1.Research progress in the immune escape mechanism of Trichinella spiralis
Yan-Hong QIAN ; Shuai SONG ; Xiao-Hui WEN ; Chun-Ling JIA ; Dian-Hong LYU ; Zi-Guo YUAN ; Sheng-Jun LUO
Chinese Journal of Zoonoses 2024;40(1):70-75
Trichinosis is a global food-borne zoonotic parasitic disease caused by Trichinella spiralis(T.spiralis),which causes serious harm to animal production,and the public health safety of humans and animals.T.spiralis has a complex devel-opment history,and its entire life cycle is completed in the same host.To coexist with the host,it has evolved various immune escape mechanisms for avoiding immune clearance by the host,thus establishing long-term chronic infection.In this study,to aid in understanding the pathogenic mechanism of T.spiralis,the immune escape mechanism of Trichinella is discussed from three aspects:the molecular role of antigens in various stages,the immune regulatory effect on the host,and the formation of cysts to generate immune isolation.
2.Analysis on genetic etiology of disorders of sex development using whole exome sequencing
Liu-Jiao WU ; Chan-Chan JIN ; Shu ZHU ; Wen-Ming HUANG ; Jian-Hong YE ; Tao LYU ; Bao-Sheng ZHU ; Jing HE
Medical Journal of Chinese People's Liberation Army 2024;49(5):495-503
Objective To elucidate the molecular genetic etiology of patients with disorders of sex development(DSD)using whole exome sequencing(WES),thereby enhancing our understanding of the underlying mechanisms of sexual development abnormalities.Methods Retrospective analysis was conducted on clinical data of 60 DSD patients diagnosed in the First People's Hospital of Yunnan Province between March 2008 and August 2021,with an additional family study for one proband.Genomic DNA was extracted from patients for WES analysis.Single nucleotide polymorphism(SNP)and insertions/deletion(InDel)tests were identified using SAMtools software in conjunction with established SNP and InDel databases.Copy number variations(CNVs)at the exon level were detected using ExomeDepth,while the potential pathogenicity of mutations was predicted with PolyPhen-2,Mutation taster and PyMol software,with Sanger sequencing employed for confirmation.Results The study included 22 patients with 46,XX DSD and 38 with 46,XY DSD.Among the 46,XX DSD patients,the SRY gene was detected in 14 patients.In the remaining 8 patients and a proband's families,single nucleotide site variations(SNVs)of NR5A1,PROKR2 and ANOS1 genes were identified in 2 patients,and CNVs in CYP21A2 gene were found in 4 patients.The pathogenicity of CYP21A2 EX1 Dup has been previously reported,while the remaining 3 CNVs were of uncertain significance,and no DSD-related mutations were detected in 2 patients.In the WES analysis of 46,XY DSD patients,10 pathogenic or likely pathogenic SNVs across 5 genes(SRY,AR,SRD5A2,CYP17A1,and NR5A1)were identified in 14 patients.Additionally,5 likely pathogenic CNVs involving the CYP21A2,AKR1C2,CBX2,and NR5A1 genes were detected in 5 patients,comprising 3 deletions and 2 duplications.Novel SNVs in NR5A1(c.722G>T,c.48C>G)and ANOS1 c.564A>T were identified,with no prior reports in relevant databases.The pathogenicity of CYP21A2 EX1 Dup is documented in related databases,while the remaining CNVs have not been previously reported.Conclusion The utilization of WES technology has enhanced the diagnostic potential for DSD,broadened the spectrum of known DSD-related gene mutations,and deepened our comprehension of DSD pathogenesis,offering valuable support for genetic counseling.
3.Association between internet use and healthy lifestyles in urban adults in Hangzhou, China
Yanjun REN ; Hong XU ; Xiaohong ZHOU ; Xuefei SHENG ; Yuanyuan ZHAO ; Huami ZHANG ; Baohua HE ; Xing SU ; Jun LYU
Chinese Journal of Epidemiology 2023;44(9):1426-1433
Objective:To explore the association between internet use and healthy lifestyles in urban adults.Methods:From May to August, 2022, a face-to-face questionnaire survey was conducted in residents aged 18-64 years selected in the urban area of Hangzhou by integrated cluster stratified random sampling and Kish grid method. The information about internet use included the internet use time in the past 7 days and 12 kinds of internet use contents. Using factor analysis and K-means clustering, three types of internet use were summarized, i.e. general type, video game type and working/learning type. Healthy lifestyles were defined as active physical activity, healthy diet habit, non-smoking, non-drinking, healthy weight, and healthy waist circumference. The correlations between internet use and healthy lifestyles were evaluated by using binary logistic regression and multinomial logistic regression analyses.Results:A total of 1 624 participants were included. After adjusting for potential confounding factors, the longer internet use time group (≥8.5 h/d) was less likely to have healthy weight ( OR=0.59, 95% CI:0.41-0.85) and 5-6 healthy lifestyles ( OR=0.55, 95% CI: 0.32-0.96) compared with those with shorter internet use time group (<2.5 h/d). For different types of internet use, it was found that compared with working/learning type group, the general type group was less likely to have healthy diet habits ( OR=0.63, 95% CI: 0.46-0.86), non-drinking ( OR=0.68, 95% CI: 0.47-0.99), healthy waist circumference ( OR=0.59, 95% CI: 0.42-0.84) and 5-6 healthy lifestyles ( OR=0.40, 95% CI: 0.23-0.69), the video game type group was less likely to have active physical activity ( OR=0.73, 95% CI: 0.55-0.97) and healthy diet habits ( OR=0.79, 95% CI: 0.62-0.99). Conclusion:Too long internet use (≥8.5 h/d), general type and video game type of internet use were associated with unhealthy lifestyles.
4.Curative effect of full-femtosecond small incision lenticule extraction on the treatment of high myopia based on propensity score matching
Peng LYU ; Yu-Hong CHEN ; Hao XU ; Zhen-Fang JIANG ; Wei-Xia XIAO ; Sheng-Mei LU ; Hong NIE ; Ning-Yan BAI
International Eye Science 2023;23(9):1555-1559
AIM: To analyze the effect of full-femtosecond small incision lenticule extraction(SMILE)on the treatment of high myopia based on propensity score matching.METHODS: A total of 48 cases(48 eyes)of high myopia patients who underwent SMILE surgery in our hospital from May 2019 to May 2021 were selected as the observation group, and 48 cases(48 eyes)of high myopia patients who underwent FS-LASIK surgery were matched using propensity score matching as the control group. Follow up for 6mo after surgery, the changes in cylindrical, central corneal thickness, uncorrected visual acuity(UCVA), corneal endothelial cell related indicators [percentage of hexagonal endothelial cells(6A), coefficient of variation(CV)of endothelial cell area, central corneal endothelial cell density(ECD)] and corneal biomechanical indicators [simulated Goldman intraocular pressure(IOPg), corneal hysteresis(CH), corneal resistance factor(CRF), corneal compensated intraocular pressure(IOPcc)] between the two groups were compared, and the incidence of complications in both groups of patients was recorded.RESULTS: Both groups of patients showed significant improvements in cylindrical and UCVA at 3 and 6mo after surgery, as well as decreased central corneal thickness, corneal endothelial cells, and corneal biomechanics related indicators. The changes in the observation group were more significant(all P<0.05). During the follow-up period, there was no significant difference in the incidence of complications between the observation group and the control group(8% vs. 17%, P>0.05).CONCLUSION: SMILE has a definite effect on patients with high myopia and is helpful to improve visual acuity.
5.A descriptive analysis on hypertension in adult twins in China.
Yu Tong WANG ; Wei Hua CAO ; Jun LYU ; Can Qing YU ; Sheng Feng WANG ; Tao HUANG ; Dian Jian Yi SUN ; Chun Xiao LIAO ; Yuan Jie PANG ; Zeng Chang PANG ; Min YU ; Hua WANG ; Xian Ping WU ; Zhong DONG ; Fan WU ; Guo Hong JIANG ; Xiao Jie WANG ; Yu LIU ; Jian DENG ; Lin LU ; Wen Jing GAO ; Li Ming LI
Chinese Journal of Epidemiology 2023;44(4):536-543
Objective: To describe the distribution characteristics of hypertension among adult twins in the Chinese National Twin Registry (CNTR) and to provide clues for exploring the role of genetic and environmental factors on hypertension. Methods: A total of 69 220 (34 610 pairs) of twins aged 18 and above with hypertension information were selected from CNTR registered from 2010 to 2018. Random effect models were used to describe the population and regional distribution of hypertension in twins. To estimate the heritability, the concordance rates of hypertension were calculated and compared between monozygotic twins (MZ) and dizygotic twins (DZ). Results: The age of all participants was (34.1±12.4) years. The overall self-reported prevalence of hypertension was 3.8%(2 610/69 220). Twin pairs who were older, living in urban areas, married, overweight or obese, current smokers or ex-smokers, and current drinkers or abstainers had a higher self-reported prevalence of hypertension (P<0.05). Analysis within the same-sex twin pairs found that the concordance rate of hypertension was 43.2% in MZ and 27.0% in DZ, and the difference was statistically significant (P<0.001). The heritability of hypertension was 22.1% (95%CI: 16.3%- 28.0%). Stratified by gender, age, and region, the concordance rate of hypertension in MZ was still higher than that in DZ. The heritability of hypertension was higher in female participants. Conclusions: There were differences in the distribution of hypertension among twins with different demographic and regional characteristics. It is indicated that genetic factors play a crucial role in hypertension in different genders, ages, and regions, while the magnitude of genetic effects may vary.
Adult
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Female
;
Humans
;
Male
;
Alcohol Drinking
;
Diseases in Twins/genetics*
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Hypertension/genetics*
;
Twins, Dizygotic/genetics*
;
Twins, Monozygotic/genetics*
6.A descriptive analysis of hyperlipidemia in adult twins in China.
Ke MIAO ; Wei Hua CAO ; Jun LYU ; Can Qing YU ; Sheng Feng WANG ; Tao HUANG ; Dian Jian Yi SUN ; Chun Xiao LIAO ; Yuan Jie PANG ; Zeng Chang PANG ; Min YU ; Hua WANG ; Xian Ping WU ; Zhong DONG ; Fan WU ; Guo Hong JIANG ; Xiao Jie WANG ; Yu LIU ; Jian DENG ; Lin LU ; Wen Jing GAO ; Li Ming LI
Chinese Journal of Epidemiology 2023;44(4):544-551
Objective: To describe the distribution characteristics of hyperlipidemia in adult twins in the Chinese National Twin Registry (CNTR) and explore the effect of genetic and environmental factors on hyperlipidemia. Methods: Twins recruited from the CNTR in 11 project areas across China were included in the study. A total of 69 130 (34 565 pairs) of adult twins with complete information on hyperlipidemia were selected for analysis. The random effect model was used to characterize the population and regional distribution of hyperlipidemia among twins. The concordance rates of hyperlipidemia were calculated in monozygotic twins (MZ) and dizygotic twins (DZ), respectively, to estimate the heritability. Results: The age of all participants was (34.2±12.4) years. This study's prevalence of hyperlipidemia was 1.3% (895/69 130). Twin pairs who were men, older, living in urban areas, married,had junior college degree or above, overweight, obese, insufficient physical activity, current smokers, ex-smokers, current drinkers, and ex-drinkers had a higher prevalence of hyperlipidemia (P<0.05). In within-pair analysis, the concordance rate of hyperlipidemia was 29.1% (118/405) in MZ and 18.1% (57/315) in DZ, and the difference was statistically significant (P<0.05). Stratified by gender, age, and region, the concordance rate of hyperlipidemia in MZ was still higher than that in DZ. Further, in within-same-sex twin pair analyses, the heritability of hyperlipidemia was 13.04% (95%CI: 2.61%-23.47%) in the northern group and 18.59% (95%CI: 4.43%-32.74%) in the female group, respectively. Conclusions: Adult twins were included in this study and were found to have a lower prevalence of hyperlipidemia than in the general population study, with population and regional differences. Genetic factors influence hyperlipidemia, but the genetic effect may vary with gender and area.
Adult
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Female
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Humans
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Male
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Middle Aged
;
Young Adult
;
China/epidemiology*
;
Diseases in Twins/genetics*
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Hyperlipidemias/genetics*
;
Metabolic Diseases
;
Twins, Dizygotic
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Twins, Monozygotic/genetics*
7.Prognosis of traumatic spinal cord injury in children: Follow-up of 86 patients.
Yu-Fei MENG ; Jun-Wei ZHANG ; An-Ni TONG ; He-Hu TANG ; Jin-Zhu BAI ; Fang-Yong WANG ; Shu-Jia LIU ; Zhen LYU ; Shi-Zheng CHEN ; Jie-Sheng LIU ; Yi HONG
Chinese Journal of Traumatology 2023;26(1):14-19
PURPOSE:
The long-term situation of children with spinal cord injury (SCI) was investigated, and suggestions for helping them better return to the society were provided.
METHODS:
SCI patients less than 18 years old hospitalized in Beijing Boai Hospital from January 2011 to December 2020 were retrospectively analyzed. Information including motor function, complications, characteristic changes, self-care abilities, school attendance and social participation were collected by telephone interview and electronic questionnaire. All the answers were statistically analyzed.
RESULTS:
A total of 86 cases were enrolled, 77 girls and 9 boys, with a median injury age of 6 years and 2 months. The follow-up time was 3-130 months. The main cause of trauma in these children was sport injury (66.3%), the thoracic spinal cord was involved the most (91.9%), and complete SCIs accounted for the majority (76.7%). In terms of complications, children with complete SCIs were more likely to have urinary incontinence, constipation and characteristic changes (p < 0.05); whereas the incomplete SCIs often have spasticity (p < 0.05). As to the daily living abilities, children with incomplete lumbar SCIs were more capable to accomplish personal hygiene, transfer, and bathing independently than those with complete injuries, or cervical/thoracic SCIs, respectively (p < 0.05). Moreover, children older than 9 years care more able to dress and transfer independently than the youngers (p < 0.05). Wheelchair users accounted for 84.9% and more than half of them were able to propel wheelchair independently, and those who move passively in wheelchairs were mostly introverted kids (p < 0.05). Almost all (93.8%) children with incomplete injuries were able to walk independently. Most (79.1%) children continued to attending school, and 41.9% participated in interest classes. Unfortunately, 67.4% of the children spent less time playing with their peers than before the injury.
CONCLUSION
SCIs impair physical structures and function of children, affect their independence in daily living, and restrict school attendance and social interaction. Comprehensive rehabilitation after injury is a systematic work. Medical staff and caregivers should not only pay attention to neurological function, but also help them improve self-care abilities. It is also important to balance rehabilitation training and school work and social participation.
Male
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Female
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Humans
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Child
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Adolescent
;
Follow-Up Studies
;
Retrospective Studies
;
Spinal Cord Injuries/complications*
;
Prognosis
8.Genetic screening of adenosine triphosphate-binding cassette transporter A3 gene variants in elderly patients with interstitial lung diseases
Lyu LIU ; Jishi LIU ; Yue SHENG ; Liangliang FAN ; Hong PENG ; Hong LUO
Chinese Journal of Geriatrics 2023;42(8):927-931
Objective:To screen mutations of the adenosine triphosphate(ATP)-binding cassette transporter A3(ABCA3)gene in elderly Chinese individuals with lung interstitial diseases(ILDs)and to analyze the clinical characteristics of ILDs in elderly patients.Methods:A prospective study, After further image analysis of patients diagnosed with interstitial lung diseases between September 2015 and December 2018 at the Department of Respiratory and Critical Care Medicine, the Second Xiangya Hospital of Central South University, 103 patients were willing to provide peripheral blood samples and signed informed consent.DNA samples were extracted and whole exome sequencing was performed to screen ABCA3 gene mutations.Clinical data of patients were summarized and analyzed.Results:Seven rare variants of the ABCA3 gene were identified in 6 patients, with a mean age of 67 years(69-73 years)and an equal sex distribution, and 33.3%(2/6)were smokers.The most notable presentation was diffuse lung lesions.Patients' final diagnoses included idiopathic pulmonary fibrosis(IPF, 3/6), nonspecific interstitial pneumonia(NSIP, 1/6), and IgG4-related lung disease(2/6). Meanwhile, compound heterozygous mutations of the ABCA3 gene responsible for IPF were identified in patient No.39, including p. Asp1465Asn, p.Leu3Vval and p. Val93Ile3, a new finding in patients with ILDs.Conclusions:ABCA3 mutation-related lung interstitial diseases exhibit variable characteristics, with differences in the age of onset, clinical manifestations, imaging features and prognosis between patients.ABCA3 mutations responsible for early-onset ILDs are mostly homozygous or compound heterozygous and usually highly pathogenic nonsense mutations.In contrast, ABCA3 mutations identified in elderly patients with ILDs are often missense mutations, a possible explanation for the variability of ILDs in the elderly.Since patients with ILDs caused by ABCA3 variants respond poorly to currently available treatment options, early genetic diagnosis may benefit patients by enhancing disease awareness.
9.Effect of Baofeikang Granule on Pulmonary Fibrosis in Rats by Regulating Wnt/β-catenin Signaling Pathway
Jia-mei WANG ; Xue-feng GONG ; Ming-sheng LYU ; Dan HOU ; Shuai-yang HUANG ; Shi-yu ZHANG ; Hong-sheng CUI
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(2):47-54
ObjectiveTo explore the intervention effect of Baofeikang granule (BFK) on the rat model of pulmonary fibrosis through the Wnt/β-catenin signaling pathway. MethodAfter adaptive feeding for one week, 50 healthy rats were randomly divided into a blank group (n=8) and an experimental group (n=42). After anesthesia, the rats in the experimental group were injected with bleomycin sulfate solution (5 mg·kg-1) into the trachea for the induction of the pulmonary fibrosis model. Those in the blank group were injected with the same amount of normal saline under the same manipulation. On the 7th day after modeling, one of the remaining 33 rats alive was randomly removed, and the other 32 model rats were assigned into a model group (n=8), a prednisone acetate (1.17 mg·kg-1) group (n=8), a low-dose BFK (13.59 g·kg-1) group (n=8), and a high-dose BFK (27.18 g·kg-1) group (n=8). The rats in the groups with drug intervention were treated correspondingly by gavage once per day for 21 days, and those in the blank group and the model group received the same amount of normal saline. The pulmonary compliance and ventilatory function, the scores of pathological changes and fibrosis, the levels of type Ⅰ collagen (Col Ⅰ) in lung tissues and hydroxyproline (HYP) in the serum, and the relative expression of Wnt3a and β-catenin protein in lung tissues were compared. ResultCompared with the blank group, the model group showed reduced pulmonary function indexes, such as forced vital capacity (FVC), peak expiratory flow (PEF), the resistance of lung (RL), and dynamic compliance (Cdyn) (P<0.05, P<0.01), severely damaged lung tissue morphology, massive formed continuous fibrous foci, increased fibrosis score (P<0.01), elevated levels of Col Ⅰ in lung tissues and HYP in the serum (P<0.01), and up-regulated expression of Wnt3a and β-catenin (P<0.01). FVC, PEF, and Cdyn levels in the prednisone acetate group and the BFK groups were higher than those in the model group (P<0.05, P<0.01). Pathological changes were improved in the groups with drug intervention, and fibrosis scores were decreased as compared with the model group (P<0.05, P<0.01). The scores in the BFK groups were lower than that in the prednisone acetate group (P<0.01). The levels of Col Ⅰ and HYP in the groups with drug intervention were lower than those in the model group (P<0.05, P<0.01). The level of Col Ⅰ in the prednisone acetate group was higher than that in the high-dose BFK group (P<0.01). The levels of serum HYP in the BFK groups was lower than that in the prednisone acetate group (P<0.01). The protein expression of Wnt3a in lung tissues of the high-dose BFK group was lower than that of the model group (P<0.05). The protein expression of β-catenin in the prednisone acetate group and the BFK groups was lower than that in the model group (P<0.05, P<0.01), and the expression level in the high-dose BFK group was lower than that in the prednisone acetate group (P<0.01). ConclusionBFK can relieve bleomycin sulfate-induced pulmonary fibrosis, reduce collagen deposition, improve pulmonary compliance, and enhance pulmonary ventilatory function in rats. One of its mechanisms is presumedly the inhibition of the Wnt/β-catenin signaling pathway.
10.Therapeutic Effect and Antioxidant Mechanism of Xiaochuanning Granule on Psychological Stress Related Asthma in Rats
Dan HOU ; Shuai-yang HUANG ; Ming-sheng LYU ; Xue-feng GONG ; Hong-sheng CUI
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(2):55-61
ObjectiveTo observe the therapeutic effect and antioxidant mechanism of Xiaochuanning granule on psychological stress-related asthma in rats. MethodThe 6-week-old male SD rats were randomly divided into the normal group, asthma group, stress group, stress-related asthma group, western medicine group (atomization of budesonide suspension) and traditional Chinese medicine (TCM) group (Xiaochuanning granule 2.48 g·kg-1). The asthma model was established during 28 days by intraperitoneal injection of 10% ovalbumin(OVA)on the 1st and 8th days and inhaling of vapourized 1% OVA started at the 15th day. Stress group, stress-related asthma group, western medicine group and TCM group were given restraint stimulation during the 28 days to establish the psychological stress-related asthma model. Rats in each group were administered with corresponding drug for 14 days from the 15th day. The sucrose preference test and open field test were performed at the 15th and 28th days. At the end of experiment, the body weight, serum interleukin-4 (IL-4), interleukin-5 (IL-5) and interleukin-13 (IL-13) levels, as well as the levels of malondialdehyde (MDA), superoxide dismutase (SOD) and glutathione (GSH) in lung tissues were detected by assay kits. Hematoxylin-eosin(HE) staining was conducted to observe the pathological changes in lung tissues. Meanwhile, Western blot was used to detect the protein expression of nuclear factor erythroid 2-related factor 2 (Nrf2) and hemeoxygenase-1 (HO-1) in lung tissues. ResultCompared with the stress-related asthma group, the body weight, sugar water consumption rate and open field distance in the TCM group were significantly increased (P<0.05), and the serum IL-4, IL-5, IL-13 levels were significantly decreased (P<0.05), the levels of SOD and GSH in lung tissues increased significantly (P<0.05), while the level of MDA decreased significantly (P<0.05). HE staining showed that the bronchial mucosal injury, inflammatory cell infiltration, gland hyperplasia, epithelial degeneration and necrosis were significantly ameliorated in the TCM group than in the stress-related asthma group. The expression of Nrf2 and HO-1 protein in lung tissues also increased significantly (P<0.05). ConclusionXiaochuanning Granule can regulate the psychological stress state of stress-related asthmatic rats, alleviate airway inflammatory reaction, and suppress oxidation, which is related to its up-regulation of the Nrf2/HO-1 protein expression.

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