p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of...p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.展开更多
Objective:Congenital heart disease(CHD)is caused by abnormal cardiac development,which is the most common congenital malformation at home and abroad.NKX2-5,GATA4 and ZIC3 have been shown to be associated with CHD.This...Objective:Congenital heart disease(CHD)is caused by abnormal cardiac development,which is the most common congenital malformation at home and abroad.NKX2-5,GATA4 and ZIC3 have been shown to be associated with CHD.This experiment explored the relationship between NKX2-5,GATA4 and ZIC3 gene mutations and sporadic CHD in Hainan Province.Methods:To collect 210 sporadic CHD patients in Hainan,the DNA of patients was extracted from blood,and the target gene fragments were amplified.Using high-resolution melting(HRM)and DNA sequencing technology,and we analyzed the sequences of NKX2-5,GATA4 and ZIC3 genes.Results:NKX2-5,GATA4 and ZIC3 genes were sequenced in 210 CHD patients,and seven gene mutations were found,including NKX2-5 heterozygous missense mutation(c.178G>T)and three heterozygous mutations in GATA4(c.677C>T,c.928A>G,c.1123G>A),three heterozygous mutations in ZIC3(c.19G>C,c.1255C>G,c.1348C>T),in which NKX2-5(c.178G>T),GATA4(c.1123G>A),and ZIC3(c.1255C>G,c.1348C>T)are new mutation sites.These gene mutations were predicted to be pathogenic mutations by bioinformatics software.Conclusion:Conclusion:Seven gene mutations were found in 210 patients,and it was the first report that the gene mutations of NKX2-5,GATA4 and ZIC3 in Hainan Province associated with the pathogenesis of CHD.展开更多
利用Arnol'd的Legendrian理论,对三维Anti de Sitter空间中Lorentzian曲面进行了研究.引入光维高度函数概念研究了三维Anti de Sitter空间Lorentzian曲面的S1t×S1s-值、光锥Gauss映射的奇点,进行了奇点分类,揭示了类光Causs-kr...利用Arnol'd的Legendrian理论,对三维Anti de Sitter空间中Lorentzian曲面进行了研究.引入光维高度函数概念研究了三维Anti de Sitter空间Lorentzian曲面的S1t×S1s-值、光锥Gauss映射的奇点,进行了奇点分类,揭示了类光Causs-kronecker曲率之间的关系;并研究了Lorentzian曲面的一些基本几何性质.展开更多
Mutation of the p53 gene is a key event in the carcinogenesis of many different types of tumours. These can occur throughout the length of the p53 gene. Anti-p53 auto-antibodies are commonly produced in response to th...Mutation of the p53 gene is a key event in the carcinogenesis of many different types of tumours. These can occur throughout the length of the p53 gene. Anti-p53 auto-antibodies are commonly produced in response to these p53 mutations. This review firstly describes the various mechanisms of p53 dysfunction and their association with subsequent carcinogenesis. Following this, the mechanisms of induction of anti-p53 auto-antibody production are shown, with various hypotheses for the discrepancies between the presence of p53 mutation and the presence/absence of anti-p53 auto-antibodies. A systematic review was performed with a descriptive summary of key findings of each anti-p53 auto-antibody study in all cancers published in the last 30 years. Using this, the cumulative frequency of anti-p53 autoantibody in each cancer type is calculated and then compared with the incidence of p53 mutation in each cancer to provide the largest sample calculation and correlation between mutation and anti-p53 auto-antibody published to date. Finally, the review focuses onthe data of anti-p53 auto-antibody in colorectal cancer studies, and discusses future strategies including the potentially promising role using anti-p53 auto-antibody presence in screening and surveillance.展开更多
Colorectal cancer(CRC) ranked third in cancer related death and its incidence has been increasing worldwide. In recent decades important therapeutic advances have been developed in treatment of metastatic CRC(mCRC), s...Colorectal cancer(CRC) ranked third in cancer related death and its incidence has been increasing worldwide. In recent decades important therapeutic advances have been developed in treatment of metastatic CRC(mCRC), such as monoclonal antibodies against epidermal growth factor receptor(anti-EGFR), which provided additional clinical benefits in mCRC. However, anti-EGFR therapies have limited usage due to approximately 95% of patients with KRAS mutated mCRC do not response to anti-EGFR treatment. Thus, KRAS mutation is predictive of nonresponse to anti-EGFR therapies but it alone is not a sufficient basis to decide who should not be received such therapies because; approximately fifty percent(40%-60%) of CRC patients with wild-type KRAS mutation also have poor response to anti-EGFR based treatment. This fact leads us to suspect that there must be other molecular determinants of response to anti-EGFR therapies which have not been identified yet. Current article summarizes the clinical efficacy of anti-EGFR therapies and also evaluates its resistance mechanisms.展开更多
It needs the foundation of system and the guarantee of organizational system for anti-corruption,but it is more necessary to build and form an effective anti-corruption mechanism,so that the anti-corruption can be rea...It needs the foundation of system and the guarantee of organizational system for anti-corruption,but it is more necessary to build and form an effective anti-corruption mechanism,so that the anti-corruption can be really put into practice. Anti-corruption mechanism refers to a organic operation system of the interaction,interconnection and constraint between the constituent elements( parts) and elements of national anti-corruption,and as a system,anti-corruption mechanism should have the characteristics of system aticness,comprehensiveness,transparency,legalization,public participation,scientific dynam ic,and internationalism. The construction of deepening anti-corruption mechanism is the need for reconstructing the ruling legitimacy of the party and the governm ent. Adhering to the principle of treating both root causes and symptoms is necessary in the construction of anti-corruption m echanism,com bating and punishing corruption is an important part of anti-corruption,and the prevention and control of corruption is the basic project of anti-corruption. Therefore,the construction of prevention and control mechanism in the anti-corruption mechanism has a more far-reaching significance.展开更多
fter the alcoholic group of serine located in the binding site of Anti-HumanIgM(Fcμ) (Rabbit IgG) was selectively activated by phenylmethylsulfonyl fluoride(PMSF) and displaced with hydrogen selenide(H2Se) , the seri...fter the alcoholic group of serine located in the binding site of Anti-HumanIgM(Fcμ) (Rabbit IgG) was selectively activated by phenylmethylsulfonyl fluoride(PMSF) and displaced with hydrogen selenide(H2Se) , the serine residue was con-verted to selenocysteine(SeCys). Because SeCys is a catalytic group of glutathioneperoxidase (GPX), the mutated antibody has the GPX activity which is seventytimes more than that of PZ51, the best GPX mimic in the world. Moreover, themutated antibody remains its original antibody titer.展开更多
A research on the process of cotton fabric flame-re-tarding,anti-bacterial finishing and one-bath finish-ing of anti-bacterial and flame-retarding is discussed.The flame retardant agent was phosphorous-contained,and t...A research on the process of cotton fabric flame-re-tarding,anti-bacterial finishing and one-bath finish-ing of anti-bacterial and flame-retarding is discussed.The flame retardant agent was phosphorous-contained,and the bacteriostatic finishing agent named SFR-1 wassynthesized.The flame retardancy of the fabric finishedcan meet the DOC FF3-71 Children Sleepwear Stan-dard.Its bacterial inhibiting capacity can meet and ex-ceed the requirements of similar products展开更多
Friction spun core yarn has two components: filament core and staple fiber sheath. Under axial rubbing action, the failure mode of the core yarn is the stripping of the sheath from the core. This paper introduces a me...Friction spun core yarn has two components: filament core and staple fiber sheath. Under axial rubbing action, the failure mode of the core yarn is the stripping of the sheath from the core. This paper introduces a method to test the anti - stripping property of the core yarn. With a modified Universal Testing Machine, the stripping resistance of friction spun core yarn can be continuously measured. Some factors Influencing the measurements are discussed in detail. The testing results are compared with those from a Y731 Yarn Abrasion Tester and fur - ther confirmed by weaving practice.展开更多
基金Anhui Province Central Guided Local Science and Technology Development Funding Project,No.2017070802D147Anhui Province Key Clinical Specialist Construction Fund.
文摘p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.
基金Natural Science Foundation of Hainan Province(No.821RC562)Re-research Project of Hainan Province(No.ZDYF2022SHF2081)+1 种基金National Natural Science Foundation of China(No.81660224)Graduate Innovation Project of Hainan Province(No.Qhys2021-353)。
文摘Objective:Congenital heart disease(CHD)is caused by abnormal cardiac development,which is the most common congenital malformation at home and abroad.NKX2-5,GATA4 and ZIC3 have been shown to be associated with CHD.This experiment explored the relationship between NKX2-5,GATA4 and ZIC3 gene mutations and sporadic CHD in Hainan Province.Methods:To collect 210 sporadic CHD patients in Hainan,the DNA of patients was extracted from blood,and the target gene fragments were amplified.Using high-resolution melting(HRM)and DNA sequencing technology,and we analyzed the sequences of NKX2-5,GATA4 and ZIC3 genes.Results:NKX2-5,GATA4 and ZIC3 genes were sequenced in 210 CHD patients,and seven gene mutations were found,including NKX2-5 heterozygous missense mutation(c.178G>T)and three heterozygous mutations in GATA4(c.677C>T,c.928A>G,c.1123G>A),three heterozygous mutations in ZIC3(c.19G>C,c.1255C>G,c.1348C>T),in which NKX2-5(c.178G>T),GATA4(c.1123G>A),and ZIC3(c.1255C>G,c.1348C>T)are new mutation sites.These gene mutations were predicted to be pathogenic mutations by bioinformatics software.Conclusion:Conclusion:Seven gene mutations were found in 210 patients,and it was the first report that the gene mutations of NKX2-5,GATA4 and ZIC3 in Hainan Province associated with the pathogenesis of CHD.
文摘利用Arnol'd的Legendrian理论,对三维Anti de Sitter空间中Lorentzian曲面进行了研究.引入光维高度函数概念研究了三维Anti de Sitter空间Lorentzian曲面的S1t×S1s-值、光锥Gauss映射的奇点,进行了奇点分类,揭示了类光Causs-kronecker曲率之间的关系;并研究了Lorentzian曲面的一些基本几何性质.
文摘Mutation of the p53 gene is a key event in the carcinogenesis of many different types of tumours. These can occur throughout the length of the p53 gene. Anti-p53 auto-antibodies are commonly produced in response to these p53 mutations. This review firstly describes the various mechanisms of p53 dysfunction and their association with subsequent carcinogenesis. Following this, the mechanisms of induction of anti-p53 auto-antibody production are shown, with various hypotheses for the discrepancies between the presence of p53 mutation and the presence/absence of anti-p53 auto-antibodies. A systematic review was performed with a descriptive summary of key findings of each anti-p53 auto-antibody study in all cancers published in the last 30 years. Using this, the cumulative frequency of anti-p53 autoantibody in each cancer type is calculated and then compared with the incidence of p53 mutation in each cancer to provide the largest sample calculation and correlation between mutation and anti-p53 auto-antibody published to date. Finally, the review focuses onthe data of anti-p53 auto-antibody in colorectal cancer studies, and discusses future strategies including the potentially promising role using anti-p53 auto-antibody presence in screening and surveillance.
文摘Colorectal cancer(CRC) ranked third in cancer related death and its incidence has been increasing worldwide. In recent decades important therapeutic advances have been developed in treatment of metastatic CRC(mCRC), such as monoclonal antibodies against epidermal growth factor receptor(anti-EGFR), which provided additional clinical benefits in mCRC. However, anti-EGFR therapies have limited usage due to approximately 95% of patients with KRAS mutated mCRC do not response to anti-EGFR treatment. Thus, KRAS mutation is predictive of nonresponse to anti-EGFR therapies but it alone is not a sufficient basis to decide who should not be received such therapies because; approximately fifty percent(40%-60%) of CRC patients with wild-type KRAS mutation also have poor response to anti-EGFR based treatment. This fact leads us to suspect that there must be other molecular determinants of response to anti-EGFR therapies which have not been identified yet. Current article summarizes the clinical efficacy of anti-EGFR therapies and also evaluates its resistance mechanisms.
文摘It needs the foundation of system and the guarantee of organizational system for anti-corruption,but it is more necessary to build and form an effective anti-corruption mechanism,so that the anti-corruption can be really put into practice. Anti-corruption mechanism refers to a organic operation system of the interaction,interconnection and constraint between the constituent elements( parts) and elements of national anti-corruption,and as a system,anti-corruption mechanism should have the characteristics of system aticness,comprehensiveness,transparency,legalization,public participation,scientific dynam ic,and internationalism. The construction of deepening anti-corruption mechanism is the need for reconstructing the ruling legitimacy of the party and the governm ent. Adhering to the principle of treating both root causes and symptoms is necessary in the construction of anti-corruption m echanism,com bating and punishing corruption is an important part of anti-corruption,and the prevention and control of corruption is the basic project of anti-corruption. Therefore,the construction of prevention and control mechanism in the anti-corruption mechanism has a more far-reaching significance.
文摘fter the alcoholic group of serine located in the binding site of Anti-HumanIgM(Fcμ) (Rabbit IgG) was selectively activated by phenylmethylsulfonyl fluoride(PMSF) and displaced with hydrogen selenide(H2Se) , the serine residue was con-verted to selenocysteine(SeCys). Because SeCys is a catalytic group of glutathioneperoxidase (GPX), the mutated antibody has the GPX activity which is seventytimes more than that of PZ51, the best GPX mimic in the world. Moreover, themutated antibody remains its original antibody titer.
基金The project serial number 92B0716Shanghai Natural Science Foundation
文摘A research on the process of cotton fabric flame-re-tarding,anti-bacterial finishing and one-bath finish-ing of anti-bacterial and flame-retarding is discussed.The flame retardant agent was phosphorous-contained,and the bacteriostatic finishing agent named SFR-1 wassynthesized.The flame retardancy of the fabric finishedcan meet the DOC FF3-71 Children Sleepwear Stan-dard.Its bacterial inhibiting capacity can meet and ex-ceed the requirements of similar products
文摘Friction spun core yarn has two components: filament core and staple fiber sheath. Under axial rubbing action, the failure mode of the core yarn is the stripping of the sheath from the core. This paper introduces a method to test the anti - stripping property of the core yarn. With a modified Universal Testing Machine, the stripping resistance of friction spun core yarn can be continuously measured. Some factors Influencing the measurements are discussed in detail. The testing results are compared with those from a Y731 Yarn Abrasion Tester and fur - ther confirmed by weaving practice.
