Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Microplastics(MPs)and nanoplastics(NPs)have become hazardous materials due to the massive amount of plastic waste and disposable masks,but their specific health effects remain uncertain.In this study,fluorescence-labeled polystyrene NPs(PS-NPs)were injected into the circulatory systems of mice to determine the distribution and potential toxic effects of NPs in vivo.Interestingly,whole-body imaging found that PS-NPs accumulated in the testes of mice.Therefore,the toxic effects of PS-NPs on the reproduction systems and the spermatocytes cell line of male mice,and their mechanisms,were investigated.After oral exposure to PS-NPs,their spermatogenesis was affected and the spermatogenic cells were damaged.The spermatocyte cell line GC-2 was exposed to PS-NPs and analyzed using RNA sequencing(RNA-seq)to determine the toxic mechanisms;a ferroptosis pathway was found after PS-NP exposure.The phenomena and indicators of ferroptosis were then determined and verified by ferroptosis inhibitor ferrostatin-1(Fer-1),and it was also found that nuclear factor erythroid 2-related factor 2(Nrf2)played an important role in spermatogenic cell ferroptosis induced by PS-NPs.Finally,it was confirmed in vivo that this mechanism of Nrf2 played a protective role in PS-NPs-induced male reproductive toxicity.This study demonstrated that PS-NPs induce male reproductive dysfunction in mice by causing spermatogenic cell ferroptosis dependent on Nrf2.

OBJECTIVE To investigate the efficacy and safety of domestic Paliperidone extended-release tablets as a substitute for original Paliperidone extended-release tablets in the treatment of stable schizophrenia. METHODS A total of 65 patients with schizophrenia， who were treated with single original Paliperidone extended-release release tablets for 2 months or more in the outpatient or inpatient department of Shandong Daizhuang Hospital from June 2021 to June 2022， were collected and randomly divided into the domestic group （33 cases） and the original group （32 cases）. The domestic group was treated with the same dose of domestic Paliperidone extended-release tablets instead for 2 months， and the original group continued to use the previous dose of the original drug for 2 months. Positive and negative syndrome scale （PANSS） and treatment emergent symptom scale （TESS） were used to evaluate the two groups at the time of enrollment and the end of 1 week， 1 month and 2 months after enrollment. The incidence of ADR was calculated at the end of 2 months after enrollment. The fasting blood glucose， blood lipid indicators （triglyceride， total cholesterol， low-density lipoprotein， high-density lipoprotein， very-low-density lipoprotein）， serum prolactin levels， and paliperidone blood concentration were determined after the intravenous blood sample was collected. The ratio of paliperidone blood concentration to dose （C/D value） was calculated， and an electrocardiogram was performed. RESULTS There were 31 and 30 patients in the domestic group and the original group who completed the trial， respectively. There were no statistical significances in PANSS score， TESS score or C/D value at the time of enrollment and the end of 1 week， 1 month and 2 months after enrollment； there were no statistical significances in the levels of fasting blood glucose， blood lipid or serum prolactin at the time of enrollment and at the end of 2 months after enrollment （P＞0.05）. PANSS scores of both groups significantly decreased at the end of 1 month and 2 months after enrollment （P＜0.01）. The incidences of ADR were 25.81% in the domestic group and 30.00% in the original group， without significant difference （P＞0.05）， and there were no significant abnormalities in the electrocardiograms of the two groups. CONCLUSIONS Domestic Paliperidone extended-release tablets can directly replace the original tablets in the treatment of stable schizophrenia， and their clinical efficacy and safety are comparable.

Objective:To investigate whether adjuvant skin-marker positioning can decrease the set-up errors in overweight patients with thoracic and abdominal tumors.Methods:A total of 60 overweight patients with thoracic and abdominal tumors treated with radiotherapy in the First Affiliated of Fujian Medical University between January 2018 and December 2018 were randomly divided into two groups. In group A, conventional skin-marker positioning was adopted. In group B, conventional skin-marker positioning combined with adjuvant skin-marker position was employed. All patients were immobilized with thermoplastic positioning body membrane with head-body plate fixation. The set-up errors in the right-left, head-foot and dorsoventral directions were obtained from cone-beam CT (CBCT) scan system before radiation delivery. The set-up errors were statistically compared between two groups by using t-test. Results:In group A, the set-up errors in the right-left, head-foot and dorsoventral directions were (4.47±2.91) mm, (5.43±2.61) mm and (3.87±2.40) mm, significantly higher compared with (2.97±1.68) mm, (3.21±1.62) mm and (2.59±1.57) mm, respectively (all P<0.001). Conclusion:Adjuvant skin-marker positioning method can reduce the set-up errors and enhance the positioning repeatability in overweight patients with thoracic and abdominal tumors receiving radiotherapy.

Objective To investigate the influence of Joint Commission International (JCI) accreditation on nursing practice.Methods Totally 30 medical institutions which had passed the JCI accreditation were investigated to compare the scores of nursing practice before and after JCI accreditation.Results Before JCI accreditation,the average standardized score of governance,leadership and management dimension was 81.20,but the scores of other dimensions were below 80.After the JCI accreditation,the quality improvement and patient safety(QPS) dimension scored 81.10,and scores of other dimensions were all above 90.The differences of all dimensions were statistically significant (P＜0.001) before and after the JCI accreditation,the scores were all much greater than those before the accreditation,and improvement of AOP(77.37％)and IPSG(69.86％)was most obvious with statistical significance (P＜0.001).Conclusion JCI accreditation plays a certain role in promoting nursing practice,making nursing process more systematic and comprehensive and the safety of nursing guaranteed.

Objective To investigate the relationship between lipoprotein[a] (Lp[a]) level and risk of onset of spontaneous subarachnoid hemorrhage (SSAH).Methods Thirty-four patients with SSAH,admitted to our hospital from November 2014 to December 2015,were chosen as patient group,and another 40 healthy volunteers were collected as control group.Morning fasting venous blood was collected,and levels of plasma Lp (a),total cholesterol (TC),glycerol triester (TG),high-density lipoprotein cholesterol (HDL-C),low-density lipoprotein cholesterol (LDL-C),apolipoprotein AI (ApoAI) and apolipoprotein B (ApoB) were detected.Pearson correlation analysis was used to analyze the correlations of Lp (a) with various lipid components.Results As compared with control group (84.28±57.96 mg/L),patient group had significantly higher Lp(a) level ([170.50±144.58] mg/L,P＜0.05);TC,HDL-C,LDL-C,ApoAI and ApoB levels showed no significant differences between the two groups (P＞0.05).Pearson correlation analysis indicated that Lp(a) level did not correlate to TC,HDL-C,LDL-C,ApoAI and ApoB levels (P＞0.05).Conclusion Plasma Lp (a) level is a risk factor for the onset of SSAH.

Objective To explore the clinical value of transvaginal three-dimensional color Doppler ultrasound in assessing effects of Chinese herbal drugs on improving endometrial receptivity in patients with thin endometrium.Methods A total of 76 cases of patients diagnosed with thin endometrium in Jiangbei District Hospital of Traditional Chinese Medicine from June 2015 to October 2016 were selected and treated with Chinese herbal prescription for three months.The endometrial thickness,endometrial volume and blood flow indexes before and after treatment were measured by using transvaginal three-dimensional color Doppler ultrasound.Results After 3 months treatment,the endometrial thickness and endometrial volume were increased,and the pulse index (PI) and resistance index (RI) of endometrial blood flow were decreased,compared with those before treatment,there were statistically significant differences(P＜0.05).The results of three-dimensional color Doppler ultrasound indicates that after 3 months treatment the vascularization index (VI),flow index (FI) and vascularization flow index (VFI) were significantly higher than those before treatment,there were statistically significant differences (P＜0.05).Conclusion The Chinese herbal prescription could increase the thickness and volume of endometrium,augment blood supply,and improve endometrial receptivity significantly.Transvaginal color three-dimensional Doppler ultrasound is a convenient and objective method for evaluating clinical efficacy of Chinese herbal prescription in patients with thin endometrium,which has high practical value.