Gaucher disease (GD) is an autosomal recessive disease which if undiagnosed or diagnosed late results in devastating complications. Because of the heterozygous nature of GD, there is a wide spectrum of clinical presen...Gaucher disease (GD) is an autosomal recessive disease which if undiagnosed or diagnosed late results in devastating complications. Because of the heterozygous nature of GD, there is a wide spectrum of clinical presentation. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly, anemia, massive splenomegaly, ascites and even cirrhosis of unknown origin. The treatment options for adult type GD include enzyme replacement treatment (ERT) and substrate reduction treatment (SRT) depending on the status of the patient. Future treatment options are gene therapy and "smart molecules" which provide specifi c cure and additional treatment options. In this review, we present the key issues about GD and new developments that gastroenterologists should be aware of.展开更多
The issues of reducing CO_2 emissions, sustainably utilizing natural mineral resources, and dealing with industrial waste offer challenges for sustainable development in energy and the environment. We propose an effic...The issues of reducing CO_2 emissions, sustainably utilizing natural mineral resources, and dealing with industrial waste offer challenges for sustainable development in energy and the environment. We propose an efficient methodology via the co-reaction of K-feldspar and phosphogypsum for the extraction of soluble potassium salts and recovery of SO_2 with reduced CO_2 emission and energy consumption. The results of characterization and reactivity evaluation indicated that the partial melting of K-feldspar and phosphogypsum in the hightemperature co-reaction significantly facilitated the reduction of phosphogypsum to SO_2 and the exchange of K^+(K-feldspar) with Ca^(2+)(CaSO_4 in phosphogypsum). The reaction parameters were systematically investigated with the highest sulfur recovery ratio of ~ 60% and K extraction ratio of ~ 87.7%. This novel methodology possesses an energy consumption reduction of ~ 28% and CO_2 emission reduction of ~ 55% comparing with the present typical commercial technologies for utilization of K-feldspar and the treatment of phosphogypsum.展开更多
Herein, we attempted to engineer oxygen vacancies on the surface of LaCoO_(3) perovskite through simple post-treatments(acid or reductive thermal treatments). Acid treatment induces oxygen vacancies through the select...Herein, we attempted to engineer oxygen vacancies on the surface of LaCoO_(3) perovskite through simple post-treatments(acid or reductive thermal treatments). Acid treatment induces oxygen vacancies through the selective etching of the La cations, whereas thermal treatment in a reducing atmosphere generates oxygen vacancies by directly removing lattice oxygen. The characterization results confirm that the number of surface oxygen vacancies, which are crucial in various catalytic oxidation reactions,considerably increases in the LaCoO_(3) catalysts treated with acid or reducing gas. Acid treatment enriches the oxygen vacancies while maintaining the structure of the LaCoO_(3) catalysts, which can not be achieved through reductive thermal treatment. Therefore, the acid treatment is considered a promising technique for oxygen vacancy engineering of perovskite catalysts for tuning their catalytic activities. Furthermore,the catalytic activities of the posttreated LaCoO_(3) catalysts for CO oxidation were evaluated and are noted to be considerably better than those of the pristine LaCoO_(3) catalyst due to their abundant oxygen vacancies. Consequently, we conclude that the oxygen vacancies of perovskite catalysts can be effectively engineered via two simple methods and play a significant role in CO oxidation.展开更多
Inborn errors of metabolism（IEMs） are a large group of inherited disorders characterized by disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters. The rapid advances in the understand...Inborn errors of metabolism（IEMs） are a large group of inherited disorders characterized by disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters. The rapid advances in the understanding of the molecular pathophysiology of many IEMs, have led to significant progress in the development of many new treatments. The institution and continued expansion of newborn screening provide the opportunity for early treatment, leading to reduced morbidity and mortality. This review provides an overview of the diverse therapeutic approaches and recent advances in the treatment of IEMs that focus on the basic principles of reducing substrate accumulation, replacing or enhancing absent or reduced enzyme or cofactor, and supplementing product deficiency. In addition, the challenges and obstacles of current treatment modalities and future treatment perspectives are reviewed and discussed.展开更多
文摘Gaucher disease (GD) is an autosomal recessive disease which if undiagnosed or diagnosed late results in devastating complications. Because of the heterozygous nature of GD, there is a wide spectrum of clinical presentation. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly, anemia, massive splenomegaly, ascites and even cirrhosis of unknown origin. The treatment options for adult type GD include enzyme replacement treatment (ERT) and substrate reduction treatment (SRT) depending on the status of the patient. Future treatment options are gene therapy and "smart molecules" which provide specifi c cure and additional treatment options. In this review, we present the key issues about GD and new developments that gastroenterologists should be aware of.
基金Supported by the National Natural Science Foundation of China(21336004)the State Key Research Plan of the Ministry of Science and Technology(2013BAC12B03)
文摘The issues of reducing CO_2 emissions, sustainably utilizing natural mineral resources, and dealing with industrial waste offer challenges for sustainable development in energy and the environment. We propose an efficient methodology via the co-reaction of K-feldspar and phosphogypsum for the extraction of soluble potassium salts and recovery of SO_2 with reduced CO_2 emission and energy consumption. The results of characterization and reactivity evaluation indicated that the partial melting of K-feldspar and phosphogypsum in the hightemperature co-reaction significantly facilitated the reduction of phosphogypsum to SO_2 and the exchange of K^+(K-feldspar) with Ca^(2+)(CaSO_4 in phosphogypsum). The reaction parameters were systematically investigated with the highest sulfur recovery ratio of ~ 60% and K extraction ratio of ~ 87.7%. This novel methodology possesses an energy consumption reduction of ~ 28% and CO_2 emission reduction of ~ 55% comparing with the present typical commercial technologies for utilization of K-feldspar and the treatment of phosphogypsum.
基金Project supported by the Korea Institute of Energy Technology Evaluation and Planning(KETEP)the Ministry of Trade,Industry&Energy(MOTIE),Republic of Korea(No.20214810100010)。
文摘Herein, we attempted to engineer oxygen vacancies on the surface of LaCoO_(3) perovskite through simple post-treatments(acid or reductive thermal treatments). Acid treatment induces oxygen vacancies through the selective etching of the La cations, whereas thermal treatment in a reducing atmosphere generates oxygen vacancies by directly removing lattice oxygen. The characterization results confirm that the number of surface oxygen vacancies, which are crucial in various catalytic oxidation reactions,considerably increases in the LaCoO_(3) catalysts treated with acid or reducing gas. Acid treatment enriches the oxygen vacancies while maintaining the structure of the LaCoO_(3) catalysts, which can not be achieved through reductive thermal treatment. Therefore, the acid treatment is considered a promising technique for oxygen vacancy engineering of perovskite catalysts for tuning their catalytic activities. Furthermore,the catalytic activities of the posttreated LaCoO_(3) catalysts for CO oxidation were evaluated and are noted to be considerably better than those of the pristine LaCoO_(3) catalyst due to their abundant oxygen vacancies. Consequently, we conclude that the oxygen vacancies of perovskite catalysts can be effectively engineered via two simple methods and play a significant role in CO oxidation.
文摘Inborn errors of metabolism（IEMs） are a large group of inherited disorders characterized by disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters. The rapid advances in the understanding of the molecular pathophysiology of many IEMs, have led to significant progress in the development of many new treatments. The institution and continued expansion of newborn screening provide the opportunity for early treatment, leading to reduced morbidity and mortality. This review provides an overview of the diverse therapeutic approaches and recent advances in the treatment of IEMs that focus on the basic principles of reducing substrate accumulation, replacing or enhancing absent or reduced enzyme or cofactor, and supplementing product deficiency. In addition, the challenges and obstacles of current treatment modalities and future treatment perspectives are reviewed and discussed.
