1.Research progress on GRIN1 gene mutation-related epilepsy: From mechanisms to clinical applications
Yanling TANG ; Xiaorong LIU ; Jia LI
Journal of Apoplexy and Nervous Diseases 2025;42(8):697-703
Epilepsy is a chronic neurological disease characterized by abnormal synchronous discharges of brain neurons. The mutation of GRIN1, a key gene encoding the essential GluN1 subunit of N-methyl-D-aspartate (NMDA) receptors, is closely associated with the pathogenesis and progression of epilepsy. This review summarizes research advances in GRIN1 mutation-related epilepsy, with a focus on its molecular mechanisms, clinical phenotypes, factors influencing phenotypic heterogeneity, and treatment strategies. In terms of molecular mechanisms, GRIN1 mutations affect NMDA receptor function through gain-of-function and loss-of-function mechanisms. Clinical phenotypes show significant heterogeneity, including seizure types, age of onset, and comorbid neurodevelopmental disorders. This heterogeneity may be related to the domain where the mutation is located, the mutation type, and the degree of impact on receptor function. Regarding treatment, gain-of-function mutations can be managed with NMDA receptor antagonists, while loss-of-function mutations may be treated with positive allosteric modulators. The ketogenic diet has also demonstrated potential therapeutic effects. This review aims to provide references for basic research and clinical translation in GRIN1 mutation-related epilepsy, and to promote the development of precision diagnosis and treatment.
2.Potential utility of albumin-bilirubin and body mass index-based logistic model to predict survival outcome in non-small cell lung cancer with liver metastasis treated with immune checkpoint inhibitors.
Lianxi SONG ; Qinqin XU ; Ting ZHONG ; Wenhuan GUO ; Shaoding LIN ; Wenjuan JIANG ; Zhan WANG ; Li DENG ; Zhe HUANG ; Haoyue QIN ; Huan YAN ; Xing ZHANG ; Fan TONG ; Ruiguang ZHANG ; Zhaoyi LIU ; Lin ZHANG ; Xiaorong DONG ; Ting LI ; Chao FANG ; Xue CHEN ; Jun DENG ; Jing WANG ; Nong YANG ; Liang ZENG ; Yongchang ZHANG
Chinese Medical Journal 2025;138(4):478-480
3.Association of dietary patterns with serum uric acid and hyperuricemia in Chinese adults
Mengru DONG ; Yifei OUYANG ; Yanli WEI ; Huijun WANG ; Aidong LIU ; Zhihong WANG ; Xiaorong YUAN ; Xiaohui DONG ; Jiguo ZHANG
Chinese Journal of Epidemiology 2024;45(10):1403-1409
Objective:To analyze the dietary patterns of Chinese adults and explore the relationship with serum uric acid (SUA) and hyperuricemia (HUA).Methods:A total of 9 358 adults were selected in the 2018 China Health and Nutrition Survey. Dietary intake data were collected by three consecutive 24-hour dietary recalls and weighing method. The social demographic information of the survey subjects was obtained through questionnaire surveys. The dietary patterns were extracted using factor analysis, and the relationship between dietary patterns and SUA was analyzed using multiple linear regression analysis. The correlation between HUA and dietary patterns was analyzed using logistic regression analysis models.Results:Four dietary patterns were identified: northern (high intakes of wheat, other cereals,and tubers); modern (high intakes of fruit, dairy, eggs, and nuts); southern (high intakes of rice and vegetables);animal food-wine (high intake of organ meats, seafood, and wine). The multiple linear regression analysis results showed that the northern pattern was negatively correlated with SUA ( β=-0.438, 95% CI: -0.500--0.376); the modern pattern was negatively correlated with SUA ( β=-0.134, 95% CI: -0.219--0.049); the southern model was significantly correlated with higher SUA ( β=0.146, 95% CI: 0.079-0.214); the animal food-wine pattern was positively correlated with SUA ( β=0.188, 95% CI: 0.123-0.252). Logistic regression analysis showed that compared with the northern model score Q1 group, the risk of developing HUA was reduced in Q3 and Q4 groups, with ORs values of 0.777 (95% CI: 0.650-0.929) and 0.509 (95% CI: 0.423-0.613), respectively; and compared with the modern model score Q1 group, the higher the scores in Q3 and Q4 groups, the HUA was lower, with ORs of 0.793 (95% CI: 0.660-0.953) and 0.768 (95% CI: 0.631-0.934), respectively. Compared with the animal food-wine pattern score Q1 group, the risk of developing HUA was increased in both Q3 and Q4 groups ( Q3 group: OR=1.224, 95% CI: 1.012-1.480; Q4 group: OR=1.312, 95% CI: 1.086-1.584). Conclusions:Dietary patterns are associated with HUA. The northern and modern patterns are related to lower SUA levels and reduced risk of HUA, while the animal food-wine pattern increases the risk of HUA.
4.Isolation of microglia from aged rat brain tissue and phenotypic identification by flow cytometry
Miaomiao Liu ; Meiqi Guan ; Lian Yu ; Xiaorong Yang ; Jie Wang ; Yanli Li
Acta Universitatis Medicinalis Anhui 2024;59(11):1967-1973
Objective:
To establish an optimized method for isolation and purification of microglia from aged rat brain tissue, and the phenotype of microglia was detected by flow cytometry.
Methods:
With young rats(3 months old) as control, the brain tissues of aged rats were immediately processed into single cell suspensions by mechanical dissociation and enzymatic digestion using type IV collagenase. Microglia were isolated on Percoll gradients(30%-37%-70%). The cells were stained with fluorescence-labeled antibodies and the phenotype of microglia was detected by flow cytometry.
Results:
This study developed a method that enzymatic digestion and mechanical dissociation combined with density gradient centrifugation. More single cells could be obtained by using this method. And the survival rate of cells was more than 90%. The flow cytometric analysis showed that the expression of M1 microglia marker CD86 and MHC Ⅱ increased(P<0.01), and the expression of M2 microglia marker CD200R increased(P<0.01) in aged rats compared with that in young rats.
Conclusion
The use of type IV collagenase and mechanical digestion combined with density gradient centrifugation is good for isolating and purifying microglia from adult and aged rat brain tissue.
5.Evaluation of efficacy of intranasal branches neurotomy of vidian nerve in persistent moderate-severe allergic rhinitis
Xuefeng LIU ; Mengsheng YANG ; Linlin CHAI ; Xudong WEI ; Jian HE ; Xiaorong DONG
Chinese Archives of Otolaryngology-Head and Neck Surgery 2024;31(8):510-514
OBJECTIVE To evaluate the efficacy of intranasal branches neurotomy of vidian nerve in the treatment of persistent moderate to severe allergic rhinitis. METHODS Cases diagnosed as persistent moderate-severe allergic rhinitis in our department were collected. those treated with branches neurotomy of vidian nerve were selected as the treatment group,and those treated with conservative medicine were selected as the control group. The visual analogue scale(VAS),rhinoconjunctivitis quality of life questionnaire(RQLQ),Nitric oxide in nose(nNO) and medication score evaluation of two groups of cases were evaluated respectively short-term(<1 year),medium-term(1 to 3 years) and long-term prognosis of outcome(3 to 5 years). RESULTS The short-term,mid-term and long-term postoperative VAS(2.26±0.75,2.30±0.63,2.49±0.57),RQLQ(0.55±0.11,0.55±0.11,1.00±0.12),nNO[(464.62±75.84)ppb,(378.63±110.21)ppb,(368.23±104.25)ppb]and medication scores (2.50±1.03,2.54±0.99,2.95±0.93) were significantly lower than those before operation[6.76±0.58,3.35±0.40,(696.64±132.69)ppb,5.17±1.50)]. The VAS,RQLQ,nNO and medication scores of the control group were lower than those of the control group at the corresponding time points(all P<0.05). One patient developed blindness in the right eye after interventional treatment due to epistaxis 21 days after operation,but no serious complications directly related to intranasal branches neurotomy of vidian nerve occurred. CONCLUSION The branches neurotomy of vidian nerve have a positive outcome in short,medium and long-term for persistent moderate to severe allergic rhinitis,the operation is safe and effective.
6.A real-world study of an ambulatory management model for vitrectomy surgery
Manqiao WANG ; Boshi LIU ; Bojie HU ; Zhaohui CHENG ; Jindong HAN ; Juping LIU ; Longli ZHANG ; Yan SHAO ; Yi SHI ; Xinjun REN ; Nan ZHANG ; Xiaorong LI
Chinese Journal of Ocular Fundus Diseases 2024;40(8):614-618
Objective:To evaluate changes in operational effectiveness after the implementation of ambulatory surgical management in pars plana vitrectomy (PPV).Methods:A retrospective clinical study. 17 528 surgeries in 10 895 eyes of 10 895 patients who underwent minimally invasive PPV on an ambulatory and/or inpatient basis at Tianjin Medical University Eye Hospital from August 2015 to June 2023 were included in this study. Among them, 5 346 eyes in 5 346 cases were male; 5 549 eyes in 5 549 cases were female. The age ranged from 0 to 95 years, with the mean age of (57.74±13.15) years. 6 381 surgeries in 3 615 eyes from August 2015 to December 2018 (the initial period of day surgery) were used as the control group; 11 147 surgeries in 7 280 eyes from January 2019 to June 2023 (the expanded period of day surgery) were used as the observation group. According to the management mode of ambulatory surgery, the observation group was subdivided into the decentralized management group (January 2019 to December 2020) and the centralized management group (January 2021 to June 2023), with 2 905 and 4 375 eyes and 4 646 and 6 501 surgeries, respectively. Changes in the percentage of day surgery, average hospitalization days, and average unplanned reoperation rate were compared. The Mann-Whitney U test was used to compare numerical variables between groups; the chi-square test or Fisher's exact test was used to compare categorical variables. Results:The number of cases of daytime PPV performed in the observation group and control group was 7 852 (70.44%, 7 852/11 147) and 24 (0.38%, 24/6 381) cases, respectively, and the average hospitalization days were 1 (1) and 5 (3) d. Compared with the control group, the observation group had a significantly higher percentage of day surgery ( χ2=8 051.01) and a considerably lower mean hospitalization day ( Z=4 536 844.50), and the differences were statistically significant ( P<0.000 1). The mean hospitalization days in the decentralized and centralized management groups were 2 (3) and 1 (0) d, respectively, and unplanned reoperations were 34 (0.73%, 34/4 646) and 171 (2.63%, 171/6 501) eyes, respectively. Compared with the decentralized management group, average hospitalization days was significantly lower ( Z=1 436.94) and unplanned reoperation rate was significantly higher ( χ2=54.10) were significantly lower in the centralized management group, both of which were statistically significant ( P<0.000 1). Conclusion:PPV ambulatory management model can significantly reduce the average hospitalization day, but also results in higher rates of unplanned reoperations.
7.Research progress of retinal pigment epithelial cell transplantation in the treatment of retinitis pigmentosa
Yunxi ZHANG ; Boshi LIU ; Dongjun XING ; Xiaorong LI
Chinese Journal of Ocular Fundus Diseases 2024;40(11):893-897
Retinitis pigmentosa (RP) is a genetic disorder of photoreceptor cell apoptosis and retinal pigment epithelium (RPE) cell atrophy caused by gene mutation. The clinical manifestations are night blindness, peripheral visual field loss and progressive vision loss. RPE cell apoptosis plays an important role in the progression of RP, and exogenous implantation of RPE cells as an alternative therapy has shown certain efficacy in animal experiments and clinical trials. With the diversification of cell sources, the update of surgical techniques and the continuous emergence of biological materials, more possibilities and hopes are provided for cell therapy. To further promote the development of this field in the future, it is still necessary to strengthen the cooperation between medicine, bioengineering and other disciplines in the future to jointly promote the innovation and development of therapeutic methods. It is believed that RPE cell transplantation therapy will show a brighter prospect in the future
8.Effects of moxibustion on CD4+T-cell proliferation by G6PD-mediated pentose phosphate pathway in adjuvant arthritis rats
Liang ZHANG ; Lingyun ZHAO ; Yiying LONG ; Jianan CAO ; Qirui QU ; Qingze WU ; Li LIU ; Xiaorong CHANG ; Kun AI ; Fang QI ; Yanping YANG
Journal of Acupuncture and Tuina Science 2024;22(4):273-279
Objective:To observe the effects of moxibustion on the levels of glucose-6-phosphate dehydrogenase(G6PD)and reduced nicotinamide adenine dinucleotide phosphate(NADPH)in the plasma and spleen and the CD4+T-cell number in the spleen of rats with adjuvant arthritis,thus to explore the mechanism in rheumatoid arthritis(RA)treatment with moxibustion by regulating the CD4+T-cell proliferation through G6PD-mediated pentose phosphate pathway. Methods:Twenty-seven male Sprague-Dawley rats were randomly divided into a blank group,a model group,and a moxibustion group,with 9 rats in each group.Incomplete Freund's adjuvant was used to induce inflammation in the model group and the moxibustion group.The blank group and the model group were not intervened.In the moxibustion group,suspended moxibustion was performed at bilateral Zusanli(ST36),Guanyuan(CV4),and Ashi points for 30 min,once a day for 24 times in total.Hematoxylin-eosin staining was used to evaluate the histopathological changes of rat synovial tissue;the swelling degree of the rat toes was observed by measuring the toe volume;G6PD and NADPH in the spleen and plasma were detected by Western blotting and enzyme-linked immunosorbent assay.Flow cytometry was used to detect the CD4+T-cell number in the spleen. Results:Compared with the blank group,the levels of G6PD and NADPH in the plasma and spleen and the CD4+T-cell number in the spleen were significantly increased in the model group(P<0.01 or P<0.05).Compared with the model group,the NADPH level in the spleen and plasma and the CD4+T-cell number in the spleen in the moxibustion group decreased significantly(P<0.05 or P<0.01),and the G6PD level in the plasma decreased significantly(P<0.05),but there was no significant difference in the G6PD level in the spleen(P>0.05). Conclusion:Moxibustion can regulate immunity and improve joint synovial inflammation in RA.The mechanism may be that the G6PD-mediated pentose phosphate pathway reduces the production of metabolite NAPDH in CD4+T cells,thereby inhibiting the proliferation of naive CD4+T cells.
9.Analysis of the baseline investigation results of the conformity rate of bacterial culture examination records in a tertiary specialized hospital in 2022
Kexin GUO ; Jinying TONG ; Yang LUO ; Yuting LIU ; Xiaorong LI ; Xin ZHOU ; Lisi XU ; Junchen HUANG ; Qing'e TIAN
Modern Hospital 2024;24(5):733-736
Objective This paper aims to investigate and analyze the baseline conformity rate of bacterial culture exami-nation records in a tertiary specialized hospital.By doing this,this paper seeks to understand the current situation of medical re-cord writing of bacterial culture examination and explore the improvement path and relevant measures for enhancing the conformity rate of bacterial culture examination records.Methods According to the requirements of"Quality Control Index of Medical Re-cord Management(2021 Edition)",a retrospective analysis was conducted on 6 317 medical records that underwent bacterial culture examination in 2022.Results The execution rate of medical orders was 100.00%,the completeness rate of the report sheet was 100.00%,the record rate of medical records was 81.05%,the analysis rate of results was 33.07%,and the conformi-ty rate of bacterial culture examination records was 33.07%.Conclusion It is imperative to enhance the conformity rate of bac-terial culture examination records and improve the quality of medical records in terms of content.
10.Efficacy and safety of eravacycline versus ertapenem in the treatment of complicated intraperitoneal infection in Chinese adults:a multicenter,randomized,double-blind phase Ⅲ bridging trial
Xiaoju LÜ ; Gang CHEN ; Shuanghai LIU ; Xiaorong LI ; Zhongtao ZHANG
Chinese Journal of Infection and Chemotherapy 2024;24(3):249-256
Objective To evaluate the efficacy and safety of eravacycline in the treatment of complicated intra-abdominal infection(cIAI)in Chinese adult patients.Methods In this multicenter,randomized,double-blind phase Ⅲ study,cIAI patients were randomly assigned to receive either eravacycline(1.0 mg/kg,q12h)or ertapenem(1 g,q24h)by intravenous infusion for 5 to 14 days.The primary and secondary efficacy endpoints included the clinical efficacy and microbiological efficacy in different populations,including modified intention-to-treat(MITT)population,clinically evaluable(CE)population,and microbiologically evaluable(ME)population,at different time points after treatment.Clinical cure rates at specific visits were summarized and compared between treatment groups in different populations.The microbial eradication rate was calculated for the patients with baseline pathogens.The incidence of adverse events(AE)and drug-related treatment emergent adverse event(TEAE)was analyzed by treatment group.Results A total of 144 patients with cIAI who received at least one dose of the study drug were included in the MITT population.The clinical cure rate was 77.8%(56/72)in eravacycline-treated patients and 90.3%(65/72)in ertapenem-treated patients at 25-31 days after the first dose(TOC visit).When the patients who received insufficient treatment(<72 hours)were excluded,the clinical cure rate was 83.6%(56/67)in eravacycline group and 90.3%(65/72)in ertapenem.For CE and ME patients,the clinical cure rate at TOC visit was 91.1%(51/56)and 83.3%(25/30)in eravacycline group,95.3%(61/64)and 90.9%(30/33)in ertapenem group.Eravacycline treatment achieved microbiological eradication rate of 91.3%(21/23)against Escherichia coli at TOC visit in micro-MITT population while ertapenem treatment resulted in a microbiological eradication rate of 96.2%(25/26).The microbiological efficacy of eravacycline and ertapenem against Klebsiella pneumoniae was 4/5 and 3/3,respectively.The incidence of TEAE was similar in eravacycline and ertapenem groups(75.0%vs.70.8%),most of which were mild or moderate.The AEs associated with eravacycline were mainly infusion site phlebitis(9.7%,7/72)and infusion site pain(8.3%,6/72).Conclusions Similar to ertapenem,eravacycline has good clinical and microbiological efficacy in treating cIAI.It is also safe and well-tolerated in the patients.


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