MyMedR

Displaying publications 21 - 26 of 26 in total

Abstract:

Sort:

Fulltext SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China

Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, et al.

PLoS One, 2013;8(9):e74544.
PMID: 24069319 DOI: 10.1371/journal.pone.0074544

The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical phenotypes such as Adult-onset Citrullinemia Type II (CTLN2) and Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD). The analyses of SLC25A13 gene and its protein/mRNA products remain reliable tools for the definitive diagnoses of CD patients, and so far, the SLC25A13 mutation spectrum in Chinese CD patients has not been well-characterized yet.
Fulltext The impact of digital healthcare systems on pain and body function in patients with knee joint pain: a systematic review and meta-analysis

Guo L, Li S, Xie S, Bian L, Shaharudin S

Sci Rep, 2024 Feb 09;14(1):3310.
PMID: 38331984 DOI: 10.1038/s41598-024-53853-z

The digital healthcare (DH) system has recently emerged as an advanced rehabilitation approach that promotes rehabilitation training based on virtual reality (VR) and augmented reality (AR). The purpose of this meta-analysis study is to review and assess the impact of DH systems on pain and physical function among patients diagnosed with knee joint pain. Between January 2003 and September 2023, studies that met the listed inclusion criteria were gathered from Scopus, PubMed, Web of Science, and EBSCO databases. The analysis of standardized mean difference (SMD) was carried out with 95% confidence interval (95% CI) (PROSPERO registration number: CRD42023462538). Eight research papers were selected, which collectively involved 194 males and 279 females. The meta-analysis outcomes revealed that DH intervention significantly improved balance (SMD, 0.41 [0.12, 0.69], p
The incompatibility between industrial restructuring and low-carbon economy: a comprehensive analysis

Zhang X, Zhu H, Sang B, Guo L

Environ Sci Pollut Res Int, 2023 Aug;30(36):85611-85625.
PMID: 37389755 DOI: 10.1007/s11356-023-28316-z

Numerous studies have demonstrated that the development of low-carbon economy and industrial restructuring cannot occur in a coordinated manner. However, academic literature does not provide further explanations for this phenomenon. In this paper, we introduce a novel decomposition method to reassess the relationship between industrial restructuring and low-carbon economy, which yields similar findings. Next, we construct a straightforward theoretical model to investigate two fundamental reasons that interrelate with this issue: excessively high proportion of secondary sector and excessive carbon intensity of tertiary sector. Finally, we implement a rigorous causal identification using three-dimensional panel data at the provincial, industrial, and yearly levels by undergoing multiple robustness tests and mitigating endogeneity issues. Our heterogeneity tests suggest that the impact of industrial restructuring is greater in high-polluting industries, the Eastern region, and non-digital pilot regions. Overall, our theoretical and empirical analysis serves as a vital reference for other developing and developed countries to attain harmonious development between low-carbon economy and industrial restructuring.
Fulltext Turnovers of Sex-Determining Mutation in the Golden Pompano and Related Species Provide Insights into Microevolution of Undifferentiated Sex Chromosome

Guo L, Malara D, Battaglia P, Waiho K, Davis DA, Deng Y, et al.

Genome Biol Evol, 2024 Mar 02;16(3).
PMID: 38408866 DOI: 10.1093/gbe/evae037

The suppression of recombination is considered a hallmark of sex chromosome evolution. However, previous research has identified undifferentiated sex chromosomes and sex determination by single SNP in the greater amberjack (Seriola dumerili). We observed the same phenomena in the golden pompano (Trachinotus ovatus) of the same family Carangidae and discovered a different sex-determining SNP within the same gene Hsd17b1. We propose an evolutionary model elucidating the turnover of sex-determining mutations by highlighting the contrasting dynamics between purifying selection, responsible for maintaining W-linked Hsd17b1, and neutral evolution, which drives Z-linked Hsd17b1. Additionally, sporadic loss-of-function mutations in W-linked Hsd17b1 contribute to the conversion of W chromosomes into Z chromosomes. This model was directly supported by simulations, closely related species, and indirectly by zebrafish mutants. These findings shed new light on the early stages of sex chromosome evolution.
Validation of the Chinese version of the Rosenberg Self-Esteem Scale: evidence from a three-wave longitudinal study

Jiang C, Zhu Y, Luo Y, Tan CS, Mastrotheodoros S, Costa P, et al.

BMC Psychol, 2023 Oct 18;11(1):345.
PMID: 37853499 DOI: 10.1186/s40359-023-01293-1

BACKGROUND: The 10-item Rosenberg Self-Esteem Scale (RSES) is a widely used tool for individuals to self-report their self-esteem; however, the factorial structures of translated versions of the RSES vary across different languages. This study aimed to validate the Chinese version of the RSES in the Chinese mainland using a longitudinal design.
METHODS: A group of healthcare university students completed the RSES across three waves: baseline, 1-week follow-up, and 15-week follow-up. A total of 481 valid responses were collected through the three-wave data collection process. Exploratory factor analysis (EFA) was performed on the baseline data to explore the potential factorial structure, while confirmatory factor analysis (CFA) was performed on the follow-up data to determine the best-fit model. Additionally, the cross-sectional and longitudinal measurement invariances were tested to assess the measurement properties of the RSES for different groups, such as gender and age, as well as across different time points. Convergent validity was assessed against the Self-Rated Health Questionnaire (SRHQ) using Spearman's correlation. Internal consistency was examined using Cronbach's alpha and McDonald's omega coefficients, while test-retest reliability was assessed using intraclass correlation coefficient.
RESULTS: The results of EFA revealed that Items 5, 8, and 9 had inadequate or cross-factor loadings, leading to their removal from further analysis. Analysis of the remaining seven items using EFA suggested a two-factor solution. A comparison of several potential models for the 10-item and 7-item RSES using CFA showed a preference for the 7-item form (RSES-7) with two factors. Furthermore, the RSES-7 exhibited strict invariance across different groups and time points, indicating its stability and consistency. The RSES-7 also demonstrated adequate convergent validity, internal consistency, and test-retest reliability, which further supported its robustness as a measure of self-esteem.
CONCLUSIONS: The findings suggest that the RSES-7 is a psychometrically sound and brief self-report scale for measuring self-esteem in the Chinese context. More studies are warranted to further verify its usability.
iSegMSI: An Interactive Strategy to Improve Spatial Segmentation of Mass Spectrometry Imaging Data

Guo L, Liu X, Zhao C, Hu Z, Xu X, Cheng KK, et al.

Anal Chem, 2022 Oct 25;94(42):14522-14529.
PMID: 36223650 DOI: 10.1021/acs.analchem.2c01456

Spatial segmentation is a critical procedure in mass spectrometry imaging (MSI)-based biochemical analysis. However, the commonly used unsupervised MSI segmentation methods may lead to inappropriate segmentation results as the MSI data is characterized by high dimensionality and low signal-to-noise ratio. This process can be improved by the incorporation of precise prior knowledge, which is hard to obtain in most cases. In this study, we show that the incorporation of partial or coarse prior knowledge from different sources such as reference images or biological knowledge may also help to improve MSI segmentation results. Here, we propose a novel interactive segmentation strategy for MSI data called iSegMSI, which incorporates prior information in the form of scribble-regularization of the unsupervised model to fine-tune the segmentation results. By using two typical MSI data sets (including a whole-body mouse fetus and human thyroid cancer), the present results demonstrate the effectiveness of the iSegMSI strategy in improving the MSI segmentations. Specifically, the method can be used to subdivide a region into several subregions specified by the user-defined scribbles or to merge several subregions into a single region. Additionally, these fine-tuned results are highly tolerant to the imprecision of the scribbles. Our results suggest that the proposed iSegMSI method may be an effective preprocessing strategy to facilitate the analysis of MSI data.