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1.
Chinese Journal of Experimental Ophthalmology ; (12): 698-703, 2020.
Article in Chinese | WPRIM | ID: wpr-865339

ABSTRACT

Objective:To investigate whether the presence of complement factor H( CFH) gene polymorphisms is associated with unexplained mild visual loss (UMVL) in type 2 diabetes mellitus patients. Methods:A case control study was adopted.The participants included two groups from a previous population-based epidemiology study on type 2 diabetes mellitus patients in the Beixinjing community, Shanghai: UMVL was defined by a best corrected visual acuity(BCVA)<20/25 and≥20/63 in both eyes, with no eye diseases causing visual impairment, such as corneal diseases, cataract, age-related macular degeneration, glaucoma, optic nerve atrophy, diabetic retinopathy, etc.Genomic DNA was isolated from the peripheral venous blood of all the participants and then loaded onto Fluidigm Digital Arrays.Four CFH gene single nucleotide polymorphisms (SNPs)(rs800292, rs1061170, rs529825, rs1410996, rs203674) were assessed with the SPSS 13.0 and HAPLoVIEW 4.0 software to test the statistical association of CFH polymorphisms with UMVL.The study protocol was approved by the Ethics Committee of Shanghai General Hospital, Shanghai Jiaotong University(No.2013KY023). All the procedures were conducted according to the tenets of the Declaration of Helsinki.Written informed consent was obtained from each subject prior to entering the study cohort. Results:Total of 135 residents with UMVL and 133 with normal vision(BCVA≥20/25 in both eyes) were enrolled.The UMVL group matched the control group in terms of gender, age, onset age, and duration of diabetes mellitus, hemoglobin A1c levels, and body mass index(all at P>0.05). The four SNPs(rs800292, rs1061170, rs529825, rs1410996) except rs203674 tested in the UMVL and control groups were qualified by the Hardy-Weinberg equilibrium ( P>0.05). There were no differences in SNPs and genotypes between the two groups in the four loci of the CFH gene.The P value of allele frequencies of rs529825, rs800292, rs1410996 and rs1061170 were 0.79, 0.25, 0.69 and 0.77, respectively, and the P value of genotype frequencies were 0.61, 0.69, 0.87 and 0.43, respectively. Conclusions:There is no correlation between CFH gene polymorphism and UMVL in type 2 diabetic patients.

2.
Chinese Journal of Nervous and Mental Diseases ; (12): 356-360, 2019.
Article in Chinese | WPRIM | ID: wpr-753927

ABSTRACT

Objective To explore the correlation between exon region polymorphism of PPP1R3A gene and schizophrenia in Uygur Chinese population. Methods PPP1R3A gene exon region DNA amplification was performed using multiple PCR targeted capture next-generation sequencing method in 528 patients with schizophrenia and 576 healthy controls of Uyghur descent, Illumina HiSeq X Ten was used for sequencing, the symptoms of schizophrenia were assessed by positive and negative symptoms scale (PANSS). Results The allelic and genotypic distributions in rs1800000 of PPP1R3A gene between patients with schizophrenia and healthy controls had significant difference (P<0.05), rs1799999 in genotype frequency between the female case and control groups showed significant difference (P<0.05). Furthermore, the allelic distributions of rs8192686 between male cases and controls had significant difference (P<0.05). Conclusion PPP1R3A gene rs1800000 may be associated with the development of schizophrenia in Uygur Chinese population; rs1799999 may be a risk factor for susceptibility of female Uygur Chinese schizophrenia; The C allele at rs8192686 may be associated with male Uygur Chinese schizophrenia.

3.
Chinese Journal of Experimental Ophthalmology ; (12): 737-742, 2017.
Article in Chinese | WPRIM | ID: wpr-641170

ABSTRACT

Background Researches showed that elevatory blood glucose level results in long-term damage of cells and tissue,or metabolic memory phenomenon,and manipulation of hyperglycemic memory is a good approach in the prevention of diabetic complications.However,its mechanism is not clear.It is speculated that the pathogenesis of diabetic retinopathy (DR) in diabetic patients may be associated to related mechanisms.Uncoupling proteins (UCPs) can decrease the production of reactive oxygen species (ROS),which may be related to DR.Objective This study was to explore the association between DR and the single nucleotide polymorphisms (SNPs) of UCP genes in Chinese Han population with type 2 diabetes.Methods A cross-sectional study was performed.This study was approved by Ethic Committee of Affiliated First Hospital of Shanghai Jiao Tong University and complied with Declaration of Helsinki,and written informed consent was obtained from each subject prior to any medical examination.One thousand eight hundreds and seventy-five patients with type 2 diabetes mellitus were enrolled in Xinjing district of Shanghai city by cluster sampling from November 2014 to January 2015.The demographic and medical baseline characteristics,ocular examination and laboratory tests were obtained and periphery blood of 2 ml was collected for extraction of DNA.Eight tag SNPs of UCP1,three tag SNPs of UCP2,and seven tag SNPs of UCP3 were selected as marker locus for the detection of genotype by Sequenom Mass ARRAY.Matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry platform were used for genotyping.Hardy-Weinberg equilibrium (HWE) analysis,allele and genotype frequencies,haplotype analysis,and association tests for DR and SNPs were performed by SAS and SHEsis software.Results A total of 530 DR patients were checked out from 1 875 subjects with type 2 diabetes mellitus,with the detection rate of 28.27%.rs660339 locn of UCP2 gene and rs1626521,rs668514 locus of UCP3 gene appeared to have low detectable rates,and the secondary allele base frequency of rs632862 in UCP2 gene was <0.01 and rs15763 of UCP3 gene was unmatched with HWE,therefore,these locus analysis was not included.In 13 SNPs locus included in the analysis,only 2 SNPs of UCP1 gene were related to DR.Compared with the non-diabetic retinopathy (NDR) patients,the G allele frequency of rs10011540 was increased (P =0.03,OR =1.31,95 % confidence interval[CI] =1.03-1.67,and T allele frequency of rs3811787 was decreased (P=0.04,OR=0.86,95% CI=0.75-0.99) in DR patients.Genotyping detection showed that the C/C and A/A frequencies of rs3811790 in UCP1 gene were significantly more and C/A frequency was less in DR patients than those in NDR patients (all at P<0.01).The logistic regression analysis indicated an association of SNPs of rs10011540 and rs3811787 with DR independent from glucose and disease duration.Conclusions The SNPs of rs10011540 and rs3811787 locus in UCP1 gene are associated with DR in Chinese type 2 diabetes patients.

4.
The Journal of Practical Medicine ; (24): 2747-2749, 2017.
Article in Chinese | WPRIM | ID: wpr-611799

ABSTRACT

Objective To investigate the sedative effects of different doses of dexmedetomidine with mid-azolam in spinal anesthesia. Methods 130 cases of spinal anesthesia were randomly divided into 2 groups,group D1 and group D2,with 65 cases in each group. Patients in 2 groups were given midazolam and dexmedetomidine with different doses. The heart rates ,blood pressure ,SpO2 ,Narcotrend value and Ramsay sedation scores were recorded at mutiple time points. The working time ,maintaining time of sedative effect ,and adverse reactions were compared between 2 groups. Results MAP,HR and NT decreased significantly in 2 groups(P < 0.05,respec-tively). The keeping time was relatively longer in group D1 compared with group D2(P<0.05). The working time was faster in group D2 compared with group D1. The rate of bradycardia in group D2 was relatively higher than that in group D1. Conclusion Good sedative effect can be obtained by drug in 2 groups. Group D1,with midazolam 0.05 mg/kg+dexmedetomidine 0.3μg/kg,may have a certain advantage in anaesthesia in the spinal canal.

5.
Chinese Journal of Anesthesiology ; (12): 339-341, 2016.
Article in Chinese | WPRIM | ID: wpr-493080

ABSTRACT

Objective To evaluate the effects of age factors on sedation induced by dexmedetomidine.Methods One hundred and thirty-nine patients,aged 18-103 yr,with body mass index ≤ 30 kg/m2,scheduled for elective surgeries on lower abdomen or lower extremities,were divided into4 groups according to the age:group Ⅰ (18 yr≤age≤44 yr,n=40);group Ⅱ (45 yr≤age≤59 yr,n=38);group Ⅲ (60 yr≤age≤89 yr,n=39);group Ⅳ (≥90 yr,n=22).A catheter was placed in the subarachnoid space at L3,4 interspace,and ropivacaine 10-20 mg was injected via the catheter.At 20 min after ropivacaine injection,dexmedetomidine 1 μg/kg was infused via a pump over 10 min.The onset time and duration of sedation were recorded,and the occurrence of adverse effects such as hypoxemia,bradycardia and hypotension was observed.Results There was no significant difference in the onset time of sedation and incidence of bradycardia among the 4 groups (P>0.05).Compared with group Ⅰ,the duration of sedation was significantly prolonged in Ⅱ-Ⅳ groups (P<0.05).Compared with Ⅱ and Ⅲ groups,the duration of sedation was significantly prolonged in group Ⅳ (P < 0.05).The incidence of hypoxemia and hypotension was significantly higher in group Ⅳ than in Ⅰ-Ⅲ groups (P<0.05).Conclusion Dexmedetomidine-induced sedation is influenced by age factors,the duration of sedation induced by dexmedetomidine is prolonged,and the occurrence of adverse effects is increased,especially if the patients ≥ 90 yr of age.

6.
Chinese Journal of Postgraduates of Medicine ; (36): 685-687, 2016.
Article in Chinese | WPRIM | ID: wpr-495503

ABSTRACT

Objective To investigate the anesthetic management of perventricular closure of ventricular septal defects (VSD) under transesophageal echocardiography. Methods A retrospective review of the clinical data of 52 children who underwent perventricular closure of VSD under transesophageal echocardiography were analyzed. All the children were performed tracheal intubation under general anesthesia, and the electrocardiogram, pulse blood oxygen saturation, invasive arterial pressure, central venous pressure, end tidal carbon dioxide partial pressure, temperature and urine output were continuously monitored throughout the procedure. The transesophageal echocardiography was necessary for guiding transcatheter or per-ventricular device placement. Results Perventricular closure of VSD was successfully completed in 51 children under transesophageal echocardiography, the operation time was (76.7 ± 36.4) min, the anesthesia time was (89.5 ± 27.1) min; 1 child was converted to open surgical repair. Conclusions The intraoperative transesophageal echocardiography technology is the key to the success of the surgery. At the same time of analgesia and sedation, the anesthesia doctor needs to pay attention to the changes of hemodynamics in children.

7.
Chinese Journal of Epidemiology ; (12): 1047-1052, 2015.
Article in Chinese | WPRIM | ID: wpr-248713

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the predictive power of risk model by combining traditional epidemiological factors and genetic factors.</p><p><b>METHODS</b>Our previous GWAS data of lung cancer in Chinese were used in training set (Nanjing and Shanghai: 1473 cases vs. 1962 control) and testing set (Beijing and Wuhan: 858 cases vs. 1 115 control). All the single nucleotide polymorphisms (SNPs) associated with lung cancer risk were systematically selected and stepwise logistic regression analysis was used to select independent factors in the training set. The wGRS (weighted genetic score) was further used to calculate genetic risk score. To evaluate the contribution of the genetic factors, 3 risk models were established by using the training set, i.e. smoking model (based on smoking status) , genetic risk model (based on genetic risk score) and combined model (based on smoke and genetic risk score). The predictability of the models were evaluated by the areas under the receiver operating characteristic (ROC) curves, area under curve (AUC), net reclassification improvement (NRI) and integrated discrimination index (IDI). Besides, the results were further verified in the testing set.</p><p><b>RESULTS</b>In the training set, it was found that the AUC of the smoking, genetic risk and combined models were 0.65 (0.63-0.66), 0.60 (0.59-0.62) and 0.69 (0.67-0.71), respectively. Compared with combined model, the predictive power of other two models significantly declined, the difference was statistically significant (P<0.001). Furthermore, compared with the smoking model, the NRI of the combined model increased by 4.57% (2.23%-6.91%) and IDI increased by 3.11% (2.52%-3.69%) in the training set, the difference was statistically significant (P<0.001). Similarly, in the testing set NRI increased by 2.77%, the difference was not statistically significant (P=0.069) , and IDI increased by 3.16%, the difference was statistically significant (P<0.001).</p><p><b>CONCLUSION</b>This study showed that combining 14 genetic variants with traditional epidemiological factors could improve the predictive power of risk model for lung cancer. The model could be used in the screening of high-risk population of lung cancer in Chinese and provide evidence for the early diagnosis and treatment of lung cancer.</p>


Subject(s)
Humans , Area Under Curve , Asian People , Beijing , Case-Control Studies , China , Genetic Predisposition to Disease , Genetic Variation , Genome-Wide Association Study , Lung Neoplasms , Epidemiology , Genetics , Polymorphism, Single Nucleotide , ROC Curve , Risk Factors
8.
The Journal of Practical Medicine ; (24): 3720-3722, 2014.
Article in Chinese | WPRIM | ID: wpr-461730

ABSTRACT

Objective To investigate the sedative effects and the adverse reactions in the elderly patients received different speed of dexmedetomidine (Dex) intravenous infusion. Methods Eighty elderly cases were randomly divided into four groups. Group D0 was the control group, while the group D1, D2 and D3 were the trial groups. The heart rates, blood pressure, SpO2, Ramsay sedation score and Narcotrend value were recorded. Results The sedation onset time of the D2, D3 group was faster than those in the D0 and D1 groups (P 0.05). Conclusion Intravenous infusion of Dex by doses of 0.75 ~ 1.0 μg/(kg·h) during hip surgery in the elderly patients under spinal anesthesia could lead to a safe and effective sedation.

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