Activity

in English, French Objectif La mémoire de travail (MT) est souvent en déficit chez les enfants souffrant du trouble de déficit de l’attention avec hyperactivité (TDAH) et est liée à d’autres déficiences dans cette population clinique. Cogmed, un programme informatique d’entraînement de la MT, est parfois prescrit comme traitement aux adolescents souffrant du TDAH – bien que l’efficacité de cette intervention demeure controversée. Notre principal objectif était d’explorer si le style motivationnel des adolescents souffrant du TDAH prédisait l’engagement ou le rendement à l’entraînement dans les mesures de résultat. Un deuxième objectif était d’obtenir une compréhension plus nuancée des bénéfices potentiels du programme par les entrevues. Méthode La présente étude porte sur 10 adolescents souffrant du TDAH (de 8 à 14 ans) randomisés à 30 séances modifiées du protocole Cogmed dans le cadre d’un essai clinique plus vaste. Les adolescents ont rempli un questionnaire d’autorégulation (QAR) adapté et ont participé àel et d’incorporer la méthodologie qualitative afin d’identifier les variables additionnelles du résultat de l’intervention à prendre en compte chez les adolescents souffrant du TDAH.[This corrects the article DOI 10.3389/fgene.2019.00993.]. Copyright © 2020 Srikanth, Kumar, Park, Byun, Lim, Kemp, te Pas, Kim and Park.As an intriguing class of RNA, circular RNAs (circRNAs) are vital mediators of various diseases including cancers. However, the biological role and underlying mechanism of the majority of circRNAs are still ambiguous in the progression of triple-negative breast cancer (TNBC). In this study, we characterized and further investigated hsa_circ_0009362 (circGNB1) by reanalyzing the circRNA microarray profiling in our previous study. Validating by qRT-PCR, circGNB1 was overexpressed in TNBC cell lines and high expression of circGNB1 was associated with worse clinical features and survival outcomes. The expression of circGNB1 was positively correlated with tumor size and clinical stage, and high expression of circGNB1 was an independent risk factor for TNBC patients. Cell proliferation, colony formation, wound-healing and mouse xenograft assays were carried out to investigate the functions of circGNB1. Both in vitro and in vivo assays revealed that knockdown of circGNB1 significantly suppressed cell proliferation, migration and tumor growth. Subsequently, we performed luciferase reporter assays and RNA immunoprecipitation assays to elucidate the underlying molecular mechanism of circGNB1. The results showed that circGNB1 sponges miR-141-5p and facilitates TNBC progression by upregulating IGF1R. Altogether, our study demonstrated the pivotal role of circGNB1-miR-141-5p-IGF1R axis in TNBC growth and metastasis though the mechanism of competing endogenous RNAs. Therefore, circGNB1 may have the potential to be a therapeutic target and novel prognostic biomarker for TNBC. Copyright © 2020 Liu, Zou, Li, Yang, Ye, Zhang, Wei and Kong.Background Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized primarily by the development of numerous adenomatous polyps in the colon and a high risk for colorectal cancer. selleck inhibitor FAP is caused by germline mutations of the adenomatous polyposis coli (APC) gene. The proband in this family was a 39-year-old female patient with the pathologic diagnosis of adenomatous polyps, and then a five-generation kindred with FAP was characterized in the following years. This article identified an APC mutation, and demonstrated the practical use of APC-linked STR markers, which could be used to reduce misdiagnosis of prenatal diagnosis or preimplantation genetic diagnosis resulted from contamination or allele drop-out. Methods Next-generation sequencing (NGS) was used to identify the possible APC mutations in an affected individual from a family with autosomal dominant colon cancer. Targeted sequencing then used to identify additional related individuals with the mutation. Three short tandem repeat (STR) loci, D5S299, D5S134, and D5S346, were used for PCR-based microsatellite analysis of the APC gene in the extended family. Results We identified an APC p.W553X mutation. The STR haplotype at the APC locus, A1B4C1, was shared by all clinically affected individuals with the APC p.W553X mutation. In addition, the APC p.D1822V variant was observed in 40% affected individuals and in two unaffected individuals. Conclusion We described a protein truncation mutation, APC p.W553X; demonstrated the value of APC-linked STR markers (D5S299, D5S134, and D5S346) haplotypes; and suggested the potential role of these haplotypes in detecting loss of heterozygosity of the APC gene. Copyright © 2020 Zhan, Wang, Xu, Sun, Li, Qi, Chen, Wei, Raff, Yu and Jin.Feed efficiency helps to reduce environmental impacts from livestock production, improving beef cattle profitability. We identified potential biomarkers (hub genes) for feed efficiency, by applying co-expression analysis in Longissimus thoracis RNA-Seq data from 180 Nelore steers. Six co-expression modules were associated with six feed efficiency-related traits (p-value ≤ 0.05). Within these modules, 391 hub genes were enriched for pathways as protein synthesis, muscle growth, and immune response. Trait-associated transcription factors (TFs) ELF1, ELK3, ETS1, FLI1, and TCF4, were identified with binding sites in at least one hub gene. Gene expression of CCDC80, FBLN5, SERPINF1, and OGN was associated with multiple feed efficiency-related traits (FDR ≤ 0.05) and were previously related to glucose homeostasis, oxidative stress, fat mass, and osteoblastogenesis, respectively. Potential regulatory elements were identified, integrating the hub genes with previous studies from our research group, such as the putative cis-regulatory elements (eQTLs) inferred as affecting the PCDH18 and SPARCL1 hub genes related to immune system and adipogenesis, respectively. Therefore, our analyses contribute to a better understanding of the biological mechanisms underlying feed efficiency in bovine and the hub genes disclosed can be used as biomarkers for feed efficiency-related traits in Nelore cattle. Copyright © 2020 de Lima, Koltes, Diniz, de Oliveira, Cesar, Tizioto, Afonso, de Souza, Petrini, Rocha, Cardoso, Neto, Coutinho, Mourão and Regitano.