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OBJECTIVE@#To evaluate the value of high-resolution ultrasound the diagnosis and prognosis of cubital tunnel syndrome.@*METHODS@#From January 2018 to June 2019, 47 patients with cubital tunnel syndrome were treated with ulnar nerve release and anterior subcutaneous transposition. There were 41 males and 6 females, aged from 27 to 73 years old. There were 31 cases on the right, 15 cases on the left, and 1 case on both sides. The diameter of ulnar nerve was measured by high-resolution ultrasound pre-and post-operatively, and measured directly during the operation. The recovery status of the patients was evaluated by the trial standard of ulnar nerve function assessment, and the satisfaction of the patients was assessed.@*RESULTS@#All the 47 cases were followed up for an average of 12 months and the incisions healed well. The diameter of ulnar nerve at the compression level was (0.16±0.04) cm pre-operatively, and the diameter of ulnar nerve was (0.23±0.04) cm post-operatively. The evaluation of ulnar nerve function:excellent in 16 cases, good in 18 cases and fair in 13 cases. Twelve months post-operatively, 28 patients were satisfied, 10 patients were general and 9 patients were dissatisfied.@*CONCLUSION@#The preoperative examination of ulnar nerve by high-resolution ultrasound is consistent with the intuitive measurement during operation, and the result of postoperative examination of ulnar nerve by high-resolution ultrasound is consistent with follow-up results. High-resolution ultrasound is an effective auxiliary method for the diagnosis and treatment of cubital tunnel syndrome.
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Mâle , Femelle , Humains , Adulte , Adulte d'âge moyen , Sujet âgé , Syndrome du tunnel ulnaire au coude/chirurgie , Nerf ulnaire/chirurgie , Procédures de neurochirurgie/méthodes , Décompression chirurgicale/méthodes , PronosticRésumé
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with autosomal dominant late-onset non-syndromic hearing loss (NSHL).@*METHODS@#Clinical data of the pedigree were collected. Genomic DNA was extracted from peripheral blood samples of the proband and other family members. Trio whole exome sequencing was carried out for 19 396 genes to identify potential pathogenic variants. Sanger sequencing was carried out to verify the candidate variant in the pedigree.@*RESULTS@#The proband and his father were found to carry a c.1183+1delG p.? variant of the DFNA5 gene. The variant was confirmed to be co-segregating with the disease phenotype in the pedigree.@*CONCLUSION@#The c.1183+1delG p.? variant of the DFNA5 gene probably underlay the late onset NSHL in this pedigree. Above finding has enabled accurate genetic counseling for this pedigree.
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Humains , Mâle , Âge de début , Chine , Surdité neurosensorielle/génétique , Mutation , Pedigree , Récepteurs des oestrogènes/génétiqueRésumé
Objective:To analyze the changes of bone mineral density (BMD), the characteristics of bone metabolic markers and related factors in patients with spinal cord injury (SCI). Methods:A total of 78 patients with SCI in our hospital from April, 2018 to May, 2020 were selected and divided into groups according to the injury courses. The people receiving physical examination in the same period were selected as control. BMD of proximal femur was measured by dual energy X-ray absorptiometry. Bone metabolic markers were detected. The correlation between BMD and clinical indicators was analyzed. Results:There was no difference in BMD between the patients within three months and the controls (P > 0.05). BMD at trochanter major, intertrochanteric and total hip in patients three to six months post injury was lower than that in the controls (|t| > 2.242, P < 0.05). The BMD at femoral neck, trochanter major, intertrochanteric and total hip in patients during six to twelve months post injury was lower than that in the controls (|t| > 2.026, P < 0.05). BMD at proximal femur in patients with twelve to 24 months post injury was lower than that in the controls (|t| > 2.189, P < 0.05). The decrease of BMD aggravated with the course of injury. There was no difference in BMD between paraplegia and quadriplegia, complete injury and incomplete injury (P > 0.05). Collagen type I C-terminal telopeptide (CTX) and N-terminal propeptide of type l precollagen (PINP) were higher than the reference range in the course of each injury, increased within three months post injury, reached the peak at three to six months post injury, and decreased to a steady state since seven months post injury. Vitamin D deficiency occurred in 87.5% of the patients. BMD at femoral neck and total hip was negatively correlated with the course of injury (|r| > 0.250, P < 0.05), and positively correlated with body mass index (r > 0.255, P < 0.05). Conclusion:The longer the duration of SCI, the more decrease of BMD. The early bone metabolism of patients with SCI is high conversion type. The rate of vitamin D deficiency in patients with SCI is quite high. It is necessary to detect and evaluate the bone metabolic markers combined with BMD at the early stage of SCI.
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OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).@*METHODS@#Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).@*RESULTS@#A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.@*CONCLUSION@#The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.
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Humains , Asiatiques , Duplication chromosomique , Chromosomes humains de la paire 10 , Génétique , Variations de nombre de copies de segment d'ADN , Anomalies morphologiques congénitales du pied , Génétique , Dépistage génétique , Anomalies morphologiques congénitales de la main , Génétique , Anomalies morphologiques congénitales des membres , Génétique , PedigreeRésumé
Objective:To investigate the effects of high frequency repetitive transcranial magnetic stimulation (rTMS) on learning memory and neuroelectric activity in rats. Methods:Eight Wistar rats were randomly divided into control group (n = 4) and rTMS group (n = 4). rTMS group was stimulated 14 days by rTMS with the frequency of 5 Hz, and the stimulation intensity was 100% motor threshold. The control group did not accepted rTMS. Then, the 16 channel local field potentials (LFPs) and spikes were recorded from their prefrontal cortex (PFC) in each group during the working memory tasks. The time-frequency analysis based on the short-time Fourier transform was performed on the LFPs, and the spike was analyzed by the release rate method. Multitaper Spectral Coherence was used to analyze the Synchronization Degree of LFPs-spike. Results:In the working memory experiment, rTMS group needed less days than the control group to reach the task correction criterion (t = 2.51, P = 0.046). The energy intensity of the θ-band and γ-band of the LFPs was significantly higher in rTMS group than in the control group (t > 12.49, P < 0.001), θ-band and γ-band LFPs-spike were more synchronized (t > 8.82, P < 0.001), but there was no significant difference in the average rate of spike between groups (t = 1.73, P = 0.067). Conclusion:High frequency rTMS could increase the LFPs energy in working memory experiment, enhance cooperative coding process for LFPs and spike, and improve the working memory ability of the rats.
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[Objective] The aim of our study is to examine nodule prevalence in a population over 40 years old in order to explore the relation between prevalence of thyroid nodules and metabolic parameters.[Methods] A total of 1875 individuals who were over 40 years of age were received the questionnaire and underwent thyroid ultrasonography examinations.Height,weight,waist circumference,blood pressure were measured.Levels of fasting blood glucose,fasting serum insulin,glycated hemoglobin,blood lipids,thyroid stimulating hormone and free T4 were detected.Body mass index (BMI) and homeostasis model assessment-insulin resistance (HOMA-IR) were calculated.[Result] The study included a total of 1875 subjects (513 men and 1362 women).The age of subjects were between 41 and 113 years old,and the mean age was 57.4±7.1 years old.The prevalence of thyroid nodules was 51.2%,and the prevalence of thyroid nodules in women was significantly higher than that in men (53.4% vs.45.2%,P=0.002).The prevalence of thyroid nodules was significantly higher in subjects with hypertriglyceridemia (59.2% vs.49.5%,P=0.009) and hypertension (56.5% vs.47.8%,P< 0.001).Result of multivariate binary logistic regression revealed that hypertension (OR=1.405,P=0.002),female sex (OR=1.490,P=0.001),older age (OR=1.028,P<0.001),and hypertriglyceridemia (OR=1.589,P=0.005) were independent risk factors for thyroid nodules.The prevalence of thyroid nodules increased along with age,systolic blood pressure and serum triglyceride level.[Conclusion] The prevalence of thyroid nodules and metabolism-related diseases were high in population over 40 years old.After adjusted for age and sex,hypertriglyceridemia and hypertension were possible independent risk factors for thyroid nodules especially in women.In general,hypertriglyceridemia and hypertension might play an important role in the pathological process of thyroid nodules.
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Objective To evaluate the effect of neoadjuvant chemotherapy by different arteriovenous ways on ovarian function of patients with locally advanced cervical cancer after surgery. Methods We retrospectively studied 38 cases of young women (surgical age 0. 05) compared with those before chemotherapy. the E2 , FSH and LH levels in group B at different time points presented no significant difference (P>0. 05). Only E2 level in group A was significantly lower than that in group B before surger-y. Conclusion For patients with locally advanced cervical cancer, the effect of arterial embolization chemotherapy before sur-gical intervention on ovarian function is transient and reversible, while intravenous chemotherapy before surgery exerts few effects on ovarian function. Retaining ovaries in radical hysterectomy is a safe and effective method to protect the endocrine function for young patients with locally advanced cervical cancer.
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Objective To evaluate the optimal dosage of misoprostol administered in the rectum for dilation of the cervix. Methods Two hundred and forty women at 40-60 day gestational age without vaginal delivery history were randomly divided into three groups,with 80 cases in each group. Patients received 200,400 or 600μg of misoprostol rectally one hour before electrical vacuum abortions in group A,B and C,respectively. Cervical dilation,blood loss,and drug side effects in the three groups were compared. Venous blood samples were taken before vein anesthesia,and misoprostol acid concentration in the serum was tested by liquid chromatography-mass spectrometry. Results The analgesic rate was 100. 00%in all three dose groups, and cervical dilation rate was 23. 75%,46. 25%and 70. 00%in groups A,B and C,respectively. The severity of drug side effects such as vaginal bleeding and abdominal pain is dose-dependent. Blood concentration of misoprostal acid was(117±65),(206± 98),and(303±149)pg·mL-1 ,in groups A,B and C,respectively. Conclusion The recommended dose of misoprostol is 400 μg administered in rectum. Rectal administration of misoprostol is cheap,safe,and convenient,and therefore could be widely applied.
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<p><b>OBJECTIVE</b>To study the biological characteristics and find out the optimum condition for germination of seed of Thladiantha dubia Bunge for its standardized culturing.</p><p><b>METHOD</b>The weight per 1 000 seeds, seed moisture content and seed viability were determined. The biological characteristics were studied and germination conditions of seed of T. dubia were tested under following conditions: different seed soaking time, different temperatures (15, 20, 25, 30, 35 degrees C) and different irradiation time (0, 5, 10, 15, 20 min).</p><p><b>RESULT</b>The average length, width and thickness of T. Dubia seed were 4.96, 3.25 and 1.08 mm, respectively. The weight per 1 000 seeds was 14.03 g; the seed moisture content was 10.10%; the seed viability was 90.33%. Under the same condition of light, temperature and other factors, the seed germination percentage and germination energy were the highest after seed soaking 24 h. The suitable temperature range of seeds was form 25 degrees C to 35 degrees C. Under different irradiation time, the seed germination percentage and germination energy were the highest after irradiation 10 min. In different germinating beds, the seeds germination percentage and germination energy were the highest on paper (TP), which was 89.33%.</p><p><b>CONCLUSION</b>The optimum condition for the germination of the seed of T. dubia is seed soaking 12 h, irradiation 10 min, 25-30 degrees C on filter paper.</p>
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Cucurbitaceae , Physiologie , Germination , Effets des rayonnements , Graines , TempératureRésumé
<p><b>OBJECTIVE</b>To investigate the association of V89L polymorphism of the SRD5A2 gene with the prognostic factors of prostate cancer (PCa).</p><p><b>METHODS</b>We identified the V89L polymorphic sites of the SRD5A2 gene after Rsa-1 restriction enzyme digestion, observed the distribution of V89L (VV, VL and LL) polymorphism in 112 PCa and 89 benign prostate hyperplasia (BPH) patients, and determined the association of V89L polymorphism with the age, free PSA (fPSA), total PSA (tPSA), fPSA/tPSA ratio, tumor stage and Gleason score of the PCa patients.</p><p><b>RESULTS</b>No statistically significant differences were found in the V89L polymorphism-induced genetic risk frequencies between the PCa and BPH groups (chi2 = 3. 606, df = 2, P = 0. 165), nor any significant correlation between the genotypes of VV and VL + LL and the differences in the fPSA, tPSA, fPSA/tPSA ratio, tumor stage, Gleason score and age of the PCa patients. VV and VL + LL showed no obvious association with the prognostic factors of PCa.</p><p><b>CONCLUSION</b>V89L polymorphism is not related with the prognosis of PCa, but may be indirectly associated with its risk.</p>
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Sujet âgé , Sujet âgé de 80 ans ou plus , Humains , Mâle , Adulte d'âge moyen , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase , Génétique , Génotype , Protéines membranaires , Génétique , Stadification tumorale , Polymorphisme génétique , Pronostic , Tumeurs de la prostate , Diagnostic , Génétique , AnatomopathologieRésumé
Objective To investigate the clinicopathologic features of epithelioid angiomyolipoma of renal(REAML). Methods Six cases of REAML were analyzed by histopathological and clinical characteristics.Of the 6 cases,4 cases were solitary tumors and 2 cases were multiple lesions.The diameter of tumors was about 9 cm in average.One case had a family history of nodular sclerosis.Three cases were found adipose tissue in CT scan and diagnosed for RAML,the other 3 cases were diagnosed for renal cancer.All cases were undergone surgical approach,3 cases were undergone resection of tumors only and the other 3 were performed nephrectomy. Results Pathological characters:tumor was mainly composed of epithelioid cells presented with invasive hyperplasia of atypical pleomorphism,hyperchromatic nuclei with frequent mitotic figures,giant neoplasic cells and extensive hemorrhagic necrosis immunohistochemcial staining showing a positive HMB45 and negative of EMA,CK in most neoplasic cells.All cases were followed up for 10 to 44 months,5 cases did not recurrence and metastases;the other had lung metastasis after operation 18 months later,without any treatment the patient died 10 months later. Conclusions Most of REAMLs are benign and often misdiagnosed for renal cancer by CT scan.HMB45 is positive in immunohistochemcial staining available for diagnose.The minority of REMAL is malignant potentially and should be followed up closely.Operation is major method.
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<p><b>OBJECTIVE</b>To observe the association between melatonin (MLT) secretion and blood pressure changes during 24 hours in hypertensive patients (HPT) with (dipping) or without (non-dipping) night time blood pressure reduction.</p><p><b>METHODS</b>The 24-hour blood pressure and urine 6-SMT (6-sulfatoxymelatonin, metabolism product of MLT in urine) in the daytime and nighttime were measured in normal control subjects (n = 20), non-dipping HPT group (n = 32) and dipping HPT group (n = 36).</p><p><b>RESULTS</b>As expected, blood pressure reduction during the night was significantly lower in non-dipping HPT group compared to control and dipping HPT groups. Nighttime 6-SMT was significantly higher than daytime 6-SMT in all groups and nighttime urine 6-SMT levels and ratio of nighttime/daytime urine 6-SMT levels were significantly lower in non-dipping HPT group compared to control and dipping HPT groups (all P < 0.01). Moreover, ratio of nighttime/daytime urine 6-SMT levels are positively correlated blood pressure reduction during nighttime (P < 0.05) in all groups.</p><p><b>CONCLUSIONS</b>Circadian rhythm of MLT secretion is maintained but nighttime MLT secretion was significantly reduced and related to disorders of circadian rhythm of blood pressure in non-dipping HPT group.</p>
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Adulte , Sujet âgé , Femelle , Humains , Mâle , Adulte d'âge moyen , Pression sanguine , Physiologie , Études cas-témoins , Rythme circadien , Hypertension artérielle , Urine , Mélatonine , UrineRésumé
<p><b>OBJECTIVE</b>To investigate the comparison method on internal control of hematology analyzer by using fresh blood.</p><p><b>METHODS</b>The hematology analyzer with well function was selected as the reference analyzer, fresh blood samples from healthy subjects were measured by reference analyzer and the values were used to calibrate compared hematology analyzers. The acceptable limits of relative deviation of WBC,RBC, HGB,HCT, PLT were established by comparative experiments during three months. The results of fresh blood samples from patients with low/medium/high levels measured by compared analyzer were compared with those from reference analyzer, the relative deviation of WBC, RBC, HGB, HCT, PLT was calculated respectively. The internal quality control charts in laboratory information system were established, with date as x-axis, relative deviation as y-axis. The acceptable relative deviation limits were set to be +/-2 s, and to be used for laboratory quality control.</p><p><b>RESULT</b>The relative deviation of WBC, RBC, HGB, HCT, PLT with high, medium, low levels were(0.75+/-2.964)%, (1.19+/-2.488)%,(1.43+/-2.439)%; (-0.39+/-1.327)%, (-0.26+/-1.297)%, (-0.35+/-1.095)%û(-0.43+/-1.393)%, (-0.17+/-1.139)%, (0.24+/-1.166)%û(-.43+/-1.362)%, (-0.36+/-1.381)%, (-0.57+/-1.299)%û(-0.93+/-4.330)%,(0.04+/-4.118)%, (-0.41+/-4.149)%, respectively in 2006. As the second instrument, the compared analyzer was involved in College of American Pathologists Proficiency Testing with satisfactory results, the bias of WBC,RBC, HGB, HCT, PLT were within (-0.5 approximately 5.1)%, (-1.0 approximately 1.6)%, (-1.7 approximately 1.4)%, (-1.5 approximately 1.3)%, (-4.5 approximately 7.4)%, respectively.</p><p><b>CONCLUSION</b>The quality control on compared hematology analyzer can be effectively, conveniently and economically performed using this method.</p>
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Humains , Analyse automatique , Méthodes , Sang , Numération des érythrocytes , Hématologie , Méthodes , Normes de référence , Hémoglobines , Numération des leucocytes , Numération des plaquettes , Contrôle de qualité , Normes de référence , Poids et mesuresRésumé
Objective Association between the 45T/G and 276G/T single nueleotide polymorphisms of adiponectin gene and the occurrence of type 2 diabetes in Chinese population was studied. Methods 20 studies consisting 22 ease-control comparisons about 45T/G polymorphism and nine case-control studies about 276G/T polymorphism that were based on our inclusion criterion and available in the literature were reviewed. Results Results from Meta-analysis demonstrated a large heterogeneity among the studies both on 45T/G and 276G/T polymorphisms and a significant association was observed between 45T/G polymorphism at exon 2 of the adiponectin gene and type 2 diabetes among the Chinese population. 45Gallele appeared to be one of the genetic risk factors for susceptibility to type 2 diabetes with a random effects odds ratio ( OR ) of 1.43 ( 95 % CI : 1.17-1.75 ), and the G allele carriers were more susceptible to the disease with an OR of 1.38 ( 95 % CI : 1.04-1.84 ). Results from Meta-analysis, however, showed no association between the 276G/T polymorphism and type 2 diabetes in the Chinese populationr while the random effects OR of the allele 276T to susceptibility of disease was 0.83 (95% CI: 0.61-1.13).Conclusion The current paper on Meta-analysis demonstrated a correlation between the 45T/G single nucleotide polymorphism and the occurrence of type 2 diabetes in Chinese population, which was different from the findings that such an association with 276G/T polymorphism could not be demonstrated in the same ethnic population.
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<p><b>OBJECTIVE</b>The results of studies on association between -148C/T polymorphism in promoter region of beta-fibrinogen gene and susceptibility to cerebral infarction in Chinese population are controversial. In this study, we summarize the results of published works in this field by a meta-analysis. Data sources Genetic association studies evaluating the beta-fibrinogen gene -148C/T polymorphisms and cerebral infarction involving Chinese population published before December 2005 were collected from PubMed, EMBASE and CNKI. Study selection Case control studies involving unrelated, Han subjects aged from 18 to 80 years, and the internationally recognized diagnostic standard of cerebral infarction and genotype frequencies in control group consistent with Hardy-Weinberg equilibrium were used. Publication bias was tested by funnel plot and the odds ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis.</p><p><b>RESULTS</b>Eleven studies including 1223 patients and 1433 controls met the selection criteria. There was no heterogeneity among the odds ratios (ORs) of individual studies (chi(2) = 17.82, P = 0.06). The combined OR of susceptibility to cerebral infarction in -148T allele carriers compared to the wild homozygote was 1.32 (95% CI 1.12 to 1.55, P = 0.0008). In the patients with cerebral infarction, the average plasma fibrinogen level of allele T carrier was 0.42 g/L (95% CI 0.29 to 0.54, P < 0.001), higher than that of -148C/C homozygous ones.</p><p><b>CONCLUSIONS</b>beta-fibrinogen gene -148C/T polymorphism might contribute to susceptibility to cerebral infarction in Han Chinese. To reach a definitive conclusion, further gene to gene and gene to environment interactions studies on beta-fibrinogen polymorphisms and cerebral infarction with large sample size are required.</p>
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Humains , Infarctus cérébral , Génétique , Chine , Ethnologie , Fibrinogène , Génétique , Prédisposition génétique à une maladie , Polymorphisme génétiqueRésumé
<p><b>OBJECTIVE</b>To evaluate the correlation between the beta-fibrinogen gene-455G/A polymorphism and cerebral infarction in Chinese population by means of meta-analysis.</p><p><b>METHODS</b>Genetic association studies on evaluating the beta-fibrinogen gene -455G/A polymorphism and cerebral infarction involving Chinese population published before December 2005 were collected from database of PubMed, EMBASE, and CNKI. All the data in literature were abstracted based on the defined selection criteria by two independent investigators. Publication bias was tested by funnel plot and the odd ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis.</p><p><b>RESULTS</b>Eleven studies including 1405 patients and 1600 controls met the selection criteria. There was no publication bias in 11 reviewed studies. Heterogeneity test of reviewed studies showed statistically significant differences (chi2=24.58, P=0.006) among the ORs of individual studies. The combined OR of 11 studies of susceptibility to cerebral infarction in -455A allele carriers compared with the -455G/G wild homozygotes was 1.33 (95%CI 1.04-1.71, P=0.02). In the patients with cerebral infarction in 6 studies, the summarized average plasma fibrinogen level of allele A carrier was 0.29 g/L (95%CI 0.14-0.44, P=0.0002) higher than that of -455G/G homozygous ones.</p><p><b>CONCLUSIONS</b>beta-fibrinogen gene -455G/A polymorphism might contribute to susceptibility of cerebral infarction in Chinese population; allele A increases the individual susceptibility to the disease.</p>
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Humains , Asiatiques , Génétique , Infarctus cérébral , Sang , Fibrinogène , Génétique , Polymorphisme génétiqueRésumé
<p><b>BACKGROUND</b>The decreased degradation of extra-cellular matrix proteins plays an important role in the onset of diabetic nephropathy. Matrix metalloproteinase-9 (MMP-9) and tissue inhibitor of metalloproteinase-1 (TIMP-1), which are members of the matrix metalloproteinase family, are associated with this process. Angiotensin II (AII) plays an important role in the development of diabetic nephropathy also. This research aimed to investigate the effect of angiotensin II receptor blocker on glucose-induced mRNA expressions of MMP-9 and TIMP-1 in rat mesangial cells.</p><p><b>METHODS</b>Rat mesangial cells were cultured and divided into 5 groups: normal glucose (group NG), high glucose (group HG), group NG + AII, NG + AII + saralasin (group NG + AII + S, saralasin is the AII receptor blocker) and HG + saralasin (group HG + S). After the cells were incubated for 24 hours, AII concentrations in the supernatant were measured by radioimmunoassay and the expression of MMP-9 and TIMP-1 mRNA was assayed by reverse transcription-polymerase chain reaction (RT-PCR).</p><p><b>RESULTS</b>AII concentrations were higher in group HG ((56.90 +/- 13.54) pg/ml) and group HG + S ((51.30 +/- 5.96) pg/ml) than in group NG ((37.89 +/- 8.62) pg/ml, P < 0.05), whereas there was no significant difference between group HG and group HG + S. The expression of MMP-9 mRNA and MMP-9/TIMP-1 mRNA ratio in group NG + AII (MMP-9, 0.33 +/- 0.04; MMP-9/TIMP-1, 0.40 +/- 0.06) and group HG (MMP-9, 0.36 +/- 0.02; MMP-9/TIMP-1, 0.45 +/- 0.03) were decreased more significantly than those in group NG (MMP-9, 0.72 +/- 0.02; MMP-9/TIMP-1, 1.21 +/- 0.07). These values in group NG + AII + S (MMP-9, 0.71 +/- 0.02; MMP-9/TIMP-1, 1.18 +/- 0.05) were higher than those in group NG + AII, and the values in group HG + S (MMP-9, 0.71 +/- 0.02; MMP-9/TIMP-1, 1.16 +/- 0.05) were higher than those in group HG (all were P < 0.05). TIMP-1 mRNA expression was increased more significantly in group NG + AII (0.81 +/- 0.03) and group HG (0.80 +/- 0.03) than in group NG (0.59 +/- 0.02), but it was lower in group NG + AII + S (0.60 +/- 0.01) than in group NG + AII and also lower in group HG + S (0.61 +/- 0.01) than in group HG (all were P < 0.05).</p><p><b>CONCLUSIONS</b>High glucose stimulates AII production. Both high glucose and AII induce a decrease in MMP-9 mRNA expression and MMP-9/TIMP-1 mRNA ratio as well as an increase in TIMP-1 mRNA expression, which can be reversed by saralasin, suggesting that high glucose can aggravate impaired matrix degradation by altering gene expression of MMP-9 and TIMP-1 and that the effect of high glucose may be mediated by AII.</p>
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Animaux , Rats , Antagonistes du récepteur de type 1 de l'angiotensine-II , Pharmacologie , Antagonistes des récepteurs aux angiotensines , Cellules cultivées , Expression des gènes , Glucose , Pharmacologie , Matrix metalloproteinase 9 , Génétique , Cellules mésangiales , Biologie cellulaire , Métabolisme , ARN messager , Génétique , Métabolisme , RT-PCR , Saralasine , Pharmacologie , Inhibiteur tissulaire de métalloprotéinase-1 , GénétiqueRésumé
<p><b>BACKGROUND</b>Some single nucleotide polymorphisms (SNPs) in the peroxisome proliferator-activated receptor-gamma coactivator (PGC)-1alpha gene have been reported to be associated with type 2 diabetes in different populations, and studies on Chinese patients yielded controversial results. The objective of this case-control study was to explore the relationship between SNPs of PGC-1alpha and type 2 diabetes in the southern Chinese population and to determine whether the common variants: Gly482Ser and Thr394Thr, in the PGC-1alpha gene have any impacts on interaction with myocyte enhancer factor (MEF) 2C.</p><p><b>METHODS</b>The SNPs in all exons of the PGC-1alpha gene was investigated in 50 type 2 diabetic patients using polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and direct sequencing. Thereafter, 263 type 2 diabetic patients and 282 healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). A bacterial two-hybrid system and site-directed mutagenesis were used to investigate whether Gly482Ser and Thr394Thr variants in the PGC-1alpha gene alter the interaction with MEF2C.</p><p><b>RESULTS</b>Three frequent SNPs (Thr394Thr, Gly482Ser and Thr528Thr) were found in exons of the PGC-1alpha gene. Only the Gly482Ser variant had a different distribution between diabetic patients and healthy subjects, with the 482Ser allele more frequent in patients than in controls (40.1% vs 29.3%, P < 0.01). Even in controls, the 482Ser (A) carriers were more likely to have higher levels of total cholesterol and low-density lipoprotein cholesterol than the 482Gly (G) carriers. The 394A-482G-528A haplotype was associated with protection from diabetes, while the 394A-482A-528A was associated with the susceptibility to diabetes. The bacterial two-hybrid system and site-directed mutagenesis revealed that the 482Ser variant was less efficient than the 482Gly variant to interact with MEF2C, whereas the 394Thr (A) had a synergic effect on the interaction between 482Ser variant and MEF2C.</p><p><b>CONCLUSIONS</b>The results suggested that the 482Ser variant of PGC-1alpha conferred the susceptibility to type 2 diabetes in the southern Chinese population. The underlying mechanism may be attributable, at least in part, to the altered interaction between the different variants (Gly482Ser, Thr394Thr) in the PGC-1alpha gene and MEF2C.</p>
Sujets)
Sujet âgé , Femelle , Humains , Mâle , Adulte d'âge moyen , Asiatiques , Génétique , Chine , Diabète de type 2 , Ethnologie , Génétique , Génotype , Protéines du choc thermique , Génétique , Métabolisme , Facteurs de transcription MEF2 , Facteurs de régulation myogènes , Métabolisme , Coactivateur 1-alpha du récepteur gamma activé par les proliférateurs de peroxysomes , Réaction de polymérisation en chaîne , Polymorphisme de nucléotide simple , Polymorphisme de conformation simple brin , Liaison aux protéines , Facteurs de transcription , Génétique , MétabolismeRésumé
<p><b>OBJECTIVE</b>The correlation were studied between testosterone 5-alpha-reductase II (SRD5A2) gene polymorphisms and prognosis factors.</p><p><b>METHODS</b>V89L and A49T variants was identified with Mwo1 and Rsa1. The differences of V89L and A49T between cancer of prostate (CaP) and benign prostatic hyperplasia (BPH) were studied. In addition, we also researched the association of polymorphisms with age of onset, free prostate specific antigen (FPSA), total PSA (TPSA), FPSA/TPSA (F/T), Gleason score, and T stage in cancer group.</p><p><b>RESULTS</b>We found no differences of V89L and A49T polymorphisms between CaP and BPH. In CaP group the A49T variant was associated with lower age of onset (P = 0.03) and higher Gleason score (P = 0.015). There were no differences between VV and VL+LL polymorphisms with any of the characteristics studied. When the characteristics above were regarded as two-level discrete variable, there were no differences by A49T and V89Lvariants.</p><p><b>CONCLUSION</b>In CaP group, the AT+TT genotype was perhaps associated with poor prognosis. VL+LL genotype has no relation with prognosis.</p>
Sujets)
Sujet âgé , Sujet âgé de 80 ans ou plus , Humains , Mâle , Adulte d'âge moyen , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase , Génétique , Fréquence d'allèle , Prédisposition génétique à une maladie , Génotype , Stadification tumorale , Polymorphisme génétique , Pronostic , Antigène spécifique de la prostate , Sang , Hyperplasie de la prostate , Génétique , Tumeurs de la prostate , Sang , Génétique , AnatomopathologieRésumé
<p><b>OBJECTIVE</b>To establish a fluorogenic probe quantitative RT-PCR (FQ-RT-PCR) method for detection of bcr/abl mRNA fusion gene expression level in leukemia cells, and provide a useful tool for leukaemia diagnosis and minimal residual disease inspectation.</p><p><b>METHOD</b>The conventional RT-PCR was used to amplify bcr/abl gene from cultured K562 cells, the quantitative standard template was constructed with A-T clone method. The fluo-rogenic quantitative RT-PCR method by using Applied Biosystems 7700 Sequence Detector for detecting the expression of bcr/abl fusion gene was successfully. The sensitivity, stability and repetitiveness of this method was determined. The peripheral blood samples from 14 CML patients, one of whom before and one month after bone marrow transplantation (BMT) and 4 cases of ALL in the early stages were detected.</p><p><b>RESULTS</b>The sensitivity of FQ-RT-PCR for detecting bcr/abl fusion gene was about 10(-5) micro g RNA from K562 cell and 10 copies recombined plasmid. The repetition CT value (cycle threshold) and the coefficient variation (CV) among tubes and batches were 2.0% and 3.7%, respectively. The median bcr/abl fusion gene expression level of 14 CML patients was 5.15 x 10(4) copies/ micro g RNA. The products analyzed by electrophoresis showed that 11 cases were b2a2 and 3 cases b3a2. 1.2 x 10(5) copies/ micro g RNA in one CML patient before BMT was changed to 2.3 x 10(3) copies/ micro g RNA one month after BMT. B2a2 was observed in one of the four (25.0%) patients with ALL, and its level of expression was 8.2 x 10(5) copies/ micro g RNA.</p><p><b>CONCLUSION</b>The established FQ-RT-PCR method is sensitive, specific, reliable, accurate and good at repetitiveness. The results expressed in copies were easy for evaluation and comparation. Two different bcr/abl fusion gene form - b2a2, b3a2 can be detected by the method. It can be widely applied to diagnosis and detection of minimal residual disease for CML and some ALL patients.</p>