Fang Fang

Glucosamine/platelet-rich plasma/bone marrow MSC–loaded GelMA hydrogel supports cartilage endplate repair in mice and is associated with reduced inflammation- and oxidative stress–related readouts

Yinghao Bao, Baoyang Hu, Yang Bai, Ying Zhang et autres

Objective In this study, we developed a gelatin methacryloyl (GelMA) hydrogel composite for the simultaneous delivery of glucosamine (GlcN), platelet-rich plasma (PRP), and bone marrow–derived mesenchymal stem cells (BMMSCs). We systematically investigated its effects on cartilage endplate (CEP) cell behavior, inflammation, and …

cn (code pays fourni par la source)

Clinical Spectrum, Heteroplasmy‐Phenotype Correlation, and Prognosis of the MT‐ND3 m.10191 T > C Mutation

Zimeng He, Huafang Jiang, T Y Li, Ying Liu et autres

AIM: To systematically characterize the phenotypic spectrum, neuroimaging features, heteroplasmy-phenotype correlation, and prognosis of the m.10191 T > C mutation. METHODS: We collected and analyzed data from 52 patients (14 newly recruited; 38 from literature). Phenotypes were pre-classified as Leigh syndrome (LS), …

cn (code pays fourni par la source)

Research on Automatic Diagnosis Model of Dental Radiographs Based on Deep Learning

Zuoting Qin, Fang Fang, Zhichen Xie

This study aims to address the challenges of low efficiency and high inter-observer variability in manual dental radiograph interpretation. An improved multi-scale residual network model is proposed for automatic detection and classification of common dental lesions. A dataset of 8,500 annotated periapical …

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Liu Z, Xin Duan, Fatemeh Peymani, Yi-Xiang Wang et autres

OBJECTIVE: Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA-based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis. We …

cn, de (code pays fourni par la source)

Deficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease

Chaolong Xu, Hong Jin, Jiuwei Li, Zhimei Liu et autres

OBJECTIVE: This study aims to explore the clinical characteristics of patients with NAD(P)HX metabolic deficiency and their prognosis after nicotinamide treatment. METHODS: This study retrospectively analyzed the clinical characteristics, efficacy of nicotinamide treatment, and prognosis of patients with genetically confirmed NAD(P)HX metabolic …

cn (code pays fourni par la source)

Author response for "Modulation of the inflammatory microenvironment after SCI to achieve enhanced nerve regeneration using pteryxin-releasing methylacrylated hyaluronic acid"

Baoyang Hu, Bo Sun, Yue Zhao, Chao Chen et autres

The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency

Kajus Merkevičius, Dmitrii Smirnov, Lea D. Schlieben, Rebecca Ganetzky et autres

This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicentre survey exploring genotypes, phenotypes and survival. Data from 891 individuals (45% unpublished) were included. Of note, 53% of cases were females. Median age …

lt, at, de, us, cn, jp, it, pl, dk, nl, sa, gb, ro, hr, es, ch, fr, tr, ie, pt, cz, lv, hu, be, ee, au, cl, bd, il (code pays fourni par la source)

Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes

Song Su, Hongwei Zhang, Qi Zhang, Fen Zhao et autres

OBJECTIVE: Summary and analysis of clinical phenotypes, genotypes, and their correlations in epilepsy patients associated with NPRL2 and NPRL3 gene variants. METHODS: Retrospective analysis and statistical investigation of clinical phenotypes and genotype-phenotype correlations in children with NPRL2/NPRL3 gene variants, combining clinical data …

cn (code pays fourni par la source)

Understanding international travelers’ intentions to adopt protective behaviors against malaria during staying abroad: insights from a study of Chinese international travelers

Yi Wang, Fang Fang, Chengyuan Li, Junjun Wang et autres

BACKGROUND: Imported malaria cases from endemic regions pose significant challenges for malaria-free countries, leading to diagnostic delays, high treatment costs, and the potential for secondary local transmissions. There is a lack of understanding regarding the cognitive decision-making processes that influence travelers' intentions …

cn (code pays fourni par la source)

Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome

Katherine Stanley, Alexa V. Mederos, Ethan H Barksdale, Joel S. Corvera et autres

Introduction Transcriptional dysregulation in patients with Marfan syndrome (MFS) is complex and not well-defined. There are likely patient-specific and general mechanisms in the aortic pathology. In this study, we combine genome and transcriptome data from patients with MFS to determine the transcriptional …

us (code pays fourni par la source)

Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China

Yang Liu, Danmin Shen, Tianyu Song, Chaolong Xu et autres

cn (code pays fourni par la source)

Pleiotropic effects of MORC2 derive from its epigenetic signature

Fatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, Robert Kopajtich et autres

Heterozygous missense mutations in MORC2 have been implicated in various clinical entities, ranging from early-onset neurodevelopmental disorders to late-onset neuropathies. The mechanism underlying the phenotypic heterogeneity and pleiotropic effects of MORC2 has remained elusive. Here, we analysed blood and fibroblast DNA methylation, …

de, jp, it, cn, pl, ru, fr, gb, vn (code pays fourni par la source)