1.Loss-of-function MAVS mutation causes antiviral immunodeficiency:unveiling a novel mechanism linking viral infection to generalized pustular psoriasis in children
Yanan SUN ; Jiahong ZHOU ; Yaqin LIU ; Juan YANG ; Shasha MENG ; Hongmei LI ; Weihui ZHOU
Journal of Army Medical University 2025;47(23):2953-2962
Objective To investigate the role of mitochondrial antiviral signaling protein(MAVS)in viral infection-triggered generalized pustular psoriasis(GPP)in children.Methods This retrospective case-control study enrolled 80 GPP patients aged 0~18 years from Children's Hospital of Chongqing Medical University(from October 2013 to April 2019).Whole-exome sequencing identified rare MAVS variants associated with GPP.Pathogenicity of variants was predicted using Mutation Taster,Disease Association,SIFT,and CADD bioinformatics tools.Sanger sequencing validated variants,followed by construction of wild-type(WT)and mutant MAVS expression plasmids transfected into HEK 293 cells.Protein expression was assessed by Western blot.Dual-luciferase reporter gene assays measured IFNB1 and NF-κB transcriptional activity.Genotype distribution of the MAVS c.171dupT/p.H57fs variant was analyzed using Fisher's exact test.Results This study enrolled 80 pediatric GPP patients(aged 0~18 years).Whole-exome sequencing identified five rare MAVS variants,with bioinformatics analyses predicting deleterious effects on protein stability and function.Western blot demonstrated that the c.171dupT mutation in GPP patients significantly reduced full-length MAVS expression(P<0.001);dual-luciferase assays further revealed this variant impaired MAVS-mediated IFNB1 transcriptional activation by 85%(P<0.001),abrogated NF-κB signaling pathway activation(P<0.001),but exhibited no dominant-negative effect on wild-type MAVS function(P>0.05).Conclusion The MAVS c.171dupT frameshift variant may contribute to infection-triggered GPP in children,suggesting its potential as a genetic biomarker for GPP susceptibility.
2.Efficacy of two surgical approaches in patients with CSOM at stationary phase with soft tissue shadow of mastoid mullae
Shasha SUN ; Hongbing YU ; Wugen LUO
Chinese Archives of Otolaryngology-Head and Neck Surgery 2025;32(3):153-157
OBJECTIVE To clarify the hearing improvement and tympanic membrane healing of tympanoplasty in patients with chronic suppurative otitis media in the stationary phase with soft tissue shadow of mastoid bulla on mastoid CT,and to compare its hearing improvement and tympanic membrane healing with that of canal wall up mastoidectomy+tympanoplasty.METHODS A retrospective analysis was conducted on clinical data of inpatient surgical cases diagnosed with chronic suppurative otitis media in the stationary phase with soft tissue shadow of mastoid bulla by preoperative mastoid CT at the Department of Otolaryngology Head and Neck Surgery,the First Affiliated Hospital of Nanchang University between September 2020 and April 2022.Patients were divided into two groups based on the surgical procedure:Group A,tympanoplasty,including 23 cases of type Ⅰ tympanoplasty(A1)and 26 cases of type Ⅱ tympanoplasty with ossicular chain reconstruction(A2);Group B,canal wall up mastoidectomy+tympanoplasty,including 21 cases of canal wall up mastoidectomy with type Ⅰ tympanoplasty(B1)and 20 cases of canal wall up mastoidectomy with type Ⅱ tympanoplasty and ossicular chain reconstruction(B2).Each patient was followed up for one year postoperatively,and at approximately one year after the operation,otoscopy and pure-tone audiometry(PTA)and air-bone gap(ABG)measurements at four frequencies(500,1 000,2 000,and 4 000 Hz)were performed and compared to preoperative values.RESULTS The average PTA at 1 year postoperatively for group A(A1 and A2)and group B(B1 and B2)were(36.35±16.21)dB HL[(31.96±11.78)dB HL,(40.24±18.68)dB HL]and(35.85±12.19)dB HL[(40.24±18.68)dB HL,(39.69±13.69)dB HL],respectively.Compared with preoperative PTA,the difference was statistically significant with P<0.05.The average ABG at 1 year postoperatively for group A and group B were(16.07±6.69)dB HL[(15.16±5.48)dB HL,(16.88±7.63)dB HL]and(15.21±6.40)dB HL[(13.93±5.29)dB HL,(16.56±7.28)dB HL],respectively.Compared with preoperative ABG,the difference was statistically significant with P<0.05.There was no statistically significant difference in postoperative average PTA and ABG between group A and group B.There was no statistically significant difference in effective rate between group A and group B.The results of ear endoscopy at 1 year postoperatively showed that the tympanic membrane healed well in both group A and group B.CONCLUSION There is no significant difference in hearing improvement and tympanic membrane healing between the two surgical procedures of tympanoplasty and canal wall up mastoidectomy+tympanoplasty for patients with CSOM at rest with shadowing of the mastoid sinus on mastoid CT.In clinical work,patients with CSOM at rest who have soft tissue shadow in the mastoid sinus on mastoid CT can opt for simple tympanoplasty.
3.Demand for follow-up care services after outpatient surgery for patients
Lingling WANG ; Baolan MA ; Chao SUN ; Shasha CHEN ; Wenni SUN ; Wenjuan ZHU
Journal of Navy Medicine 2025;46(11):1099-1102
Objective To investigate the demand for postoperative follow-up care services among patients after outpatient surgery,to optimize the care service process,and to enhance the quality of outpatient care,so as to ensure timely and effective follow-up care after outpatient surgery and improve their satisfaction and rehabilitation outcomes.Methods A total of 156 patients who underwent outpatient surgical procedures at Navy 971 Hospital from January 2023 to December 2023 were enrolled as research subjects through convenient sampling.A self-designed questionnaire was used to investigate the general information of patients,their demand for postoperative follow-up care,and the recognition of follow-up care forms.The questionnaires were distributed and collected by professional personnel of the outpatient surgery room.The related service items of follow-up care were statistically analyzed using percentages and descriptive analysis.Results Of the 156 questionnaires distributed,all(100%)were returned and valid.Among the patients undergoing outpatient surgery,91.7%required follow-up care services.The follow-up care services with the highest demand among naval vessel personnel were self-observation and care guidance for wounds(90.4%),seeking help for wound discomfort(86.5%),and postoperative follow-up and health education(75.6%).The most recognized forms of follow-up care services were telephone follow-up(88.5%),remote consultation(76.3%),and on-site visits by medical teams(62.2%).Conclusion There is a high demand for follow-up care services among patients after outpatient surgery.Hospitals should establish a complete follow-up care service model and care teams based on the actual needs of patients and the requirements of health education,and formulate personalized follow-up care plans.
4.Epidemiological survey and influencing factors of overweight and obesity among preschool children in Suzhou
Shasha DENG ; Yumei MENG ; Rongbo SUN ; Lingling SHEN ; Rui KONG
Chinese Journal of Child Health Care 2024;32(4):389-394
【Objective】 To investigate the prevalence and influencing factors of overweight and obesity among preschool children in Suzhou. 【Methods】 A stratified cluster random sampling method was used to select 24 452 children aged 3 - 6 years in different districts of Suzhou from December 2021 to June 2022. Then the prevalence rate of overweight and obesity was determined by physical measurements. A case-control study was conducted with a questionnaire survey of 3 786 children(1 893 in the obesity group and 1 893 in the control group) to analyze the factors influencing preschool obesity. 【Results】 1) The overall detection rates of overweight among preschool children in Suzhou was 14.8%(boys 14.6%, girls 15.0%). The overall detection rates of obesity was 7.9%(boys 8.7%, girls 7.1%), with a statistically significant difference between boys and girls(χ2=19.828, P<0.01). 2) There was statistically significant difference in the detection rates of obesity among different age groups(χ2=98.415, P<0.01), with the lowest rate in the 3 - 4 years old group(5.8%) and the highest rate in the 6 - 7 years old group(11.8%). 3) The overall detection rates of mild, moderate and severe obesity was 4.8%, 2.6% and 0.5%, respectively. The proportion of moderate and severe obesity significantly increased with age(χ2=57.275, P<0.01). 4) Risk factors for preschool obesity included birth weight >4 000g, cesarean section, parental overweight/obesity, strong appetite of children, eating speed <10min/meal, high frequency of fried food consumption(>1time/week), eating while watching television, sedentary behavior >2h/d, insufficient exercise endurance, screen time >1h/d, and late bedtime(after 21∶30)(P<0.05). Protective factors for preschool obesity included larger breakfast consumption, fruits and vegetables as regular snacks, and physical activity after meals(P<0.05). 5) Factors influencing the degree of preschool obesity included paternal overweight(OR=1.33, 95%CI:1.06 - 1.65), paternal obesity(OR=1.91, 95%CI:1.46 - 2.49), maternal overweight(OR=1.25, 95%CI:1.01 - 1.54), maternal obesity(OR=1.94, 95%CI:1.40 - 2.69), low education level of father(junior high school or below)(OR=1.57, 95%CI:1.25 - 1.96), strong appetite of children(OR=1.72, 95%CI:1.41 - 2.11), eating speed <10min/meal(OR=1.29, 95%CI:1.05 - 1.57), sedentary behavior >2h/d(OR=1.51, 95%CI:1.24 - 1.85), insufficient exercise endurance(OR=1.56, 95%CI:1.12 - 2.19), and screen time>1h/d(OR=1.42, 95%CI:1.16 - 1.75). 【Conclusions】 The detection rates of overweight and obesity among preschool children in Suzhou are relatively high, and the detection rate and severity of obesity increase with age. In addition to genetic factors, preschool obesity are also associated with pregnancy and birth history, as well as unhealthy lifestyle after birth.
5.Longitudinal extrauterine growth restriction in extremely preterm infants: current status and prediction model
Xiaofang HUANG ; Qi FENG ; Shuaijun LI ; Xiuying TIAN ; Yong JI ; Ying ZHOU ; Bo TIAN ; Yuemei LI ; Wei GUO ; Shufen ZHAI ; Haiying HE ; Xia LIU ; Rongxiu ZHENG ; Shasha FAN ; Li MA ; Hongyun WANG ; Xiaoying WANG ; Shanyamei HUANG ; Jinyu LI ; Hua XIE ; Xiaoxiang LI ; Pingping ZHANG ; Hua MEI ; Yanju HU ; Ming YANG ; Lu CHEN ; Yajing LI ; Xiaohong GU ; Shengshun QUE ; Xiaoxian YAN ; Haijuan WANG ; Lixia SUN ; Liang ZHANG ; Jiuye GUO
Chinese Journal of Neonatology 2024;39(3):136-144
Objective:To study the current status of longitudinal extrauterine growth restriction (EUGR) in extremely preterm infants (EPIs) and to develop a prediction model based on clinical data from multiple NICUs.Methods:From January 2017 to December 2018, EPIs admitted to 32 NICUs in North China were retrospectively studied. Their general conditions, nutritional support, complications during hospitalization and weight changes were reviewed. Weight loss between birth and discharge > 1SD was defined as longitudinal EUGR. The EPIs were assigned into longitudinal EUGR group and non-EUGR group and their nutritional support and weight changes were compared. The EPIs were randomly assigned into the training dataset and the validation dataset with a ratio of 7∶3. Univariate Cox regression analysis and multiple regression analysis were used in the training dataset to select the independent predictive factors. The best-fitting Nomogram model predicting longitudinal EUGR was established based on Akaike Information Criterion. The model was evaluated for discrimination efficacy, calibration and clinical decision curve analysis.Results:A total of 436 EPIs were included in this study, with a mean gestational age of (26.9±0.9) weeks and a birth weight of (989±171) g. The incidence of longitudinal EUGR was 82.3%(359/436). Seven variables (birth weight Z-score, weight loss, weight growth velocity, the proportion of breast milk ≥75% within 3 d before discharge, invasive mechanical ventilation ≥7 d, maternal antenatal corticosteroids use and bronchopulmonary dysplasia) were selected to establish the prediction model. The area under the receiver operating characteristic curve of the training dataset and the validation dataset were 0.870 (95% CI 0.820-0.920) and 0.879 (95% CI 0.815-0.942), suggesting good discrimination efficacy. The calibration curve indicated a good fit of the model ( P>0.05). The decision curve analysis showed positive net benefits at all thresholds. Conclusions:Currently, EPIs have a high incidence of longitudinal EUGR. The prediction model is helpful for early identification and intervention for EPIs with higher risks of longitudinal EUGR. It is necessary to expand the sample size and conduct prospective studies to optimize and validate the prediction model in the future.
6.Advances in non-surgical animal models of vascular cognitive impairment
Rong SUN ; Zhongnan MAO ; Xiaodong ZHI ; Xuexia SONG ; Shasha LI ; Shirui ZHANG
Acta Laboratorium Animalis Scientia Sinica 2024;32(9):1222-1232
Vascular cognitive impairment(VCI)includes a range of illnesses from mild cognitive impairment to dementia,attributable to cerebrovascular factors.Although appropriate animal models are needed to allow clinicopathological research and drug development,there are currently no animal models that can perfectly simulate the pathogenesis of VCI.At present,carotid artery and vertebral artery stenosis or occlusion are the main method for VCI modeling;however,increasing numbers of non-surgical method have recently emerged,providing new ideas and prospects for the study of this disease.In this paper,we consider the construction method,model mechanisms,and model characteristics of non-surgical animal models of VCI,to provide a reference to help researchers choose the most suitable animal model.
7.Analysis of pathological characteristics and prognosis for very low-and low-risk gastrointestinal stromal tumors
Liu SHASHA ; Sun LIN ; Li JIAXIN ; Zhao SHUAI ; Liu HUIMIN ; Liang HAN ; Sun YAN
Chinese Journal of Clinical Oncology 2024;51(11):541-546
Objective:To analyze the prognosis,clinicopathological characteristics,and genetic mutation features of patients with very low-and low-risk gastrointestinal stromal tumors(GISTs).Methods:A retrospective data collection of 433 patients with very low-and low-risk GISTs,diagnosed by pathology after surgical or endoscopic resection at Tianjin Medical University Cancer Institute&Hospital,was conduc-ted to analyze clinical pathology and prognosis.Results:Compared with low-risk GIST,a higher proportion of patients with very low-risk GIST had gastric GISTs,a Ki-67 index≤3%,and 0-1 mitotic indexes/5 mm2,whereas the proportion of patients with small intestinal GIST was low(all P<0.05).Genetic testing was performed in 118 patients,and there was no significant difference in the mutation types and KITmutation types between low-risk and very low-risk GISTs(all P>0.05).Patient follow-up was conducted on 87 very low-risk and 210 low-risk GIST pa-tients without other concurrent diseases,with a median follow-up of 86(27-158)months.None of the patients with very low-risk GISTs showed progression;three cases of low-risk GIST had recurrence or metastasis,with progression-free survival(PFS)ranging from 27 to 84 months.The mitotic indices of the primary tumors in these three patients were all 4/5 mm2,which is close to the critical value between the low-and intermediate-risk GIST mitotic indices,and all had KIT exon11 mutations.After the first progression,these three patients were treated with imatinib,and all survived until the end of follow-up,with overall survival ranging from 116 to 155 months.Conclusions:Among patients with low-risk GISTs,a very small number with high mitotic indices may have the potential for recurrence or metastasis,but after re-currence or metastasis,they can still maintain long-term,high-quality survival through targeted therapy,surgery,and other treatment meth-ods.The possibility of postoperative progression in very low-risk patients with GIST is extremely low,and the follow-up interval can be ap-propriately extended to reduce medical costs and alleviate the psychological burden on the patients and their families.
8.Clinical features and risk factors for secondary hemophagocytic lymphohistiocytosis in elderly patients with severe SARS-CoV-2 infection: a multicenter retrospective cohort study
Yunxin DENG ; Shasha LU ; Guofang ZHANG ; Wenqing SUN ; Yufeng CHU ; Mei MENG ; Yunliang CUI ; Pibao LI
Chinese Critical Care Medicine 2023;35(8):793-799
Objective:To explore the incidence of secondary hemophagocytic lymphohistiocytosis (sHLH) in elderly patients with severe SARS-CoV-2 infection, and to analyze and summarize its clinical features and risk factors for early identification of high-risk groups.Methods:A retrospective cohort study was conducted. From January to May 2020, No. 960 Hospital of People's Liberation Army, the Second Hospital Affiliated to Cheeloo College of Medicine of Shandong Province, the First Rehabilitation Hospital of Shandong Province, the Public Health Clinical Center Affiliated to Shandong University, and Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine received 248 patients over 60 years old who were diagnosed with severe SARS-CoV-2 infection during their assistance to Hubei or support for diagnosis and treatment of SARS-CoV-2 infection in Shandong Province. The clinical data of patients were collected. According to the hemophagocytic lymphohistiocytosis diagnosis scoring (HScore) criteria, the patients were divided into sHLH group (HScore > 169) and non-sHLH group (HScore < 98). The demographic data, clinical features, laboratory results, the proportion of organ failure and 60-day mortality of patients were collected and compared between the two groups. The risk factors of sHLH and 60-day death were evaluated through binary multivariate Logistic regression analysis in elderly patients with severe SARS-CoV-2 infection. The receiver operator characteristic curve (ROC curve) was plotted to analyze the diagnostic value of indicators only or combined for sHLH.Results:Among 248 elderly patients with severe SARS-CoV-2 infection, 82 patients with incomplete data and untraceable clinical outcomes, and 35 patients with HScore of 98-169 were excluded. Finally, 131 patients were enrolled in the final follow-up and statistics, including 25 patients in the sHLH group and 106 patients in the non-sHLH group. Compared with the non-sHLH group, plasma albumin (ALB), hemoglobin (Hb), lymphocyte count (LYM), platelet count (PLT), fibrinogen (Fib) and prealbumin (PAB) in the sHLH group were significantly reduced, while alanine aminotransferase (ALT), aspartate aminotransferase (AST), blood urea nitrogen (BUN), MB isoenzyme of creatine kinase (CK-MB), serum creatinine (SCr), C-reactive protein (CRP), D-dimer, ferritin (Fer), lactate dehydrogenase (LDH), procalcitonin (PCT), cardiac troponin I (cTnI), triglycerides (TG), interleukin-6 (IL-6), total bilirubin (TBil) were significantly higher. The fever and fatigue in the sHLH group were more severe than those in the non-sHLH group, and the patients in the sHLH group had higher rates of shock, acute kidney injury, liver dysfunction, and cardiac injury than the non-sHLH group. The 60-day mortality of patient in the sHLH group was significantly higher than that in the non-sHLH group [84.0% (21/25) vs. 40.6% (43/106), P < 0.01]. Binary multivariate Logistic regression analysis showed that high Fer [odds ratio ( OR) = 0.997, 95% confidence interval (95% CI) was 0.996-0.998], D-dimer ( OR = 0.960, 95% CI was 0.944-0.977), LDH ( OR = 0.998, 95% CI was 0.997-0.999) and TG ( OR = 0.706, 95% CI was 0.579-0.860) were independent risk factors for sHLH in elderly patients with severe SARS-CoV-2 infection (all P < 0.01), while elevated Fer ( OR = 1.001, 95% CI was 1.001-1.002), LDH ( OR = 1.004, 95% CI was 1.002-1.005) and D-dimer ( OR = 1.036, 95% CI was 1.018-1.055) were independent risk factors for 60-day death of patients (all P < 0.01). The death risk of the sHLH patients was 7.692 times higher than that of the non-sHLH patients ( OR = 7.692, 95% CI was 2.466-23.987, P = 0.000). ROC curve analysis showed that a three-composite-index composed of LDH, D-dimer and TG had good diagnostic value for sHLH in elderly patients with severe SARS-CoV-2 infection [area under the ROC curve (AUC) = 0.920, 95% CI was 0.866-0.973, P = 0.000]. Conclusions:Elderly patients with severe SARS-CoV-2 infection complicated by sHLH tend to be critically ill and have refractory status and worse prognosis. High Fer, LDH, D-dimer and TG are independent risk factors for sHLH, and are highly suggestive of poor outcome. The comprehensive index composed of LDH, D-dimer and TG has good diagnostic value, and can be used as an early screening tool for sHLH in elderly patients with severe SARS-CoV-2 infection.
9.Frailty evaluation and risk factors for older patients with comorbidities: a cross-sectional study
Jiakun LUO ; Ruihan LIU ; Yutong LIU ; Shasha SUN ; Mingyan YANG ; Yan YU ; Bo GUAN ; Xin HUANG ; Li FAN ; Jian CAO
Chinese Journal of Geriatrics 2023;42(5):493-497
Objective:To investigate frailty in older patients with comorbidities and explore related risk factors.Methods:A cross-sectional study was conducted with an enrollment of 746 patients aged 65 years or older with comorbidities in the Wanshoulu Road area of Beijing from April 2019 to December 2020.A total of 617 patients with comorbidities were finally included, aged(85.6±4.8)years, including 358 women(58.0%); According to the FRAIL scale, 617 patients with comorbidities were divided into a frail group(156 cases, 25.3%)and a non-frail group(461 cases, 74.7%). Demographic data and information on comorbidities were collected.Univariate and multivariate Logistic regression analyses of risk factors were conducted.Results:Among 617 patients with comorbidities, the common chronic diseases in descending order were hypertension(497 cases, 80.6%), coronary heart disease(375 cases, 60.8%), osteoporosis(357 cases, 57.9%), osteoarthritis(281 cases, 45.5%), type 2 diabetes(211 cases, 34.2%), stroke and/or transient ischemic attack(193 cases, 31.3%), chronic lung disease(144 cases, 23.3%), tumor(133 cases, 21.6%), chronic kidney disease(92 cases, 14.9%), and heart failure(58 cases, 9.4%). Univariate logistic regression analysis showed that age, type 2 diabetes, coronary heart disease, heart failure, chronic lung disease, stroke/transient ischemic attack, cancer and osteoarthritis were influencing factors for frailty( P<0.05). Multivariate logistic regression analysis showed that age, type 2 diabetes, heart failure, chronic lung disease, cancer and osteoarthritis were risk factors for frailty( OR=1.076, 1.806, 3.275, 3.371, 1.640, 2.227, all P<0.05). Conclusions:Old age, type 2 diabetes, heart failure, chronic lung disease, tumor and osteoarthritis are closely related to frailty in elderly patients with comorbidities.Proactive and effective prevention and intervention should be instituted to target risk factors for frailty to reduce the occurrence of adverse outcomes.
10.Identification of Chemical Components and Blood Components of Tianmaxingnao capsules Based on UPLC-Q/TOF-MS
Yuanfang SUN ; Yu GAN ; Guanxiang CHEN ; Shasha LI ; Xue XIAO ; Congzhang ZHE ; Shikai YAN ; Huizi JIN
World Science and Technology-Modernization of Traditional Chinese Medicine 2023;25(11):3478-3496
Objective The chemical composition and blood components of Tianmaxingnao capsules were discovered and examined using UPLC-Q/TOF-MS,and the possible pharmacological substance basis was preliminarily elucidated.Methods An UPLC-Q/TOF-MS method was developed in this study to determine the chemical composition of Tianma Xingnao capsules.After administration of Tianmaxingnao capsules,gather and examine rat plasma samples to investigate the exposed components of Tianmaxingnao capsules in rats.Results A total of 195 chemical components were identified in Tianmaxingnao capsules,including phenols,triterpenoid saponins,phenylethanol glycosides,cyclic ether terpenes,lipids,and phenylpropanoids.These components include those that are typical of Gastrodia elata Bl,Pheretima,Cistanche deserticola Ma,Rehmannia glutinosa,Polygala hybrida DC,and Acorus tatarinowii.Rat plasma samples were used to identify 37 prototype components and 3 metabolites of Tianmaxingnao capsules after they were administered.Conclusion This approach is easy to use,effective,sensitive,and precise.It may be used to investigate Tianmaxingnao capsules and the components that reach the bloodstream in detail,as well as to provide a first understanding of the pharmacological basis of the capsules.This study serves as a foundation for clarifying the pharmacological basis of Tianmaxingnao capsules and holds some reference value in exposing the pharmacological mechanism of the product.

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