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

Objective To investigate the epidemiological characteristics of lymphoma mortality and potential years of life lost among Wuhan residents, and to provide a scientific basis for the prevention and control of lymphoma. Methods Data on lymphoma deaths among residents in Wuhan from 2010 to 2019 were collected from the population-based Wuhan Mortality Surveillance System. Joinpoint regression model was used to evaluate the trends in age-standardized mortality rates and potential years of life lost due to lymphoma among the residents of different ages and genders. Potential years of life lost rate was used to assess the disease burden. Results There were 4 055 deaths (2481in male and 1 574 in female) from major kidney diseases in Wuhan residents between 2010 to 2019, with an age-standardized mortality rate of 5.11/100 000. The mortality rate of major kidney diseases showed an upward trend with increasing age. Between 2010 and 2019, the age-standardized mortality rates of the multiple myeloma and non-Hodgkin lymphoma were significantly increased (APC=6.924%, APC=1.407%, P＜0.05), and the potential years of life lost rate of non-Hodgkin lymphoma in female were significantly increased (APC=7.935%，P＜0.05). Conclusion From 2010 to 2019, the mortality rate of lymphoma among residents of Wuhan City shows an upward trend, especially for multiple myeloma and non-Hodgkin lymphoma. The disease burden of multiple myeloma shows an increasing trend in the female population, suggesting the need to take corresponding preventive and control measures.

Objective To compare the effects of three nickel-titanium file systems,ProTaper Next,TruNatomy,and VDW.RO-TATE,on the morphology of the Danger Zone of the mesial buccal root of mandibular first molar after root canal preparation using Mi-cro-CT and 3D printing technology.Methods 3D-printed mandibular first molars were selected and designed for purpose.They were randomly divided into three groups according to the used NiTi files(n=20).Micro-CT was used to scan the cross-sectional images of the Danger Zone 2 mm below the furcation of the mesial buccal root before and after root canal preparation.The changes in the root ca-nal wall thickness,root canal volume,surface area,cross-sectional area,and root canal transportation in the Danger Zone were ob-served.Statistical analysis was performed using one-way ANOVA(P＜0.05).Results Statistically significant differences were observed before and after root canal preparation in the Danger Zone among the three groups(P＜0.05).Among the three groups,the PTN files caused the largest change before and after preparation,followed by VDW files,and the TRU files had the smallest change.Conclusion The study highlights TruNatomy's conservative shaping capacity,advocating its use in minimally invasive endodontics,whereas Pro-Taper Next may be reserved for cases requiring aggressive canal preparation.

Objective To comparatively analyze the disparities in informatization construction between primary healthcare institu-tions in remote and non-remote areas,clarify the causes and manifestations of regional digital divides,and provide empirical evidence for optimizing resource allocation in remote areas and promoting health equity.The study also offers policy insights for advancing the"Internet+Healthcare"strategy based on local conditions.Methods A stratified sampling survey was conducted among 1 255 primary healthcare institutions in Sichuan Province to systematically compare informatization construction differences between remote and non-remote areas.Results Compared with non-remote areas,remote areas exhibited significant gaps in the coverage of informa-tization infrastructure and the construction of core system integration platforms.Remote areas also had higher absence rates of clinical service systems and notable disparities in institutional informatization investment and the allocation of dedicated IT person-nel.However,remote areas demonstrated strengths in the deployment of health terminals(e.g.,integrated health devices,smart follow-up kits,and wearable devices)and the construction of systems for infection control/communicable disease management and patient follow-up management.Conclusion Regional digital divides are primarily constrained by three factors:fiscal invest-ment,talent reserves,and technical adaptability.A differentiated policy support system is needed to address these challenges.

Objective To investigate the relationship between the threonine and tyrosine kinase(TTK)gene and eyelid basal cell carcinoma(BCC).Methods Bioinformatics methods were used to screen the core gene(namely,TTK)associated with the occurrence and development of BCC from the Gene Expression Omnibus(GEO)database.Surgically removed eyelid BCC tissue specimens(BCC cells were divided into BBC Grade Ⅰ,Ⅱ and Ⅲ groups by tumor grade)and be-nign tumor tissue specimens(Control group)were collected from Ziyang Central Hospital for subsequent experiments.Cel-lular immunofluorescence assay(CIA)was used to detect the expression of the TTK gene in benign and malignant eyelid tumor cells.After knocking down TTK in BCC cells through transfection with lentiviruses(the cells transfected with LV-TTK-shRNA were taken as the TTK-shRNA group,and those transfected with LV-BBC-shRNA were taken as the BBC nega-tive control group),CIA was used to detect the expression of key proteins Bcl-2 and Bax in the apoptotic signaling pathway of each group of cells.Results The bioinformatics analysis showed that the TTK gene was the core gene associated with the occurrence and development of eyelid BCC.CIA detection results revealed that the fluorescence signal intensities in the tumor cytoplasm of Control,BCC Grade Ⅰ,Ⅱ,and Ⅲ groups were 1.03±0.07,1.28±0.11,1.58±0.13 and 1.92±0.17,respectively.The fluorescence signal intensity gradually increased,and the difference in fluorescence signal intensity among the four groups was statistically significant(all P＜0.05).Compared with that in the Control group(1.02±0.05),the cell fluorescence intensity was increased in the BCC negative control group(1.74±0.12)and decreased in the TTK-shRNA group(1.31±0.09)(P＜0.05).The difference in cell fluorescence intensity was significant among the Control,BCC nega-tive control and TTK-shRNA groups(all P＜0.05).The fluorescence intensity of the anti-apoptotic protein Bcl-2 was 1.04±0.12 in the Control group,2.12±0.23 in the BCC negative control group,and 1.43±0.15 in the TTK-shRNA group.The fluorescence intensity of the pro-apoptotic protein Bax was 1.02±0.08 in the Control group,0.64±0.11 in the BCC negative control group,and 1.47±0.16 in the TTK-shRNA group.After TTK knockdown,the expression level of BcL-2 in BCC cells decreased,and that of Bax increased.The fluorescence intensities of BcL-2 and Bax were significantly different among the Control,BCC negative control and TTK-shRNA groups(all P＜0.05).Conclusion The TTK gene plays a role in the regulation of eyelid BCC cell proliferation,and this effect is closely related to the PI3K-AKT-Bcl-2/Bax signaling path-way.

Ischemic stroke is a sudden neurological disorder caused by local cerebral ischemia and persistent cerebral infarc-tion due to impaired blood supply of the brain.IS,with a high disability and mortality rate,is a high incidence disease in Chi-na.Mitochondria play a central role in the pathological and physiological processes of IS.Mitochondrial quality control(MQC)is the cornerstone of maintaining mitochondrial function and the integrity of mitochondrial network,playing an indispen-sable role in promoting neuronal survival and restoring neural vascular unit homeostasis after IS.IS belongs to stroke in tradi-tional Chinese medicine,and is the first of the four major diffi-cult diseases of"stroke,phthisis,swell,and dysphagia".The syndrome of IS belongs to the deficiency in origin and excess in superficies.Traditional Chinese medicine has thousands of years of experience in treating ischemic stroke.Numerous pharmaco-logical studies have found that the therapeutic effect of traditional Chinese medicine on ischemic stroke is closely related to the mechanism of mitochondrial quality control.Therefore,this arti-cle provides a review of the mechanism of MQC in IS and tradi-tional Chinese medicine targeted intervention for MQC,in order to provide reference and inspiration for new treatment for IS.

Objective:To analyze the epidemiological and clinical characteristics of pertussis cases identified through active surveillance.Methods:Active surveillance for pertussis was conducted in three sentinel hospitals in Yiwu, Zhejiang Province, and Yongcheng, Henan Province. The study population included cases that met the surveillance case definition and sought medical care at outpatient/emergency departments or were hospitalized between June 1, 2021, and May 31, 2022. Samples were collected for bacterial culture and PCR detection. Case information and clinical data were collected. Differences in rates were assessed using the chi-square test or Fisher's exact probability test, and the differences in cough time were compared using the Mann-Whitney U test. Results:Among 1 423 cases of pertussis surveillance, the positive rate of pertussis was 28.11% (400/1 423), with a median age of 5 years (interquartile range: 2, 8). The positive rate in Yongcheng, Henan Province, and Yiwu, Zhejiang Province were 39.27% (216/550) and 21.08% (184/873), respectively; the positive rate of pertussis was highest in July 2021, and the highest positive rate of pertussis was among those aged 10-14. The positive rate of pertussis in hospitalized cases was higher than in outpatient/emergency cases (26.68%) ( χ2=4.16, P=0.041). Among the 400 laboratory test-positive cases, the highest proportion of atypical symptom cases was in adults aged 20-59 (43.33%, 13/30). The specificity rates of apnea and worsening nocturnal cough in monitored cases under 3 months of age were 100.00% and 73.81%, respectively. Among monitored cases aged 3 months to 9 years, the proportions of symptoms including worsening nighttime cough (63.00%) and night sweats (4.59%) in test-positive cases were significantly higher than those in the test-negative group (47.77% and 0.56%, respectively), with statistically significant differences (both P<0.05). The specificity rates of worsened nighttime coughing and night sweats were 52.23% and 99.44%, respectively. Conclusions:The active surveillance results for pertussis showed that the 10-14 age group exhibited the highest positivity rate. Active surveillance enhanced the detection rate of pertussis. Among laboratory-confirmed cases, the proportion of atypical symptoms was the highest in adults, suggesting that laboratory testing should be combined to diagnose programs of pertussis. For infants under 3 months, worsening nighttime cough and apnea increase the diagnostic specificity, while for individuals aged 3 to 9 years old, worsening nighttime cough and night sweats increase the diagnostic specificity.

Objective This study aims to systematically evaluate the evidence-based medicine of traditional Chinese medicine(TCM)in the treatment of dry eye,analyze its efficacy and differences compared with modern Western medicine treatments,and provide a scientific basis for clinical application.Methods By searching Chinese and English databases(including CNKI,Wanfang Data,PubMed,Cochrane Library,etc.),we included meta-analyses and systematic reviews of TCM treatments for dry eye.Literature was screened according to strict inclusion and exclusion criteria,and relevant data were extracted and integrated for analysis.The Mantel-Haenszel fixed-effects model was used to calculate the relative risk(RR)and mean difference(WMD),with the effect size expressed as a 95％confidence interval,to analyze the efficacy in-dicators of TCM treatment for dry eye.Results A total of 21 articles were finally included,involving various TCM inter-ventions for dry eye(such as Chinese herbal medicine,acupuncture,and TCM external therapies).The results showed that TCM treatment was superior to Western medicine alone in improving the overall clinical efficacy[RR=1.63,95％CI(1.46,1.81),P＜0.05],prolonging tear film break-up time[MD=2.23,95％CI(1.85,2.60),P＜0.05],and increasing tear secretion[MD=1.49,95％CI(1.04,1.94),P＜0.05].In addition,acupuncture,the combination of Chinese herbal medicine and Western medicine,and TCM external therapies all demonstrated unique advantages in improving dry eye symptoms and tear function.Conclusion TCM treatment for dry eye shows significant efficacy in key indicators such as overall clinical efficacy,tear film break-up time,and tear secretion,with a high level of safety.

Objective To observe the value of conventional MRI and diffusion weighted imaging(DWI)for differentiating soft tissue lymphoma(STL)and soft tissue sarcoma(STS).Methods Conventional MRI and DWI data of 25 cases of STL(STL group)and 38 cases of STS(STS group)were retrospectively analyzed.MRI features being statistically different between groups were included in logistic regression analysis to screen the independent risk factors of STL and to evaluate the sensitivity,specificity and accuracy of their combination for predicting STL.Receiver operating characteristic curve was generated,the area under the curve(AUC)was calculated to assess the diagnostic efficacy of the mean apparent diffusion coefficient(ADCmean),the minimum apparent diffusion coefficient(ADCmin),the maximum apparent diffusion coefficient(ADCmax)values for distinguishing STL from STS.Results Slightly hyperintensity on T1WI,non-necrosis,involvement of multiple muscle groups and homogeneous enhancement were all independent risk factors of STL(all P＜0.05).The sensitivity,specificity and accuracy of their combination for predicting STL was 72.00％(18/25),89.47％(34/38)and 82.54％(52/63),respectively.ADCmean,ADCmin and ADCmax values of STL was(1.06±0.18)× 10-3,(0.77±0.14)×10-3 and(1.47±0.31)× 10-3mm2/s,respectively,all lower than those of STS([1.31±0.17]× 10-3,[1.02±0.23]× 10-3 and[1.64±0.16]× 10-3 mm2/s;t=-4.829--2.498,all P＜0.05).The AUC of ADCmean,ADCmin and ADCmax values and their combination for differential diagnosis of STL and STS was 0.845,0.844,0.683 and 0.877,respectively.Conclusion Conventional MRI features,including T1WI signal intensity,necrosis,involvement of multiple muscle groups and enhancement pattern,along with ADCmean and ADCmin values derived from DWI contributed to differentiating STL and STS.

Objective:To explore the relationship between serum human epididymal secretory potein 4(HE4),carcinoembryonic antigen(CEA),carbohydrate antigen 199(CA199)levels with clinicopathological characteristics and prognosis of uterine fibroid patients.Methods:87 patients who were diagnosed with uterine fibroids in Xiamen Maternal and Child Health Hospital during the period of January 2019 to January 2024 were selected as the observation group,and 87 women who underwent health checkups during the same period were selected as the control group.The serum HE4,CEA and CA199 levels were detected and compared between the two groups before and 1 month after surgery.The relationship between serum HE4,CEA and CA199 levels before surgery and their clinicopathological characteristics was analyzed.The patients with uterine fibroids were followed up for 1 year after surgery,and they were divided into recurrence group and non-recurrence group according to the recurrence status,influencing factors of postoperative recurrence were analyzed by multiple logistic regression model,the predictive value of CEA,HE4,and CA199 for postoperative recurrence was analyzed by receiver operating characteristic(ROC)curves.Results:Serum HE4,CEA and CA199 levels before surgery in the observation group were significantly higher than those in the control group(P＜0.05).Serum HE4,CEA and CA199 levels before surgery in uterine fibroids patients were significantly correlated with breast hyperplasia,the location of the fibroids,the number of tumors and the maximum diameter of the fibroids(P＜0.05).87 patients with uterine fibroids were followed up for 1 year after surgery,with a recurrence rate of 26.44％.Serum HE4,CEA and CA199 levels at 1 month after surgery in the recurrence group were significantly higher than those in the non-recurrence group(P＜0.05).Elevated HE4,elevated CEA and elevatedCA199 were independent risk factors for postoperative recurrence in uterine fibroids patients(P＜0.05).The area under the curve(AUC)of combined prediction of CEA,HE4,and CA199 for predicting postoperative recurrence of uterine fibroma patients was 0.880.Conclusion:Serum HE4,CEA,and CA199 in uterine fibroids patients are abnormally elevated,and closely related to their clinicopathological characteristics.Serum HE4,CEA,and CA199 levles are influencing factors for postoperative recurrence in uterine fibroids patients and have good predictive value for postoperative recurrence.