1.The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy
Jiaxi YU ; Zhihao QUAN ; Yilei ZHENG ; Jing AN ; Jing LIU ; Qingqing WANG ; Lingchao MENG ; Meng YU ; Zhiying XIE ; Jianwen DENG ; He LYU ; Wei ZHANG ; Yun YUAN ; Zhaoxia WANG
JOURNAL OF RARE DISEASES 2026;5(2):164-174
To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes. A total of 65 genetically confirmed OPDM patients from 43 unrelated families, who were admitted to the Department of Neurology, Peking University First Hospital between January 2008 and December 2025, were retrospectively included.The general demographic data, clinical manifestations, laboratory/auxiliary examinations, muscle pathology, and genetic test results were systematically collected and analyzed. The clinical and pathological characteristics among different OPDM subtypes were compared. Among the 65 patients(39 male and 26 female), the mean age of onset was (31.20±10.43) years (range: 14 to 63 years). The initial symptom was predominantly distal limb weakness (67.44%), which gradually progressed to involve the extraocular muscles, pharyngeal muscles, facial muscles and proximal limb muscles. Serum creatine kinase levels were mildly to moderately elevated. Muscle pathological examinations revealed rimmed vacuoles and intranuclear inclusions (within muscle fibers). The mean duration from onset to diagnosis was (12.33±7.88) years (range: 1 to 32 years). All probands had negative results on conventional next-generation whole-exome sequencing; pathogenic variants were identified through third-generation long-read sequencing or OPDM-targeted repeat-primed polymerase chain reaction(RP-PCR). Among the 43 families, OPDM2 subtype was the most common genetic subtype ( OPDM2 was the predominant subtype in this study. All subtypes share similar age of onset and muscular pathological changes, yet exhibit distinct disease progression patterns. Future multicenter prospective cohort studies are warranted to further elucidate the clinical characteristics, pathogenetic mechanisms, and prognostic differences among OPDM subtypes.
2.Exploring on Quality Evaluation Methods of Clinical Case Reports in Traditional Chinese Medicine Based on China Clinical Cases Library of Traditional Chinese Medicine
Kaige ZHANG ; Feng ZHANG ; Bo ZHOU ; Haimin CHEN ; Yong ZHU ; Changcheng HOU ; Liangzhen YOU ; Weijun HUANG ; Jie YANG ; Guoshuang ZHU ; Shukun GONG ; Jianwen HE ; Yang YE ; Yuqiu AN ; Chunquan SUN ; Qingjie YUAN ; Buman LI ; Xingzhong FENG ; Kegang CAO ; Hongcai SHANG ; Jihua GUO ; Xiaoxiao ZHANG ; Zhining TIAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(1):271-276
As the core vehicle for preserving and transmitting traditional Chinese medicine(TCM) academic thought and clinical experience, the establishment of a robust quality evaluation system for TCM clinical case reports is a crucial component in the current standardization and modernization of TCM. Based on the practical experience of constructing the China Clinical Cases Library of Traditional Chinese Medicine by the China Association of Chinese Medicine, this study conducted a comprehensive analysis of critical challenges, including insufficient authenticity and unfocused evaluation criteria. It proposed a three-dimensional evaluation framework grounded in the structure-process-outcome logic, encompassing three dimensions of authenticity and standardization, characteristics and advantages, application and translational impact. This framework integrated 12 key evaluation indicators in a systematic manner. The model preserved the academic characteristics of TCM syndrome differentiation and treatment, while aligning with modern scientific research standards, achieving a balance between individualized TCM experience and standardized evaluation. Concurrently, this study provided theoretical foundations and methodological guidance for evaluating the quality of TCM clinical cases, contributing significantly to the inheritance of TCM knowledge, evidence-based practice, and the reform of talent evaluation mechanisms.
3.LncRNA GAS5 inhibits glioma progression through miR-135b-5p/APC axis
Jidong ZHANG ; Yutao WANG ; Jianwen JI
Journal of Army Medical University 2025;47(3):243-254
Objective To explore the interaction between long non-coding RNA growth arrest-specific 5(GAS5)and miR-135b-5p/adenomatous polyposis coli(APC)axis,and to elucidate its biological function in the proliferation,metastasis and invasion of glioma.Methods The relationship of GAS5 expression level with survival rate of glioma patients was analyzed based on CGGA database.qRT-PCR was used to detect the expression level of GAS5 in glioma tissues and cell lines.Human glioma T98 and A172 cell lines were subjected for overexpression and knockdown of GAS5,miR-135b-5p and APC by transfection.Western blotting and qRT-PCR were applied to measure the expression of related genes in glioma tissues or cell lines.CCK-8,Transwell and wound healing assays was conducted to determine the effect of GAS5 on the viability and motility of glioma cells.Moreover,dual luciferase reporter analysis were utilized to elucidate the regulatory mechanisms of GAS5 and miR-135b-5p/APC.Results Analysis on CGGA database showed that the survival rate of glioma patients with low GAS5 expression was significantly decreased(P<0.001).Western blotting and qRT-PCR indicated that GAS5 was down-regulated in the glioma cell lines and tissues than human normal astrocytes and para-cancer tissues(P<0.01).The results of CCK-8,Transwell and wound healing assays revealed that overexpression of GAS5 significantly inhibited the viability,invasion and migration abilities in T98 cells when compared with the cells of the vector group(P<0.01).Dual luciferase reporter analysis displayed that there were binding sites between GAS5 and miR-135b-5p,and the expression of the two was negatively correlated(P=0.019).Further studies suggested that the effect of GAS5 on biological function in glioma cells was through targeting miR-135b-5p,and overexpression of APC reversed the promoting effect of miR-135b-5p on glioma cells(P<0.01).Western blotting displayed that enhancing miR-135b-5p expression inhibited the expression of APC(P<0.001),and GAS5 upregulated the expression of APC by targeting miR-135b-5p(P<0.01).Conclusion GAS5 inhibits the progression of glioma via miR-135b-5p/APC axis,which revealing the molecular regulatory mechanism of GAS5/miR-135b-5p/APC.
4.Comparison of reconstructive effects and satisfaction analysis between latissimus dorsi myocutaneous flap and prosthesis implantation for breast reconstruction in breast cancer
Xiangning ZENG ; Shengchao HUANG ; Jianwen LI ; Jinxin FU ; Huang HUANG ; Yuanqi ZHANG
Chinese Journal of Endocrine Surgery 2025;19(5):640-645
Objective:Comparative clinical outcome and satisfaction analysis of latissimus dorsi breast reconstruction versus prosthetic breast reconstruction in the surgical management of female breast cancer.Methods:We retrospectively analysed 102 female breast cancer patients diagnosed in the Department of Breast Surgery of the Affiliated Hospital of Guangdong Medical University between Jan. 2020 and Dec. 2022, and collected clinical data from the latissimus dorsi muscle reconstruction group and the prosthesis reconstruction group, comparing them in terms of operation time, postoperative complications, average length of hospital stay, total hospitalization cost, postoperative satisfaction, and cosmetic effect.Results:Patients in both the latissimus dorsi muscle group and the prosthesis group underwent successful surgery. There were significant statistical differences between the two groups in terms of nipple preservation, radiotherapy, surgery time, average postoperative hospitalization time, total hospitalization costs, overall satisfaction, and social satisfaction ( P<0.001) . Conclusions:In female breast cancer, latissimus dorsi reconstruction has fewer complications and higher satisfaction than prosthetic reconstruction, and it can be popularized in the clinic.
5.Digital technology-assisted debridement and bone and soft tissue reconstruction for the treatment of chronic osteomyelitis of the tibia
Hongying HE ; Weidong SHI ; Wenxing HAN ; Li HAN ; Huhu WANG ; Jianwen ZHAO ; Zhuo WU ; Shaoguang LI ; Rongji ZHANG ; Yanhui GUO ; Jianzheng ZHANG
Chinese Journal of Orthopaedics 2025;45(8):500-507
Objective:To evaluate the safety and efficacy of digital technology-assisted debridement and bone and soft tissue reconstruction in the treatment of chronic osteomyelitis of the tibia.Methods:This retrospective study analyzed clinical data from 38 patients (26 males, 12 females; mean age 45.61±18.36 years, range 16-83 years) with chronic post-traumatic osteomyelitis complicated by soft tissue defects in the tibia, treated at the Department of Orthopaedics, Fourth Medical Center of PLA General Hospital between June 2021 and June 2023. There were 18 cases of traffic accidents, 6 cases of high-altitude falls, 6 cases of heavy objects and 6 cases of low-energy falls. Lesion sites: 12 cases in the upper segment of the tibia, 12 cases in the middle segment, and 14 cases in the lower segment. According to the Cierny-Mader classification, there were 24 cases of type III and 14 cases of type IV. Before the operation, the "3D point cloud technology" was used to plan the debridement range of bone and soft tissue. During the operation, the optical navigation system was used to monitor the debridement range in real time. The flap was designed by combining "Reading Tablet Treasure" with CT angiography, and the amount of bone graft was predicted by AI algorithm. The surgical method adopted is the Masquelet technique, namely thorough debridement, bone cement occupation and soft tissue repair in the first stage, and bone reconstruction in the second stage. Comparing the calculated bone defect amount and soft tissue defect area before the operation with the actual measured values after debridement. The cure rate of infection was evaluated by using the McKee bone infection treatment criteria after the operation. The visual analogue scale (VAS) for pain, lower extremity functional scale (LEFS), and self-rating anxiety scale (SAS) were used to evaluate the improvement of the quality of life of postoperative patients.Results:38 patients were followed up with a mean follow-up of 13.53±2.37 months. 37 patients' infections were effectively controlled, and 1 patient had a recurrence of infection, with an effectiveness rate of 97% for the treatment of McKee's infections. The preoperative calculated bone defect amount and soft tissue defect area were 51.05±26.31 cm 3 and 68.42±43.45 cm 2 respectively, and the actual measured values after debridement during the operation were 51.66±26.35 cm 3 and 68.82±43.76 cm 2 respectively. There was no statistically significant difference before and after the operation ( P>0.05). The interval between the first and second stage surgeries was 10.36±1.61 weeks, and all flaps survived after the first stage surgery. Two months after the operation, one case had recurrent osteomyelitis. After palliative treatment, sinus tracts were formed at the infection site. At the 12-month regular dressing change follow-up, there were still purulent secretions in the sinus tracts. There was no recurrence of infection after primary debridement in 37 cases, and the bone grafts healed. The bone healing time was 3.58±0.97 months. The postoperative VAS, LEFS, and SAS scores were 1.00±0.91, 66.68±7.91, and 34.30±4.29, respectively, which were significantly improved compared with the preoperative scores of 7.54±1.52, 21.22±4.29, and 52.70±6.74, respectively, and the difference was statistically significant ( P<0.05). Conclusions:The application of digital technology to precisely design the debridement range of bone and soft tissue, and the real-time holographic visualization monitoring of the debridement range during the operation can achieve precise debridement of bone and soft tissue and personalized and precise repair of soft tissue defects. It is a safe and effective technique for the treatment of chronic osteomyelitis of the tibia.
6.Comparison of reconstructive effects and satisfaction analysis between latissimus dorsi myocutaneous flap and prosthesis implantation for breast reconstruction in breast cancer
Xiangning ZENG ; Shengchao HUANG ; Jianwen LI ; Jinxin FU ; Huang HUANG ; Yuanqi ZHANG
Chinese Journal of Endocrine Surgery 2025;19(5):640-645
Objective:Comparative clinical outcome and satisfaction analysis of latissimus dorsi breast reconstruction versus prosthetic breast reconstruction in the surgical management of female breast cancer.Methods:We retrospectively analysed 102 female breast cancer patients diagnosed in the Department of Breast Surgery of the Affiliated Hospital of Guangdong Medical University between Jan. 2020 and Dec. 2022, and collected clinical data from the latissimus dorsi muscle reconstruction group and the prosthesis reconstruction group, comparing them in terms of operation time, postoperative complications, average length of hospital stay, total hospitalization cost, postoperative satisfaction, and cosmetic effect.Results:Patients in both the latissimus dorsi muscle group and the prosthesis group underwent successful surgery. There were significant statistical differences between the two groups in terms of nipple preservation, radiotherapy, surgery time, average postoperative hospitalization time, total hospitalization costs, overall satisfaction, and social satisfaction ( P<0.001) . Conclusions:In female breast cancer, latissimus dorsi reconstruction has fewer complications and higher satisfaction than prosthetic reconstruction, and it can be popularized in the clinic.
7.Effect analysis of titanium wire-absorbable suture dual line combined firm stitching technique in costal cartilage framework shaping for congenital microtia auricular reconstruction
Jianwen QU ; Yang JIA ; Zhen KONG ; Chunli ZHANG ; Lin LIN ; Bo PAN ; Chuan LI
Chinese Journal of Medical Aesthetics and Cosmetology 2025;31(1):30-35
Objective:To investigate the effect of titanium wire-absorbable suture dual line combined firm stitching technique in costal cartilage framework shaping for auricular reconstruction in congenital microtia patients.Methods:A retrospective study was conducted on 120 patients with congenital microtia who underwent auricular reconstruction surgery at the Plastic Surgery Hospital of Chinese Academy of Medical Sciences and Peking Union Medical College from January 2020 to December 2021. Among these, 86 were male and 34 were female, with an age range of 6-15 (8.5±2.1) years. All patients underwent auricular reconstruction using the expanded skin flap method, and the titanium wire-absorbable suture dual line combined firm stitching technique was used to construct a multi-layer three-dimensional autologous costal cartilage framework. Postoperative follow-up was conducted for 1 to 3 years to evaluate the morphology, stability, patient satisfaction, and occurrence of adverse reactions.Results:Of the 120 patients, 119 (99.2%) achieved primary healing. The reconstructed auricles were lifelike with clear substructures, and the long-term shape of the auricles remained stable without significant deformation. One patient developed a local skin infection and ulceration, leading to exposure of the cartilage framework, which was successfully repaired using a temporal fascia flap and free skin graft. A total of 85.8% (103/120) of the patients were satisfied with the postoperative results, 13.3% (16/120) rated the outcome as average, and 0.8% (1/120) were dissatisfied. No cases of hematoma or flap necrosis were observed in any of the patients.Conclusion:The costal cartilage framework, constructed using the titanium wire-absorbable suture dual line combined firm stitching technique, demonstrates good clinical effects for auricular reconstruction with no severe adverse reactions.
8.Digital technology-assisted debridement and bone and soft tissue reconstruction for the treatment of chronic osteomyelitis of the tibia
Hongying HE ; Weidong SHI ; Wenxing HAN ; Li HAN ; Huhu WANG ; Jianwen ZHAO ; Zhuo WU ; Shaoguang LI ; Rongji ZHANG ; Yanhui GUO ; Jianzheng ZHANG
Chinese Journal of Orthopaedics 2025;45(8):500-507
Objective:To evaluate the safety and efficacy of digital technology-assisted debridement and bone and soft tissue reconstruction in the treatment of chronic osteomyelitis of the tibia.Methods:This retrospective study analyzed clinical data from 38 patients (26 males, 12 females; mean age 45.61±18.36 years, range 16-83 years) with chronic post-traumatic osteomyelitis complicated by soft tissue defects in the tibia, treated at the Department of Orthopaedics, Fourth Medical Center of PLA General Hospital between June 2021 and June 2023. There were 18 cases of traffic accidents, 6 cases of high-altitude falls, 6 cases of heavy objects and 6 cases of low-energy falls. Lesion sites: 12 cases in the upper segment of the tibia, 12 cases in the middle segment, and 14 cases in the lower segment. According to the Cierny-Mader classification, there were 24 cases of type III and 14 cases of type IV. Before the operation, the "3D point cloud technology" was used to plan the debridement range of bone and soft tissue. During the operation, the optical navigation system was used to monitor the debridement range in real time. The flap was designed by combining "Reading Tablet Treasure" with CT angiography, and the amount of bone graft was predicted by AI algorithm. The surgical method adopted is the Masquelet technique, namely thorough debridement, bone cement occupation and soft tissue repair in the first stage, and bone reconstruction in the second stage. Comparing the calculated bone defect amount and soft tissue defect area before the operation with the actual measured values after debridement. The cure rate of infection was evaluated by using the McKee bone infection treatment criteria after the operation. The visual analogue scale (VAS) for pain, lower extremity functional scale (LEFS), and self-rating anxiety scale (SAS) were used to evaluate the improvement of the quality of life of postoperative patients.Results:38 patients were followed up with a mean follow-up of 13.53±2.37 months. 37 patients' infections were effectively controlled, and 1 patient had a recurrence of infection, with an effectiveness rate of 97% for the treatment of McKee's infections. The preoperative calculated bone defect amount and soft tissue defect area were 51.05±26.31 cm 3 and 68.42±43.45 cm 2 respectively, and the actual measured values after debridement during the operation were 51.66±26.35 cm 3 and 68.82±43.76 cm 2 respectively. There was no statistically significant difference before and after the operation ( P>0.05). The interval between the first and second stage surgeries was 10.36±1.61 weeks, and all flaps survived after the first stage surgery. Two months after the operation, one case had recurrent osteomyelitis. After palliative treatment, sinus tracts were formed at the infection site. At the 12-month regular dressing change follow-up, there were still purulent secretions in the sinus tracts. There was no recurrence of infection after primary debridement in 37 cases, and the bone grafts healed. The bone healing time was 3.58±0.97 months. The postoperative VAS, LEFS, and SAS scores were 1.00±0.91, 66.68±7.91, and 34.30±4.29, respectively, which were significantly improved compared with the preoperative scores of 7.54±1.52, 21.22±4.29, and 52.70±6.74, respectively, and the difference was statistically significant ( P<0.05). Conclusions:The application of digital technology to precisely design the debridement range of bone and soft tissue, and the real-time holographic visualization monitoring of the debridement range during the operation can achieve precise debridement of bone and soft tissue and personalized and precise repair of soft tissue defects. It is a safe and effective technique for the treatment of chronic osteomyelitis of the tibia.
9.Effect of Traditional Chinese Medicine Triple Therapy on Intestinal Mucosal Barrier and Inflammatory Factors in Liver Cirrhosis Patients of Spontaneous Bacterial Peritonitis with the Syndrome of Damp-Heat Stagnated with Toxin and Blood Stasis
Xiaorui ZHANG ; Guangwei LIU ; Jiangkai LIU ; Jianwen ZHANG
Journal of Traditional Chinese Medicine 2025;66(9):927-934
ObjectiveTo observe the clinical efficacy and safety of traditional Chinese medicine (TCM) triple therapy in the treatment of spontaneous bacterial peritonitis (SBP) with damp-heat stagnation and toxin-blood stasis syndrome in liver cirrhosis patients, and to explore its potential mechanisms of action. MethodsEighty-six patients were randomly divided into the experimental group and the control group, with 43 patients in each group. Both groups received standard western medicine treatment, while the experimental group additionally received TCM triple therapy, including oral Qingre Liangxue Jiedu Decoction (清热凉血解毒汤), retention enema with Dachengi Decoction (大承气汤), and abdominal application of Qingre Zhitong Lishui Fomulation (清热止痛利水方) with lotus leaf. Both groups were treated for 2 weeks. Before and after treatment, various indicators were measured, such as TCM syndrome scores, ascites volume measured by abdominal ultrasound, liver function indicators including total bilirubin (TBIL), alanine aminotransferase (ALT), aspartate aminotransferase (AST), and albumin (ALB), infection markers, including neutrophil percentage (NEUT%), C-reactive protein (CRP), and procalcitonin (PCT), inflammatory factors, such as tumor necrosis factor-alpha (TNF-ɑ), interleukin-6 (IL-6), and interleukin-10 (IL-10), intestinal mucosal barrier function markers, including endotoxin (ET), diamine oxidase (DAO), D-lactic acid (D-Lac), occludin, and zonula occludens-1 (ZO-1), and peritoneal polymorphonuclear (PMN) cell counts at 72 hours post-treatment. ResultsA total of 82 patients were included in the final analysis, with 41 patients in each group. The total effective rate for TCM syndrome in the experimental group was 92.68% (38/41), which was significantly higher than the 80.49% (33/41) in the control group (P<0.05). Compared with pre-treatment values, both groups showed significant reductions in TCM syndrome scores, ascites volume, TBIL, ALT, AST, NEUT%, CRP, PCT, TNF-α, IL-6, ET, DAO, D-Lac, Occludin, and ZO-1, with an increase in IL-10 levels and a decrease in PMN count in ascites 72 hours post-treatment (P<0.05). Furthermore, the experimental group outperformed the control group in all the above indicators after treatment (P<0.05). The disappearance time of fever and abdominal pain was shorter in the experimental group than in the control group (P<0.01). There were no significant changes in routine urine and stool tests, renal function, electrolytes, or electrocardiogram in either group compared with pre-treatment values. ConclusionTCM triple therapy in addition to western medicine routine treatment could significantly improves clinical symptoms in patients with liver cirrhosis and SBP with damp-heat stagnation and toxin-blood stasis syndrome, alleviates liver inflammation, improves liver function, accelerates the resolution of ascites, and increases clinical efficacy. The potential mechanism may be related to the regulation of the inflammatory response and the promotion of intestinal mucosal barrier repair.
10.Effect of Sangxing Zhike Formula in rats with cough variant asthma and its possible mechanism
Yongwei ZHAO ; Xiaoyi ZHANG ; Jianwen REN ; Jianjiang LUO
Journal of Clinical Medicine in Practice 2025;29(18):6-13
Objective To explore the effect of Sangxing Zhike Formula in rats with cough vari-ant asthma(CVA)and its possible mechanism based on the cyclic adenosine monophosphate(cAMP)/cystic fibrosis transmembrane conductance regulator(CFTR)pathway.Methods SD rats were randomly divided into control group,model group,dexamethasone group(0.5 mg/kg)and low-,medium-,high-dose Sangxing Zhike Formula groups(9.6,19.2 and 38.4 g/kg)using a ran-dom number table method,with 9 rats in each group.Except for the control group,CVA rat models were established in the other groups.Rats in each group were administered the drug by gavage once a day for 14 consecutive days.The general conditions of rats in each group were observed.Enzyme-linked immunosorbent assay(ELISA)was used to detect the levels of interleukin-1β(IL-1β)and interleukin-18(IL-18)in rat serum.Hematoxylin-eosin(HE)staining and periodic acid-Schiff(PAS)staining were used to observe the pathological changes in rat lung and bronchial tissues,and the acid-base balance of airway surface liquid(ASL)was measured.Western blot and real-time fluorescence quantitative polymerase chain reaction(RT-qPCR)were used to detect the expression levels of pro-tein kinase A(PKA),CFTR protein and their mRNA in lung tissues of rats.Results Compared with the control group,rats in the model group showed listlessness,dull fur,slow weight gain,a significantly expanded area of alveolar septal consolidation,and a large number of inflammatory cell infiltrations around the bronchi.Compared with the model group,rats in each intervention group had better general conditions and reduced inflammatory infiltrations in lung tissues and bronchial lu-mens.Compared with the control group,the serum levels of IL-1 β and IL-18 in the model group were increased,and the pH values of ASL in the model group,low-dose Sangxing Zhike Formula group,medium-dose Sangxing Zhike Formula group,and high-dose Sangxing Zhike Formula group were all decreased,with statistically significant differences(P<0.05).Compared with the model group,the serum levels of IL-1β and IL-18 in each intervention group were decreased,and the pH values of ASL in the dexamethasone group,medium-dose Sangxing Zhike Formula group,and high-dose Sangxing Zhike Formula group were increased,with statistically significant differences(P<0.05).Compared with the control group,the expressions of PKA protein and PKA mRNA in the model group,low-dose Sangxing Zhike Formula group,and medium-dose Sangxing Zhike Formula group were all decreased,and the expressions of CFTR protein and CFTR mRNA in the model group and each intervention group were all decreased,with statistically significant differences(P<0.05).Compared with the model group,the expressions of PKA protein and PKA mRNA in the dexametha-sone group and high-dose Sangxing Zhike Formula group were increased,and the expressions of CFTR protein and CFTR mRNA in the high-dose Sangxing Zhike Formula group were increased,with statistically significant differences(P<0.05).Conclusion Sangxing Zhike Formula can im-prove the general conditions of CVA rats,regulate the acid-base balance of ASL,reduce airway in-flammatory cell infiltration andairway remodeling,and decrease the levels of inflammatory factors IL-1β and IL-18.Its mechanism may be related to the cAMP/CFTR pathway.

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