1.Clinical and electrophysiological study on charcot-Marie-Tooth disease type 1A with gene duplication.
Yuwei DA ; Dingguo SHEN ; Fengxia SU ; Shuxian LIU
Chinese Journal of Nervous and Mental Diseases 2001;27(1):4-9
Objective To study the clinical and electrophysiological features in Charcot-Marie-Tooth disease type 1A with gene duplication.Methods Clinical symptoms and signs were summarized in 22 patients from 21 unrelated families. Electromyography (EMG) as well as motor conduction velocities (MCV) and sensory conduction velocities (SCV) examinations were performed in all patients. Results Evidence of CMT was initially detected within the second decade in 18 patients. Nearly half of patients were sporadic cases. The typical clinical manifestations of CMT1A were weakness and atrophy in the distal limbs, weakness or absence of the tendon reflexes, talipes equinovarus and postural tremor the upper limb. Additionally, some special symptoms and signs were also observed occasionally, including brisk tendon reflexes, extensor plantar responses, scoliosis, foot ulcers and nystagmus. EMG revealed that 77.3% of the patients had fibrillation and positive sharp potentials. 81.8% of them had prolonged motor unit potential limit. Median MCV showed there was no significant difference between CMT1A patients and CMT1 patients without duplication (t=1.63, P>0.05). Values of SCV and MCV for the lower limbs were not obtained in 20 patients and more than 2/3 of the patients respectively. Conclusions The clinical features of CMT1A included high frequent of sporadic cases, early onset in the second decade and various manifestations. The electrophysiological features were that the damages of nerves for the lower limbs were more severer than those in the upper limbs and the damages of the sensory nerves were more severer than those of the motor nerves. The phenotype was variable although the genotype was the same in CMT1A patients with PMP22 duplication.
2.Cross-sectional study on clinical characteristic and medical care-seek behavior of patients with systemic lupus erythematosus
Sisi PAN ; Yin SU ; Rui LIU ; Xiangyuan LIU ; Fengxia WU ; Guohua YUAN ; Lijun WU ; Zhanguo LI
Chinese Journal of Rheumatology 2010;14(1):17-20
Objective To investigate the clinical characteristics of systemic lupus erythematosus (SLE) and the situation of diagnosis after onset. Methods Three hundred outpatients diagnosed with SLE were investigated in the People's Hospital, the Third Hospital of Peking University, Xinjiang People's Hospital and the Affiliated Hospital from May to July 2008, including gender, age of onset, clinical manifestations and the site of first hospitalization. Results ① In the cross-sectional study, 300 SLE patients were investigated. The male-to-female ratio was 1:13. ② The most common manifestations at onset were arthritis (46.3%), rash (34.%) and fever (32.7%). Lupus nephritis was found to occur in a significantly higher frequency in male patients than female as the initial manifestation. 60.9% patients had lupus nephritis in the first year after onset. ③ 99.1% of the patients were correctly diagnosed after visiting rheumatologists. 23.7% of the SLE patients were not correctly diagnosed for more than one year after disease onset. Conclusion Arthritis, rash and fever are the most common initial clinical manifestations of SLE. Lupus nephritis is more commonly seen in male SLE patients than female at the disease onset. The diagnosis of lupus is delayed in certain proportion of patients.
3.Suppression of epipolythiodioxopiperazine compound C87 on growth of tumor cells and its effect on production of reactive oxygen species
Yiyang GAO ; Xiaoli WEL ; Xiaowen YANG ; Fengxia REN ; Jianquan ZHENG ; Zhibing ZHENG ; Ruibin SU
Chinese Journal of Pharmacology and Toxicology 2015;(2):253-259
OBJECTIVE To study the effect of epipolythiodioxopiperazine compound C87 on tumor cell proliferation and explore the potential mechanisms. METHODS Tumor cells were exposed to C87 0.05-1 μmol.L-1 for 24, 48 and 72 h, cell viability was determined by sulforhodamine B (SRB) assay and the half growth inhibition (Gl50 ) was calculated. After treatment with C87 0.1-2.5 μmol.L-1 for 6 h, or C87 2.5 μmol.L-1 for 0-6 h, the generation of reactive oxygen species (ROS) was measured using the compound 2′,7′-dichlorofluoresceindiacetate and flow cytometry analysis. After treatment with C87 2.5 μmol.L-1 , either alone or with antioxidant N-acetylcysteine (NAC), for 6 h, the generation of ROS was measured by flow cytometry analysis. Tumor cells were exposed to C87 0.05-1 μmol.L-1 , either alone or with NAC, for 24 and 48 h, while cell viability was determined by SRB assay. RESULTS The cell viability was significantly reduced following exposure to C87 0.05-1 μmol.L-1 for 24, 48 and 72 h in a concentration-dependent manner in A549, HCT116, HeLa and SMMC7721 cells(P<0.05). At 72 h, the value of r2 was 0.946, 0.989, 0.973 and 0.984(P<0.05), respectively. The cell viability was significantly reduced following exposure to C87 1 μmol.L-1 for 24 - 72 h in a time-dependent manner in A549, HCT116, HeLa and SMMC7721 cells(P<0.05). The value of r2 was 0.983, 0.956, 0.951 and 0.873(P<0.05), respectively. The generation of ROS was increased after exposure to C87 0.25-2.5 μmol.L-1 in a concentration-dependent manner in HCT116 and HeLa cells for 6 h (r2 = 0.760, P = 0.045: r2 = 0.987, P=0.001), and after exposure to C87 2.5 μmol.L-1 in a time-dependent manner in HCT116 and HeLa cells for 0.5-6 h (r2 = 0.886, P = 0.017: r2 = 0.994, P = 0.000).The C87-induced ROS generation could be blocked by NAC in HCT116 and HeLa cells(P<0.05). The C87 induced cell death could be blocked by NAC 5 and 10 mmol.L-1 , and the Gl50 value was 1.446 and 1.134 μmol.L-1 for 24 h (the Gl50 value of C87 group was 0.513 μmol.L-1 ), and 0.882 and 1.166 μmol.L-1 for 48 h (the Gl50 value of C87 group was 0.333 μmol.L-1 ). CONCLUSION The novel epipolythiodioxopiperazine derivative C87 exerts potent antitumor activity in vitro, possibly via triggering ROS production.
4.Clinical investigation of relationship between serum 25-hydroxyvitamin D3 and urine vitamin D binding protein levels in patients with diabetic nephropathy
Liqing SU ; Yuping ZHOU ; Haijing WANG ; Fengxia SI ; Wenwen LIN
Chinese Journal of Primary Medicine and Pharmacy 2018;25(21):2815-2818
Objective To investigate the serum levels of 25-hydroxyvitamin D3 (25 (OH)D3) and urine vitamin D binding protein(uVDBP) in patients with diabetic nephropathy (DN),and to determine the relationship between 25 (OH) D3,uVDBP and DN,in order to provide a new method for early diagnosis and treatment of DN.Methods From January 2015 to December 2015,85 DN patients admitted into Weihai Municipal Hospital were selected.According to the ratio of UALB to UCR(UACR),the patients were divided into three groups.Type 2 diabetes had 28 cases of normal albuminuria group,31 cases of microalbuminuria group,and 26 cases of clinical albuminuria group.We also enrolled 25 healthy people who received outpatient service as control group.Serum 25 (OH) D3 levels were measured by chemiluminescence method.Urine VDBP levels were assayed by ELISA.FPG,HbA1 c,UREA,SCr,TC,TG were measured by electrochemiluminescence.Results The results showed that serum 25 (OH)D3 was significantly lower in the normal albuminuria group,microalbuminuria group and clinical proteinuria group than that in the control group (P < 0.05),and there was statistically significant difference among the four groups [(20.04 ± 7.52) ng/mL,(16.54 ± 6.51) ng/mL,(10.77 ± 4.63) ng/mL,(29.65 ± 5.47) ng/mL,F =86.294,P < 0.001].The results showed that uVDBP was significantly higher in the DN group than that in the control group(all P < 0.05),and there was statistically significant difference among the four groups [(8.44 ± 3.20) mg/L,(14.22 ± 3.26) mg/L,(2 1.77 ± 5.87) mg/L,(4.95 ± 1.34) mg/L,F =125.583,P < 0.001].Correlation analysis showed that serum 25 (OH) D3 decreased gradually with the increase of DN and negatively correlated with UACR (r =-0.575,P < 0.01),while uVDBP level was positively correlated with UACR (r =0.436,P =0.015).Conclusion With the progress of DN,serum 25 (OH) D3 levels gradually decreased,indicating that 25 (OH) D3 may play an important role in the pathogenesis of DN;uVDBP may be an early diagnostic method for DN.
5.A Simplified Approach for Detecting Homologous Deletion of SMN1 Genes in Spinal Muacular Atrophy
Xiaoqiao LI ; Fengxia YAO ; Liang SU ; Juanjuan HAN ; Yan MENG ; Zheng WANG ; Yuanyuan PENG ; Yan DIAN ; Qing ZHOU ; Shangzhi HUANG
Journal of Medical Research 2006;0(05):-
Objective To develop a rapid,reliable and convenient approach for diagnosing the homozygous deletion of SMN1 gene.Methods SMN1 gene was amplified specifically with double allele-specific PCR(AS-PCR).Meanwhile,one inrelevant gene was amplified as internal control by PAGE and agarose gel electrophoresis analysis to determine whether the sick children were with homozygous deletion of SMN1 genes.Results The homozygous deletion of exon7 in SMN1 gene was identified by agarose gel electrophoresis or PAGE accurately.Conclusion Compared to PCR-RFLP and DHPLC used in the past,this approach can diagnose homozygous deletion of SMA much more accurate,easier and more convenient without completed following analyses.
7.Research progress in the correlation between SREBP/PCSK9 pathway and lipid metabolism disorders induced by antipsychotics
Jiashu MA ; Yunshao ZHENG ; Fengxia SUN ; Yunli FAN ; Yunming FAN ; Xianbiao SU ; Zhongbao WANG ; Ning WENG ; Ranran LI
Journal of Central South University(Medical Sciences) 2023;48(10):1529-1538
Antipsychotic medications are commonly used to treat schizophrenia,but they can have negative effects on lipid metabolism,leading to an increased risk of cardiovascular diseases,reduced life expectancy,and difficulties with treatment adherence.The specific mechanisms by which antipsychotics disrupt lipid metabolism are not well understood.Sterol regulatory element-binding proteins(SREBPs)are important transcriptional factors that regulate lipid metabolism.Proprotein convertase subtilisin/kexin type 9(PCSK9),a gene regulated by SREBPs,plays a critical role in controlling levels of low-density lipoprotein cholesterol(LDL-C)and has become a focus of research on lipid-lowering drugs.Recent studies have shown that antipsychotic drugs can affect lipid metabolism through the SREBP/PCSK9 pathway.A deep understanding of the mechanism for this pathway in antipsychotic drug-related metabolic abnormalities will promote the prevention of lipid metabolism disorders in patients with schizophrenia and the development and application of new drugs.
8. Expression and clinical significance of MIIP and PAK1 in endometrial carcinoma
Su JIANG ; Wenyan TIAN ; Ye YAN ; Fei TENG ; Jinping GAO ; Yingmei WANG ; Fengxia XUE
Chinese Journal of Oncology 2018;40(5):359-364
Objective:
To investigate the expressions of migration and invasion inhibitory protein (MIIP) and p21-activated kinase 1 (PAK1) in endometrial carcinoma (EC) and their correlation with clinicopathological features.
Methods:
The protein levels of MIIP and PAK1 in 135 paraffin-embedded EC tissues, 55 atypical hyperplasia of endometrium (AHE) and 88 normal endometrium (NE) tissues were quantified by immunohistochemistry, the clincial significance and the relationship of these two proteins were also analyzed.
Results:
The positive rates of MIIP expression in NE, AHE and EC tissues were 52.3%(46/88), 41.8% (23/55) and 34.8% (47/135), respectively. The expression of MIIP in EC was significantly lower than that of MIIP in NE (