1.Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson’s disease
Yuwen ZHAO ; Lixia QIN ; Hongxu PAN ; Tingwei SONG ; Yige WANG ; Xiaoxia ZHOU ; Yaqin XIANG ; Jinchen LI ; Zhenhua LIU ; Qiying SUN ; Jifeng GUO ; Xinxiang YAN ; Beisha TANG ; Qian XU
Chinese Medical Journal 2024;137(4):450-456
Background::Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson’s disease (PD) risk factors; however, no comprehensive analyses of these genes in patients with PD have been undertaken. Therefore, we aimed to genetically analyze 16 dopaminergic transcription factor genes in Chinese patients with PD.Methods::Whole-exome sequencing (WES) was performed using a Chinese cohort comprising 1917 unrelated patients with familial or sporadic early-onset PD and 1652 controls. Additionally, whole-genome sequencing (WGS) was performed using another Chinese cohort comprising 1962 unrelated patients with sporadic late-onset PD and 1279 controls.Results::We detected 308 rare and 208 rare protein-altering variants in the WES and WGS cohorts, respectively. Gene-based association analyses of rare variants suggested that MSX1 is enriched in sporadic late-onset PD. However, the significance did not pass the Bonferroni correction. Meanwhile, 72 and 1730 common variants were found in the WES and WGS cohorts, respectively. Unfortunately, single-variant logistic association analyses did not identify significant associations between common variants and PD. Conclusions::Variants of 16 typical dopaminergic transcription factors might not be major genetic risk factors for PD in Chinese patients. However, we highlight the complexity of PD and the need for extensive research elucidating its etiology.
2.Polysaccharides from Chinese herbal medicine: a review on the hepatoprotective and molecular mechanism.
Jifeng LI ; Haolin GUO ; Ying DONG ; Shuo YUAN ; Xiaotong WEI ; Yuxin ZHANG ; Lu DONG ; Fei WANG ; Ting BAI ; Yong YANG
Chinese Journal of Natural Medicines (English Ed.) 2024;22(1):4-14
Polysaccharides, predominantly extracted from traditional Chinese medicinal herbs such as Lycium barbarum, Angelica sinensis, Astragalus membranaceus, Dendrobium officinale, Ganoderma lucidum, and Poria cocos, represent principal bioactive constituents extensively utilized in Chinese medicine. These compounds have demonstrated significant anti-inflammatory capabilities, especially anti-liver injury activities, while exhibiting minimal adverse effects. This review summarized recent studies to elucidate the hepatoprotective efficacy and underlying molecular mechanisms of these herbal polysaccharides. It underscored the role of these polysaccharides in regulating hepatic function, enhancing immunological responses, and improving antioxidant capacities, thus contributing to the attenuation of hepatocyte apoptosis and liver protection. Analyses of molecular pathways in these studies revealed the intricate and indispensable functions of traditional Chinese herbal polysaccharides in liver injury management. Therefore, this review provides a thorough examination of the hepatoprotective attributes and molecular mechanisms of these medicinal polysaccharides, thereby offering valuable insights for the advancement of polysaccharide-based therapeutic research and their potential clinical applications in liver disease treatment.
Humans
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Drugs, Chinese Herbal/pharmacology*
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Liver Diseases/drug therapy*
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Antioxidants
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Polysaccharides/therapeutic use*
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Medicine, Chinese Traditional
3.Recognition of unilateral auditory neuropathy in children
Ying LI ; Zhihan LIN ; Xueyao WANG ; Yang YANG ; Xiao ZHANG ; Yi ZHOU ; Xin JIN ; Zhipeng ZHENG ; Jifeng SHI ; Xuetong WANG ; Jie BAI ; Lining GUO ; Haihong LIU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2024;59(5):447-454
Objective:This study aimed to compare the audiological characteristics between children with unilateral auditory neuropathy (UAN) and single-sided deafness (SSD) to establish a valid basis for the differential diagnosis of children with UAN.Methods:A retrospective analysis was conducted on audiological and imaging evaluations of children with UAN and SSD who were treated at Beijing Children′s Hospital of Capital Medical University between May 2015 and June 2023. There were 17 children with UAN, comprising 10 males and 7 females, with an average age of 4.7 years. Additionally, there were 43 children with SSD, consisting of 27 males and 16 females, with an average age of 6.5 years. Audiological assessments included Auditory brainstem response (ABR), Steady-state auditory evoked potential (ASSR), Behavioural audiometry, Cochlear microphonic potential (CM), Distortino-product otoacoustic emission (DPOAE), and acoustic immittance test. The results of the audiological assessment and imaging phenotypic between the two groups of children were compared and analyzed by applying SPSS 27.0 statistical software.Results:(1) The UAN group (77.8%) had a significantly higher rate of ABR wave III L than the SSD group (20.9%) ( P<0.01). The PA thresholds at 500 Hz and 1 000 Hz of children with SSD were higher than those of children with UAN, while the ASSR thresholds at 500 Hz, 1000 Hz, 2 000 Hz, and 4 000 Hz of children with SSD were significantly higher than those of children with UAN ( P<0.05). (2) The degree of hearing loss in both UAN and SSD children was predominantly complete hearing loss. The percentage of complete hearing loss was significantly higher (χ2=4.353, P=0.037) in the SSD group (93.0%, 40/43) than in the UAN group (63.6%, 7/11). However, the percentage of profound hearing loss was significantly higher in the UAN group (27.3%, 3/11) than in the SSD group (2.3%, 1/43) ( Fisher′s exact test, P=0.023). In terms of hearing curve configuration, the percentage of flat type was significantly higher in the SSD group (76.7%, 33/43) than in the UAN group (36.4%, 4/11). The proportion of the UAN group (27.3%, 3/11) was significantly higher than that in the SSD group (2.3%, 1/43) in ascending type ( P<0.05). There were no statistically significant differences in the hearing curves of the declining type and other types between the two groups ( P>0.05). (3) The proportion of imaging assessment without abnormality was significantly more common in the UAN group (81.8%) than in the SSD group (37.1%) (χ2=6.695, P=0.015). Conclusions:Compared to children with SSD, the occurrence of wave III L on the ABR test was significantly more common in children with UAN. The percentage of ascending hearing curves was significantly higher in children with UAN than in children with SSD. ASSR thresholds were significantly lower in children with UAN. The normal imaging phenotype was significantly more common in children with UAN than in children with SSD.
4.Health inequity analysis in global burn incidence from 1990 to 2019
Shaobin GUO ; Yanran XU ; Jie CHEN ; Jialong DING ; Zeshan CHEN ; Guina GUO ; Jifeng LI
Chinese Journal of Plastic Surgery 2024;40(11):1206-1214
Objective:To study the regional distribution, temporal trend, and health inequity of burn incidence in the world from 1990 to 2019.Methods:The data related to burns worldwide from 1990 to 2019 were collected from the database of Global Burden of Disease (GBD). Based on the number of burn cases and age-standardized incidence rates, the incidence of burn was observed by age, region, socio-demographic index (SDI) area (divided into 5 categories of SDI areas: high, medium-high, medium, medium-low and low, the higher the area, the higher the degree of social development) and country, all of which were expressed as estimated values. Joinpoint regression analysis of the age-standardized incidence of burns from 1990 to 2019 was performed using Joinpoint 4.8.0.1 software to observe the average annual percentage change (AAPC). Rstudio software was used to analyze the Spearman correlation between the age-standardized incidence of burns and SDI from 1990 to 2019. The global inequities of burn incidence were evaluated using the slope index and concentration index from the health equity assessment toolkit, where the slope index reflected the absolute difference in burn incidence between countries with the lowest and highest SDI, and the concentration index indicated the degree to which burn incidence was concentrated in countries with low or high SDI.Results:From 1990 to 2019, the number of global burncases increased from 8 378 121.71 to 8 955 227.68, with an increase of 6.89%. However, the age-standardized incidence rate of burns showed an overall downward trend, from 149.86/100 000 in 1990 to 117.51/100 000 in 2019, with an AAPC of -0.80%. The incidence of burns in the population aged 10-19 years ranked the first in all age groups during the 30 years. Among the six regions of the world, the number of burn cases and the age-standardized incidence rate of burn in the Americas were the highest in 2019, but these two indexes were lower than those in 1999. In 2019, the number of burn patients in medium SDI areas was the highest, and the number of burn patients in low SDI areas was the lowest. The age-standardized incidence of burns was the highest in high SDI areas, and the lowest in medium-low SDI areas. From 1990 to 2019, the number of patients in high and medium-high SDI areas decreased, and the number of patients in other SDI areas increased. Compared with 1990, the age-standardized incidence rates of burns decreased in all SDI regions in 2019, with the greatest decline seen in high SDI and medium-high SDI regions. Cuba had the highest standardized incidence of burns, while Pakistan had the lowest. Spearman correlation analysis showed that from 1990 to 2019, the age-standardized incidence rates of burns in 204 countries and regions were positively correlated with SDI (all P<0.05), and the correlation coefficient decreased from 0.49 in 1990 to 0.37 in 2019. The health inequality slope index decreased from 212.90/100 000 in 1990 to 59.12/100 000 in 2019, and the concentration index decreased from 21.77% in 1990 to 8.38% in 2019. Conclusion:From 1990 to 2019, the global burn incidence rates are disproportionately concentrated in countries and regions with better development status. A significant reduction in the global burn incidence has been accompanied by a significant reduction in these inequities.
5.Health inequity analysis in global burn incidence from 1990 to 2019
Shaobin GUO ; Yanran XU ; Jie CHEN ; Jialong DING ; Zeshan CHEN ; Guina GUO ; Jifeng LI
Chinese Journal of Plastic Surgery 2024;40(11):1206-1214
Objective:To study the regional distribution, temporal trend, and health inequity of burn incidence in the world from 1990 to 2019.Methods:The data related to burns worldwide from 1990 to 2019 were collected from the database of Global Burden of Disease (GBD). Based on the number of burn cases and age-standardized incidence rates, the incidence of burn was observed by age, region, socio-demographic index (SDI) area (divided into 5 categories of SDI areas: high, medium-high, medium, medium-low and low, the higher the area, the higher the degree of social development) and country, all of which were expressed as estimated values. Joinpoint regression analysis of the age-standardized incidence of burns from 1990 to 2019 was performed using Joinpoint 4.8.0.1 software to observe the average annual percentage change (AAPC). Rstudio software was used to analyze the Spearman correlation between the age-standardized incidence of burns and SDI from 1990 to 2019. The global inequities of burn incidence were evaluated using the slope index and concentration index from the health equity assessment toolkit, where the slope index reflected the absolute difference in burn incidence between countries with the lowest and highest SDI, and the concentration index indicated the degree to which burn incidence was concentrated in countries with low or high SDI.Results:From 1990 to 2019, the number of global burncases increased from 8 378 121.71 to 8 955 227.68, with an increase of 6.89%. However, the age-standardized incidence rate of burns showed an overall downward trend, from 149.86/100 000 in 1990 to 117.51/100 000 in 2019, with an AAPC of -0.80%. The incidence of burns in the population aged 10-19 years ranked the first in all age groups during the 30 years. Among the six regions of the world, the number of burn cases and the age-standardized incidence rate of burn in the Americas were the highest in 2019, but these two indexes were lower than those in 1999. In 2019, the number of burn patients in medium SDI areas was the highest, and the number of burn patients in low SDI areas was the lowest. The age-standardized incidence of burns was the highest in high SDI areas, and the lowest in medium-low SDI areas. From 1990 to 2019, the number of patients in high and medium-high SDI areas decreased, and the number of patients in other SDI areas increased. Compared with 1990, the age-standardized incidence rates of burns decreased in all SDI regions in 2019, with the greatest decline seen in high SDI and medium-high SDI regions. Cuba had the highest standardized incidence of burns, while Pakistan had the lowest. Spearman correlation analysis showed that from 1990 to 2019, the age-standardized incidence rates of burns in 204 countries and regions were positively correlated with SDI (all P<0.05), and the correlation coefficient decreased from 0.49 in 1990 to 0.37 in 2019. The health inequality slope index decreased from 212.90/100 000 in 1990 to 59.12/100 000 in 2019, and the concentration index decreased from 21.77% in 1990 to 8.38% in 2019. Conclusion:From 1990 to 2019, the global burn incidence rates are disproportionately concentrated in countries and regions with better development status. A significant reduction in the global burn incidence has been accompanied by a significant reduction in these inequities.
6.Practical study on reconstruction of the regional anatomy course system based on clinical practice ability
Jifeng ZHANG ; Wenbin ZHANG ; Jin GONG ; Xiaofei ZHENG ; Guoqing GUO
Chinese Journal of Medical Education Research 2023;22(4):556-559
Regional anatomy teaching not only requires students to deal with the basic knowledge of human body including the level, location and adjacent relationship, but also to understand the clinical application of anatomical structure. Based on the four aspects of field anatomy, simulated surgery, clinical application lectures and CBL teaching, this study formulated a suitable assessment method to reconstruct the teaching system of regional anatomy relying on the improvement of the laboratory environment and the teacher team, aiming at cultivating students' clinical practice ability as the core and building a new regional anatomy course to meet the teaching needs of the new era.
7.PINK1 kinase dysfunction triggers neurodegeneration in the primate brain without impacting mitochondrial homeostasis.
Weili YANG ; Xiangyu GUO ; Zhuchi TU ; Xiusheng CHEN ; Rui HAN ; Yanting LIU ; Sen YAN ; Qi WANG ; Zhifu WANG ; Xianxian ZHAO ; Yunpeng ZHANG ; Xin XIONG ; Huiming YANG ; Peng YIN ; Huida WAN ; Xingxing CHEN ; Jifeng GUO ; Xiao-Xin YAN ; Lujian LIAO ; Shihua LI ; Xiao-Jiang LI
Protein & Cell 2022;13(1):26-46
In vitro studies have established the prevalent theory that the mitochondrial kinase PINK1 protects neurodegeneration by removing damaged mitochondria in Parkinson's disease (PD). However, difficulty in detecting endogenous PINK1 protein in rodent brains and cell lines has prevented the rigorous investigation of the in vivo role of PINK1. Here we report that PINK1 kinase form is selectively expressed in the human and monkey brains. CRISPR/Cas9-mediated deficiency of PINK1 causes similar neurodegeneration in the brains of fetal and adult monkeys as well as cultured monkey neurons without affecting mitochondrial protein expression and morphology. Importantly, PINK1 mutations in the primate brain and human cells reduce protein phosphorylation that is important for neuronal function and survival. Our findings suggest that PINK1 kinase activity rather than its mitochondrial function is essential for the neuronal survival in the primate brains and that its kinase dysfunction could be involved in the pathogenesis of PD.
8.Efficacy and safety of obinutuzumab for the first-line treatment of follicular lymphoma: a subgroup analysis of Chinese patients enrolled in the phase III GALLIUM study
Xiaonan HONG ; Yuqin SONG ; Yuankai SHI ; Qingyuan ZHANG ; Wei GUO ; Gang WU ; Junmin LI ; Jifeng FENG ; Anastasiia KINKOLYKH ; Andrea KNAPP ; Tongyu LIN
Chinese Medical Journal 2022;135(4):433-440
Backgrounds::GALLIUM is a global phase III study that demonstrated significant improvements in progression-free survival (PFS) for obinutuzumab plus chemotherapy (G-chemo) vs. rituximab plus chemotherapy (R-chemo) in previously untreated patients with follicular lymphoma (FL). This study aimed to report the results of a subgroup of patients in China. Methods::Patients were randomized to G-chemo or R-chemo. Responders received maintenance therapy for 2 years or until disease progression. The primary endpoint was investigator (INV)-assessed PFS. Secondary endpoints included the overall response rate (ORR) and complete response rate (CRR) at the end of induction chemotherapy, overall survival (OS), and safety.Results::Overall, 58 patients with FL were randomized to the G-chemo ( n = 25) and R-chemo arms ( n = 33). The INV-assessed PFS rate at 3 years was 81.8% in the G-chemo arm, vs. 70.2% in the R-chemo arm (hazard ratio 0.35; 95% confidence interval: 0.09-1.34; P = 0.1120). The INV-assessed CRRs (without positron emission tomography [PET]) in these arms were 24.0% and 21.2%, respectively, whereas the ORRs were 80.0% and 90.9%, respectively. INV-assessed CRR-PET was 52.6% in the G-chemo, vs. 60.9% in the R-chemo. Median OS was not reached in either arm. Grade 3 to 5 adverse events were more frequent in the R-chemo arm (97.0% vs. 88.0%). Conclusions::The results of this subgroup analysis were consistent with those of the global population, and they suggest that G-chemo has a positive benefit-risk profile in patients from China with FL.Trial registration::ClinicalTrials.gov, No. NCT01332968.
9.On the reform of the personnel training mode of forensic medical undergraduates
Xiangyan ZHANG ; Yanjie SHANG ; Qiongshan MA ; Jifeng CAI ; Yadong GUO
Chinese Journal of Medical Education Research 2022;21(6):649-653
There are many problems in the training mode of traditional forensic undergraduates, such as the lag of curriculum setting, the lack of interdisciplinary and the lack of practical training. Based on the teaching practice of forensic undergraduates in Central South University, this study puts forward the following four reform schemes: ①advancing the setting of forensic medicine curriculum to strengthen the integration of specialized courses with basic medicine and clinical medicine courses; ②increasing related courses to intensify interdisciplinary teaching; ③introducing online teaching mode of virtual simulation to enrich the content of undergraduate forensic medical education; ④expanding the scope of joint classroom teaching inside and outside the school to realize the two-way rapid update of practical and theoretical resources. The purpose of this paper is to provide new ideas and directions for training forensic talents who are more suitable for the development of the times.
10.Clinical features of infant cytomegalovirus infection
Ting LIU ; Yuebing LU ; Jifeng YU ; Ping LI ; Shuang SUN ; Honghui CAO ; Yanhong GUO ; Xiantao SUN
Chinese Journal of Ocular Fundus Diseases 2022;38(7):573-577
Objective:To observe the ocular clinical features of infantile cytomegalovirus (CMV) infection.Methods:A retrospective clinical study. From March 2019 to July 2021, 876 eyes of 438 children with CMV infection who visited Department of Ophthalmology of Henan Provincial Children's Hospital were included in the study. Among them, there were 254 males and 184 females; the age ranged from 3 days to 11 months; the gestational weeks were 28 to 42 weeks; the birth weight was 1 120 to 8 900 g. There were 384 and 54 full-term and premature infants, respectively. Fundus examination was performed in 385 cases (770 eyes) after medical consultation; 53 cases (106 eyes) of premature infants were routinely screened. CMV retinitis (CMVR) was divided into granular type and fulminant type. Patients with CMV-related diseases with moderate to severe symptoms were given intravenous drip and/or oral ganciclovir; patients with severe fundus vasculitis were combined with intravitreal injection of ganciclovir. The follow-up period was from 4 to 28 months, and the characteristics of eye lesions, systemic comorbid diseases and treatment outcomes were observed.Results:There were 516 eyes of 258 cases with normal fundus (58.9%, 258/438); 291 eyes of 180 cases with CMVR (41.1%, 180/438), of which binocular and monocular were 111 (61.7%, 111/180) and 69 (38.3%, 69/180) cases. Among the 291 eyes of CMVR, 281 eyes (96.6%, 281/291) of granular type; yellow-white point-like opacity and/or retinal hemorrhage; 10 eyes (3.4%, 10/291) of fulminant type; fundus Showed a typical "cheese ketchup-like" and vascular white sheath-like changes. Among the 180 children with CMVR, 72 patients (118 eyes) were given systemic intravenous drip and/or oral ganciclovir; 5 patients (10 eyes) were given intravitreal ganciclovir, all of which were fulminant CMVR. At the last follow-up, fundus lesions regressed significantly in 100 eyes of 61 cases; 18 eyes of 11 cases had old lesions or uneven retinal pigment; 108 cases were not treated.Conclusion:The most common fundus manifestation of CMV infection in infants is granular retinitis, and fulminant retinitis is more severe, and the lesions can be significantly regressed after timely antiviral treatment.

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