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.Research report of living donor kidney harvesting in Bama miniature pigs with six gene modified
Yong XU ; Xiangyu SONG ; Heng’en WANG ; Shujun YANG ; Zhibo JIA ; Hao WEI ; Shengfeng CHEN ; Mengyi CUI ; Yanling REN ; Jiang PENG ; Shengkun SUN
Organ Transplantation 2024;15(2):229-235
Objective To summarize the experience and practical value of living donor kidney harvesting in Bama miniature pigs with six gene modified. Methods The left kidney of Bama miniature pigs with six gene modified was obtained by living donor kidney harvesting technique. First, the ureter was occluded, and then the inferior vena cava and abdominal aorta were freed. During the harvesting process, the ureter, renal vein and renal artery were exposed and freed in sequence. The vascular forceps were used at the abdominal aorta and inferior vena cava, and the renal artery and vein were immediately perfused with 4℃ renal preservation solution, and stored in ice normal saline for subsequent transplantation. Simultaneously, the donor abdominal aorta and inferior vena cava gap were sutured. The operation time, blood loss, warm and cold ischemia time, postoperative complications and the survival of donors and recipients were recorded. Results The left kidney of the genetically modified pig was successfully harvested. Intraoperative bleeding was 5 mL, warm ischemia time was 45 s, and cold ischemia time was 2.5 h. Neither donor nor recipient pig received blood transfusion, and urinary function of the kidney transplanted into the recipient was recovered. The donor survived for more than 8 months after the left kidney was resected. Conclusions Living donor kidney harvesting is safe and reliable in genetically modified pigs. Branch blood vessels could be processed during kidney harvesting, which shortens the process of kidney repair and the time of cold ischemia. Living donor kidney harvesting contributes to subsequent survival of donors and other scientific researches.
3.Textual Research on Principle of Dose Conversion in Ancient Famous Classical Formulas
Lin ZHANG ; Ruoshui TANG ; Jia SONG ; Huamin ZHANG ; Yanling FU
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(10):196-202
Due to the difference between the system of weights and measures, and the dosage of clinical prescriptions of traditional Chinese medicine in various historical periods, the dosage and conversion standard of prescriptions in past dynasties are different. Therefore, when discounting the dosage of famous classical formulas, the principles of inheriting the essence, making the past serve the present, linking the past and the present, and forming a consensus should be followed, firstly, the dosage of the prescription was converted according to the weights and measures system of the past dynasties. If the converted dosage significantly exceeds the provisions of the 2020 edition of Chinese Pharmacopoeia, then on the premise of ensuring that the proportion of the original prescription drug dosage remains unchanged, the conversion shall be based on expert consensus and drug safety evaluation. For drugs measured in non-standard units, a conversion range is provided based on comprehensive literature analysis and physical measurements. For the conversion of service volume, the original text was used as the basis for the conversion with reference to the measurement standards of different eras. If the original dosage is not clear, the converted dosage will be determined based on the historical evolution of the formula, referring to relevant ancient books, and combining modern applications. Eventually, the converting standard for famous classical formulas was determined as follows:during the Han and Tang dynasties, one Liang(两) was equivalent to 13.8 g and one Sheng(升) was equivalent to 200 mL, in the Tang dynasty, one Fen(分) was equivalent to 3.45 g, during the Song, Jin and Yuan dynasties, one Qian(钱) was equivalent to 4.13 g and one Zhan(盏) was equivalent to 300 mL, during the Ming and Qing dynasties, one Qian(钱) was equivalent to 3.73 g, and one Bei(杯) and one Zhong(盅) were equivalent to 200 mL. For drugs recorded in non-standard units of measurement, it is necessary to conduct actual measurements to determine their conversion standards based on comprehensive analysis to determine their origin. If necessary, different records of the dosage of drugs with the same or similar efficacy and indications in medical books of similar ages can be used to assist in determining the conversion standards. The analysis of the principle of dosage conversion for Chinese medicine is helpful for the clinical application and development of famous classical formulas.
4.FOS expression in oxytocin and vasopressin positive neurons in paraventricular nucleus of mice induced by diabetes
Shumin WANG ; Peng JIA ; Shuting REN ; Siting LYU ; Ting ZHANG ; Yanling YANG ; Juan SHI
Chinese Journal of Neuroanatomy 2024;40(1):35-42
Objective:To explore the feature of FOS expression in oxytocin-and vasopressin-positive neurons in the hypothalamic paraventricular nucleus(PVN)under different status of diabetes mellitus(DM).Methods:Intraperito-neal injection of vehicle or STZ in mice was conducted to establish control or diabetes model.Mechanical sensitivity was evaluated by von Frey filament tests to distinguish diabetic neuropathic pain(DNP)from without-pain group(DWP).The expression of FOS,oxytocin(OXT)-and vasopressin(VP)-positive neurons,as well as their double labeling was detected by immunohistochemical and immunofluorescent staining.Cell counting and comparison were made in groups.Results:FOS expression was easily detected in the PVN in the three groups(Control group,DNP group and DWP group)at 7 days,while that in DWP and DNP groups at 28 days was hardly detectable,with the number being signifi-cantly different from the 7 days group(P<0.05 or 0.001).Likewise,compared with the control group,immunofluo-rescent signals for VP and OXT staining in the DNP and DWP groups also showed a trend of weakening as the modeling time increased(P<0.05).The cell counting after double staining for VP or OXT with FOS showed that,in the DWP group at 7 days,the number of VP and FOS double-labeled neurons was 74.33±22.10,accounting for(56.64± 7.52)%of VP-positive cells,whereas the double labeling rate for OXT and FOS was only(10.44±3.14)%.In the DNP group at 7 days,the number of OXT and FOS double-labeled neurons was 51.00±31.80,accounting for(18.50 ±9.51)%of OXT-positive neurons,whereas the double labeling rate for VP and FOS was only(9.34±3.27)%.In contrast to these changes in 7 days group,the expression of FOS decreased sharply in the group of 28 days,thereby al-most no double-labeled neurons.Conclusion:The plasticity changes of oxytocin-and vasopressin-positive neurons in the PVN are different depending on the status of pain and non-pain,and the stage of disease progression.Understanding the changes is of great significance for unravelling the neural mechanism of diabetes and its complications.
5.Analysis on the Dosage, Dose and Administration Method of Decoctions in Ming and Qing Dynasties Based on Catalogue of Ancient Classic Famous Formulas (First Batch)
Lin ZHANG ; Ruoshui TANG ; Wei ZHANG ; Bing LI ; Zhilai ZHAN ; Jia SONG ; Yanling FU ; Huamin ZHANG
Journal of Traditional Chinese Medicine 2024;65(8):866-869
The dosage, dose and administration method of decoctions are important factors affecting the efficacy of prescriptions. By analyzing 35 decoction formulas from the Ming and Qing dynasties within the Catalogue of Ancient Classic Famous Formulas (First Batch), it was found that the average dosage was equivalent to about 65 g, of which 71.4% (25/35) of the prescriptions had a dosage ≤60 g. And among them, the dosage of decoctions in the Ming dynasty was significantly smaller than that in the Qing dynasty. Considering the characteristics of formulas in Song dynasty, it is believed that decoctions in Ming and Qing dynasties were influenced by the popular use of decoctions during the Song, Jin, and Yuan dynasties. Some decoctions recorded a dosage of one dose instead of one day, which was more evident in the Ming dynasty. However, by the Qing dynasty, the usage of prescriptions with a dosage of one day gradually became more common. Therefore, in the practical research and application of classic famous formulas from the Ming and Qing dynasties, it is advised to pay attention to the difference between the dosage, one dose and the daily dosage. It is necessary to determine whether to double the dosage of the original formula based on the actual use, in order to ensure the clinical efficacy.
6.Ultrasound shear wave elastography of skin in diagnosis of lymphedema of lower extremity: a preliminary study
Jiaping LI ; Jia LUO ; Manying LI ; Jian QI ; Xiang ZHOU ; Qiushuang LI ; Shaozhen CHEN ; Xiaoyan XIE ; Yanling ZHENG
Chinese Journal of Microsurgery 2024;47(4):382-387
Objective:To explore a better measurement mode of shear wave elastography (SWE) in the skin of lymphedema limbs, and to test its diagnostic efficacy in lymphedema.Methods:Between 1st and 10th August, 2023, 22 healthy volunteers were recruited in the Department of Medical Ultrasonics, Institute of Diagnostic and Interventional Ulrasound, the First Afiliaed Hospital of Sun Yat-Sen University to measure the Young's modulus (E-value) of limb skin by SWE using a gel pad (GP group) and the thick-layer coupling gel (CG group) respectively. Then between 15th August and 28th September, 2023, 11 patients with 13 lower limb lymphedema, who were treated in the Department of Microsurgery, Orhopaedic Trauma and Hand Surgery, the First Affiliaed Hospital of Sun Yat-Sen University, were consecutively enrolled to find out the E-value of skin in oedematous limbs. The receiver operating characteristic curve (ROC) was constructed and the sensitivity, specificity, positive predictive value, negative predictive value and accuracy were calculated to evaluate the diagnostic efficiency. SPSS 26.0, R studio and GraphPad Prism 8 software were used for statistical analysis. Paired sample non-parametric test (Wilcoxon signed rank test) was used to compare the difference in E-value between the 2 groups. P<0.01 was considered statistically significant. Spearman correlation test was used to analyse the correlation of E-value values between the GP group and CG group. Results:Overall, it was found from the healthy volunteers that E-value of skin in distal limbs were higher than that in proximal limbs, especially in lower extremities. E-value of all scanned location in GP group were found higher than those of CG group with statistically significant difference ( P<0.01), and the values of interclass correlation coefficient (ICC) showed a good repeatability. The 11 patients with lymphedema in 13 lower extremities were examined with the thick-layer coupling gel. The skin E-value in calf of patients with lymphedema were significantly higher than that of the healthy volunteers ( P<0.01), except the skin of thighs ( P>0.01). A lymphedema was diagnosed while either a skin E-value was 27.6 kPa calculated by Youden index or with the thickness of skin was 2.3 mm. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy in the diagnosis of a lymphedema were found at 92.3%, 100%, 100%, 95.7% and 97.1%, respectively. The area under curve (AUC) of ROC was 0.962. The correlation coefficients (R) of E-value in arm, forearm, thigh and lower leg in the GP group and CP group were 0.665, 0.882, 0.850 and 0.815, respectively, which were all significantly correlated. Conclusion:Application of thick layer coupler in ultrasound skin SWE is highly feasible, and the combination of ultrasound skin SWE and skin thickness has higher diagnostic efficiency in the diagnosis of lower extremities lymphedema. It allows more accurate ultrasonic image technical support for early monitoring and diagnosis of lymphedema, microsurgical treatment and a quantitatively perioperative evaluation.
7.A cross-secitonal study on electronic cigarette use among adolescentsin Haidian District
Yijie XIONG ; Lina XU ; Lixia BAI ; Wenjuan ZHOU ; Jia LIU ; Yanling WU
Journal of Preventive Medicine 2022;34(5):471-474
Objective:
To investigate the prevalence and influencing factors of electronic cigarette (e-cigarette) use among adolescents in Haidian District, Beijing, so as to provide insights into tobacco control among adolescents.
Methods:
The students in junior high school, high school and vocational high school were recruited from Haidian District using the stratified cluster random sampling method in October of 2019, and subjects' demographic features and use of e-cigarettes were collected using the Questionnaire for Survey on Tobacco Prevalence among Adolescents in China in 2019. The factors affecting e-cigarette use were identified among adolescents using the multivariable logistic regression analysis.
Results:
A total of 658 adolescents were investigated, including 315 junior high school students ( 47.87% ), 221 high school students ( 33.59% ), and 122 vocational high school students ( 18.54% ), and there were 261 boys ( 39.66% ), and 397 girls ( 60.34% ). There were 605 students that had heard of electronic cigarettes ( 91.95% ), 63 students that had used e-cigarettes (9.57%), and 23 students with current use of e-cigarettes ( 3.50% ), and there were 39 students that had never used electronic cigarettes but had a tendency of use in the future ( 6.55% ). Multivariable logistic regression analysis identified parental smoking ( OR=2.408, 95%CI: 1.179-4.916 ), close friends' smoking ( OR=3.597, 95%CI: 1.715-7.544 ) and cigarette smoking ( OR=23.029, 95%CI: 11.092-47.812 ) as factors affecting e-cigarette use among adolescents.
Conclusions
The prevalence of electronic cigarette uses is 9.57% among adolescents in Haidian District, Beijing. Parental smoking, peer smoking and use of cigarettes may facilitate the use of e-cigarettes among adolescents.
8.A clinical study on the efficacy and safety of camrelizumab combined with stereotactic body radiation therapy in the treatment of advancedoligometastaticnon-small cell lung cancer
Jie CHEN ; Desheng LIU ; Yuming JIA ; Maoyue FU ; Yanling SHU
Chinese Journal of Postgraduates of Medicine 2022;45(6):554-559
Objective:To investigate the efficacy and safety of camrelizumab combined with stereotactic body radiation therapy (SBRT) in the treatment of advanced oligometastaticnon-small cell lung cancer (NSCLC).Methods:Eighty-six patients with advanced oligometastatic NSCLC who met the inclusion and exclusion criteria from March 2020 to August 2021 in the Second People′s Hospital of Yibin were divided into the control group (43 cases) and the treatment group (43 cases) according to the random number table method, the control group was given camrelizumab combined with conventional radiotherapy, and the treatment group was given camrelizumab combined with SBRT. After 8 weeks of treatment, the efficacy of the two groups was evaluated, the occurrence of side effects in the two groups was counted, the serum tumor markers [carcinoembryonic antigen (CEA), squamous cell carcinoma antigen (SCC-Ag), cytokeratin 19 fragment anti-21-1 (CYFRA21-1)] levels were detected.Results:The objective effective rate of the treatment group was significantly higher than that of the control group:: 72.09% (31/43) vs. 51.16%(22/43), the difference was statistically significant ( P<0.05); the incidence of radiation pneumonia in the treatment group was significantly lower than that in the control group: 4.65% (2/43) vs. 18.60% (8/43), the difference was statistically significant ( P<0.05), and there was no significant difference in the incidences of other side effects such as cutaneous capillary endothelial proliferation (CCEP), liver damage, hypothyroidism, and radiation esophagitisbetween the treatment group and the control group ( P>0.05); the levels of serum CEA, SCC-Ag, CYFRA21-1after treatmentin the two groups were significantly lower than those before treatment, treatment group: treatmentgroup: (8.81 ± 4.82) ng/L vs. (81.67 ± 50.88) ng/L, (1.13 ± 0.55) ng/L vs. (1.56 ± 1.03) ng/L and (2.92 ± 0.99) ng/L vs. (4.63 ± 1.39) ng/L, controlgroup: (30.49 ± 19.44) ng/L vs. (89.91 ± 50.10) ng/L, (1.56 ± 1.23) ng/L vs. (1.86 ± 1.33) ng/L and (4.01 ± 2.10) ng/L vs. (5.03 ± 3.44) ng/L. and the levels after treatment in the treatment group were significantly lower than those in the control group, and there were statistical differences ( P<0.05). Conclusions:Camrelizumab combined with SBRT treatment for patients with advanced oligometastatic NSCLC can effectively reduce the levels of serum CEA, SCC-Ag, CYFRA21-1, and significantly improve the short-term efficacy, with relatively low incidence of toxic side effects.
9.Application of 6S and PDCA cycle lean management in nursing management of orthopedic trauma surgery
Yu CHENG ; Jia ZHAO ; Yali RAN ; Yingying TANG ; Liu LUO ; Yanling XIANG
Chinese Journal of Trauma 2022;38(5):452-457
Objective:To explore the application effect of 6S and PDCA cycle lean management in nursing management of orthopaedic trauma surgery.Methods:A retrospective cohort study was conducted to analyze the clinical data of 80 patients with orthopedic trauma admitted to University-Town Hospital of Chongqing Medical University from January 2020 to November 2021, including 51 males and 29 females; aged 23-68 years [(44.5±9.2)years]. According to the order of operation date, 40 patients from January 2021 to November 2021 received routine management plus 6S and PDCA cycle lean management (lean management group), and 40 patients from January 2020 to December 2020 received routine surgical nursing management (routine management group). The nursing quality score in operating room (instrument and equipment management, surgical instrument preparation, surgical coordination, disinfection and isolation), qualified rate of infection monitoring in operating room (air in operating room, hand hygiene of medical staffs and sterile articles in operating room), surgeons′ satisfaction with operating nurses (circulating nurses and scrub nurses), self- rating anxiety scale (SAS) of patients before operation, incidence of complications at postoperative 12 days and patients′ satisfaction with nurses in operating room at postoperative 2-3 days.Results:The four dimensions of the nursing quality score in operating room in lean management group were (27.8±1.5)points, (18.1±1.1)points, (26.6±1.5)points and (18.1±0.8)points, significantly higher than (23.7±2.3)points, (14.6±1.1)points, (22.4±1.8)points and (13.7±1.1)points in routine management group (all P<0.01). The three dimensions of qualified rate of infection monitoring in operating room in lean management group were all 100%, showing no significant differences in routine management group (75%, 100%, 100%) (all P>0.05). Surgeons′ satisfaction with circulating nurses and scrub nurses in lean management group was 90% and 85%, higher than 73% and 65% in routine management group (all P<0.05). Preoperative SAS in lean management group was (32.5±8.2)points, significantly lower than (54.6±10.7)points in routine management group ( P<0.01). The incidence of postoperative complications in lean management group was 0, significantly lower than 15%(6/40) in routine management group ( P<0.05). Patients′ satisfaction with nurses in operating room in lean management group was 95% (38/40), significantly higher than 78%(31/40) in routine management group ( P<0.05). Conclusion:6S and PDCA cycle lean management can effectively improve the nursing quality of orthopedic trauma surgery, reduce patients′ anxiety and postoperative complications, and improve surgeons′ and patients′ satisfaction, which is worthy of further clinical application.
10.Addendum: A phase II trial of cytoreductive surgery combined with niraparib maintenance in platinum-sensitive, secondary recurrent ovarian cancer: SGOG SOC-3 study
Tingyan SHI ; Libing XIANG ; Jianqing ZHU ; Jihong LIU ; Ping ZHANG ; Huaying WANG ; Yanling FENG ; Tao ZHU ; Yingli ZHANG ; Aijun YU ; Wei JIANG ; Xipeng WANG ; Yaping ZHU ; Sufang WU ; Yincheng TENG ; Jiejie ZHANG ; Rong JIANG ; Wei ZHANG ; Huixun JIA ; Rongyu ZANG
Journal of Gynecologic Oncology 2022;33(4):e63-


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