BACKGROUND Glycogen storage disease type Ia(GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase(G6Pase),leading to disturbed glycog...BACKGROUND Glycogen storage disease type Ia(GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase(G6Pase),leading to disturbed glycogenolysis and gluconeogenesis.Patients with GSDIa show severe fasting hypoglycemia,hyperlipidemia,hyperlactacidemia,and hyperuricemia,which are associated with fatal outcomes in pregnant women and fetuses.CASE SUMMARY Herein,we report the case of a 24-year-old female who on her first visit to the hospital,presented with pregnancy combined with extremely high hyperlipidemia and hyperlactic acidosis with anemia,and frequent hypoglycemia occurred during the treatment.Genetic tests revealed a mutation in the G6Pase gene(G6PC) at 17q21,the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment.She has been treated with a continuous double filtration plasmapheresis(DFPP) strategy to remove blood lipids,and a cornstarch diet therapy.The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered.CONCLUSION Patients with GSDIa may be misdiagnosed as epilepsy.DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.展开更多
To study the effect of Green plum citron double strain fermentation filtrate(DSF)on the proliferation rate of HaCaT keratinocytes by CCK8 assay.The effect of DSF on the mRNA transcription levels of filagolin(FLG),lori...To study the effect of Green plum citron double strain fermentation filtrate(DSF)on the proliferation rate of HaCaT keratinocytes by CCK8 assay.The effect of DSF on the mRNA transcription levels of filagolin(FLG),loricrin(LOR),and occludin 1(CLD1)in HaCaT cells in sodium dodecyl sulfate(SLS)model was investigated by qPCR.The effect of DSF on the content of TNF-αin the supernatant of HaCaT cells in the model was investigated by Elisa.The results showed that DSF had no toxicity to HaCaT cells,but it could increase the mRNA transcription levels of FLG,LOR and CLD1 in HaCaT cells in the model,and reduce the content of TNF-αin the supernatant of HaCaT cells in the model.DSF had a certain effect on skin care of strengthening skin barrier.展开更多
文摘BACKGROUND Glycogen storage disease type Ia(GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase(G6Pase),leading to disturbed glycogenolysis and gluconeogenesis.Patients with GSDIa show severe fasting hypoglycemia,hyperlipidemia,hyperlactacidemia,and hyperuricemia,which are associated with fatal outcomes in pregnant women and fetuses.CASE SUMMARY Herein,we report the case of a 24-year-old female who on her first visit to the hospital,presented with pregnancy combined with extremely high hyperlipidemia and hyperlactic acidosis with anemia,and frequent hypoglycemia occurred during the treatment.Genetic tests revealed a mutation in the G6Pase gene(G6PC) at 17q21,the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment.She has been treated with a continuous double filtration plasmapheresis(DFPP) strategy to remove blood lipids,and a cornstarch diet therapy.The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered.CONCLUSION Patients with GSDIa may be misdiagnosed as epilepsy.DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.
文摘To study the effect of Green plum citron double strain fermentation filtrate(DSF)on the proliferation rate of HaCaT keratinocytes by CCK8 assay.The effect of DSF on the mRNA transcription levels of filagolin(FLG),loricrin(LOR),and occludin 1(CLD1)in HaCaT cells in sodium dodecyl sulfate(SLS)model was investigated by qPCR.The effect of DSF on the content of TNF-αin the supernatant of HaCaT cells in the model was investigated by Elisa.The results showed that DSF had no toxicity to HaCaT cells,but it could increase the mRNA transcription levels of FLG,LOR and CLD1 in HaCaT cells in the model,and reduce the content of TNF-αin the supernatant of HaCaT cells in the model.DSF had a certain effect on skin care of strengthening skin barrier.
