We perform a series of high-pressure synchrotron x-ray diffraction （XRD） and resistance measurements on the Weyl semimetal NbAs. The crystal structure remains stable up to 26 GPa according to the powder XRD data. Th...We perform a series of high-pressure synchrotron x-ray diffraction （XRD） and resistance measurements on the Weyl semimetal NbAs. The crystal structure remains stable up to 26 GPa according to the powder XRD data. The resistance of NbAs single crystal increases monotonically with pressure at low temperature. Up to 20 GPa, no superconducting transition is observed down to 0.3 K. These results show that the Weyl semimetal phase is robust in NbAs, and applying pressure may not be a good way to obtain a topological superconductor from Weyl semimetal NbAs.展开更多
Objective To analyze the clinical and genetic features of four children with pediatric acute liver failure(PALF)caused by neuroblastoma-amplified sequence(NBAS)gene variant,as well as the correlation between clinical ...Objective To analyze the clinical and genetic features of four children with pediatric acute liver failure(PALF)caused by neuroblastoma-amplified sequence(NBAS)gene variant,as well as the correlation between clinical phenotype and genotype.Methods The clinical data and genetic test results of four children with NBAS gene variants admitted to the Department of Gastroenterology,Children's Hospital Affiliated to Zhejiang University School of Medicine from August 2015 to June 2023 mainly presenting with pediatric acuteliverfailure(PALF)were retrospectively analyzed.The relevant literature from January 2015 to May 2024 was retrieved using the Chinese and English keywords"NBAS,""neuroblastoma amplified sequence,""SOPH,""short stature with optic nerve atrophy and Pelger Huet anomaly,""liver failure,"and"neuroblastoma amplified sequence"indexed in the CNKI database,Wanfang Data Knowledge Service Platform,and PubMed database.The clinical features and gene mutation characteristics of domestic patients were summarized.Results The age at which the initial PALF attack occurred in the four children varied from eight months to three years and seven months.All patients developed PALF within 1-2 days after the onset of fever,with symptoms such as vomiting,convulsions,and mental depression or confusion,accompanied by a sharp increase in transaminases,elevated bilirubin and blood ammonia,hyperlactatemia,and hepatomegaly.The PALF gradually improved,and three pediatric patients showed extrahepatic manifestations following antipyretic,fluid replacement,and other symptomatic supportive treatment.Long-term follow-up showed that active temperature control and symptomatic therapy reduced the recurrence of PALF.Genetic testing identified eight kinds of NBASgenevariantssites.Family testing validated compound heterozygous variants,which included four missense variants,one nonsense variants,and three frameshift mutations.A literature study revealed that out of 51 Chinese patients with NBAS gene variants,98.0%(50/51)had liver involvement,and 37 cases showed PALF.A total of 61 mutation sites were identified,with c.3596G>A(45.1%,23/51)as a hotspot variants.Conclusion PALF caused by NBAS gene variant has obvious clinical and genetic characteristics,and there is a correlation between genotype and clinical phenotype.The c.3596G>A variant site is a hotspot mutation in China and is strongly correlated with the liver failure phenotype.展开更多
基金Supported by the National Natural Science Foundation of China under Grant Nos 11422429 and 11421404the National Basic Research Program of China under Grant Nos 2012CB821402 and 2015CB921401+5 种基金the China Postdoctoral Science Foundation under Grant No 2014M560288the Program for Professor of Special Appointment(Eastern Scholar) at Shanghai Institutions of Higher Learningthe Science and Technology Commission of Shanghai Municipality of China under Grant No 15XD1500200HPCAT operations are supported by DOE-NNSA under Award No DE-NA0001974DOE-BES under Award No DE-FG02-99ER45775partial instrumentation funding by NSF
文摘We perform a series of high-pressure synchrotron x-ray diffraction （XRD） and resistance measurements on the Weyl semimetal NbAs. The crystal structure remains stable up to 26 GPa according to the powder XRD data. The resistance of NbAs single crystal increases monotonically with pressure at low temperature. Up to 20 GPa, no superconducting transition is observed down to 0.3 K. These results show that the Weyl semimetal phase is robust in NbAs, and applying pressure may not be a good way to obtain a topological superconductor from Weyl semimetal NbAs.
文摘Objective To analyze the clinical and genetic features of four children with pediatric acute liver failure(PALF)caused by neuroblastoma-amplified sequence(NBAS)gene variant,as well as the correlation between clinical phenotype and genotype.Methods The clinical data and genetic test results of four children with NBAS gene variants admitted to the Department of Gastroenterology,Children's Hospital Affiliated to Zhejiang University School of Medicine from August 2015 to June 2023 mainly presenting with pediatric acuteliverfailure(PALF)were retrospectively analyzed.The relevant literature from January 2015 to May 2024 was retrieved using the Chinese and English keywords"NBAS,""neuroblastoma amplified sequence,""SOPH,""short stature with optic nerve atrophy and Pelger Huet anomaly,""liver failure,"and"neuroblastoma amplified sequence"indexed in the CNKI database,Wanfang Data Knowledge Service Platform,and PubMed database.The clinical features and gene mutation characteristics of domestic patients were summarized.Results The age at which the initial PALF attack occurred in the four children varied from eight months to three years and seven months.All patients developed PALF within 1-2 days after the onset of fever,with symptoms such as vomiting,convulsions,and mental depression or confusion,accompanied by a sharp increase in transaminases,elevated bilirubin and blood ammonia,hyperlactatemia,and hepatomegaly.The PALF gradually improved,and three pediatric patients showed extrahepatic manifestations following antipyretic,fluid replacement,and other symptomatic supportive treatment.Long-term follow-up showed that active temperature control and symptomatic therapy reduced the recurrence of PALF.Genetic testing identified eight kinds of NBASgenevariantssites.Family testing validated compound heterozygous variants,which included four missense variants,one nonsense variants,and three frameshift mutations.A literature study revealed that out of 51 Chinese patients with NBAS gene variants,98.0%(50/51)had liver involvement,and 37 cases showed PALF.A total of 61 mutation sites were identified,with c.3596G>A(45.1%,23/51)as a hotspot variants.Conclusion PALF caused by NBAS gene variant has obvious clinical and genetic characteristics,and there is a correlation between genotype and clinical phenotype.The c.3596G>A variant site is a hotspot mutation in China and is strongly correlated with the liver failure phenotype.
