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Objective@#To investigate the factors affecting decreased ovarian reserve (DOR) among women of childbearing age, so as to provide insights into prevention of DOR.@*Methods@#Women with DOR at ages of 18 to 40 years that were admitted to Department of Gynecology, Ningbo Women and Children's Hospital during the period from January 2021 to June 2022 were recruited (DOR group), while healthy women at ages of 18 to 40 years during the same period served as normal controls. Participants' demographics, exercise, diet, previous medical history, childbearing history and menstruation were collected using questionnaire surveys. The follicle-stimulating hormone (FSH), luteinizing hormone (LH), anti-Müllerian hormone (AMH) and estradiol (E2) levels were tested. Factors affecting DOR were identified among women of childbearing age using a multivariable logistic regression model.@*Results@#There were 200 participants in the DOR group, with a median (interquartile range) age of 32 (9) years, and 200 participants in the normal group, with a median (interquartile range) age of 29 (12) years. Multivariable logistic regression analysis showed that underweight (OR=2.935, 95%CI: 1.374-6.269), overweight/obesity (OR=2.612, 95%CI: 1.335-5.065), high-oil-high-glucose-high-salt diet (OR=2.653, 95%CI: 1.616-4.357), menstrual disorder (OR=1.977, 95%CI: 1.284-3.041) and lack of exercise (OR=3.392, 95%CI: 2.052-5.606) were statistically correlated with the development of DOR among women of childbearing age.@*Conclusions@#Underweight, overweight/obesity, high-oil-high-glucose-high-salt diet, menstrual disorder and lack of exercise are factors affecting the development of DOR among women of childbearing age.
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Objective:To explore the correlation between tumor markers and prognosis of patients with idiopathic inflammatory myopathy (IIM) associated interstitial lung disease (ILD).Methods:A total of 149 patients who were no less than 18 years old and diagnosed with IIM-ILD from July 2017 to September 2019 in the First Affiliated Hospital of Zhengzhou University were consecutively enrolled in the study. Ten patients were lost to follow-up. The remaining 139 cases were regarded as research objects. Patients were divided into survival group or death group according to their one-year survival status. Then their baseline characteristics were compared. Univariate Cox regression analyses of age, gender, cancer, inflammatory indexes, muscle zymogram, tumor markers, ferritin, melanoma differentiation-associated gene 5 (MDA5) antibody and treatment regimens were conducted to identify prognostic risk factors of one-year mortality. Corrected multivariable cox regression was applied to screen the independent risk factors associated with one-year mortality of IIM-ILD. According to the cut-off value of carcinoembryonic antigen (CEA) and neuron specific enolase (NSE) (6 μg/L and 28 μg/L, respectively), patients were divided into high-level groups and low-level groups. Kaplan Meier survival curve were generated to compare one-year survival rate of high-level groups and low-level groups. On the basis of qualitative results of MDA5 antibody, patients were split into two groups with positive MDA5 antibody or negative MDA5 antibody. The differences of CEA, NSE levels between the two groups and the correlation between CEA, NSE levels and ferritin were analyzed.Results:Age, lactate dehydrogenase (LDH), CEA, carbohydrate antigen (CA) 199, NSE and ferritin in the death group were higher than those in the survival group, while the rate of immunosuppressant administration was lower than that in survival group ( P<0.05). Univariate regression analyses showed that CEA, cytokeratin 19 fragment (CYFRA211) and NSE were risk factors for one-year mortality of IIM-ILD. Adjusted by age, treatment regimens and tumor, multivariate regression analysis showed that CEA [ HR=1.112, 95% CI (1.017-1.214), P=0.019] and NSE [ HR=1.033, 95% CI (1.002-1.064), P=0.034] were independent risk factors for one-year mortality. One-year survival rate of the group with CEA≥6 μg/L was lower than that in the group with CEA<6 μg/L (Logrank test, P<0.001). Similarly, one-year survival rate of the group with NSE≥28 μg/L was lower than that in the group with NSE<28 μg/L (Logrank test, P<0.001). In addition, the CEA level in patients with positive MDA5 antibody was higher than that in patients with negative MDA5 antibody ( P<0.001). However, there was no correlation between NSE and MDA5 antibody. Moreover, serum levels of CEA ( r=0.299, P=0.002) and NSE ( r=0.349, P<0.001) were positively correlated with ferritin. Conclusions:Tumor markers have predictive value for the prognosis of IIM-ILD. Higher CEA and NSE are independent risk factors for poor prognosis in patients with IIM-ILD.
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Objective:To evaluate the influence of telomerase reverse transcriptase (TERT) promoter mutation on radioiodine uptake status of radioactive iodine refractory papillary thyroid cancer (RAIR-PTC) and radioiodine therapy response by analyzing the mutation frequency of TERT promoter in RAIR-PTC.Methods:A total of 37 patients with RAIR-PTC (15 males, 22 females, age (49.8±16.1) years) and 40 PTC patients with effective radioiodine therapy (13 males, 27 females, age (39.8±10.9) years) between January 2005 and June 2020 in JiangYuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine were retrospectively analyzed. TERT promoter mutation and B-Raf proto-oncogene, serine/threonine kinase (BRAF) V600E mutation of patients were observed. The differences across genotype patterns on radioiodine uptake status and therapy response were compared. The Fisher′s exact test and independent-sample t test were used for data analysis. Results:The incidence rate of TERT promoter mutation in the RAIR-PTC group was 40.54% (15/37, all C228T), which was significantly higher than that in the effective radioiodine therapy group (0, 0/40; P<0.001). No statistically significant difference was found for the mutation rate of BRAF V600E between the RAIR group (64.86%, 24/37) and the effective radioiodine therapy group (72.50%, 29/40; P=0.858). Patients with TERT promoter mutation were older ( t=3.76, P=0.001) and the non-intake rate of radioiodine in distant metastases of those patients was higher ( P=0.037). Furthermore, 2/3 of patients who received targeted therapies and 3/4 deaths had TERT promoter mutation. Among 35 patients with negative thyroglobulin antibody (TgAb), 11/14 of patients with TERT mutation had a rising stimulated thyroglobulin (sTg), while the percentage of the non-TERT mutation group was 57.1% (12/21; P=0.357). Conclusion:The TERT promoter mutation rate is significantly increased in RAIR-PTC patients and can serve as a prognostic predictor in RAIR.
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Objective:To explore the situation of insomnia, fatigue, depression, anxiety and cognitive impairment in adolescents with different characteristics, and the chain mediating effect of fatigue, depression and anxiety on insomnia and cognitive impairment.Methods:The general demographic data of 6 014 adolescents were collected.Insomnia severity index (ISI), the multidimensional fatigue inventory (MFI-20), patient health questionnaire-9 (PHQ-9), generalized anxiety disorder-7 (GAD-7) and perceived deficits questionnaire-depression(PDQ-D) were used to compare the insomnia, fatigue, depression, anxiety and cognitive impairment of adolescents with different characteristics.Spearman correlation analysis was conducted by SPSS 20.0 software.The significance of mediating effect was tested by deviation corrected nonparametric percentile Bootstrap method using SPSS macro program PROCESS.Results:The detection rates of insomnia, fatigue, depression, anxiety and cognitive impairment were different in adolescents with different genders, grades and academic achievements.Cognitive impairment was significantly positively correlated with insomnia ( r=0.654, P<0.01), fatigue ( r=0.476, P<0.01), depression ( r=0.677, P<0.01), anxiety ( r=0.655, P<0.01), which was suitable for mediating effect test.Fatigue, depression and anxiety in adolescents had a chain mediating effect between insomnia and cognitive impairment.Insomnia indirectly affects cognition by affecting fatigue and depressive symptoms.The intermediary effect value was 1.253, the effect amount was 55.60%, and the total effect was 2.254.Insomnia indirectly affects cognition by affecting fatigue and anxiety symptoms.The intermediary effect value was 1.161, the effect amount was 51.50%, and the total effect was 2.254. Conclusion:Insomnia can not only directly affect their cognitive impairment, but also indirectly affect their cognitive impairment through the chain mediation of fatigue, depression and anxiety of adolescents.
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Objective:To detect the expression of MYBL2 gene in gastric adenocarcinoma tissue and its effects on cell proliferation and invasion. Methods:A total of 100 cases of gastric adenocarcinoma tissue and 100 cases of paracancerous tissue were selected from patients who received surgery in The People's Hospital of Yuhuan between January 2017 and December 2020. Gastric adenocarcinoma cell lines MGC-803 were transfected with MYBL2 siRNA and siRNA control. The cells not transfected were used as controls. MYBL2 gene expression in gastric adenocarcinoma tissue and paracancerous tissue as well as MGC-803 were determined by quantitative real time-polymerase chain reaction. MGC-803 cell proliferation was determined by MTT. The invasive ability of MGC-803 cells was determined by Transwell assay. The migration ability of MGC-803 cells was determined by Scratch testing. MYBL2 protein expression in gastric adenocarcinoma tissue and paracancerous tissue as well as MGC-803 cells was determined by western blotting. Results:The relative mRNA expression of MYBL2 in gastric adenocarcinoma tissue was significantly higher than that in paracancerous tissue [(0.65 ± 0.17) vs. (0.18 ± 0.05), t = 26.52, P < 0.05). The relative mRNA expression of MYBL2 in the MYBL2 siRNA group (0.29 ± 0.07) was significantly lower than that in the control group (0.73 ± 0.12) and siRNA group (0.71 ± 0.16, t = 5.48, 4.16, both P < 0.05). MTT assay showed that after 24 and 48 hours of culture, MGC-803 cell proliferation rate in the MYBL2 siRNA group [(40.95 ± 5.46)%, (52.12 ± 12.27)%] was significantly lower than that in the control group [(67.84 ± 6.45)%, (87.83 ± 9.96)%] and siRNA group [(66.98 ± 7.85)%, (85.98 ± 10.24)%, t = 5.51, 3.91, 4.71, 3.67, all P < 0.05]. MGC-803 cell invasion rate in the MYBL2 siRNA group [ (62.12 ± 6.43)%] was significantly lower than that in the control group [(89.74 ± 6.56)%] and siRNA group [(88.83 ± 7.85)%, t = 5.20, 4.55, both P < 0.05]. The number of MGC-803 cells migrated in the MYBL2 siRNA group [(4.32 ± 0.84) × 10 3] was significantly lower than that in the control group [(8.95 ± 1.64) × 10 3] and siRNA group [(8.83 ± 1.78) × 10 3, t = 4.35, 3.96, both P < 0.05]. The gray value of MYBL2 protein in the gastric adenocarcinoma tissue was (0.56 ± 0.15), which was significantly higher than that in the paracancerous tissue [(0.23 ± 0.07), t = 19.93, P < 0.001]. The gray value of MYBL2 protein in the MYBL2 siRNA group was (0.21 ± 0.03), which was significantly lower than that in the control group (0.67 ± 0.15) and siRNA group (0.65 ± 0.19) ( t = 5.20, 3.96, both P < 0.05). Conclusion:MYBL2 gene is highly expressed in gastric adenocarcinoma tissue. siRNA silencing MYBL2 can decrease the ability of MGC-803 cells to proliferate, invade and migrate and downregulate MYBL2 expression. This study is highly innovative and scientific.
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Objective To analyze the characteristics of chronic hepatitis B (CHB) complicated with non-alcoholic fatty liver disease (NAFLD), and to provide countermeasures for the prevention of NAFLD. Methods A total of 348 patients with CHB admitted to our hospital from June 2018 to June 2021 were randomly selected and divided into experimental group (CHB combined with NAFLD, n=195) and control group (CHB, n=153) according to whether they had NAFLD or not. Basic data such as age, sex, BMI (kg/m2), history of diabetes, history of hypertension, and history of alcohol consumption were collected. Serum indexes such as liver function (AST, ALT, GGT, ALP, ALB), blood lipid (TG, ldl-c), fasting blood glucose (FBG) and virological indexes such as hepatitis B virus (HBV DNA) were collected. Results A total of 348 CHB patients were included in the study, including 195 (56.03%) patients with NAFLD. The high NAFLD incidence age was between 30 and 45 years old (163 cases, 46.84%). The incidence of NAFLD in male (131 cases, 70.81%) was significantly higher than that in female (64 cases, 39.26%) (χ2=35.005, P2=10.625, χ2=20.238, P45 years (χ2=2.005, P>0.05). There were no significant differences in the history of hypertension, ALT and ALP between the two groups (P>0.05). The differences in age, sex, BMI, history of diabetes, history of alcohol consumption, AST, TG, TG, FBG and FBG between the two groups were statistically different (P<0.05). Logistic regression analysis showed that increased BMI, AST, FBG and LDL were independent risk factors for NAFLD in CHB patients (P<0.05). Conclusions CHB with NAFLD often has glucolipid metabolic disorder, which is related to increased body mass index and AST. It is suggested that we should strengthen the health management of patients with high blood pressure, diabetes, overweight, and obesity, guide patient to balance their diet, adjust their diet structure, control their body weight and glycolipid abnormalities, adjust body fat, reduce blood pressure by drugs, and control blood sugar in a timely manner, and maintain a healthy lifestyle.
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OBJECTIVES@#Maternal periconceptional folic acid supplement is by far the most effective primary prevention strategy to reduce the incidence of congenital heart disease (CHD) in offspring. It was revealed that the underlying mechanisms are complex, including a combination of genetic and environmental factors. The purpose of this study is to investigate the association between periconceptional folic acid supplement, the genetic polymorphisms of maternal folic acid receptor 1 gene (FOLR1) and folic acid receptor 2 gene (FOLR2) and the impact of their interaction on the risk of CHD in offspring, and to provide epidemiological evidence for individualized folic acid dosing in hygienic counseling.@*METHODS@#A case-control study on 569 mothers of CHD infants and 652 mothers of health controls was performed. The interesting points were periconceptional folate supplements, single nucleotide polymorphisms (SNPs) of maternal FOLR1 gene and FOLR2 gene.@*RESULTS@#Mothers who took folate in the periconceptional period were observed a decreased risk of CHD [adjusted odds ratio (aOR)=0.58, 95% CI 0.35 to 0.95]. Our study also found that polymorphisms of maternal FOLR1 gene at rs2071010 (G/A vs G/G: aOR=0.67, 95% CI 0.47 to 0.96) and FOLR2 gene at rs514933 (T/C vs T/T: aOR=0.60, 95% CI 0.43 to 0.84; C/C vs T/T: aOR=0.55, 95% CI 0.33 to 0.90; the dominant model: T/C+ C/C vs T/T: aOR=0.59, 95% CI 0.43 to 0.81; and the addictive model: C/C vs T/C vs T/T: aOR=0.70, 95% CI 0.56 to 0.88) were significantly associated with lower risk of CHD [all P<0.05, false discovery rate P value (FDR_P)<0.1]. Besides, significant interaction between periconceptional folate supplements and rs2071010 G→A (aOR=0.59, 95% CI 0.41-0.86) and rs514933 T→C (aOR=0.52, 95% CI 0.37 to 0.74) on CHD risk were observed (all P<0.05, FDR_P<0.1).@*CONCLUSIONS@#Periconceptional folate supplements, polymorphisms of FOLR1 gene and FOLR2 gene and their interactions are significantly associated with risk of CHD. However, more studies in different ethnic populations with a larger sample and prospective designs are required to confirm our findings.
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Female , Humans , Infant , Case-Control Studies , Dietary Supplements , Folate Receptor 1/genetics , Folate Receptor 2/genetics , Folic Acid/administration & dosage , Heart Defects, Congenital/genetics , Hospitals , Polymorphism, Single Nucleotide , Prospective Studies , Risk FactorsABSTRACT
ObjectiveTo explore the mechanism of Broussonetiae Fructus （BF） in preventing and treating drug-induced liver injury （DILI） induced by acetaminophen （APAP） through the endoplasmic reticulum stress pathway. MethodSixty C57BL/6N mice were randomly divided into normal group， model group， silybin group （3.4 g·kg-1）， and high-， medium- and low-dose BF groups （3.0， 1.5， 0.75 g·kg-1）， with 10 mice in each group. The DILI model was induced by intragastric administration of APAP at 800 mg·kg-1， and drugs were administered simultaneously for 10 consecutive days. The serum contents or activities of alanine aminotransferase （ALT）， aspartate aminotransferase （AST）， total bilirubin （TBIL）， and direct bilirubin （DBIL） were measured. Hematoxylin-eosin（HE） staining was performed to observe the pathological changes in liver tissues. The morphological changes in liver mitochondria were observed by transmission electron microscopy. The activities or content of superoxide dismutase （SOD）， malondialdehyde （MDA）， total antioxidant capacity （T-AOC）， glutathione （GSH）， glutathione disulfide （GSSG）， glutathione peroxidase （GSH-Px）， and adenosine triphosphate （ATP） in the serum and liver tissues were detected by the colorimetric method. The expression of reactive oxygen species （ROS） in liver tissues was detected by immunofluorescence. The gene expression of glucose-regulated protein 78 （GRP78）， CCAAT/enhancer-binding protein homologous protein （CHOP）， and c-Jun N-terminal kinase （JNK） in liver tissues was detected by Real-time quantitative polymerase chain reaction （PCR）. ResultCompared with the normal group， the model group showed increased serum activities or content of ALT， AST， TBIL， and DBIL （P<0.01）， increased MDA and GSSG contents （P<0.01）， decreased contents or activities of SOD， T-AOC， GSH， GSH-Px， and ATP （P<0.01）， swollen hepatocytes with inflammatory infiltration and lamellar necrosis， swollen and broken mitochondria of hepatocytes， and increased mRNA expression of GRP78， CHOP， and JNK （P<0.01）. Compared with the model group， the groups with drug intervention showed decreased serum content or activities of ALT， AST， TBIL， and DBIL （P<0.05， P<0.01）， reduced MDA and GSSG contents（P<0.05， P<0.01）， and increased contents or activities of SOD， T-AOC， GSH， GSH-Px， and ATP （P<0.05， P<0.01）， improved swollen hepatocytes， inflammatory infiltration， and lamellar necrosis， recovered bilayer membrane structure in mitochondria of hepatocytes， and decreased mRNA expression of GRP78， CHOP， and JNK （P<0.05， P<0.01）. ConclusionBF has preventive and therapeutic effects on APAP-induced DILI mice， and the mechanism may be related to the reduction of endoplasmic reticulum stress and oxidative stress level in vivo.
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Objective:To investigate the clinical characteristics, imaging features, treatment, prognosis, and possible causes of myelodysplastic syndrome complicated by acute cerebral infarction.Methods:The clinical data of four patients with myelodysplastic syndrome complicated by acute cerebral infarction who received treatment at Peking University International Hospital and Beijing Jingcheng Boai Hospital from January to December 2021 were retrospectively analyzed.Results:All four patients experienced myelodysplastic syndrome complicated by acute cerebral infarction for the first time. They were aged 60-69 years, with a median age of 65 years. Bone marrow suppression occurred in the four patients with myelodysplastic syndrome after chemotherapy, resulting in a remarkable reduction in the number of platelets. All four patients had just been transfused with platelets before the onset of myelodysplastic syndrome complicated by acute cerebral infarction. The main clinical manifestations were dyskinesia, language disorder, paresthesia, and dizziness. Three patients had multiple foci, two of them involved bilateral cerebral hemispheres, and only one patient had a single focus. Circulation improvement and symptomatic treatment were given after admission. Two patients with cerebral hernia died, and two patients were discharged after improvement.Conclusion:The pathogenesis of myelodysplastic syndrome complicated by acute cerebral infarction is complex. It includes many causes rather than common risk factors for stroke. Myelodysplastic syndrome complicated by acute cerebral infarction is rare in the clinic. It is difficult to treat, is serious, and has a poor prognosis.
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Objective:To explore hot spots and trend of medical education quality assurance research in China and provide reference for future research.Methods:We searched the database of CNKI, VIP, Wanfang Database for published studies on quality assurance of medical education research in China. In the form of knowledge mapping, word frequency analysis, social network analysis and cluster analysis were used to explore the research hot spots from the perspective of high frequency keywords. SATI3.2 and Excel tables were used as statistical analysis tools for bibliographic information, the field extraction and word frequency statistics of literature keywords. Using SPSS 20.0, cluster analysis was carried out according to the similarity matrix of high frequency keywords co-occurrence.Results:Totally 249 articles were included in the study and 33 high frequency words were taken into account. The research hot spots of medical education quality assurance in China were divided into four categories: the practical application of medical education quality assurance, the effective methods of medical education quality assurance, the exploration of the construction of medical education quality assurance system, and the management of medical teaching quality assurance.Conclsion:Medical education in our country should perfect the safeguard measures to form characteristic theory framework, explore other methods for medical education quality assurance, establish medical education education quality guarantee system, and strengthen the teaching quality monitoring. The future researches should comply with the national "Double First-rate" construction and the development trend of international medical education, and enhance the research of connotative quality assurance.
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Cultivating comprehensive personnel with competent professional ethics, technical skills and scientific research capabilities is the goal and task of today's laboratory medical education. How to make full use of diversified teaching materials, tools and methods to improve teaching quality is worthy of exploration and thinking in laboratory medical teaching units. In this paper, using mind map as a tool, taking the COVID-19 epidemic as an example, we intend to design a set of multidisciplinary and all-round integrated curriculum of medical laboratory education, and discuss the application status and prospect of integrated curriculum and mind map in medical laboratory education. Through doing this, we aim to optimize the training goals of laboratory medicine education, innovate the teaching methods and boost the training efficiency of laboratory medicine education to keep up with the times.
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Objective:To compare the difference and consistency of anterior corneal surface and total corneal refractive power and astigmatism measured by CASIA2, IOLMaster 700 and Pentacam in patients with age-related cataract.Methods:A diagnostic test was conducted.Two-hundred patients (200 eyes) with age-related cataract were enrolled in Tianjin Medical University Eye Hospital from March to April 2021.The steep keratometry (Ks), flat keratometry (Kf), mean keratometry (Km), degree and axis of astigmatism of the anterior and the total corneal surface of patients were measured by CASIA2, IOLMaster 700 and Pentacam, respectively.The astigmatism was transformed into J0 and J45 by Fourier transform formula.The differences and correlation of the measurements obtained with the three instruments were analyzed by one-way repeated measures analysis of variance and Pearson correlation analysis.The consistency was evaluated by Bland-Altman test.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Tianjin Medical University Eye Hospital (No.2021KY-07).Results:There were statistically significant differences in anterior corneal surface Kf and J0 measured by the three instruments ( F=18.563, 16.172; both at P=0.001). The Kf measured by CASIA2 was significantly higher than that measured by IOLMaster 700, and the J0 measured by IOLMaster 700 was significantly higher than that measured by Pentacam (both at P<0.05). There were statistically significant differences in total corneal Ks, Kf, Km and J0 measured by the three instruments, which from IOLMaster 700 were the largest, followed by CASIA2, then Pentacam ( F=1 300.447, 1 274.117, 1 609.713, 10.372; all at P=0.001). Pearson correlation analysis showed that the corneal refractive power measured by the three instruments was highly correlated (all at r>0.935, P<0.01), and the correlation of astigmatism values was weaker than the corneal refractive power ( r=0.623-0.908, all at P<0.01). Bland-Altman analysis showed that the three instruments had good consistency in measuring the anterior corneal surface refractive power, anterior corneal surface astigmatism and total corneal astigmatism, which were clinically acceptable, while the consistency of total corneal refractive power measurement was poor.The difference in measuring total corneal refractive power was large between IOLMaster 700 and Pentacam, and relatively small between CASIA2 and Pentacam. Conclusions:The consistency of CASIA2, IOLMaster 700 and Pentacam is good in measuring the anterior corneal surface refractive power of patients with age-related cataract, which can be substitutable, but poor in measuring the total corneal refractive power.The total corneal refractive power measurement from IOLMaster700 is the largest, the smallest from Pentacam, which is not recommended to be clinically exchangeable.
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Objective:To explore the clinical features and pathogenic causes of a Chinese Han family with Wagner syndrome, and to analyze the relationship between VCAN gene mutation and patient phenotype. Methods:The method of family pedigree investigation was adopted.A Chinese Han family with Wagner syndrome in 3 generations including 13 family members was collected in Xiamen Eye Center of Xiamen University in January 2020, and 5 patients from 3 generations were diagnosed.All members underwent a comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, intraocular pressure, slit lamp microscopy, and ophthalmoscopy to analyze the condition of anterior segment and fundus.Anterior segment photography, fundus photography, optical coherence tomography and ultrasound biological microscopy were carried out in the proband and some patients to analyze the condition of anterior segment, fundus and anterior chamber angle.The peripheral venous blood of all family members was collected for genomic DNA extraction, and pathogenic gene variation analysis for verification was through high-throughput target region capture sequencing and Sanger sequencing.Variants were scored using the American College of Medical Genetics and Genomics (ACMG) guidelines, and the structure and function of variants were predicted through PredictProtein.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.MR-35-22-002800).Written informed consent was obtained from each subject.Results:The Chinese pedigree with Wagner syndrome was in accordance with autosomal dominant inheritance pattern, and all patients had no history of systemic disease or other abnormal manifestations.The common ophthalmic features of the patients were abnormal suspensory ligament, premature cataract, vitreous cavity, vitreous condensation, veil-like proliferative membrane in the vitreous cavity, retinal choroid atrophy and thinning, tractional retinal detachment, and retinal pigmentation.The proband had binocular cataract surgery, and binocular intraocular lens dislocation occurred after the operation.Genetic analysis revealed that a heterozygous splice site variation c.9265+ 1G>A in the VCAN gene in this family was co-segregated with the disease phenotype and graded as a likely pathogenic variant by the ACMG guidelines.This variant base pair substitution could cause the formation of a protein product with 1 754 amino acids shorter, resulting in insufficient haploid dosage and severe reduction of glycosaminoglycan attachment sites, making the versican protein dysfunctional. Conclusions:It is the first time to report a Chinese family with Wagner syndrome in China, and it is confirmed that the family has a heterozygous variation in the VCAN gene c.9265+ 1G>A by molecular genetic analysis.
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Objective:To investigate the relationship between plasma fibrinogen(FIB) levels and early neurological deterioration(END) in elderly patients with type 2 diabetes mellitus(DM) after acute cerebral infarction(ACI).Methods:136 ACI patients admitted to the neurology department of our hospital from January 2018 to December 2019 were included as study subjects.Patients were divided into an END group and a non-END group based on whether END occurred.Univariate and multivariate analyses were conducted to assess the relationship between FIB and END.Elderly patients with concurrent ACI and DM were divided into an END group(18 cases)and a non-END group(26 cases)for propensity score matching analysis.After matching adjustment, age, sex, hypertension, TOAST classification and FIB were analyzed by multivariate Logistic regression.Results:Among 136 patients with ACI, 38(27.9%)had END and 98(72.1%)did not have END and the END group had higher values or percentages than the non-END group in age[(62.3±2.4)ys and(59.2±1.8)ys, t=2.035, P=0.044], history of hypertension(76.3% and 57.1%, χ2=4.295, P=0.038), history of diabetes(47.4% and 26.5%, χ2=5.433, P=0.020), NIHSS score[(8.5±5.7)and(6.1±4.6), t=2.548, P=0.012], TOAST classification(large artery atherosclerosis: 65.8% vs.40.8%, cardioembolism: 5.3% vs.10.2%, small artery occlusion: 23.7% vs.23.5%, other determined cause: 2.6% vs.20.4%, undetermined cause: 2.6% vs.5.1%, χ2=10.314, P=0.035), blood glucose[(8.89±1.28)mmol/L and(7.36±1.64)mmol/L, t=6.048, P=0.000]and FIB level[(3.57±1.33)g/L and(3.07±1.14)g/L, t=2.236, P=0.027]. Multiple regression analysis showed that higher FIB levels were not associated with END( P>0.05). Propensity score matching analysis of 44 patients with concurrent ACI and DM showed that history of hypertension, NIHSS score and FIB level before matching were significantly higher in the END group than in the non-END group( P<0.05)and FIB was higher in the END group than in the non-END group after matching.Multiple regression analysis showed that FIB was significantly associated with END. Conclusions:Increased FIB levels are positively correlated with END in patients with diabetes following acute ischemic stroke and possess good predictive value.
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Objective:To investigate whether myocardial inflammation and apoptosis are involved in right ventricular dysfunction (RVD) induced by injurious mechanical ventilation with high tidal volume (VT) in rats.Methods:Total 30 adult male SD rats were randomly divided into the control group (CON group), the low VT ventilation group (LVT group) and the injurious mechanical ventilation group (HVT group), with 10 rats in each group. The CON group was maintained spontaneous breathing, the LVT group and HVT group were ventilated with different VT 6 mL/kg and 20 mL/kg for 4 hours, respectively. The right jugular vein and the left carotid artery were catheterized and connected with the PowerLab biological signal acquisition and analysis system to record heart rate (HR), mean arterial pressure (MAP), right ventricular systolic pressure (RVSP), the maximum rate of rising of right ventricular pressure (+dp/dt max). Echocardiography was performed to measure left ventricular end-diastolic diameter (LVEDd), right ventricular end-diastolic diameter (RVEDd), tricuspid annulus plane systolic migration (TAPSE) and myocardial performance index (MPI). The rats were sacrified by cervical dislocation. Specimens of right ventricle tissues were taken for hematoxylin-eosin (HE) staining, and morphological changes of right ventricle tissues were observed under light microscope. Real time reverse transcription-polymerase chain reaction (RT-PCR) and Western blotting were used to detect the mRNA and protein expressions of interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), caspase-3, apoptosis-related proteins Bax and Bcl-2.Results:HR, MAP, +dp/dt max gradually decreased, while RVSP gradually increased in different group with the increase of VT ventilation. There was no significant difference between the CON group and LVT group. However, there was a statistically significant difference with respect to these index in HVT group as compared to CON group and LVT group [HR (bpm): 397.6±5.7 vs. 433.0±4.8, 441.6±7.8; MAP (mmHg, 1 mmHg≈0.133 kPa): 102.0±2.4 vs. 108.5±2.2, 110.6±2.1; +dp/dt max (mmHg/s): 2 357.65±62.80 vs. 2 661.27±55.62, 2 679.43±75.13; RVSP (mmHg): 28.8±1.0 vs. 22.6±10.8, 21.9±0.4; all P < 0.05]. Echocardiography findings showed that RVEDd/LVEDd and MPI gradually increased, TAPSE gradually decreased in different group with the increase of VT ventilation. There was no significant difference between the LVT group and CON group. However, there was a statistically significant difference with respect to these indexes in HVT group as compared to the CON group and LVT group [RVEDd/LVEDd: 0.36±0.02 vs. 0.26±0.01, 0.23±0.02; MPI: 1.23±0.03 vs. 0.84±0.04, 0.86±0.03; TAPSE (mm): 1.65±0.03 vs. 1.88±0.02, 1.91±0.04; all P < 0.05]. Histopathological observation of the right ventricle tissue showed that myocardial cells of the rats in the CON group were orderly arranged and uniformed in size. In the LVT group, there was a small amount of inflammatory cell infiltration in the myocardial interstitium, while in the HVT group, the myocardial cell arrangement was obviously disordered, the structure was obviously damaged, and more inflammatory cell infiltration was found. RT-PCR and Western blotting analysis showed that the mRNA and protein expressions of IL-6, TNF-α, caspase-3 and Bax in HVT group were significantly higher than those in the LVT group and CON group [mRNA expression (2 -ΔΔCt): IL-6 were 1.97±0.07 vs. 1.09±0.02, 1.02±0.03, TNF-α were 1.69±0.10 vs. 1.10±0.03, 1.05±0.04, caspase-3 were 1.82±0.09 vs. 1.08±0.02, 1.06±0.03, Bax were 2.19±0.14 vs. 1.07±0.03, 1.04±0.03; protein expression (gray value): IL-6 were 0.64±0.02 vs. 0.38±0.03, 0.31±0.04, TNF-α were 0.50±0.04 vs. 0.16±0.01, 0.15±0.01, caspase-3 were 0.58±0.02 vs. 0.29±0.01, 0.25±0.02, Bax were 0.50±0.03 vs. 0.21±0.01, 0.26±0.02; all P < 0.05], and the mRNA and protein expressions of Bcl-2 in the HVT group were lower than those in the LVT group and CON group [mRNA expression (2 -ΔΔCt): 1.23±0.05 vs. 1.43±0.05, 1.50±0.08; protein expression (gray value): 0.42±0.02 vs. 0.62±0.03, 0.65±0.03, all P < 0.05]. Conclusion:Myocardial inflammation and apoptosis may be involved in RVD induced by injurious mechanical ventilation.
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Objective@#Schizophrenia (SCZ) is one of the most common and severe mental disorders. Modified electroconvulsive therapy (MECT) is the most effective therapy for all kinds of SCZ, and the underlying molecular mechanism remains unclear. This study is aim to detect the molecule mechanism by constructing the transcriptome dataset from SCZ patients treated with MECT and health controls (HCs). @*Methods@#Transcriptome sequencing was performed on blood samples of 8 SCZ (BECT: before MECT; AECT: after MECT) and 8 HCs, weighted gene co-expression network analysis (WGCNA) was used to cluster the different expression genes, enrichment and protein-protein interaction (PPI) enrichment analysis were used to detect the related pathways. @*Results@#Three gene modules (black, blue and turquoise) were significantly associated with MECT, enrichment analysis found that the long-term potentiation pathway was associated with MECT. PPI enrichment p-value of black, blue, turquoise module are 0.00127, <1×10-16 and 1.09×10-13, respectively. At the same time, EP300 is a key node in the PPI for genes in black module, which got from the transcriptome sequencing data. @*Conclusion@#It is suggested that the long-term potentiation pathways were associated with biological mechanism of MECT.
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Acute pancreatitis (AP) is a common acute abdominal disease in clinical practice. As the hepatic manifestation of metabolic syndrome, nonalcoholic fatty liver disease (NAFLD) is closely associated with the severity and prognosis of AP. This article elaborates on the mechanism of action of NAFLD in the development and progression of AP and further points out that NAFLD can induce AP and aggravate its severity through many ways.
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Insomnia has become a common central nervous system disease. At present, the pathogenesis of insomnia is not clear. Animal models can help us understand the pathogenesis of the disease and can be used in transformational medicine. Therefore, it is very necessary to establish an appropriate model of insomnia. Clinical data show that insomnia patients with high levels of thyroxine and often accompanied by cardiovascular problems, a common mechanism underlying all of these physiological disruptions is the sympathetic nervous system. Combined with the characteristics of chronic onset of clinical insomnia, an insomnia model induced by long-term intraperitoneal injection of thyroid hormone has been created in our laboratory. In this paper, the insomnia-like state of the model was evaluated based on three validity criteria. Face validity has been demonstrated in metabolism, the Morris water maze, electrocardiogram (ECG) and electroencephalogram (EEG). Structure validity has been proved by the results of targeted metabolomics. After treatment with diazepam, a commonly used clinical anti-insomnia drug, the above physiological and pathological disorders were reversed. The results of comprehensive analysis show that the established thyrotoxicosis-associated insomnia model meets the validity requirement to establish an appropriate animal model of insomnia. The model presented in this article might help to study pathogenetic mechanisms of clinical insomnia, as well as to test promising methods of insomnia treatment.
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Objective:To evaluate the effect of remifentanil on mitogen-activated protein kinase (MAPK) signaling pathway during intestinal epithelial cell apoptosis induced by intestinal ischemia-reperfusion (I/R) in rats.Methods:Thirty-six clean grade healthy adult male Sprague-Dawley rats, weighing 200-250 g, aged 2 months, were divided into 3 groups ( n=12 each) by a random number table method: sham operation group (Sham group), intestinal I/R group (I/R group) and remifentanil group (R group). Intestinal I/R was produced by occlusion of superior mesenteric artery for 1 h followed by reperfusion in anesthetized rats.At 30 min before ischemia, 0.2 μg·kg -1·min -1 of remifentanil was infused intravenously for 5 min , followed by infusion of normal saline for 5 min, repeating for 3 cycles in group R. At 2 h of reperfusion, blood samples were collected from right ventricle to measure the concentration of diamine oxidase (DAO). The animals were then sacrificed and the intestinal tissues were obtained for examination of pathological changes and scored according to Chiu, for calculation of intestinal epithelial cell apoptosis rate (by TUNEL), for determination of the expression of phosphorylated extracellular signal-regulated kinase (p-ERK), phosphorylated c-Jun N-terminal kinase (p-JNK), phosphorylated p38 MAPK (p-p38 MAPK), cleaved caspase-3 and nuclear factor kappa B p65 (NF-κB p65) in nucleoprotein and for calculation of p-ERK/ERK ratio, p-JNK/JNK ratio and p-p38 MAPK/p38 MAPK ratio in the intestinal tissues. Results:Compared with group Sham, Chiu′s scores, serum DAO concentration, apoptosis rate, p-ERK/ERK ratio, p-JNK/JNK ratio and p-p38 MAPK/p38 MAPK ratio and the expression of cleaved caspase-3 and NF-κB p65 in the intestinal tissues were significantly increased in group I/R, and Chiu′s scores was increased ( P<0.05), and no significant change was found in serum DAO concentration, apoptosis rate, p-ERK/ERK ratio, p-JNK/JNK ratio, p-p38 MAPK/p38 MAPK ratio and the expression of cleaved caspase-3 and NF-κB p65 in the intestinal tissues in group R ( P>0.05). Compared with group I/R, Chiu′s scores, apoptosis rate, serum DAO concentration, p-ERK/ERK ratio and expression of cleaved caspase-3 and NF-κB p65 were significantly decreased in group R ( P<0.05). Conclusion:The mechanism by which remifentanil inhibits intestinal epithelial cell apoptosis induced by intestinal I/R is related to promoting activation of ERK in rats.
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Objective@#Schizophrenia (SCZ) is one of the most common and severe mental disorders. Modified electroconvulsive therapy (MECT) is the most effective therapy for all kinds of SCZ, and the underlying molecular mechanism remains unclear. This study is aim to detect the molecule mechanism by constructing the transcriptome dataset from SCZ patients treated with MECT and health controls (HCs). @*Methods@#Transcriptome sequencing was performed on blood samples of 8 SCZ (BECT: before MECT; AECT: after MECT) and 8 HCs, weighted gene co-expression network analysis (WGCNA) was used to cluster the different expression genes, enrichment and protein-protein interaction (PPI) enrichment analysis were used to detect the related pathways. @*Results@#Three gene modules (black, blue and turquoise) were significantly associated with MECT, enrichment analysis found that the long-term potentiation pathway was associated with MECT. PPI enrichment p-value of black, blue, turquoise module are 0.00127, <1×10-16 and 1.09×10-13, respectively. At the same time, EP300 is a key node in the PPI for genes in black module, which got from the transcriptome sequencing data. @*Conclusion@#It is suggested that the long-term potentiation pathways were associated with biological mechanism of MECT.