Objective:To compare the mid-term clinical effects of AngioJet rheolytic thrombectomy assisted catheter-directed thrombolysis (ART+CDT) with catheter-directed thrombolysis (CDT) in the treatment of acute deep venous thrombosis of lower extremities.Methods:Ninety-one patients admitted to the Department from Jan 2016 to Dec 2017 were placed with inferior vena cava filters and divided into ART+CDT group (30 cases)and CDT group (61 cases). Total urokinase dosge, thrombolytic time, operative cost, length of hospital stay, detumescence rate, thrombus clearance rate, cumulative patency rate of lower limb veins, Villalta score at 2 years and 5 years, thrombosis recurrence rate and chronic venous insufficiency quality of life questionnaire were compared between the two groups.Results:The success rate of surgery was 100% in both groups, there was no mortality. There were significant differences in the short-term postoperative outcomes between the two groups in terms of total dosage of urokinase, thrombolysis time, total cost of surgery, length of hospital stay, detumescence rate, venous patency scores before and after treatment, and venous patency rate (all P<0.05). For the mid- and long-term postoperative outcomes of 2 and 5 years, there were no significant differences in the incidence of PTS, recurrence rate of thrombus, chronic venous function scale, and cumulative patency rate at 2 years (all P>0.05). Conclusions:ART+CDT has a significant advantage over CDT alone in terms of early efficacy and early reopening of blood flow in patients. Both ART+CDT and CDT have a low incidence of PTS and a low recurrence rate of thrombus in the mid-term follow-up, and both have satisfactory performance in the mid- and long-term efficacy of interventional treatment of deep venous thrombosis of lower limbs.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To evaluate the long-term efficacy of tumor necrosis factor-α(TNF-α)inhibitor(TNFi)in the treatment of ankylosing spondylitis(AS)complicated with osteoporosis(OP)and the impact on bone metabolism,bone density,and inflammatory factors.Methods The data of 158 patients with AS and OP,who were admitted to Department of Rheumatology and Immunology of The First Affiliated Hospital of Naval Medical University(Second Military Medical University)from Jan.1,2010 to Dec.31,2017,were retrospectively collected.The patients were divided into bisphosphonate group(n=54),TNFi group(n=58),and TNFi+bisphosphonate group(n=46)according to the treatment methods.All patients were treated with calcium combined with calcitriol as the background treatment.After 5 years of treatment,Bath ankylosing spondylitis disease activity index(BASDAI)and Bath ankylosing spondylitis functional index(BASFI)scores were evaluated,and inflammatory indexes,bone metabolism markers,and bone mineral density were detected.Results After 5 years of treatment,the BASDAI and BASFI scores,erythrocyte sedimentation rate(ESR),C reactive protein(CRP),TNF-α,and interleukin-17A of the TNFi+bisphosphonate group and TNFi group were significantly lower than those before treatment(all P＜0.05);in the bisphosphonate group only ESR and CRP were significantly lower than those before treatment(both P＜0.05),and the other inflammatory indexes and BASDAI and BASFI scores showed no significant changes(all P＞0.05).The bone mineral density of the 3 groups after 5 years of treatment was significantly higher than that before treatment(all P＜0.05),and the bone mineral density of the TNFi+bisphosphonate group was significantly higher than that of the other 2 groups(both P＜0.05).After 5 years of treatment,the levels of parathyroid hormone(PTH),procollagen type 1 N-terminal propeptide(P1NP)and β-C-terminal telopeptide of type Ⅰ collagen(β-CTX)in the TNFi+bisphosphonate group and bisphosphonate group were significantly decreased compared with those before treatment(all P＜0.05),while the levels of N-terminal midfragment of osteocalcin(N-MID)and 25-hydroxy-vitamin D(25VitD)were significantly increased(all P＜0.05);in the TNFi group only PTH and P1NP levels were significantly decreased(both P＜0.05),while β-CTX,N-MID and 25VitD levels showed no significant differences(all P＞0.05).Conclusion Long-term use of TNFi in patients with AS and OP can effectively reduce disease activity,improve physical function,decrease the level of inflammatory factors,alleviate abnormal bone metabolism,and increase bone mineral density;and the combined use of TNFi and bisphosphonates has better efficacy.

Objective To investigate the efficacy of stabilization splint combined with orthodontic and orthognathic treatment on the patients of type Ⅱ bone malocclusion with condylar resorption by observing the changes in soft and hard tissues and condylar process in order to provide reference for combined therapy technology.Methods A descriptive research was performed on 13 patients with type Ⅱ bone malocclusion with condylar resorption admitted in our department from January 2020 to June 2023.Their clinical data were collected and analyzed retrospectively.They were 3 males and 10 females,with an age ranging from 18 to 27 years(average 21.769±3.032 years).All of them have received stabilization splint combined orthodontic and orthognathic treatment.The cephalometric parameters before and after treatment were compared to evaluate the improvement of appearance.The changes in condylar height and condylar bone density were observed and compared before and after treatment to evaluate the bone remodeling of the patients.Results In 6 months after treatment,the parameters of soft and hard tissues were in a trend of normal levels when compared with those in 1 month before treatment.Except for ANS-Me/N-Me and Pg-Pg',there were significant differences in the indicators such as SNA,SNB and ANB angles before and after the treatment(P＜0.05).No significant change in condyle height was observed between the above 2 time points(P＞0.05).But the condylar bone density of the most anterior point,vertex,and the last point were generally increased between the 2 time points(P＜0.01).Conclusion Stabilization splint combined with orthodontic and orthognathic treatment shows significant and stable clinical efficacy in the patients of type Ⅱ bone malocclusion with condylar resorption.It can effectively relieve joint symptoms and meet patients'requirements for facial beauty.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective:To investigate the brain functional connectivity and network of patients with bipolar depression (BD) during emotion recognition, and to assess the correlation of brain functional indicators with clinical data.Methods:From August 2023 to September 2024, a total of 34 BD patients and 35 healthy controls were recruited for the study. The 17-item Hamilton depression scale(HAMD-17) and the Hamilton anxiety scale (HAMA) were used to assess the depression and anxiety symptoms of BD patients. While all the participants performed the emotion recognition task, a functional near-infrared spectroscopy (fNIRS) with 52 channels was utilized to collect their oxyhemoglobin concentrations in dorsolateral prefrontal cortex (DLPFC), medial prefrontal cortex (mPFC), and temporal lobe (TL). Brain functional indicators, including brain functional connectivity(BFC) and brain functional network (BFN) parameters, were extracted using fNIRS analysis algorithms. SPSS 26.0 software was used to perform t-test, Wilcoxon rank sum test, chi-square test, Pearson correlation and multiple linear regression analysis. Results:The emotion recognition accuracy of BD patients ((69.40±18.32) %) was lower than that of healthy controls ((76.94±6.09)%)( t=-2.13, P=0.036), and the average spending time ((4.00±1.78) s) of BD patients was longer than that of healthy controls ((2.69±1.27) s) ( t=-2.81, P=0.007). The BFC values of right DLPFC-right mPFC, right DLPFC-left TL, right DLPFC-left mPFC, right TL-right mPFC, right TL-left TL, right TL-left mPFC, right mPFC-left DLPFC, and right mPFC-left mPFC, the clustering coefficient, and small-world coefficient of BD patients were lower than those of healthy controls (all P<0.05).The characteristic path length of BD patients was higher than that of healthy controls ( t=1.27, P<0.05). For BD patients, the total score of HAMD-17 were significantly and negatively correlated with the clustering coefficient, small-world coefficients, and BFC values of right DLPFC-left mPFC and right mPFC-left DLPFC ( r=-0.45--0.27, all P<0.05).The total score of HAMA was significantly and positively correlated with the BFC value of right DLPFC-left mPFC ( r=0.30, P<0.05). The results of multiple linear regression analysis showed that the clustering coefficient ( β=-0.12, t=-0.69, P=0.009), small-world coefficients ( β=-0.22, t=-1.05, P=0.013), and BFC values of right DLPFC-left mPFC ( β=-0.47, t=-2.29, P=0.030) and right mPFC-left DLPFC( β=-0.20, t=-0.90, P=0.010) were influencing factors of depressive symptoms in BD patients. The BFC value of right DLPFC -left mPFC ( β=0.37, t=2.36, P=0.026) was influencing factor for anxiety symptoms in BD patients. Conclusions:There are abnormalities in some BFC values and BFN parameters in the DLPFC, mPFC, and TL brain regions during the emotional recognition task, which are related to the clinical symptoms. The abnormalities may be associated with the emotional recognition deficits in BD patients. These findings may provide theoretical guidance for the development of clinical intervention strategies for BD patients.

Objective:To evaluate the clinical efficacy and safety of intense pulsed light combined with fruit acid in the treatment of erythema and pigmentation after facial acne.Methods:From January 2019 to December 2022, 108 patients were selected from Dermatology Hospital of Guangxi Zhuang Autonomous Region, including 30 males and 78 females, aged 20-44 (28.2±5.1) years. The patients were divided into three groups: intense pulsed light group (40 cases), fruit acid group (38 cases) and intense pulsed light combined with fruit acid group (30 cases). The clinical efficacy of the three groups was compared. The facial biological characteristics data of patients were collected with VISIA skin analyzer and the changes compared before and after treatment in each group.Results:The total effective rates of the intense pulsed light group, the fruit acid group and the combination group were 57.5% (23/40 cases), 50.0% (19/38 cases), and 80.0% (24/30 cases), respectively. Comparison of total effective rates among three groups, there were statistically significant differences (χ 2=6.70, P=0.04). Comparison of effective rates among different groups showed that there was no difference between the intense pulsed light group and the fruit acid group (χ 2=0.44, P=0.51); there were significant difference between the intense pulse light group and the combination group (χ 2=3.93, 6.49; P<0.05), and between the fruit acid group and the combination group (χ 2=6.49, P=0.01). After treatment, the VISIA scores of erythema, spots, pores, and purple in three groups of patients significantly decreased compared to before treatment ( P<0.05). The VISIA scores of each observation value showed a decreasing trend with the increase of treatment frequency ( P<0.01). During the treatment, no obvious adverse reactions were observed. Conclusions:Intense pulsed light combined with fruit acid in the treatment of facial erythema postacnes and postinflammatory hyperpigmentation can improve the efficacy and less adverse reactions.

Abstract Allergic diseases can occur in all systems of the body, covering the whole life cycle, from children to adults and to old age, can be lifelong onset and even fatal in severe cases. Children account for the largest proportion of the victims of allergic disease, Children s allergies start from scratch, ranging from mild to severe, from less to more, from single to multiple systems and systemic performance, so the prevention and treatment of allergic diseases in children is of great importance, which can not only prevent high risk allergic conditions from developing into allergic diseases, but also further block the process of allergy. At present, there is no consensus on the management system of allergic children in kindergartens and primary schools. The "Consensus on Allergy Management and Prevention in Kindergartens and Primary Schools", which includes the organizational structure, system construction and management of allergic children, provides evidence informed recommendations for the long term comprehensive management of allergic children in kindergartens and primary schools, and provides a basis for the establishment of the prevention system for allergic children.

Objective:To evaluate the effect of cinacalcet on right ventricular function in rats with MCT-induced arterial pulmonary hypertension by echocardiography.Methods:Thirty male SD rats were randomly divided into control group, PAH group, and cinacalcet group, with 10 rats in each group. Rats in the cinacalcet group were given intraperitoneal injection of cinacalcet hydrochloride with 30 mg/kg, and the control group and the PAH group were given equal-volume of solvent. Echocardiographic parameters: right ventricular wall thickness (RVWT), right ventricular basal dimension (RVD), left ventricular eccentricity index (EI), tricuspid annular plane systolic excursion (TAPSE), right ventricular fractional area change (RVFAC), tricuspid lateral annular systolic velocity (s′), right ventricular global longitudinal strain (RV4CSL), and right ventricular free wall longitudinal strain (RVFWSL), etc. Histopathological parameters: pulmonary arteriole wall thickness (WT), right ventricular cardiomyocyte mean diameter (RV cell-D), collagen volume fraction (CVF) and right ventricular hypertrophy index (RVI). Echocardiographic and pathological parameters were compared among three groups, and the correlation between right ventricular pathological changes and strain parameters was analyzed.Results:①Compared with the control group, WT, RV cell-D, CVF and RVI in PAH group were increased (all P<0.01), the size of right ventricle and thickness of RV wall were increased (all P<0.05), and the right ventricular longitudinal strain was reduced ( P<0.01). ②Compared with the PAH group, rats in the cinacalcet group showed reduced WT, RV cell-D, CVF and RVI (all P<0.01), as well as improved structure and function of the right ventricle (all P<0.05). There was no statistical difference of the above parameters between cinacalcet and control group (all P>0.05). ③Correlation analysis: the right chamber remodeling parameters CVF and RV cell-D were positively correlated with WT ( rs=0.706 3, 0.629 4; both P<0.05); and RVFWSL correlated well with CVF, RV cell-D ( rs=-0.685 3, r=-0.767 2; both P<0.05). Conclusions:The right ventricular inverse remodeling of PAH rats with the intervention of cinacalcet was retained, suggesting that cinacalcet had a protective effect on the structure and function of the right ventricle in rats with PAH.

Objective:To explore the association between dietary patterns and the incidence of type 2 diabetes mellitus(T2DM), so as to provide insights for the prevention and management of T2DM.Methods:Participants were recruited from the " The Tianjin Chronic Inflammation and Health Cohort Study(TCLSIH)" cohort study from 2013 to 2018, who had completed the modified semiquantitative food frequency questionnaire(FFQ) and blood glucose testing( n=26 425), free of cardiovascular disease, cancer, or diabetes at baseline. The relevant information collected includes food frequency, blood glucose concentration, and other confounding factors. In this study, the correlation between dietary patterns and T2DM was tested using Cox proportional risk regression model, and the gender stratification analysis and body mass index stratification analysis of different gender groups were carried out. All statistical analysis was performed using SAS 9.3 software. Results:The age of all participants was (41.0±11.5)years, and the cumulative incidence was 3.84% for T2DM. The cumulative incidence of T2DM in male population was 5.29%, while that in female population was 2.16%. There were significant differences in the incidence of T2DM among different genders( P <0.001). The multivariable-adjusted hazard ratios( HR) and corresponding 95% CI of T2DM across the plant-based dietary pattern score were 1.09(95% CI 0.91-1.31), 0.80(95% CI 0.66-0.97), and 0.76(95% CI 0.62-0.94; Ptrend =0.010). Moreover, no statistically significant differences were observed between animal and traditional northern Chinese diets with the incidence of T2DM. Conclusions:The plant-based dietary patterns were associated with substantially lower risk of developing T2DM, and there were no significant association between animal and traditional northern Chinese dietary patterns with T2DM. Plant-based dietary patterns characterized by a variety of fruit, leeks, onions, seaweed may be beneficial to the prevention and control of T2DM.