Objective: To explore the association between the HLA antibody positivity rate in female blood donors and pregnancy history, number of pregnancies, interval from the last pregnancy to blood donation, and age, to identify associated variables using a univariate generalized additive model (GAM), and to further analyze the predictive role of characteristic variables for HLA antibody positivity using a random forest model. Methods: HLA antibody detection was performed on 391 female blood donors using the Luminex immunomagnetic bead method. The correlation between pregnancy-related factors and HLA antibodies was analyzed using the Chi-square test. Based on R software, a univariate GAM was first constructed to analyze the association types between characteristic variables and the HLA antibody positivity rate, followed by the construction of a random forest model to evaluate the predictive value of the variables. Results: Among the 391 female blood donors without a transfusion history, the overall HLA antibody positivity rate was 26.34%. The positivity rate in donors with a pregnancy history was significantly higher than that in those without (30.09% vs 9.72%, P<0.05), and HLA antibody positivity rate increased linearly with the number of pregnancies (P<0.05). In the univariate GAM, age and number of deliveries exhibited a non-linear association with the HLA antibody positivity rate (the positivity rate increased sharply between 25-35 years of age and stabilized after 3 deliveries). Besides, the interval from the last pregnancy to blood donation showed a linear association with the HLA antibody positivity rate, and the positivity rate decreased as the interval prolonged (P<0.05). In the random forest model, age (mean decrease gini=29.26) and interval from the last pregnancy to blood donation (mean decrease gini=22.02) were core predictive variables: age was more conducive to identifying positive samples, while the interval from the last pregnancy to blood donation was more helpful for excluding negative samples. The number of deliveries (mean decrease accuracy=16.98) made a significant contribution to predicting positive samples, whereas the number of abortions had no impact. The model had an AUC of 0.583 (95% CI: 0.593 8-0.770 2), indicating a certain predictive value. Conclusion: The associated variables identified by the univariate GAM model, including age, interval from the last pregnancy to blood donation, and number of deliveries, provide a basis for key variables in the random forest model. All three variables have predictive value for HLA antibody positivity, which can provide evidence-based support for personalized transfusion management and stratified screening of female blood donors in this region.

OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

OBJECTIVES: To evaluate the value of ⁶⁸Ga-DOTATATE and ¹⁸F-FDG PET/CT imaging in staging and treatment decision for gastroenteropancreatic neuroendocrine neoplasms (GEP-NEN). METHODS: This retrospective analysis was conducted in 49 patients with GEP-NEN undergoing ¹⁸F-FDG and ⁶⁸Ga-DOTATATE PET/CT imaging at our hospital from August, 2020 to March, 2023, including 34 newly diagnosed patients and 15 patients with recurrence or metastasis after treatment. GEP-NEN were classified into G1, G2, and G3 neuroendocrine tumors (NET) and neuroendocrine carcinomas (NEC) based on pathological typing. The detection efficiency were classified into 4 patterns based on the number of positive tumor lesions detected by the two tracers: ⁶⁸Ga-DOTATATE>¹⁸F-FDG (A); ⁶⁸Ga-DOTATATE=¹⁸F-FDG (B); ⁶⁸Ga-DOTATATE<¹⁸F-FDG (C); and complementation (D). The value of dual-modality imaging in staging and treatment decision were evaluated by visual analysis. RESULTS: In the 49 patients with GEP-NEN, ⁶⁸Ga-DOTATATE PET/CT was superior to ¹⁸F-FDG PET/CT for detecting systemic tumor lesions (P<0.001) and more sensitive for detecting primary/recurrent lesions, lymph node metastasis, liver metastasis, and bone metastasis (P<0.05), while ¹⁸F-FDG PET/CT had higher detection rates for lung metastasis and peritoneal metastasis (P<0.05). In terms of the detection efficiency, Pattern A was found in 46.9% (23/49) patients, Pattern B in 38.8% (19/49), Pattern C in 12.2% (6/49), and Pattern D in 2.0% (1/49). The complementary value of ¹⁸F-FDG PET/CT to ⁶⁸Ga-DOTATATE PET/CT was 0% in G1 NET patients (0/13), 8.3% in G2 NET patients (2/24), 50% in G3 NET patients (3/6), and 33.3% in NEC patients (2/6). 12.2% (6/49) of the patients had their staging confirmed or changed due to additional lesions detected by ¹⁸F-FDG PET/CT imaging, resulting subsequently in establishment or adjustment of their treatment plans. CONCLUSIONS ⁶⁸Ga-DOTATATE PET/CT imaging should be the primary choice for GEP-NEN patients. Additional ¹⁸F-FDG PET/CT imaging can potentially improve precision of staging and treatment decision-making for G2, G3 and NEC patients but provides virtually no clinical benefits for G1 NET patients.
Humans ; Positron Emission Tomography Computed Tomography/methods* ; Neuroendocrine Tumors/therapy* ; Pancreatic Neoplasms/therapy* ; Retrospective Studies ; Organometallic Compounds ; Stomach Neoplasms/therapy* ; Neoplasm Staging ; Fluorodeoxyglucose F18 ; Intestinal Neoplasms/therapy* ; Female ; Male ; Middle Aged ; Aged ; Adult

Objective To explore the therapeutic effect and influencing factors of individualized exercise under continuous glucose profile in patients with typ 2 diabetes mellitus(T2DM).Methods A total of 110 patients with T2DM who were treated in the Department of Endocrinology of our hospital from December 2021 to July 2022 were randomly divided into conventional group and personalized group,with 55 cases in each group.The conventional group was given routine health exercise guidance,the personalized group was given a personalized exercise program.Repeated measurement analysis of variance was used to evaluate the improvement of blood glucose related indicators in the two groups at 3 and 6 months after intervention.Logistic regression was used to analyze the influencing factors of blood glucose(BG)control after 6 months of intervention.Results After 3 and 6 months of intervention,FBG,2 hBG,hemoglobin A1c(HbA1c),mean blood glucose(MBG)and time above target range(TAR)in the personalized group and conventional group were all lower than those before intervention(P<0.05).Time in range(TIR)of glucose within 24 h was higher than that before intervention(P<0.05).After 3 and 6 months of intervention,FBG,2 hBG,HbA1c,MBG and TAR in the personalized group were lower than those in the conventional group at the same time point(P<0.05),and TIR was higher than that in the conventional group at the same time point(P<0.05).After 6 months of intervention,the BG control rate in the personalized group was higher than that in the conventional group(P<0.05).Logistic regression analysis showed that the DM duration,exercise intervention methods and TIR were the influencing factors of BG control.Conclusions Exercise guidance is an effective intervention method to control diabetes.Compared with conventional exercise guidance,personalized exercise program has a better effect on controlling patients'BG level,and has a better effect on patients with short course of disease.

Objective To establish the genetic typing detection technique of matrix-assisted laser de-sorption ionization-time or flight mass spectrometry(MALDI-TOF MS),and to apply it to investigate the polymorphism of the human platelet antigen(HPA)-29-35w low-frequency gene in blood donor population from Guangxi area.Methods The RS number of 7 target gene mutation sites in dbSNP and 21 primers were designed by using Assay Design Suite(ADS)of MassARRAY platform online primer design tool.Seven over-expression vectors inserting into HPA-29-35bb mutant sequence were constructed.Twenty-nine blood donors were randomly selected among the blood donors team in Guangxi area.The samples and vectors conducted the iPLEX Pro multiple genotyping analysis and mass spectrometric detection.Meanwhile,the above samples were sequenced and the sequencing results conducted the comparison validation with the mass spectrometric detec-tion results,then the MALDI-TOF MS genotyping detection technology was established.Then adopting this technology conducted the platelet antigen HPA-29-35W genotyping detection and polymorphism analysis in the samples from 588 blood donors in Guangxi area.Results The MALDI-TOF MS HPA genotyping detec-tion results were consistent with the sequencing results.The HPA-29-35w genotyping results showed that theHPA-29-35w genotype of 588 blood donors in Guangxi area was aa homozygote.Conclusion The genotype detection method of MALDI-TOF MS for HPA-29-35w is successfully established and applied to the screening of HPA-29-35w gene among the blood donor population in Guangxi area.

Objective To evaluate the value of 68Ga-DOTATATE and 18F-FDG PET/CT imaging in staging and treatment decision for gastroenteropancreatic neuroendocrine neoplasms(GEP-NEN).Methods This retrospective analysis was conducted in 49 patients with GEP-NEN undergoing 18F-FDG and 68Ga-DOTATATE PET/CT imaging at our hospital from August,2020 to March,2023,including 34 newly diagnosed patients and 15 patients with recurrence or metastasis after treatment.GEP-NEN were classified into G1,G2,and G3 neuroendocrine tumors(NET)and neuroendocrine carcinomas(NEC)based on pathological typing.The detection efficiency were classified into 4 patterns based on the number of positive tumor lesions detected by the two tracers:68Ga-DOTATATE>18F-FDG(A);68Ga-DOTATATE=18F-FDG(B);68Ga-DOTATATE<18F-FDG(C);and complementation(D).The value of dual-modality imaging in staging and treatment decision were evaluated by visual analysis.Results In the 49 patients with GEP-NEN,68Ga-DOTATATE PET/CT was superior to 18F-FDG PET/CT for detecting systemic tumor lesions(P<0.001)and more sensitive for detecting primary/recurrent lesions,lymph node metastasis,liver metastasis,and bone metastasis(P<0.05),while 18F-FDG PET/CT had higher detection rates for lung metastasis and peritoneal metastasis(P<0.05).In terms of the detection efficiency,Pattern A was found in 46.9%(23/49)patients,Pattern B in 38.8%(19/49),Pattern C in 12.2%(6/49),and Pattern D in 2.0%(1/49).The complementary value of 18F-FDG PET/CT to 68Ga-DOTATATE PET/CT was 0%in G1 NET patients(0/13),8.3%in G2 NET patients(2/24),50%in G3 NET patients(3/6),and 33.3%in NEC patients(2/6).12.2%(6/49)of the patients had their staging confirmed or changed due to additional lesions detected by 18F-FDG PET/CT imaging,resulting subsequently in establishment or adjustment of their treatment plans.Conclusion 68Ga-DOTATATE PET/CT imaging should be the primary choice for GEP-NEN patients.Additional 18F-FDG PET/CT imaging can potentially improve precision of staging and treatment decision-making for G2,G3 and NEC patients but provides virtually no clinical benefits for G1 NET patients.

Objective To explore the impact of gender factors in participant selection during bioequivalence studies,and to provide insights for improving the screening success rate in subsequent trials.Methods A retrospective study was con-ducted to summarize the screening information of healthy subjects in the bioequivalence study conducted in the Phase Ⅰ Clinical Trial Laboratory of the Affiliated Hospital of Xiangnan University from July 2021 to July 2023.The number of failed screening ca-ses in different stages of screening for each project was counted,and the influence of gender factors on subject screening was ana-lyzed.Results A total of 32 bioequivalence studies involving 2 794 subjects,including 1 816 males and 978 females,were in-cluded in the study.The proportion of males was higher in vital signs and BMI abnormalities,and the proportion of females was higher in ECG abnormalities and active withdrawal,and the pass rate was lower in males than in females(40.0％ vs.45.8％),and the existence of the two was statistically significant(P＜0.05).The results of PC A showed that the distribution of data in males was more dispersed,and the distribution of data in females was centralized,and the two could be clearly differentiated.Binary lo-gistic regression analysis showed significant differences between males and females in laboratory test screening failures and BMI(P＜0.05).Further analysis showed that the screening failure rates of blood biochemistry,urine routine,coagulation function and blood transfusion were higher in males than in females,but the screening failure rates of blood routine were lower than those of fe-males.Conclusions Gender is an important influencing factor in the screening process of bioequivalence studies.Including subjects with appropriate gender ratios can help improve enrollment speed and reduce clinical trial costs.

Objective To explore the therapeutic effect and influencing factors of individualized exercise under continuous glucose profile in patients with typ 2 diabetes mellitus(T2DM).Methods A total of 110 patients with T2DM who were treated in the Department of Endocrinology of our hospital from December 2021 to July 2022 were randomly divided into conventional group and personalized group,with 55 cases in each group.The conventional group was given routine health exercise guidance,the personalized group was given a personalized exercise program.Repeated measurement analysis of variance was used to evaluate the improvement of blood glucose related indicators in the two groups at 3 and 6 months after intervention.Logistic regression was used to analyze the influencing factors of blood glucose(BG)control after 6 months of intervention.Results After 3 and 6 months of intervention,FBG,2 hBG,hemoglobin A1c(HbA1c),mean blood glucose(MBG)and time above target range(TAR)in the personalized group and conventional group were all lower than those before intervention(P<0.05).Time in range(TIR)of glucose within 24 h was higher than that before intervention(P<0.05).After 3 and 6 months of intervention,FBG,2 hBG,HbA1c,MBG and TAR in the personalized group were lower than those in the conventional group at the same time point(P<0.05),and TIR was higher than that in the conventional group at the same time point(P<0.05).After 6 months of intervention,the BG control rate in the personalized group was higher than that in the conventional group(P<0.05).Logistic regression analysis showed that the DM duration,exercise intervention methods and TIR were the influencing factors of BG control.Conclusions Exercise guidance is an effective intervention method to control diabetes.Compared with conventional exercise guidance,personalized exercise program has a better effect on controlling patients'BG level,and has a better effect on patients with short course of disease.

Objective To explore the impact of gender factors in participant selection during bioequivalence studies,and to provide insights for improving the screening success rate in subsequent trials.Methods A retrospective study was con-ducted to summarize the screening information of healthy subjects in the bioequivalence study conducted in the Phase Ⅰ Clinical Trial Laboratory of the Affiliated Hospital of Xiangnan University from July 2021 to July 2023.The number of failed screening ca-ses in different stages of screening for each project was counted,and the influence of gender factors on subject screening was ana-lyzed.Results A total of 32 bioequivalence studies involving 2 794 subjects,including 1 816 males and 978 females,were in-cluded in the study.The proportion of males was higher in vital signs and BMI abnormalities,and the proportion of females was higher in ECG abnormalities and active withdrawal,and the pass rate was lower in males than in females(40.0％ vs.45.8％),and the existence of the two was statistically significant(P＜0.05).The results of PC A showed that the distribution of data in males was more dispersed,and the distribution of data in females was centralized,and the two could be clearly differentiated.Binary lo-gistic regression analysis showed significant differences between males and females in laboratory test screening failures and BMI(P＜0.05).Further analysis showed that the screening failure rates of blood biochemistry,urine routine,coagulation function and blood transfusion were higher in males than in females,but the screening failure rates of blood routine were lower than those of fe-males.Conclusions Gender is an important influencing factor in the screening process of bioequivalence studies.Including subjects with appropriate gender ratios can help improve enrollment speed and reduce clinical trial costs.

Background Mobile phone addiction has attracted widespread attention in society,and psychological abuse and neglect is an important factor in predicting mobile phone addiction,whereas limited research has been done to evaluate its impact on mobile phone addiction.Objective To explore the correlation of psychological abuse and neglect with mobile phone addiction,and to test the pathway of self-esteem and interpersonal alienation,so as to provide references for preventing and curbing mobile phone addiction in junior high school students.Methods In May 2022,a cluster sampling was utilized to select 800 students in two middle schools in a county of Hainan Province,and all students were assessed using Child Psychological Abuse and Neglect Scale(CPANS),Mobile Phone Addiction Index(MPAI),Rosenberg Self-esteem Scale(SES)and Interpersonal Alienation Scale of Adolescent StudentsAlienation Scale.Pearson correlation analysis was adopted to determine the correlation among the above-mentioned scales,and Process Macro 3.5 for SPSS was used to test the mediation effect.Results CPANS score was negatively correlated with SES score(r=-0.278,P<0.01),and positively correlated with Interpersonal Alienation Scale score and MPAI score(r=0.471,0.372,P<0.01).SES score was negatively correlated with Interpersonal Alienation Scale score and MPAI score(r=-0.438,-0.196,P<0.01).Interpersonal Alienation Scale score was positively correlated with MPAI score(r=0.392,P<0.01).Interpersonal alienation(indirect effect value was 0.104)played a mediation role in the relationship between psychological abuse and neglect and mobile phone addiction.Self-esteem and interpersonal alienation exhibited a chained mediation effect on the relationship between psychological abuse and neglect and mobile phone addiction(indirect effect value was 0.026),accounting for 6.99%of the total effect.Conclusion Psychological abuse and neglect can not only directly predict mobile phone addiction,but also can indirectly affect mobile phone addiction through separate mediation of interpersonal alienation or chained mediation of self-esteem and interpersonal alienation.