1.Perioperative Management of Duchenne Muscular Dystrophy and Accompanying Spinal Deformity: a Case Report
Jing ZHAN ; Weiyun CHEN ; Jianxiong SHEN
JOURNAL OF RARE DISEASES 2026;5(1):68-72
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder caused by mutations in the dystrophin gene, classified as a rare congenital muscular disease. Its clinical features include progressive skeletal muscle weakness, often involving respiratory and cardiac muscles, and frequently associated with spinal deformities. This paper reports the diagnosis, perioperative management, and follow-up of a case of DMD with multisystem involvement and severe scoliosis, aiming to provide a reference for clinicians in the diagnosis and treatment of such diseases.
2.Clinical features, diagnosis and treatment of 15 severe Chlamydia psittaci pneumonia cases
Weiyun ZHANG ; Jing CHEN ; Yan ZHU
Chinese Journal of Infectious Diseases 2025;43(10):615-622
Objective:To analyze the clinical features and treatment regimens of patients with severe Chlamydia psittaci pneumonia, so that to improve the understanding and management of severe Chlamydia psittaci pneumonia. Methods:A retrospective analysis was conducted on 15 patients with severe Chlamydia psittaci pneumonia in the Jiangnan University Affiliated Central Hospital and Affiliated Hospital of Jiangnan University from January 2021 to December 2024. The clinical data on demographics, epidemiological history, clinical symptoms, laboratory results, imaging findings, treatment regimens, and prognosis were retrospectively collected and analyzed. Statistical analysis was performed using Fisher′s exact test. Results:Among the 15 patients, 13 were male and two were female, with ages ranging from 44 to 85 years and six over 65 years old. Six patients reported a history of poultry contact. The main complication was respiratory failure(14/15), followed by shock (3/15), rhabdomyolysis (2/15), encephalitis (1/15) and lower extremity deep vein thrombosis (1/15). The main clinical manifestations included fever (15/15), cough (11/15), dyspnea (8/15) and consciousness disturbance (5/15). Laboratory tests showed normal (7/15) or mild elevated (6/15) white blood cell counts, elevated neutrophil counts (9/15), decreased lymphocyte counts (15/15), elevated C-reactive protein (15/15), procalcitonin (11/15), liver enzymes (15/15) and D-dimer (15/15), normal creatinine levels (12/15), elevated creatine kinase (10/15), and decreased oxygenation reserve index (15/15). Chest computed tomography (CT) demonstrated large-scale consolidation (9/15) and patchy streaky opacities (9/15), frequently involving bilateral lungs (10/15). The pleural effusion was noted in 14 cases. Antibiotic regimens included tetracycline combined with fluoroquinolone (eight patients), fluoroquinolone alone (five patients), macrolide combined with fluoroquinolone (one patient), and third-generation tetracycline alone (one patient). Glucocorticoids were administered to seven patients. All 15 cases improved and were discharged from hospital. One-month follow-up showed no statistically significant difference in the incidence of residual streaks between glucocorticoid-treated and non-glucocorticoid-treated patients (1/5 vs 2/4, Fisher′s exact test, P>0.05). Conclusions:The main clinical manifestations of severe Chlamydia psittaci pneumonia are fever, cough, dyspnea, and consciousness disturbance, often complicated with respiratory failure and shock. Chest imaging commonly shows bilateral large-scale consolidation and patchy streaks with pleural effusion. Laboratory results suggest normal or mildly elevated white blood cell counts, decreased lymphocyte counts, elevated inflammatory markers, liver enzymes and thrombus markers. A tetracycline-base regimen is preferred for severe patients. The prognosis is generally favorable under early diagnosis and targeted antimicrobial treatment.
3.Perioperative Management of SEPN1-Related Myopathy Accompanying Scoliosis:A Case Report
Weiyun CHEN ; Yi DAI ; Min QIAN ; Jinqian LIANG
Medical Journal of Peking Union Medical College Hospital 2025;16(4):995-1001
The SEPN1 gene encodes selenoprotein N,and mutations in this gene can cause SEPN1-re-lated myopathy(SEPN1-RM).SEPN1-RM is an extremely rare and complex congenital myopathy with an in-sidious onset and slow progression,often leading to multi-system involvement.The main clinical manifestations include axial and proximal muscle weakness,early respiratory dysfunction,and spinal deformities.This article reports the diagnosis and treatment conditions for a pediatric patient carrying novel mutation in SEPN1 gene who underwent spinal orthopedic fusion surgery.After detailed multidisciplinary evaluation,adequate preoperative preparation,and meticulous perioperative management,the patient successfully underwent high-risk spinal or-thopedic surgery and recovered well.Based on the patient's diagnosis,perioperative management,and follow-up,combined with the latest domestic and international literature,this article systematically discusses the diag-nostic and therapeutic characteristics of this rare disease.The aim is to enhance clinicians'understanding of such diseases and to provide evidence-based support and reference for perioperative comprehensive management for such diseases.
4.Perioperative Management of SEPN1-Related Myopathy Accompanying Scoliosis:A Case Report
Weiyun CHEN ; Yi DAI ; Min QIAN ; Jinqian LIANG
Medical Journal of Peking Union Medical College Hospital 2025;16(4):995-1001
The SEPN1 gene encodes selenoprotein N,and mutations in this gene can cause SEPN1-re-lated myopathy(SEPN1-RM).SEPN1-RM is an extremely rare and complex congenital myopathy with an in-sidious onset and slow progression,often leading to multi-system involvement.The main clinical manifestations include axial and proximal muscle weakness,early respiratory dysfunction,and spinal deformities.This article reports the diagnosis and treatment conditions for a pediatric patient carrying novel mutation in SEPN1 gene who underwent spinal orthopedic fusion surgery.After detailed multidisciplinary evaluation,adequate preoperative preparation,and meticulous perioperative management,the patient successfully underwent high-risk spinal or-thopedic surgery and recovered well.Based on the patient's diagnosis,perioperative management,and follow-up,combined with the latest domestic and international literature,this article systematically discusses the diag-nostic and therapeutic characteristics of this rare disease.The aim is to enhance clinicians'understanding of such diseases and to provide evidence-based support and reference for perioperative comprehensive management for such diseases.
5.Clinical features, diagnosis and treatment of 15 severe Chlamydia psittaci pneumonia cases
Weiyun ZHANG ; Jing CHEN ; Yan ZHU
Chinese Journal of Infectious Diseases 2025;43(10):615-622
Objective:To analyze the clinical features and treatment regimens of patients with severe Chlamydia psittaci pneumonia, so that to improve the understanding and management of severe Chlamydia psittaci pneumonia. Methods:A retrospective analysis was conducted on 15 patients with severe Chlamydia psittaci pneumonia in the Jiangnan University Affiliated Central Hospital and Affiliated Hospital of Jiangnan University from January 2021 to December 2024. The clinical data on demographics, epidemiological history, clinical symptoms, laboratory results, imaging findings, treatment regimens, and prognosis were retrospectively collected and analyzed. Statistical analysis was performed using Fisher′s exact test. Results:Among the 15 patients, 13 were male and two were female, with ages ranging from 44 to 85 years and six over 65 years old. Six patients reported a history of poultry contact. The main complication was respiratory failure(14/15), followed by shock (3/15), rhabdomyolysis (2/15), encephalitis (1/15) and lower extremity deep vein thrombosis (1/15). The main clinical manifestations included fever (15/15), cough (11/15), dyspnea (8/15) and consciousness disturbance (5/15). Laboratory tests showed normal (7/15) or mild elevated (6/15) white blood cell counts, elevated neutrophil counts (9/15), decreased lymphocyte counts (15/15), elevated C-reactive protein (15/15), procalcitonin (11/15), liver enzymes (15/15) and D-dimer (15/15), normal creatinine levels (12/15), elevated creatine kinase (10/15), and decreased oxygenation reserve index (15/15). Chest computed tomography (CT) demonstrated large-scale consolidation (9/15) and patchy streaky opacities (9/15), frequently involving bilateral lungs (10/15). The pleural effusion was noted in 14 cases. Antibiotic regimens included tetracycline combined with fluoroquinolone (eight patients), fluoroquinolone alone (five patients), macrolide combined with fluoroquinolone (one patient), and third-generation tetracycline alone (one patient). Glucocorticoids were administered to seven patients. All 15 cases improved and were discharged from hospital. One-month follow-up showed no statistically significant difference in the incidence of residual streaks between glucocorticoid-treated and non-glucocorticoid-treated patients (1/5 vs 2/4, Fisher′s exact test, P>0.05). Conclusions:The main clinical manifestations of severe Chlamydia psittaci pneumonia are fever, cough, dyspnea, and consciousness disturbance, often complicated with respiratory failure and shock. Chest imaging commonly shows bilateral large-scale consolidation and patchy streaks with pleural effusion. Laboratory results suggest normal or mildly elevated white blood cell counts, decreased lymphocyte counts, elevated inflammatory markers, liver enzymes and thrombus markers. A tetracycline-base regimen is preferred for severe patients. The prognosis is generally favorable under early diagnosis and targeted antimicrobial treatment.
6.Diagnostic value of serum lncRNA T342620 levels combined with AFP for hepatocellular carcinoma
Min CHEN ; Weiyun ZHANG ; Zongqin XU ; Bin XIAO ; Juanzi LIU ; Xiao LI ; Zhaohui SUN
International Journal of Laboratory Medicine 2024;45(21):2594-2599
Objective To explore the expression level of serum long non-coding RNA(lncRNA)T342620 in patients with hepatocellular carcinoma(HCC)and the clinical value of single or combined detection with al-pha-fetoprotein(AFP)for HCC.Methods Case-control studies were conducted.A total of 69 patients with primary hepatocellular carcinoma(HCC group),32 patients with hepatitis B(hepatitis B group),20 patients with liver cirrhosis(liver cirrhosis group),30 patients after transcatheter hepatic arterial chemoembolization(TACE)for primary hepatocellular carcinoma(HCC postoperative group)and 50 healthy patients(health ex-amination group)treated in the General Hospital of Southern Theatre Command of PLA from April 2021 to May 2023 were selected as the study objects.The serum total RNA was extracted and the relative expression level of lncRNA T342620 in serum was detected by real-time quantitative PCR.Combined with the clinical di-agnosis and treatment data of patients,the correlation between its expression and pathological characteristics and serological indexes was analyzed,and the specificity and sensitivity of lncRNA T342620 alone and in com-bination with AFP in the diagnosis of HCC were analyzed by receiver operating characteristic(ROC)curve.The diagnostic efficacy was judged according to the area under the curve,and its application value in the diag-nosis of HCC was evaluated.The chi-square test was used for comparison between groups,and the Spearman method was used for correlation analysis.Results The serum expression levels of lncRNA T342620 in liver cancer group and postoperative liver cancer group were higher than those in healthy physical examination group,hepatitis B group and liver cirrhosis group,and the differences were statistically significant(P<0.001).Clinical pathological and serological index analysis revealed that as the tumor size increased,the serum lncRNA-T342620 expression level also increased.In the HCC group,the serum lncRNA T342620 expression level was negatively correlated with albumin(ALB)and the A/G ratio(P<0.05),while it was positively cor-related with α-L-fucosidase(AFU)and HBV-DNA(P<0.05).In patients from the HCC postoperative group,the serum lncRNA T342620 expression level was positively correlated with total bile acid(TBA)(P<0.05).ROC curve analysis demonstrated that when using serum lncRNA T342620 to distinguish,the sensitivi-ty and the specificity were 55.1%and 94.1%,respectively,indicating good diagnostic value.When combined with AFP detection,the sensitivity and the specificity improved to 91.3%and 91.2%,respectively,which were higher than those of individual indicators and had a superior diagnostic efficiency with area under the cuve(AUC)of 0.954 compared to AUC of AFP or lncRNA-T342620 alone(0.906,0.758),and the differ-ences were statistically significant(P<0.05).Conclusion Serum lncRNA T342620 may be a new serological index for the auxiliary diagnosis of HCC.
7.Problems and countermeasures of industry-university-research cooperation in Liaoning Province
Yudong WU ; Ji WU ; Wei WU ; Xin LI ; Yu YI ; Yanming LIU ; Shuyin LI ; Yuting KANG ; Wenrui LU ; Weiyun CHEN ; Fu REN ; Kebin XU
Journal of Shenyang Medical College 2024;26(5):542-546
Industry-university-research cooperation is not only the core of technological innovation,but also an important way to enhance industrial competitiveness and achieve high-quality development.Industry-university-research cooperation in Liaoning Province has achieved significant results in promoting technological innovation and economic development,but there are still some problems and challenges.The main problems include insufficient depth of industry-university-research cooperation,scattered innovation resources,lack of long-term stable cooperation mechanisms,as well as talent loss and lack of high-quality innovative talents.Through systematically sorting out the existing models of industry-university-research cooperation,it proposes a series of targeted and operable countermeasures and suggestions.These measures and suggestions provide solid theoretical support for the healthy development of industry-university-research cooperation in Liaoning Province.
8.A survey on the learning interest of college students majoring in Bioinformatics
Kebin XU ; Ziyan LI ; Xiucong PEI ; Qiaozhi YANG ; Weiyun CHEN ; Xin LI
Journal of Shenyang Medical College 2024;26(6):658-662,667
Objective:To understand the learning interest of college students majoring in Bioinformatics in Shenyang Medical College and its influencing factors,so as to provide a strong basis for future teaching reform and curriculum setting.Method:After the actual teaching,a self-made questionnaire was used to conduct a quantitative survey on the first-year students majoring in Bioinformatics of Shenyang Medical College to understand their learning interest and analyze its influencing factors.Results:The questionnaire survey found that students majoring in Bioinformatics had different interest points for all 9 courses,different teaching links and different teaching methods in the second semester of freshman.Students had a general high interest in Introduction to Bioinformatics and Introduction to Biometrics.In the Introduction to Bioinformatics course,students were more interested in the history of bioinformatics,but less interested in algorithm-related knowledge points.In the Introduction to Biometrics course,students were more interested in the application cases of biometric recognition,but less interested in laws and regulations of biometrics.The interest of students in learning mainly lied in whether it is conducive to the postgraduate entrance examination.Conclusion:Through strengthen the education of bioinformatics related courses,enhance students'understanding of bioinformatics knowledge and improve their interest in Bioinformatics by analyzing the results of students'questionnaire.
9.Efficacy of different concentrations of ZKY001 eyedrops in the treatment of corneal epithelial defect after primary pterygium excision
Hua GAO ; Lei ZHU ; Jianjiang XU ; Liming TAO ; Yanling DONG ; Luxia CHEN ; Xiuming JIN ; Guigang LI ; Huping WU ; Ping ZHAO ; Wei CHEN ; Xiaoyi LI ; Weiyun SHI
International Eye Science 2024;24(12):1888-1894
AIM: To investigate the efficacy and safety of ZKY001 eye drops with different concentrations in the treatment of corneal epithelial defects(CED)after primary pterygium excision.METHODS: This was a multicenter, randomized, double-blinded, placebo-controlled phase II clinical trial. From March 15, 2022 to November 14, 2022, patients with primary pterygium who had undergone surgery were recruited from 12 tertiary hospitals across China. Using block randomization, 178 patients(178 eyes)were randomly assigned to 3 groups in a 1:1:1 ratio: 0.002% ZKY001 group(n=59), 0.004% ZKY001 group(n=59), and placebo group(n=60, receiving ZKY001 sham eye drops). Subjects in each group received 1 drop of the study drug 4 times per day for 4 d. The percentage of CED area recovery from baseline, the first complete healing time of CED area, the number of first complete healing cases of CED, and changes in visual analogue scale(VAS)scores for eye discomfort including eye pain, foreign body sensation, tearing and photophobia were observed.RESULTS: In terms of improvement in CED, there were no statistically significant differences among the three groups including the first healing time of CED, the percentage improvement in CED area compared to baseline, and the percentage of first healing cases at different follow-up visits(all P>0.05). Numerically, the first healing time of CED was shorter in the test groups compared to the placebo group(67.87±21.688 h for the 0.002% ZKY001 group, 61.48±22.091 h for the 0.004% ZKY001 group, and 68.85±20.851 h for the placebo group). On D1 morning, the percentage improvement in CED area compared to baseline was maximally different from the placebo group, and the numerical difference advantage was maintained at subsequent follow-up visits. The number of first healing cases in the CED area at different follow-up visits was higher in the test groups than the placebo group. In terms of improvement in ocular discomfort, the total VAS scores were lower in the test groups compared to the placebo group, mainly due to reductions in foreign body sensation and pain scores. At D3, the 0.004% ZKY001 group showed statistically significant improvement in foreign body sensation(P<0.017). In terms of safety, the overall incidence of adverse events was low(9.0%)and similar among groups.CONCLUSION: The use of ZKY001 eyedrops after primary pterygium surgery can safely improve the CED repair, and alleviate postoperative symptoms caused by CED.
10.Comparison of corneal higher order aberration after femtosecond laser-assisted laser in situ keratomileusis and small incision lenticule extraction
Mingna LIU ; Weiyun SHI ; Hua GAO ; Na LI ; Tong CHEN
Chinese Journal of Experimental Ophthalmology 2023;41(8):755-762
Objective:To analyze and compare the corneal higher order aberration (HOA) after femtosecond laser-assisted laser in situ keratomileusis (FS-LASIK) and small incision lenticule extraction (SMILE).Methods:A non-randomized controlled study was conducted.Sixty myopic patients (60 eyes) who underwent FS-LASIK or SMILE correction at Shandong Eye Hospital from April 2018 to January 2020 were enrolled and the data from the right eye were collected for analysis.Thirty cases (30 eyes) who received FS-LASIK in FS-LASIK group and 30 cases (30 eyes) who received SMILE in SMILE group had a preoperative equivalent spherical diopter of (-5.36±1.11)D and (-4.93±1.03)D, respectively.The HOA of the 6-mm anterior surface, posterior surface, and whole cornea were measured before surgery and at 1, 3, 6, and 12 months after surgery using Pentacam.The root mean square values (μm) of total corneal HOA, spherical aberration, coma and trefoil were obtained.Differences in the above root mean square values at different time points were compared between the two groups.The study protocol adhered to the Declaration of Helsinki and was approved by the Ethics Committee of Shandong Eye Hospital (No.SDSYKYY20180306). Written informed consent was obtained from each subject.Results:The preoperative and 1-, 3-, 6-, 12-month postoperative total HOA of the anterior corneal surface were (0.428±0.126), (0.775±0.169), (0.811±0.194), (0.759±0.214), (0.704±0.199)μm in the FS-LASIK group and (0.409±0.094), (0.656±0.148), (0.681±0.161), (0.668±0.175), (0.648±0.160)μm in the SMILE group, with a significant overall difference ( Fgroup=5.652, P=0.024; Ftime=107.169, P<0.01). Compared with SMILE group, the postoperative total HOA of anterior corneal surface and spherical aberration at different time points were increased in FS-LASIK group, showing statistically significant differences (all at P<0.05). Compared with before surgery, the postoperative total HOA of the anterior corneal surface and spherical aberration at different time points were increased in both groups, showing statistically significant differences (all at P<0.05). In the two groups, the 6- and 12-month postoperative total HOA of the anterior corneal surface were reduced in comparison with the 3-month postoperative ones of the anterior corneal surface, and the 12-month postoperative spherical aberrations of the anterior corneal surface were significantly reduced in comparison with the 1- and 3-month postoperative ones of the anterior corneal surface, showing statistically significant differences (all at P<0.05). There were significant differences in the coma and trefoil of the anterior corneal surface between before and after the operation (coma: Ftime=47.848, P<0.01; trefoil: Ftime=2.497, P=0.046). Compared with before surgery, the postoperative coma was significantly increased in the two groups (all at P<0.05). There were significant differences in total corneal HOA and spherical aberration at different postoperative time points between the two groups (total HOA: Fgroup=8.093, P=0.008; Ftime=125.019, P<0.01.spherical aberration: Fgroup=4.771, P=0.037; Ftime=34.033, P<0.01). Compared with SMILE group, the total corneal HOA and spherical aberration were significantly increased in FS-LASIK group at different postoperative time points (all at P<0.05). Compared with before surgery, postoperative total HOA of the anterior corneal surface and spherical aberration at different postoperative time points were significantly increased in both groups (all at P<0.05). In both groups, the 12-month postoperative corneal spherical aberration was significantly reduced in comparison with the 1- and 3-month postoperative ones (all at P<0.05). There was a significant difference in coma between before and after surgery ( Ftime=30.829, P<0.01). Compared with before surgery, the postoperative coma was significantly increased at different time points in both groups (all at P<0.05). Conclusions:Both FS-LASIK and SMILE increase the HOA of the anterior corneal surface and the whole cornea.Compared with FS-LASIK, SMILE introduces less HOA of the anterior corneal surface and the whole cornea as well as spherical aberrations.

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