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

The study focuses on the concept of multifunctional traditional Chinese medicine (TCM) formulas and aims to evaluate the efficacy of the classical formula Xiaoyao San (逍遥散). Study employs the integrated evidence chain (Eff-iEC) method to organize, integrate, and evaluate its therapeutic efficacy in treating different diseases with the same therapy, and to investigate the feasibility of using Eff-iEC to evaluate the multifunctionality of TCM formulas. The evaluation covered Xiaoyao San's therapeutic effects on depression, premenstrual syndrome, chronic hepatitis, irritable bowel syndrome, dyspepsia, and menopausal syndrome. Concurrently, the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system was used for evaluation, and authoritative medical documents were incorporated to corroborate the recognition of Xiaoyao San within the medical community. Depression and menopausal syndrome received higher ratings than other conditions in the Eff-iEC, GRADE, and Medical Community Recognition assessments. The Eff-iEC evidence grade for Xiaoyao San was rated as "High" or above for chronic hepatitis, irritable bowel syndrome, dyspepsia, and menopausal syndrome. Premenstrual syndrome received a "Moderate ⁺" rating. The GRADE evidence level was "Low-〇〇⨁⨁" for depression, premenstrual syndrome, and chronic hepatitis; "Moderate-〇⨁⨁⨁" for dyspepsia and menopausal syndrome; and "Very Low-〇〇〇⨁" for irritable bowel syndrome. Depression and menopausal syndrome had the highest inclusion frequency, appearing in all 4 categories. Premenstrual syndrome, chronic hepatitis, and dyspepsia are not recommended in Western medical guidelines, but they are included in TCM guidelines, the China National Basic Medical Insurance Drug List, and the China National Essential Drug List. Irritable bowel syndrome appears only in the China National Basic Medical Insurance Drug List and China National Essential Drug List. The evaluation results obtained using the Eff-iEC method align with Medical Community Recognition, providing an objective and comprehensive assessment of Xiaoyao San's efficacy. The findings suggest that Xiaoyao San has strong evidence for treating depression and menopausal syndrome. However, further experimental and clinical trials are needed to assess its efficacy in treating premenstrual syndrome, chronic hepatitis, irritable bowel syndrome, and dyspepsia. These results support the clinical efficacy and rational use of Xiaoyao San, expand the application scope of the Eff-iEC method, and offer valuable insights and methodological references for the comparative evaluation of multifunctional TCM formulas.

Metabolic dysfunction-associated fatty liver disease （MAFLD） has become the most common chronic liver disease worldwide. Its pathological process is centered on the “two-hit” theory， with gut-liver axis dysregulation running through the entire disease course from steatosis to liver cirrhosis and even hepatocellular carcinoma， and it forms an extensive cross-system regulatory mechanism with the metabolic， cardiovascular， renal， and psychological and nervous systems through multi-dimensional pathways such as the “gut-liver-brain axis”， the “liver-kidney axis”， and the “liver-heart axis”. Disease progression is not limited to the liver itself， and it also involves functional imbalance of multiple organ systems throughout the body. This article systematically elaborates on the association mechanism of “liver pathological progression-multi-axis regulation-comorbidity occurrence” in MAFLD， proposes synergistic management strategies integrating early screening based on risk stratification， targeted intervention， and multidisciplinary diagnosis and treatment， and analyzes the limitations of current research and future development directions， in order to provide a theoretical basis and practical guidance for precise diagnosis and treatment and individualized management of MAFLD.

Objective The aim of the study is to analyze the incidence patterns and epidemiological characteristics of parasitic and vector-borne diseases in the Minhang and Jinshan districts of Shanghai, and provide evidence-based information for optimizing prevention and control measures. Methods We collected information from epidemic reports and epidemiological investigation forms for cases of parasitic and vector-borne diseases from 2005 to 2024 in Shanghai's Minhang and Jinshan districts. Descriptive epidemiological method were adopted to conduct a comparative analysis of incidence trends, epidemic characteristics, and infection sources. Results A total of 229 cases in 7 categories were reported between 2005 and 2024, with an average annual incidence rate of 0.36/100 000. The average annual incidence rate in Minhang District was significantly higher than that in Jinshan District. The most prevalent diseases were malaria and dengue fever, followed by Japanese encephalitis. Monthly case reports were available, predominantly from June to October, with a peak in July-August. A statistically significant difference was observed between the two districts in case distribution during June-October (P＜0.001), whereas no significant difference was found for July-August (P=0.331). The majority of cases were young men (111/229,48.47%), aged 20-39 years. Migrant workers/farmers constituted the largest occupational group (55/229, 24.02%). Registered residents of other provinces and cities (147/229,64.19%), and the main source of infection was overseas importation (112/229,48.91%). There were no statistically significant differences in gender and household-registration composition between the two districts (P＞0.05). Significant differences existed in age, occupation, and source of infection (P＜0.05). The imported diseases were malaria and dengue fever, with Africa and Southeast Asia being the primary source locations. Malaria was the predominant disease imported from other provinces and cities, with cases having been imported from abroad since 2012. Local infections were mainly Japanese encephalitis, followed by malaria (with the last local case reported in 2010). Cases between 2005 and 2009 were predominantly imported from other provinces and cities. The proportion of cases imported from abroad increased sharply after 2010, particularly in Minhang District. Local infections sometimes arise in Jinshan District, with Japanese encephalitis serving as the primary type. Conclusions Incidence rates of parasitic and vector-borne diseases in Minhang and Jinshan districts have generally remained low. To further reduce this disease burden, it will be necessary to strengthen joint measures for prevention and control, eliminate the environmental risk factors of vector organisms, enhance monitoring and precise control of the environment and inbound personnel to prevent the occurrence and transmission of parasitic and vector-borne diseases.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective:To evaluate the efficacy of digitally assisted design of surgical template for fibular composite tissue flap in reconstruction of segmental mandibular defect with soft tissue defect.Methods:A retrospective analysis was conducted on 30 patients who were treated at the Department of Otolaryngology Head and Neck Surgery, the 920th Hospital of the Joint Logistics Support Force of Chinese PLA from July 2020 to May 2024 for segmental mandibular defects combined with soft tissue defect. The cohort comprised 19 males and 11 females and aged 11-71 years (44.33 years±15.31 years). Pathological diagnoses of the patients were ameloblastoma (14 cases), squamous cell carcinoma (9 cases), osteomyelitis (4 cases), and odontogenic keratocyst (3 cases). Primary reconstructive surgery were performed on 21 patients after surgical resection of lesions, and 9 patients received secondary reconstructive surgery. The length of mandibular defect ranged from 75.83 mm to 111.45 mm (87.31 mm±12.00 mm), and soft tissue defects were measured at 5.0 cm×1.8 cm to 8.6 cm×2.1 cm (mean area 13.63 cm 2±2.42 cm 2). Preoperative CTA was performed to locate the perforator of peroneal artery and for design of digital surgical template. Intraoperatively, a modified fibula composite tissue flap harvesting technique was employed and that involved in: CTA-guided perforator planning, fibula osteotomy, anterior intermuscular septum exposure for identifying the peroneal artery, and a digital template-assisted fibula crafting for reconstruction of mandibule and soft tissue defect. Postoperative follow-ups were conducted at 1, 3, and 6 months, followed by quarterly reviews at outpatient clinic or via telephone interviews. Statistical analysis was performed using SPSS 27.0 software with descriptive statistical methods. Results:After surgery, all the fibula composite tissue flaps were viable and the incision wound healed well. Two patients had partial necroses at distal edge of the flaps, and they were healed after treatment. One patient had donor site infection and healed after anti-infective treatment. One month after the surgery, patients were assessed according to the recovery of face, mouth opening and occlusion, of which 25 patients (83.3%) were rated of Grade I, 4 (13.3%) of Grade Ⅱ, and 1 (3.4%) of Grade Ⅳ, with an excellent and good rates of 96.6%. The average distance of condylar movement on the affected side was 1.28 mm±0.35 mm. Postoperative follow-up lasted for 10 to 22 months, with 19.17 months±2.14 months in average. Assessment at the final follow-up was found that a total of 26 patients (86.8%) were of Grade I, 3 (10.0%) of Grade Ⅱ, and 1 (3.3%) of Grade Ⅳ and all the transferred fibula showed good alignment with the mandible over the postoperative follow-up period.Conclusion:Digital template-assisted design of fibular composite tissue flap enables a precise vascular protection, individualised osteotomy and functional restoration in reconstruction of segmental mandibular defect with soft tissue defect. It demonstrates a high clinical feasibility.

Objective Taking into account the physical and mental characteristics of patients with COPD,we develop and implement a lung rehabilitation education game software,aiming to explore more effective health education practices for COPD.Methods Drawing on the Health Belief Model theory,the game content was developed by semi-structured interviews,brainstorming sessions,and expert consultations,and it was implemented via a WeChat mini program.Patients with COPD from the respiratory department of a tertiary general hospital of Luzhou city between March and October 2023 were conveniently selected as the study subjects.Among them,40 patients from July to October 2023 were designated as an experimental group,and another 40 from March to June 2023 constituted a control group.The experimental group was provided with routine health education combined with pulmonary rehabilitation games,whereas the control group received standard health education.After the intervention,the researchers compared the COPD knowledge questionnaire scores and pulmonary rehabilitation adherence between the 2 groups,and assessed the satisfaction of both patients and nurses with the software.Results No sample detachment.The score of the COPD knowledge questionnaire in the experimental group was higher than that in the control group,and the difference was statistically significant(Z=5.361,P＜0.001).The proportion of patients in the experimental group with good adherence to pulmonary rehabilitation(85％)was significantly higher than it in the control group(25％),(x2=29.091,P＜0.001).The patients'overall satisfaction rate with the game was 95％,with operational effectiveness receiving the highest satisfaction rating at 97％.Conclusion The pulmonary rehabilitation education game for patients with COPD can improve their knowledge of COPD,enhance their compliance with pulmonary rehabilitation.Patients have high satisfaction with the software.The software enriches the clinical health education methods,which can be used in clinical practice.

Objective To explore the effect of visual deprivation training combined with proprioceptive training on balance function of hemiplegic patients after stroke.Methods A total of 80 stroke patients with hemiplegia in Jiangsu Shengze Hospital were selected from May,2022 to March,2024,and randomly divided into control group(n=20),proprioceptive training group(n=20),visual de-privation group(n=20)and combined group(n=20).All the groups received routine rehabilitation training,while the proprioceptive training group added proprioceptive training,the visual deprivation group added balance training under visual deprivation,and the combined group added visual deprivation training and proprioceptive training,for four weeks.They were assessed with ProKin Balance Test and Training System,Berg Balance Scale(BBS),10-metre walking test(10MWT),Fugl-Meyer Assessment-Lower Extremities(FMA-LE)and Functional Gait Assessment(FGA)before and after treatment.Results The intra-group effect(F>96.618,P<0.001)and interaction effect(F>5.444,P<0.01)were significant in mean longitudinal velocity and mean horizontal velocity.The intra-group effect(F>177.671,P<0.001),inter-group effect(F>3.761,P<0.05)and interaction effect(F>7.555,P<0.001)were significant in movement el-lipse area and movement length both with eyes open and closed.The intra-group effect(F>221.902,P<0.001)and interaction effect(F>7.586,P<0.001)were significant in the time of 10MWT,and the scores of BBS,FMA-LE and FGA;and the inter-group effect were significant in FGA score(F=5.258,P<0.01).Post Hoc test showed that all the indicators were better in the combined group and the visual deprivation group than in the con-trol group(P<0.05);as well as in the proprioceptive training group than in the control group(P<0.05)except mean longitudinal velocity with eyes open,mean horizontal velocity with eyes closed,and movement length with eyes open;while all the indicators were better in the combined group than both in the visual deprivation group and the proprioceptive training group(P<0.05);there was no significant difference between the visual depriva-tion group and the proprioceptive training group for all the indicators(P>0.05).Conclusion Both visual deprivation training and proprioceptive training can improve balance,lower limb motor function and walking of hemiplegic stroke patients,and the combination is more effective.

This study was aimed at determining the molecular characteristics of Yersinia pestis in the natural plague foci around Qinghai Lake through single nucleotide polymorphism technology,to lay a foundation for molecular epidemiological and source-tracing analysis of Y.pestis in this area.Using the whole genome sequencing technology,we obtained the whole genome sequences of 84 representative Y.pestis strains.Using the sequences of Y.pestis and Yersinia pseudotuberculosis IP32953 from the NCBI database as references,we compared and analyzed the 2 298 SNP loci of these strains.From 1957 to 2020,84 representative strains of Y.pestis from the natural plague foci around Qinghai Lake were divided into two clades:1.IN2 and 3.ANT1.The 1.IN2 clade was the characteristic population of Y.pestis throughout all epidemic years in this area.Additionally,analysis of the SNP distribution and hosts in the region indicated that the 1.IN2 clade was located in five counties except Wulan,whereas the 3.ANT1 clade was isolated from Himalayan marmot and dog in two counties.In conclusion,the population structure of SNP of Y.pestis in the natural plague foci around Qinghai Lake is relatively simple,and SNP analysis of Y.pestis provided a scientific basis for tracing plague epidemic sources and formulating plague prevention and control measures in this area.

Objective To investigate the role of cytochrome P450 2E1 (CYP2E1) in trichloroethylene (TCE)-induced skin sensitization and liver damage in guinea pigs, using diallyl sulfide (DAS), a CYP2E1 inhibitor, as an intervention. Methods Specific pathogen-free female guinea pigs were randomly divided into blank control group, solvent control group, positive control (2,4-dinitrochlorobenzene) group, TCE-exposure group, and DAS-intervention group. Skin sensitization experiments were conducted using the guinea pig TCE maximal dose-skin sensitization test. Urinary trichloroacetic acid levels were determined following TCE induction and challenge. At 48 hours after the final challenge, serum liver function markers and inflammatory cytokines levels were detected. Histopathological examination on skin and liver tissues was performed, and hepatic CYP2E1 protein expression and oxidative stress indicators were assessed. Results The sensitization rates of guinea pigs were 100.0%, 75.0%, and 33.3% in the positive control, TCE-exposure, and DAS-intervention groups, respectively, while the blank control and solvent control groups were both 0.0%. Compared with the guinea pigs in TCE-exposure group, those in the DAS-intervention group had lower urinary trichloroacetic acid levels at intradermal induction, local induction, first challenge, and 24 hours after the final challenge time point (all P<0.05). Histopathology of guinea pigs showed dermal inflammatory infiltration and basal keratinocyte necrosis in the TCE-exposure group, whereas only mild dermal inflammation was observed in the DAS-intervention group. The guinea pigs in TCE-exposure group exhibited diffuse hepatocellular necrosis, while hepatic damage in the DAS-intervention group was alleviated, characterized by only mild hepatocellular steatosis and hepatocyte swelling around the central vein. The skin sensitization rate of guinea pigs in the TCE-exposure group increased (all P<0.01), the serum alanine aminotransferase (ALT )activity, the levels of interleukin (IL)-2, IL-17, and tumor necrosis factor-α (TNF- α) increased (all P<0.05), the relative expression of CYP2E1 protein, the activity of superoxide dismutase (SOD), and the level of malondialdehyde in liver tissue increased (all P<0.05), while the activity of catalase decreased (P<0.05), compared with the blank control and solvent control groups. The serum ALT activity and the levels of IL-2, IL-17, and TNF-α of guinea pigs in DAS-intervention group reduced (all P<0.05), as well as CYP2E1 protein expression, SOD activity, and malondialdehyde level in liver tissue reduced (all P<0.05), compared with the TCE-exposure group. Conclusion TCE can induce hepatic CYP2E1 expression, thereby promoting oxidative stress and inflammatory responses, which contributes to skin sensitization and liver damage. DAS alleviates TCE-induced toxic effects on skin and liver by inhibiting CYP2E1 expression.