22,672,942 research outputs found
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
No full textAn Author Correction to this article was published on 15 February 2019 An Author Correction to this article was published on 02 May 2019 We thank all individuals and families for their contribution. We thank Amaia Carrión Castillo and Else Eising for assistance with the WGS analysis of the index individual, and Sarah Graham and Elliot Sollis for cloning the wild-type CHD3 construct for immunofluorescence. This work was supported by the Netherlands Organization for Scientific Research (NWO) Gravitation Grant 24.001.006 to the Language in Interaction Consortium (L.S.B., S.E.F., and H.G.B.), the Max Planck Society (S.E.F.), the National Institute on Deafness and Other Communication Disorders Grant DC000496 (L.Sh.) and a core grant to the Waisman Center from the National Institute of Child Health and Human Development (Grant U54 HD090256) to L.Sh., the Canadian Institutes of Health Research Grants MOP-119595 and PJT-148830 to W.T.G. Individuals 11, 16, 24, and 28 were part of The DDD Study cohort. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund [Grant number HICF-1009-003], a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute [Grant number WT098051]. The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The DDD study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12, granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.Peer reviewe
Ohio Retirement Study Council comparative performance study
No full textSemiannual; -Apr. 17, 2002.; Description based on Jun. 20, 2000 issue; title from cover of PDF document (viewed Feb. 13, 2006).; Vol. for Oct. 10, 2001 - Apr. 17, 2002 prepared by Milliman USA.; Chronological designation based on date of publication.; Harvested from the web on 2/16/06Report for period ending Dec. 31, 1999
Análise do padrão de consumo dos antimicrobianos no Hospital Universitário da Universidade Federal de Santa Catarina no período de 2000 a 2006
No full textDissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Farmácia, Florianópolis, 2008O conhecimento sobre os aspectos relacionados à utilização dos antimicrobianos pode subsidiar a elaboração de políticas de utilização, bem como contribuir para a reorientação das estratégias utilizadas no controle desses agentes. Objetivo: Descrever quantitativamente o padrão de consumo de antimicrobianos no Hospital Universitário da Universidade Federal de Santa Catarina, no período de 2000 a 2006. Método: A pesquisa adotou a metodologia ATC/DDD e seguiu o modelo de estudo descritivo, com coleta de dados retrospectiva no período de 2000 a 2006, sendo os resultados expressos em DDD/100 leitos/dia. Os dados de consumo dos antimicrobianos foram obtidos a partir dos registros de dispensação desses medicamentos, disponibilizados pelo Serviço de Farmácia. Os dados referentes à ocupação hospitalar, foram obtidos por meio do Serviço de Prontuário do Paciente. Os valores correspondentes a DDD (dose diária definida) de cada fármaco foram obtidos por meio do Índice ATC/DDD, versão 2007. A análise das tendências de variação no consumo dos antimicrobianos foi realizada por regressão linear simples, e os valores de P <0,05 foram considerados estatisticamente significantes. Resultados: Os resultados mostraram um aumento de 50% no consumo global dos antimicrobianos, passando de 64,3 DDD/100 leitos/dia, em 2000, para 96,8 DDD/100 leitos/dia, em 2006, correspondendo a uma média de 70,58 DDD/100 leitos/dia no período. Os antimicrobianos mais consumidos corresponderam à classe das penicilinas (30,8%), seguidas por cefalosporinas (25,5%) e quinolonas (11,3%). Estes grupos foram responsáveis por 67% do consumo dos antimicrobianos. As demais classes de antimicrobianos utilizadas foram sulfonamidas e antissépticos urinários (6,9%), antifúngicos (5,8%), nitroimidazólicos (4,9%), aminoglicosídeos (4,1%), lincosamidas (4,1%), glicopeptídeos (2,3%), carbapenêmicos (2,2%), macrolídeos (1,1%), tetraciclinas (0,4%), antivirais (0,3%), anfenicóis (0,1%), polimixinas (0,002%) e monobactâmicos (0,001%). O fármaco mais consumido no período de estudo foi a ceftriaxona (6,25 DDD/100 leitos/dia), seguido por ampicilina + sulbactam (5,04 DDD/100 leitos/dia), benzilpenicilina potássica (4,14 DDD/100 leitos/dia), cefazolina (3,78 DDD/100 leitos/dia) e metronidazol de uso parenteral (3,20 DDD/100 leitos/dia). A análise por regressão linear simples mostrou um grupo de 12 fármacos com tendência a aumento no uso e um outro grupo de 12 agentes com tendência à redução de consumo. Conclusões: O consumo de antimicrobianos apresentou oscilações importantes e aumentou expressivamente no período estudado. Diante da importância do uso racional desses agentes, há necessidade de uma reorientação das estratégias adotadas para o controle desses medicamentos, bem como da realização de estudos complementares que possam orientar a implementação de ações voltadas ao monitoramento contínuo dos antimicrobianos no hospital
Ohio Retirement Study Council comparative performance study, period ending 6/30/2002
No full textSemiannual; Nov. 13, 2000-; Title from cover of PDF document (viewed Feb. 13, 2006).; Vol. for 2002-2003 prepared by Milliman USA; vol. for 2004- prepared by Evaluation Associates.; Some vol. also called quarters.; Chronological designation based on date of publication.; Harvested from the web on 2/16/06Report for period ending June 30, 2002
Ohio Retirement Study Council comparative performance study, period ending Dec. 31, 2002
No full textSemiannual; Nov. 13, 2000-; Title from cover of PDF document (viewed Feb. 13, 2006).; Vol. for 2002-2003 prepared by Milliman USA; vol. for 2004- prepared by Evaluation Associates.; Some vol. also called quarters.; Chronological designation based on date of publication.; Harvested from the web on 2/16/0
DDD
No full textIn the environment with and without obstacles, the distance
deviation to the target and the distance deviation to the two nearest neighbors
obtained after 30 simulations of 500 steps each time by ADM, LCPSO, SMCH,
ADM_VFH, LCPSO_VFH, SMCH_MWF, ADM_VFH_CDTA, ADM_VFH_GDTA, LCPSO_VFH_CDTA,
LCPSO_VFH_GDTA, and SMCH_MWF_MSTA algorithms.</p
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
No full textWhereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression and a severe phenotype. Contrastingly, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay and encode truncated proteins, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability
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