The chemical activation of various precursors is effective for creating additional closed pores in hard carbons for sodium storage.However,the formation mechanism of closed pores under the influence of pore-forming ag...The chemical activation of various precursors is effective for creating additional closed pores in hard carbons for sodium storage.However,the formation mechanism of closed pores under the influence of pore-forming agents is not well understood.Herein,an effective chemical activation followed by a high-temperature self-healing strategy is employed to generate interconnected closed pores in lignin-derived hard carbon(HCs).By systematic experimental design combined with electron paramagnetic res-onance spectroscopy,it can be found that the content of free radicals in the carbon matrix influences the closure of open pores at high temperatures.Excessively high activation temperature(>700 C)leads to a low free radical concentration,making it difficult to achieve self-healing of open pores at high tempera-tures.By activation at 700°C,a balance between pore making and self-healing is achieved in the final hard carbon.A large number of free radicals triggers rapid growth and aggregation of carbon microcrys-tals,blocking pre-formed open micropores and creating additional interconnected closed pores in as-obtained hard carbons.As a result,the optimized carbon anode(LK-700-1300)delivers a high reversible capacity of 330.8 mA h g^(-1) at 0.03 A g^(-1),which is an increase of 86 mA h g^(-1) compared to the pristine lignin-derived carbon anode(L-700-1300),and exhibits a good rate performance(202.1 mA h g^(-1) at 1 A g^(-1)).This work provides a universal and effective guidance for tuning closed pores of hard carbons from otherprecursors.展开更多
Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese ca...Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese cases with CblC disease.Methods We carried out a national,retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G>A variant either in a homozygous or compound heterozygous state.The control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G>A mutation.Clinical features,including disease onset,symptoms,biochemical metabolites,gene mutation,and follow-up outcomes were reviewed and analyzed in detail.The median follow-up period spanned 3 years and 8 months,with a range of 1 year and 2 months to 12 years and 10 months.Results Among 195 patients carrying the c.482G>A variant,125(64.1%)cases were diagnosed by newborn screening(NBS),60(30.8%)cases were detected due to disease onset,and 10(5.1%)cases were identified from sibling diagnoses.One hundred and seventeen(93.6%)individuals who were diagnosed by NBS,and nine patients who came from sibling diagnoses remained asymptomatic in this study.From 69 symptomatic patients of the c.482G>A group,more patients presented with later onset,and the top six common clinical symptoms at disease onset were developmental delay(59.4%),lower limb weakness and poor exercise tolerance(50.7%),cognitive decline(37.7%),gait instability and abnormal posture(36.2%),seizures(26.1%),and psychiatric and behavioral disturbances(24.6%).In the 159 symptomatic patients lacking c.482G>A variants,the most frequently observed clinical manifestations at disease onset included developmental delay(81.8%),lethargy and feeding difficulty(62.9%),lower limb weakness and poor exercise tolerance(54.7%),prolonged neonatal jaundice(51.6%),vomiting(47.2%),and seizures(32.7%).Before treatment,the levels of blood propionylcarnitine,propionylcarnitine/acetylcarnitine ratio,and homocysteine in the c.482G>A group were significantly lower(P<0.05)than those in the non-c.482G>A group,while the concentration of urinary methylmalonic acid was slightly lower(P>0.05).The degree of decline in the above metabolites after treatment in different groups significantly differed in both plasma total homocysteine values and urinary methylmalonic acid levels(P<0.05).In patients carrying the c.482G>A variant compared with the non-c.428G>A group,there were markedly lower rates of mortality(0.5%vs.2.0%)and developmental delay(20.5%vs.65.5%).When compared with individuals diagnosed due to disease onset,those identified through NBS in either group exhibited a reduced proportion of disease onset(6.7%vs.100%in the c.482G>A group,54.4%vs.100%in the non-c.482G>A group),lower mortality(0.0%vs.1.7%in the c.482G>A group,0.0%vs.3.6%in the non-c.482G>A group),and had a higher percentage of patients exhibiting normal psychomotor and language development(99.3%vs.33.3%in the c.482G>A group,58.9%vs.10.9%in the non-c.482G>A group).Conclusions The c.482G>A variant in MMACHC is associated with late-onset and milder phenotypes of CblC disease.Patients with this mutation tend to have a relatively better response to hydroxocobalamin,better metabolic control,and more favorable neurological outcomes.NBS and other appropriate pre-symptomatic treatments seem to be helpful in early diagnosis,resulting in favorable clinical outcomes.展开更多
基金supported by the National Natural Science Foundation of China (22379157,22179139)the Key Research and Development (R&D) Projects of Shanxi Province(202102040201003)+1 种基金the Research Program of Shanxi Province(202203021211203)the ICC CAS (SCJC-XCL-2023-10 and SCJC-XCL-2023-13)
文摘The chemical activation of various precursors is effective for creating additional closed pores in hard carbons for sodium storage.However,the formation mechanism of closed pores under the influence of pore-forming agents is not well understood.Herein,an effective chemical activation followed by a high-temperature self-healing strategy is employed to generate interconnected closed pores in lignin-derived hard carbon(HCs).By systematic experimental design combined with electron paramagnetic res-onance spectroscopy,it can be found that the content of free radicals in the carbon matrix influences the closure of open pores at high temperatures.Excessively high activation temperature(>700 C)leads to a low free radical concentration,making it difficult to achieve self-healing of open pores at high tempera-tures.By activation at 700°C,a balance between pore making and self-healing is achieved in the final hard carbon.A large number of free radicals triggers rapid growth and aggregation of carbon microcrys-tals,blocking pre-formed open micropores and creating additional interconnected closed pores in as-obtained hard carbons.As a result,the optimized carbon anode(LK-700-1300)delivers a high reversible capacity of 330.8 mA h g^(-1) at 0.03 A g^(-1),which is an increase of 86 mA h g^(-1) compared to the pristine lignin-derived carbon anode(L-700-1300),and exhibits a good rate performance(202.1 mA h g^(-1) at 1 A g^(-1)).This work provides a universal and effective guidance for tuning closed pores of hard carbons from otherprecursors.
基金funded by the Scientific research Project Plan of Shanghai Municipal Health Commission(No.202140346)the National Key Research and Development Program of China(No.2016YFC0901505).
文摘Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese cases with CblC disease.Methods We carried out a national,retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G>A variant either in a homozygous or compound heterozygous state.The control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G>A mutation.Clinical features,including disease onset,symptoms,biochemical metabolites,gene mutation,and follow-up outcomes were reviewed and analyzed in detail.The median follow-up period spanned 3 years and 8 months,with a range of 1 year and 2 months to 12 years and 10 months.Results Among 195 patients carrying the c.482G>A variant,125(64.1%)cases were diagnosed by newborn screening(NBS),60(30.8%)cases were detected due to disease onset,and 10(5.1%)cases were identified from sibling diagnoses.One hundred and seventeen(93.6%)individuals who were diagnosed by NBS,and nine patients who came from sibling diagnoses remained asymptomatic in this study.From 69 symptomatic patients of the c.482G>A group,more patients presented with later onset,and the top six common clinical symptoms at disease onset were developmental delay(59.4%),lower limb weakness and poor exercise tolerance(50.7%),cognitive decline(37.7%),gait instability and abnormal posture(36.2%),seizures(26.1%),and psychiatric and behavioral disturbances(24.6%).In the 159 symptomatic patients lacking c.482G>A variants,the most frequently observed clinical manifestations at disease onset included developmental delay(81.8%),lethargy and feeding difficulty(62.9%),lower limb weakness and poor exercise tolerance(54.7%),prolonged neonatal jaundice(51.6%),vomiting(47.2%),and seizures(32.7%).Before treatment,the levels of blood propionylcarnitine,propionylcarnitine/acetylcarnitine ratio,and homocysteine in the c.482G>A group were significantly lower(P<0.05)than those in the non-c.482G>A group,while the concentration of urinary methylmalonic acid was slightly lower(P>0.05).The degree of decline in the above metabolites after treatment in different groups significantly differed in both plasma total homocysteine values and urinary methylmalonic acid levels(P<0.05).In patients carrying the c.482G>A variant compared with the non-c.428G>A group,there were markedly lower rates of mortality(0.5%vs.2.0%)and developmental delay(20.5%vs.65.5%).When compared with individuals diagnosed due to disease onset,those identified through NBS in either group exhibited a reduced proportion of disease onset(6.7%vs.100%in the c.482G>A group,54.4%vs.100%in the non-c.482G>A group),lower mortality(0.0%vs.1.7%in the c.482G>A group,0.0%vs.3.6%in the non-c.482G>A group),and had a higher percentage of patients exhibiting normal psychomotor and language development(99.3%vs.33.3%in the c.482G>A group,58.9%vs.10.9%in the non-c.482G>A group).Conclusions The c.482G>A variant in MMACHC is associated with late-onset and milder phenotypes of CblC disease.Patients with this mutation tend to have a relatively better response to hydroxocobalamin,better metabolic control,and more favorable neurological outcomes.NBS and other appropriate pre-symptomatic treatments seem to be helpful in early diagnosis,resulting in favorable clinical outcomes.
