Information was obtained from the same questionnaire (23 risk factors listed) of cases and controls. We used a multivariate logistic model, which described variables significantly increased risk of birth defects....Information was obtained from the same questionnaire (23 risk factors listed) of cases and controls. We used a multivariate logistic model, which described variables significantly increased risk of birth defects. The risk factors included maternal educational levels, medicine taken during pregnancy and antenatal care. It was suggested to strengthen antenatal care was the main preventive measure against birth defects.展开更多
Microspheres containing nerve growth factor for sustained release were prepared by a compound method, and implanted into chitosan conduits to repair 10-mm defects on the right buccal branches of the facial nerve in ra...Microspheres containing nerve growth factor for sustained release were prepared by a compound method, and implanted into chitosan conduits to repair 10-mm defects on the right buccal branches of the facial nerve in rabbits. In addition, chitosan conduits combined with nerve growth factor or normal saline, as well as autologous nerve, were used as controls. At 90 days post-surgery, the muscular atrophy on the right upper lip was more evident in the nerve growth factor and normal sa- line groups than in the nerve growth factor-microspheres and autologous nerve groups. Electro- physiological analysis revealed that the nerve conduction velocity and amplitude were significantly higher in the nerve growth factor-microspheres and autologous nerve groups than in the nerve growth factor and normal saline groups. Moreover, histological observation illustrated that the di- ameter, number, alignment and myelin sheath thickness of myelinated nerves derived from rabbits were higher in the nerve growth factor-microspheres and autologous nerve groups than in the nerve growth factor and normal saline groups. These findings indicate that chitosan nerve conduits com- bined with microspheres for sustained release of nerve growth factor can significantly improve facial nerve defect repair in rabbits.展开更多
The present study involved a questionnaire survey of 156 mothers that gave birth to children with neural tube defects or had a history of pregnancy resulting in children with neural tube defects （case group） and 156...The present study involved a questionnaire survey of 156 mothers that gave birth to children with neural tube defects or had a history of pregnancy resulting in children with neural tube defects （case group） and 156 control mothers with concurrent healthy children （control group） as well as detection of mitochondrial membrane transporter protein gene [uncoupling protein 2 （UCP2）] polymorphism. The maternal UCP2 3＇ untranslated region （UTR） D/D genotype and D allele frequency were significantly higher in the case group compared with the control group （odds ratio （OR） 3.233; 95% confidence interval （C/） 1.103 9.476; P= 0.040; OR： 3.484; 95% CI： for neural tube defects 2.109 5.753; P 〈 0.001）. Univariate and multivariate logistic regression analysis of risk factors for neural tube defects showed that a matemal UCP2 3＇ UTR D/D genotype was negatively interacted with the mothers＇ consumption of frequent fresh fruit and vegetables （S = 0.007）, positively interacted with the mothers＇ frequency of germinated potato consumption （S = 2.15） and positively interacted with the mothers＇ body mass index （S = 3.50）. These findings suggest that maternal UCP2 3＇ UTR gene polymorphism, pregnancy time, consumption of germinated potatoes and body mass index are associated with an increased risk for neural tube defects in children from mothers living in Shanxi province, China. Moreover, there is an apparent gene-environment interaction involved in the development of neural tube defects in offspring.展开更多
Leukemia inhibitory factor receptor(LIFR),as a neuroregulatory cytokine receptor,generally shows a neuroprotective effect in central nervous system injuries.In this study,to understand the effect of LIFR on pathogenes...Leukemia inhibitory factor receptor(LIFR),as a neuroregulatory cytokine receptor,generally shows a neuroprotective effect in central nervous system injuries.In this study,to understand the effect of LIFR on pathogenesis of neural tube defects,we explored spatiotemporal expression of LIFR at different stages of fetal development in normal and neural tube defect embryos.Spina bifida aperta was induced with all-trans retinoic acid on embryonic day 10 in rats,and the spatiotemporal expression of LIFR was investigated in spina bifida aperta rats and healthy rats from embryonic day 11 to 17.Real time-polymerase chain reaction and western blot assay were used to examine mRNA and protein expression of LIFR in healthy control and neural tube defect embryos.Results of the animal experiment demonstrated that expression of LIFR protein and mRNA in the spinal cords of normal rat embryos increased with embryonic development.LIFR was significantly downregulated in the spinal cords of spina bifida aperta rats compared with healthy rats from embryonic days 11 to 17.Immunohistochemical staining showed that the expression of LIFR in placenta and spinal cord in spina bifida aperta rat embryos was decreased compared with that in control embryos at embryonic day 15.Results from human embryo specimens showed that LIFR mRNA expression was significantly down-regulated in spinal cords of human fetuses with neural tube defects compared with normal controls at a gestational age of 24 to 33 weeks.The results were consistent with the down-regulation of LIFR in the animal experiments.Our study revealed spatiotemporal changes in expression of LIFR during embryonic neurulation.Thus,LIFR might play a specific role in neural tube development.All animal and human experimental procedures were approved by the Medical Ethics Committee of Shengjing Hospital of China Medical University,China(approval No.2016PS106K)on February 25,2016.展开更多
Objective Our objective is to build a model that explains the association between the exposure to trace elements in the soil and the risk of neural tube defects. Methods We built a function with different parameters t...Objective Our objective is to build a model that explains the association between the exposure to trace elements in the soil and the risk of neural tube defects. Methods We built a function with different parameters to describe the effects of trace elements on neural tube defects. The association between neural tube defects and trace element levels was transformed into an optimization problem using the maximum likelihood method. Results Tin, lead, nickel, iron, copper, and aluminum had typical layered effects （dosage effects） on the prevalence of neural tube defects. Arsenic, selenium, zinc, strontium, and vanadium had no effect, and molybdenum had one threshold value that affected the prevalence of birth defects. Conclusion As an exploratory research work, our model can be used to determine the direction of the effect of the trace element content of cultivated soil on the risk of neural tube defects, which shows the clues by the dosage effect of their toxicological characteristics. Based on our findings, future biogeochemical research should focus on the direct effects of trace elements on human health.展开更多
In this paper, the extended finite element method (XFEM) is adopted to analyze the interaction between a single macroscopic inclusion and a single macroscopic crack as well as that between multiple macroscopic or micr...In this paper, the extended finite element method (XFEM) is adopted to analyze the interaction between a single macroscopic inclusion and a single macroscopic crack as well as that between multiple macroscopic or microscopic defects under thermal/mechanical load. The effects of different shapes of multiple inclusions on the material thermomechanical response are investigated, and the level set method is coupled with XFEM to analyze the interaction of multiple defects. Further, the discretized extended finite element approximations in relation to thermoelastic problems of multiple defects under displacement or temperature field are given. Also, the interfaces of cracks or materials are represented by level set functions, which allow the mesh assignment not to conform to crack or material interfaces. Moreover, stress intensity factors of cracks are obtained by the interaction integral method or the M-integral method, and the stress/strain/stiffness fields are simulated in the case of multiple cracks or multiple inclusions. Finally, some numerical examples are provided to demonstrate the accuracy of our proposed method.展开更多
Objective ：To study the gene mutations of homeobox transcription factor （CSX/NKX2.5） associated with a Chinese family with secundum atrial septal defect （ASD）. Methods ：Polymerase chain reaction and DNA sequenci...Objective ：To study the gene mutations of homeobox transcription factor （CSX/NKX2.5） associated with a Chinese family with secundum atrial septal defect （ASD）. Methods ：Polymerase chain reaction and DNA sequencing were used to check all the members in the family with ASD, and single strand conformation polymorphism analysis （SSCP） was used to check 126 normal control people for detecting the mutations of CSX/NKX2.5 gene. Results： Three mutations, G270A（Glu32Lys ）, G378A （Glu68Lys）andG390A （Glu72Lys）were identified in CSX/NKX2.5 gene of ASD patients. However, the other members in the family with ASD and the control did not have such gene mutations. Conclusion：These mutations of CSX/NKX2.5 gene, which were identified in a Chinese family, may be one of the secundum ASD etiologic causes .展开更多
Software defect prevention is an important way to reduce the defect introduction rate.As the primary cause of software defects,human error can be the key to understanding and preventing software defects.This paper pro...Software defect prevention is an important way to reduce the defect introduction rate.As the primary cause of software defects,human error can be the key to understanding and preventing software defects.This paper proposes a defect prevention approach based on human error mechanisms：DPe HE.The approach includes both knowledge and regulation training in human error prevention.Knowledge training provides programmers with explicit knowledge on why programmers commit errors,what kinds of errors tend to be committed under different circumstances,and how these errors can be prevented.Regulation training further helps programmers to promote the awareness and ability to prevent human errors through practice.The practice is facilitated by a problem solving checklist and a root cause identification checklist.This paper provides a systematic framework that integrates knowledge across disciplines,e.g.,cognitive science,software psychology and software engineering to defend against human errors in software development.Furthermore,we applied this approach in an international company at CMM Level 5 and a software development institution at CMM Level 1 in the Chinese Aviation Industry.The application cases show that the approach is feasible and effective in promoting developers＇ ability to prevent software defects,independent of process maturity levels.展开更多
Background Di George syndrome（DGS） is the most common microdeletion syndrome in humans and a disorder caused by a defect in chromosome 22. Almost 80% of DGS patients manifest congenital heart defects（CHD）, which a...Background Di George syndrome（DGS） is the most common microdeletion syndrome in humans and a disorder caused by a defect in chromosome 22. Almost 80% of DGS patients manifest congenital heart defects（CHD）, which are highly variable and severe. However, the genetics of CHD in DGS remain elusive. This review concludes that the TBX1 gene plays a critical role in cardiovascular defects, involving many additional genes, such as Six1, Eya1, Fgf8, Fox, and Shh. Concerning the variable manifestations of CHD in DGS,additional modifiers have been shown of involvement, such as Wnt, MOZ, micro RNAs, VEGF, and CRK.Knowledge of the genetics underlying CHD in DGS has the potential to early detection and treatment of this disease.展开更多
文摘Information was obtained from the same questionnaire (23 risk factors listed) of cases and controls. We used a multivariate logistic model, which described variables significantly increased risk of birth defects. The risk factors included maternal educational levels, medicine taken during pregnancy and antenatal care. It was suggested to strengthen antenatal care was the main preventive measure against birth defects.
基金supported by the National Natural Science Foundation of China,No.30872898,81371116the Natural Science Foundation of Beijing,No.7132173
文摘Microspheres containing nerve growth factor for sustained release were prepared by a compound method, and implanted into chitosan conduits to repair 10-mm defects on the right buccal branches of the facial nerve in rabbits. In addition, chitosan conduits combined with nerve growth factor or normal saline, as well as autologous nerve, were used as controls. At 90 days post-surgery, the muscular atrophy on the right upper lip was more evident in the nerve growth factor and normal sa- line groups than in the nerve growth factor-microspheres and autologous nerve groups. Electro- physiological analysis revealed that the nerve conduction velocity and amplitude were significantly higher in the nerve growth factor-microspheres and autologous nerve groups than in the nerve growth factor and normal saline groups. Moreover, histological observation illustrated that the di- ameter, number, alignment and myelin sheath thickness of myelinated nerves derived from rabbits were higher in the nerve growth factor-microspheres and autologous nerve groups than in the nerve growth factor and normal saline groups. These findings indicate that chitosan nerve conduits com- bined with microspheres for sustained release of nerve growth factor can significantly improve facial nerve defect repair in rabbits.
基金sponsored by the National Natural Science Foundation of China, No. 31140012, 31040056,31140079the Natural Science Foundation of Shanxi Province,No. 2006011113
文摘The present study involved a questionnaire survey of 156 mothers that gave birth to children with neural tube defects or had a history of pregnancy resulting in children with neural tube defects （case group） and 156 control mothers with concurrent healthy children （control group） as well as detection of mitochondrial membrane transporter protein gene [uncoupling protein 2 （UCP2）] polymorphism. The maternal UCP2 3＇ untranslated region （UTR） D/D genotype and D allele frequency were significantly higher in the case group compared with the control group （odds ratio （OR） 3.233; 95% confidence interval （C/） 1.103 9.476; P= 0.040; OR： 3.484; 95% CI： for neural tube defects 2.109 5.753; P 〈 0.001）. Univariate and multivariate logistic regression analysis of risk factors for neural tube defects showed that a matemal UCP2 3＇ UTR D/D genotype was negatively interacted with the mothers＇ consumption of frequent fresh fruit and vegetables （S = 0.007）, positively interacted with the mothers＇ frequency of germinated potato consumption （S = 2.15） and positively interacted with the mothers＇ body mass index （S = 3.50）. These findings suggest that maternal UCP2 3＇ UTR gene polymorphism, pregnancy time, consumption of germinated potatoes and body mass index are associated with an increased risk for neural tube defects in children from mothers living in Shanxi province, China. Moreover, there is an apparent gene-environment interaction involved in the development of neural tube defects in offspring.
基金supported by the National Natural Science Foundation of China,No.81601292(to DA),No.81671469(to ZWY)the National Basic Research Program of China(973 Program),No.2013CB945402(to ZWY)the National Key Research and Development Program of China,No.2016YFC1000505(to ZWY)
文摘Leukemia inhibitory factor receptor(LIFR),as a neuroregulatory cytokine receptor,generally shows a neuroprotective effect in central nervous system injuries.In this study,to understand the effect of LIFR on pathogenesis of neural tube defects,we explored spatiotemporal expression of LIFR at different stages of fetal development in normal and neural tube defect embryos.Spina bifida aperta was induced with all-trans retinoic acid on embryonic day 10 in rats,and the spatiotemporal expression of LIFR was investigated in spina bifida aperta rats and healthy rats from embryonic day 11 to 17.Real time-polymerase chain reaction and western blot assay were used to examine mRNA and protein expression of LIFR in healthy control and neural tube defect embryos.Results of the animal experiment demonstrated that expression of LIFR protein and mRNA in the spinal cords of normal rat embryos increased with embryonic development.LIFR was significantly downregulated in the spinal cords of spina bifida aperta rats compared with healthy rats from embryonic days 11 to 17.Immunohistochemical staining showed that the expression of LIFR in placenta and spinal cord in spina bifida aperta rat embryos was decreased compared with that in control embryos at embryonic day 15.Results from human embryo specimens showed that LIFR mRNA expression was significantly down-regulated in spinal cords of human fetuses with neural tube defects compared with normal controls at a gestational age of 24 to 33 weeks.The results were consistent with the down-regulation of LIFR in the animal experiments.Our study revealed spatiotemporal changes in expression of LIFR during embryonic neurulation.Thus,LIFR might play a specific role in neural tube development.All animal and human experimental procedures were approved by the Medical Ethics Committee of Shengjing Hospital of China Medical University,China(approval No.2016PS106K)on February 25,2016.
基金supported by the National "973" project on Population and Health (No. 2007CB5119001)the National Yang‐Zi Scholar Program, 211 and 985 projects of Peking University (No. 20020903)
文摘Objective Our objective is to build a model that explains the association between the exposure to trace elements in the soil and the risk of neural tube defects. Methods We built a function with different parameters to describe the effects of trace elements on neural tube defects. The association between neural tube defects and trace element levels was transformed into an optimization problem using the maximum likelihood method. Results Tin, lead, nickel, iron, copper, and aluminum had typical layered effects （dosage effects） on the prevalence of neural tube defects. Arsenic, selenium, zinc, strontium, and vanadium had no effect, and molybdenum had one threshold value that affected the prevalence of birth defects. Conclusion As an exploratory research work, our model can be used to determine the direction of the effect of the trace element content of cultivated soil on the risk of neural tube defects, which shows the clues by the dosage effect of their toxicological characteristics. Based on our findings, future biogeochemical research should focus on the direct effects of trace elements on human health.
基金supported by the National Natural Science Foundation of China (Grants 11471262, 50976003, 51136005)
文摘In this paper, the extended finite element method (XFEM) is adopted to analyze the interaction between a single macroscopic inclusion and a single macroscopic crack as well as that between multiple macroscopic or microscopic defects under thermal/mechanical load. The effects of different shapes of multiple inclusions on the material thermomechanical response are investigated, and the level set method is coupled with XFEM to analyze the interaction of multiple defects. Further, the discretized extended finite element approximations in relation to thermoelastic problems of multiple defects under displacement or temperature field are given. Also, the interfaces of cracks or materials are represented by level set functions, which allow the mesh assignment not to conform to crack or material interfaces. Moreover, stress intensity factors of cracks are obtained by the interaction integral method or the M-integral method, and the stress/strain/stiffness fields are simulated in the case of multiple cracks or multiple inclusions. Finally, some numerical examples are provided to demonstrate the accuracy of our proposed method.
文摘Objective ：To study the gene mutations of homeobox transcription factor （CSX/NKX2.5） associated with a Chinese family with secundum atrial septal defect （ASD）. Methods ：Polymerase chain reaction and DNA sequencing were used to check all the members in the family with ASD, and single strand conformation polymorphism analysis （SSCP） was used to check 126 normal control people for detecting the mutations of CSX/NKX2.5 gene. Results： Three mutations, G270A（Glu32Lys ）, G378A （Glu68Lys）andG390A （Glu72Lys）were identified in CSX/NKX2.5 gene of ASD patients. However, the other members in the family with ASD and the control did not have such gene mutations. Conclusion：These mutations of CSX/NKX2.5 gene, which were identified in a Chinese family, may be one of the secundum ASD etiologic causes .
文摘Software defect prevention is an important way to reduce the defect introduction rate.As the primary cause of software defects,human error can be the key to understanding and preventing software defects.This paper proposes a defect prevention approach based on human error mechanisms：DPe HE.The approach includes both knowledge and regulation training in human error prevention.Knowledge training provides programmers with explicit knowledge on why programmers commit errors,what kinds of errors tend to be committed under different circumstances,and how these errors can be prevented.Regulation training further helps programmers to promote the awareness and ability to prevent human errors through practice.The practice is facilitated by a problem solving checklist and a root cause identification checklist.This paper provides a systematic framework that integrates knowledge across disciplines,e.g.,cognitive science,software psychology and software engineering to defend against human errors in software development.Furthermore,we applied this approach in an international company at CMM Level 5 and a software development institution at CMM Level 1 in the Chinese Aviation Industry.The application cases show that the approach is feasible and effective in promoting developers＇ ability to prevent software defects,independent of process maturity levels.
基金supported by the Major International(Regional)Joint Research Project of Ministry of Science and Technology of China(No.2010DFA32260/No.2008DFA31140)National Natural Science Foundation of China(No.81370230)+2 种基金Technology Foundation for Selected Overseas Chinese Scholar of Ministry of Human Resources and Social Security of China(Ping Zhu)Key Technologies Research and Development Program of China(No.2011BAI11B22)Guangdong Province Natural Science Fund(No.S2013010014009)
文摘Background Di George syndrome（DGS） is the most common microdeletion syndrome in humans and a disorder caused by a defect in chromosome 22. Almost 80% of DGS patients manifest congenital heart defects（CHD）, which are highly variable and severe. However, the genetics of CHD in DGS remain elusive. This review concludes that the TBX1 gene plays a critical role in cardiovascular defects, involving many additional genes, such as Six1, Eya1, Fgf8, Fox, and Shh. Concerning the variable manifestations of CHD in DGS,additional modifiers have been shown of involvement, such as Wnt, MOZ, micro RNAs, VEGF, and CRK.Knowledge of the genetics underlying CHD in DGS has the potential to early detection and treatment of this disease.
