Background Accurate final height prediction for girls with menarche is important,yet traditional Greulich-Pyle(GP)and Bayley-Pinneau predictions based on left hand-wrist bone age(BA)and target height demonstrate limit...Background Accurate final height prediction for girls with menarche is important,yet traditional Greulich-Pyle(GP)and Bayley-Pinneau predictions based on left hand-wrist bone age(BA)and target height demonstrate limited accuracy.This study aims to develop a method to more accurately predict final height.Methods One hundred and seventy-three girls with menarche from August 2018 to June 2023 were analyzed retrospectively.BAs in Greulich and Pyle and Hoerr knee atlases were evaluated.Knee radiomic features were extracted using PyRadiomics;least absolute shrinkage and selection operator regression was utilized to develop radiomic scores of the distal femur and proximal tibia.Ordinary least squares regression with stepwise selection was used to build a multilinear equation.This was further compared with traditional methods in fivefold cross-validation(CV=5)using residual distribution and Bland-Altman agreement analysis.Results Height gain in our Chinese cohort after menarche was 8.94±2.99 cm.A stepwise multilinear equation was built with height at menarche,BA of GP and radiomic score of the distal femur(R^(2)=0.733,F statistic=115.1,P<0.05).Compared with traditional methods,a multilinear equation displayed the lowest residuals(residual range:-5.677 cm to+6.444 cm)and best Bland-Altman agreement(the mean difference:-0.01 cm,95%limits of agreement:-3.96 to+3.93 cm).Conclusions A robust linear regression model that incorporates knee radiomic scores,BA of GP,height at menarche,and father’s height demonstrated the best final height prediction in our cohort.This research is an innovative application of radiomic score of the distal femur to final height prediction.Further validation is warranted to test robustness across populations and scenarios.展开更多
Background Kabuki syndrome(KS),is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methylase(KMT2D)or an X-linked histone H3 lysine 27 demethylase(UTX/KDM6A).The characteristics in pat...Background Kabuki syndrome(KS),is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methylase(KMT2D)or an X-linked histone H3 lysine 27 demethylase(UTX/KDM6A).The characteristics in patients with KS have not yet been well recognized.Data sources We used databases including PubMed and Google Scholar to search for publications about the clinical features and the etiology of Kabuki syndrome.The most relevant articles to the scope of this review were chosen for analysis.Results Clinical diagnosis of KS is challenging in initial period,because many clinical characteristics become apparent only in subsequent years.Recently,the genetic and functional interaction between KS-associated genes and their products have been elucidated.New clinical findings were reported including nervous system and intellectual performance,endo-crine-related disorders and immune deficiency and autoimmune disease.Cancer risks of Kabuki syndrome was reviewed.Meanwhile,we discussed the Kabuki-like syndrome.Digital clinical genetic service,such as dysmorphology database can improve availability and provide high-quality diagnostic services.Given the significant clinical relevance of KS-associated genes and epigenetic modifications crosstalk,efforts in the research for new mechanisms are thus of maximum interest.Conclusions Kabuki syndrome has a strong clinical and biological heterogeneity.The main pathogenesis of Kabuki syndrome is the imbalance between switch-on and-off of the chromatin.The direction of drug research may be to regulate the normal opening of chromatin.Small molecule inhibitors of histone deacetylases maybe helpful in treatment of mental retardation and reduce cancer risk in KS.展开更多
基金supported by the Shanghai Oriental Talents Program-Youth Project(QNWS2024011)the Fundamental Research Funds for the Central Universities(YG2023QNA35).
文摘Background Accurate final height prediction for girls with menarche is important,yet traditional Greulich-Pyle(GP)and Bayley-Pinneau predictions based on left hand-wrist bone age(BA)and target height demonstrate limited accuracy.This study aims to develop a method to more accurately predict final height.Methods One hundred and seventy-three girls with menarche from August 2018 to June 2023 were analyzed retrospectively.BAs in Greulich and Pyle and Hoerr knee atlases were evaluated.Knee radiomic features were extracted using PyRadiomics;least absolute shrinkage and selection operator regression was utilized to develop radiomic scores of the distal femur and proximal tibia.Ordinary least squares regression with stepwise selection was used to build a multilinear equation.This was further compared with traditional methods in fivefold cross-validation(CV=5)using residual distribution and Bland-Altman agreement analysis.Results Height gain in our Chinese cohort after menarche was 8.94±2.99 cm.A stepwise multilinear equation was built with height at menarche,BA of GP and radiomic score of the distal femur(R^(2)=0.733,F statistic=115.1,P<0.05).Compared with traditional methods,a multilinear equation displayed the lowest residuals(residual range:-5.677 cm to+6.444 cm)and best Bland-Altman agreement(the mean difference:-0.01 cm,95%limits of agreement:-3.96 to+3.93 cm).Conclusions A robust linear regression model that incorporates knee radiomic scores,BA of GP,height at menarche,and father’s height demonstrated the best final height prediction in our cohort.This research is an innovative application of radiomic score of the distal femur to final height prediction.Further validation is warranted to test robustness across populations and scenarios.
基金the Clinical Research Promotion Project of Shanghai Jiao Tong University(no.JQ201810).
文摘Background Kabuki syndrome(KS),is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methylase(KMT2D)or an X-linked histone H3 lysine 27 demethylase(UTX/KDM6A).The characteristics in patients with KS have not yet been well recognized.Data sources We used databases including PubMed and Google Scholar to search for publications about the clinical features and the etiology of Kabuki syndrome.The most relevant articles to the scope of this review were chosen for analysis.Results Clinical diagnosis of KS is challenging in initial period,because many clinical characteristics become apparent only in subsequent years.Recently,the genetic and functional interaction between KS-associated genes and their products have been elucidated.New clinical findings were reported including nervous system and intellectual performance,endo-crine-related disorders and immune deficiency and autoimmune disease.Cancer risks of Kabuki syndrome was reviewed.Meanwhile,we discussed the Kabuki-like syndrome.Digital clinical genetic service,such as dysmorphology database can improve availability and provide high-quality diagnostic services.Given the significant clinical relevance of KS-associated genes and epigenetic modifications crosstalk,efforts in the research for new mechanisms are thus of maximum interest.Conclusions Kabuki syndrome has a strong clinical and biological heterogeneity.The main pathogenesis of Kabuki syndrome is the imbalance between switch-on and-off of the chromatin.The direction of drug research may be to regulate the normal opening of chromatin.Small molecule inhibitors of histone deacetylases maybe helpful in treatment of mental retardation and reduce cancer risk in KS.
