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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. Adipose tissue transcriptome reflects variations between subjects with continued weight loss and subjects regaining weight 6 mo after caloric restriction independent of energy intake.
    Autor*in: Márquez-Quiñones, Adriana ; Mutch, David, ; Debard, Cyrille ; Wang, Ping ; Combes, Marion ; Roussel, Balbine ; Holst, Claus ; Martinez, J Alfredo ; Handjieva-Darlenska, Teodora ; Kalouskova, Pavla ; Jebb, Susan ; Babalis, Dimitris ; Pfeiffer, Andreas, ; Larsen, Thomas, ; Astrup, Arne ; Saris, Wim, ; Mariman, Edwin ; Clément, Karine ; Vidal, Hubert ; Langin, Dominique ; Viguerie, Nathalie
    Erschienen: 2010
    Verlag:  HAL CCSD ; Oxford University Press

    International audience ; BACKGROUND: The mechanisms underlying body weight evolution after diet-induced weight loss are poorly understood. OBJECTIVE: We aimed to identify and characterize differences in the subcutaneous adipose tissue (SAT)... mehr

     

    International audience ; BACKGROUND: The mechanisms underlying body weight evolution after diet-induced weight loss are poorly understood. OBJECTIVE: We aimed to identify and characterize differences in the subcutaneous adipose tissue (SAT) transcriptome of subjects with different weight changes after energy restriction-induced weight loss during 6 mo on 4 different diets. DESIGN: After an 8-wk low-calorie diet (800 kcal/d), we randomly assigned weight-reduced obese subjects from 8 European countries to receive 4 diets that differed in protein and glycemic index content. In addition to anthropometric and plasma markers, SAT biopsies were taken at the beginning [clinical investigation day (CID) 2] and end (CID3) of the weight follow-up period. Microarray analysis was used to define SAT gene expression profiles at CID2 and CID3 in 22 women with continued weight loss (successful group) and in 22 women with weight regain (unsuccessful group) across the 4 dietary arms. RESULTS: Differences in SAT gene expression patterns between successful and unsuccessful groups were mainly due to weight variations rather than to differences in dietary macronutrient content. An analysis of covariance with total energy intake as a covariate identified 1338 differentially expressed genes. Cellular growth and proliferation, cell death, cellular function, and maintenance were the main biological processes represented in SAT from subjects who regained weight. Mitochondrial oxidative phosphorylation was the major pattern associated with continued weight loss. CONCLUSIONS: The ability to control body weight loss independent of energy intake or diet composition is reflected in the SAT transcriptome. Although cell proliferation may be detrimental, a greater mitochondrial energy gene expression is suggested as being beneficial for weight control. This trial was registered at clinicaltrials.gov as NCT00390637.

     
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  3. Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
    Autor*in: Heide, Solveig ; Spentchian, Myrtille ; Valence, Stéphanie ; Buratti, Julien ; Mach, Corinne ; Lejeune, Elodie ; Olin, Valérie ; Massimello, Marta ; Lehalle, Daphné ; Mouthon, Linda ; Whalen, Sandra ; Faudet, Anne ; Mignot, Cyril ; Garel, Catherine ; Blondiaux, Eleonore ; Lefebvre, Mathilde ; Quenum-Miraillet, Geneviève ; Chantot-Bastaraud, Sandra ; Milh, Mathieu ; Bretelle, Florence ; Portes, Vincent Des ; Guibaud, Laurent ; Putoux, Audrey ; Tsatsaris, Vassili ; Spodenkiewic, Marta ; Layet, Valérie ; Dard, Rodolphe ; Mandelbrot, Laurent ; Guet, Agnès ; Moutton, Sébastien ; Gorce, Magali ; Nizon, Mathilde ; Vincent, Marie ; Beneteau, Claire ; Rocchisanni, Marie-Amélie ; Benachi, Alexandra ; Saada, Julien ; Attié-Bitach, Tania ; Guilbaud, Lucie ; Maurice, Paul ; Friszer, Stéphanie ; Jouannic, Jean-Marie ; de Villemeur, Thierry Billette ; Moutard, Marie-Laure ; Keren, Boris ; Héron, Delphine
    Erschienen: 2020
    Verlag:  HAL CCSD ; Nature Publishing Group

    International audience ; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the... mehr

     

    International audience ; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnostic yield using chromosomal microarray (CMA) and exome sequencing (ES) in cases with prenatally diagnosed isolated (iAbnCC) and nonisolated AbnCC (niAbnCC).Methods: CMA and prenatal trio ES (pES) were done on 65 fetuses with iAbnCC and niAbnCC. Only pathogenic gene variants known to be associated with AbnCC and/or intellectual disability were considered.Results: pES results were available within a median of 21.5 days (9-53 days). A pathogenic single-nucleotide variant (SNV) was identified in 12 cases (18%) and a pathogenic CNV was identified in 3 cases (4.5%). Thus, the genetic etiology was determined in 23% of cases. In all diagnosed cases, the results provided sufficient information regarding the neurodevelopmental prognosis and helped the parents to make an informed decision regarding the outcome of the pregnancy.Conclusion: Our results show the significant diagnostic and prognostic contribution of CMA and pES in cases with prenatally diagnosed AbnCC. Further prospective cohort studies with long-term follow-up of the born children will be needed to provide accurate prenatal counseling after a negative pES result.

     
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    Quelle: BASE Fachausschnitt Germanistik
    Sprache: Englisch
    Medientyp: Aufsatz aus einer Zeitschrift
    Format: Online
    Übergeordneter Titel: ISSN: 1098-3600 ; EISSN: 1530-0366 ; Genetics in Medicine ; https://www.hal.inserm.fr/inserm-03842586 ; Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
    Schlagworte: agenesis of the corpus callosum; anomaly of the corpus callosum; exome sequencing; prenatal; prenatal exome sequencing; MESH: Child; MESH: Corpus Callosum; MESH: Exome; MESH: Female; MESH: Fetus; MESH: Humans; MESH: Pregnancy; MESH: Prospective Studies; MESH: Ultrasonography; [SDV]Life Sciences [q-bio]; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
  4. 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
  5. 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
  6. 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]