Rare disease publishing trends worldwide and in China: A CiteSpace-based bibliometric study [0.03%]
全球及中国罕见病发表趋势：一项基于CiteSpace的文献计量研究
Qi Kong,Chenxin Fan,Ying Zhang et al.
Qi Kong et al.
This study aimed to understand research trends, determine frontier topics, and explore the developments in and the differences between research conducted in China and the rest of the world. We analyzed the research status of rare diseases i...
A bibliometric study of rare diseases in English and Chinese databases from 1985 to 2024 based on CiteSpace [0.03%]
基于CiteSpace的1985至2024年英汉数据库中罕见疾病文献计量研究
Mengru Tian,Shuyi Wang,Zhihui Meng et al.
Mengru Tian et al.
This study utilizes CiteSpace (version 6.2.R3) to visually analyze literature related to rare diseases, summarizing the current research status and hotspots in the field. The goal was to provide broader perspectives and references for resea...
Xu Jing Qian,Safwat Girgis,Mitchell P Wilson et al.
Xu Jing Qian et al.
Primary hepatic angiosarcoma (PHA) is a rare hepatic mesenchymal tumor that accounts for 2% of all primary malignant liver tumors. It typically presents with nonspecific symptoms, is highly aggressive, and there are limited treatment option...
miR-141-3p-loaded extracellular vesicles ameliorate intrahepatic bile duct stone disease by decreasing MUC5AC expression via the MAPK pathway [0.03%]
装载了 miR-141-3p 的细胞外囊泡通过降低 MUC5AC 的表达来改善肝内胆管结石疾病
Yinbiao Cao,Shichun Lu,Haowen Tang
Yinbiao Cao
Intrahepatic bile duct stone disease has a high morbidity in China, with a high rate of additional surgery, a high rate of cancer development, and a high disease burden. Activation of the MAPK pathway leading to up-regulation of MUC5AC expr...
Research hotspots and trends of the SLC26A4 gene-related hearing loss from the perspective of knowledge graph [0.03%]
从知识图谱视角看SLC26A4基因相关听力损失的研究热点及趋势
Yue Li,Cheng Wen,Yiding Yu et al.
Yue Li et al.
This article aims to identify research hotspots and trends in research on SLC26A4 gene-related hearing loss through bibliometric and visual analyses, providing a reference and direction for future research. Publications on SLC26A4 gene rese...
Mitochondrial metabolic maturation in postnatal right ventricle restricted by volume overload [0.03%]
产后右心室体积负荷过重导致线粒体代谢成熟受限
Juan Cao,Yingying Xiao,Haifa Hong et al.
Juan Cao et al.
Right ventricular volume overload (RVVO) is a common hemodynamic abnormality in patients with congenital heart disease (CHD) and frequently leads to pathological cardiac remodeling. Our previous research demonstrated that RVVO disrupts the ...
Evaluating the impact of mandibular developmental abnormalities and distraction osteogenesis on swallowing function in Pierre Robin Sequence [0.03%]
下颌发育异常和牵张成骨对Pierre Robin序列中吞咽功能的影响评估
Yi Chen,Yijing Chen,Jielong Huang et al.
Yi Chen et al.
This study aims to evaluate the relationship between mandibular developmental abnormalities and swallowing function in children with Pierre Robin Sequence (PRS). Swallowing function was assessed by a Modified Kubota Drinking Test (MKDT). Pr...
Risk associated circulating biomarkers S100A3 identified in congenital heart disease-associated pulmonary arterial hypertension [0.03%]
先天性心脏病相关肺动脉高压中鉴定出的循环生物标志物S100A3风险关联分析
Weian Zhao,Yijing Chen,Zhongsu Yu et al.
Weian Zhao et al.
With improved survival rates among congenital heart disease (CHD) patients, pulmonary arterial hypertension (PAH) linked to CHD becomes more prevalent in both children and adults. PAH remains a significant contributor to morbidity and morta...
A novel ETFDH mutation identified in a patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency [0.03%]
在对核黄素有反应的多酰基CoA缺乏症患者中发现的一个新的ETFDH突变
Yaotong Ou,Yi Wen,Xi Chen et al.
Yaotong Ou et al.
Lipid storage myopathies (LSM) are a group of inherited metabolic muscle disorders characterized by abnormal lipid metabolism and the deposition of lipids within muscle fibers. Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is the...
Herpes zoster central nervous system complication: An increasing trend of acute limbic encephalitis [0.03%]
带状疱疹中枢神经系统并发症：急性边缘性脑炎的增长趋势
Hiroshi Shoji,Shino Umeda,Makoto Kanazawa et al.
Hiroshi Shoji et al.
Varicella zoster virus (VZV) causes chickenpox as the primary infection and then becomes latent in the cranial and spinal ganglia. VZV can reactivate with aging, immunosuppression, stress, and other factors. In our series of 15 patients wit...