Char syndrome is a rare autosomal dominant genetic disorder characterized by patent ductus arteriosus, facial dysmorphism, and dysplasia of fingers/toes. It may also be associated with multiple papillae, dental dysplasia, and sleep disorders. TFAP2B has proven to be a pathogenic gene for neural crest derivation and development, and several variants of this gene have been identified. Bone morphogenetic protein signaling plays an important role in embryonic development by participating in limb growth and patterning, and regulation of neural crest cell development. TFAP2B is an upstream regulatory gene for bone morphogenetic proteins 2 and 4. Variants of the TFAP2B gene may lead to abnormal proliferation of neural crest cells by affecting the expression of bone morphogenetic proteins, resulting in multiple organ dysplasia syndrome. In addition, TFAP2B variants may only lead to patent ductus arteriosus instead of typical Char syndrome.

Objective:To explore the acupoint selection law in acupuncture and moxibustion in treating postpartum incontinence by using data mining technology.Methods:The clinical research literature on acupuncture and moxibustion treatment for postpartum incontinence was retrieved from CNKI, Wanfang Data, VIP, CBM, China Medical Journal Full-text Database, PubMed, Embase, Web of Science from the establishment of the databases to February 1, 2023. The acupoint prescription database was established using Excel 2016 and conducting frequency statistics of acupoints, meridians and specific acupoints. Clustering analysis was performed using SPSS Statistics 25.0, and association rule analysis was performed using SPSS Modeler 18.0.Results:A total of 70 articles were included, involving 70 acupuncture prescriptions and including 31 acupoints with a total frequency of 384 times. The top five acupoints were Sanyinjiao (SP6, 46 times), Guanyuan (CV4, 45 times), Zusanli (ST36, 43 times), Zhongji (RN3, 41 times), and Qihai (CV6, 38 times). The commonly used meridians were Conception Vessel, bladder meridian and spleen meridian. The involved acupoints were mostly located in the lower limbs and belly, and most of them were Jiaohui, Mu and Wushu acupoints. Five effective clustering groups were obtained by clustering analysis of high frequency acupoints. The core acupoint combination of association rules was Sanyinjiao (SP6)-Zusanli (ST36)-Guanyuan (CV4)-Qihai (CV6)-Zhongji (RN3).Conclusions:The pathogenesis of postpartum urinary incontinence is mainly characterized by qi deficiency. Acupuncture and moxibustion treatment of postpartum urinary incontinence follows the principles of invigorating qi and tonifying spleen, nourishing lung and tonifying kidney, paying attention to the use of acupoints in abdomen and lower limbs, and using the methods of upper and lower acupoints, anterior and posterior acupoints.

Objective:To screen mutations of the adenosine triphosphate(ATP)-binding cassette transporter A3(ABCA3)gene in elderly Chinese individuals with lung interstitial diseases(ILDs)and to analyze the clinical characteristics of ILDs in elderly patients.Methods:A prospective study, After further image analysis of patients diagnosed with interstitial lung diseases between September 2015 and December 2018 at the Department of Respiratory and Critical Care Medicine, the Second Xiangya Hospital of Central South University, 103 patients were willing to provide peripheral blood samples and signed informed consent.DNA samples were extracted and whole exome sequencing was performed to screen ABCA3 gene mutations.Clinical data of patients were summarized and analyzed.Results:Seven rare variants of the ABCA3 gene were identified in 6 patients, with a mean age of 67 years(69-73 years)and an equal sex distribution, and 33.3%(2/6)were smokers.The most notable presentation was diffuse lung lesions.Patients' final diagnoses included idiopathic pulmonary fibrosis(IPF, 3/6), nonspecific interstitial pneumonia(NSIP, 1/6), and IgG4-related lung disease(2/6). Meanwhile, compound heterozygous mutations of the ABCA3 gene responsible for IPF were identified in patient No.39, including p. Asp1465Asn, p.Leu3Vval and p. Val93Ile3, a new finding in patients with ILDs.Conclusions:ABCA3 mutation-related lung interstitial diseases exhibit variable characteristics, with differences in the age of onset, clinical manifestations, imaging features and prognosis between patients.ABCA3 mutations responsible for early-onset ILDs are mostly homozygous or compound heterozygous and usually highly pathogenic nonsense mutations.In contrast, ABCA3 mutations identified in elderly patients with ILDs are often missense mutations, a possible explanation for the variability of ILDs in the elderly.Since patients with ILDs caused by ABCA3 variants respond poorly to currently available treatment options, early genetic diagnosis may benefit patients by enhancing disease awareness.

Objection To investigate the value of CT based radiomics in predicting progression of early acute pancreatitis (AP). Methods:From November 2013 to February 2021, 109 patients diagnosed with AP according to the new revised Atlanta classification in Yijishan Hospital of Wannan Medical College were retrospectively analyzed. The patients were divided into progressive group (40 cases) and non-progressive group (69 cases) according to the follow-up results. All patients underwent plain and enhanced abdominal CT scan within a week of onset. The patients were divided into training set (77 cases, including 28 cases in progressive group and 49 cases in non-progressive group) and validation set (32 cases, including 12 cases in progressive group and 20 cases in non-progressive group) in a ratio of 7∶3 using a computer completely random method. Manual region of interest mapping was performed on all levels of pancreas on the plain scan, arterial phase, venous phase and delayed phase CT images, then performed 3D fusion. AK software was used to extract texture features. The minimum redundancy maximum relevance and minimum absolute shrinkage and selection operator regression analysis were used to select features and establish radiomics labels of the plain scan, arterial phase, venous phase, delayed phase and combining the 4 sequences. The multiple logistic regression analysis was used to establish the clinical model by combining clinical features and CT features, and the comprehensive model was established by combining clinical features, CT features and imaging radiomics label. The receiver operating characteristic (ROC) curve was used to evaluate the efficacy of each model in predicting early AP progression and the decision curve analysis (DCA) was used to evaluate the clinical application value of each model.Results:In the training set, logistic regression results showed that edge was an independent predictor (OR=0.16, P=0.033). The clinical model was established using edge and serum calcium level, and its areas under the ROC curve (AUC) in the training set and validation set were 0.69 and 0.70, respectively. Totally 14, 11, 13, 13 and 9 optimal texture features were extracted from the plain scan, arterial phase, venous phase, delayed phase and combined sequence images, respectively. The delay phase image radiomics label had relatively better predictive performance in training set and validation set, and the AUC were both 0.85. The comprehensive model was established based on the delayed phase image radiomics label (OR=2.22, P<0.001) and edge (OR=0.02, P=0.042), and the AUC in the training set and validation set was 0.90 and 0.86, respectively. DCA showed that both the comprehensive model and the delayed phase radiomics label had better benefits. Conclusions:CT radiomics model has high value for predicting progression of AP, and its clinical benefits exhibited superior performance of clinical model.

Objective: To examine the effects of obesity and central obesity on hypertension, so as to provide insights into the prevention and control measures of hypertension. Methods: From September to December 2018, residents at ages of 35 to 75 years were sampled using the multi-stage random sampling method in Baiyin District, Baiyin City, Gansu Province, and subjected to questionnaire surveys and physical examinations. The interaction between obesity/central obesity and hypertension was evaluated using logistic regression analysis. The synergy index ( SI ), relative excess risk due to interaction ( RERI ) and attributable proportion due to interaction ( AP ) were calculated using Excel compiled by Andersson et al. Results: A total of 6 246 questionnaires were allocated and 6 169 valid questionnaires were recovered, with an effective recovery rate of 98.77%. The respondents included 3 038 men ( 49.25% ) and 3 131 women (50.75%), with a mean age of ( 52.05±8.78 ) years. There were 832 respondents with obesity ( 13.49% ) and 2 278 with central obesity ( 36.93% ). The crude and standardized prevalence rates of hypertension were 35.89% and 33.05%, respectively. Multivariable logistic regression analysis showed that obesity ( OR=2.020, 95%CI: 1.705-2.393 ) and central obesity ( OR=1.622, 95%CI: 1.433-1.836 ) were statistically associated with hypertension. There was no multiplicative interaction between obesity or central obesity and hypertension ( OR=1.011, 95%CI: 0.655-1.560 ), and no additive interaction was detected between obesity or central obesityand hypertension ( SI=1.405, 95%CI: 0.815-2.424; RERI=0.658, 95%CI: -0.298 to 1.614; AP=0.201, 95%CI: -0.075 to 0.476 ). Conclusions Obesity and central obesity increase the risk of hypertension; however, no interaction is detected between obesity or central obesity and hypertension.

Clinical data of 26 patients with proton pump inhibitor dependent gastroesophageal reflux disease (GERD) who underwent anti-reflux mucosectomy (ARMS) in Nanjing Drum Tower Hospital from July 2017 to December 2020 were reviewed, and the GERD questionnaire (GERD-Q) score, the short-form reflux-qual (RQS) score, esophageal motility and 24 h esophageal pH parameters before and after ARMS were compared. With a median follow-up period of 18.4 months (6-27 months), 23 (88.5%) patients reported symptomatic improvement and 15 (57.7%) patients discontinued the use of proton pump inhibitors. After ARMS, the mean scores of GERD-Q (6.23 VS 13.19, P=0.004) and RQS (26.67 VS 10.98, P<0.001) were significantly improved, the mean DeMeester score (10.69 VS 53.15, P<0.001), the mean acid exposure time percentage (3.56% VS 9.92%, P<0.001) and the mean number of acid reflux episodes (36.9 VS 139.9, P=0.001) were lower, and the mean rest pressure at lower esophageal sphincter (LES) (25.19 mmHg VS 13.63 mmHg, P<0.001) and the mean distal contractile integral (1 819.15 mmHg·s·cm VS 1 007.67 mmHg·s·cm, P<0.001) were significantly increased compared with those before surgery. ARMS has significant short-term efficacy in the treatment of proton pump inhibitor dependent GERD, which can effectively improve reflux symptoms and life quality of patients, and strengthen the rest pressure of LES and peristalsis of the esophageal body.

Idiopathic pulmonary fibrosis (IPF) is a progressive disease with unknown etiology and limited therapeutic options. Activation of fibroblasts is a prominent feature of pulmonary fibrosis. Here we report that lncRNA DACH1 (dachshund homolog 1) is downregulated in the lungs of IPF patients and in an experimental mouse model of lung fibrosis. LncDACH1 knockout mice develop spontaneous pulmonary fibrosis, whereas overexpression of LncDACH1 attenuated TGF-β1-induced aberrant activation, collagen deposition and differentiation of mouse lung fibroblasts. Similarly, forced expression of LncDACH1 not only prevented bleomycin (BLM)-induced lung fibrosis, but also reversed established lung fibrosis in a BLM model. Mechanistically, LncDACH1 binding to the serine/arginine-rich splicing factor 1 (SRSF1) protein decreases its activity and inhibits the accumulation of Ctnnb1. Enhanced expression of SRSF1 blocked the anti-fibrotic effect of LncDACH1 in lung fibroblasts. Furthermore, loss of LncDACH1 promoted proliferation, differentiation, and extracellular matrix (ECM) deposition in mouse lung fibroblasts, whereas such effects were abolished by silencing of Ctnnb1. In addition, a conserved fragment of LncDACH1 alleviated hyperproliferation, ECM deposition and differentiation of MRC-5 cells driven by TGF-β1. Collectively, LncDACH1 inhibits lung fibrosis by interacting with SRSF1 to suppress CTNNB1 accumulation, suggesting that LncDACH1 might be a potential therapeutic target for pulmonary fibrosis.

Objective : To investigate the interaction between intracellular chloride ion protein 1(CLIC1) and activated protein kinase C receptor 1 ( RACK1) . Methods : Plasmids pcDNA3. 1⁃RACK1⁃HA and/or pcDNA3. 1 ⁃CLIC1⁃FLAG were transfected into HEK 293T cells, and pcDNA3. 1⁃RACK1⁃HA and/or pcDNA3. 1⁃CLIC1⁃FLAG were transfected into COS7. GST⁃pulldown and immunoprecipitation assays were performed to determine the interaction between CLIC1 and RACK1 in vivo and in vitro. The co⁃localization of CLIC1 and RACK1 was observed by indirect immunofluorescence assay. Results : Western blot confirmed that CLIC1 and RACK1 could be highly expressed in HEK 293T cells. GST⁃pulldown showed that RACK1 bound CLIC1 in vitro, and immunoprecipitation showed that CLIC1 and RACK1 interacted in vivo. Furthermore, indirect immunofluorescence assay showed CLIC1 co⁃localized with RACK1 . Conclusion Human CLIC1 protein interacts with RACK1 in vitro and in vivo.

Objective The objective of this study was to investigate the relationship between the methylation of phosphodies-terase 4C(PDE4C)gene in peripheral blood leukocytes,and its interaction with environmental factors and the pathogenesis of breast cancer. Methods A case-control study was conducted to select 402 cases of breast cancer and 470 cancer-free controls from Octo-ber 2010 to December 2014. The specific DNA methylation-modified quantitative PCR method was used to detect the methylation of PDE4C gene. The use of crossover analysis and multivariate logistic regression was used to analyze the relationship between the level of gene methylation and its interaction with environmental factors and the pathogenesis of breast cancer. Results PDE4C methylation was not found to be significantly associated with the onset of breast cancer. High-frequency/high-intake of whole grains,vegetables, onion-based plants,poultry,milk,and regular exercise could reduce the risk of breast cancer;high-frequency/high-intake of pork, irregular menstrual cycle,and a high psychological stress index could increase the risk of breast cancer. PDE4C hypermethylation had a significant combining effect with edible onion-producing plants greater than 3 times/week,with an OR of 0. 373(95% CI:0. 208~0. 668,P=0. 001). Conclusion Hypermethylation of PDE4C is not an independent risk factor for breast cancer,and its combination with environmental factors affects the risk of breast cancer.

Objective To analyze of the effect of artificial lengthening femoral head replacement in elderly patients with stage Ⅰ of unstable femoral intertrochanteric fracture.Methods 203 patients with stage Ⅰ of unstable femoral intertrochanteric fracture were selected as the research object,and they were taken artificial lengthening femoral head replacement,among which 65caese were male,female in 138 cases.The Harris scoring,SF-36,VAS pain scores on admission,2 weeks after operation,postoperative follow-up limb were counted,and the pain of the affected limb and the hip scores were compared amond 3 time periods.Results All 203 cases of senile patients with follow-up,average operation time was 83.64 minutes,the intraoperative blood loss was 355.41mL.The curative effect was evaluated according to the Harris score,SF-36 and VAS pain scoring criteria,and the Harris scores of the affected limbs at admission,at 2 weeks after the operation and after the follow-up were (28.26 ± 5.50) points,(68.26 ±5.50) points,(93.13 ± 5.31) points,respectively,the differences were statistically significant (t =-71.27,-1 397.55,-46.07,all P ＜ 0.01);The VAS pain scores were (8.19 ± 0.48) points,(3.53 ± 0.71) points,(0.23 ± 0.42) points,respectively,the differences were statistically significant (t =88.06,324.17,60.84,all P ＜ 0.01).The sf-36 scores:physiological [(8.35 ± 1.24) points,(15.23 ± 2.17) points,(19.21 ± 2.12) points],social/family [(7.01 ±1.13) points,(14.12 ± 2.12) points,(19.85 ± 2.24) points],emotional [(4.83 ± 1.01) points,(10.12 ±1.22)points,(14.87 ± 1.32) points],function [(6.35 ± 1.21) points,(13.67 ± 1.87) points,(16.81 ±2.12) points],additional focus [(8.85 ± 1.45) points,(16.38 ± 2.12) points,(20.21 ± 2.42) points],total quality of life [(47.35 ± 4.76) points,(74.69 ± 5.87) points,(89.21 ± 6.12) points],the differences were statistically significant(-39.77,-62.92,-20.21,-44.87,-71.89,-26.79,-45.04,-89.01,-38.25,-45.79,-63.41,-15.29,-45.20,-60.39,-17.54,-52.12,-76.49,-22.58,all P＜0.O1).Conclusion Artificial lengthening femoral head replacement in elderly patients with stage Ⅰ of unstable femoral intertrochanteric fracture has good clinical effect,intraoperative high safety,less postoperative complications,postoperative limb functional recovery is good,and it is worthy of clinical promotion and application.