1.Value of Reduced Field-of-view DWI in Quantitative Assessment of Axial Spondyloarthritis
Ying-ying ZHAN ; Yun-fei ZHU ; Xiao-jun HE ; Xi-meng LI ; Chao-ran LIU ; Ke ZHANG ; Wen-juan LI ; Guo-bin HONG
Journal of Sun Yat-sen University(Medical Sciences) 2023;44(2):326-334
ObjectiveTo investigate the value of reduced field-of-view DWI (r-FOV DWI) in quantitative assessment of axial spondyloarthritis. MethodsA total of 112 patients with chronic back pain or suspected axial spondyloarthritis receiving full field-of-view DWI (f-FOV DWI) and reduced field-of-view DWI (r-FOV DWI) from December 2019 to December 2021 were enrolled. Next, subjective image quality assessment (anatomical detail, artifacts, distortion, overall image quality) and objective image quality assessment including (signal to noise ratio and contrast to noise ratio) were conducted by two experienced radiologists. In addition, the Apparent Diffusion Coefficient (ADC) values of three groups (active group, inactive group, and control group) on the two DWI sequences were measured by the two radiologists, respectively. Finally, the consistency of measurement between the two researchers was evaluated and the differences in ADC values was compared. Results102 patients were included and were divided into three groups, including the active group (n=32), inactive group (n=29), and control group (n=41) according to ASAS diagnostic criteria. All subjective and objective image quality metrics were rated in favor of r-FOV DWI images compared with f-FOV DWI images [overall image quality: DWI 4(3
2.Meranzin Hydrate Improves Depression-Like Behaviors and Hypomotility via Ghrelin and Neurocircuitry.
Ya-Lin LIU ; Jian-Jun XU ; Lin-Ran HAN ; Xiang-Fei LIU ; Mu-Hai LIN ; Yun WANG ; Zhe XIAO ; Yun-Ke HUANG ; Ping REN ; Xi HUANG
Chinese journal of integrative medicine 2023;29(6):490-499
OBJECTIVE:
To investigate whether meranzin hydrate (MH) can alleviate depression-like behavior and hypomotility similar to Chaihu Shugan Powder (CSP), and further explore the potential common mechanisms.
METHODS:
Totally 120 Spraque-Dawley rats were randomly divided into 5-8 groups including sham, vehicle, fluoxetine (20 mg/kg), mosapride (10 mg/kg), CSP (30 g/kg), MH (9.18 mg/kg), [D-Lys3]-GHRP-6 (Dlys, 0.5 mg/kg), and MH+Dlys groups by a random number table, 8 rats in each group. And 32 mice were randomly divided into wild-type, MH (18 mg/kg), growth hormone secretagogue receptor-knockout (GHSR-KO), and GHSR+MH groups, 8 mice in each group. The forced swimming test (FST), open field test (OFT), tail suspension test (TST), gastric emptying (GE) test, and intestinal transit (IT) test were used to assess antidepressant and prokinetic (AP) effects after drug single administration for 30 min with absorbable identification in rats and mice, respectively. The protein expression levels of brain-derived neurotrophic factor (BDNF) and phosphorylated mammalian target of rapamycin (p-mTOR) in the hippocampus of rats were evaluated by Western blot. The differences in functional brain changes were determined via 7.0 T functional magnetic resonance imaging-blood oxygen level-dependent (fMRI-BOLD).
RESULTS:
MH treatment improved depression-like behavior (FST, OFT) and hypomotility (GE, IT) in the acute forced swimming (FS) rats (all P<0.05), and the effects are similar to the parent formula CSP. The ghrelin antagonist [D-Lys3]-GHRP-6 inhibited the effect of MH on FST and GE (P<0.05). Similarly, MH treatment also alleviated depression-like behavior (FST, TST) in the wild-type mice, however, no effects were found in the GHSR KO mice. Additionally, administration of MH significantly stimulated BDNF and p-mTOR protein expressions in the hippocampus (both P<0.01), which were also prevented by [D-Lys3]-GHRP-6 (P<0.01). Besides, 3 main BOLD foci following acute FS rats implicated activity in hippocampus-thalamus-basal ganglia (HTB) circuits. The [D-Lys3]-GHRP-6 synchronously inhibited BOLD HTB foci. As expected, prokinetic mosapride only had effects on the thalamus and basal ganglia, but not on the hippocampus. Within the HTB, the hippocampus is implicated in depression and FD.
CONCLUSIONS
MH accounts for part of AP effects of parent formula CSP in acute FS rats, mainly via ghrelin-related shared regulation coupled to BOLD signals in brain areas. This novel functionally connection of HTB following acute stress, treatment, and regulation highlights anti-depression unified theory.
Rats
;
Mice
;
Animals
;
Brain-Derived Neurotrophic Factor/metabolism*
;
Ghrelin/metabolism*
;
Antidepressive Agents/therapeutic use*
;
Hippocampus
;
Stress, Psychological
;
Mammals/metabolism*
3.Yinlai Decoction Protects Microstructure of Colon and Regulates Serum Level of D-Lactic Acid in Pneumonia Mice Fed with High-Calorie and High-Protein Diet.
Yun-Hui WANG ; He YU ; Tie-Gang LIU ; Teck Chuan KONG ; Zi-An ZHENG ; Yu-Xiang WAN ; Chen BAI ; Yu HAO ; Ying-Qiu MAO ; Jun WU ; Jing-Nan XU ; Li-Jun CUI ; Yu-Han WANG ; Yan-Ran SHAN ; Ying-Jun SHAO ; Xiao-Hong GU
Chinese journal of integrative medicine 2023;29(8):714-720
OBJECTIVE:
To investigate the effect of Yinlai Decoction (YD) on the microstructure of colon, and activity of D-lactic acid (DLA) and diamine oxidase (DAO) in serum of pneumonia mice model fed with high-calorie and high-protein diet (HCD).
METHODS:
Sixty male Kunming mice were randomly divided into 6 groups by the random number table method: normal control, pneumonia, HCD, HCD with pneumonia (HCD-P), YD (229.2 mg/mL), and dexamethasone (15.63 mg/mL) groups, with 10 in each group. HCD mice were fed with 52% milk solution by gavage. Pneumonia mice was modeled with lipopolysaccharide inhalation and was fed by gavage with either the corresponding therapeutic drugs or saline water, twice daily, for 3 days. After hematoxylin-eosin staining, the changes in the colon structure were observed under light microscopy and transmission electron microscope, respectively. Enzyme-linked immunosorbent assay was used to detect the protein levels of DLA and DAO in the serum of mice.
RESULTS:
The colonic mucosal structure and ultrastructure of mice in the normal control group were clear and intact. The colonic mucosal goblet cells in the pneumonia group tended to increase, and the size of the microvilli varied. In the HCD-P group, the mucosal goblet cells showed a marked increase in size with increased secretory activity. Loose mucosal epithelial connections were also observed, as shown by widened intercellular gaps with short sparse microvilli. These pathological changes of intestinal mucosa were significantly reduced in mouse models with YD treatment, while there was no significant improvement after dexamethasone treatment. The serum DLA level was significantly higher in the pneumonia, HCD, and HCD-P groups as compared with the normal control group (P<0.05). Serum DLA was significantly lower in the YD group than HCD-P group (P<0.05). Moreover, serum DLA level significantly increased in the dexamethasone group as compared with the YD group (P<0.01). There was no statistical significance in the serum level of DAO among groups (P>0.05).
CONCLUSIONS
YD can protect function of intestinal mucosa by improving the tissue morphology of intestinal mucosa and maintaining integrity of cell connections and microvilli structure, thereby reducing permeability of intestinal mucosa to regulate the serum levels of DLA in mice.
Mice
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Male
;
Animals
;
Lactic Acid/pharmacology*
;
Intestinal Mucosa
;
Colon/pathology*
;
Dexamethasone/pharmacology*
;
Diet, High-Protein
;
Pneumonia/pathology*
4.Predictive value of the proportion of hibernating myocardium in total perfusion defect on reverse remodeling in patients with HFrEF underwent coronary artery bypass graft.
Yao LU ; Jian CAO ; En Jun ZHU ; Ming Xin GAO ; Tian Tian MOU ; Ying ZHANG ; Xiao Fen XIE ; Yi TIAN ; Ming Kai YUN ; Jing Jing MENG ; Xiu Bin YANG ; Yong Qiang LAI ; Ran DONG ; Xiao Li ZHANG
Chinese Journal of Cardiology 2023;51(4):384-392
Objective: To evaluate the predictive value of the proportion of hibernating myocardium (HM) in total perfusion defect (TPD) on reverse left ventricle remodeling (RR) after coronary artery bypass graft (CABG) in patients with heart failure with reduced ejection fraction (HFrEF) by 99mTc-methoxyisobutylisonitrile (MIBI) single photon emission computed tomography (SPECT) myocardial perfusion imaging (MPI) combined with 18F-flurodeoxyglucose (FDG) gated myocardial imaging positron emission computed tomography (PET). Methods: Inpatients diagnosed with HFrEF at the Cardiac Surgery Center, Anzhen Hospital of Capital Medical University from January 2016 to January 2022 were prospectively recruited. MPI combined with 18F-FDG gated PET was performed before surgery for viability assessment and the patients received follow-up MPI and 18F-FDG gated PET at different stages (3-12 months) after surgery. Δ indicated changes (post-pre). Left ventricular end-systolic volume (ESV) reduced at least 10% was defined as RR, patients were divided into reverse remodeling (RR+) group and the non-reverse group (RR-). Binary logistic regression analysis was used to identify predictors of RR. Receiver operating characteristic (ROC) curve analysis was performed and the area under the curve (AUC) was calculated to assess the cut-off value for predicting RR. Additionally, we retrospectively enrolled inpatients with HFrEF at the Cardiac Surgery Center, Anzhen Hospital of Capital Medical University from January 2021 to January 2022 as the validation group, who underwent MPI and 18F-FDG gated PET before surgery. Echocardiography was performed before CABG and after CABG (3-12 months). In the validation group, the reliability of obtaining the cut-off value for the ROC curve was verified. Results: A total of 28 patients with HFrEF (26 males; age (56.9±8.7) years) were included in the prospective cohort. HM/TPD was significantly higher in the RR+ group than in the RR- group ((51.8%±17.9%) vs. (35.7%±13.9%), P=0.016). Binary logistic regression analysis revealed that HM/TPD was an independent predictor of RR (Odds ratio=1.073, 95% Confidence interval: 1.005-1.145, P=0.035). ROC curve analysis revealed that HM/TPD=38.3% yielded the highest sensitivity, specificity, and accuracy (all 75%) for predicting RR and the AUC was 0.786 (P=0.011). Meanwhile, a total of 100 patients with HFrEF (90 males; age (59.7±9.6) years) were included in the validation group. In the validation group, HM/TPD=38.3% predicted RR in HFrEF patients after CABG with the highest sensitivity, specificity and accuracy (82%, 60% and 73% respectively). Compared with the HFrEF patients in the HM/TPD<38.3% group (n=36), RR and cardiac function improved more significantly in the HM/TPD≥38.3% group (n=64) (all P<0.05). Conclusions: Preoperative HM/TPD ratio is an independent factor for predicting RR in patients with HFrEF after CABG, and HM/TPD≥38.3% can accurately predict RR and the improvement of cardiac function after CABG.
Male
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Humans
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Middle Aged
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Aged
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Stroke Volume
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Heart Failure
;
Fluorodeoxyglucose F18
;
Retrospective Studies
;
Reproducibility of Results
;
Prospective Studies
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Coronary Artery Bypass
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Ventricular Dysfunction, Left
;
Tomography, Emission-Computed, Single-Photon
;
Perfusion
;
Myocardium
5.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
;
Child
;
China/epidemiology*
;
Cryptorchidism/genetics*
;
Disorders of Sex Development/genetics*
;
Female
;
Genital Diseases, Male
;
Genotype
;
Humans
;
Hypospadias/genetics*
;
Male
;
Membrane Proteins/genetics*
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Penis/abnormalities*
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Phenotype
;
Retrospective Studies
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Steroid 21-Hydroxylase/genetics*
6.Evaluation of Dominant Diseases of Traditional Chinese Medicine: A Case Study of Ischemic Stroke
Wen-ran QIU ; Zhen-min XU ; Wei SHEN ; Guo-jing FU ; Liu-ding WANG ; Shao-jiao LIU ; Hong-xi LIU ; Yue LIU ; Ye-fei WANG ; Ling-ling DAI ; Chun-yan GUO ; Wei-wei JIAO ; Xing LIAO ; Yu LIU ; Xiao LIANG ; Yun-ling ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(12):225-232
The present study explored the effective approaches to realize the leading role of traditional Chinese medicine (TCM) in preventing diseases, the synergistic role in treating serious diseases, the core role in the rehabilitation of diseases and summarized the experience to provide feasible plans for the evaluation of other dominant diseases of TCM. To evaluate the effectiveness, safety, and economy of TCM in the treatment of ischemic stroke, encephalopathy project team of the China Center for Evidence-based Traditional Chinese Medicine(CCEBTCM) established an evaluation group to determine the work plan and complete the evaluation work. The concepts of the evaluation involved high-quality evidence, expert opinion survey, expert interview, and drug catalog. Under the guidance of clinical experts and methodologists, the evaluation work was completed in accordance with four steps, i.e., plan making, data collection and data extraction, evidence synthesis and evaluation, and report writing with the rapid review method. Through the review of TCM and western medicine experts, the advantage of TCM in the treatment of ischemic stroke was positioned in the convalescence period with the predominant effects of improving the neurological function defect and improving the daily living ability. In the convalescence period of stroke, TCM treatment could improve post-stroke motor dysfunction, post-stroke cognitive impairment, consciousness disorder, swallowing disorder, aphasia, constipation, urinary function, diplopia, etc., and the advantages of acupuncture, Chinese medicine, and traditional exercise were more prominent. In terms of safety, TCM treatment of ischemic stroke showed lower incidence of adverse reactions, fewer adverse events, and a milder degree of related symptoms. In terms of economic performance, the combined treatment of TCM and western medicine played a synergistic role and made the treatment cost more reasonable. Compared with conventional intervention, the integrated TCM and western medicine rehabilitation program showed more economic and social benefits.
7.Course of disease and related epidemiological parameters of COVID-19: a prospective study based on contact tracing cohort.
Yan ZHOU ; Wen Jia LIANG ; Zi Hui CHEN ; Tao LIU ; Tie SONG ; Shao Wei CHEN ; Ping WANG ; Jia Ling LI ; Yun Hua LAN ; Ming Ji CHENG ; Jin Xu HUANG ; Ji Wei NIU ; Jian Peng XIAO ; Jian Xiong HU ; Li Feng LIN ; Qiong HUANG ; Ai Ping DENG ; Xiao Hua TAN ; Min KANG ; Gui Min CHEN ; Mo Ran DONG ; Hao Jie ZHONG ; Wen Jun MA
Chinese Journal of Preventive Medicine 2022;56(4):474-478
Objective: To analyze the course of disease and epidemiological parameters of COVID-19 and provide evidence for making prevention and control strategies. Methods: To display the distribution of course of disease of the infectors who had close contacts with COVID-19 cases from January 1 to March 15, 2020 in Guangdong Provincial, the models of Lognormal, Weibull and gamma distribution were applied. A descriptive analysis was conducted on the basic characteristics and epidemiological parameters of course of disease. Results: In total, 515 of 11 580 close contacts were infected, with an attack rate about 4.4%, including 449 confirmed cases and 66 asymptomatic cases. Lognormal distribution was fitting best for latent period, incubation period, pre-symptomatic infection period of confirmed cases and infection period of asymptomatic cases; Gamma distribution was fitting best for infectious period and clinical symptom period of confirmed cases; Weibull distribution was fitting best for latent period of asymptomatic cases. The latent period, incubation period, pre-symptomatic infection period, infectious period and clinical symptoms period of confirmed cases were 4.50 (95%CI:3.86-5.13) days, 5.12 (95%CI:4.63-5.62) days, 0.87 (95%CI:0.67-1.07) days, 11.89 (95%CI:9.81-13.98) days and 22.00 (95%CI:21.24-22.77) days, respectively. The latent period and infectious period of asymptomatic cases were 8.88 (95%CI:6.89-10.86) days and 6.18 (95%CI:1.89-10.47) days, respectively. Conclusion: The estimated course of COVID-19 and related epidemiological parameters are similar to the existing data.
COVID-19
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Cohort Studies
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Contact Tracing
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Humans
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Incidence
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Prospective Studies
8.Epidemic status of imported malaria before and after malaria elimination in Jiaozuo City of Henan Province
Wei-xia RAN ; Tang-yun LI ; Zhong-cao ZHANG ; Qian MA ; Xiao-li XU
Chinese Journal of Schistosomiasis Control 2022;34(2):191-193
Objective To analyze and compare the epidemiological characteristics of imported malaria in Jiaozuo City before and after malaria elimination, so as to provide insights into the malaria surveillance during the post-elimination stage and prevention of re-establishment of imported malaria. Methods Data pertaining to the epidemic situation and individual investigation of malaria in Jiaozuo City before (from 2010 to 2016) and after malaria elimination (from 2017 to November, 2020) were captured from the National Notifiable Disease Reporting System and the Information System for Parasitic Diseases Control and Prevention of Chinese Center for Disease Control and Prevention and were analyzed statistically. Results A total of 74 imported malaria cases were reported in Jiaozuo City from 2010 to 2021. Imported cases were predominantly Plasmodium falciparum malaria cases in Jiaozuo City before and after malaria elimination, and there was no significant difference in the proportion of malaria parasite species (χ2 = 0.234, P > 0.05). The imported malaria cases was predominantly reported in Wuzhi County, and was identified in overseas male farmers and businessmen at ages of 20 to 59 years, while the greatest number of imported malaria cases was reported in June and December before and after malaria elimination. The imported malaria cases predominantly acquired malaria parasite infections in sub-Saharan African countries; however, the proportion of imported malaria cases returning from Southeast Asian counties increased after malaria elimination than before malaria elimination (χ2 = 5.989, P < 0.05). The longest duration from onset to definitive diagnosis of malaria reduced from 27 days before malaria elimination to 18 days after malaria elimination, and the median duration reduced from 3 days to 2 days, while the proportion of definitive diagnosis of malaria increased from 60.47% before malaria elimination to 83.87% after malaria elimination (χ2 = 4.724, P < 0.05). In addition, the proportion of malaria cases definitively diagnosed and reported by medical institutions increased after malaria elimination than before malaria elimination (χ2 = 5.406, P < 0.05). Conclusions The imported malaria patients were predominantly P. falciparum malaria cases in Jiaozuo City during 2010 to 2021, and the patient’s medical care-seeking awareness and medical staff’s diagnosis and treatment ability have improved after malaria elimination. It is necessary to strengthen and improve malaria surveillance and response system and prevent the re-establishment of overseas imported malaria.
9.Effect of Maximal Oxygen Pulse on Patients with Chronic Obstructive Pulmonary Disease.
Yun Xiao LI ; Jun WANG ; Bo WU ; Fang LIN ; Chun Ting TAN ; Gang Gang YU ; Shan NIE ; Ran Ran ZHAO ; Bo XU
Biomedical and Environmental Sciences 2022;35(9):830-841
OBJECTIVE:
This study evaluated the effect of maximal oxygen pulse (O 2P max) on patients with chronic obstructive pulmonary disease (COPD) and confirmed the predictive effect on acute exacerbations of COPD (AECOPD).
METHODS:
This retrospective study included 91 participants who underwent cardiopulmonary exercise testing (CPET), lung function testing, a dyspnea scale assessment, and a 3-year follow-up. The participants were divided into two groups according to the O 2P max value. Exercise capacity, ventilatory conditions, gas exchange efficiency, and dyspnea symptoms were compared, and the correlations between O 2P max and these indices were evaluated. The ability of O 2P max to predict AECOPD was examined.
RESULTS:
Exercise capacity, ventilatory conditions, and gas exchange efficiency were lower, and dyspnea symptom scores were higher in the impaired O 2P max group ( P < 0.05). O 2P max was positively correlated with forced vital capacity (FVC)%, forced expiratory volume in 1 sec (FEV 1)%, FEV 1/FVC%, anaerobic threshold (AT), work rate (WR)%, aximal oxygen uptake (V̇O 2max)%, V̇O 2/kg max, V̇O 2/kg max%, WR AT, WR max, V̇O 2AT, V̇O 2max, and V̇ Emax, and was negatively correlated with EqCO 2AT, and EqCO 2max ( P < 0.05). Most importantly, O 2P max could be used to predict AECOPD, and the best cut-off value was 89.5% (area under the curve, 0.739; 95% CI, 0.609-0.869).
CONCLUSION
O 2P max reflected exercise capacity, ventilation capacity, gas exchange capacity, and dyspnea symptoms in patients with COPD and may be an independent predictor of AECOPD.
Dyspnea/etiology*
;
Exercise Tolerance
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Humans
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Oxygen
;
Oxygen Consumption
;
Pulmonary Disease, Chronic Obstructive
;
Retrospective Studies
10.DEFB126 polymorphisms and association with idiopathic asthenozoospermia in China.
Jiao-Yu HE ; Jian-Ying PENG ; Qiu-Fu LI ; Xiao-Li LIN ; Yan-Ru CUI ; Shi-Yu MA ; Shi-Yun FAN ; Yi-Ran LIU ; Zhi-Lin SONG ; Jun-Hang DENG ; Xia WEI ; Xian-Ping DING
Asian Journal of Andrology 2022;24(6):607-614
Idiopathic asthenozoospermia, a common factor in male infertility, is characterized by altered sperm motility function in fresh ejaculate. Although the β-defensin 126 (DEFB126) protein is associated with asthenozoospermia, DEFB126 gene polymorphisms have not been extensively studied. Therefore, the association between DEFB126 gene polymorphisms and asthenozoospermia requires further investigation. Screening was performed by semen analysis, karyotype analysis, and Y microdeletion detection, and 102 fertile men and 106 men with asthenozoospermia in Chengdu, China, were selected for DEFB126 gene sequence analyses. Seven nucleotide mutations and two nucleotide deletions in the DEFB126 gene were detected. rs11467417 (317-318 del/del), rs11467497 (163-166 wt/del), c.152T>C, and c.227A>G were significantly different between the control and asthenozoospermia groups, likely representing high-risk genetic factors for asthenozoospermia among males. DEFB126 expression was not observed in sperm with rs11467497 homozygous deletion and was unstable in sperm with rs11467417 homozygous deletion. The rs11467497 four-nucleotide deletion leads to truncation of DEFB126 at the carboxy-terminus, and the rs11467417 binucleotide deletion produces a non-stop messenger RNA (mRNA). The above deletions may be responsible for male hypofertility and infertility by reducing DEFB126 affinity to sperm surfaces. Based on in silico analysis, the amino acids 51M and 76K are located in the highly conserved domain; c.152T>C (M51T) and c.227A>G (K76R) are predicted to be damaging and capable of changing alternative splice, structural and posttranslational modification sites of the RNA, as well as the secondary structure, structural stability, and hydrophobicity of the protein, suggesting that these mutations are associated with asthenozoospermia.
Male
;
Humans
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Asthenozoospermia/metabolism*
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Sperm Motility/genetics*
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Homozygote
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Polymorphism, Single Nucleotide
;
Semen
;
Sequence Deletion/genetics*
;
Spermatozoa/metabolism*
;
Nucleotides/metabolism*
;
beta-Defensins/metabolism*

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