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.Construction of a global model of cardiac surface motion based on average intensity projection image
Yongjin DENG ; Zhaoyang WANG ; Minmin QIU ; Jianwen HUANG
Chinese Journal of Medical Physics 2025;42(2):199-207
Objective To construct a global model of cardiac surface motion based on average intensity projection(AIP)image.Methods The cine magnetic resonance imaging data were divided into training set and test set for model construction and validation.The datum points were obtained on the AIP surface point cloud,and the corresponding points of each cardiac phase surface point cloud were found based on surface features.Principal component analysis was used to extract feature information,establish the mapping relationship between the datum points and the corresponding points,and construct a model for predicting each temporal phase surface point cloud from the AIP surface point cloud.Results The RMSE of the model on test set for corresponding point prediction ranged from(0.209±0.020)mm to(0.841±0.074)mm,while the Euclidean distance for each time phase surface point cloud prediction ranged from(1.399±0.029)mm to(1.658±0.100)mm.Conclusion The proposed global model exhibit high accuracy and can provide a reference for image segmentation and clinical treatments.
3.Physical therapy for Parkinson's disease from 2014 to 2023:a bibliometric analysis
Dandan LU ; Jingzhi YAO ; Zi LI ; Kewen WANG ; Xinliao SUN ; Jianmin CHEN ; Jianwen XU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(8):906-913
Objective To analyze the research hotspots and frontier trends in the field of physical therapy for Parkinson's disease(PD)from 2014 to 2023.Methods Relevant literatures published from January,2014 to December,2023 were retrieved from the Web of Science Core Collection.CiteSpace 6.3.R1 was used to conduct bibliometric analysis,generating visual maps of coun-tries,institutions,keyword co-occurrence,burst terms,timelines and clustering,and they were summarized based on both visual results and literature content.Results A total of 400 articles were included.The United States had the highest publication volume,followed by China,Italy and Brazil,and the international collaboration was relatively active.Major contributing institutions included Northwestern University,Rush University,Karolinska Institutet and Universidade de S?o Paulo.Keyword co-oc-currence analysis showed that researches mainly focused on interventions such as exercise,postural control,aero-bic exercise and transcranial direct current stimulation.Burst detection analysis showed that keywords with high attention in recent years included motor symptoms,executive function,resistance training and noninvasive brain stimulation.The timeline map indicated a shift in research themes from early focus on electrical stimulation to in-tegrated interventions involving both motor and cognitive functions.Conclusion Over the past decade,researches on physical therapy for PD has shown steady growth,with increasing diver-sity in intervention strategies.There is a clear trend toward multidimensional integration and interdisciplinary col-laboration.Future studies should strengthen interventions targeting non-motor symptoms and promote the clinical application of new rehabilitation technologies.
4.Physical therapy for Parkinson's disease from 2014 to 2023:a bibliometric analysis
Dandan LU ; Jingzhi YAO ; Zi LI ; Kewen WANG ; Xinliao SUN ; Jianmin CHEN ; Jianwen XU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(8):906-913
Objective To analyze the research hotspots and frontier trends in the field of physical therapy for Parkinson's disease(PD)from 2014 to 2023.Methods Relevant literatures published from January,2014 to December,2023 were retrieved from the Web of Science Core Collection.CiteSpace 6.3.R1 was used to conduct bibliometric analysis,generating visual maps of coun-tries,institutions,keyword co-occurrence,burst terms,timelines and clustering,and they were summarized based on both visual results and literature content.Results A total of 400 articles were included.The United States had the highest publication volume,followed by China,Italy and Brazil,and the international collaboration was relatively active.Major contributing institutions included Northwestern University,Rush University,Karolinska Institutet and Universidade de S?o Paulo.Keyword co-oc-currence analysis showed that researches mainly focused on interventions such as exercise,postural control,aero-bic exercise and transcranial direct current stimulation.Burst detection analysis showed that keywords with high attention in recent years included motor symptoms,executive function,resistance training and noninvasive brain stimulation.The timeline map indicated a shift in research themes from early focus on electrical stimulation to in-tegrated interventions involving both motor and cognitive functions.Conclusion Over the past decade,researches on physical therapy for PD has shown steady growth,with increasing diver-sity in intervention strategies.There is a clear trend toward multidimensional integration and interdisciplinary col-laboration.Future studies should strengthen interventions targeting non-motor symptoms and promote the clinical application of new rehabilitation technologies.
5.Different fertilization methods and quality of blastocyst trophoblast may affect the sex ratio at birth in single blastocyst transfer cycles
Zhaocheng ZENG ; Huili JI ; Jiang JIANG ; Jianwen SU ; Meijuan CHEN ; Xuefang WANG ; Ketong SU
Chinese Journal of Reproduction and Contraception 2025;45(5):475-481
Objective:To analyze the effects of fertilization methods, quality of inner cell mass (ICM) and trophectoderm (TE) on the sex ratio at birth (SRB) during single blastocyst transfer cycles.Methods:5 367 single blastocyst transfer cycles in in vitro fertilization/intracytoplasmic sperm injection and embryo transfer (IVF/ICSI-ET) of patients with successful pregnancy and delivery in Reproductive Medical Center of Zhanjiang Jiuhe Hospital from January 2010 to December 2022 were included in this retrospective cohort study. According to different types of embryos, the cycles were divided into fresh embryo group ( n=1 487, total population; n=1 258, ≤35 years old) and frozen-thawed embryo group ( n=3 880, total population; n=3 199, ≤35 years old). According to different fertilization methods, the cycles were divided into IVF group ( n=4 424, total population; n=3 667, ≤35 years old) and ICSI group ( n=943, total population; n=780, ≤35 years old). Chi-square test was used to analyze the differences of SRB among all the patients and the patients aged ≤35 years who underwent different embryo types and fertilization methods, and logistic regression was used to analyze the effects of ICM and TE ratings on SRB in each group of blastocysts. Results:There were 917 male infants (61.7%, 917/1 487) in the fresh embryo transfer group and 2 317 male infants (59.7%, 2 317/3 880) in frozen-thawed embryo transfer group. The SRB of the fresh embryo transfer group (160.9∶100) was slightly higher than that in frozen-thawed embryo transfer group (148.2∶100), but the difference was not statistically significant ( P=0.201). There were 2 732 male infants (61.8%, 2 732/4 424) in IVF group and 502 male infants (53.2%, 502/943) in ICSI group. The SRB of IVF group (161.5∶100) was significantly higher than that of ICSI group (113.8∶100), and the difference was statistically significant ( P<0.001). In female patients aged ≤35 years, the effects of different embryo transfer methods and different fertilization methods on SRB were consistent with the results of total population. Univariate logistic regression analysis showed that the SRB of patients with ICSI was lower than that of patients with IVF, except for 3-6AA. There were significant differences in SRB between ICSI cycles patients (88.8∶100; 72.8∶100; 156.1∶100) and IVF cycles patients (130.7∶100; 124.8∶100; 206.3∶100) when the blastocyst grade was 3-6BB ( OR=0.679, 95% CI: 0.516-0.896, P=0.006), 3-6AB( OR=0.583, 95% CI: 0.421-0.809, P=0.001) and 3-6BA OR=0.757, 95% CI: 0.585-0.979, P=0.034). Taking 3-6BB blastocysts as reference, the SRB of 3-6AA and 3-6BA blastocysts were higher (IVF: OR=1.527, 95% CI: 1.258-1.854, P<0.001; OR=1.579,95% CI: 1.341-1.859, P<0.001; ICSI: OR=2.566, 95% CI: 1.661-3.966, P<0.001; OR=1.758, 95% CI: 1.250-2.472, P=0.001). Compared with 3-6BA, the SRB of 3-6BC blastocysts was lower (IVF: OR=0.621, 95% CI: 0.447-0.862, P=0.004; ICSI: OR=0.442, 95% CI: 0.238-0.818, P=0.009). Taking 3-6AB as reference, the SRB of 3-6AA blastocysts was higher (IVF: OR=1.600, 95% CI: 1.307-1.958, P<0.001; ICSI: OR=3.130, 95% CI: 1.964-4.987, P<0.001). Conclusion:The SRB of fresh embryo group is slightly higher than that of frozen-thawed group in single blastocyst transfer cycles. Different fertilization methods can affect SRB, and the SRB in IVF is significantly higher than that in ICSI group. The quality of blastocysts can affect SRB, and blastocysts with higher quality TE have significantly increased SRB, while ICM quality have no significant effect on SRB.
6.Efficacy and safety of clear lens extraction with extended depth of focus intraocular lens implantation in the treatment of primary angle-closure suspect with presbyopia
Jianwen PENG ; Wei CHEN ; Lan HUANG ; Zhiqi CHEN ; Sifei XIANG ; Xianlin ZHANG ; Junming WANG
The Journal of Practical Medicine 2025;41(4):536-541
Objective To assess the efficacy of clear lens extraction combined with extended depth of focus(EDOF)intraocular lens(IOL)implantation in enhancing visual quality and concurrently opening peripheral angle structures in patients diagnosed with primary angle closure suspect(PACS)and presbyopia.Methods A total of 80 patients with PACS,presbyopia,and transparent lenses were enrolled and divided into two groups based on the type of implanted lens:a control group(n=46)and an experimental group(n=34).The control group underwent clear lens extraction followed by monofocal intraocular lens implantation,while the experimental group underwent clear lens extraction followed by extended depth of focus(EDOF)intraocular lens implantation.Preoperative and postoperative evaluations at 3 months included visual acuity,intraocular pressure,anterior segment structure,defocus curve,and Catquest 9SF-CN questionnaire scores.Adverse events were recorded to assess safety.Results Regarding the angular structure,after 3 months of treatment,results indicated significant increases in central ante-rior chamber depth,angle opening distance at 750 μ m,angle recess area at 750 μ m,trabecular-iris space area at 750 μm,and trabecular-iris angle at 750 μm in both groups compared to preoperative values(all P<0.01).However,no significant differences were observed between the two groups(all P>0.05).For the defocusing curve,visual acuity in the experimental group improved from+1.0 D to-4.0 D after 3 months of treatment(all P<0.05),while the control group showed improvements at+0.5 D,-0.5 D,-1.0 D,-2.0 D,-3.0 D,-3.5 D,and-4.0 D(all P<0.05).Postoperatively at 3 months,the experimental group exhibited superior visual acuity to the control group at-1.0 D to-4.0 D(all P<0.05).According to the Catquest 9SF-CN scale,scores in both groups significantly im-proved after 3 months of treatment(P<0.01),with the experimental group scoring higher than the control group(P<0.01).During the study,transient intraocular pressure elevation occurred in 7 patients(3 in the control group and 4 in the experimental group),but no serious adverse reactions were reported in either group.Conclusions In patients with pseudoexfoliation glaucoma combined with presbyopia,significant improvements in angle structures were observed following clear lens extraction.The implantation of an EDOF IOL notably enhanced postoperative visual quality compared to monofocal IOLs.
7.Effect of ultrasound-guided intercostal nerve block on stress response and postoperative pain in patients with transaxillay gasless endoscopic thyroidectomy
Meiling WEN ; Yuying HUANG ; Jianwen WANG ; Yun PENG
China Modern Doctor 2025;63(26):9-12
Objective To observe the effect of ultrasound-guided intercostal nerve block(ICNB)on stress response and postoperative pain in patients with transaxillay gasless endoscopic thyroidectomy(TGET).Methods A total of 60 patients who underwent TGET at Ganzhou People's Hospital from January 2023 to December 2024 were enrolled as subjects,they were divided into ICNB group(n=30)and control group(n=30),by using a random number table method.Intraoperative anesthetic dosage,pain scores within 24 hours postoperatively,levels of prostaglandin E2,norepinephrine,and cortisol,as well as the incidence rates of postoperative adverse reactions including nausea and drowsiness were compared between two groups.Results The dosage of propofol and remifentanil in ICNB group during the operation was lower than that in control group.Prince-Henry score 24h after the operation in ICNB group was lower than that in control group.Levels of prostaglandin E2,norepinephrine and cortisol in ICNB group were all lower than those in control group,and the difference was statistically significant(P<0.05).The incidences of postoperative nausea and drowsiness in ICNB group were lower than those in control group.Conclusion Ultrasound-guided ICNB for TGET can reduce the use of anesthetic drugs during the operation,alleviate patient's stress response and postoperative pain,and lower the incidence of postoperative 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.The current status and challenges of laser in the treatment of bladder tumors
Journal of Modern Urology 2025;30(5):375-379
Bladder urothelial carcinoma is one of the common malignant tumors of the urinary system.The traditional treatment is transurethral resection of bladder tumor (TURBT),which is mainly used for non-muscle invasive bladder cancer.However,this surgical procedure has problems such as fragmented specimens,inaccurate staging,and high incidence of complications.With the development of surgical techniques and equipment,en bloc resection of bladder tumor (ERBT) is gradually replacing traditional TURBT thanks to advantages of minimal trauma,fewer complications,and so on.ERBT based on various types of lasers provides clinicians with multiple choices,such as neodymium laser,holmium laser,thulium laser,blue laser,and diode laser.However,lasers have different advantages as well as limitations.This paper explores the current application of various lasers in ERBT,and analyzes the challenges and plans in handling large volume bladder tumors and collecting specimens,so as to provide reference for clinical urologists.
10.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.

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