Pub Date : 2020-01-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2020.01.010
J. Feng, Zhen Teng, Yunfeng Zhen, Wenjie Fei, G. Song
Objective To investigate the effect of metformin on autophagy in muscle cells exposed to palmitic acid, and to explore its mechanism. Methods L6 rat myoblasts were incubated with palmitic acid at various concentrations(0.1, 0.2, 0.4, 0.6 mmol/L) and metformin(0.5, 1, 2, 5, 10 mmol/L) for 24 h. CCK8 method was used to detect the survival rate of muscle cells. After muscle cells were treated with palmitic acid and metformin for 24 h, mRNA and protein expressions of microtubule-associated protein11ight chain3(LC3Ⅱ), Beclin 1, p62, and silent mating type information regulation2 homolog-3(SIRT3) were detected by RT-PCR and Western blot, respectively. AMP-activated protein kinase(AMPK) phosphorylation level was detected by Western blot. Results Palmitic acid dose-dependently decreased the survival rate of muscle cells, which was attenuated by metformin at the concentration of 2 mmol/L. After muscle cells were incubated with 0.4 mmol/L palmitic acid and 2 mmol/L metformin for 24 h, palmitic acid significantly reduced the mRNA and protein expressions of LC3Ⅱ, Beclin1, and SIRT3 as well as phosphorylation level of AMPK(all P<0.05), and increased p62 mRNA and protein expressions(P<0.05). Those effects were all antagonized by metformin(all P<0.05). Conclusions Metformin treatment may promote the autophagy of muscle cells exposed to palmitic acid through AMPK/STRT3 pathway. Key words: Metformin; AMP-activated protein kinase; SIRT3; Autophagy
{"title":"Metformin promotes autophagy in muscle cells exposed to palmitic acid through AMPK/SIRT3 pathway","authors":"J. Feng, Zhen Teng, Yunfeng Zhen, Wenjie Fei, G. Song","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.01.010","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.01.010","url":null,"abstract":"Objective \u0000To investigate the effect of metformin on autophagy in muscle cells exposed to palmitic acid, and to explore its mechanism. \u0000 \u0000 \u0000Methods \u0000L6 rat myoblasts were incubated with palmitic acid at various concentrations(0.1, 0.2, 0.4, 0.6 mmol/L) and metformin(0.5, 1, 2, 5, 10 mmol/L) for 24 h. CCK8 method was used to detect the survival rate of muscle cells. After muscle cells were treated with palmitic acid and metformin for 24 h, mRNA and protein expressions of microtubule-associated protein11ight chain3(LC3Ⅱ), Beclin 1, p62, and silent mating type information regulation2 homolog-3(SIRT3) were detected by RT-PCR and Western blot, respectively. AMP-activated protein kinase(AMPK) phosphorylation level was detected by Western blot. \u0000 \u0000 \u0000Results \u0000Palmitic acid dose-dependently decreased the survival rate of muscle cells, which was attenuated by metformin at the concentration of 2 mmol/L. After muscle cells were incubated with 0.4 mmol/L palmitic acid and 2 mmol/L metformin for 24 h, palmitic acid significantly reduced the mRNA and protein expressions of LC3Ⅱ, Beclin1, and SIRT3 as well as phosphorylation level of AMPK(all P<0.05), and increased p62 mRNA and protein expressions(P<0.05). Those effects were all antagonized by metformin(all P<0.05). \u0000 \u0000 \u0000Conclusions \u0000Metformin treatment may promote the autophagy of muscle cells exposed to palmitic acid through AMPK/STRT3 pathway. \u0000 \u0000 \u0000Key words: \u0000Metformin; AMP-activated protein kinase; SIRT3; Autophagy","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"72-76"},"PeriodicalIF":0.0,"publicationDate":"2020-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44785742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective To investigate the effect and mechanism of G protein coupled receptor 119 (GPR119) in regulating lipid metabolism. Methods (1) Macrophage THP-1 was induced by oxidized low density lipoprotein (oxLDL) to the formation of lipid foam cells, protein expression of GPR119, hypoxia-inducible factor-1α (HIF-1α), vascular endothelial growth factor (VEGF) were detected by Western blotting. (2) Constructing GPR119 over-expressed and low-expressed plasmids, the plasmids were transfected into THP-1 cells which induced by oxLDL. The lipid content in macrophages was observed by oil red O staining. Cholesterol efflux was detected by liquid scintillation counter. The mRNA and protein expressions of HIF-1α, VEGF were detected by reverse transcription PCR and Western blotting. (3) Constructing GPR119, HIF-1α, and VEGF over-expressed plasmids, then co-transfection of GPR119 and HIF-1α/VEGF plasmids. The lipid content in macrophages was observed by oil red O staining. Cholesterol efflux was detected by liquid scintillation counter. Results Compared with the control group, the lipid droplets were densely distributed in macrophages, with a large number and volume. The protein expression of GPR119 was significantly decreased and HIF-1α, VEGF were significantly increased in macrophages induced by oxLDL (P<0.05). After over-expression of GPR119, the lipid droplets were sparsely distributed and the number was significantly reduced in macrophages, the lipid droplets were mostly located in the area around the cells. The cholesterol efflux was significantly increased (P<0.01). The mRNA and protein expressions of HIF-1α and VEGF were significantly decreased (P<0.01). On the contrary, in the GPR119 inhibition group, the lipid droplets were densely distributed in macrophages, with a large number and volume. The lipid droplets even covered the nuclei. The cholesterol efflux was significantly reduced (P<0.05). The mRNA and protein expression of HIF-1α, VEGF were significantly increased (P<0.05). After GPR119 were co-expressed with HIF-1α and VEGF, the number of lipid droplets was increased, lipid droplets were dense and bulky in oxLDL-induce macrophages. The cholesterol efflux was inhibited. Conclusion GPR119 can regulate lipid metabolism and possibly by down-regulating the expression of HIF-1α and VEGF. Key words: GPR119; Lipid metabolism; Atherosclerosis; HIF-1α; VEGF
{"title":"Mechanism of GPR119 in regulating lipid metabolism and anti-atherosclerosis by hypoxia-inducible factor-1α/ vascular endothelial growth factor pathway","authors":"Zhiping Chen, Yufeng Wang, Jinghua Zhong, Xuxiang Xi, Xiangsheng Wu","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.12.011","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.12.011","url":null,"abstract":"Objective \u0000To investigate the effect and mechanism of G protein coupled receptor 119 (GPR119) in regulating lipid metabolism. \u0000 \u0000 \u0000Methods \u0000(1) Macrophage THP-1 was induced by oxidized low density lipoprotein (oxLDL) to the formation of lipid foam cells, protein expression of GPR119, hypoxia-inducible factor-1α (HIF-1α), vascular endothelial growth factor (VEGF) were detected by Western blotting. (2) Constructing GPR119 over-expressed and low-expressed plasmids, the plasmids were transfected into THP-1 cells which induced by oxLDL. The lipid content in macrophages was observed by oil red O staining. Cholesterol efflux was detected by liquid scintillation counter. The mRNA and protein expressions of HIF-1α, VEGF were detected by reverse transcription PCR and Western blotting. (3) Constructing GPR119, HIF-1α, and VEGF over-expressed plasmids, then co-transfection of GPR119 and HIF-1α/VEGF plasmids. The lipid content in macrophages was observed by oil red O staining. Cholesterol efflux was detected by liquid scintillation counter. \u0000 \u0000 \u0000Results \u0000Compared with the control group, the lipid droplets were densely distributed in macrophages, with a large number and volume. The protein expression of GPR119 was significantly decreased and HIF-1α, VEGF were significantly increased in macrophages induced by oxLDL (P<0.05). After over-expression of GPR119, the lipid droplets were sparsely distributed and the number was significantly reduced in macrophages, the lipid droplets were mostly located in the area around the cells. The cholesterol efflux was significantly increased (P<0.01). The mRNA and protein expressions of HIF-1α and VEGF were significantly decreased (P<0.01). On the contrary, in the GPR119 inhibition group, the lipid droplets were densely distributed in macrophages, with a large number and volume. The lipid droplets even covered the nuclei. The cholesterol efflux was significantly reduced (P<0.05). The mRNA and protein expression of HIF-1α, VEGF were significantly increased (P<0.05). After GPR119 were co-expressed with HIF-1α and VEGF, the number of lipid droplets was increased, lipid droplets were dense and bulky in oxLDL-induce macrophages. The cholesterol efflux was inhibited. \u0000 \u0000 \u0000Conclusion \u0000GPR119 can regulate lipid metabolism and possibly by down-regulating the expression of HIF-1α and VEGF. \u0000 \u0000 \u0000Key words: \u0000GPR119; Lipid metabolism; Atherosclerosis; HIF-1α; VEGF","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"1055-1060"},"PeriodicalIF":0.0,"publicationDate":"2019-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49340713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective To explore the glycemic control of newly-diagnosed type 2 diabetes with different levels of baseline body mass index (BMI) after 6 months treatment under the standardized metabolic disease management model. Methods (1) 163 patients of newly-diagnosed type 2 diabetes were divided into normal weight (BMI 18.5-23.9 kg/m2), overweight (BMI 24.0-27.9 kg/m2), and obese (BMI≥28 kg/m2) groups according to baseline BMI, the blood glucose and lipids levels were compared among 3 groups. (2) The blood glucose levels were compared among 3 groups after 6 months of standardized management. (3) The overweight and obese patients were divided into group weight loss≥5% and group weight loss<5% or weight gain in 6 months. The blood glucose levels were compared. Results (1) At baseline, overweight and obese groups had higher homeostasis model assessment for insulin resistance and lower high density lipoprotein-cholesterol compared with normal weight group. (2) After 6 months of treatment, HbA1C and HbA1C reduction showed no difference among 3 groups (normal, overweight and obese) after adjusted by baseline HbA1C. The rate of HbA1C 0.05). (3) After 6 months of treatment, 32.28% overweight and obese patients lost weight by ≥ 5%, while HbA1Cand HbA1Creduction showed no difference between 2 groups (weight loss≥5% and weight gain or weight loss 0.05). Group weight loss≥5% had better glucose control (92.68% vs 77.91%, P<0.05). Conclusions As BMI increased, insulin resistance and lipid disorders were more serious in newly-diagnosed type 2 diabetes. After 6 months of standardized metabolic management, newly-diagnosed type 2 diabetes with different baseline BMI and weight changes both achieved good glycemic control. In addition, patients losing weight equal to or more than 5% achieved higher attainment of HbA1C targets. Key words: Newly-diagnosed type 2 diabetes; Body mass index; HbA1C; Weight changes
{"title":"Glycemic control of newly-diagnosed type 2 diabetes with different baseline body mass index under the standardized metabolic disease management model","authors":"Jingjing Huang, Yuhang Ma, Mengyu Lai, Jiaying Yang, Xiaohui Wei, Aifang Zhang, Liping Gu, Yufan Wang","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.12.006","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.12.006","url":null,"abstract":"Objective \u0000To explore the glycemic control of newly-diagnosed type 2 diabetes with different levels of baseline body mass index (BMI) after 6 months treatment under the standardized metabolic disease management model. \u0000 \u0000 \u0000Methods \u0000(1) 163 patients of newly-diagnosed type 2 diabetes were divided into normal weight (BMI 18.5-23.9 kg/m2), overweight (BMI 24.0-27.9 kg/m2), and obese (BMI≥28 kg/m2) groups according to baseline BMI, the blood glucose and lipids levels were compared among 3 groups. (2) The blood glucose levels were compared among 3 groups after 6 months of standardized management. (3) The overweight and obese patients were divided into group weight loss≥5% and group weight loss<5% or weight gain in 6 months. The blood glucose levels were compared. \u0000 \u0000 \u0000Results \u0000(1) At baseline, overweight and obese groups had higher homeostasis model assessment for insulin resistance and lower high density lipoprotein-cholesterol compared with normal weight group. (2) After 6 months of treatment, HbA1C and HbA1C reduction showed no difference among 3 groups (normal, overweight and obese) after adjusted by baseline HbA1C. The rate of HbA1C 0.05). (3) After 6 months of treatment, 32.28% overweight and obese patients lost weight by ≥ 5%, while HbA1Cand HbA1Creduction showed no difference between 2 groups (weight loss≥5% and weight gain or weight loss 0.05). Group weight loss≥5% had better glucose control (92.68% vs 77.91%, P<0.05). \u0000 \u0000 \u0000Conclusions \u0000As BMI increased, insulin resistance and lipid disorders were more serious in newly-diagnosed type 2 diabetes. After 6 months of standardized metabolic management, newly-diagnosed type 2 diabetes with different baseline BMI and weight changes both achieved good glycemic control. In addition, patients losing weight equal to or more than 5% achieved higher attainment of HbA1C targets. \u0000 \u0000 \u0000Key words: \u0000Newly-diagnosed type 2 diabetes; Body mass index; HbA1C; Weight changes","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"1025-1030"},"PeriodicalIF":0.0,"publicationDate":"2019-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42833146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-12-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.12.012
Guangfei Li, Hui Zhang, Aifei Wang, Zihou Cao, G. Yan
The specimens of femur from wild-type mice(WT) of 6 months and Hepcidin-knockout(KO) mice of 6 months(iron accumulation model) were obtained for Micro-CT examination. Western blot and co-immunoprecipitation were used to detect the changes of related parameters in Wnt signaling pathway. Compared with wild-type mice, the bone mass in Hepcidin-KO mice was significantly decreased, the binding of β-catenin to FOXO3a increased, and binding of β-catenin to TCF4/TCF7L2 decreased in bone tissue, without significant changes in the expression of β-catenin, TCF4/TCF7L2, and FOXO3a. These results suggest that iron accumulation may affect bone formation through interfering with canonical Wnt/β-catenin signaling pathway, finally leading to osteoporosis. Key words: Iron accumulation; Osteoporosis; Wnt signaling pathway
{"title":"Iron accumulation induces osteoporosis by disrupting Wnt signaling pathway","authors":"Guangfei Li, Hui Zhang, Aifei Wang, Zihou Cao, G. Yan","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.12.012","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.12.012","url":null,"abstract":"The specimens of femur from wild-type mice(WT) of 6 months and Hepcidin-knockout(KO) mice of 6 months(iron accumulation model) were obtained for Micro-CT examination. Western blot and co-immunoprecipitation were used to detect the changes of related parameters in Wnt signaling pathway. Compared with wild-type mice, the bone mass in Hepcidin-KO mice was significantly decreased, the binding of β-catenin to FOXO3a increased, and binding of β-catenin to TCF4/TCF7L2 decreased in bone tissue, without significant changes in the expression of β-catenin, TCF4/TCF7L2, and FOXO3a. These results suggest that iron accumulation may affect bone formation through interfering with canonical Wnt/β-catenin signaling pathway, finally leading to osteoporosis. \u0000 \u0000 \u0000Key words: \u0000Iron accumulation; Osteoporosis; Wnt signaling pathway","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"1061-1064"},"PeriodicalIF":0.0,"publicationDate":"2019-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46088336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-12-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.12.010
Xiaoting Chen
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. Key words: Xanthine oxidase; Hyperuricemia; Obesity; Body mass index; Waist-to-hip ratio
目的评价和比较高尿酸血症患者和健康人黄嘌呤氧化酶（XO）活性的差异，并分析其影响因素。方法选择男性高尿酸血症患者129例，其中痛风患者112例，单纯高尿酸症患者17例。同时，随机抽取95名男性健康志愿者作为对照组。采用酶联免疫吸附法（ELISA）测定血清XO活性。采用独立t检验进行两两比较，采用多元线性回归分析分析独立影响因素。结果与正常对照组相比，高尿酸血症患者XO活性显著升高[（159.6±4.0 vs 138.7±7.5）U/L，P<0.05]。相关分析表明，XO活性与体重指数、腰臀比、舒张压、总胆固醇、血尿酸、肌酸酐、空腹血糖呈正相关，和尿酸清除率水平。在逐步多元回归分析中，XO活性被用作因变量。结果表明，腰臀比和尿酸清除率是影响XO活性的因素。结论高尿酸血症患者XO活性升高，肥胖尤其是腹部肥胖是XO活性的独立危险因素；提示控制腹部肥胖可能对高尿酸血症的治疗起到积极作用。关键词：黄原氧化酶；高尿酸血症；肥胖；体重指数；腰臀比
{"title":"Analysis of xanthine oxidase activity and influencing factors in patients with hyperuricemia","authors":"Xiaoting Chen","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.12.010","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.12.010","url":null,"abstract":"Objective \u0000To evaluate and compare the difference of xanthine oxidase (XO)activity between patients with hyperuricemia and healthy people, and to analyze the influencing factors. \u0000 \u0000 \u0000Methods \u0000A 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. \u0000 \u0000 \u0000Results \u0000Compared 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. \u0000 \u0000 \u0000Conclusion \u0000Hyperuricemia 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. \u0000 \u0000 \u0000Key words: \u0000Xanthine oxidase; Hyperuricemia; Obesity; Body mass index; Waist-to-hip ratio","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"1050-1054"},"PeriodicalIF":0.0,"publicationDate":"2019-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47868225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-12-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.12.003
Hanting Liang, H. Miao, H. Pan, Hongbo Yang, Shi Chen, F. Gong, Linjie Wang
Objective This article reported the clinical characteristics and gene mutations of two pseudoachondroplasia cases, and made a literature review in order to improve clinicians′ understanding of the disease. Methods Clinical features of two patients who were short stature accompanied with skeletal deformities were summarized, and they accepted whole exome sequencing. We also reviewed literature to summarize the clinical characteristics and known gene research progress of all reported Chinese pseudoachondroplasia cases. Results The two patients′ clinical characteristics were short limbdwarfism with skeletal deformity. Genetic results showed that there were two heterozygous mutations in the cartilage oligomeric matrix protein (COMP) gene of the two patients, c. 1417_1419delGAC and c. 1552G>A, respectively. Up to March 2019, a total of 58 cases of pseudoachondroplasia have been reported in China. The median height of these patients is -5.03 SDS. The clinical features include abnormal gait, short limbs, short fingers/toes, scoliosis, bracelet sign, ankle sign and other skeletal deformities. COMP is the pathogenic gene and mutations mainly located in calmodulin-like domains. The hotspot mutation is c. 1417_1419delGAC. Conclusions Pseudoachondroplasia is a kind of rare genetic disease characterized by short stature and skeletal deformities. The clinical and genetic characteristics of the disease were summarized, which may improve the early diagnosis rate. Key words: Pseudoachondroplasia; Cartilage oligomeric matrix protein; Gene mutation; Molecular mechanism
{"title":"Clinical characteristics of pseudoachondroplasia and analysis of COMP gene mutation","authors":"Hanting Liang, H. Miao, H. Pan, Hongbo Yang, Shi Chen, F. Gong, Linjie Wang","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.12.003","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.12.003","url":null,"abstract":"Objective \u0000This article reported the clinical characteristics and gene mutations of two pseudoachondroplasia cases, and made a literature review in order to improve clinicians′ understanding of the disease. \u0000 \u0000 \u0000Methods \u0000Clinical features of two patients who were short stature accompanied with skeletal deformities were summarized, and they accepted whole exome sequencing. We also reviewed literature to summarize the clinical characteristics and known gene research progress of all reported Chinese pseudoachondroplasia cases. \u0000 \u0000 \u0000Results \u0000The two patients′ clinical characteristics were short limbdwarfism with skeletal deformity. Genetic results showed that there were two heterozygous mutations in the cartilage oligomeric matrix protein (COMP) gene of the two patients, c. 1417_1419delGAC and c. 1552G>A, respectively. Up to March 2019, a total of 58 cases of pseudoachondroplasia have been reported in China. The median height of these patients is -5.03 SDS. The clinical features include abnormal gait, short limbs, short fingers/toes, scoliosis, bracelet sign, ankle sign and other skeletal deformities. COMP is the pathogenic gene and mutations mainly located in calmodulin-like domains. The hotspot mutation is c. 1417_1419delGAC. \u0000 \u0000 \u0000Conclusions \u0000Pseudoachondroplasia is a kind of rare genetic disease characterized by short stature and skeletal deformities. The clinical and genetic characteristics of the disease were summarized, which may improve the early diagnosis rate. \u0000 \u0000 \u0000Key words: \u0000Pseudoachondroplasia; Cartilage oligomeric matrix protein; Gene mutation; Molecular mechanism","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"1006-1013"},"PeriodicalIF":0.0,"publicationDate":"2019-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43006369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-12-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.12.014
P. Zhou, Yueting Zhao, Guofang Chen
Graves′ disease, also known as diffuse toxic goiter, is an autoimmune disease with increased secretion of thyroid hormone. There are three effective treatments for Graves′ disease, which including anti-thyroid drugs (ATD), radioactive iodine and thyroidectomy. In general, ATD is the first choice of Graves′ disease treatment for domestic physicians, but the high recurrence rate has always been the deficiency of ATD treatment. Recurrence is mainly related to gender, age, smoking, course of disease, goiter and other factors. Among them, the reliability and applicability of single risk factor in evaluating the recurrence rate of Graves′ disease after ATD treatment are poor. The prediction model of multi-factor comprehensive score is helpful for the naive patients to choose the best treatment plan, to achieve the goal of precise treatment and to improve the remission rate of Graves′ disease drug treatment. In this paper, the reliability of risk factors for Graves′ disease recurrence after ATD treatment is evaluated, and the development and application of prediction models such as Graves′ recurrent events after therapy (GREAT) score, GREAT + score, and clinical severity score (CSS) are reviewed. Key words: Anti-thyroid drugs; Recurrence of Graves′ disease; Risk factor; Predictive model
{"title":"Advances in research on anti-thyroid drugs for recurrence risk factors and predictive models of Graves′ disease","authors":"P. Zhou, Yueting Zhao, Guofang Chen","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.12.014","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.12.014","url":null,"abstract":"Graves′ disease, also known as diffuse toxic goiter, is an autoimmune disease with increased secretion of thyroid hormone. There are three effective treatments for Graves′ disease, which including anti-thyroid drugs (ATD), radioactive iodine and thyroidectomy. In general, ATD is the first choice of Graves′ disease treatment for domestic physicians, but the high recurrence rate has always been the deficiency of ATD treatment. Recurrence is mainly related to gender, age, smoking, course of disease, goiter and other factors. Among them, the reliability and applicability of single risk factor in evaluating the recurrence rate of Graves′ disease after ATD treatment are poor. The prediction model of multi-factor comprehensive score is helpful for the naive patients to choose the best treatment plan, to achieve the goal of precise treatment and to improve the remission rate of Graves′ disease drug treatment. In this paper, the reliability of risk factors for Graves′ disease recurrence after ATD treatment is evaluated, and the development and application of prediction models such as Graves′ recurrent events after therapy (GREAT) score, GREAT + score, and clinical severity score (CSS) are reviewed. \u0000 \u0000 \u0000Key words: \u0000Anti-thyroid drugs; Recurrence of Graves′ disease; Risk factor; Predictive model","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"1068-1072"},"PeriodicalIF":0.0,"publicationDate":"2019-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45981984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-12-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.12.004
Geng Lili, Chen Zhongfen, L. Lei, Zheng Xuan, Kong Jinghui, Song Yinsen
Objective To explore the clinical and genetic characteristics of primary coenzyme Q10 deficiency caused by coenzyme Q4 (COQ4) variants. Methods Clinical data were collected, while COQ4 gene was sequenced. Results Here were reported a boy of 3 months old who came to our hospital presented with feeding difficulties, repeated respiratory infections, convulsions for 3 months. He was subsequently diagnosed as cerebral atrophy, and growth retardation. All exons were sequenced.c.211G>A(p.A71T, maternal), c. 436T>A(p.F146I, paternal) were detected. After treatment with coenzyme Q10, the convulsive symptoms improved significantly. Literature review revealed that totally 14 cases with primary coenzyme Q10 deficiency caused by COQ4 gene mutation were reported. The onset age varies from neonatal to 18 years old, and the clinical manifestations are heterogeneous, including cardiomyopathy, epilepsy, ataxia, cerebellar atrophy, respiratory insufficiency, and growth retardation. Conclusion For cases with atypical clinical manifestations of primary coenzyme Q10 deficiency, gene detection is helpful for an early diagnosis and treatment. Key words: Primary coenzyme Q10 deficiency; COQ4 gene; Gene mutation
{"title":"Clinical characteristics and genetic analysis of primary coenzyme Q10 deficiency caused by COQ4 gene mutation","authors":"Geng Lili, Chen Zhongfen, L. Lei, Zheng Xuan, Kong Jinghui, Song Yinsen","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.12.004","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.12.004","url":null,"abstract":"Objective \u0000To explore the clinical and genetic characteristics of primary coenzyme Q10 deficiency caused by coenzyme Q4 (COQ4) variants. \u0000 \u0000 \u0000Methods \u0000Clinical data were collected, while COQ4 gene was sequenced. \u0000 \u0000 \u0000Results \u0000Here were reported a boy of 3 months old who came to our hospital presented with feeding difficulties, repeated respiratory infections, convulsions for 3 months. He was subsequently diagnosed as cerebral atrophy, and growth retardation. All exons were sequenced.c.211G>A(p.A71T, maternal), c. 436T>A(p.F146I, paternal) were detected. After treatment with coenzyme Q10, the convulsive symptoms improved significantly. Literature review revealed that totally 14 cases with primary coenzyme Q10 deficiency caused by COQ4 gene mutation were reported. The onset age varies from neonatal to 18 years old, and the clinical manifestations are heterogeneous, including cardiomyopathy, epilepsy, ataxia, cerebellar atrophy, respiratory insufficiency, and growth retardation. \u0000 \u0000 \u0000Conclusion \u0000For cases with atypical clinical manifestations of primary coenzyme Q10 deficiency, gene detection is helpful for an early diagnosis and treatment. \u0000 \u0000 \u0000Key words: \u0000Primary coenzyme Q10 deficiency; COQ4 gene; Gene mutation","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"1014-1018"},"PeriodicalIF":0.0,"publicationDate":"2019-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48166734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-12-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.12.001
Zhenlin Zhang
How to inherit and develop the Society of Osteoporosis and Bone Mineral Disease Research, Chinese Medical Association is not only a challenge for the committee, but also an opportunity for development. We must seize the opportunity and strive to do well the clinical research of bone mineral diseases. Key words: Bone mineral diseases; Clinical research
{"title":"Seize the opportunity and strive to do well in clinical research of bone mineral diseases","authors":"Zhenlin Zhang","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.12.001","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.12.001","url":null,"abstract":"How to inherit and develop the Society of Osteoporosis and Bone Mineral Disease Research, Chinese Medical Association is not only a challenge for the committee, but also an opportunity for development. We must seize the opportunity and strive to do well the clinical research of bone mineral diseases. Key words: Bone mineral diseases; Clinical research","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"999-1000"},"PeriodicalIF":0.0,"publicationDate":"2019-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43781774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-12-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2019.12.008
Shuxia Guo, Wenwen Yang, R. Ma, Xiang-hui Zhang, Heng Guo, Jia He, Lei Mao, La-ti Mu, Kui Wang, Yunhua Hu, Yizhong Yan, Jingyu Zhang, Jiao-long Ma, Jia-ming Liu, Xin-ping Wang
Objective To compare metabolic syndrome(MS)with Framingham risk score as predictors of cardiovascular disease(CVD)among Kazakhs population. Methods The participants were the residents who had been followed up for more than 5 years in representative areas of Kazakhs in Xinjiang. We assigned MS a continuous risk score for predicting the development of CVD based on the weights of MS components. MS and Framingham risk score were compared in terms of their ability in predicting years in representative areas of Kazakhs in Xinjiang. We assigned MS a continuous risk score for predicting the development of CVD based on the weights of MS components. MS and Framingham risk score were compared in terms of their ability in predicting development of CVD using Cox regression and receiver operating characteristic curve. Results The incidence of CVD was 13.87%. The incidence of CVD was higher in the MS group than it in the non-MS group(21.59% vs 11.10%, P<0.001). The area under the receiver operating characteristic(ROC)curve of MS risk score was significantly larger than that of MS classification(0.727 vs 0.585, P<0.001); the area under the curve of MS risk score was close to that of Framingham risk score(0.732 vs 0.727, P=0.673). The association between CVD and each quintile of MS risk score was more significant than that between Framingham risk score and CVD under the same exposed condition(4.61, 9.33, 14.15, 22.29 vs 3.69, 6.36, 8.47, 16.99). Conclusion MS risk score that included age may be a better predictor of CVD among Kazakhs population. Key words: Metabolic syndrome; Framingham risk score; Kazakhs; Cardiovascular disease
{"title":"Comparison between metabolic syndrome and framingham risk score as predictor of cardiovascular disease among Kazakhs population","authors":"Shuxia Guo, Wenwen Yang, R. Ma, Xiang-hui Zhang, Heng Guo, Jia He, Lei Mao, La-ti Mu, Kui Wang, Yunhua Hu, Yizhong Yan, Jingyu Zhang, Jiao-long Ma, Jia-ming Liu, Xin-ping Wang","doi":"10.3760/CMA.J.ISSN.1000-6699.2019.12.008","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2019.12.008","url":null,"abstract":"Objective \u0000To compare metabolic syndrome(MS)with Framingham risk score as predictors of cardiovascular disease(CVD)among Kazakhs population. \u0000 \u0000 \u0000Methods \u0000The participants were the residents who had been followed up for more than 5 years in representative areas of Kazakhs in Xinjiang. We assigned MS a continuous risk score for predicting the development of CVD based on the weights of MS components. MS and Framingham risk score were compared in terms of their ability in predicting years in representative areas of Kazakhs in Xinjiang. We assigned MS a continuous risk score for predicting the development of CVD based on the weights of MS components. MS and Framingham risk score were compared in terms of their ability in predicting development of CVD using Cox regression and receiver operating characteristic curve. \u0000 \u0000 \u0000Results \u0000The incidence of CVD was 13.87%. The incidence of CVD was higher in the MS group than it in the non-MS group(21.59% vs 11.10%, P<0.001). The area under the receiver operating characteristic(ROC)curve of MS risk score was significantly larger than that of MS classification(0.727 vs 0.585, P<0.001); the area under the curve of MS risk score was close to that of Framingham risk score(0.732 vs 0.727, P=0.673). The association between CVD and each quintile of MS risk score was more significant than that between Framingham risk score and CVD under the same exposed condition(4.61, 9.33, 14.15, 22.29 vs 3.69, 6.36, 8.47, 16.99). \u0000 \u0000 \u0000Conclusion \u0000MS risk score that included age may be a better predictor of CVD among Kazakhs population. \u0000 \u0000 \u0000Key words: \u0000Metabolic syndrome; Framingham risk score; Kazakhs; Cardiovascular disease","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"35 1","pages":"1037-1042"},"PeriodicalIF":0.0,"publicationDate":"2019-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43115399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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