Objective:To investigate the clinical characteristics and management status of children with Turner syndrome (TS) in China.Methods:As a cross-sectional study, 1 089 TS patients were included in the database of the National Collaborative Alliance for the Diagnosis and Treatment of Turner Syndrome from August 2019 to November 2023. Clinical characteristics (growth development, sexual development, organ anomalies, etc.), karyotypes, auxiliary examinations, and treatments were collected and analyzed.Results:Among the 1 089 TS cases, 809 were recorded karyotypes. The karyotype distribution was as follows: 45, X in 317 cases (39.2%), X chromosome structural variants (including partial deletions of p or q arm, ring chromosome, and marker chromosome) in 89 cases (11.0%), 45, X/46, XX mosaicism in 158 cases (19.5%), mosaicism with X chromosome structural variants in 209 cases (25.8%), and presence of Y chromosome material in 36 cases (4.4%). Among the 824 TS cases, the age of diagnosis was 9.7(6.4, 12.2) years, with a height standard deviation score (HtSDS) of -3.1±1.2. Five hundred and fifty three cases underwent growth hormone (GH) stimulation test, and 352 cases (63.7%) had GH peak values <10 μg/L and 75.9% (577/760) had low IGF1 levels, with IGF1 SDS ≤-2 accounting for 38.2% (290 cases). Among 471 cases aged ≥8 years, 132 cases (28.0%) showed spontaneous sexual development (mean bone age (11.0±1.7) years), 10 cases had spontaneous menarche (mean bone age (12.0±2.2) years), and 2 cases had regular menstrual cycles. Common physical features included cubitus valgus (311 cases (28.5%)), neck webbing (188 cases (17.2%)), low posterior hairline (185 cases (17.0%)), shield chest (153 cases (14.0%)), high arched palate (127 cases (11.6%)), short fourth metacarpal (43 cases (3.9%)), and spinal abnormalities (38 cases (3.5%)). Congenital cardiovascular and urogenital anomalies occurred in 91 cases (19.4%) and 66 cases (12.0%)respectively. Abdominal ultrasound in 33 cases (7.2%) indicated fatty liver, hepatomegaly, intrahepatic bile duct stones, and splenomegaly. Among 23 cases undergoing oral glucose tolerance test (OGTT) test, 2 were diagnosed with diabetes mellitus and 4 with impaired glucose tolerance. Following diagnosis, 669 cases (80.7%) received rhGH treatment at a chronological age of (9±4) years and bone age of (8.3±3.2) years. Additionally, 112 cases (19.4%) received sex hormone replacement therapy starting at the age of (14±4) years and bone age of (12.6±1.2) years.Conclusions:The karyotypes of 45, X and mosaicism were most common in Chinese children with TS. The clinical manifestations were mainly short stature and gonadal dysplasia. However, a few TS children could be in the normal range of height, and some cases among those aged of ≥8 years old had spontaneous sexual development. Some exhibited physical features, congenital cardiovascular and urogenital anomalies, and dysfunction of the hypothalamic-pituitary-IGF1 axis. Moreover, a few of them developed impaired glucose tolerance and diabetes mellitus. Following diagnosis, most of the patients received rhGH treatment, and a few of them received sex hormone replacement therapy.

Objective To investigate the affecting factors of postoperative restenosis in patients with Trans Atlantic Inter-Society Consensus-Ⅱ(TASC-Ⅱ)type C or D atherosclerosis obliterans(ASO)treated with endovascular intervention.Methods Eighty-one patients who underwent endovascular interventional treatment for ASO were included and were followed up continuously for two years after the procedure.Also,the pre-and post-treatment data of the restenosis group and the nonstenosis group were compared and statistically analyzed to clarify the affecting factors of restenosis as well as the value of the related factors in predicting the postoperative restenosis in the preoperative period.Results The incidence of restenosis in 81 patients was 40.74％within two years after the interventional treatment.The unifactorial results showed that the comparison of ankle brachial index(ABI),age,gender,smoking history,body mass index(BMI),procedure,number of stent placement,lesion length,hyperlipidemia,coronary heart disease,diabetes mellitus,and hypertension between the two groups was not statistically significant(P＞0.05);the comparison of blood biochemical indexes in the levels of hypersensitive C-reactive protein(hs-CRP),fibrinogen,neutrophil-lymphocyte ratio(NLR),homocysteine(Hcy),and cystatin C(Cys C)showed a difference of statistically significant(P＜0.05);binary logistic regression results for fibrinogen level,hs-CRP,NLR,Hey,and Cys C were all independent risk factors for postoperative restenosis[odds ratio(OR)=40.501,4.507,4.381,1.509,and 23.094,P＜0.05].The results of receiver operating characteristic(ROC)curves showed that hs-CRP,NLR,and Cys C could effectively predict ASO postoperative restenosis,with area under the curve(AUC)of 0.683,0.637,and 0.632,and cutoff values of 4.225,3.465,and 1.000,respectively(P＜0.05).Conclusion Post-interventional vascular restenosis in ASO patients is correlated with the levels of fibrinogen,hs-CRP,NLR,Hcy,and Cys C.Also,hs-CRP,NLR,and Cys C may be used as blood biochemical indexes to predict post-interventional vascular restenosis in ASO patients.

Objective:To investigate the effect of HNRNPL protein on the proliferative ability of primary hepatocellular carcinoma cells and its potential mechanism.Methods:Online public database and real-time quantitative PCR were used to analyze the difference of HNRNPL expression between cancer and adjacent tissues. The effects of HNRNPL on HCC cell MHCC97H and HepG2 proliferation and MAPK pathway were investigated by Western blot, cell counting assay, colony formation assay and nude mouse transplantation tumor experiments.Results:The level of HNRNPL mRNA was validated to be higher in HCC tissue (2.76±0.37) than in normal tissue (1.00±0.14) with statistical difference ( t=3.93, P=0.002). Colony formation assay showed that the colony numbers of two MHCC97H knockdown groups (33.3±7.7) and (43.3±2.2) were lower than their control group (84.3±6.2), and two HepG2 knockdown groups (59.0±15.5) and (41.7±4.8) were lower than their control group (200.3±6.2) with statistical difference (both P<0.01). HNRNPL knockdown decreased the proliferation ability and activation level of MAPK pathway in HCC cells. Overexpression of oncogene c-RAF partially alleviated the anti-proliferation effect of HNRNPL knockdown and rescued the tumorigenic capacity. Conclusion:HNRNPL can promote hepatocellular carcinoma cell proliferation by activating MAPK signaling pathway.

Myocardial fibrosis is a key link in the occurrence and development of diabetic cardiomyopathy. Its etiology is complex, and the effect of drugs is not good.Cardiomyocyte apoptosis is an important cause of myocardial fibrosis. The purpose of this study was to investigate the effect of gaseous signal molecule sulfur dioxide (SO2 ) on diabetic myocardial fibrosis and its internal regulatory mechanism. Masson and TUNEL staining, Western-blot, transmission electron microscopy, RT-qPCR, immunofluorescence staining, and flow cytometry were used in the study, and the interstitial collagen deposition, autophagy, apoptosis, and changes in phosphatidylinositol 3-kinase (PI3K)/AKT pathways were evaluated from in vivo and in vitro experiments. The results showed that diabetic myocardial fibrosis was accompanied by cardiomyocyte apoptosis and down-regulation of endogenous SO2 -producing enzyme aspartate aminotransferase (AAT)1/2 . However, exogenous SO2 donors could up-regulate AAT1/2 , reduce apoptosis of cardiomyocytes induced by diabetic rats or high glucose, inhibit phosphorylation of PI3K/AKT protein, up-regulate autophagy, and reduce interstitial collagen deposition. In conclusion, the results of this study suggest that the gaseous signal molecule SO2 can inhibit the PI3K/AKT pathway to promote cytoprotective autophagy and inhibit cardiomyocyte apoptosis to improve myocardial fibrosis in diabetic rats. The results of this study are expected to provide new targets and intervention strategies for the prevention and treatment of diabetic cardiomyopathy.

Objective:To observe the effect of methylphenidate hydrochloride (MPH) combined with mentalization-based family therapy (MBFT) on clinical efficacy and social function in children with attention deficit hyperactivity disorder (ADHD).Methods:Sixty-four children with ADHD diagnosed in Wuxi Children's Hospital and Affiliated Hospital of Jiangnan University from June 2019 to May 2021 were selected and divided into observation group ( n=32) and control group ( n=32) according to the random number table.Children in both groups received methylphenidate hydrochloride extended-release tablets, while those in the observation group were given additional MBFT.The duration of treatment was 12 weeks in both groups.The parent symptom questionnaire (PSQ), swanson nolan and pelham-version Ⅳ (SNAP-Ⅳ) parent Al scale, and Weiss impairment functional scale (WFIRS-P) were used to evaluate the effectiveness of treatment.Statistical analysis was performed by SPSS 25.0 statistical software.In particular, the χ2 test was used for counting data and the paired sample t test was used for comparison of measurement data between the two groups before and after treatment. Results:(1) All the PSQ dimension scores of patients in the observation group and the control group after treatment were significantly lower than those before treatment (all P<0.01). Compared with the control group after treatment, the PSQ dimension scores of personality and behavior problems ((1.25±0.15), (0.94±0.18), t=7.484, P<0.001), learning problems ((1.57±0.16), (1.32±0.20), t=5.522, P<0.001), psychosomatic disorders ((0.56±0.11), (0.44±0.13), t=3.986, P<0.001), impulse hyperactivity ((1.76±0.23), (1.54±0.25), t=3.663, P<0.001), anxiety ((0.94±0.12), (0.76±0.11), t=6.255, P<0.001) and hyperactivity index ((1.74±0.19), (1.51±0.16), t=5.238, P<0.001) decreased significantly in the observation group after treatment.(2) Compared with the pre-treatment period, the SNAP-Ⅳ scale scores of attention deficit, impulsivity-hyperactivity and oppositional defiance were significantly lower in both groups after treatment (all P<0.01); and compared with the control group, the SNAP-Ⅳ scale scores of the above three dimensions were significantly lower in the observation group (all P<0.01). (3) All six dimensions (family, learning and school, life skills, self-management, social activities, and risk-taking activities)of the WFIRS-P scale were significantly lower in the children in the observation group after treatment compared with those before treatment (all P<0.01), and all the six dimensions of the WFIRS-P scale were significantly lower in the observation group compared with those in the control group (all P<0.01). Conclusion:Methylphenidate hydrochloride extended-release tablets combined with MBFT can significantly improve the clinical symptoms and social function of children with ADHD.

Background::A more comprehensive understanding of the trends of incidence, prevalence, and mortality in human immunodeficiency virus (HIV), and their complex interrelationships, may provide important evidence for decision-making related to HIV prevention and control. The variances in these indices between different population groups, genders, and ages are critical to decipher evolving patterns of the HIV epidemic in specific populations.Methods::A secondary analysis of relevant data was conducted using data extracted from the Global Burden of Disease study of 2019. HIV/acquired immune deficiency syndrome (AIDS) incidence, prevalence, AIDS-related mortality, and mortality-to-prevalence ratio (MPR) for annual percentage change, average annual percentage change (AAPC), and corresponding 95% confidence intervals (CIs) were calculated using joinpoint regression statistical analysis.Results::The AAPC of HIV/AIDS incidence, prevalence, AIDS-related mortality rate, and MPR were -1.4 (95% CI: -1.6, -1.2), 4.1 (95% CI: 4.0, 4.3), 2.0 (95% CI: 1.7, 2.3), and -2.1 (95% CI: -2.3, -1.8) between 1990 and 2019 globally, and were 3.5 (95% CI: 2.2, 4.8), 6.9 (95% CI: 6.8, 7.0), 8.1 (95% CI: 7.1, 9.1), and 1.2 (95% CI: 0.1, 2.3) in China during the same period. In terms of differences in the preceding indicators by gender, we observed a similar pattern of trends for male and female genders both globally and in China during the entire study period. Each specific age group exhibits a distinct pattern in terms of incidence, prevalence, mortality rate, and MPR both globally and in China.Conclusions::Prevalence and mortality rates of HIV/AIDS have increased between 1990 and 2019 globally and in China. While the incidence rate and MPR have declined globally over the past three decades, these two indicators are observed to present an increasing trend in China. There is a high HIV burden among young and middle-aged adults globally; however, the elderly have a high HIV burden in China. HIV screening at older age should be scaled up, and patients with advanced HIV disease should be provided early with additional care and health resources.

Objective:To explore the clinical application of free chimeric medial femoral condyle osteofascial free flap (CMFCOF) in the treatment of traumatic composite bone and soft tissue defect of hand and foot.Methods:Between January, 2015 and March, 2020, 8 patients with traumatic composite bone and soft tissue defect in hand and foot were treated with CMFCOF. Of the 8 patients, there were 6 males and 2 females, with an average age of 41 (range, 24 to 56) years. The causes of injury included 3 of traffic accident, 3 of machine crush and 2 of crush. Two cases had proximal phalanx defect, 3 with metacarpal bone and 3 with metatarsal bone. The time between injury to the flap repair were 2 to 120 (mean, 84) days. The size of bone defect ranged from 2.0 cm×1.2 cm×1.2 cm to 4.4 cm× 3.0 cm×2.3 cm. The soft tissue defect ranged from 2.0 cm×1.4 cm to 5.6 cm×4.5 cm. All bone defects were on the diaphysis, without involvement of joints. Two cases had tendon defect. According to the defect of bone and soft tissue, the CMFCOF was prepared and skin graft was performed on the surface of its fascial flap.Results:The average time of flap harvesting was 53(52-96) minutes. All donor sites were directly closed. All flaps and skin grafts achieved stage I survival. All patients entered 9-16 months of follow-up, with an average of 14.5 months. The average healing time of bone was 7.5 (range, 6-10) weeks. At the last follow-up review, all flaps were not thinned. The function of donor site was restored well, without weight bearing disorder and paraesthesia in the anterior patella area. According to the trial standard of Digit Function Evaluation of the Hand Surgery Society of Chinese Medical Association, 3 patients were rated as excellent, 1 was good and 1 was fair. According to the Maryland foot evaluation criteria, 3 patients were rated as excellent for recovered with normal weight-bearing walking.Conclusion:CMFCOF can achieve satisfactory results in repairing composite bone and soft tissue defect of hand or foot. The flap has the advantages in simple operation, high quality of bone and concealed donor site.

The establishment of a landscape of enhancers across human cells is crucial to deciphering the mechanism of gene regulation, cell differentiation, and disease development. High-throughput experimental approaches, which contain successfully reported enhancers in typical cell lines, are still too costly and time-consuming to perform systematic identification of enhancers specific to different cell lines. Existing computational methods, capable of predicting regulatory elements purely relying on DNA sequences, lack the power of cell line-specific screening. Recent studies have suggested that chromatin accessibility of a DNA segment is closely related to its potential function in regulation, and thus may provide useful information in identifying regulatory elements. Motivated by the aforementioned understanding, we in-tegrate DNA sequences and chromatin accessibility data to accurately predict enhancers in a cell line-specific manner. We proposed DeepCAPE, a deep convolutional neural network to predict enhancers via the integration of DNA sequences and DNase-seq data. Benefitting from the well-designed feature extraction mechanism and skip connection strategy, our model not only consistently outperforms existing methods in the imbalanced classification of cell line-specific enhancers against background sequences, but also has the ability to self-adapt to different sizes of datasets. Besides, with the adoption of auto-encoder, our model is capable of making cross-cell line predictions. We further visualize kernels of the first convolutional layer and show the match of identified sequence signatures and known motifs. We finally demonstrate the potential ability of our model to explain functional implications of putative disease-associated genetic variants and discriminate disease-related enhancers. The source code and detailed tutorial of DeepCAPE are freely available at https://github.com/Sheng-quanChen/DeepCAPE.

Objective To analyze the frequency of interleukin (IL)-22+CD161+CD4+ T cells in the peripheral blood mononuclear cells (PBMCs) in rheumatoid arthritis (RA) patients compared with healthy control subjects and investigate the relationship of IL-22+CD4+CD161+ T lymphocyte frequency changes with RA disease activity.In addition to explore the pathogenesis of RA,and to look for new treatment targets for RA.Methods Twenty-one RA cases were included in the Department of Rheumatology of Tangshan Gongren Hospital from 2017 to 2018.Fourteen patients were female and 7 were male with the age ranged from 36 to 74 years old.The average age of this group of patients was (55±10) years,the average disease course was (60±50) months.All patients fulfilled the classification criteria of American College of Rheumatology [American College of Rheumatology (ACR)].Twenty-one subjects were enrolled as the control group,all of them came to Tangshan Gongren Hospital for regular health check-up.Fifteen subjects in the control group were female and 6 were male.Their age ranged between 40-78 years old with the average age of (55±9) years.IL-22+CD4+CD161+ T cells in PBMCs were detected by flow cytometry.The frequency variation of different CD4+CD161 + T was compared between case and control groups.The correlation was studied between the frequency and RA disease activity score (DAS28),tender joints number,swollen joints number,red blood cell sedimentation rate,high sensitive C reactive protein and white blood cell counts,red blood cell counts,platelet counts,IgG,IgA,IgM,complement C3 level,complement C4 level.T-test or Mann-Whitney U test were used for single-factor analysis,Pearson's test was used for correlation analysis.Results The percentage of RA group secreted CD4+ T cells (0.33± 0.20)％ of INF-γand IL-22,CD4+ T cells (0.51±0.29)％ of IL-22,and CD4+CD161+ T cells of IL-22 simultaneously.The number (0.55 ±0.28)％ was.significantly higher than that of the healtby control group [(0.22±0.14)％,(0.25±0.18)％,(0.36±0.24)％],and the differences were statistically significant [P=0.002,P=-0.0.45,P=0.026].Conclusion The percentage of IL-22+CD4+CD161+ T lymphocytes in the peripheral blood monocytes in RA patients is significantly higher than that in the healthy controls.The results of this study suggest that IL-22+CD4+CD161+ T lymphocytes in RA patients maybe related to RA disease activity and joint lesions.

Objective: To analyze the longitudinal change of serum total cholesterol concentration in 733 rural residents in Shanxi province. Methods: Based on the residents of five rural areas in Shanxi province who participated in China nutrition and health survey in 2002, a follow-up survey was conducted in 2015. Fasting venous blood of the participants was collected and serum TC concentration was tested by cholesterol oxidase method. Results: Of 733 participants, 332 were male and 401 were female. In 2002 baseline survey, the age of the participants was (42.6±9.5) years old, 76.2% of male and 83.8% of female had junior middle school education or below. Proportion of smoking were 65.7% and 1.2%, drinking were 26.8% and 4.0%, obesity were 6.3% and 12.0%, and central obesity were 27.1% and 31.9%, respectively in male and female. The follow-up age of participants in 2015 was (55.8±9.5) years old, proportion of smoking changed to 48.2% and 1.5%, drinking were 49.7% and 3.0%, obesity increased to 11.8% and 18.2% and central obesity increased to 41.6% and 53.6%, respectively in male and female. The overall serum TC level increased from (3.82±0.89) mmol/L to (4.72±0.97) mmol/L with an average increase of 27.2%, which increased from (3.84±0.94) mmol/L to (4.54±0.93) mmol/L in male with an average increase of 22.7%, and increased from (3.81±0.84) mmol/L to (4.86±0.98) mmol/L in female with an average increase of 30.9%. The serum TC levels in 18-, 30-, 40-, and 50-59 years old group increased from (3.42±0.83), (3.72±0.77), (3.90±0.83) and (4.00±1.03) mmol/L to (4.38±1.01), (4.79±0.92), (4.73±0.99) and (4.76±0.96) mmol/L, with average increase range of 31.4%, 32.1%, 25.2% and 22.6%, respectively. The mean serum TC levels between two years all had statistically significant difference among groups of gender, age, education, marital status, family history of cardiovascular disease, smoking, drinking, BMI and waist circumference after paired t-test and ANOVA analysis (P<0.01). Conclusion The longitudinal serum TC level of rural residents in Shanxi province increased rapidly.