1.From Bedside to Molecular Diagnosis-Multidisciplinary Treatment of a Rare Case of Autoinflammatory Disease Presenting with Skin Induration and Limb Weakness
Hanhui FU ; Wenjun WANG ; Yaping LIU ; Hui YOU ; Tao WANG ; Wen ZHANG ; Xuejun ZENG ; Liying CUI ; Huijuan ZHU ; Xiuli ZHAO ; Min SHEN ; Yicheng ZHU
JOURNAL OF RARE DISEASES 2026;5(2):207-213
This article reports a rare case of autoinflammatory disease presenting initially with skin induration and swelling after trauma as the initial manifestation, followed by progressive limb weakness. The patient was a middle-aged female who developed skin induration and swelling after trauma, which gradually progressed to limb weakness, dysarthria and bilateral facial paralysis, accompanied by livedo reticularis of the lower extremities, diffuse skin induration of the limbs, and beaded subcutaneous nodules in the right upper limb. The patient had a susceptibility to infection since childhood and a history of chronic livedo reticularis. Skin pathological examination revealed panniculitis. A comprehensive etiological screening for special infections and autoimmune diseases was completed with an unremarkable results, and whole-exome sequencing showed no abnormal findings. Following a multidisciplinary discussion combined with RNA sequencing results, the patient was diagnosed with an autoinflammatory disease, with a suspected type Ⅰ interferonopathy. Treatment with tofacitinib resulted in gradual improvement of clinical symptoms. This case highlights the importance of detailed medical history collection, systematic physical examination and multidisciplinary collaborative diagnosis and treatment, and underscores the pivotal role of molecular diagnosis in the confirmation of rare diseases. It can provide a reference for the clinical diagnosis and management of similar rare cases.
2.Clinical application of transparent cap-assisted peroral cholangiopancreatoscopy-guided electrohydraulic lithotripsy for large common bile duct stones
Liying TAO ; Hongguang WANG ; Qingmei GUO ; Chong PANG ; Yundong SHI ; Sijie GUO ; Tianjiao JIA ; Yan CHEN ; Jiani ZHOU ; Shu CHE
Journal of Clinical Hepatology 2026;42(8):1902-1907
ObjectiveTo investigate the safety and efficacy of transparent cap-assisted peroral cholangiopancreatoscopy-guided electrohydraulic lithotripsy (EHL). MethodsA retrospective analysis was performed for the clinical data of 60 patients with large common bile duct stones who were admitted to Department of Gastroenterology, Jilin People’s Hospital, from May 1, 2023 to January 31, 2026, and according to the treatment method, the patients were divided into transparent cap-assisted peroral cholangiopancreatoscopy-guided electrohydraulic lithotripsy group and peroral cholangiopancreatoscopy-guided electrohydraulic lithotripsy group, with 30 patients in each group. The two groups were compared in terms of the rate of successful single-session stone fragmentation and removal, procedural time, duration of electrohydraulic lithotripsy, clinical success rate, and complications. The independent-samples t test or the Mann-Whitney U test was used for comparison of continuous data between two groups, and the chi-square test or the Fisher’s exact test was used for comparison of categorical data between two groups. ResultsCompared with the peroral cholangiopancreatoscopy-guided electrohydraulic lithotripsy group, the transparent cap-assisted peroral cholangiopancreatoscopy-guided electrohydraulic lithotripsy group had a significantly higher technical success rate (83.33% vs 60.00%, χ2=4.022, P=0.045) and significantly shorter procedural time [46.00 (42.25 — 49.00) min vs 54.50 (42.00 — 65.00) min, Z=2.012, P=0.044] and duration of electrohydraulic lithotripsy [8.00 (6.25 — 11.75) min vs 13.50 (9.25 — 17.75) min, Z=2.749, P=0.006]. Both groups achieved a clinical success rate of 100%, with no significant difference in the incidence rate of complications (P>0.05). ConclusionTransparent cap-assisted peroral cholangiopancreatoscopy-guided electrohydraulic lithotripsy has a high rate of successful single-session stone fragmentation and removal and a short procedural time, with good safety and efficacy, and therefore, it holds promise for clinical application.
3.High-dose daptomycin as salvage therapy for staphylococcal left-sided infective endocarditis: a retrospective analysis of 14 cases
Liying ZHU ; Wenjing WANG ; Zhen TAO
Chinese Journal of Clinical Infectious Diseases 2025;18(3):199-203
Objective:To evaluate the clinical efficacy of high-dose daptomycin as salvage therapy for staphylococcal left-sided infective endocarditis(IE).Methods:A retrospective analysis was conducted on 14 patients with staphylococcal left-sided IE who received high-dose daptomycin(≥8 mg·kg?1·d?1)as salvage therapy at Nanjing First Hospital between November 2016 and February 2022. Data on clinical characteristics,laboratory and imaging findings,treatment regimens,and outcomes were analyzed using descriptive statistics.Results:Among the 14 patients,9 had prosthetic valve endocarditis. Echocardiographic findings included vegetations( n=9),paravalvular leakage( n=6),and paravalvular abscesses( n=2);4 patients had ≥2 valvular lesions. Pathogens were methicillin-resistant Staphylococcus aureus(MRSA, n=3),methicillin-sensitive Staphylococcus aureus(MSSA, n=2),and methicillin-resistant coagulase-negative Staphylococcus(MRCNS, n=9). Clinical treatment success was achieved in 8 patients. Treatment failure occurred in 6 patients,including 2 deaths,one discontinued medication due to hypersensitivity reaction and one discontinued medication due to elevated creatine phosphokinase(CK)levels. Conclusion:High-dose daptomycin demonstrates moderate efficacy as salvage therapy for staphylococcal left-sided IE. However,adverse reactions,including hypersensitivity and elevated CK levels,necessitate vigilant clinical monitoring.
4.Analysis of the diagnostic and therapeutic value of single-use mother-baby choledochoscope-assisted endoscopic retrograde appendicitis therapy for the acute uncomplicated appendicitis
Sijie GUO ; Hongguang WANG ; Liying TAO ; Qingmei GUO ; Xiang GUO ; Lianyu PIAO ; Jiwei ZHANG ; Lin LIU
China Journal of Endoscopy 2025;31(11):55-61
Objective To investigate the diagnostic and therapeutic value of single-use mother-baby choledochoscope-assisted endoscopic retrograde appendicitis therapy in the treatment of acute uncomplicated appendicitis.Methods A retrospective analysis was conducted on the clinical data of 39 patients with acute uncomplicated appendicitis who underwent single-use mother-baby choledochoscope-assisted endoscopic retrograde appendicitis treatment at the Endoscopy center of the hospital from September 2022 to September 2024.Observe the endoscopic manifestations,the rate of maternal and child basket stone removal,the rate of appendiceal stent implantation,the technical success rate,the clinical success rate,the operation time,the hospital stay,the incidence of complications,the visual analogue scale(VAS)score 6 hours after the operation,and the inflammatory indicators 24 hours after the operation.Results In 28 cases(71.8%),congestion and edema could be seen at the opening of the appendix under colonoscopy.In 10 cases(25.6%),pus could be seen flowing out of the opening of the appendix under colonoscopy.In 32 cases(82.1%),a large amount of pus could be seen in the lumen of the appendix under subscopy.In 20 cases(51.3%),appendiceal fecalith could be seen in the lumen of the appendix under subscopy.The technical success rate of single-use mother-baby choledochoscope-assisted endoscopic retrograde appendicitis treatment was 100.0%(39/39).The operation time was(21.08±7.49)min;Hospital stay:(3.97±2.08)days;Eight cases(20.5%)of patients underwent endoscopic maternal basket stone removal.Appendiceal stent implantation was performed in 14 cases(35.9%)of patients.The clinical success rate is 97.4%(38/39).One patient's clinical symptoms and inflammatory indicators did not improve after the operation,and was transferred to the surgery department for appendectomy.The VAS score of 38 patients was less than 3 points 6 hours after the operation,and the abdominal pain symptoms were significantly relieved.The white blood cell count and the percentage of neutrophils 24 hours after the operation decreased significantly compared with those before the operation,and the differences were statistically significant(P<0.05).None of the 39 patients had complications.The postoperative follow-up was(5.94±4.03)months,and recurrence occurred in 3 cases(7.7%).Conclusion single-use mother-baby choledocoscope-assisted endoscopic retrograde appendicitis therapy is safe and effective in the diagnosis and treatment of acute uncomplicated appendicitis,which is worthy of further promotion and popularization in clinical practice.
5.The relationship between family function and anxiety/depression among medical college students:the mediating role of loneliness
Ying FENG ; Yujing TAO ; Haoqi LI ; Ting YU ; Weiwei CHANG ; Liying WEN
Journal of Shenyang Medical College 2025;27(4):359-363
Objective:To explore the relationship between medical students'family function and anxiety/depression,and the mediating role of loneliness in this relationship.Methods:A total of 577 medical students were surveyed using stratified cluster sampling.Questionnaires assessed family function,loneliness,anxiety,and depression.Spearman correlation analysis was used to examine the relationships among family function,loneliness,anxiety,and depression.The mediating effects were tested using SPSS 26.0 PROCESS program model 4.Results:Medical students'family function,loneliness,anxiety,and depression scores were 8.00(5.00,10.00),16.00(12.00,19.00),3.00(2.00,4.00),and 3.00(2.00,4.00),respectively.Spearman correlation analysis showed that family function was negatively correlated with loneliness(r=-0.337),anxiety(r=-0.237),and depression(r=-0.257)(all P<0.01).Loneliness was positively correlated with anxiety(r=0.394)and depression(r=0.392)(both P<0.01).Anxiety was positively correlated with depression(r=0.746,P<0.01).Family function negatively predicted anxiety(β=-0.118,P<0.01),depression(β=-0.105,P<0.01),and loneliness(β=-0.322,P<0.01).Loneliness positively predicted anxiety(β=0.348,P<0.01)and depression(β=0.346,P<0.01).Loneliness played a partial mediating role in the relationship of family function with anxiety and depression among medical students,with mediating effects of 49.0%and 43.2%,respectively.Conclusions:Family function not only directly affects medical students'anxiety and depression but also indirectly affects them by influencing loneliness.Therefore,improving medical students'family function can effectively reduce their loneliness,thereby helping to alleviate anxiety and depression.
6.Analysis of the diagnostic and therapeutic value of single-use mother-baby choledochoscope-assisted endoscopic retrograde appendicitis therapy for the acute uncomplicated appendicitis
Sijie GUO ; Hongguang WANG ; Liying TAO ; Qingmei GUO ; Xiang GUO ; Lianyu PIAO ; Jiwei ZHANG ; Lin LIU
China Journal of Endoscopy 2025;31(11):55-61
Objective To investigate the diagnostic and therapeutic value of single-use mother-baby choledochoscope-assisted endoscopic retrograde appendicitis therapy in the treatment of acute uncomplicated appendicitis.Methods A retrospective analysis was conducted on the clinical data of 39 patients with acute uncomplicated appendicitis who underwent single-use mother-baby choledochoscope-assisted endoscopic retrograde appendicitis treatment at the Endoscopy center of the hospital from September 2022 to September 2024.Observe the endoscopic manifestations,the rate of maternal and child basket stone removal,the rate of appendiceal stent implantation,the technical success rate,the clinical success rate,the operation time,the hospital stay,the incidence of complications,the visual analogue scale(VAS)score 6 hours after the operation,and the inflammatory indicators 24 hours after the operation.Results In 28 cases(71.8%),congestion and edema could be seen at the opening of the appendix under colonoscopy.In 10 cases(25.6%),pus could be seen flowing out of the opening of the appendix under colonoscopy.In 32 cases(82.1%),a large amount of pus could be seen in the lumen of the appendix under subscopy.In 20 cases(51.3%),appendiceal fecalith could be seen in the lumen of the appendix under subscopy.The technical success rate of single-use mother-baby choledochoscope-assisted endoscopic retrograde appendicitis treatment was 100.0%(39/39).The operation time was(21.08±7.49)min;Hospital stay:(3.97±2.08)days;Eight cases(20.5%)of patients underwent endoscopic maternal basket stone removal.Appendiceal stent implantation was performed in 14 cases(35.9%)of patients.The clinical success rate is 97.4%(38/39).One patient's clinical symptoms and inflammatory indicators did not improve after the operation,and was transferred to the surgery department for appendectomy.The VAS score of 38 patients was less than 3 points 6 hours after the operation,and the abdominal pain symptoms were significantly relieved.The white blood cell count and the percentage of neutrophils 24 hours after the operation decreased significantly compared with those before the operation,and the differences were statistically significant(P<0.05).None of the 39 patients had complications.The postoperative follow-up was(5.94±4.03)months,and recurrence occurred in 3 cases(7.7%).Conclusion single-use mother-baby choledocoscope-assisted endoscopic retrograde appendicitis therapy is safe and effective in the diagnosis and treatment of acute uncomplicated appendicitis,which is worthy of further promotion and popularization in clinical practice.
7.The effect of interaction between body mass index and gender on the survival of advanced gastric cancer after immunotherapy
Tao CHEN ; Xin TAN ; Fengping LI ; Liying ZHAO ; Guoxin LI ; Hao LIU
Chinese Journal of Digestive Surgery 2025;24(3):374-381
Objective:To investigate the effect of interaction between body mass index (BMI) and gender on the survival of advanced gastric cancer after immunotherapy.Methods:The retrospective cohort study was conducted. The clinicopathological data of 317 patients with advanced gastric cancer who were admitted to the Nanfang Hospital, Southern Medical University from November 2019 to October 2023 were collected. There were 205 males and 112 females, aged 56 (range, 21-79)years. All 317 patients were divided into three groups based on BMI of patients, including 58 cases with BMI <18.5 kg/m2 were classified as the low body mass group, 183 cases with BMI 18.5-24.0 kg/m2 were classified as the normal body mass group, and 76 cases with BMI >24.0 kg/m2 were classified as the overweight or obese group. Patients included in the study were treated with a programmed death-ligand 1 (PD-L1) based immunotherapy regimen for 3 cycles based on their specific conditions, and further decision was made whether to undergo radical surgery or continue comprehensive treatment after evaluating the efficacy. Observation indicators: (1) clinicopathological characteristics of patients; (2) follow-up and mortality status; (3) analysis of factors affecting survival of patients with advanced gastric cancer after immunotherapy. Comparison of measurement data with normal distribution among groups was conducted using the ANOVA. Comparison of measurement data with skewed distribution among groups was conducted using the Kruskal-Wallis H test. Comparison of count data among groups was conducted using the chi-square test. The Cox proportional hazard model was used for univariate and multivariate analyses. Nonlinear trend was analyzed using the restricted cubic spline (RCS) curve, and trend and correction graphs were created using the rcssci package (v1.0). Results:(1) Clinicopathological characteristics of patients. There was no significant difference in gender, age, Borrmann classification, Lauren classification, combined positive score of PD-L1, expression of human epidermal growth factor receptor 2, Epstein-Barr virus infection, carcino-embryonic antigen, CA19-9, CA72-4, alpha-fetoprotein, conversion surgery among the 3 groups of patients ( P>0.05), and there was a significant difference in mismatch repair combined with micro-satellite stability among the 3 groups of patients ( P<0.05). (2) Follow-up and mortality status. Of the 317 patients, 316 cases completed follow-up and 1 case in the overweight or obese group was lost to follow-up. The follow-up time of the 316 cases was 13.8(range, 0.9-48.2)months. During the follow-up, the number of death in the low body mass group, normal body mass group and overweight or obese group were 27, 70 and 31, respectively. (3) Analysis of factors affecting survival of patients with advanced gastric cancer after immunotherapy. Results of multivariate analysis showed that gender and BMI were independent factors affecting survival of patients with advanced gastric cancer after immunotherapy ( hazard ratio=0.066, 0.922, 95% confidence interval as 0.005-0.846, 0.855-0.994, P<0.05). Results of further analysis showed that the interaction between BMI and gender was an independent factor affecting survival of patients with advanced gastric cancer after immuno-therapy ( hazard ratio=1.152, 95% confidence interval as 1.024-1.296, P<0.05). Results of Cox regre-ssion analysis based on different gender showed that took patients of the normal body mass group as a reference, the male patients of the low body mass group had a significantly increased risk of death, showing a significant statistically difference ( hazard ratio=1.809, 95% confidence interval as 1.037-3.155, P<0.05). Results of RCS curve analysis showed that there was a non-linear correlation between BMI and survival of patients with advanced gastric cancer after immunotherapy ( P<0.05). Results of corrected RCS curve analysis using the rcssci package showed that there was a U-shaped relationship between BMI and survival of patients with advanced gastric cancer after immuno-therapy ( P<0.05), with the optimal cut-off value of BMI as 22.2 kg/m 2. Results of RCS curve analysis based on different gender showed that there was a U-shaped relationship between BMI and survival of male patients with advanced gastric cancer after immunotherapy ( P<0.05), with the optimal cut-off value of BMI as 22.7 kg/m 2. Conclusions:Gender, BMI and the interaction between BMI and gender are independent factors affecting survival of patients with advanced gastric cancer after immuno-therapy. There is a U-shaped relationship between BMI and survival of patients, with the optimal cut-off value of BMI as 22.2 kg/m 2, and there is a U-shaped relationship between BMI and survival of male patients, with the optimal cut-off value of BMI as 22.7 kg/m 2.
8.The relationship between family function and anxiety/depression among medical college students:the mediating role of loneliness
Ying FENG ; Yujing TAO ; Haoqi LI ; Ting YU ; Weiwei CHANG ; Liying WEN
Journal of Shenyang Medical College 2025;27(4):359-363
Objective:To explore the relationship between medical students'family function and anxiety/depression,and the mediating role of loneliness in this relationship.Methods:A total of 577 medical students were surveyed using stratified cluster sampling.Questionnaires assessed family function,loneliness,anxiety,and depression.Spearman correlation analysis was used to examine the relationships among family function,loneliness,anxiety,and depression.The mediating effects were tested using SPSS 26.0 PROCESS program model 4.Results:Medical students'family function,loneliness,anxiety,and depression scores were 8.00(5.00,10.00),16.00(12.00,19.00),3.00(2.00,4.00),and 3.00(2.00,4.00),respectively.Spearman correlation analysis showed that family function was negatively correlated with loneliness(r=-0.337),anxiety(r=-0.237),and depression(r=-0.257)(all P<0.01).Loneliness was positively correlated with anxiety(r=0.394)and depression(r=0.392)(both P<0.01).Anxiety was positively correlated with depression(r=0.746,P<0.01).Family function negatively predicted anxiety(β=-0.118,P<0.01),depression(β=-0.105,P<0.01),and loneliness(β=-0.322,P<0.01).Loneliness positively predicted anxiety(β=0.348,P<0.01)and depression(β=0.346,P<0.01).Loneliness played a partial mediating role in the relationship of family function with anxiety and depression among medical students,with mediating effects of 49.0%and 43.2%,respectively.Conclusions:Family function not only directly affects medical students'anxiety and depression but also indirectly affects them by influencing loneliness.Therefore,improving medical students'family function can effectively reduce their loneliness,thereby helping to alleviate anxiety and depression.
9.Efficacy and safety of endoscopic retrograde cholangiopancreatography combined with oral cholangiopancreatography in the treatment of duodenal papilla cholecystectomy
Liying TAO ; Hongguang WANG ; Qingmei GUO ; Xiang GUO ; Lianyu PIAO ; Muyu YANG ; Yong YU ; Libin RUAN ; Jianbin GU ; Si CHEN ; Yingting DU ; Xiuying GAI ; Sijie GUO
Journal of Clinical Hepatology 2025;41(3):513-517
ObjectiveTo investigate the feasibility and safety of endoscopic retrograde cholangiopancreatography (ERCP) combined with oral cholangiopancreatography in the treatment of major duodenal papilla gallbladder polyps. MethodsA retrospective analysis was performed for the clinical data of eight patients with choledocholithiasis and gallbladder polyps who underwent ERCP and combined with oral cholangiopancreatography for major duodenal papilla cholecystectomy in Center of Digestive Endoscopy, Jilin People’s Hospital, from May 2022 to June 2024, and related data were collected, including the success rate of surgery, the technical success rate of gallbladder polyp removal, the superselective method of cystic duct, the time of operation, the time of gallbladder polyp removal, and surgical complications. ResultsBoth the success rate of surgery and the technical success rate of gallbladder polyp removal reached 100%, and of all eight patients, three patients used guide wire to enter the gallbladder under direct view, while five patients received oral cholangiopancreatography to directly enter the gallbladder. The time of operation was 51.88±12.34 minutes, and the time of gallbladder polyp removal was 23.13±10.94 minutes. The diameter of gallbladder polyp was 2 — 8 mm, and pathological examination showed inflammatory polyps in three patients, adenomatous polyps in one patient, and cholesterol polyps in four patients. There were no complications during or after surgery. The patients were followed up for 2 — 27 months after surgery, and no recurrence of gallbladder polyp was observed. ConclusionOral cholangiopancreatography is technically safe and feasible in endoscopic major duodenal papilla cholecystectomy.
10.Effect of PTEN mRNA expression level in granulosa cells on follicular fluid hormone secretion in infertile patients with polycystic ovary syndrome
Jianfeng YAO ; Peiya WU ; Liying CHEN ; Yanting WANG ; Youxia LING ; Xiaoyan CHEN ; Wanzhen CHEN ; Ping TAO ; Rongfu HUANG ; Youzhu LI
Journal of Jilin University(Medicine Edition) 2025;51(1):164-171
Objective:To detect the levels of sex hormones and insulin in follicular fluid(FF)and the expression level of phosphatase and tensin homolog deleted on chromosome ten(PTEN)in granulosa cells in the infertile patients with polycystic ovary syndrome(PCOS),and to preliminarily explain the correlations between the insulin level and the expression level of PTEN mRNA.Methods:Seventy infertile patients were selected as the subjects and divided into PCOS group and control group(tubal obstruction or infertility due to male factors)according to infertility factors.All patients received in vitro fertilization-embryo transfer(IVF-ET)treatment.FF and ovarian granulosa cells were collected on the day of ovulation.The expression levels of PTEN mRNA in ovarian granulosa cells of the patients in two groups were detected by real-time fluorescence quantitative PCR(RT-qPCR)method.The levels of sex hormone and insulin in FF were measured by electrochemiluminescence.The correlations of the PTEN mRNA expression level in ovarian granulosa cells and testosterone(T)in FF with the level of insulin in FF were analyzed by Spearman correlation analysis method.Results:There were no significant differences in age,infertility years,body mass index(BMI),basic sex hormone,total dose of gonadotropin(Gn)and days of ovulation induction in two groups(P>0.05).Compared with control group,the anti-Mullerian hormone(AMH)and antral follicle counting(AFC)of the patients in PCOS group were significantly increased(P<0.05).The RT-qPCR results showed that the PTEN mRNA expression level in ovarian granulosa cells of the patients in the PCOS group was higher than that in control group(P<0.001).The electrochemiluminescence results showed that the levels of T and insulin in FF of the patients in PCOS group were higher than those in control group(P<0.05),whereas the estrogen and progesterone levels were lower than those in control group(P<0.05).The Spearman correlation analysis showed that that T level in FF was positively correlated with the insulin level of the patients in PCOS group(r=0.577,P<0.001),and the PTEN mRNA expression level in ovarian granulosa cells was positively correlated with the insulin levels in FF(r=0.616,P<0.001);in control group,there was no correlation between T level and insulin level in FF(r=0.266,P=0.123),and there was no correlation between the expression level of PTEN mRNA in granulosa cells and the insulin level in FF in control group(r=-0.214,P=0.216).Conclusion:The high expression of PTEN in granulosa cells of the infertile patients with PCOS may be related to the local hyperinsulin level in the ovary,and PTEN participates in the occurrence and development of PCOS.

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