2.Clinical data and mutation analysis of two cases of CHARGE syndrome
Jie ZHOU ; Bin GAO ; Yingni ZHOU ; Yueyue FU ; Fei SUN ; Ying XING ; Jie MING ; Qiuhe JI
Chinese Journal of Endocrinology and Metabolism 2019;35(5):398-403
Objective To analyze the clinical manifestations and possible gene mutation sites of Chinese patients in order to improve the clinician's understanding of CHARGE syndrome. Methods Clinical data were collected and blood samples were obtained from the proband of CHARGE syndrome and their relatives. The peripheral blood DNA was extracted and sequenced by PCR amplification. Mutation sites were verified by Sanger sequencing. Results For the first proband, a heterozygous mutation was detected in the intron 10 of CHD7 gene. His parents and brother did not have mutation. For the second proband, total repeat sequence in exon 7 of CHD7 gene was detected. His father carried the same mutation and his mother did not have mutation. Conclusion For the patients who are diagnosed with CHARGE syndrome based on the clinical manifestations, genetic mutation detection should be proceeded. It is useful for studying possible genetic pathogenesis and enhancing the awareness of clinicians.
3.Baicalein enhances the gap junction in the TM4 Sertoli cells of mice.
Guo-jun JIANG ; Shu-ying DONG ; Jie JI ; Hao RU ; Xu-hui TONG
National Journal of Andrology 2015;21(8):687-691
OBJECTIVETo investigate the effect of baicalein on the gap junction intercellular communication (GJIC) in the TM4 Sertoli cells of the mouse testis and its related mechanism.
METHODSWe measured the cytotoxicity of different concentrations of baicalein on the TM4 Sertoli cells in the mouse testis by MTT, detected the fluorescence transfer of the TM4 Sertoli cells by parachute assay, and determined the expression of the protein connexin 43 ( Cx43) in the baicalein-treated cells by Western blot and immunofluorescence assay.
RESULTSBaicalein produced no obvious cytotoxicity on the TM4 Sertoli cells at the concentration below 60 µmol/L but significantly increased their GJIC at 0-20 µmol/L (P < 0.01). Western blot and immunofluorescence assay showed that 0-20 µmol/L baicalein remarkably elevated the expression of Cx43 in the TM4 cells (P < 0.01) and on the membrane of the TM4 cells.
CONCLUSIONBaicalein at the concentration of 0-20 µmol/L can significantly enhance GJIC in mouse TM4 Sertoli cells by increasing the expression of the Cx43 protein.
Animals ; Cell Communication ; drug effects ; Connexin 43 ; metabolism ; Flavanones ; administration & dosage ; pharmacology ; Gap Junctions ; drug effects ; Male ; Mice ; Sertoli Cells ; drug effects ; metabolism ; ultrastructure
4.Relationship between serum uric acid and carotid atherosclerosis in male patients with type 2 diabetes
Qian HUANG ; Yao XU ; Bin GAO ; Pangmin LI ; Jie MING ; Ying XING ; Qiuhe JI
Chinese Journal of Endocrinology and Metabolism 2011;27(7):566-569
Objective To investigate the relationship between the level of serum uric acid(SUA) and carotid atherosclerosis in male patients with type 2 diabetes mellitus(T2DM). Methods A collection of 579 male T2DM patients with or without carotid atherosclerosis were grouped based on quartiles of SUA. Age, SUA, smokers, duration, body mass index(BMI), blood pressure, total cholesterol(TC), triglyceride(TG), high-density lipoprotein cholesterol(HDL-C), low-density lipoprotein cholesterol(LDL-C), blood urea nitrogen(BUN), creatinine(Cr), and HbA1C were determined in all subjects. The plaques in carotid arteries and intima-media thickness(IMT) were measured with high-resolution ultrasound. Results BMI, systolic and diastolic blood pressures, TG, and Cr showed a gradual increase, while HDL-C and HbA1C showed a gradual decrease according to the higher SUA quartiles in male T2DM(P<0.05). Nevertheless, the detectable rates of smokers, duration, age, TC, LDL-C, and BUN had no relationships with the SUA quartiles(P>0.05). The detectable rate of carotid atherosclerosis and the thickness of carotid plaque were positively associated with the levels of SUA in male patients with T2DM(P<0.05). However, intima-media thickness of carotid arteries did not illustrate the correlation with the levels of SUA in male T2DM patients(P>0.05). Age, HbA1C, and SUA were independent factors of carotid atherosclerosis in these patients by logistic regression(P<0.05). Conclusion The levels of SUA seems to be associated with the occurrence and development of carotid atherosclerosis in male patients with T2DM.
5.DADS induces G2/M arrest through Chk1/Cdc25C/CyclinB1/CDK1 pathway in human leukemia HL-60 cells
Xiaoxia JI ; Ying ZENG ; Jie HE ; Hui TAN ; Lan YI ; Weiguo HUANG ; Youhua WU ; Qi SU
Chinese Pharmacological Bulletin 2015;(2):221-226
Aim To study the effects of cycle arrest and molecular mechanism in human leukemia HL-60 cells induced by diallyl disulfide ( DADS ) . Methods Cell count, colony formation in soft agar experiments and flow cytometry analysis were employed to observe the DADS-induced cell growth inhibition and the effect of cycle arrest in HL-60 cells. The expressions of Chk1/2 and its downstream element in HL-60 cells were detected by Western blot. Results Cell count revealed that population doubling time increased to 35. 03 h and 71. 82 h, respectively, from 19. 14 h in HL-60 cells treated with 60 and 120 μmol·L-1 DADS ( P<0. 05 ) . Colony formation in soft agar experiments showed that colony formation inhibition rate of HL-60 cells exposed to 30, 60, 90 and 120μmol·L-1 DADS increased to 35. 06%, 62. 10%, 93. 79% and 99. 35%, respectively ( P<0. 05 ) . Flow cytometry a-nalysis exhibited that HL-60 cells treated with 60 and 120 μmol · L-1 DADS for 24 h and 48 h arrested in G2/M phase in a concentration-and time-dependent manner ( P <0. 05 ) . Western blot disclosed that the expression of p-Chk1 increased in a time-dependent manner ( P <0. 05 ); however, Chk1, Chk2 and p-Chk2 were not changed in HL-60 cells treated with 60μmol·L-1 DADS (P >0. 05). The expression of Cdc25C, CyclinB1 and CDK1 decreased after treated with 60 μmol·L-1 DADS in a time-dependent manner ( P<0. 05 ) , but the expression of 14-3-3 protein did not change ( P>0. 05 ) . Conclusion DADS can in-hibit the proliferation of HL-60 cells, and induce G2/M arrest through Chk1/Cdc25 C/CyclinB1/CDK1 path-way.
6.Changes of Nitric Oxide and Circulating Endcthelial Cells in Children with Acute Lower Respiratory Tract Infection
hua-qiang, LI ; yuan, SHI ; su-zeng, FENG ; jie, PAN ; ying-bo, YANG ; ji-gao, SHEN
Journal of Applied Clinical Pediatrics 1986;0(02):-
Objectives To search for the pathogenesis of vaseular endothelial injury and its clinical significance.Methods 36 patients with acute lower respiratory trect infection(ALRI)and 30 healthy controls were envolved. Circulating endothelial cells (CEC)and nitric oxide (NO) levels were tested.Results Circulating nitrite/nitra levels,the stable metabolic products of NO,were found to be significantly higher in the patients with ALRI (44.6?22.6umol/L) than that in the controls (24.5?14.1umoI /L, P
7.Effect comparison of statins on myocardial injure and inflammatory factors in patients with unstable angina pectoris undergoing percutaneous coronary intervention
Fang PEI ; Ji HUANG ; Jie HUANG ; Ying YANG ; Changqing YU ; Xukai WANG
Chongqing Medicine 2015;(6):749-751
Objective To compare the effect of atorvastatin and rosuvastatin on myocardial injure and inflammatory factors in patients with unstable angina pectoris(UAP)undergoing percutaneous coronary intervention(PCI).Methods Ninety six UAP pa-tients undergoing PCI were enrolled in the study and divided into two groups,patients were given atorvastatin(20 mg/d)or rosuv-astatin(20 mg/d)besides conventional treatment for 1 week before PCI.Datas were collected before medication,PCI and Twenty-four hours after PCI,including CK-MB,cTnI,hs-CRP,TNF-α,IL-6 and IL-10.Results Twenty-four hours after surgery,the PCI, CK-MB,cTnI,hs-CRP,TNF-α,IL-6 of rosuvastatin group were lower than those of atorvastatin group(P <0.05),but IL-10 of ro-suvastatin group was higher than that of atorvastatin group(P <0.05).Conclusion Rosuvastatin (20 mg/d)is better than atorvas-tatin (20 mg/d)in the efficacy of UAP patients undergoing PCI,which can reduce the level of myocardial injure and inflammatory factors effectively.
9.Role of Diffusion?weighted and Contrast?enhanced Magnetic Resonance Imaging in Differentiating Activity of Ankylosing Spondylitis
Zhao YING?HUA ; Cao YAN?YAN ; Zhang QUN ; Mei YING?JIE ; Xiao JI?JIE ; Hu SHAO?YONG ; Li WEI ; Li SHAO?LIN
Chinese Medical Journal 2017;(11):1303-1308
Background: Previous studies showed that combining apparent diffusion coefficient (ADC) value with the Spondyloarthritis Research Consortium of Canada (SPARCC) index value might provide a reliable evaluation of the activity of ankylosing spondylitis (AS), and that contrast?enhanced (CE) magnetic resonance imaging (MRI) is unnecessary. However, the results were based on confirming only a small random sample.This study aimed to assess the role of CE?MRI in differentiating the disease activity ofAS by comparingADC value with a large sample. Methods: A total of 115 patients with AS were enrolled in accordance with Bath AS Disease Activity Index and laboratory indices, and 115 patients were divided into two groups, including active group (n = 69) and inactive group (n = 46). SPARCC, ΔSI, and ADC values were obtained from the short tau inversion recovery (STIR), diffusion?weighted imaging (DWI), and CE?MRI, respectively. One?way analysis of variance and receiver operating characteristic analysis were performed for all parameters. Results: The optimal cutoff values (with sensitivity, specificity, respective area under the curve, positive likelihood ratio, and negative likelihood ratio) for the differentiation between active and inactive groups are as follows: SPARCC = 6 (72.06%, 82.61%, 0.836, 4.14, 0.34); ΔSI (%) = 153 (80.6%, 84.78%, 0.819, 5.3, 0.23); ADC value = 1.15 × 10?3 mm2/s (72.73%, 81.82%, 0.786, 4, 0.33). No statistical differences were found among the predictive values of SPARCC, ΔSI, and ADC. Multivariate analysis showed no significant difference between the combination of SPARCC and ADC values with and without ΔSI. Conclusions: Using large sample, we concluded that the combination of STIR and DWI would play significant roles in assessing the disease activity, and CE?MRI sequence is not routinely used in imaging of AS to avoid renal fibrosis and aggravation of kidney disease.
10.Clinical research on auricular point therapy for 1477 cases of biased constitution.
Ji-Hong LIU ; Nian ZHANG ; Shao-Ying SONG ; Wei-Jie LIANG ; Zhi-Ying YU ; Bao-Ying CEN
Chinese Acupuncture & Moxibustion 2013;33(3):259-261
OBJECTIVETo observe the efficacy of biased constitution patients treated by auricular point therapy on the basis of "preventive treatment" theory.
METHODSBy means of self-control, 1477 cases of biased constitution were regulated by auricular point sticking therapy or acupuncture, and follow-up and statistical analysis were conducted to observe the efficacy.
RESULTSThere were 322 markedly effective patients, 914 effective patients, 241 failed patients and the total effective rate was 83.7% (1236/1477).
CONCLUSIONThe comprehensive auricular treatment which is easy to operate and acceptable for patients has obvious effect in biased constitution patients. As a new direction of the "preventive treatment" theory, it can be promoted to be a new intervention way of health care.
Acupuncture Points ; Acupuncture Therapy ; Acupuncture, Ear ; Adolescent ; Adult ; Female ; Humans ; Male ; Middle Aged ; Preventive Medicine ; Young Adult