Glutaric acidemia type Ⅱ(GAⅡ), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAⅡ with novel electron t...Glutaric acidemia type Ⅱ(GAⅡ), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAⅡ with novel electron transfer flavoprotein(ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicityon the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type Ⅱ in newborn screening analysis. Urinary organic acids were evaluated for the confirmation and revealed a high glutaric acid excretion.Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be compound heterozygote. At the 8 mo of life ketone therapy was added, which significantly increased the neuromotor development. The patient had been closely followed for two years with carnitine, riboflavin, coenzyme Q10,and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor development was normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.展开更多
目的探讨血管紧张素Ⅱ1型受体(AT1R)基因多态性与代谢综合征(MS)的关系。方法用聚合酶链反应(PCR)方法检测汉族MS患者109例,汉族对照组118例,东乡族MS患者104例,东乡族对照113例AT1R基因多态性,测量血压,检测血脂、血糖,分析其关系。结...目的探讨血管紧张素Ⅱ1型受体(AT1R)基因多态性与代谢综合征(MS)的关系。方法用聚合酶链反应(PCR)方法检测汉族MS患者109例,汉族对照组118例,东乡族MS患者104例,东乡族对照113例AT1R基因多态性,测量血压,检测血脂、血糖,分析其关系。结果 4组AC基因型频率汉族MS组(10.1%)、汉族对照组(11.1%)、东乡族MS组(13.4%)、东乡族对照组(19.5%)(P>0.05);汉族对照组舒张压(DBP)AC基因型(89.0±5.7)mmHg(1 mmHg=0.133 kPa)vs AA基因型(84.0±6.0)mmHg(P<0.05);东乡族代谢综合征组收缩压(SBP)AC基因型(180.0±13.6)mmHg vs AA基因型(150.7±11.6)mmHg(P<0.05);东乡族对照组SBP AC基因型(131.7±11.9)mmHg vs AA基因型(120.4±23.1)mmHg(P<0.01)。结论汉族与东乡族AT1R基因A1166/C多态性与代谢综合征无关;进一步提示AT1R基因A1166/C多态性是原发性高血压的遗传因素。展开更多
AIM To evaluate the bidirectional association between metabolic syndrome(MS) components and antiviral treatment response for chronic hepatitis C virus(HCV) infection. METHODS This retrospective cohort study included 1...AIM To evaluate the bidirectional association between metabolic syndrome(MS) components and antiviral treatment response for chronic hepatitis C virus(HCV) infection. METHODS This retrospective cohort study included 119 HCV + patients treated with pegylated-interferon-α and ribavirin. Metabolic characteristics and laboratory data were collected from medical records. Differences in baseline clinical and demographic risk factors between responders and non-responders were assessed using independent samples t-tests or χ~2 tests. The effects of sustained viral response(SVR) to antiviral treatment on de novo impairments in MS components, including impaired fasting glucose(IFG) and type 2 diabetes mellitus(T2DM), were assessed using univariable and multivariable logistic regression analysis, while the effect of MS components on SVR was assessed using univariable logistic regression analysis. RESULTS Of the 119 patients, 80(67%) developed SVR over the average 54 ± 13 mo follow-up. The cumulative risks for de novo T2DM and IFG were 5.07-(95%CI: 1.261-20.4, P = 0.022) and 3.87-fold higher(95%CI: 1.484-10.15, P = 0.006), respectively for non-responders than responders, when adjusted for the baseline risk factors age, sex, HCV genotype, high viral load, and steatosis. Post-treatment triglyceride levels were significantly lower in non-responders than in responders(OR = 0.27; 95%CI: 0.069-0.962, P = 0.044). Age and HCV genotype 3 were significantly different between responders and non-responders, and MS components were not significantly associated with SVR. Steatosis tended to attenuate SVR(OR = 0.596; 95%CI: 0.331-1.073, P = 0.08).CONCLUSION SVR was associated with lower de novo T2DM and IFG incidence and higher triglyceride levels. Patients infected with HCV should undergo T2DM screening and antidiabetic treatment.展开更多
BACKGROUND： The supernatant of interferon-gamma （IFNγ） co-cultured with neonatal rat cortical glia can promote the cells in embryonic basal forebrain/septal nuclei to differentiate into cholinergic neurons, but th...BACKGROUND： The supernatant of interferon-gamma （IFNγ） co-cultured with neonatal rat cortical glia can promote the cells in embryonic basal forebrain/septal nuclei to differentiate into cholinergic neurons, but the mechanism is still unclear. OBJECTIVE： To analyze the pathways for IFNγ to promote the differentiation of primarily cultured cholinergic neurons in rat embryonic basal forebrain/septal nuclei through culture in different conditioned medium. DESIGN： A controlled experiment taking cells as the observational target. SETTINGS： Department of Biochemistry and Molecular Biology, Youjiang Medical College for Nationalities; Department of Cell Biology, Beijing University Health Science Center. MATERIALS： Sixty-four pregnant Wistar rats for 16 days （250-350 g） and 84 Wistar rats （either male or female, 5-7 g） of 0-1 day after birth were provided by the experimental animal department of Beijing University Health Science Center. Rat IFNγ were provided by Gibco Company; Glial fibrillary acidic protein by Huamei Company. METHODS： The experiments were carried out in the Department of Cell Biology, Beijing University Health Science Center and Daheng Image Company of Chinese Academy of Science from July 1995 to December 2002. ① Interventions： The nerve cells in the basal forebrain/septal nuclei of the pregnant Wistar rats for 16 days were primarily cultured, and then divided into four groups： Blank control group （not any supernatant and medium was added）; Control group （added by mixed glial cell or astrocyte conditioned medium）; IFNγ group （added by mixed glial cell or astrocyte conditioned medium＋IFNγ）. Antibody group （added by mixed glial cell or astrocyte conditioned medium＋IFNγ＋Ab-IFNγ）. Mixed glial cell or astrocyte conditioned medium was prepared using cerebral cortex of Wistar rats of 0-1 day after birth. ② Evaluation： The immunohistochemical method was used to perform the choline acetyltransferase （ChAT） staining of cholinergic neurons. The ChAT positive cells were counted. MAIN OUTCOME MEASURES： Comparison of ChAT positive cells in rat basal forebrain and septal nuclei in different conditioned medium. RESULTS： ① ChAT positive cells in mixed glial cell conditioned medium： The ChAT positive cells in the IFNγ group and antibody group were significantly more than those in the control group （P 〈 0.01）. ② ChAT positive cells in astrocyte conditioned medium： The ChAT positive cells in the IFNγ group were significantly more than those in the control group, but there was no significant difference between the antibody group and control group （P 〉 0.05）. CONCLUSION： IFNγ cannot directly promote the differentiation of cholinergic neurons, but plays a role through activating glial cells （except astrocytes） to produce IFNγ like molecules.展开更多
文摘Glutaric acidemia type Ⅱ(GAⅡ), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAⅡ with novel electron transfer flavoprotein(ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicityon the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type Ⅱ in newborn screening analysis. Urinary organic acids were evaluated for the confirmation and revealed a high glutaric acid excretion.Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be compound heterozygote. At the 8 mo of life ketone therapy was added, which significantly increased the neuromotor development. The patient had been closely followed for two years with carnitine, riboflavin, coenzyme Q10,and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor development was normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.
文摘目的探讨血管紧张素Ⅱ1型受体(AT1R)基因多态性与代谢综合征(MS)的关系。方法用聚合酶链反应(PCR)方法检测汉族MS患者109例,汉族对照组118例,东乡族MS患者104例,东乡族对照113例AT1R基因多态性,测量血压,检测血脂、血糖,分析其关系。结果 4组AC基因型频率汉族MS组(10.1%)、汉族对照组(11.1%)、东乡族MS组(13.4%)、东乡族对照组(19.5%)(P>0.05);汉族对照组舒张压(DBP)AC基因型(89.0±5.7)mmHg(1 mmHg=0.133 kPa)vs AA基因型(84.0±6.0)mmHg(P<0.05);东乡族代谢综合征组收缩压(SBP)AC基因型(180.0±13.6)mmHg vs AA基因型(150.7±11.6)mmHg(P<0.05);东乡族对照组SBP AC基因型(131.7±11.9)mmHg vs AA基因型(120.4±23.1)mmHg(P<0.01)。结论汉族与东乡族AT1R基因A1166/C多态性与代谢综合征无关;进一步提示AT1R基因A1166/C多态性是原发性高血压的遗传因素。
文摘AIM To evaluate the bidirectional association between metabolic syndrome(MS) components and antiviral treatment response for chronic hepatitis C virus(HCV) infection. METHODS This retrospective cohort study included 119 HCV + patients treated with pegylated-interferon-α and ribavirin. Metabolic characteristics and laboratory data were collected from medical records. Differences in baseline clinical and demographic risk factors between responders and non-responders were assessed using independent samples t-tests or χ~2 tests. The effects of sustained viral response(SVR) to antiviral treatment on de novo impairments in MS components, including impaired fasting glucose(IFG) and type 2 diabetes mellitus(T2DM), were assessed using univariable and multivariable logistic regression analysis, while the effect of MS components on SVR was assessed using univariable logistic regression analysis. RESULTS Of the 119 patients, 80(67%) developed SVR over the average 54 ± 13 mo follow-up. The cumulative risks for de novo T2DM and IFG were 5.07-(95%CI: 1.261-20.4, P = 0.022) and 3.87-fold higher(95%CI: 1.484-10.15, P = 0.006), respectively for non-responders than responders, when adjusted for the baseline risk factors age, sex, HCV genotype, high viral load, and steatosis. Post-treatment triglyceride levels were significantly lower in non-responders than in responders(OR = 0.27; 95%CI: 0.069-0.962, P = 0.044). Age and HCV genotype 3 were significantly different between responders and non-responders, and MS components were not significantly associated with SVR. Steatosis tended to attenuate SVR(OR = 0.596; 95%CI: 0.331-1.073, P = 0.08).CONCLUSION SVR was associated with lower de novo T2DM and IFG incidence and higher triglyceride levels. Patients infected with HCV should undergo T2DM screening and antidiabetic treatment.
基金the National Natural Science Foundation of China, No. 39570249
文摘BACKGROUND： The supernatant of interferon-gamma （IFNγ） co-cultured with neonatal rat cortical glia can promote the cells in embryonic basal forebrain/septal nuclei to differentiate into cholinergic neurons, but the mechanism is still unclear. OBJECTIVE： To analyze the pathways for IFNγ to promote the differentiation of primarily cultured cholinergic neurons in rat embryonic basal forebrain/septal nuclei through culture in different conditioned medium. DESIGN： A controlled experiment taking cells as the observational target. SETTINGS： Department of Biochemistry and Molecular Biology, Youjiang Medical College for Nationalities; Department of Cell Biology, Beijing University Health Science Center. MATERIALS： Sixty-four pregnant Wistar rats for 16 days （250-350 g） and 84 Wistar rats （either male or female, 5-7 g） of 0-1 day after birth were provided by the experimental animal department of Beijing University Health Science Center. Rat IFNγ were provided by Gibco Company; Glial fibrillary acidic protein by Huamei Company. METHODS： The experiments were carried out in the Department of Cell Biology, Beijing University Health Science Center and Daheng Image Company of Chinese Academy of Science from July 1995 to December 2002. ① Interventions： The nerve cells in the basal forebrain/septal nuclei of the pregnant Wistar rats for 16 days were primarily cultured, and then divided into four groups： Blank control group （not any supernatant and medium was added）; Control group （added by mixed glial cell or astrocyte conditioned medium）; IFNγ group （added by mixed glial cell or astrocyte conditioned medium＋IFNγ）. Antibody group （added by mixed glial cell or astrocyte conditioned medium＋IFNγ＋Ab-IFNγ）. Mixed glial cell or astrocyte conditioned medium was prepared using cerebral cortex of Wistar rats of 0-1 day after birth. ② Evaluation： The immunohistochemical method was used to perform the choline acetyltransferase （ChAT） staining of cholinergic neurons. The ChAT positive cells were counted. MAIN OUTCOME MEASURES： Comparison of ChAT positive cells in rat basal forebrain and septal nuclei in different conditioned medium. RESULTS： ① ChAT positive cells in mixed glial cell conditioned medium： The ChAT positive cells in the IFNγ group and antibody group were significantly more than those in the control group （P 〈 0.01）. ② ChAT positive cells in astrocyte conditioned medium： The ChAT positive cells in the IFNγ group were significantly more than those in the control group, but there was no significant difference between the antibody group and control group （P 〉 0.05）. CONCLUSION： IFNγ cannot directly promote the differentiation of cholinergic neurons, but plays a role through activating glial cells （except astrocytes） to produce IFNγ like molecules.
