Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective Maintain a sable differential pressure inside the Underwater Positive Pressure Protective Suit(UPPPS)to ensure normal breathing and safe underwater operations for the diver.Methods Utilize a pressure regulator as the UPPPS's pressure control valve to automatically maintain the differential pressure inside the suit.Results By establishing a physical model,the relationship between the steady-state differential pressure with the ventilation flow rate and the ambient pressure was obtained.(1)The ventilation flow rate is positively correlated with the steady-state differential pressure,the higher the ventilation flow rate,the greater the steady-state differential pressure.(2)At the same ventilation flow rate,the larger the ambient pressure is,the smaller the steady-state differential pressure is.Underwater unmanned and manned experiments using the UWT suit were conducted.The expermental results are in agreement with the theoretical analysis.Conclusion The performance of pressure regulator has been verified by the underwater experiments,it effectively stabilizes the differential pressure within the UPPPS.

Objective To explore the methods of continuing education for advanced endoscope operations by diges-tive specialists through the establishment and teaching effect evaluation of the ERCP(endoscope retrograde cholan-giopancreatography)introductory training mode.Methods A total of 26 trainees from 3 sessions of the ERCP intro-ductory training courses at Peking Union Medical College Hospital from September 2023 to September 2024 were in-cluded.The teaching effects of the training courses and its 5 modules were subjectively and objectively evaluated by questionnaires,on-site tests and evaluations by senior ERCP operators.Results Through the ERCP introductory training courses,the trainees'self-evaluated proficiency in duodenoscope structure(pre-training:2.4±2.4,post-training:8.2±1.5,P＜0.001),duodenoscope operation(pre-training:1.2±2.2,post-training:6.6±1.8,P＜0.001),papillary cannulation(pre-training:0.5±1.3,post-training:5.4±1.8,P＜0.001),intra-bile duct operation(pre-training:0.2±0.6,post-training:4.9±2.1,P＜0.001),and identification of intra-bile duct lesions(pre-training:1.7±2.1,post-training:6.0±2.0,P＜0.001)was significantly improved.The accuracy rate of the trainees'theoretical tests and picture recognition before training was 37.2％and then increased up to 62.8％after training.Before training,all trainees were considered by senior operators as not ready to start ERCP training on real patients,while after training,69.2％(18/26)of the trainees were considered ready to start ERCP training on real patients.Conclusions The multi-module ERCP introductory training courses have a significant effect in terms of laying a foundation for trainees to start ERCP training on patients and of providing a reference for the con-tinuing education mode of advanced endoscope operations for digestive specialists in China.

Objective To explore the influencing factors of self injury or suicide in adolescent patients with depression.Methods A total of 96 adolescents who were diagnosed with depressive disorder at Yunnan Psychiatirc Hospital and Kunming Psychiatirc Hospital from January 2023 to May 2024 were selected for the study.The case group consisted of 61 adolescents who had self-injury or suicidal behaviors within 30 days,while the control group consisted of 35 adolescents who had no self-injury or suicidal behaviors within at least 30 days.Assessments were performed using the Patient Health Questionnaire-9(PHQ-9),Millon Screening Inventory for Borderline Personality Disorder(MSI-BPD),House-Tree-Person Drawing Test(HTP),and the Columbia Suicide Severity Rating Scale(C-SSRS).Among these,72 subjects underwent skin pressure pain threshold testing using the Algometer HP-50,with 12 in the self-harm or suicide group within 2 days and 60 in the group beyond 2 days.Results(1)Analysis of gender and age between the two groups showed statistically significant differences(P<0.05),with a higher proportion of females and younger ages in the 30-day group;(2)The PHQ-9 score for the 30-day group was(19.59±5.99),with a score of(2.41±0.97)for item 9("Thoughts that it would be better to be dead or to hurt oneself in some way"),and an MSI-BPD score of(7.43±1.61).The scores for the group over 30 days were(10.89±7.99),(1.00±1.11)for item 9,and(5.40±3.13)for MSI-BPD.Independent samples t-test analysis showed significant differences(P<0.01);(3)In the 30-day group,five drawing characteristics from the 47 HTP characteristics(shift of center of gravity,hair not disheveled or no hair,no mountains,no sun,and no flowers or grass)were found to occur at a higher rate,with statistical significance(P<0.05);(4)In the binary logistic regression analysis of 96 patients with the 30-day suicide or self-injury behavior as the dependent variable,the absence of flowers and PHQ-9 question 9 score are the risk factors for adolescent depression patients to have self-injury or suicide behavior within 30 days(OR no flowers=7.934,OR score on PHQ-9 question 9=3.554).(5)Among the 72 subjects the skin pressure pain threshold for adolescents who exhibited self-injure or suicide behaviors within 2 days(8.83±4.27 N)was significantly higher than that for patients beyond 2 days(6.48±3.00 N),with statistical significance(t=-2.201,P<0.05).Additionally,the score for item 9 of the PHQ-9 was higher(2.50±0.67 vs 1.87±0.95),also showing statistical significance(t=-2.201,P<0.05).Conclusion The absence of flowers or grass in HTP painting,and stronger suicidal ideation or suicide attempt are risk factors for self-injury or suicidal behavior in adolescents with depression.Furthermore,those who self-injure or commit suicide within 2 days have a higher pain threshold compared to those beyond 2 days.

Background and Aims:Abdominal aortic aneurysm(AAA)is a common arterial dilation disease in vascular surgery,with aneurysm rupture being its most serious complication,often leading to fatal hemorrhage and posing a severe threat to patients'lives.Endovascular aneurysm repair(EVAR),due to its minimally invasive nature,safety,and rapid recovery,has become the preferred treatment for AAA.However,endoleak,a complication unique to EVAR,remains a major clinical challenge.Persistent endoleak can lead to sustained high pressure within the aneurysm sac,increasing the risk of continued expansion and rupture.It is one of the main causes of the high reintervention rate following EVAR.In particular,the treatment strategy for type Ⅱ endoleaks remains controversial.This study was conducted to evaluate the clinical value of selective sac embolization via the iliac approach combined with standard EVAR in managing intraoperative immediate endoleaks.Methods:The clinical data of AAA patients with a risk of endoleak who underwent standard EVAR at the First Hospital of China Medical University between March 2023 and September 2024 were retrospectively collected.Patients were divided into an intervention group(n=42)and a non-intervention group(n=32)based on whether selective sac embolization via the iliac approach was performed during operation.General clinical data,preoperative anatomical characteristics of the AAA,surgical details,and postoperative follow-up results were compared between the two groups.Results:There were no statistically significant differences between the two groups in terms of age,sex,anatomical features,rupture rate,or off-label use(all P>0.05).The technical success rate during surgery was 100%in both groups.One patient in the intervention group experienced transient sigmoid colon ischemia after operation,which resolved with conservative treatment.The mean follow-up period was(6.49±4.68)months.The proportions of aneurysm sac shrinkage,stability,and enlargement in the intervention group were 40.5%,57.1%,and 2.4%,respectively,compared to 59.4%,40.6%,and 0.0%in the non-intervention group,with no statistically significant differences(all P>0.05).The incidence of endoleak during follow-up was also comparable between the two groups(P>0.05).Conclusion:For intraoperative endoleaks during standard EVAR,selective sac embolization via the iliac approach is a technically simple and safe method that provides short-term outcomes comparable to those in patients without intraoperative endoleaks.Its long-term efficacy warrants further investigation through extended follow-up.

Objective:To investigate the efficacy and safety of intravesical injections of botulinum toxin A (BTX-A) for the treatment of pediatric refractory urinary frequency and incontinence (UFI), and to analyze the factors predicting the therapeutic effect of BTX-A injections.Methods:A retrospective case series study was made on 35 children with UFI [(12.3±4.2) years old], including 13 males (37.1%) and 22 females (62.9%), treated in the First Affiliated Hospital of Zhengzhou University from January 2021 to March 2024.Urotherapy and drug treatments were ineffective in all children, who then received intravesical injections of BTX-A.The urodynamic study (UDS) was performed 1 week before treatment and 3 months after treatment, and the Overactive Bladder Symptom Score (OABSS) and Incontinence Quality of Life (I-QOL) were collected.Perioperative and postoperative adverse events were also recorded.A global response assessment (GRA) score of ≥2 at 3 months postoperatively was defined as effective treatment.According to the postoperative GRA score, the patients were divided into effective and ineffective groups to explore the predictive factors affecting the outcome of BTX-A treatment, such as age, gender, preoperative urodynamic parameters, and the types of urinary incontinence. t-test was used to compare quantitative data such as age, UDS parameters, OABSS, and I-QOL scores.The comparison of count data such as gender and urinary incontinence types was conducted using Fisher′s exact test. Results:The bladder compliance, bladder capacity ratio, OABSS and I-QOL scores of patients significantly improved after BTX-A injection (all P<0.05).The 77.1% (27/35) of the patients were satisfied with BTX-A treatment effects.The main adverse event during the follow-up was a temporary increase in postvoid residual urine after injecting BTX-A (7 cases), which was alleviated by the Creade action or clean intermittent catheterization.There was significant difference in age [(13.00±4.32) years vs.(10.00±2.67) years] and preoperative bladder compliance [(11.21±5.74) mL/cmH 2O vs.(5.13±2.42) mL/cmH 2O] between effective (27 cases) and ineffective groups (8 cases) ( t=2.383, 2.899, all P<0.05).The differences in preoperative bladder capacity ratio, maximum filling detrusor pressure, postvoid residual urine, voiding efficiency, gender, and the types of urinary incontinence were not statistically significant between the two groups (all P>0.05). Conclusions:Intravesical injection of BTX-A is a safe and effective treatment for children with refractory UFI.A young age and poor bladder compliance at treatment are associated with poor prognosis of BTX-A treatment.

Objective:To elucidate the molecular mechanisms through which high-dose dexamethasone exerts long-term effects on bone marrow mesenchymal stem cells (BMSCs), specifically its role in suppressing osteogenic differentiation, accelerating cellular senescence, triggering the senescence-associated secretory phenotype (SASP), and inducing apoptosis.Methods:Primary rat BMSCs were isolated and treated with high-dose dexamethasone (1×10 -4 mol/L) to establish the experimental group, while untreated cells served as the control. The gene and protein expression levels of osteogenic markers, bone alkaline phosphatase (bALP) and Runt-related transcription factor 2 (Runx2), were analyzed in both groups. Cellular senescence was evaluated using senescence-associated β-galactosidase (SA-β-gal) staining. The expression of senescence-related markers (P16 and P21), components of the senescence-associated secretory phenotype (SASP), including tumor necrosis factor (TNF)-α, interleukin (IL)-1β, and interferon (IFN)-γ, as well as apoptosis-related proteins (Bcl-2, Bax, and Cleaved-Caspase-3), and key factors of the Nrf2/HO-1 signaling pathway were assessed at both transcriptional and protein levels using qRT-PCR, immunofluorescence, and Western-blot analyses. These comprehensive evaluations aimed to determine the senescent state, apoptotic features, and alterations in osteogenic differentiation of BMSCs. Results:Following treatment with dexamethasone and subsequent withdrawal, both qRT-PCR and Western blot analyses indicated a significant reduction in the expression of the osteogenic markers bALP and Runx2 at both mRNA and protein levels. The proportion of SA-β-gal positive cells was markedly higher in the dexamethasone group (74.33%±6.89%) than in the control group (20.30%±1.57%, t=17.300, P<0.001). qRT-PCR analysis revealed upregulated mRNA expression of the senescence-related genes P16 and P21 after dexamethasone treatment, which was further supported at the protein level by immunofluorescence showing increased P21 expression. Western-blot results confirmed that protein expression levels of P16 and P21 were significantly elevated in the dexamethasone group (7.025±0.255 and 6.362±0.456, respectively) compared with the control group (1.016±0.115 and 0.816±0.172; both P<0.05). Furthermore, gene expression levels of the senescence-associated secretory phenotype (SASP) factors TNF-α and IL-1β were significantly increased (TNF-α: 3.539±0.599 vs. 0.742±0.095; IL-1β: 4.469±0.331 vs. 0.799±0.175; both P<0.05), and their protein expression was consistently upregulated as validated by Western-blot. Additionally, protein expression levels of TNF-α, IL-1β, and IFN-γ were significantly higher in the dexamethasone-treated group (3.476±0.932 vs. 0.945±0.095; 4.111±0.220 vs. 0.762±0.105; 2.155±0.240 vs. 0.656±0.104; all P<0.05).Western-blot analysis also demonstrated that protein expression of Nrf2 and HO-1 was significantly suppressed in the dexamethasone group (0.21±0.07 and 0.19±0.06, respectively) compared with the control group (1.13±0.15 and 0.92±0.21; P<0.05). Moreover, Western-blot analysis revealed that the expression levels of the pro-apoptotic proteins Bax and Cleaved-Caspase-3 were significantly up, regulated in the dexamethasone, treated BMSCs (Bax: 3.673±0.397 vs. 0.453±0.111; Cleaved-Caspase-3: 3.863±0.399 vs. 0.465±0.057), while the expression of the anti-apoptotic protein Bcl-2 was markedly down, regulated (0.959±0.073 vs. 2.126±0.195), with all differences being statistically significant ( P<0.05). Conclusions:High-dose dexamethasone treatment of BMSCs, followed by withdrawal of dexamethasone, induces cellular senescence and enhances the expression of the senescence-associated secretory phenotype (SASP) through suppression of the Nrf2/HO-1 signaling pathway. Concurrently, it promotes apoptosis by activating the mitochondrial apoptotic pathway, collectively leading to impaired osteogenic differentiation of BMSCs.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective To explore the potential of CS-AI technique in accelerating cranial three-dimensional double inversion recovery(3D DIR)sequence imaging.Methods Twenty-six healthy volunteers were prospectively recruited for brain sagittal 3D DIR sequence scanning.The 3D DIR sequences were accelerated with four different acceleration factor(AF)(4,6,8,10)and reconstructed using the traditional compressed sensing(CS)algorithm and a new CS-AI algorithm.Subjective image quality was assessed by two observers using a 5-point Likert scale.Objective image quality was evaluated by calculating contrast(CN)and contrast-to-noise ratio(CNR).Firstly,using CS 4 as the standard,the optimal CS AF was derived after comparing the CN,CNR and subjective scores of CS 4 with those of CS 6,8 and 10 images in a comprehensive judgement,and then further comparing the optimal CS AF with images of CS-AI with different AF to validate the efficacy of the CS-AI,and to select the final optimal CS-AI AF.Results The comparison results between CS 4 and different CS AF indicated that CS 6 was selected as the optimal AF for CS.In further comparisons between CS and different CS-AI AF,the CS-AI technique outperformed the CS technique overall.CS-AI 8 was the maximum applicable AF.Conclusion The CS-AI is overall even better in terms of image quality with higher acceleration potential than the CS.The CS-AI 8 serves as the optimal AF and reduces scanning times by up to 50％while maintaining image quality.

Objective To evaluate the efficacy and safety of Mirabegron combined with transcutaneous tibial nerve stimulation (TTNS) in the treatment of drug-refractory overactive bladder (OAB), so as to alleviate patients'symptoms, improve their quality of life with optimized treatment plan, and provide reference for clinical practice. Methods A retrospective analysis was conducted on 56 patients with drug-refractory OAB treated at the Department of Urology of Gansu Provincial Hospital during Jan.2023 and Dec.2024. Based on the treatment methods, the patients were divided into two groups:the TTNS group and the combined treatment group, with 28 patients in either group. The daytime urination frequency, nocturia frequency, urgency episodes, urinary incontinence, functional bladder capacity (FBC), OAB symptom scores (OABSS), and incontinence quality of life questionnaire (I-QoL) scores were collected before and after treatment. The therapeutic efficacy was evaluated using the Nimodipine method. Results After 12 weeks of treatment, the 24-hour urination indicators in both groups including daytime urination frequency, nocturia frequency, urgency episodes and FBC, as well as OABSS and I-QoL scores, showed a significant improvement compared to baseline (P<0.001). The combined treatment group exhibited fewer urgency episodes than the TTNS group [ (1.07±0.66) times/24 h vs. (1.64±0.62) times/24 h, P<0.05]. However, no statistically significant differences were observed between the two groups in other urinary parameters (P>0.05). The total effective rate in the combined treatment group was 96.43%, which was significantly higher than that in the TTNS group (82.14%, P<0.05). During treatment, one patient (3.57%) in the TTNS group experienced mild skin allergy, which recovered following symptomatic management. Conclusion The combination of TTNS and Mirabegron in drug-refractory OAB not only alleviates clinical symptoms and improves quality of life, but also shows superior efficacy in reducing urgency episodes. This approach is a safe and effective treatment option.