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.Effect of neodymium-doped:yttrium aluminum perovskite laser combined with two kinds of remineralizers on remineralization of early enamel caries
Yinghua XU ; Jing LIU ; Quan YOU ; Zhihao WEN ; Lu GAO
Chinese Journal of Tissue Engineering Research 2024;28(3):360-365
BACKGROUND:In recent years,a variety of lasers have been widely used in various diseases related to stomatology,including the prevention and treatment of dental caries. OBJECTIVE:To investigate the effect of neodymium-doped:yttrium aluminum perovskite(Nd:YAP)laser combined with two remineralizers on early enamel caries in vitro. METHODS:Early enamel caries models in vitro were artificially established by 60 enamel blocks and randomly divided into 6 groups(n=10).Group A did not undergo any treatment but underwent extracorporeal pH circulation.Group B underwent remineralization of dentin(the main component of casein phosphopeptide-amorphous calcium phosphate composite)and extracorporeal pH circulation.Group C underwent remineralization treatment of Sensodyne toothpaste(the main component of bioactive glass)and then underwent extracorporeal pH circulation.Group D received Nd:YAP laser irradiation and extracorporeal pH circulation.Group E was treated with Nd:YAP laser irradiation,with remineralization of dentin,and then with extracorporeal pH circulation.In group F,Nd:YAP laser irradiation was performed,and then Sensodyne toothpaste was used for remineralization,and the extracorporeal pH circulation was performed;the remineralization treatment was conducted twice a day,and the experimental period was 20 days.Group G was a normal control group,without caries or remineralization,but only underwent extracorporeal pH circulation.After the experiment,the microhardness,morphology and Ca/P ratio of the dental enamel surface were measured in each group. RESULTS AND CONCLUSION:(1)The surface microhardness value of dental enamel in groups B,C and D was higher than that in group A(P<0.000 1);the surface microhardness value of dental enamel in groups E and F was significantly higher than that in groups B,C and D(P<0.000 1),and the surface microhardness value of dental enamel in group F was significantly higher than that in group E(P<0.000 1).(2)Scanning electron microscopy showed that there were a lot of demineralized pores on the enamel surface of group A.There were mineral deposits on the enamel surface of group B,which were uneven and loose.In group C,there were a lot of mineral deposits on the enamel surface,and demineralized pores were found between the calcified masses.The enamel surface of group D was relatively flat;the demineralized pores were significantly smaller than that of group A,and the enamel column interstitium was damaged.In group E,the mineral deposits on the enamel surface were thicker and the demineralized pores were significantly reduced.The mineralized substances deposited on the enamel surface of group F were most dense and uniform and the demineralized pores were small.(3)The Ca/P ratio on the enamel surface of groups B and C was significantly higher than that of group A(P<0.000 1);the Ca/P ratio on the enamel surface of group E was significantly higher than that of groups B,C and D(P<0.000 1),and the Ca/P ratio on the enamel surface of group F was higher than that of group E(P<0.001).(4)These findings indicate that bioactive glass,casein phosphopeptide-amorphous calcium phosphate composite,and Nd:YAP laser after enamel demineralization can promote the remineralization of early enamel caries.Nd:YAP laser combined with bioactive glass or casein phosphopeptide-amorphous calcium phosphate composite can further strengthen the remineralization of dental enamel caries,and the combination of Nd:YAP laser and bioactive glass has the best effect.
3.Microvascular decompression and percutaneous balloon compression for treatment of primary trigeminal neuralgia-a clinical prospective cohort study
Hao WANG ; Wenhua YU ; Qunjie LIU ; Qiang ZHU ; Zhihao CHE ; Quan DU ; Xiaoqiao DONG
The Journal of Practical Medicine 2014;(21):3388-3391
Objective To compare clinical outcome of microvascular decompression (MVD) and percutaneous balloon compression (PBC) by using a prospective cohort study in order to provide a reliable evidence for the clinical decision-making. Methods Patients with trigeminal neuralgia hospitalized at Hangzhou First People′s Hospital in 2010 were chosen as database for cohort study. The patients were divided into MVD group (30 cases) and PBC group (30 cases). The clinical efficacy was followed by independent observers for 36 months after surgery. Chi-square test for hierarchical data, t test for quantitative data, and Kaplan-Meier plot for clinical outcomes were applied in the research. The endpoint was follow-up accomplishment or severe occurrence. Results Sixty patients were included in the research till the endpoint. The general records before surgery were almost the same with the literature records. By comparing painless period, mild and severe relapse, MVD group was superior to PBC group (P < 0.05). As for the painless survival period, MVD group was 96.7% of pain free after 1 year, 93.3% after 3 years, while PBC group was 90.0% after 1 year and 83.3% after 3 years. Regarding 3 years of follow-up, the relapse seemed occurred after 1 year in both groups. Conclusions As a curative and nondestructive procedure , MVD is more effective and has longer lasting pain free period , which should be considered as the first choice of treatment for trigeminal neuralgia in healthy people.
4.Treatment of refractory trigeminal neuralgia by micro-balloon compression trigeminal ganglion
Wenhua YU ; Qiang ZHU ; Xiaoqiao DONG ; Zhuyong ZHANG ; Zhihao CHE ; Qunjie LIU ; Hao WANG ; Quan DU ; Dingbo YANG ; Yongfeng SHEN ; Huanfeng DU
The Journal of Practical Medicine 2014;(21):3395-3397
Objective To evaluate the clinical effects of percutaneous micro-balloon compression (PBC) trigeminal ganglion for the treatment refractory trigeminal neuralgia. Methods Surgical results of 452 patients with trigeminal neuralgia treated by PBC from October 2009 to May 2013 were analyzed retrospectively. 125 cases aged over 80 years old and 70 cases′ pain belongs to the first branch neuralgia. Such procedures as Meckle′s cave cannulated with No.4 Forgarty catheter and the balloon inflated and compressed the gasserian ganglion monitored by X-ray were observed by PBC. Follow-up interview and curative effects were recorded. Results The average hospitalization was 6.1 days. Among them, 432(95.6%) cases had immediate relief from pain. The overall pain relief rate was 97.8% in our group without serious surgical complications. Postoperative complications include hemifacial numbness in 385 patients (85.2%), mild masseter muscle weakness in 248 patients (54.9%), diplopia in 2 patients. All symptoms relived or disappeared within 1 ~ 6 months. The average follow-up intervier period is 23.5 months. The recurrence rate is 10.2% (46 cases). Conclusion PBC is a safe and effective method with high pain relief rate in the treatment of refractory trigeminal neuralgia , especially for the treatment of the high risk patients , patients with recurrent symptoms or the patients suffered from the first branch neuralgia.

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