Dent disease is a rare X-linked recessively inherited renal tubulopathy,caused by variants in the CLCN5(Dent disease type 1,DD1)and OCRL(Dent disease type 2,DD2)genes,and characterized by low molecular weight proteinu...Dent disease is a rare X-linked recessively inherited renal tubulopathy,caused by variants in the CLCN5(Dent disease type 1,DD1)and OCRL(Dent disease type 2,DD2)genes,and characterized by low molecular weight proteinuria,hypercalciuria,microscopic hematuria,or nephrocalcinosis.In the current study,we collected and analyzed clinical data and genetic testing results of 21 children diagnosed with Dent disease,who were hospitalized at the Department of Nephrology,Children's Hospital of Nanjing Medical University between January 2014 and August 2023,aiming to assist in the early diagnosis and treatment of these patients.Among the 21 patients,16(76.19%)had CLCN5 variants,and five(23.81%)had OCRL variants,and four of the variants were novel.All patients presented with low molecular weight proteinuria,14(66.67%)of whom had nephroticrange proteinuria.Eight patients underwent renal biopsies because of diagnostic uncertainty.We transfected the novel CLCN5 missense variant(p.G222R)and OCRL missense variant(p.I371T)plasmids into both HEK293 and HK-2 cells and found a significantly lower expression of the OCRL1 protein in the transfected cells than in the wild-type cells(P<0.05).Moreover,we observed an extremely skewed X-chromosome inactivation pattern in a female patient carrying the same novel CLCN5 variant,as assessed by the human androgen receptor gene assay.These findings provide insight into the clinical characteristics of Dent disease in Chinese patients and may shed light on its pathogenesis.展开更多
Drop-weight impact tests were conducted on 2024-T3 aluminum plates with five types of impactors, and then the effects of the dent on the residual ultimate strength of the 2024-T3 specimens were investigated through ax...Drop-weight impact tests were conducted on 2024-T3 aluminum plates with five types of impactors, and then the effects of the dent on the residual ultimate strength of the 2024-T3 specimens were investigated through axial compression tests. Results indicate that with increase in dent depth, the five types of dents affect the ultimate strength of the plate in different trends. Nevertheless, other than the plate global deflection caused by impacting, the dent itself has unremarkable effect on the ultimate strength. The mathematical expressions are derived regarding the relationship between impact energy factor and the dent depth factor as well as the compressive ultimate strength reduction rate and the dent depth factor.展开更多
Dent,a common mechanical damage on pipelines,is associated with a significant local plastic deformation.Dents can cause pipeline failures,especially when they are combined with other types of defects such as gouges,fa...Dent,a common mechanical damage on pipelines,is associated with a significant local plastic deformation.Dents can cause pipeline failures,especially when they are combined with other types of defects such as gouges,fatigue,corrosion,and cracks.In this work,a systematic review of various assessment methods and standards for pipeline dents,including the combination of a dent with other defects,is conducted.Generally,the methods available today are not sufficiently accurate and reliable to assess pipeline dents,especially the dent-defect combinations.For plain dents on pipelines,both the depthbased criterion and the strain-based criterion are commonly used in engineering.Their main problems include inaccuracy and conservatism.For a dent combined with other defects,the existing assessment techniques are not mature enough to give reliable results.Both experimental testing and numerical modeling through finite element(FE)analysis are capable of investigating the influence of dents and dent-defect combinations on burst failure pressure of the pipelines,although an approximation to the reality is still the main difficulty existing in the experimental testing and FE analysis.Nowadays,relevant studies on assessment techniques for plain dents,a dent with fatigue and a dent with a single gouge have been common in literature.The combinations of a dent with corrosion or cracks have been rarely assessed due to complicated mechanisms involving a multi-physics coupling effect.Development of novel assessment methods by integrating mechanical stress and strain,electrochemical reactions and steel metallurgy will be a key topic to accurately assess the dent-defect combinations for improved pipeline integrity.展开更多
基金supported by the National Natural Science Foundation of China(Grant No.82200744)the Nanjing Science and Technology Development Funding(Grant No.YKK22159).
文摘Dent disease is a rare X-linked recessively inherited renal tubulopathy,caused by variants in the CLCN5(Dent disease type 1,DD1)and OCRL(Dent disease type 2,DD2)genes,and characterized by low molecular weight proteinuria,hypercalciuria,microscopic hematuria,or nephrocalcinosis.In the current study,we collected and analyzed clinical data and genetic testing results of 21 children diagnosed with Dent disease,who were hospitalized at the Department of Nephrology,Children's Hospital of Nanjing Medical University between January 2014 and August 2023,aiming to assist in the early diagnosis and treatment of these patients.Among the 21 patients,16(76.19%)had CLCN5 variants,and five(23.81%)had OCRL variants,and four of the variants were novel.All patients presented with low molecular weight proteinuria,14(66.67%)of whom had nephroticrange proteinuria.Eight patients underwent renal biopsies because of diagnostic uncertainty.We transfected the novel CLCN5 missense variant(p.G222R)and OCRL missense variant(p.I371T)plasmids into both HEK293 and HK-2 cells and found a significantly lower expression of the OCRL1 protein in the transfected cells than in the wild-type cells(P<0.05).Moreover,we observed an extremely skewed X-chromosome inactivation pattern in a female patient carrying the same novel CLCN5 variant,as assessed by the human androgen receptor gene assay.These findings provide insight into the clinical characteristics of Dent disease in Chinese patients and may shed light on its pathogenesis.
基金Projects(13R21421700,13R21421800)sponsored by Shanghai Postdoctoral Scientific Program,China
文摘Drop-weight impact tests were conducted on 2024-T3 aluminum plates with five types of impactors, and then the effects of the dent on the residual ultimate strength of the 2024-T3 specimens were investigated through axial compression tests. Results indicate that with increase in dent depth, the five types of dents affect the ultimate strength of the plate in different trends. Nevertheless, other than the plate global deflection caused by impacting, the dent itself has unremarkable effect on the ultimate strength. The mathematical expressions are derived regarding the relationship between impact energy factor and the dent depth factor as well as the compressive ultimate strength reduction rate and the dent depth factor.
基金supported by Natural Science and Engineering Research Council(NSERC),Canada
文摘Dent,a common mechanical damage on pipelines,is associated with a significant local plastic deformation.Dents can cause pipeline failures,especially when they are combined with other types of defects such as gouges,fatigue,corrosion,and cracks.In this work,a systematic review of various assessment methods and standards for pipeline dents,including the combination of a dent with other defects,is conducted.Generally,the methods available today are not sufficiently accurate and reliable to assess pipeline dents,especially the dent-defect combinations.For plain dents on pipelines,both the depthbased criterion and the strain-based criterion are commonly used in engineering.Their main problems include inaccuracy and conservatism.For a dent combined with other defects,the existing assessment techniques are not mature enough to give reliable results.Both experimental testing and numerical modeling through finite element(FE)analysis are capable of investigating the influence of dents and dent-defect combinations on burst failure pressure of the pipelines,although an approximation to the reality is still the main difficulty existing in the experimental testing and FE analysis.Nowadays,relevant studies on assessment techniques for plain dents,a dent with fatigue and a dent with a single gouge have been common in literature.The combinations of a dent with corrosion or cracks have been rarely assessed due to complicated mechanisms involving a multi-physics coupling effect.Development of novel assessment methods by integrating mechanical stress and strain,electrochemical reactions and steel metallurgy will be a key topic to accurately assess the dent-defect combinations for improved pipeline integrity.
