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  • Frontiers Media SA  (4)
  • 1
    Online Resource
    Online Resource
    The incidence and clinical characteristics of fragile X syndrome in China
    Frontiers Media SA ; 2023
    In:  Frontiers in Pediatrics Vol. 11 ( 2023-2-13)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 11 ( 2023-2-13)
    Abstract: Fragile X syndrome (FXS) is a X-linked neurodevelopmental disorder (NDD). This study aims to investigate the incidence of FXS in Chinese children and analyze the comprehensive clinical characteristics of these FXS children. Methods Children diagnosed with idiopathic NDD were recruited between 2016 and 2021 from the department of Child Health Care, Children's Hospital of Fudan University. We combined tetraplet-primed PCR-capillary electrophoresis and whole exome sequencing (WES)/panel or array-based comparative genomic hybridization (array-CGH) to identify the size of the CGG repeats and the mutations or copy number variations (CNVs) in the genome and in FMR1 . The clinical features of FXS children were analyzed according to pediatricians' recording, parental questionnaires, the results of examinations and follow-up. Results The incidence of FXS in Chinese children with idiopathic NDD was 2.4% (42/1753) and in those with FXS, 2.38% had a deletion (1/42). Here, we present the clinical characteristics of 36 children with FXS. Overweight was observed in two boys. The average intelligence quotient (IQ)/development quotient (DQ) of all FXS patients was 48. The average ages of meaningful words and walking alone were 2 years and 10 months and 1 year and 7 months, respectively. The most frequent repetitive behavior was stimulated by hyperarousal to sensory stimulation. On social aspects, social withdrawal, social anxiety, and shyness accounted for 75%, 58%, and 56% of the total number of children, respectively. Approximately 60% of FXS children in this cohort were emotionally labile and prone to temper tantrums. Self-injury and aggression toward others could also be observed, at 19% and 28%, respectively. The most frequent behavioral problem was attention-deficit hyperactivity disorder (ADHD) seen in 64% and the most common facial features were a narrow and elongated face and large or prominent ears in 92% of patients. Discussion Screening of FMR1 full mutation provides the possibility for patients' further medical supports and the clinical features of FXS children obtained in this study will increase the understanding and diagnosis of FXS.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    DOI: 10.3389/fped.2023.1064104
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2711999-3
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  • 2
    Online Resource
    Online Resource
    Table2.docx
    Frontiers Media SA ; 2022
    In:  Frontiers in Genetics Vol. 13 ( 2022-11-2)
    Details
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 13 ( 2022-11-2)
    Abstract: Background: Although neoadjuvant chemotherapy (NAC) has become the standard treatment option for muscle invasive bladder carcinoma (MIBC), its application is still limited because of the lack of biomarkers for NAC prediction. Methods: We conducted a territory multicenter real-world study to summarize NAC practice in China and its associated clinicopathologic variables with NAC response. Then, we developed and validated a robust gene-based signature for accurate NAC prediction using weighted correlation network analysis (WGCNA), the least absolute shrinkage and selector operation (LASSO) algorithm, a multivariable binary logistic regression model, and immunohistochemistry (IHC). Results: In total, we collected 69 consecutive MIBC patients treated with NAC from four clinical centers. The application of NAC in the real world was relatively safe, with only two grade Ⅳ and seven grade Ⅲ AEs and no treatment-related deaths being reported. Among these patients, 16 patients gave up surgery after NAC, leaving 53 patients for further analysis. We divided them into pathological response and non-response groups and found that there were more patients with a higher grade and stage in the non-response group. Patients with a pathological response could benefit from a significant overall survival (OS) improvement. In addition, univariate and multivariate logistic analyses indicated that tumor grade and clinical T stage were both independent factors for predicting NAC response. Importantly, we developed and validated a five-gene-based risk score for extremely high predictive accuracy for NAC response. Conclusion: NAC was relatively safe and could significantly improve OS for MIBC patients in the real-world practice. Our five-gene-based risk score could guide personalized therapy and promote the application of NAC.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fgene.2022.1047481
    DOI: 10.3389/fgene.2022.1047481.s001
    DOI: 10.3389/fgene.2022.1047481.s002
    DOI: 10.3389/fgene.2022.1047481.s003
    DOI: 10.3389/fgene.2022.1047481.s004
    DOI: 10.3389/fgene.2022.1047481.s005
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2606823-0
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  • 3
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    Online Resource
    A Data-Driven Genetic Algorithm for Power Flow Optimization in the Power System With Phase Shifting Transformer
    Frontiers Media SA ; 2022
    In:  Frontiers in Energy Research Vol. 9 ( 2022-1-31)
    Details
    In: Frontiers in Energy Research, Frontiers Media SA, Vol. 9 ( 2022-1-31)
    Abstract: Phase-shifting transformer (PST) is one of the flexible AC transmission technologies to solve the problem of uneven power transmission. Considering that PST can also be used as a regulation means for the economic operation of the system, it is necessary to study the power flow optimization of power systems with PST. In order to find a more efficient power flow optimization method, an improved genetic algorithm including a data-driven module is proposed. This method uses the deep belief network (DBN) to train the sample set of the power flow and obtains a high-precision proxy model. Then, the calculation of the DBN model replaces the traditional adaptation function calculation link which is very time-consuming due to a great quantity of AC power flow solution work. In addition, the sectional power flow reversal elimination mechanism in the genetic algorithm is introduced and appropriately co-designed with DBN to avoid an unreasonable power flow distribution of the grid section with PST. Finally, by comparing with the traditional model-driven genetic algorithm and traditional mathematical programming method, the feasibility and the validity of the method proposed in this paper are verified on the IEEE 39-node system.
    Type of Medium: Online Resource
    ISSN: 2296-598X
    URL: Article
    DOI: 10.3389/fenrg.2021.793686
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2733788-1
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  • 4
    Online Resource
    Online Resource
    Data_Sheet_1.docx
    Frontiers Media SA ; 2020
    In:  Frontiers in Plant Science Vol. 11 ( 2020-6-23)
    Details
    In: Frontiers in Plant Science, Frontiers Media SA, Vol. 11 ( 2020-6-23)
    Type of Medium: Online Resource
    ISSN: 1664-462X
    URL: Article
    URL: Article
    DOI: 10.3389/fpls.2020.00876
    DOI: 10.3389/fpls.2020.00876.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
    detail.hit.zdb_id: 2687947-5
    detail.hit.zdb_id: 2613694-6
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