BACKGROUND Postoperative delirium,particularly prevalent in elderly patients after abdominal cancer surgery,presents significant challenges in clinical management.AIM To develop a synthetic minority oversampling techn...BACKGROUND Postoperative delirium,particularly prevalent in elderly patients after abdominal cancer surgery,presents significant challenges in clinical management.AIM To develop a synthetic minority oversampling technique(SMOTE)-based model for predicting postoperative delirium in elderly abdominal cancer patients.METHODS In this retrospective cohort study,we analyzed data from 611 elderly patients who underwent abdominal malignant tumor surgery at our hospital between September 2020 and October 2022.The incidence of postoperative delirium was recorded for 7 d post-surgery.Patients were divided into delirium and non-delirium groups based on the occurrence of postoperative delirium or not.A multivariate logistic regression model was used to identify risk factors and develop a predictive model for postoperative delirium.The SMOTE technique was applied to enhance the model by oversampling the delirium cases.The model’s predictive accuracy was then validated.RESULTS In our study involving 611 elderly patients with abdominal malignant tumors,multivariate logistic regression analysis identified significant risk factors for postoperative delirium.These included the Charlson comorbidity index,American Society of Anesthesiologists classification,history of cerebrovascular disease,surgical duration,perioperative blood transfusion,and postoperative pain score.The incidence rate of postoperative delirium in our study was 22.91%.The original predictive model(P1)exhibited an area under the receiver operating characteristic curve of 0.862.In comparison,the SMOTE-based logistic early warning model(P2),which utilized the SMOTE oversampling algorithm,showed a slightly lower but comparable area under the curve of 0.856,suggesting no significant difference in performance between the two predictive approaches.CONCLUSION This study confirms that the SMOTE-enhanced predictive model for postoperative delirium in elderly abdominal tumor patients shows performance equivalent to that of traditional methods,effectively addressing data imbalance.展开更多
Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on ...Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.展开更多
As a specific type of asthenoteratozoospermia,multiple morphological abnormalities of the sperm flagella(MMAF)is characterized by composite abnormalities,including absent,short,coiled,angulation,and irregular-caliber ...As a specific type of asthenoteratozoospermia,multiple morphological abnormalities of the sperm flagella(MMAF)is characterized by composite abnormalities,including absent,short,coiled,angulation,and irregular-caliber flagella.Mutations in cilia-and flagella-associated protein 43(CFAP43)are one of the main causative factors of MMAF established to date.To identify whether there are other CFAP43 mutations related to MMAF and to determine the clinical outcomes of assisted reproductive technology for patients with MMAF harboring different mutations,we recruited and screened 30 MMAF-affected Chinese men using a 22-gene next-generation sequencing panel.After systematic analysis,seven mutations in CFAP43,including five novel mutations and two previously reported mutations,were identified from four families and related to MMAF in an autosomal recessive pattern.Papanicolaou staining,immunofluorescence,and electronic microscopy further clarified the semen characteristics a nd abnormal sperm morphologies,including disorganized axonemal and peri-axonemal structures,of the CFAP43-deficient men.The female partners of two patients were pregnant after undergoing assisted reproductive technology through intracytoplasmic sperm injection,and one of them successfully gave birth to a healthy boy.This study significantly expands the mutant spectrum of CFAP43,and together with the available information regarding male infertility and MMAF,provides new information for the genetic diagnosis and counseling of MMAF in the future.展开更多
基金Supported by Discipline Advancement Program of Shanghai Fourth People’s Hospital,No.SY-XKZT-2020-2013.
文摘BACKGROUND Postoperative delirium,particularly prevalent in elderly patients after abdominal cancer surgery,presents significant challenges in clinical management.AIM To develop a synthetic minority oversampling technique(SMOTE)-based model for predicting postoperative delirium in elderly abdominal cancer patients.METHODS In this retrospective cohort study,we analyzed data from 611 elderly patients who underwent abdominal malignant tumor surgery at our hospital between September 2020 and October 2022.The incidence of postoperative delirium was recorded for 7 d post-surgery.Patients were divided into delirium and non-delirium groups based on the occurrence of postoperative delirium or not.A multivariate logistic regression model was used to identify risk factors and develop a predictive model for postoperative delirium.The SMOTE technique was applied to enhance the model by oversampling the delirium cases.The model’s predictive accuracy was then validated.RESULTS In our study involving 611 elderly patients with abdominal malignant tumors,multivariate logistic regression analysis identified significant risk factors for postoperative delirium.These included the Charlson comorbidity index,American Society of Anesthesiologists classification,history of cerebrovascular disease,surgical duration,perioperative blood transfusion,and postoperative pain score.The incidence rate of postoperative delirium in our study was 22.91%.The original predictive model(P1)exhibited an area under the receiver operating characteristic curve of 0.862.In comparison,the SMOTE-based logistic early warning model(P2),which utilized the SMOTE oversampling algorithm,showed a slightly lower but comparable area under the curve of 0.856,suggesting no significant difference in performance between the two predictive approaches.CONCLUSION This study confirms that the SMOTE-enhanced predictive model for postoperative delirium in elderly abdominal tumor patients shows performance equivalent to that of traditional methods,effectively addressing data imbalance.
文摘Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on electrooculogram.The potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and photoreceptor.In this study,the complete clinical characteristics of two Chinese ARB families were summarized.Methods:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family members.Results:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB families.The novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of bestrophin-1.Another novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional regulators.Conclusion:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes.The novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.
基金the Natural Science Foundation of Chongqing(CSTC2021JCYJ-MSXMX0722)Chongqing Health Center for Women and Children(2020YJMS01).
文摘As a specific type of asthenoteratozoospermia,multiple morphological abnormalities of the sperm flagella(MMAF)is characterized by composite abnormalities,including absent,short,coiled,angulation,and irregular-caliber flagella.Mutations in cilia-and flagella-associated protein 43(CFAP43)are one of the main causative factors of MMAF established to date.To identify whether there are other CFAP43 mutations related to MMAF and to determine the clinical outcomes of assisted reproductive technology for patients with MMAF harboring different mutations,we recruited and screened 30 MMAF-affected Chinese men using a 22-gene next-generation sequencing panel.After systematic analysis,seven mutations in CFAP43,including five novel mutations and two previously reported mutations,were identified from four families and related to MMAF in an autosomal recessive pattern.Papanicolaou staining,immunofluorescence,and electronic microscopy further clarified the semen characteristics a nd abnormal sperm morphologies,including disorganized axonemal and peri-axonemal structures,of the CFAP43-deficient men.The female partners of two patients were pregnant after undergoing assisted reproductive technology through intracytoplasmic sperm injection,and one of them successfully gave birth to a healthy boy.This study significantly expands the mutant spectrum of CFAP43,and together with the available information regarding male infertility and MMAF,provides new information for the genetic diagnosis and counseling of MMAF in the future.
