ; Hevner, Robert ; Thauvin-Robinet, Christel
    Erschienen: 2020
    Verlag:  HAL CCSD ; Nature Publishing Group

    International audience ; TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for... mehr

     

    International audience ; TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands.

     
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    Quelle: BASE Fachausschnitt Germanistik
    Sprache: Englisch
    Medientyp: Aufsatz aus einer Zeitschrift
    Format: Online
    Übergeordneter Titel: ISSN: 1018-4813 ; EISSN: 1476-5438 ; European Journal of Human Genetics ; https://www.hal.inserm.fr/inserm-03846561 ; European Journal of Human Genetics, 2020, 28 (6), pp.770-782. ⟨10.1038/s41431-020-0571-6⟩
    Schlagworte: MESH: Adolescent; MESH: Adult; MESH: Hippocampus; MESH: Humans; MESH: Intellectual Disability; MESH: Male; MESH: Mice; MESH: Mutation; MESH: Neocortex; MESH: Phenotype; MESH: Syndrome; MESH: T-Box Domain Proteins; MESH: Animals; MESH: Autistic Disorder; MESH: Child; Preschool; MESH: Cognition; MESH: Craniofacial Abnormalities; MESH: Female; [SDV]Life Sciences [q-bio]; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
  3. Sodium oxybate for the maintenance of abstinence in alcohol-dependent patients: An international, multicenter, randomized, double-blind, placebo-controlled trial
    Autor*in: Guiraud, Julien ; Addolorato, Giovanni ; Antonelli, Mariangela ; Aubin, Henri-Jean ; de Bejczy, Andrea ; Benyamina, Amine ; Cacciaglia, Roberto ; Caputo, Fabio ; Dematteis, Maurice ; Ferrulli, Anna ; Goudriaan, Anna, ; Gual, Antoni ; Lesch, Otto-Michael ; Maremmani, Icro ; Mirijello, Antonio ; Nutt, David, ; Paille, François ; Perney, Pascal ; Poulnais, Roch ; Raffaillac, Quentin ; Rehm, Jürgen ; Rolland, Benjamin ; Rotondo, Claudia ; Scherrer, Bruno ; Simon, Nicolas ; Skala, Katrin ; Söderpalm, Bo ; Somaini, Lorenzo ; Sommer, Wolfgang, ; Spanagel, Rainer ; Vassallo, Gabriele, ; Walter, Henriette ; van den Brink, Wim
    Erschienen: 2022
    Verlag:  HAL CCSD ; SAGE Publications

    International audience ; Background: Sodium oxybate (SMO) has been shown to be effective in the maintenance of abstinence (MoA) in alcohol-dependent patients in a series of small randomized controlled trials (RCTs). These results needed to be... mehr

     

    International audience ; Background: Sodium oxybate (SMO) has been shown to be effective in the maintenance of abstinence (MoA) in alcohol-dependent patients in a series of small randomized controlled trials (RCTs). These results needed to be confirmed by a large trial investigating the treatment effect and its sustainability after medication discontinuation. Aims: To confirm the SMO effect on (sustained) MoA in detoxified alcohol-dependent patients. Methods: Large double-blind, randomized, placebo-controlled trial in detoxified adult alcohol-dependent outpatients (80% men) from 11 sites in four European countries. Patients were randomized to 6 months SMO (3.3–3.9 g/day) or placebo followed by a 6-month medication-free period. Primary outcome was the cumulative abstinence duration (CAD) during the 6-month treatment period defined as the number of days with no alcohol use. Secondary outcomes included CAD during the 12-month study period. Results: Of the 314 alcohol-dependent patients randomized, 154 received SMO and 160 received placebo. Based on the pre-specified fixed-effect two-way analysis of variance including the treatment-by-site interaction, SMO showed efficacy in CAD during the 6-month treatment period: mean difference +43.1 days, 95% confidence interval (17.6–68.5; p = 0.001). Since significant heterogeneity of effect across sites and unequal sample sizes among sites ( n = 3–66) were identified, a site-level random meta-analysis was performed with results supporting the pre-specified analysis: mean difference +32.4 days, p = 0.014. The SMO effect was sustained during the medication-free follow-up period. SMO was well-tolerated. Conclusions: Results of this large RCT in alcohol-dependent patients demonstrated a significant and clinically relevant sustained effect of SMO on CAD. Trial registration: ClinicalTrials.gov Identifier: NCT04648423

     
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    Quelle: BASE Fachausschnitt Germanistik
    Sprache: Englisch
    Medientyp: Aufsatz aus einer Zeitschrift
    Format: Online
    Übergeordneter Titel: ISSN: 0269-8811 ; EISSN: 1461-7285 ; Journal of Psychopharmacology ; https://www.hal.inserm.fr/inserm-04057658 ; Journal of Psychopharmacology, 2022, 36 (10), pp.1136-1145. ⟨10.1177/02698811221104063⟩
    Schlagworte: Alcohol dependence; GHB; RCT; Alcohol use disorders; Maintenance of abstinence; Sodium oxybate; MESH: Adult; MESH: Alcohol Drinking; MESH: Alcoholism; MESH: Double-Blind Method; MESH: Ethanol; MESH: Female; MESH: Humans; MESH: Male; MESH: Sodium Oxybate; MESH: Treatment Outcome; [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]; [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health; [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology
    Lizenz:

    creativecommons.org/licenses/by/ ; info:eu-repo/semantics/OpenAccess
  4. Endarterectomy versus stenting in patients with symptomatic severe carotid stenosis.
    Autor*in: Mas, Jean-Louis ; Chatellier, Gilles ; Beyssen, Bernard ; Branchereau, Alain ; Moulin, Thierry ; Becquemin, Jean-Pierre ; Larrue, Vincent ; Lièvre, Michel ; Leys, Didier ; Bonneville, Jean-François ; Watelet, Jacques ; Pruvo, Jean-Pierre ; Albucher, Jean-François ; Viguier, Alain ; Piquet, Philippe ; Garnier, Pierre ; Viader, Fausto ; Touzé, Emmanuel ; Giroud, Maurice ; Hosseini, Hassan ; Pillet, Jean-Christophe ; Favrole, Pascal ; Neau, Jean-Philippe ; Ducrocq, Xavier ; Renseigné, Non
    Erschienen: 2006
    Verlag:  HAL CCSD ; Massachusetts Medical Society

    International audience ; BACKGROUND: Carotid stenting is less invasive than endarterectomy, but it is unclear whether it is as safe in patients with symptomatic carotid-artery stenosis. METHODS: We conducted a multicenter, randomized, noninferiority... mehr

     

    International audience ; BACKGROUND: Carotid stenting is less invasive than endarterectomy, but it is unclear whether it is as safe in patients with symptomatic carotid-artery stenosis. METHODS: We conducted a multicenter, randomized, noninferiority trial to compare stenting with endarterectomy in patients with a symptomatic carotid stenosis of at least 60%. The primary end point was the incidence of any stroke or death within 30 days after treatment. RESULTS: The trial was stopped prematurely after the inclusion of 527 patients for reasons of both safety and futility. The 30-day incidence of any stroke or death was 3.9% after endarterectomy (95% confidence interval [CI], 2.0 to 7.2) and 9.6% after stenting (95% CI, 6.4 to 14.0); the relative risk of any stroke or death after stenting as compared with endarterectomy was 2.5 (95% CI, 1.2 to 5.1). The 30-day incidence of disabling stroke or death was 1.5% after endarterectomy (95% CI, 0.5 to 4.2) and 3.4% after stenting (95% CI, 1.7 to 6.7); the relative risk was 2.2 (95% CI, 0.7 to 7.2). At 6 months, the incidence of any stroke or death was 6.1% after endarterectomy and 11.7% after stenting (P=0.02). There were more major local complications after stenting and more systemic complications (mainly pulmonary) after endarterectomy, but the differences were not significant. Cranial-nerve injury was more common after endarterectomy than after stenting. CONCLUSIONS: In this study of patients with symptomatic carotid stenosis of 60% or more, the rates of death and stroke at 1 and 6 months were lower with endarterectomy than with stenting. (ClinicalTrials.gov number, NCT00190398 [ClinicalTrials.gov].).

     
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    Quelle: BASE Fachausschnitt Germanistik
    Sprache: Englisch
    Medientyp: Aufsatz aus einer Zeitschrift
    Format: Online
    Übergeordneter Titel: ISSN: 0028-4793 ; EISSN: 1533-4406 ; New England Journal of Medicine ; https://hal-ujm.archives-ouvertes.fr/ujm-00440338 ; New England Journal of Medicine, 2006, 355 (16), pp.1660-71. ⟨10.1056/NEJMoa061752⟩
    Schlagworte: MESH: Aged; MESH: Angioplasty; MESH: Carotid Stenosis; MESH: Endarterectomy; Carotid; MESH: Female; MESH: Follow-Up Studies; MESH: Humans; MESH: Incidence; MESH: Male; MESH: Myocardial Infarction; MESH: Risk; MESH: Stents; MESH: Stroke; MESH: Treatment Outcome; [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology; [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]