7 research outputs found

    Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009

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    <p>Abstract</p> <p>Objective</p> <p>To document the epidemiological, clinical, histological and radiological characteristics of aggressive vascular abnormalities of bone in children.</p> <p>Study design</p> <p>Correspondents of the French Society of Childhood Malignancies were asked to notify all cases of aggressive vascular abnormalities of bone diagnosed between January 1988 and September 2009.</p> <p>Results</p> <p>21 cases were identified; 62% of the patients were boys. No familial cases were observed, and the disease appeared to be sporadic. Mean age at diagnosis was 8.0 years [0.8-16.9 years]. Median follow-up was 3 years [0.3-17 years]. The main presenting signs were bone fracture (n = 4) and respiratory distress (n = 7), but more indolent onset was observed in 8 cases. Lung involvement, with lymphangiectasies and pleural effusion, was the most frequent form of extraosseous involvement (10/21). Bisphosphonates, alpha interferon and radiotherapy were used as potentially curative treatments. High-dose radiotherapy appeared to be effective on pleural effusion but caused major late sequelae, whereas antiangiogenic drugs like alpha interferon and zoledrenate have had a limited impact on the course of pulmonary complications. The impact of bisphosphonates and alpha interferon on bone lesions was also difficult to assess, owing to insufficient follow-up in most cases, but it was occasionally positive. Six deaths were observed and the overall 10-year mortality rate was about 30%. The prognosis depended mainly on pulmonary and spinal complications.</p> <p>Conclusion</p> <p>Aggressive vascular abnormalities of bone are extremely rare in childhood but are lifethreatening. The impact of anti-angiogenic drugs on pulmonary complications seems to be limited, but they may improve bone lesions.</p

    Highlights From the Annual Meeting of the American Epilepsy Society 2022

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    With more than 6000 attendees between in-person and virtual offerings, the American Epilepsy Society Meeting 2022 in Nashville, felt as busy as in prepandemic times. An ever-growing number of physicians, scientists, and allied health professionals gathered to learn a variety of topics about epilepsy. The program was carefully tailored to meet the needs of professionals with different interests and career stages. This article summarizes the different symposia presented at the meeting. Basic science lectures addressed the primary elements of seizure generation and pathophysiology of epilepsy in different disease states. Scientists congregated to learn about anti-seizure medications, mechanisms of action, and new tools to treat epilepsy including surgery and neurostimulation. Some symposia were also dedicated to discuss epilepsy comorbidities and practical issues regarding epilepsy care. An increasing number of patient advocates discussing their stories were intertwined within scientific activities. Many smaller group sessions targeted more specific topics to encourage member participation, including Special Interest Groups, Investigator, and Skills Workshops. Special lectures included the renown Hoyer and Lombroso, an ILAE/IBE joint session, a spotlight on the impact of Dobbs v. Jackson on reproductive health in epilepsy, and a joint session with the NAEC on coding and reimbursement policies. The hot topics symposium was focused on traumatic brain injury and post-traumatic epilepsy. A balanced collaboration with the industry allowed presentations of the latest pharmaceutical and engineering advances in satellite symposia

    Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87 740 individuals

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    Variance in IQ is associated with a wide range of health outcomes, and 1% of the population are affected by intellectual disability. Despite a century of research, the fundamental neural underpinnings of intelligence remain unclear. We integrate results from genome-wide association studies (GWAS) of intelligence with brain tissue and single cell gene expression data to identify tissues and cell types associated with intelligence. GWAS data for IQ (N = 78,308) were meta-analyzed with a study comparing 1247 individuals with mean IQ ~170 to 8185 controls. Genes associated with intelligence implicate pyramidal neurons of the somatosensory cortex and CA1 region of the hippocampus, and midbrain embryonic GABAergic neurons. Tissue-specific analyses find the most significant enrichment for frontal cortex brain expressed genes. These results suggest specific neuronal cell types and genes may be involved in intelligence and provide new hypotheses for neuroscience experiments using model systems

    Quelle Ă©ducation avec la Covid-19

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    APPEL A CONTRIBUTION : QUE NOUS APPREND LA PANDEMIE? NumĂ©ro HS Recherches et Educations (Juillet 2020) (HCERES 70Ăšme section) Qu'est ce que la pandĂ©mie nous apprend de nos sociĂ©tĂ©s, de nos politiques de santĂ© publique, des souverainetĂ©s Ă©pistĂ©mologiques de la recherche et des praxis individuelles et collectives? SolidaritĂ©s ou/ et d'exclusions? StratĂ©gies d'adaptation au confinement ou de rejet? Comment agit-on dans ce monde incertain, soumis Ă  l'autoritĂ© des politiques de gestion d'un virus? Soumission volontaire Ă  l'autoritĂ© ou organisation des rĂ©sistances? Quels sont les savoirs exercĂ©s sur quels pouvoirs ? Quelles sont les lĂ©gitimitĂ©s et les responsabilitĂ©s plurielles : individuelles, collectives, politiques et sociales ? Quels sont les usages sociaux et politiques des rĂ©sultats de la recherche des experts ? Qu’apprenons nous des expĂ©riences de prĂ©vention individuelles, europĂ©ennes et internationales ? Comment s’exercent les pouvoirs Ă  partir des savoirs des Ă©pistĂ©mologies et des Ă©vidence-base medecine ? Comment l’histoire des Ă©pidĂ©mies pourrait rĂ©pondre Ă  notre prĂ©sent ? Quel futur pour notre sociĂ©tĂ© aprĂšs la pandĂ©mie ? Quelles seront nos inĂ©galitĂ©s sociales ? Vers quelles Ă©cologies ? Quelles rĂ©sistances ? Quel mode de vie ? Quelles expĂ©riences corporelles de l’absence de toucher et de la distanciation ? Quelle croissance ? Quelle dĂ©croissance ? Quelles solidaritĂ©s face Ă  la techno-Ă©conomique ? La revue Recherches & Educations lance un appel Ă  contribution, multi disciplinaire, sur le « dispositif covid 19 » pendant le confinement imposĂ© aux populations. Elle propose de rĂ©unir les textes critiques et rĂ©flexifs sur ce que nous apprend l’épidĂ©mie et la pandĂ©mie de nous mĂȘme, de notre relation au vivant, Ă  la mondialisation nĂ©olibĂ©rale, aux souverainetĂ©s de santĂ©, au gouvernement des corps, de la psychĂ© et de la vie, aux politiques de prĂ©vention, aux reprĂ©sentations de l’épidĂ©mie, aux pratiques corporelles visuelles et tactiles, aux modes de rĂ©sistances et aux praxis du quotidien du prĂ©sent et de demain. Texte Ă  adresser (avant le 30 mai 2020) en 30.000 signes Ă  [email protected] [email protected] [email protected]
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