1.Analysis of non-targeted variants by invasive prenatal diagnosis for pregnant women undergoing preimplantation genetic testing
Si LI ; Ziyi XIAO ; Chenyu GOU ; Xiaolan LI ; Yijuan HUANG ; Yuanqiu CHEN ; Shujing HE ; Zhiqiang ZHANG ; Zi REN ; Song GUO ; Weiying JIANG ; Yu GAO
Chinese Journal of Medical Genetics 2024;41(11):1283-1289
Objective:To compare the results of invasive prenatal diagnosis and preimplantation genetic testing (PGT) and explore the underlying mechanism.Methods:Clinical data of pregnant women undergoing PGT and invasive prenatal diagnosis at the Sixth Affiliated Hospital of Sun Yat-sen University from January 2019 to December 2022 were collected. The results of PGT and invasive prenatal diagnosis were compared, and the outcomes of pregnancies were followed up. This study has been approved by the Medical Ethics Committee of the the Sixth Affiliated Hospital of Sun Yat-sen University (No. 2022SLYEC-491).Results:A total of 172 couples were included in this study, and 26 non-targeted variants were discovered upon prenatal diagnosis, including 10 cases (38.5%) by chromosomal karyotyping, 15 (57.7%) by chromosomal microarray analysis (CMA), and 1 (3.8%) by whole exome sequencing. The 10 karyotypic anomalies had included 6 chromosomal polymorphisms, 2 chromosomal mosaicisms, 1 paternally derived translocation, and 1 missed maternal chromosomal inversion. CMA has identified 15 copy number variations (CNVs), which included 11 microdeletions and microduplications, 3 loss of heterozygosity, and 1 low-level mosaicism of paternal uniparental disomy. One CNV was classified as pathogenic, and another one was likely pathogenic, whilst the remaining 13 were classified as variants of uncertain significance. Therefore, 8.7% of CNVs was detected by invasive prenatal diagnosis after PGT. 92.3% (24/26) of the non-targeted variants have been due to technological limitations of next-generation sequencing (NGS).Conclusion:Invasive prenatal diagnosis after PGT can detect non-targeted variants, which may further reduce the incidence of birth defects.
2.Correlation between Combined Urinary Metal Exposure and Grip Strength under Three Statistical Models: A Cross-sectional Study in Rural Guangxi
Jian Yu LIANG ; Hui Jia RONG ; Xiu Xue WANG ; Sheng Jian CAI ; Dong Li QIN ; Mei Qiu LIU ; Xu TANG ; Ting Xiao MO ; Fei Yan WEI ; Xia Yin LIN ; Xiang Shen HUANG ; Yu Ting LUO ; Yu Ruo GOU ; Jing Jie CAO ; Wu Chu HUANG ; Fu Yu LU ; Jian QIN ; Yong Zhi ZHANG
Biomedical and Environmental Sciences 2024;37(1):3-18
Objective This study aimed to investigate the potential relationship between urinary metals copper (Cu), arsenic (As), strontium (Sr), barium (Ba), iron (Fe), lead (Pb) and manganese (Mn) and grip strength. Methods We used linear regression models, quantile g-computation and Bayesian kernel machine regression (BKMR) to assess the relationship between metals and grip strength.Results In the multimetal linear regression, Cu (β=-2.119), As (β=-1.318), Sr (β=-2.480), Ba (β=0.781), Fe (β= 1.130) and Mn (β=-0.404) were significantly correlated with grip strength (P < 0.05). The results of the quantile g-computation showed that the risk of occurrence of grip strength reduction was -1.007 (95% confidence interval:-1.362, -0.652; P < 0.001) when each quartile of the mixture of the seven metals was increased. Bayesian kernel function regression model analysis showed that mixtures of the seven metals had a negative overall effect on grip strength, with Cu, As and Sr being negatively associated with grip strength levels. In the total population, potential interactions were observed between As and Mn and between Cu and Mn (Pinteractions of 0.003 and 0.018, respectively).Conclusion In summary, this study suggests that combined exposure to metal mixtures is negatively associated with grip strength. Cu, Sr and As were negatively correlated with grip strength levels, and there were potential interactions between As and Mn and between Cu and Mn.
3.Analysis of nutritional status of nasopharyngeal carcinoma patients and its impact on quality of life
Kai ZHOU ; Xiao-Xia GOU ; Hu MA ; Guo-Ping HE ; Xin TIAN ; Hui XU ; Bi FENG
Parenteral & Enteral Nutrition 2024;31(5):280-287
Objective:To investigate the correlation between nutritional status and quality of life in inpatients with nasopharyngeal carcinoma and to analyze the factors affecting nutritional status,so as to provide evidence for clinical nutritional support treatment.Methods:In this study,we retrospectively collected data from patients with nasopharyngeal carcinoma who met the inclusion and exclusion criteria in the Head and Neck Oncology Department of Zunyi Medical University Affiliated Hospital from 2014 to 2019.The NRS 2002 scale was used for nutritional risk screening,the PG-SGA scale for nutritional status assessment and the EORTCQLQ-C30 V3.0 scale for quality of life assessment.To further explore the correlation between nutritional status and quality of life,as well as the factors affecting nutritional status.Results:A total of 216 patients were collected,including 168 male(77.78%);average age(50.5±10.58)years;26.85%were at nutritional risk(NRS 2002 score≥3);28.70%were moderate malnutrition(PG-SGA score 4-8),and 23.15%were severe malnutrition(PG-SGA score≥9).There were significant differences in several physical examinations(such as body weight,body mass index,muscle circumference at the midpoint of the upper arm,etc.)and blood biochemical indexes(such as prealbumin,neutrophils,urea nitrogen,etc.)of patients with different nutritional status were differed between groups(P<0.05).Univariate analysis showed that age≥65 years was a risk factor for the development of severe malnutrition(OR:3.429,95%CI:1.467 to 8.014,P=0.004),whereas a high level of education(senior high school and above)was a protective factor(OR:0.027,95%CI:0.011 to 0.064,P=0.000).The poorer the nutritional status of nasopharyngeal carcinoma patients,the lower the quality of life.Conclusion:Nasopharyngeal carcinoma patients have a high incidence of malnutrition;the poorer the nutritional status of the patient,the lower the quality of life;routine nutritional diagnosis and treatment of nasopharyngeal carcinoma patients after admission to the hospital is recommended to improve clinical outcomes.
4.Advances in the study of linezolid-related adverse reactions of blood and metabolic system
Jun-Qiang GOU ; Qian LI ; Dong-Feng YIN ; Xiao-Feng WANG
Medical Journal of Chinese People's Liberation Army 2024;49(8):965-972
Linezolid,a fully synthetic oxazolidinone antibiotic,is mainly used to treat severe infections caused by Gram-positive drug-resistant bacteria.In recent years,with the rise in drug-resistant bacteria,the clinical utilization rate of linezolid and the incidence of linezolid-related adverse reactions in the hematological system and metabolic system have increased.The main adverse reactions include thrombocytopenia,anemia and lactic acidosis.Studies have shown that the causes of adverse reactions in linezolid-induced hematological system and metabolic system are diverse,and the mechanisms are not fully elucidated.In this review,the pharmacokinetic characteristics,mechanism of adverse reactions,risk factors,as well as preventive measures and individualized drug administration strategies of linezolid in vivo were discussed based on literature reports at home and abroad,aiming to provide references for clinical prevention and treatment of linezolid-related adverse reactions of hematological system and metabolic system.
5.Observation of the efficacy of Vonoprazan dual therapy in the eradication of Helicobacter pylori
Shi-Ling WANG ; Dan-Ni CHEN ; Zhao LIU ; Zhao-Li MA ; Qiang LI ; Hong LU ; Min LIU ; Xi GOU ; Jun WANG ; Xiao-Chuang SHU ; Qian REN
Modern Interventional Diagnosis and Treatment in Gastroenterology 2024;29(3):265-269
Objective This paper intends to compare the efficacy and safety of high-dose dual regimens containing Vonoprazan and proton pump inhibitor in patients infected with Helicobacter pylori(H.pylori).Methods A prospective randomized controlled study was conducted.According to inclusion and exclusion criteria.,243 patients with H.pylori infection admitted to the Department of Gastroenterology,the First Hospital of Lanzhou University from February 2023 to December 2023 were enrolled as the research objects.They were randomly divided into two groups.The high-dose dual therapy containing Vonoprazan group(VPZ-HDDT group)was given Vonoprazan fumarate tablet 20mg twice daily plus amoxicillin 750 mg four times daily for 14 days and the high-dose combination group containing PPI(PPI-HDDT group)was given esomeprazole 40 mg twice daily plus amoxicillin 750 mg four times daily for 14 days.Patients were followed up and recorded by telephone or WeChat on the 7th and 14th day of starting treatment for drug intake and occurrence of adverse reactions.Patients were instructed to recheck the 13C or 14C urea breath test at least 1 month after the end of medication.Treatment by protocol(PP)analysis,modified intention to treat(mITT)and intention-to-treat(ITT)analysis were used for H.pylori eradication rates in both groups,and compliance and incidence of adverse reactions were compared between the two groups.Results The eradication rates of the VPZ-HDDT group and the PPI-HDDT group in the initial treatment were 94.0%and 88.5%(P=0.209)by PP analysis,and 91.8%and 87.5%(P=0.358)86.7%by mITT analysis,and 81.9%(P=0.377)by ITT analysis,respectively.In the retreated patients,the PP analysis and mITT analysis eradication rates in these two groups were consistent,87.0%and 84.2%(P=0.800),respectively,and 83.3%and 76.2%(P=0.550)by ITT analysis.For the refractory H.pylori patients,the PP analysis and mITT analysis eradication rates in these two groups were also consistent,71.4%and 50.0%(P=0.429),and the eradication rates of ITT analysis were 62.5%and 50.0%(P=0.640),respectively.In different stratifications,the eradication rates of the VPZ-HDDT group were higher than those of the PPI-HDDT group,but the differences were not statistically significant.The incidence of adverse reactions and compliance of the VPZ-HDDT group and the PPI-HDDT group were similar,with no statistically significant differences.Conclusion Both two combination regimens can achieve clinically acceptable eradication rates(>85%)in the first-time treatment patients.For the retreated and refractory patients,the choice of vonoprazan is more beneficial.
6.Environmental RNA applications in ecological risk assessment of chemicals
Xiao GOU ; Xinxin SU ; Qiong WANG ; Xianglin LIU ; Huimin JI ; Xiaowei ZHANG
Chinese Journal of Pharmacology and Toxicology 2024;38(10):759-765
Chemical pollution-induced damage to ecosystem function has been a global challenge.The latest"Kunming-Montreal Global Biodiversity Framework"proposed reducing pollution risks to levels harmless to biodiversity and function,placing higher demands on chemical risk management at the ecosystem level.Conventional ecotoxicity tests have focused on single species,only to neglect genetic diversity protection and simplify species interactions.Here,we proposed using environmental RNA(eRNA)and metatranscriptomic analysis to establish a multi-species,multi-biological level chemical pollution ecological risk assessment approach in exposed communities.We reviewed the current status and trends of eRNA in chemical pollution risk assessment and proposed a strategy for bioeffect testing from molecules to communities based on eRNA,constructing ecological risk assessment models for different protection goals.Finally,we summarized the theoretical and technical challenges facing eRNA-based toxicity testing and outlined the future applications of eRNA in capturing real ecological effects of chemical pollution in the field.
7.Comparative analysis of transcatheter arterial embolization and Viabahn covered stent placement in the treatment of delayed hemorrhage after hepatobiliary and pancreatic surgery
Yunsong MA ; Yabo GOU ; Chao WANG ; Bin SHEN ; Qianxin HUANG ; Jinchang XIAO ; Hao XU ; Maoheng ZU ; Qingqiao ZHANG
Chinese Journal of Hepatobiliary Surgery 2024;30(9):652-656
Objective:To compare the efficacy and safety of transcatheter arterial embolization (TAE) and Viabahn covered stent placement (CSP) for the treatment of delayed hemorrhage after hepatobiliary and pancreatic surgery (DH-HPS).Methods:The clinical data of 41 patients with DH-HPS at the Affiliated Hospital of Xuzhou Medical University from January 2019 to June 2023 were retrospectively analyzed. Among these patients, 27 were male and 14 were female, with an average age of (63.1±10.3) years. 22 patients who underwent TAE was in TAE group and 19 who underwent Viabahn CSP was in CSP group. The interventional treatment effect, blood biochemical indexes and complications were compared between the two groups.Results:In the TAE group, the success rate of hemostasis was 90.9% (20/22), and the rebleeding rate was 9.1% (2/22) after interventional treatment. In the CSP group, the success rate of hemostasis was 94.7% (18/19), and the rebleeding rate of was 5.3% (1/19) after interventional treatment. There was no statistically significant difference in the success rate of hemostasis and the rebleeding rate between the two groups (both P>0.05). The rate of liver function exacerbation after the procedure was 100% (20/20) in the TAE group and 58.8% (10/17) in the CSP group, with a statistically significant difference between the two groups ( χ2=9.77, P=0.002). 37 patients were followed up (18.4±1.7) months, and no rebleeding occurred in all patients. Conclusion:TAE and CSP are both effective for DH-HPS, while CSP is superior to TAE in terms of liver function protection.
8.Research progress of retinal microscopic changes after extraocular muscle surgery
Chen XIE ; Bo LI ; Wen-Jun GOU ; Xiao-Hui ZHANG ; Heng LI
International Eye Science 2023;23(2):240-243
As a primary treatment for strabismus, extraocular muscle surgery can achieve the purpose of correcting the eye position, improving the appearance and reconstructing the third-level visual function. Previous studies have found that the vascular density(VD)and thickness of retina increased in the early stage after extraocular muscle surgery, where multiple mechanisms involved. In recent years, with the appearance of detection means such as optical coherence tomography angiography(OCTA), our quantitative understanding of retinal microscopic changes and their mechanisms brought about by traditional extraocular muscle surgery has become more and more profound. The increase of retinal VD in the early postoperative period may be closely related to the recovery of postoperative visual function. However, the related studies are few, and the association between microscopic changes and visual function after extraocular muscle surgery and its mechanism need to be further clarified. This article will review the microscopic changes of retina and their mechanisms after extraocular muscle surgery from multiple perspectives to improve our understanding of the relationship between the mechanism of its influence and visual function, with a view to provide references for the choice of extraocular muscle surgery scheme and related clinical research.
9.Comparative study on the theme of traditional Chinese medicine policies among different provinces of China
Shuang YANG ; Ruifeng LI ; Xinying AN ; Zhihong XIAO ; Hongyun WANG ; Yan WANG ; Huan GOU ; Peng GAO ; Youliang HUANG
China Pharmacy 2023;34(6):653-659
OBJECTIVE To clarify the core content of traditional Chinese medicine (TCM) policy in the provinces of China, so as to provide reference for optimizing the structure of the policy system of traditional Chinese medicine in China and assisting the inheritance and innovation of TCM industry in various regions. METHODS The websites of directly affiliated organs in 31 provinces, excluding Hong Kong, Macao and Taiwan, were retrieved to collect the TCM policies released from 2000 to 2021. The importance of keywords in the TCM policies of each province was measured based on term frequency-inverse documentation frequency (TF-IDF) keyword extraction method, and the similarities and differences were analyzed among TCM policies. RESULTS & CONCLUSIONS A total of 99 documents related to TCM policies of various provinces were obtained in this study, most of which were released after 2016. The theme of national TCM policy covered four aspects: building TCM talent team, perfecting TCM service system, strengthening TCM resource management and promoting TCM industry innovation. The TF-IDF values of “medical institutions”“traditional Chinese medicine”“medical treatment” were higher than other keywords in each province, indicating that the provinces paid more attention to the construction of TCM service system and the management of TCM resources than other aspects. Anhui and Jiangsu, Beijing and Henan, Hubei and Jilin, Hubei and Tianjin, and Hubei and Yunnan had the more degree of similarity in TCM policies, which all contained 16 of the same keywords. Therefore, the above regions should be encouraged to strengthen exchanges and cooperation and realize mutual promotion and joint development. Among all the keywords whose importance ratio was greater than 0.2,“ Tibetan medicine” was unique to Qinghai and Tibet,“ disease type” was unique to Guangdong, and the TF-IDF value of “supervision and management” in Beijing was higher, indicating that the emphasis of TCM policy formulation in different provinces was various. Meanwhile, the top 10 keywords of TF- IDF value in all provinces did not have words related to financial input, and the TF-IDF values of “informatization” in most provinces did not rank at the top. It is suggested to increase financial input or encourage social financing, and add “Internet+new business” in the field of TCM.
10.Cardiac Structural and Functional Features in Patients With Type 2 Diabetes Mellitus and Heart Failure With Preserved Ejection Fraction:A Study Based on Propensity Score Matching.
Ke-Ling PENG ; Yong-Ming LIU ; Xiao-Yan JIA ; Hua WANG ; Chun-Li GOU ; Li-Li XUE ; Quan ZOU ; Wen-Jun ZHANG
Acta Academiae Medicinae Sinicae 2023;45(2):264-272
Objective To investigate the cardiac structural and functional characteristics in the patients with heart failure with preserved ejection fraction (HFpEF) and type 2 diabetes mellitus (T2DM),and predict the factors influencing the characteristics. Methods A total of 783 HFpEF patients diagnosed in the Department of Geriatric Cardiology,the First Hospital of Lanzhou University from April 2009 to December 2020 were enrolled in this study.Echocardiography and tissue Doppler technique were employed to evaluate cardiac structure and function.According to the occurrence of T2DM,the patients were assigned into a HFpEF+T2DM group (n=332) and a HFpEF group (n=451).Propensity score matching (PSM)(in a 1∶1 ratio) was adopted to minimize confounding effect.According to urinary albumin excretion rate (UAER),the HFpEF+T2DM group was further divided into three subgroups with UAER<20 μg/min,of 20-200 μg/min,and>200 μg/min,respectively.The comorbidities,symptoms and signs,and cardiac structure and function were compared among the groups to clarify the features of diabetes related HFpEF.Multivariate linear regression was conducted to probe the relationship of systolic blood pressure,blood glucose,glycosylated hemoglobin,and UARE with cardiac structural and functional impairment. Results The HFpEF+T2DM group had higher prevalence of hypertension (P=0.001) and coronary heart disease (P=0.036),younger age (P=0.020),and larger body mass index (P=0.005) than the HFpEF group,with the median diabetic course of 10 (3,17) years.After PSM,the prevalence of hypertension and coronary heart disease,body mass index,and age had no significant differences between the two groups(all P>0.05).In addition,the HFpEF+T2DM group had higher interventricular septal thickness (P=0.015),left ventricular posterior wall thickness (P=0.040),and left ventricular mass (P=0.012) and lower early diastole velocity of mitral annular septum (P=0.030) and lateral wall (P=0.011) than the HFpEF group.Compared with the HFpEF group,the HFpEF+T2DM group showed increased ratio of early diastolic mitral filling velocity to early diastolic mitral annular velocity (E/e') (P=0.036).Glycosylated hemoglobin was correlated with left ventricular mass (P=0.011),and the natural logarithm of UAER with interventricular septal thickness (P=0.004),left ventricular posterior wall thickness (P=0.006),left ventricular mass (P<0.001),and E/e' ratio (P=0.049). Conclusion The patients with both T2DM and HFpEF have thicker left ventricular wall,larger left ventricular mass,more advanced left ventricular remodeling,severer impaired left ventricular diastolic function,and higher left ventricular filling pressure than the HFpEF patients without T2DM.Elevated blood glucose and diabetic microvascular diseases might play a role in the development of the detrimental structural and functional changes of the heart.
Humans
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Aged
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Heart Failure/diagnosis*
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Diabetes Mellitus, Type 2
;
Stroke Volume
;
Glycated Hemoglobin
;
Blood Glucose
;
Propensity Score
;
Ventricular Function, Left
;
Hypertension

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