Previous studies suggest that the atmospheric precursor of E1 Nifio-Southern Oscillation (ENSO) in the extratropical Southern Hemisphere (SH) might trigger a quadrapole sea surface temperature anomaly (SSTA) in ...Previous studies suggest that the atmospheric precursor of E1 Nifio-Southern Oscillation (ENSO) in the extratropical Southern Hemisphere (SH) might trigger a quadrapole sea surface temperature anomaly (SSTA) in the South Pacific and subsequently influence the following ENSO. Such a quadrapole SSTA is referred to as the South Pacific quadrapole (SPQ). The present study investigated the relationships between the atmospheric precursor signal of ENSO and leading modes of atmospheric variability in the extratropical SH [including the SH annular mode (SAM), the first Pacific-South America (PSA1) mode, and the second Pacific-South America (PSA2) mode]. The results showed that the atmospheric precursor signal in the extratropical SH basically exhibits a barotropic wavenumber-3 structure over the South Pacific and is significantly correlated with the SAM and the PSA2 mode during austral summer. Nevertheless, only the PSA2 mode was found to be a precursor for the following ENSO. It leads the SPQ-like SSTA by around one month, while the SAM and the PSA1 mode do not show any obvious linkage with either ENSO or the SPQ. This suggests that the PSA2 mode may provide a bridge between the preceding circulation anomalies over the extratropical SH and the following ENSO through the SPQ-like SSTA.展开更多
Objective: To discuss the influence of rehabilitation training combined with hyperbaric oxygen therapy on the nerve cytokine secretion and oxidative stress in rehabilitation period of patients with cerebral infarction...Objective: To discuss the influence of rehabilitation training combined with hyperbaric oxygen therapy on the nerve cytokine secretion and oxidative stress in rehabilitation period of patients with cerebral infarction. Methods: A total of 110 patients with cerebral infarction who received rehabilitation therapy in the hospital between January 2015 and May 2017 were divided into routine group (n=55) and hyperbaric oxygen group (n=55) according to random number table. Routine group received regular rehabilitation training, and hyperbaric oxygen group underwent rehabilitation training combined with hyperbaric oxygen therapy. The differences in the serum contents of nerve factors, neurotransmitters and oxidative stress indexes were compared between the two groups at immediately after admission (T0) and after 14 d of treatment (T1). Results: At T0, there was no statistically significant difference in the serum contents of nerve factors, neurotransmitters and oxidative stress indexes between the two groups. At T1, serum nerve factors MBP and NSE contents of hyperbaric oxygen group were lower than those of routine group while NGF content was higher than that of routine group;serum neurotransmitter Glu content was lower than that of routine group while GABA content was higher than that of routine group;serum oxidative stress indexes ROS and LHP contents were lower than those of routine group while CAT and SOD contents were higher than those of routine group. Conclusion: Rehabilitation training combined with hyperbaric oxygen therapy can effectively optimize the nerve function and inhibit the systemic oxidative stress response in rehabilitation period of patients with cerebral infarction.展开更多
Trigeminal inflammatory pain is one of the most severe pain-related disorders in humans;however,the underlying mechanisms remain largely unknown.In this study,we investigated the possible contribution of interaction b...Trigeminal inflammatory pain is one of the most severe pain-related disorders in humans;however,the underlying mechanisms remain largely unknown.In this study,we investigated the possible contribution of interaction between ten-eleven translocation methylcytosine dioxygenase 1(TET1)and the voltage-gated K^(+)channel Kv7.2(encoded by Kcnq2)to orofacial inflammatory pain in mice.We found that complete Freund’s adjuvant(CFA)injection reduced the expression of Kcnq2/Kv7.2 in the trigeminal ganglion(TG)and induced orofacial inflammatory pain.The involvement of Kv7.2 in CFA-induced orofacial pain was further confirmed by Kv7.2 knockdown or overexpression.Moreover,TET1 knockdown in Tet1^(flox/flox)mice significantly reduced the expression of Kv7.2 and M currents in the TG and led to pain-like behaviors.Conversely,TET1 overexpression by lentivirus rescued the CFA-induced decreases of Kcnq2 and M currents and alleviated mechanical allodynia.Our data suggest that TET1 is implicated in CFA-induced trigeminal inflammatory pain by positively regulating Kv7.2 in TG neurons.展开更多
Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clin...Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clinical genetic testing in short stature has been implicated,the genetic architecture and the utility of genomic studies such as exome sequencing(ES)in a sizable cohort of patients with short stature have not been investigated systematically.In this study,we recruited 561 individuals with short stature from two centers in China during a 4-year period.We performed ES for all patients and available parents.All patients were retrospectively divided into two groups:an isolated short stature group(group I,n=257)and an apparently syndromic short stature group(group II,n=304).Causal variants were identified in 135 of 561(24.1%)patients.In group I,29 of 257(11.3%)of the patients were solved by variants in 24 genes.In group II,106 of 304(34.9%)patients were solved by variants in 57 genes.Genes involved in fundamental cellularprocess played an important role in the genetic architecture of syndromic short stature.Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature.展开更多
The development of two-dimensional hybrid nanomaterial derived from MXenes as high performance electrode material is the key component for the advanced ene rgy storage and conversion systems.In the past decades,MXene ...The development of two-dimensional hybrid nanomaterial derived from MXenes as high performance electrode material is the key component for the advanced ene rgy storage and conversion systems.In the past decades,MXene derived nanomaterials have attracted greatly interest in scientific activity and potential applications because of their unique synergistic properties such as high thermal stability,excellent electrical conductivity,large surface area,easy to handle and outstanding electro and photo chemical properties.This review is focused on the synthesis of hybrid nanomaterials from MXene(Ti3C2Tx)for renewable energy conversion and storage application including hydrogen evolution reaction,supercapacitor,lithium-ion batteries and photocatalysis.Finally,we also summarized the prospect and opportunities of novel two-dimensional hybrid nanomaterials derived MXene(Ti3C2Tx)fo r futuristic sustainable energy technology.展开更多
Dear Editor,Congenital scoliosis(CS)is a spinal malformation charac-terized by failure of vertebral formation or segmentation,or a mix of these deformities,resulting in longitudinal and rotational imbalance,and affect...Dear Editor,Congenital scoliosis(CS)is a spinal malformation charac-terized by failure of vertebral formation or segmentation,or a mix of these deformities,resulting in longitudinal and rotational imbalance,and affects 0.05-0.1%of new-borns(Wu et al.2015).It is generally understood that the development of CS has an underlying genetic basis.Specifically,genes related to somite regulation or osteo-genesis during embryonic development are believed to be responsible for the vertebral malformations observed in CS patients(Pourquie 2011).展开更多
Background:Brain arteriovenous malformations(BAVMs)are abnormal vessels that are apt to rupture,causing lifethreatening intracranial hemorrhage(ICH).The estimated prevalence of BAVMs is 0.05%among otherwise healthy in...Background:Brain arteriovenous malformations(BAVMs)are abnormal vessels that are apt to rupture,causing lifethreatening intracranial hemorrhage(ICH).The estimated prevalence of BAVMs is 0.05%among otherwise healthy individuals.In this study,we aim to investigate the mutational spectrum of syndromic genes in sporadic BAVM.Methods:We recruited a cohort of 150 patients with BAVM and performed whole-exome sequencing on their peripheral blood DNA.To explore the mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation,we selected six genes according to the Online Mendelian Inheritance in Man(OMIM)and literature.All variants in the six candidate genes were extracted and underwent filtering for qualifying variants.Results:There are a total of four patients with rare variants in hereditary hemorrhagic telangiectasia-related genes.In addition,we identified two patients have the variant of RASA1 gene in our database,which are also rare mutations that are absent from population databases.However,we did not find any patients with GNAQ mutations in our database.Conclusions:In conclusion,we demonstrated that variants in syndromic vascular malformations play important roles in the etiology of sporadic BAVM.展开更多
Developments in genetics and genomics are progressing at an unprecedented speed.Twenty years ago,the human genome project provided the first glimpses into the human genome sequence and launched a new era of human gene...Developments in genetics and genomics are progressing at an unprecedented speed.Twenty years ago,the human genome project provided the first glimpses into the human genome sequence and launched a new era of human genetics.The emerging of next-generation sequencing(NGS)in 2005 then made possible comprehensive genetic testing such as exome sequencing and genome sequencing.Meanwhile,great efforts have been put into the optimization of bioinformatic pipelines to make increasingly speedy and accurate variant analyses based on NGS data.These advances in sequencing technologies and analytical methods have revolutionized the diagnostic odyssey of suspected hereditary diseases.More recently,the genotype-phenotype relationship and polygenic risk scores(PRSs)generated from genome-wide association studies have expanded our horizon from rare genetic mutations to a genomic landscape implicated by the combined effect of both rare variants and polymorphisms.At the same time,clinicians and genetic counselors are facing huge challenges conferred by overwhelming genomic knowledge and long sheets of testing reports for comprehensive genomic sequencing.The path toward the“next-generation”clinical genetics and genomics may underlie semiautomatic pipelines assisted by artificial intelligence techniques.展开更多
基金jointly supported by the China Special Fund for Meteorological Research in the Public Interest(Grant No.GYHY201506013)the 973 project of China(Grant No.2012CB955200)+2 种基金the National Natural Science Foundation of China for Excellent Young Scholars(Grant No.41522502)the Strategic Priority Research Program of the Chinese Academy of Sciences(Grant No.XDA11010303)the National Natural Science Foundation of China(Grant Nos.41575075,91437216 and 91637312)
文摘Previous studies suggest that the atmospheric precursor of E1 Nifio-Southern Oscillation (ENSO) in the extratropical Southern Hemisphere (SH) might trigger a quadrapole sea surface temperature anomaly (SSTA) in the South Pacific and subsequently influence the following ENSO. Such a quadrapole SSTA is referred to as the South Pacific quadrapole (SPQ). The present study investigated the relationships between the atmospheric precursor signal of ENSO and leading modes of atmospheric variability in the extratropical SH [including the SH annular mode (SAM), the first Pacific-South America (PSA1) mode, and the second Pacific-South America (PSA2) mode]. The results showed that the atmospheric precursor signal in the extratropical SH basically exhibits a barotropic wavenumber-3 structure over the South Pacific and is significantly correlated with the SAM and the PSA2 mode during austral summer. Nevertheless, only the PSA2 mode was found to be a precursor for the following ENSO. It leads the SPQ-like SSTA by around one month, while the SAM and the PSA1 mode do not show any obvious linkage with either ENSO or the SPQ. This suggests that the PSA2 mode may provide a bridge between the preceding circulation anomalies over the extratropical SH and the following ENSO through the SPQ-like SSTA.
文摘Objective: To discuss the influence of rehabilitation training combined with hyperbaric oxygen therapy on the nerve cytokine secretion and oxidative stress in rehabilitation period of patients with cerebral infarction. Methods: A total of 110 patients with cerebral infarction who received rehabilitation therapy in the hospital between January 2015 and May 2017 were divided into routine group (n=55) and hyperbaric oxygen group (n=55) according to random number table. Routine group received regular rehabilitation training, and hyperbaric oxygen group underwent rehabilitation training combined with hyperbaric oxygen therapy. The differences in the serum contents of nerve factors, neurotransmitters and oxidative stress indexes were compared between the two groups at immediately after admission (T0) and after 14 d of treatment (T1). Results: At T0, there was no statistically significant difference in the serum contents of nerve factors, neurotransmitters and oxidative stress indexes between the two groups. At T1, serum nerve factors MBP and NSE contents of hyperbaric oxygen group were lower than those of routine group while NGF content was higher than that of routine group;serum neurotransmitter Glu content was lower than that of routine group while GABA content was higher than that of routine group;serum oxidative stress indexes ROS and LHP contents were lower than those of routine group while CAT and SOD contents were higher than those of routine group. Conclusion: Rehabilitation training combined with hyperbaric oxygen therapy can effectively optimize the nerve function and inhibit the systemic oxidative stress response in rehabilitation period of patients with cerebral infarction.
基金supported by the National Natural Science Foundation of China(81771195 and 81971061)the Program for Innovative Research Team in Universities of Henan Province(22IRTSTHN028).
文摘Trigeminal inflammatory pain is one of the most severe pain-related disorders in humans;however,the underlying mechanisms remain largely unknown.In this study,we investigated the possible contribution of interaction between ten-eleven translocation methylcytosine dioxygenase 1(TET1)and the voltage-gated K^(+)channel Kv7.2(encoded by Kcnq2)to orofacial inflammatory pain in mice.We found that complete Freund’s adjuvant(CFA)injection reduced the expression of Kcnq2/Kv7.2 in the trigeminal ganglion(TG)and induced orofacial inflammatory pain.The involvement of Kv7.2 in CFA-induced orofacial pain was further confirmed by Kv7.2 knockdown or overexpression.Moreover,TET1 knockdown in Tet1^(flox/flox)mice significantly reduced the expression of Kv7.2 and M currents in the TG and led to pain-like behaviors.Conversely,TET1 overexpression by lentivirus rescued the CFA-induced decreases of Kcnq2 and M currents and alleviated mechanical allodynia.Our data suggest that TET1 is implicated in CFA-induced trigeminal inflammatory pain by positively regulating Kv7.2 in TG neurons.
基金funded in part by the Beijing Natural Science Foundation(JQ20032 to N.W.and to 7191007 to Z.W.)National Natural Science Foundation of China(81822030 and 82072391 to N.W.,81772299and 81930068 to Z.W.,81772301 and 81972132 to G.Q.,81672123and 81972037 to J.Z.)+7 种基金Capital's Funds for Health Improvement and Research(2020-4-40114 to N.W.)Tsinghua University-Peking Union Medical College Hospital Initiative Scientific Research ProgramNational Key Research and Development Program of China(2018YFC0910500 to N.W.and Z.W.,2016YFC0901501 to S.Z.)the PUMC Youth Fund and the Fundamental Research Funds for the Central Universities(3332019052 to Y.M.)the CAMS Initiative Fund for Medical Sciences(2016-I2M-3-003 to G.Q.and N.W.,2016-I2M-2-006 and 2017-I2M-2-001 to Z.W.)the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(2019PT320025 to N.W.)sponsored by GeneScience Pharmaceuticals Co.,Ltd.(Changchun,China)funded by the United States National Institutes of Health(UM1HG006542 and K08 HG008986)。
文摘Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clinical genetic testing in short stature has been implicated,the genetic architecture and the utility of genomic studies such as exome sequencing(ES)in a sizable cohort of patients with short stature have not been investigated systematically.In this study,we recruited 561 individuals with short stature from two centers in China during a 4-year period.We performed ES for all patients and available parents.All patients were retrospectively divided into two groups:an isolated short stature group(group I,n=257)and an apparently syndromic short stature group(group II,n=304).Causal variants were identified in 135 of 561(24.1%)patients.In group I,29 of 257(11.3%)of the patients were solved by variants in 24 genes.In group II,106 of 304(34.9%)patients were solved by variants in 57 genes.Genes involved in fundamental cellularprocess played an important role in the genetic architecture of syndromic short stature.Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature.
基金the funding support from the Science and Technology Committee of Shannxi Province(No.2011KGXX47)the fund of the State Key Laboratory of Solidification Processing in NWPU(No.SKLSP201845)。
文摘The development of two-dimensional hybrid nanomaterial derived from MXenes as high performance electrode material is the key component for the advanced ene rgy storage and conversion systems.In the past decades,MXene derived nanomaterials have attracted greatly interest in scientific activity and potential applications because of their unique synergistic properties such as high thermal stability,excellent electrical conductivity,large surface area,easy to handle and outstanding electro and photo chemical properties.This review is focused on the synthesis of hybrid nanomaterials from MXene(Ti3C2Tx)for renewable energy conversion and storage application including hydrogen evolution reaction,supercapacitor,lithium-ion batteries and photocatalysis.Finally,we also summarized the prospect and opportunities of novel two-dimensional hybrid nanomaterials derived MXene(Ti3C2Tx)fo r futuristic sustainable energy technology.
基金This research was funded in part by Beijing Natural Science Foundation(JQ20032 to N.W.,7191007 to ZW)the National Natural Science Foundation of China(81822030 and 82072391 to NW,81930068 and 81772299 to ZW,81972132 to GQ,81672123 and 81972037 to TJZ,81871746 to YW)the China Postdoctoral Science Foundation(No.2020TQ0052 to ZL).
文摘Dear Editor,Congenital scoliosis(CS)is a spinal malformation charac-terized by failure of vertebral formation or segmentation,or a mix of these deformities,resulting in longitudinal and rotational imbalance,and affects 0.05-0.1%of new-borns(Wu et al.2015).It is generally understood that the development of CS has an underlying genetic basis.Specifically,genes related to somite regulation or osteo-genesis during embryonic development are believed to be responsible for the vertebral malformations observed in CS patients(Pourquie 2011).
基金This study was sponsored by the National Key Research and Development Plan of China(grant number: 2016YFC1300800)the National Natural Science Foundation of China(grant numbers: 81901178, 82072036 and 81822030)+1 种基金the Special Research Project for Capital Health Development(grant number: 2018-4-1077)Beijing Natural Science Foundation(JQ20032)
文摘Background:Brain arteriovenous malformations(BAVMs)are abnormal vessels that are apt to rupture,causing lifethreatening intracranial hemorrhage(ICH).The estimated prevalence of BAVMs is 0.05%among otherwise healthy individuals.In this study,we aim to investigate the mutational spectrum of syndromic genes in sporadic BAVM.Methods:We recruited a cohort of 150 patients with BAVM and performed whole-exome sequencing on their peripheral blood DNA.To explore the mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation,we selected six genes according to the Online Mendelian Inheritance in Man(OMIM)and literature.All variants in the six candidate genes were extracted and underwent filtering for qualifying variants.Results:There are a total of four patients with rare variants in hereditary hemorrhagic telangiectasia-related genes.In addition,we identified two patients have the variant of RASA1 gene in our database,which are also rare mutations that are absent from population databases.However,we did not find any patients with GNAQ mutations in our database.Conclusions:In conclusion,we demonstrated that variants in syndromic vascular malformations play important roles in the etiology of sporadic BAVM.
基金supported by the National Natural Science Founda-tion of China(Grant Nos.81822030 and 82072391 to N.W.,81930068 and 81772299 to Z.W.,81772301 and 81972132 to G.Q.,81672123 and 81972037 to J.Z.)Beijing Natural Science Foundation(Grant Nos.JQ20032 to N.W.,and 7191007 to Z.W.)+1 种基金Tsinghua University-Peking Union Medical College Hospital Initiative Scientific Research Program,Non-profit Central Research Institute Fund of Chinese Academy of Med-ical Sciences(Grant No.2019PT320025)the National Undergradu-ates Innovation and Training Program of Peking Union Medical College(Grant Nos.202010023022 to S.Z.).
文摘Developments in genetics and genomics are progressing at an unprecedented speed.Twenty years ago,the human genome project provided the first glimpses into the human genome sequence and launched a new era of human genetics.The emerging of next-generation sequencing(NGS)in 2005 then made possible comprehensive genetic testing such as exome sequencing and genome sequencing.Meanwhile,great efforts have been put into the optimization of bioinformatic pipelines to make increasingly speedy and accurate variant analyses based on NGS data.These advances in sequencing technologies and analytical methods have revolutionized the diagnostic odyssey of suspected hereditary diseases.More recently,the genotype-phenotype relationship and polygenic risk scores(PRSs)generated from genome-wide association studies have expanded our horizon from rare genetic mutations to a genomic landscape implicated by the combined effect of both rare variants and polymorphisms.At the same time,clinicians and genetic counselors are facing huge challenges conferred by overwhelming genomic knowledge and long sheets of testing reports for comprehensive genomic sequencing.The path toward the“next-generation”clinical genetics and genomics may underlie semiautomatic pipelines assisted by artificial intelligence techniques.