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Objective:To investigate the clinical characteristics and genetic mechanism of a patient with gout and hyperlipidemia.Methods:Clinical data of patient and his parents were collected in details, including their medical histories, physical examination results, and laboratory tests. DNA was extracted from the peripheral blood of the patient and their parents for whole exome sequencing. Protein function was predicted for new mutations.Results:The patient was a 22-year-old male with typical clinical manifestations of hypoglycemia, hyperuricemia, gout, and hyperlipidemia. c. 260delG(p.V88Ffs*13)frameshift mutation was detected in the second exon of the patient′s glucose-6-phosphatase(G6PC) gene, and c. 532C>G(p.P178A)missense mutation was detected in the fourth exon. The father and mother of the patient were heterozygotes carrying c. 260delG(p.V88Ffs*13)and c. 532C>G(p.P178A)mutations, respectively. Protein structure prediction showed that mutations were able to cause protein structure changes. The patient was diagnosed as glycogen storage disease type Ⅰa(GSD-Ⅰa)with secondary gout.Conclusions:The compound heterozygous mutation of G6PC gene is the pathogenic basis of this gout patient. The discovery of the new pathogenic mutation c. 260delG(p.V88Ffs*13)of the G6PC gene broadened the spectrum of pathogenic genes of GSD-Ⅰa and gout in Chinese patients.
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Objective:To investigate the relationship between tophi detected by ultrasound and smoking.Methods:A total of 863 male gout patients over 18 years old in Shanghai Jiaotong University Affiliated Sixth People′s Hospital were selected. According to the results of ultrasound, patients were divided into two groups: non-tophi group ( n=527) and tophi group ( n=336). Independent sample t-test, Mann-Whitney U test or chi-square test were used for between-group comparison. Binary logistic regression was used to analyze independent influencing factors. Results:The proportion of smokers in non-tophi group and tophi group was 43.3% vs 65.5% respectively. There was significant difference between two groups ( P<0.01). With the increase of smoking index, the prevalence of tophi increases gradually ( P<0.05), so did the prevalence of multiple tophi as well as the number and size of gouty stone ( P<0.05). The proportion of tophi in other joints of foot in smokers was significantly higher than that in non-smokers ( P<0.05). The stratified analysis of smoking index showed that when 0<smoking index≤400 and smoking index>400, the risk of developing gout was increased by 1.195 and 1.779 times, respectively ( OR=2.195, 95% CI 1.507-3.197, P<0.01; OR=2.779, 95% CI 1.761-4.385, P<0.01). Conclusion:Smoking is a risk factor for the occurrence of gouty stone. Patients with gout who smoke should quit smoking as soon as possible to reduce the risk of tophi.
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Objective:To investigate the clinical features and influencing factors of early-onset gout.Methods:Male patients with gout admitted to Department of Endocrinology and Metabolism were recruited from 2015 to 2018. Patients with gout onset before age 30 were defined as the " early-onset" group, and those with onset at 30~60 years were defined as the "late-onset" group. Clinical characteristics were compared between two groups. Factors associated with early-onset gout were analyzed.Results:A total of 1 243 male patients were enrolled in this study; 480 individuals were in the early-onset, and 763 in the late-onset groups. Compared with the late-onset group, patients with early-onset gout had higher consumption rates of sugar-sweetened beverage(28.0% vs 15.0%, P=0.001), a higher homeostasis model assessment for insulin resistance level(3.78±2.93 vs 3.10±2.39, P<0.01), and larger proportions of family histories of diabetes(30.8% vs 20.4%, P<0.01)and hypertension(51.2% vs 42.6%, P=0.003). Logistic regression analysis showed that factors associated with early-onset gout were drinking sugar-sweetened beverage( P=0.012), family history of diabetes( P=0.037). Conclusion:Early-onset gout was associated with a family history of diabetes. Patients with family histories of diabetes are more likely to have early-onset gout, which may be associated with a common genetic basis.
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Objective:To investigate the relationship between psychological stress related factors in life events and serum uric acid levels in patients with hyperuricemia.Methods:The life events scale was used to qualitatively and quantitatively analyze the mental stimulation of 60 hyperuricemia patients. The laboratory analysis, as well as correlation analysis and multivariate regression analysis, were used to compare the general data and biochemical indicators of patients under different pressures.Results:Patients with a total score of 20 or less on the life event scale were included in the low-pressure group, and the total score greater than 20 points in the high-pressure group. The highest frequency of positive and negative life events were outstanding achievement and stress in work and study. The frequency of gout attacks and cholesterol, triglyceride, serum creatinine, serum uric acid, and cortisol levels in the high-pressure group were significantly higher than those in the low-pressure group ( P<0.05). The positive life event stimulation was positively correlated with cholesterol and triglyceride, and the negative life event stimulation was positively correlated with uric acid. In the multivariate linear regression analysis with serum uric acid as the dependent variable, the frequency of gout attacks and the stress group finally entered the regression model in the last year. The regression model had statistical significance F(2, 54)=27.765( P<0.01), adjusted R2=0.522. Conclusions:In patients with hyperuricemia who are greatly stimulated in family life and work in life events, mental stress is related with elevated levels of cholesterol, triglycerides and serum uric acid. Elevated triglycerides and cholesterol are related to positive life events, and the rise of blood uric acid is related to negative life events. For patients with hyperuricemia, high-stress and frequent gouts are associated with higher levels of serum uric acid.
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Objective@#To investigate the relationship between psychological stress related factors in life events and serum uric acid levels in patients with hyperuricemia.@*Methods@#The life events scale was used to qualitatively and quantitatively analyze the mental stimulation of 60 hyperuricemia patients. The laboratory analysis, as well as correlation analysis and multivariate regression analysis, were used to compare the general data and biochemical indicators of patients under different pressures.@*Results@#Patients with a total score of 20 or less on the life event scale were included in the low-pressure group, and the total score greater than 20 points in the high-pressure group. The highest frequency of positive and negative life events were outstanding achievement and stress in work and study. The frequency of gout attacks and cholesterol, triglyceride, serum creatinine, serum uric acid, and cortisol levels in the high-pressure group were significantly higher than those in the low-pressure group (P<0.05). The positive life event stimulation was positively correlated with cholesterol and triglyceride, and the negative life event stimulation was positively correlated with uric acid. In the multivariate linear regression analysis with serum uric acid as the dependent variable, the frequency of gout attacks and the stress group finally entered the regression model in the last year. The regression model had statistical significance F(2, 54)=27.765(P<0.01), adjusted R2=0.522.@*Conclusions@#In patients with hyperuricemia who are greatly stimulated in family life and work in life events, mental stress is related with elevated levels of cholesterol, triglycerides and serum uric acid. Elevated triglycerides and cholesterol are related to positive life events, and the rise of blood uric acid is related to negative life events. For patients with hyperuricemia, high-stress and frequent gouts are associated with higher levels of serum uric acid.
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Objective To evaluate and compare the difference of xanthine oxidase ( XO) activity between patients with hyperuricemia and healthy people, and to analyze the influencing factors. Methods A total of 129 male patients with hyperuricemia were selected to hyperuricemia group, including 112 patients with gout and 17 patients with hyperuricemia alone. Simultaneously, 95 male healthy volunteers were randomly selected as the control group. Serum XO activity was determined by enzyme-linked immunosorbent assay (ELISA). Independent t-test was used for pairwise comparison, and multivariate linear regression analysis was used to analyze independent influencing factors. Results Compared with the normal control group, the XO activity of patients with hyperuricemia showed a significant increase [(159.6 ± 4.0 vs 138.7 ± 7.5) U/L, P<0.05]. Correlation analysis showed that XO activity positively associated with body mass index, waist-to-hip ratio, diastolic blood pressure, total cholesterol, serum uric acid, creatinine, fasting blood glucose, and uric acid clearance rate level. In the stepwise multivariate regression analysis, XO activity was used as the dependent variable. The results showed that waist-to-hip ratio and uric acid clearance rate were the influencing factors of XO activity. Conclusion Hyperuricemia patients showed elevated XO activity, with obesity, especially abdominal obesity, an independent risk factor for XO activity; suggesting that controlling of abdominal obesity may play a positive role in the treatment of hyperuricemia.
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Objective@#To evaluate and compare the difference of xanthine oxidase (XO)activity between patients with hyperuricemia and healthy people, and to analyze the influencing factors.@*Methods@#A total of 129 male patients with hyperuricemia were selected to hyperuricemia group, including 112 patients with gout and 17 patients with hyperuricemia alone. Simultaneously, 95 male healthy volunteers were randomly selected as the control group. Serum XO activity was determined by enzyme-linked immunosorbent assay (ELISA). Independent t-test was used for pairwise comparison, and multivariate linear regression analysis was used to analyze independent influencing factors.@*Results@#Compared with the normal control group, the XO activity of patients with hyperuricemia showed a significant increase [(159.6±4.0 vs 138.7±7.5)U/L, P<0.05]. Correlation analysis showed that XO activity positively associated with body mass index, waist-to-hip ratio, diastolic blood pressure, total cholesterol, serum uric acid, creatinine, fasting blood glucose, and uric acid clearance rate level. In the stepwise multivariate regression analysis, XO activity was used as the dependent variable. The results showed that waist-to-hip ratio and uric acid clearance rate were the influencing factors of XO activity.@*Conclusion@#Hyperuricemia patients showed elevated XO activity, with obesity, especially abdominal obesity, an independent risk factor for XO activity; suggesting that controlling of abdominal obesity may play a positive role in the treatment of hyperuricemia.
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Objective Using dynamic glucose monitoring system to investigate the influence of dynamic glucose excursion onthe serum cystatin C (Cys-C) in patients with type 2 diabetes mellitus (T2DM).Methods A total of 164 hospitalized patients with T2DM were selected in this study.All the patients underwent continuous 72 hours dynamic glucose monitoring.The parameters of glucose excursion were calculated,including blood glucose standard deviation (SD),and average blood glucose level (MBG).According to the monitoring results,the patients were divided into two groups:high blood glucose excursion groupand low blood glucose excursion group.Cys-C level and other biochemical parameters were detected.Then the correlation of SD and Cys-C was analyzedin the two groups.Results There were significant difference in age,urea nitrogen (BUN),serum uric acid (SUA),glomerular filtration rate (eGFR),and Cys-C levels between the two groups (P＜ 0.05).The mean value of Cys-C and the percentage of high Cys-C level were higher in high blood glucose excursion group than in low blood glucose excursion group.There was a positive correlation between SD and Cys-C (r=0.344,P＜0.01) in the whole group as well as in high blood glucose excursion group and low blood glucose excursion group (r=0.604,0.331,P＜0.01).The incidence of diabetic peripheral arterial disease(PAD),diabetic peripheral neuropathy(DPN),diabetic retinopathy(DR),DKD were higher in high blood glucose excursion groupthan in the low blood glucose excursion group.Multivariate stepwise regression analysis showed that WC,GA,FPG,FIns,SUA,eGFR,and SD were in dependent risk factors for Cys-C,and among them,SD had the greatest contribution(β=0.112,SE=O.025,P=0.000).Conclusion The dynamic glucose excursion is positively correlated with Cys-C in patients with T2DM.The greater the blood glucose excursion,the higher the Cys-C level.
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[Summary] Hyperuricemia is a syndrome caused by increased production or reduced excretion of uric acid which is characterized by oliguria, anuria, and uremia. Recent studies found that hyperuricemia was correlated with the risk, recurrence, metastasis, and prognosis of cancer. The mechanism may be uric acid associated chronic inflammation and decrease of xanthine oxidoreductase expression in cancer cells. Current treatment of hyperuricemia is to reduce the production of uric acid by inhibition of xanthine oxidoreductase, but the side effects of systemic inhibition of xanthine oxidoreductase received more and more attention. These unwanted side effects underscore the urgent need for mechanism based preclinical studies that can identify optimal strategies for management of hyperuricemia in relevant cancer models.
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A total of 216 patients with type 2 diabetes mellitus and their family members were randomly divided into intervention and control groups.On the basis of conventional drug therapy,for intervention group,the patients and their family members were instructed to participate in health education activities and self-monitoring guidance.For control group,only patients were required to participate.The intervention continued for 12 months.Compared with control group,the intervention group significantly improved their living habits and the level of knowledge structure.The levels of low-density lipoprotein (LDL),2 h postprandial blood glucose and glycated hemoglobin improved after intervening.And there were statistically significant differences (P ＜ 0.05).The family members of patients had more knowledge of identifying and dealing with low blood sugar while their knowledge of medication and regular monitoring was significantly better than that of control group.And there were statistically significant differences (P ＜ 0.05).Family-involved diabetic management is conducive for forming diabetic self-management behaviors.
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Hypogonadotropic hypogonadism (HH) is a heterogeneous group of diseases with variable clinical manifestations.Currently,the primary treatment of HH is hormone replacement therapy,including testosterone replacement for induction of pubertal development and gonadotropin therapy or pulse GnRH administration for induction of spermatogenesis.
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Objective To observe the occurrence and risk factors of arrhythmia in chronic kidney disease (CKD) patients in different stages of renal function. Methods A total of 405 CKD patients were enrolled in this study and none of them received renal replacement therapy.The 24 h dynamic electrocardiogram (DCG) was performed,and baseline characteristics were compared.Multivariable Logistic regression analysis was used to examine the relationship between the severe arrhythmia and the potential risk factors,such as age,gender,CKD stage,diabetes,hypertension,hyperpotassaemia,left ventricular hypertrophy (LVH),etc. Results There were 69 patients (17.04％),79 patients (19.51％),82 patients (20.25％),88 patients (21.73 ％) and 87 patients (21.48％) in CKD stage 1,2,3,4 and 5,respectively.As high as 45.68％ of all the patients had severe arrhythmia,represented by 27.54％,29.11％,42.68％,57.95％ and 65.52％ in CKD stages 1-5 respectively.The occurrence of severe arrhythmia increased as the eGFR decreased in CKD stages 2,3,4 (p＜0.05).On multivariable Logistic regression analysis,the occurrence of severe arrhythmia was related to LVH,CKD stage,diaberes hyertension and hyperpotassaemia are signidicantly assoxiated with severe arrhythmia.
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Objective:To detect the activity of telomerase in pleural effusion, providing data for clinical diagnosis. Methods: The cells of tuberculous and cancerous pleural effusion were collected from 104 patients. TRAP PCR ELISA methods were used to detect the activity of telomerase. Results: The relative activity of telomerase in 54 cases of malignant pleural effusion (0.396?0.018) was obviously higher than that in the tuberculosis pleural effusion (0.003?0.021) ( P