Clinica Chimica Acta
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2.62
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22913
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#1Xiaoxuan Yang (CSU: Central South University)
#2Dongyan Li (CSU: Central South University)H-Index: 2
Last. Qianjun Zhang (CSU: Central South University)H-Index: 6
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Background and aims Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by a deficiency of propionyl-CoA carboxylase and mutations in the PCCA and PCCB genes. In this study, we investigated the clinical characteristics of individuals with PA and conducted genetic analyses to provide new genetic evidence for the diagnosis of PA. Materials and methods We conducted whole-exome sequencing and Sanger sequencing in four individuals with PA from three unrelated Chinese families....
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#1Jing WangH-Index: 1
Last. Hongwei ZhangH-Index: 1
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Abstract Exosomes, a subtype of extracellular vesicle secreted by cells, have been a subject of intense research interest. Unfortunately, a simple and reliable method to separate exosomes has yet to be developed. As can be expected, the lack of a standardized method for extraction and purification has contributed to suboptimal inter-laboratory correlation and difficulty in comparison studies. Traditional techniques such as centrifugation, immunoaffinity and size exclusion chromatography, suffer ...
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#1Shimeng Chen (CSU: Central South University)H-Index: 2
#2Xiaolu Deng (CSU: Central South University)H-Index: 9
Last. Fei Yin (CSU: Central South University)H-Index: 16
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Abstract Background It has been reported that de novo heterozygous variants of DEAF1 can cause DEAF1-associated neurodevelpmental disorder. The purpose of this article is to explore the clinical and genetic characteristics of Chinese patients harboring de novo DEAF1 variants. Methods We assembled a cohort of six unrelated patients with de novo variants in DEAF1. Clinical and genetic features of these patients were summarized. Results Each child showed ID/GDD. Severe language impairment was promi...
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#1Aniello Primiano (UCSC: Catholic University of the Sacred Heart)H-Index: 7
#2Silvia Persichilli (UCSC: Catholic University of the Sacred Heart)H-Index: 18
Last. Jacopo GervasoniH-Index: 12
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Abstract Background Cystinuria is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. The Brand’s test, used for diagnosis, requires dangerous substances, so has been replaced with high-performance liquid chromatography with fluorimetric detection (HPLC-FL). However, this technique requires the use of complex equipment. Infrared spectroscopy, universally used for stone analysis, recently was employed to detect insoluble cyst...
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#1Maribel Rodríguez-Aguilar (Universidad Autónoma de San Luis Potosí)H-Index: 5
#2Lorena Díaz de León-Martínez (Universidad Autónoma de San Luis Potosí)H-Index: 5
Last. Rogelio Flores-Ramírez (Universidad Autónoma de San Luis Potosí)H-Index: 13
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BACKGROUND Analysis of volatile organic compounds (VOCs) in exhaled breath has been proposed as a screening method that discriminates between disease and healthy subjects, few studies evaluate whether these chemical fingerprints are specific when compared between diseases. We evaluated global VOCs and their discrimination capacity in chronic obstructive pulmonary disease (COPD), lung cancer, breast cancer and healthy subjects by chemoresistive sensors and chemometric analysis. METHODS ; A cross-...
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#1Wujun Chen (Qingdao University)H-Index: 5
#2Lu Li (Qingdao University)H-Index: 1
Last. Dongming Xing (THU: Tsinghua University)H-Index: 10
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Atherosclerosis is characterized by lipid accumulation and chronic inflammation. The accumulation of apoptotic foam cells can induce the secretion of proinflammatory factors and necrosis of atherosclerotic plaque tissue. Numerous studies have demonstrated that extracellular vesicle (EV)-enclosed YRNAs and their fragments, YsRNAs, play important roles in atherosclerosis initiation, progression, and diagnosis. YsRNA-5p transcripts promote foam cell apoptosis and inflammatory responses by binding t...
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#1Xin Su (Ha Tai: Xiamen University)H-Index: 1
#2Ye Cheng (Ha Tai: Xiamen University)
Last. Bin Wang (Ha Tai: Xiamen University)
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Abstract Obesity is associated with a series of health problems. Adipocytes are a huge repository of energy as well as an important source of many adipokines. In obesity, adipocytes are dysfunctional with excessive production and secretion of pro-inflammatory adipokines, such as tumor necrosis factor α (TNF-α), leptin, and chemerin. Recent studies have revealed that chemerin plays an important role in modulating physiologic as well as pathophysiologic processes. For example, chemerin stimulates ...
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#1Ziyun Shen (SJTU: Shanghai Jiao Tong University)H-Index: 2
#2Zhiwei Xu (SJTU: Shanghai Jiao Tong University)H-Index: 3
Last. Baiyong Shen (SJTU: Shanghai Jiao Tong University)H-Index: 26
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Abstract Background The aim of this study was to construct and internally validate a nomogram for predicting major complications in obstructive jaundice patients planned to undergo pancreaticoduodenectomy (PD). Methods The clinical data of 835 obstructive jaundice patients who underwent PD in a high-volume center were collected and retrospectively analyzed during an 8-year period. Factors affecting the major complication rate were optimized by least absolute shrinkage and selection operator (LAS...
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Last. Lieve Van Hoovels (Katholieke Universiteit Leuven)H-Index: 9
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Abstract Background Calprotectin (CLP) is a promising biomarker for the evaluation of neutrophil-related inflammation. Our aim was to establish reference values for circulating CLP in different sample types and to study the effect of pre-analytical variables. Methods Reference values were determined in 100 healthy individuals. Pre-analytical variables were evaluated in 10 healthy controls and four rheumatoid arthritis patients with active disease and covered sample type (serum with/without gel s...
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#1Yiyi Xie (ZJU: Zhejiang University)H-Index: 2
#2Tingting Zhuang (ZJU: Zhejiang University)
Last. Xiuzhi Duan (ZJU: Zhejiang University)H-Index: 9
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Abstract Background It has been confirmed that high Systemic immune-inflammation index (SII) levels usually indicate poor outcomes in various diseases, especially on malignancies. However, the clinical significance of the SII in ulcerative colitis (UC) patients is remain unclear. Therefore, the purpose of our paper is to analyze the levels of SII in UC patients and assess the relationship between the SII and disease activity. Materials and methods We studied 187 consecutive patients with UC and ...
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