1.Clinical application of exosomes in common neurodegenerative diseases
Bingxing CHEN ; Chao WANG ; Xiuru GUAN
Chinese Journal of Laboratory Medicine 2024;47(2):122-128
Exosomes are nanoscale extracellular vesicle structures that communicate and exchange information between cells. They carry a variety of biologically active molecules whose compositions and contents vary according to the origin and recipient cells. Therefore, exosomes can be used as biomarkers. Neurodegenerative diseases are diseases with hidden onset, so early screening and accurate diagnosis is undoubtedly a reliable guarantee to reduce their mortality and increase the cure rate. Exosomes, as a research hotspot in recent years, have great potential for the diagnosis and treatment of diseases given their transport capacity and contents, and have significant advantages in abundance, stability, diversity and accessibility. The purpose of this paper is to discuss exosomes as potential candidates for early diagnosis of neurodegenerative diseases, and thus to elaborate new fields of their application, with a view to providing a richer perspective for clinical prediction and treatment.
2.Advances of connexin 43 in diabetic nephropathy
Xiuru WANG ; Chujin CAO ; Ying YAO ; Rui ZENG
Chinese Journal of Nephrology 2024;40(6):491-498
Diabetic nephropathy (DN) is a microvascular complication caused by diabetes mellitus, which often leads to structural and functional damages of several kidney cell types, and has become an important cause of chronic kidney disease and end-stage renal disease. Connexins are involved in maintaining cell function and tissue homeostasis in various organs by forming semi-channels and mediating gap-junctional intercellular communication. Connexin 43 (Cx43) is the most abundant and widely studied connexin in kidney. Accumulating evidences have shown that Cx43 is involved in the pathological process associated with glomerular mesangial cells, podocytes and renal tubular epithelial cells during the development of DN. However, the molecular mechanism of Cx43 in regulating kidney cell homeostasis of DN is still unclear. The paper systematically reviews the relationship between Cx43 and pathogenesis of DN from the perspective of signaling pathway regulation, and explores the therapeutic potential of targeting Cx43 in the intervention of DN.
3.Progress on the diagnosis and treatment of Exosomes in Idiopathic Pulmonary Fibrosis
Yuan QI ; Chao WANG ; Xiuru GUAN
Chinese Journal of Laboratory Medicine 2024;47(10):1225-1230
Idiopathic Pulmonary Fibrosis is a chronic interstitial lung disease of unknown etiology with a short survival period, poor prognosis, and difficult to completely cure. At present, the main diagnostic method of IPF is High Resolution CT (HRCT), which has the disadvantage of high subjective impact and low repeatability. Therefore, it is necessary to develop novel biomarkers to aid in the diagnosis and prognosis of IPF. In recent years, more and more studies have focused on exosomes, whose specific regulatory mechanisms for IPF have not been fully elucidated, although it has been extensively studied in the field of malignant tamors and cardiovascular disease. In addition, exosomes can be secreted by different cells and body fluids, having potential applications in suggesting IPF risk and diagnostic prognosis.
4.Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene.
Xiuru SHAO ; Jun MA ; Zhiguo WANG ; Mingyan SUN ; Zhan HUANG ; Zhao JIANG ; Xiaojuan LIU ; Si LI ; Yu LIU
Chinese Journal of Medical Genetics 2023;40(11):1324-1329
OBJECTIVE:
To explore the coagulation deficit and genetic basis for a Chinese pedigree affected with Congenital dysfibrinogenemia (CD).
METHODS:
Peripheral venous blood samples of the proband and her family members (including 4 individuals from three generations) were subjected to routine blood test and assays of liver and kidney functions and viral hepatitis to exclude related diseases. Clauss method and DFg-PT method were used to determine the fibrinogen activity (Fg:C), and an immunoturbidimetric assay was used to determine the level of fibrinogen antigen (Fg:Ag). All of the exons (22 in total) and their flanking sequences of the FGA, FGB and FGG genes were amplified by PCR and directly sequenced. Variants in the coding regions of the three genes and transcriptional splicing sites were screened by using Mutation SurveyorTM software.
RESULTS:
The Clauss method showed that Fg:C was significantly reduced in the proband and her father, whilst her mother and son were normal. With the DFg-PT method, the proband, her parents and son were all within the normal range. The Fg:C/Fg:Ag ratio of the proband and her father was lower than 0.7, whilst her mother and son were above 0.7. No significant change in the prothrombin time, activated partial thromboplastin clotting time and thrombin time was noted. Two genetic variants were detected, which included a homozygous missense variant in the FGA gene [c.991A>G (p.Thr331Ala)], which was predicted to be benign, and a heterozygous missense variant of the γ chain of the FGG gene [c.1211C>G (p.Ser404Phe)], which is located in a conserved region and unreported in the CLINVAR/HGMD/EXAC/1000G databases and literature.
CONCLUSION
This pedigree has conformed to the autosomal dominant inheritance of CD. The c.1211C>T (p.Ser404Phe) missense variant of the γ chain of the FGG gene probably underlay the pathogenesis of CD in this pedigree. The variant was unreported previously and named as "Fibrinogen Harbin II Ser404Phe".
Female
;
Humans
;
Afibrinogenemia/congenital*
;
East Asian People
;
Fibrinogen/genetics*
;
Mothers
;
Mutation
;
Pedigree
5.Historical Evolution and Modern Research of Processing of Cyperi Rhizoma: A Review
Ming YU ; Xiuru ZHANG ; Cuicui ZHANG ; Weijie WANG ; Renwei GUAN ; Ruiqi GUO ; Fang WANG ; Huibin LIN
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(3):223-232
Cyperi Rhizoma is a common Chinese medicine in clinical practice, which has a long history of processing. In order to sort out the process of its processing, starting with the angle of processing excipients, the historical evolution and developmental venation of Cyperi Rhizoma processing were analyzed and summarized by consulting relevant literature of ancient medical records and modern codes. After combing the ancient and modern literature, it was found that there were many processing methods of Cyperi Rhizoma, the processing methods without auxiliary materials included frying, boiling, steaming and so on, and the adding auxiliary materials included vinegar, ginger, salt, multiple excipients, etc. However, with the evolution of history, some characteristic excipients have gradually disappeared, while vinegar-processed products are mainly used in modern times. Meanwhile, processing methods of Cyperi Rhizoma are well documented in various processing standards, the phenomenon of multiple methods adopted in one place and different methods in different places exists, which lacks unified quality standards and leads to uneven quality of Cyperi Rhizoma decoction pieces, which may even affect the safety and effectiveness of its clinical medication. Based on this, the problems existing in the processing research of Cyperi Rhizoma were analyzed in this paper, and made an outlook on the inheritance of the ancient processing methods and the quality standard improvement of the decoction pieces, in order to provide important literature evidence and theoretical support for the study of processing process and mechanism of Cyperi Rhizoma.
6.Preliminary study on the polymorphisms of some related genes and the methylation levels of BAX and ApoE genes in Alzheimer′s disease
Wei CHEN ; Xiaohui ZHOU ; Yali DUAN ; Ting ZOU ; Shiwei DUAN ; Qinwen WANG ; Guili LIU ; Xiuru YING
Chinese Journal of Neurology 2021;54(11):1119-1127
Objective:To preliminarily explore the association between single nucleotide polymorphisms (SNP) of five candidate genes (APH1B, PRNP, HMGCR, SIRT1, ApoE) and Alzheimer′s disease (AD), and to analyze the methylation levels of BAX and ApoE promoters on the pathogenesis of AD.Methods:Seventeen cases who were admitted to the Department of Geriatrics of the First Affiliated Hospital of Xinjiang Medical University from 2014 to 2015 and diagnosed as likely to be AD by geriatrician and neurologists according to the AD diagnostic criteria in 4th Revised Edition of the Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association served AD group, with an age of (75.65±5.86) years, and 34 non-AD patients with matching baseline data such as age, gender, ethnicity, and education status among patients hospitalized during the same period were selected as control group, with an age of (77.59±7.41) years. Sanger sequencing method was used for SNP typing of candidate genes. Methylation-specific polymerase chain reaction was used to determine the DNA methylation level.Results:The distribution of ApoE ε4 allele was statistically different between the AD group and the control group (χ 2=9.718, P=0.002). Candidate genes (SIRT1 rs7895833, APH1B rs1047552, PRNP rs1799990, HMGCR rs3846662) SNP locus genotypes and alleles had no statistically significant differences in the distribution between the AD group and the control group ( P>0.05). After stratification according to whether they carried ApoE ε4, no statistically significant difference was found between the two groups ( P>0.05). The BAX promoter methylation level of the AD group (0.045±0.025) was lower than that of the control group (0.061±0.028) ( t=-2.078, P=0.045). After gender stratification, the BAX methylation level of the female AD group (0.044±0.021) was lower than that of the control group (0.065±0.275) ( t=-2.230, P=0.045). There was no statistically significant difference in the methylation level of ApoE promoter between the AD group and the control group ( P>0.05). After stratification according to whether they carry ApoE ε4 or not, the methylation level of AD patients with ApoE ε4 allele (1.553±0.291) was higher than that of non-carriers (1.221±0.261) ( t=2.480, P=0.025). Conclusions:ApoE ε4 allele may be a risk factor for the onset of AD. BAX promoter hypomethylation contributes to AD in the elderly in Xinjiang, especially in female. ApoE ε4 allele may cause AD through the interaction with ApoE methylation.
7.Clinical research of Jianpi-Yishen Decoction in treating sarcopenia aged patients with syndrome of spleen-kidney deficiency and cold-dampness
Qingyang SONG ; Xiaoxing WANG ; Xiuru NIU ; Min LI ; Shuang WANG ; Jia SUN
International Journal of Traditional Chinese Medicine 2020;42(8):733-736
Objective:To evaluate the efficacy of Jianpi-Yishen Decoction in treating sarcopenia aged patients with syndrome of spleen-kidney deficiency and cold-dampness. Methods:Eighty-two sarcopenia aged patients admitted to Beijing Longfu hospital from January of 2018 to May of 2019 were selected and divided into the control group and the observation group with 41 patients in each group according to the random number table. Patients in the control group were given routine western treatment such as nutritional support. In the observation group, the patients were given Jianpi-Yishen Decoction based on the control group. Both groups were treated for 12 weeks. Before and after the treatment, the upper limb muscle strength, scores of symptoms of syndrome of spleen-kidney deficiency and cold-dampness, the efficacy of traditional Chinese medicine syndrome, and serum level of 1,25-dihydroxyvitamin D3 were compared between the two groups. Results:During the treatment, one patient in the control group was dropped out. The total effective rate was 95.1% (39/41) in the observation group and 72.5% (29/40) in the control group, and the difference between the two groups was statistically significant ( χ2=6.103, P=0.013). After the treatment, the scores of languid limbs, cold limbs, weak waist and knee, clear urine and loose stool in the observation group were obviously lower than those of the control group ( t values were 9.964, 12.510, 14.103, 13.415, 14.599, respectively, all Ps<0.01). The left hand grip strength (52.75±7.91 kg vs. 46.10 ± 7.22 kg, t=3.954) and the right hand grip strength (53.93 ± 8.09 kg vs. 48.55 ± 7.17 kg, t=3.169) were both higher than those of the control group ( P<0.01). Serum level of 1,25-dihydroxyvitamin D3 (23.90 ± 3.34 ng/L vs. 19.44 ± 3.15 ng/L, t=6.184) were higher than those of the control group ( P<0.01). Conclusions:Jianpi-Yishen Decoction in treating sarcopenia aged patients with syndrome of spleen-kidney deficiency and cold-dampness can effectively relieve the symptoms, up-regulate serum level of 1,25-dihydroxyvitamin D3 with clinical efficacy.
8.Diagnostic value of bedside echocardiography with simple A-F mnemonic within 5 minutes by beginners in patients with acute chest pain
Liming YANG ; Bowen ZHAO ; Yucai HONG ; Bei WANG ; Xiaohui PENG ; Qiang LI ; Xiuru LI ; Cong YU ; Ying HAN
Chinese Journal of Emergency Medicine 2019;28(1):90-95
Objective To evaluate the diagnostic value of A-F mnemonic performed by sonographers with limited experience in patients with acute chest pain. Methods This was a prospective observational study. Bedside cardiac ultrasound for patients with chest pain was performed by six sonographers with limited experience using A-F mnemonic, evaluating indexes including aortic dissection(A), both ventricles (B), regional wall motion abnormality (RWMA), left ventricular ejection fraction (LVEF) ≤ 50% (C ,contractility), dimensions (D), pleural and pericardial effusion (E) and further abnormalities (F). Afterwards, experienced cardiac sonographers performed the same examinations, and the difference in the time of ultrasound examination was calculated. The diagnosis of experienced sonographers were referred as the control group, and kappa test was applied to analyze the sensitivity, specificity, positive predictive value and negative predictive value. Results There were 245 cases eligible for study, and 20 cases were excluded. Finally 225 cases of acute chest pain were included in the analysis, containing 158 fatal chest pain and 67 low-risk chest pain. The experienced sonographers diagnosed 20 cases of ascending aortic dissection, 5 cases of right ventricular dilatation, 72 cases of RWMA, 12 cases of LVEF ≤ 50%, 45 cases of left ventricular dilatation, 6 cases of hydropericardium, and 6 cases of other abnormalities. The consistency between beginners and experienced sonographers were as follows:completely same (hydropericardium, Kappa=1.000), highly consistent (ascending aortic dissection, Kappa=0.853, right ventricular dilatation, Kappa=0.931, and other abnormalities, Kappa=0.829), moderately consistent (RWMA, Kappa=0.768, LVEF ≤ 50%, Kappa=0.713 and left ventricular dilatation, Kappa=0.766). The sensitivity and negative predictive value of RWMA and LVEF ≤ 50% and the positive predictive value of left ventricular dilatation in the beginner sonographers were lower than those in the experienced sonographers. Conclusions A-F mnemonic was a simple and practical way for the beginner sonographers to perform bedside cardiac ultrasound. It was of significant value in making correct diagnosis of most acute chest pain patients and providing quick and reliable information for clinicians.
9.New developments of microRNAs' modulatory effect on the occurrence and development of atherosclerosis
Chao WANG ; Xiaofei LIANG ; Xiuru GUAN
Chinese Journal of Laboratory Medicine 2019;42(6):407-413
Atherosclerosis(AS) is the basic pathological process of many cardiovascular and cerebrovascular diseases. Particularly, the rupture of vulnerable plaques is a major cause of disability and death among middle-aged and elderly people. It's crucial to find out some reliable serummarkers for diagnosis, treatment and prognosis of AS. This study aims to summarize some newly reported miRNAs which can control the development of AS by regulating the biological function of endothelial cells, smooth muscle cells and macrophages.We also enumerated some target genes and signal pathways that they may act on, and thus provide some new ideas for the treatment of AS and to provide theoretical basis for finding serum biomarkers which can evaluate the occurrence and stability of AS plaque.
10.A preliminary study of Fetal Intelligent Navigation Echocardiography in the prenatal diagnosis of conotruncal defects
Liming YANG ; Bowen ZHAO ; Qiang LI ; Yuan YANG ; Bei WANG ; Xiaohui PENG ; Mei PAN ; Xiuru LI ; Ying HAN
Chinese Journal of Ultrasonography 2018;27(9):777-783
Objective To investigate the application of fetal intelligent navigation echocardiography ( FINE ,5D Heart) in the diagnosis of conotruncal anomalies ( CTD ) . Methods For prospective study , volume transducer was used to collect the three-dimensional data of fetal heart at 20th - 30th week of gestation . The STIC volume images were processed by three independent physicians of different hierarchies via 5D Heart software afterwards ,and the quality of the STIC diagnosis as well as the consistence among the physicians were analyzed according to the gold standard of postpartum ultrasonic follow-up or surgery results . Results Twelve out of 16 CTD cases were finally included in the study ,and the volume data were analyzed . Senior physicians A could apply 5D Heart diagnosis to achieve 2D-US diagnosis efficiency and gold standard consistently( P = 0 .157 ,0 .083) ,medium and low seniority physician B and C got roughly equal score using 5D Heart diagnosis( P = 0 .705) ,but the diagnostic performance could not reach 2D-US ( P =0 .000 ,0 .000) and gold standard( P = 0 .000 ,0 .000) . Conclusions Fetal cardiac anomalies of CTD can be diagnosed correctly by an expert using 5D Heart ,which has important application prospects in remote consultation , training and scientific research and teaching of congenital heart disease of fetus .

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