The construction of a training system for visiting physicians in the department of rare diseases in China is an important measure to improve the overall diagnosis and treatment capacity for rare diseases and address the critical challenge of insufficient knowledge and skills among clinicians in practice. This article systematically describes the visiting physician training system established by the Department of Rare Diseases at Peking Union Medical College Hospital. It summarizes the training objectives and positioning, design logic, and learning modules of the system, aiming to provide a reference for the construction of the specialized talent team for rare diseases in China.

Objective: To investigate the status of condom use and its influencing factors among men who have sex with men (MSM), so as to provide a basis for improving condom utilization rates and AIDS prevention and control in this population. Methods: From May to October 2024, a snowball sampling method was employed to recruit MSM in Songjiang District, Shanghai Municipality. Self-administered questionnaires were used to collect data on demographic characteristics, AIDS-related knowledge, sexual behaviors, pre-exposure prophylaxis (PrEP) and post-exposure prophylaxis (PEP), and condom use in the past six months. Multivariable logistic regression model was used to analyze the influencing factors for consistent condom use. Results: A total of 921 MSM were surveyed, with a median age of 29.00 (interquartile range, 9.00) years. Among them, 697 (75.68%) were aware of AIDS-related knowledge, 826 (89.69%) expressed willingness to use PrEP, and 835 (90.66%) were willing to use PEP. Additionally, 787 (85.45%) MSM reported their age at first homosexual intercourse as ≥18 years, while 519 (56.35%) reported consistent condom use in the past six months. Multivariable logistic regression analysis revealed that MSM who were aware of AIDS-related knowledge (OR=0.582, 95% CI: 0.423-0.801), willing to use PrEP (OR =0.611, 95% CI: 0.385-0.969), and whose age at first homosexual intercourse was <18 years (OR=0.480, 95% CI: 0.330-0.700) were less likely to consistent use condoms. Conclusion The proportion of consistent condom use among the MSM remains relatively low, which is primarily associated with AIDS-related knowledge, willingness to use PrEP, and the age at first homosexual intercourse.

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

BACKGROUND:Currently,there are many modeling methods for pelvic organ prolapse animal models,and the commonly used methods are vaginal balloon dilatation,oophorectomy and the combination of the two.There is no study comparing the three modeling methods in detail.OBJECTIVE:To construct and validate a rat animal model of pelvic organ prolapse using three different methods and to identify the advantages and disadvantages of various models.METHODS:Seventy-two 8-week SPF-grade female Sprague-Dawley rats were selected and randomly divided into four groups,namely,vaginal balloon dilatation group,ovariectomy group,ovariectomy combined with vaginal balloon dilatation group(the combined group),and the sham-operated group(no ovariectomy and no vaginal dilatation).The vaginal wall tissues of rats were collected at 4,8 and 12 weeks after the operation for hematoxylin-eosin staining,Masson staining,EVG staining and immunohistochemical staining of α-smooth muscle actin,Vimentin and matrix metalloproteinase 9 detection,and the pelvic floor muscle tissues were taken at 4,8 and 12 weeks after the operation for hematoxylin-eosin staining,Masson staining and EVG staining.RESULTS AND CONCLUSION:(1)Hematoxylin-eosi staining showed that there was no significant difference in the decrease of vaginal epithelial layer thickness in the vaginal balloon dilatation group compared with the sham-operated group,(P＞0.05),while the thickness of the vaginal epithelial layer was significantly reduced in the ovariectomy group and the ovariectomy combined with vaginal balloon dilation group(P＜0.001),and the reduction was more significant in the ovariectomy combined with vaginal balloon dilation group,remained stable at 8 weeks after surgery and lasted until 12 weeks.(2)The changes in the content of collagen fibers and elastic fibers in the vaginal wall stained by Masson and EVG staining were the same as the changes in the thickness of the vaginal epithelial layer stained by hematoxylin-eosin,and there were no changes in collagen fibers and elastic fibers in the pelvic floor muscle tissues of the treatment groups.(3)At 4,8 and 12 weeks after treatment,there was no significant difference in the expression levels of α-smooth muscle actin,Vimentin and matrix metalloproteinase 9 in the vaginal wall tissue of the balloon dilation group compared with the control group(P＞0.05),whereas the expression levels of α-smooth muscle actin and Vimentin were significantly decreased in the ovariectomy group and ovariectomy combined with vaginal balloon dilation group(P＜0.01)and the expression of matrix metalloproteinase 9 showed a significant increase(P＜0.01),with a more pronounced increase in the ovariectomy combined with vaginal balloon dilation group,and the increase reached a stable state at 8 weeks after surgery and could persist up to 12 weeks.To conclude,vaginal balloon dilatation could not maintain the degeneration of pelvic organ prolapse formed by the vaginal wall for a long period,and both ovariectomy and the combined method can be used.Ovariectomy combined with vaginal balloon dilatation can significantly accelerate and aggravate the formation of typical histological features of pelvic organ prolapse in vaginal wall tissues,effectively shorten the experimental period,and improve the efficiency.These effects reach a stable state at 8 weeks after surgery and can be sustained up to 12 weeks,which is practical and convenient for the study of pelvic organ prolapse animal models.

BACKGROUND:Currently,there are many modeling methods for pelvic organ prolapse animal models,and the commonly used methods are vaginal balloon dilatation,oophorectomy and the combination of the two.There is no study comparing the three modeling methods in detail.OBJECTIVE:To construct and validate a rat animal model of pelvic organ prolapse using three different methods and to identify the advantages and disadvantages of various models.METHODS:Seventy-two 8-week SPF-grade female Sprague-Dawley rats were selected and randomly divided into four groups,namely,vaginal balloon dilatation group,ovariectomy group,ovariectomy combined with vaginal balloon dilatation group(the combined group),and the sham-operated group(no ovariectomy and no vaginal dilatation).The vaginal wall tissues of rats were collected at 4,8 and 12 weeks after the operation for hematoxylin-eosin staining,Masson staining,EVG staining and immunohistochemical staining of α-smooth muscle actin,Vimentin and matrix metalloproteinase 9 detection,and the pelvic floor muscle tissues were taken at 4,8 and 12 weeks after the operation for hematoxylin-eosin staining,Masson staining and EVG staining.RESULTS AND CONCLUSION:(1)Hematoxylin-eosi staining showed that there was no significant difference in the decrease of vaginal epithelial layer thickness in the vaginal balloon dilatation group compared with the sham-operated group,(P＞0.05),while the thickness of the vaginal epithelial layer was significantly reduced in the ovariectomy group and the ovariectomy combined with vaginal balloon dilation group(P＜0.001),and the reduction was more significant in the ovariectomy combined with vaginal balloon dilation group,remained stable at 8 weeks after surgery and lasted until 12 weeks.(2)The changes in the content of collagen fibers and elastic fibers in the vaginal wall stained by Masson and EVG staining were the same as the changes in the thickness of the vaginal epithelial layer stained by hematoxylin-eosin,and there were no changes in collagen fibers and elastic fibers in the pelvic floor muscle tissues of the treatment groups.(3)At 4,8 and 12 weeks after treatment,there was no significant difference in the expression levels of α-smooth muscle actin,Vimentin and matrix metalloproteinase 9 in the vaginal wall tissue of the balloon dilation group compared with the control group(P＞0.05),whereas the expression levels of α-smooth muscle actin and Vimentin were significantly decreased in the ovariectomy group and ovariectomy combined with vaginal balloon dilation group(P＜0.01)and the expression of matrix metalloproteinase 9 showed a significant increase(P＜0.01),with a more pronounced increase in the ovariectomy combined with vaginal balloon dilation group,and the increase reached a stable state at 8 weeks after surgery and could persist up to 12 weeks.To conclude,vaginal balloon dilatation could not maintain the degeneration of pelvic organ prolapse formed by the vaginal wall for a long period,and both ovariectomy and the combined method can be used.Ovariectomy combined with vaginal balloon dilatation can significantly accelerate and aggravate the formation of typical histological features of pelvic organ prolapse in vaginal wall tissues,effectively shorten the experimental period,and improve the efficiency.These effects reach a stable state at 8 weeks after surgery and can be sustained up to 12 weeks,which is practical and convenient for the study of pelvic organ prolapse animal models.

Objective: To establish a prediction model for high-risk cardiovascular disease (CVD) among residents aged 35 to 75 years, so as to provide the basis for improving CVD prevention and control measures. Methods: Permanent residents aged 35 to 75 years were selected from Dongcheng District, Beijing Municipality using the stratified random sampling method from 2018 to 2023. Demographic information, lifestyle, waist circumference and blood biochemical indicators were collected through questionnaire surveys, physical examinations and laboratory tests. Influencing factors for high-risk CVD among residents aged 35 to 75 years were identified using a multivariable logistic regression model, and a prediction model for high-risk CVD was established. The predictive effect was evaluated using the receiver operating characteristic (ROC) curve. Results: A total of 6 968 individuals were surveyed, including 2 821 males (40.49%) and 4 147 females (59.51%), and had a mean age of (59.92±9.33) years. There were 1 155 high-risk CVD population, with a detection rate of 16.58%. Multivariable logistic regression analysis showed that gender, age, smoking, central obesity, systolic blood pressure, fasting blood glucose, triglyceride and low-density lipoprotein cholesterol were influencing factors for high-risk CVD among residents aged 35 to 75 years (all P<0.05). The area under the ROC curve of the established prediction model was 0.849 (95%CI: 0.834-0.863), with a sensitivity of 0.693 and a specificity of 0.863, indicating good discrimination. Conclusion The model constructed by eight factors including demographic characteristics, lifestyle and blood biochemical indicators has good predictive value for high-risk CVD among residents aged 35 to 75 years.

Objective To analyze the impact of digital conversion of screen-film chest radiographs on image quality in patients with pneumoconiosis. Methods Ten high-kilovoltage screen-film chest radiographs from pneumoconiosis patients were digitally converted using three devices, including a digital single-lens reflex camera, a smartphone, and a medical film scanner. The image quality and optical density values before and after image adjustment were compared across different image formats. Results Before adjustment, among the 30 JPEG images, 24 had diagnostic defect areas and 26 had unqualified optical density values. In RAW format, optical density values were not qualified in 18 out of 30 images. In DICOM format, optical density values were not qualified in nine of ten images. After adjustment, optical density values were not qualified in 13 JPEG images, 12 RAW images, and one DICOM image. Comparisons of chest radiograph quality grade distributions before and after adjustment showed significant differences for all three image formats (all P<0.05). Conclusion After being digitally converted by taking images in RAW format with digital photographic equipment and undergoing post-processing adjustment, the quality of screen-film chest radiographs for pneumoconiosis can meet the diagnostic requirements.

Objective:To evaluate the therapeutic efficacy of combined therapy with a speaking valve and transcranial direct current stimulation (tDCS) for dysphagia in stroke patients post-tracheostomy.Methods:This retrospective case-control study enrolled 120 stroke patients with post-stroke tracheostomy-associated dysphagia, admitted to the Department of Rehabilitation Medicine at Huai′an Second People′s Hospital. Participants were randomly allocated to either a control group [45 males and 15 females, aged from 46 to 78 (65.78±8.68) years]receiving tDCS and conventional rehabilitation or an intervention group [41 males and 19 females, aged from 46 to 79 (66.32±9.18) years]receiving tDCS plus speaking valve therapy, with 60 patients per group. Swallowing function was assessed before and after a 3-week intervention using the Standardized Swallowing Assessment (SSA), Water Swallowing Test (WST) grading, Functional Oral Intake Scale (FOIS), and Swallowing-quality of life score (SWAL-QOL).The SPSS 22.0 was used for statistical analysis.Results:The intervention group demonstrated a significantly higher overall treatment response rate than the control group [95.0%(57/60) vs 78.3%(44/56), χ2=-6.056, P<0.001]. Post-treatment, the intervention group showed significantly greater improvements, as evidenced by a lower SSA score (21.50±1.82 vs 24.92±1.42, t=-11.480, P<0.001) and superior WST grades (observation group: 45 cases at grade 1, 12 cases at grade 2, 5 cases at grade 3; control group: 33 cases at grade 1, 11 cases at grade 2, 16 cases at grade 3, Z=5.484, P<0.001). Furthermore, the intervention group achieved significantly higher FOIS scores (observation group: 1 case at grade 1, 1 case at grade 2, 1 case at grade 4, 8 cases at grade 5, 7 cases at grade 6, 45 cases at grade 7; control group: 2 cases at grade 1, 7 cases at grade 2, 3 cases at grade 3, 4 cases at grade 4, 5 cases at grade 5, 6 cases at grade 6, 33 cases at grade 7, Z=-3.559, P<0.001) and greater improvements in SWAL-QOL scores ( P<0.001), indicating enhanced oral intake and quality of life. Conclusion:The combination of a speaking valve and tDCS effectively promotes the swallowing recovery and improves quality of life in stroke patients with post-tracheostomy dysphagia. This combined modality represents a promising and effective therapeutic strategy for this patient population.

Objective:To investigate the use of treatment measures in patients with severe postpartum hemor-rhage and massive blood transfusion.Methods:A retrospective analysis was conducted on the clinical data of parturients from 18 medical institutions who gave birth between January 2019 and June 2023,with postpartum hemorrhage≥ 1000 ml within 24 hours after delivery and red blood cell(RBC)transfusion≥4 U.According to the amount of RBC transfusion,the patients were divided into massive-transfusion(MT)group(≥ 10 U)and non-massive-transfusion(non-MT)group(4-＜10 U).The high-risk factors for postpartum hemorrhage,causes of hemorrhage,and medical and surgical treatment measures were compared between the two groups.Results:A total of 575 patients were included(134 cases in MT group and 441 cases in non-MT group).In the MT group,the proportions of multiparous women,gravidity≥2,preterm birth,previous cesarean section,placenta previa,and placenta accreta were significantly higher than those in the non-MT group,with statistically significant differences(P＜0.05).The primary cause of postpartum haemorrhage in the MT group was placental factors(58.2％),whereas uterine atony was the main cause in the non-MT group(52.2％).Analysis of medication treatment showed that carboprost tromethamine was the most frequently used secondary uterotonic in both groups(73.1％and 80.5％).Surgical management analysis revealed that the proportion of surgical interventions was higher in the MT group than that in the non-MT group.Among the 44 patients who underwent hysterectomy,33 cases un-derwent hysterectomy during cesarean section,with the primary cause of postpartum haemorrhage being placen-tal factors(29 cases,87.9％).Conclusion:Patients with severe postpartum haemorrhage requiring massive transfusion need extensive pharmacological and surgical interventions.It is crucial to reduce risk factors,particu-larly by decreasing the incidence of primary cesarean sections,optimize uterotonic use,and ultimately minimize the occurrence of severe postpartum haemorrhage and massive transfusion.

Objective:To explore the advantages of internet-based smart healthcare for full-cycle transcatheter edge-to-edge repair (TEER) management in reducing postoperative adverse events rate, improving cardiac function, and enhancing quality of life.Methods:This retrospective study enrolled patients with mitral regurgitation who underwent transcatheter TEER at Beijing Anzhen Hospital Valve Intervention Center between June 2021 and September 2023. Patients were classified into degeneration mitral regurgitation (DMR) and functional mitral regurgitation (FMR) according to etiology, with further stratification by enrollment period into usual care group (June 2021 to October 2022) and full-cycle management group (November 2022 to September 2023). The 1-year postoperative follow-up data were collected and compared between subgroups with the same etiology. Kaplan-Meier survival curves were plotted, and log-rank tests were used to compare the differences in major endpoint event-free survival rates between the two groups. Univariate and multivariate Cox regression and logistic regression analyses were performed to evaluate the impact of the full-cycle management system on patients′ outcomes.Results:A total of 130 patients were included, aged (72.0±8.6) years, including 82 (63%) males. DMR was identified in 84 cases (40 in the usual care group and 44 in the full-cycle management group), while FMR was observed in 46 cases (27 in the usual care group and 19 in the full-cycle management group). Kaplan-Meier analysis demonstrated higher 1-year major endpoint event-free survival rates in the full-cycle management group compared to the usual care group, though the difference was not statistically significant (log-rank P>0.05). Compared to the usual care group, the full-cycle management group showed significantly higher proportions of New York Heart Association classification Ⅰ-Ⅱ patients (DMR: 67% vs. 52%, P=0.031; FMR: 68% vs. 52%, P=0.021), greater 6-minute walking distances (DMR: (346.39±70.41) m vs. (294.11±60.47) m, P=0.012; FMR: (356.60±54.68) m vs. (318.55±39.02) m, P=0.004), and superior Kansas City Cardiomyopathy Questionnaire scores (DMR: 81.50 (74.50, 85.00) points vs. 71.00 (66.00, 82.25) points, P=0.014; FMR: 83.00 (76.00, 85.00) points vs. 74.00 (70.75, 80.00) points, P=0.030). Multivariate logistic regression confirmed the full-cycle management system as an independent predictor for the above improved outcomes (all P<0.05). Conclusion:Smart healthcare-based full-cycle management improves cardiac function and quality of life in mitral regurgitation patients after TEER, demonstrating lower rates of major endpoint events compared to usual care.