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1.
Waste Manag Res ; : 734242X231219650, 2024 Jan 31.
Article in English | MEDLINE | ID: mdl-38297507

ABSTRACT

The growing demand for new energy vehicles (NEVs) has resulted in a corresponding increase in demand for cobalt as a critical material. It is crucial to estimate the cobalt resource recycling potential of China's NEV industry to ensure a balance between the supply and demand for cobalt metal minerals. This article is based on using the historical data of the new energy passenger vehicle (NEPV) sales volume from 2013 to 2022 to estimate the NEPV sales volume from 2023 to 2035. On this basis, the Weibull distribution was used to analyse the different sales scenarios (low sales and high sales) of NEPVs in China, and the recycling potential of cobalt metal in NEPVs was evaluated under three battery life scenarios (8, 10 and 12 years) from 2023 to 2035. Based on the above scenarios, in 2035, the greatest recycling potential of cobalt is predicted to be 166.9 kilotonnes, with economic values of CNY 49.01-94.60 billion. Moreover, the extent to which the recycling potential of cobalt can cover the market demand for NEPVs was analysed. Our analysis concluded that recycling cobalt as a secondary supply has emerged as a necessary solution to supplement the primary supply, which can make a significant contribution to alleviating the pressure of the supply and demand.

2.
PLoS One ; 18(6): e0284238, 2023.
Article in English | MEDLINE | ID: mdl-37267409

ABSTRACT

This study investigated the impact of axial load on the dynamic response of reinforced concrete (RC) members to asymmetrical lateral impact loads. A series of asymmetrical-span impact tests were conducted on circular and square RC members with and without Carbon Fiber Reinforced Polymers (CFRP) while varying the axial compression ratios. The impact process was simulated using ABAQUS software, and the time history curves of deflection and impact were measured. The study found that specific impact loads caused bending and shearing failures. The axial compression ratio ranged from 0.05 to 0.13 when the impact curve reached its maximum deflection before the component's impact resistance decreased. Analysis of the impact point and inclined crack location revealed that axial load affects the maximum local concrete. The speed of inclined crack penetration and inclined cracks take longer to form, with weaker resistance to damage to local concrete when the axial compression ratio is between 0.05 and 0.13. When the axial compression ratio is greater than 0.13, inclined cracks form sooner with more brittle and severe damage to the impact point's concrete. The study also identified key parameters affecting the dynamic response of RC members, including impact height, CFRP layer thickness, axial force, and impact location. Thicker CFRP layers in RC can improve impact resistance, especially when the impact location is farther from the center. However, there is a limit to the impact of axial force on this resistance.


Subject(s)
Data Compression , Polymers , Carbon Fiber , Plastics
3.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-991173

ABSTRACT

Glucose transporter 1(GLUT1)overexpression in tumor cells is a potential target for drug therapy,but few studies have reported screening GLUT1 inhibitors from natural or synthetic compounds.With cur-rent analysis techniques,it is difficult to accurately monitor the GLUT1 inhibitory effect of drug molecules in real-time.We developed a cell membrane-based glucose sensor(CMGS)that integrated a hydrogel electrode with tumor cell membranes to monitor GLUT1 transmembrane transport and screen for GLUT1 inhibitors in traditional Chinese medicines(TCMs).CMGS is compatible with cell membranes of various origins,including different types of tumors and cell lines with GLUT1 expression knocked down by small interfering RNA or small molecules.Based on CMGS continuous monitoring technique,we inves-tigated the glucose transport kinetics of cell membranes with varying levels of GLUT1 expression.We used CMGS to determine the GLUT1-inhibitory effects of drug monomers with similar structures from Scutellaria baicalensis and catechins families.Results were consistent with those of the cellular glucose uptake test and molecular-docking simulation.CMGS could accurately screen drug molecules in TCMs that inhibit GLUT1,providing a new strategy for studying transmembrane protein-receptor interactions.

4.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-981806

ABSTRACT

OBJECTIVE@#To depict the cell landscape and molecular biological characteristics of human intrauterine adhesion (IUA) so as to better understand its immune microenvironment and provide new inspirations for clinical treatment.@*METHODS@#Four patients with IUA who underwent hysteroscopic treatment at Dongguan Maternal and Child Health Care Hospital from February 2022 to April 2022 were selected as the study subjects. Hysteroscopy was used to collect the tissues of IUA, which were graded based on the patient's medical history, menstrual history and status of IUA. Library construction, sequencing, single cell data comparison and gene expression matrix construction were carried out in strict accordance with the single cell RNA sequencing process. Thereafter, the UMAP dimension reduction analysis of cell population and genetic analysis were carried out based on the cell types.@*RESULTS@#A total of 27 511 cell transcripts were obtained from four moderately graded IUA tissue samples and assigned to six cell lineages including T cells, mononuclear phagocytes, epithelial cells, fibroblasts, endothelial cells and erythrocytes. Compared with normal uterine tissue cells, the four samples showed different cell distribution, and the proportions of mononuclear phagocytes and T cells in sample IUA0202204 were significantly increased, suggesting a strong cellular immune response.@*CONCLUSION@#The cell diversity and heterogeneity of moderate IUA tissues have been described. Each cell subgroup has unique molecular characteristics, which may provide new clues for further study of the pathogenesis of IUA and heterogeneity among the patients.


Subject(s)
Pregnancy , Female , Child , Humans , Endothelial Cells , Uterine Diseases/complications , Hysteroscopy/methods , Tissue Adhesions/etiology , Sequence Analysis, RNA
5.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-981803

ABSTRACT

OBJECTIVE@#To carry out carrier screening for Spinal muscular atrophy (SMA) in reproductive-aged individuals from Dongguan region and determine the carrier frequency of SMN1 gene mutations.@*METHODS@#Reproductive-aged individuals who underwent SMN1 genetic screening at the Dongguan Maternal and Child Health Care Hospital from March 2020 to August 2022 were selected as the study subjects. Deletions of exon 7 and 8 (E7/E8) of the SMN1 gene were detected by real-time fluorescence quantitative PCR (qPCR), and prenatal diagnosis was provided for carrier couples by multiple ligation-dependent probe amplification (MLPA).@*RESULTS@#Among the 35 145 subjects, 635 were found to be carriers of SMN1 E7 deletion (586 with heterozygous E7/E8 deletion, 2 with heterozygous E7 deletion and homozygous E8 deletion, and 47 with sole heterozygous E7 deletion). The carrier frequency was 1.81% (635/35 145), with 1.59% (29/1 821) in males and 1.82% (606/33 324) in females. There was no significant difference between the two genders (χ² = 0.497, P = 0.481). A 29-year-old woman was found to harbor homozygous deletion of SMN1 E7/E8, and was verified to have a SMN1∶SMN2 ratio of [0∶4], none of her three family members with a [0∶4] genotype had clinical symptoms. Eleven carrier couples had accepted prenatal diagnosis, and one fetus was found to have a [0∶4] genotype, and the pregnancy was terminated.@*CONCLUSION@#This study has determined the SMA carrier frequency in Dongguan region for the first time and provided prenatal diagnosis for carrier couples. The data can provide a reference for genetic counseling and prenatal diagnosis, which has important clinical implications for the prevention and control of birth defects associated with SMA.


Subject(s)
Humans , Child , Pregnancy , Male , Female , Adult , Homozygote , Sequence Deletion , Prenatal Diagnosis , Genetic Testing , Muscular Atrophy, Spinal/genetics , Survival of Motor Neuron 1 Protein/genetics , Genetic Carrier Screening
6.
Sci Rep ; 12(1): 14793, 2022 Aug 30.
Article in English | MEDLINE | ID: mdl-36042277

ABSTRACT

Traffic accidents and derailed train-related incidents have occurred more often than ever in recent years, resulting in some economic damage and casualties. Reinforced concrete (RC) constructions often involve derailed train and vehicle accidents. Rarely are such side collisions studied in previous studies. To do this, high-fidelity simulation-based finite-element (FE) models are created in this paper to accurately simulate the collision of circular RC members with a derailed train. The reinforced concrete member structure is common in high-speed railway stations. The impact energy of the impact body is significant, causing structural member failure. It analyses the dynamic behavior of reinforced concrete members under unequal span impact loads. Numerical implementations of impact issues are discussed from the perspective of geometric, contact, and material properties. The reliability and precision of the ABAQUS code to solve impact issues are verified by comparing failure modes, impact, and deflection time history experimental outputs. By analysing the impact response characteristics, used the control variables to study the failure process and mode (including the characteristics of impact and reaction forces, deflection time history curve, impact force-deflection curve, and bearing reaction force-deflection curve). The reinforcement ratio, impact velocity, concrete strength, and slenderness ratio significantly affect shear crack pattern and development. Changes in impact velocity and slenderness ratio also affect member failure modes.

7.
Gene ; 840: 146767, 2022 Oct 05.
Article in English | MEDLINE | ID: mdl-35905847

ABSTRACT

INTRODUCTION: Monosomy of terminal 16p13.3 is a relatively common subtelomeric abnormality, most affected individuals presented α-thalassemia, some also have mental retardation, developmental abnormalities and/or speech delay and facial dysmorphism, which is termed ATR-16 syndrome. Here, we reported two novel 16p13.3 deletions involving the α-globin gene cluster and multispecies conserved sequences (MCSs), causing only a phenotype of α-thalassemia. METHODS: Samples were collected from members of the two families and were subjected to haematological and comprehensive genetic analysis. RESULTS: The novel 108 Kb deletion in family A extends from the non-protein coding RNA gene (WASIR2) to the NPRL3 gene, removing MCS-R1 to R3. This deletion should arise de novo because it wasn't detected in both parents. The novel 336 Kb deletion in family B should extend from telomere to âˆ¼ chr16:336000, removing the entire α-globin gene cluster. Carriers of these two deletions presented with microcytosis and hypochromic red cells, in accordance with a phenotype of α0-thalassemia carrier. CONCLUSION: Our study increases the mutation spectrum of α-thalassemia. MCSs deletion should be considered in clinical practice of thalassemia screening and diagnosis.


Subject(s)
alpha-Globins , alpha-Thalassemia , Asian People/genetics , China , GTPase-Activating Proteins/genetics , Humans , Multigene Family , alpha-Globins/genetics , alpha-Thalassemia/genetics
8.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-933886

ABSTRACT

Objective:To analyze the clinical value of noninvasive prenatal testing (NIPT) in vanishing twin (VT) pregnancies.Methods:A total of 164 VT pregnancies that underwent NIPT in Peking University Third Hospital from January 2017 to December 2020 were enrolled. Gestational age at onset of vanishing, results of NIPT and invasive prenatal diagnosis, blood sampling time points, and pregnancy outcomes were retrospectively analyzed using two independent samples t test and Chi-square test. Results:(1) Of the 164 cases, six had positive results for NIPT, but negative results for karyotype analysis or single nucleotide polymorphism genotyping, with a false positive rate of 3.7% (6/164) for NIPT and all of them were delivered at term. Four pregnancies terminated in the second trimester, including two fetal malformation cases and one unexplained intrauterine death whose single nucleotide polymorphisms results are all normal and one inevitable abortion case due to premature rupture of membrane who refused amniocentesis. The other 154 women all gave birth to normal phenotype babies including 12 preterm ones. (2) The false-positive rate of NIPT was lower in VT pregnancies diagnosed at less than eight gestational weeks than those diagnosed after [1.5% (2/134) vs 13.3% (4/30), χ2=6.68, P=0.010]. The false-positive rate was 6.9% (4/58) in women diagnosed at or below eight weeks between the occurrence of VT and blood sampling and was 1.9% (2/106) in those with interval more than eight weeks, but without significant difference ( χ2=1.44, P=0.231). Conclusions:Although VT pregnancies exist false-positive results in NIPT, screening is still recommended based on fully informed consent to reduce unnecessary invasive prenatal diagnosis. The earlier the onset of VT, the lower the NIPT false positive rate, but whether extending the sampling interval would reduce the risk of false-positive needs further study.

9.
Chem Commun (Camb) ; 57(78): 10035-10038, 2021 Sep 30.
Article in English | MEDLINE | ID: mdl-34505599

ABSTRACT

A novel intermolecular system D-π⋯π'-A was constructed with tetraphenylethylene (TPE) and borondipyrromethene (BODIPY), which had a synergistic effect on PDT and PTT (1 + 1 > 2). The PTT effect of TPD-BOA(D/A) was 1.7 times the sum of BOA + TPD; the effect of PDT(TPA+BOD) was 1.45 times the sum of TPA + BOD.

10.
Materials (Basel) ; 14(13)2021 Jun 27.
Article in English | MEDLINE | ID: mdl-34199121

ABSTRACT

Building structure regularly needs reinforcement due to damage, specification requirements, and functional changes; carbon fiber reinforced polymer (CFRP) is widely used in structural reinforcement due to its high strength, lightweight, good corrosion resistance and easy construction. The regular square section reinforced concrete frame elements strengthened by CFRP material are taken as the research object. The dynamic response of CFRP to reinforced concrete elements under unequal lateral impact was discussed. This technical paper demonstrates that the test elements are subject to the bending failure mode, and the impact point and the near impact point support are severely damaged areas; the transversely wrapped elements are more abruptly broken, and the longitudinal wrapping elements and the number of wrapping layers can effectively reduce the level of damage. Analysis of the impact, deflection, and strain time history curves obtained in the test show that the wrapping mode and the number of layers have less influence on the impact force peak; the longitudinally wrapped elements and the plateau segment take longer. Dynamic equilibrium principle equation was proposed based on the experimental results. The horizontal partition plateau segment fluctuates greatly; the number of vertical wrap layers increases the plateau value. The larger the number of layers, the smaller the deflection caused by the impact. The longitudinal wrapping can effectively transmit the force.

11.
Mol Genet Genomic Med ; 9(7): e1696, 2021 07.
Article in English | MEDLINE | ID: mdl-33960744

ABSTRACT

INTRODUCTION: Patients with a homozygous ß0 -thalassemia mutation usually have a transfusion-dependent ß-thalassemia major phenotype. However, some ß-thalassemia patients present with a relatively mild and even normal phenotype and always have a high level of Hb F induced by genetic modifiers. METHODS: In this study, we identified a homozygous ß0 -thalassemia mutation (HBB: c.126_129delCTTT) in a 36-year-old pregnant woman. She had not presented any clinical symptoms of ß-thalassemia since birth. To investigate her unexpected mild phenotype, known genetic modifiers that ameliorate the severity of ß-thalassemia were analysed. Besides, we described the haematological changes during pregnancy. RESULTS: Two genetic modifiers (a heterozygous KLF1: c.519_525dup mutation; and two homozygous HBS1L-MYB locus SNP variants: rs7776054 and rs9399137) were identified. However, she showed a gradually decreased level of Hb during pregnancy, and serious transfusion complication of hyperhaemolysis was induced and complicated the pregnancy. CONCLUSION: This report is in accordance with previous findings that genetic modifiers can ameliorate the clinical severity of ß-thalassemia, even without obvious clinical symptoms in a prolonged steady state. However, the steady state can be disrupted during pregnancy. In addition, raising awareness of hyperhaemolysis among clinicians treating patients with thalassemia is necessary.


Subject(s)
Genes, Modifier , beta-Globins/genetics , beta-Thalassemia/genetics , Adult , Female , GTP-Binding Proteins/genetics , Hemolysis , Homozygote , Humans , Kruppel-Like Transcription Factors/genetics , Phenotype , Pregnancy , Proto-Oncogene Proteins c-myb/genetics , beta-Thalassemia/blood , beta-Thalassemia/pathology
12.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-921991

ABSTRACT

Fetal cell free DNA (cfDNA) in maternal blood circulation mainly originates from placental trophoblasts which have dual characteristics of apoptotic cells and the embryo, and can be affected by maternal factors. Pregnancy-related diseases including preeclampsia, gestational diabetes mellitus, preeclampsia, macrosomia and fetal growth restriction can seriously affect maternal health and pregnancy outcome. Early prediction and timely intervention are important means to reduce the risk. Fetal cfDNA and prediction of pregnancy-related diseases have become a hot topicfor current research. This paper reviews the latest progress made in the field.


Subject(s)
Female , Humans , Pregnancy , Cell-Free Nucleic Acids/genetics , Fetus , Placenta , Pregnancy Complications , Pregnancy Outcome
13.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-879524

ABSTRACT

OBJECTIVE@#To explore the genotype-phenotype correlation of a case with Sifrim-Hitz-Weiss syndrome (SIHIWES) caused by a novel CHD4 gene variant.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Whole-exome sequencing (WES) was carried out for the patient.Suspected variant was verified by Sanger sequencing.@*RESULTS@#The proband, a 2-year-old Chinese girl, presented with global developmental delay, intellectual disability, distinctive facial features and multiple congenital anomalies. Her prenatal manifestations included increased nuchal thickness, cranial and facial anomalies, and decreased fetal movement. WES has identified a novel variant in the CHD4 gene, namely NM_001273:c.2989C>G (p.Leu997Val) (GRCh37/hg19).Comparison of her phenotype with previously reported SIHIWES cases suggested that our patient's prenatal presentations were unreported before, with novel features including funduscopic anomaly, facial dysmorphisms such as asymmetrical ears, drooping eyelid, long philtrum and downturned mouth.@*CONCLUSION@#Above findings have expanded the mutational spectrum of the CHD4 gene and revealed novel phenotypes in Chinese patients with SIHIWES.


Subject(s)
Child, Preschool , Female , Humans , Pregnancy , China , Congenital Abnormalities/genetics , Genetic Association Studies , Genetic Testing , Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics , Phenotype , Syndrome , Exome Sequencing
14.
Chinese Journal of School Health ; (12): 367-370, 2021.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-875697

ABSTRACT

Objective@#To identify the lifestyle pattern of adolescents in Guangzhou and to provide a scientific basis for targeted and individualized interventions for adolescents with different lifestyle pattern.@*Methods@#A survey was conducted by questionnaire among 12 540 students from 27 middle schools in the urban area of Guangzhou using a convenient sampling method. The latent class model (LCM) was used to identify lifestyle patterns of adolescents, and further analyses were conducted to compare differences in dietary habits and willingness to exercise among the different classes.@*Results@#Three lifestyle patterns were identified based on the latent class model: "high sweet snacks/excessive screen time, sleep and exercise deficiency group", 3 797 people, accounting for 30.3%; "low nutrition diet/severe sleep and exercise deficiency group", 2 745 people, accounting for 21.9%; "general diet/sleep and exercise deficiency group", 5 998 people, accounting for 47.8%. Adolescents of different classes had different perceptions of their eating habits and different degrees of willingness to participate in physical exercise, these differences were statistically significant(χ 2=671.54, Z=153.16, P<0.05).@*Conclusion@#The results of the latent class model showed that the three classes of adolescents had their own unique characteristics. It is necessary to inform them of their needs, provide guidance and implement targeted interventions according to the unique characteristics of the different lifestyle patterns in empirical work.

15.
Journal of Chinese Physician ; (12): 1269-1274, 2021.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-909694

ABSTRACT

Parkinson′s disease (PD) is a neurodegenerative disease commonly found in middle-aged and elderly people. It is characterized by resting tremor, bradykinesia, myotonia, and abnormal posture gait. The main pathological changes were the loss of dopaminergic neurons in the substantia nigra and the formation of Lewy bodies in the cytoplasm of the residual neurons. The main component of the Lewy bodies was α-synuclein. And why it causes the degeneration of dopaminergic neurons in the substantia nigra is not known. At present, most studies on Parkinson′s disease focus on the pathogenesis of the disease. More and more evidence shows that respiratory chain injury is a key feature of sporadic PD patients, and the proteins encoded by PD-related genes are related to the disorder of mitochondrial function. We believe that the important mechanism of the disease is impaired mitochondrial function due to environmental and (or) genetic inheritance. This article highlights new advances in mitochondrial dysfunction in Parkinson′s pathogenesis, including mitochondria and cell-mediated immunity, endoplasmic reticulum (ER)-mitochondrial axis, sirtuin-mediated mitochondrial stress response, and the role of microRNA in the etiology of PD. A deeper understanding of these mechanisms may provide inspiration for the development of new targeted therapies.

16.
Acta Pharmaceutica Sinica B ; (6): 544-559, 2021.
Article in English | WPRIM (Western Pacific) | ID: wpr-881153

ABSTRACT

Multi-modal therapeutics are emerging for simultaneous diagnosis and treatment of cancer. Polymeric carriers are often employed for loading multiple drugs due to their versatility and controlled release of these drugs in response to a tumor specific microenvironment. A theranostic nanomedicine was designed and prepared by complexing a small gadolinium chelate, conjugating a chemotherapeutic drug PTX through a cathepsin B-responsive linker and covalently bonding a fluorescent probe pheophorbide a (Ppa) with a branched glycopolymer. The branched prodrug-based nanosystem was degradable in the tumor microenvironment with overexpressed cathepsin B, and PTX was simultaneously released to exert its therapeutic effect. The theranostic nanomedicine, branched glycopolymer-PTX-DOTA-Gd, had an extended circulation time, enhanced accumulation in tumors, and excellent biocompatibility with significantly reduced gadolinium ion (Gd

17.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-877097

ABSTRACT

Objective To analyze the awareness rate and treatment and control rate of hypertension as well as the related influencing factors among residents aged 35-75 years in Chongqing, and to provide a reference for comprehensive prevention and control of hypertension. Methods Residents between the ages of 35 and 75 years old were recruited from 8 sites of China Patient-centered Evaluative Assessment of Cardiac Events in Chongqing. All participants were interviewed with structured questionnaires, and physical examination, glucose test and lipid test were performed. The data were analyzed by SPSS 25.0. The differences in the rates of awareness, treatment and control of hypertension of different populations were compared by chi-square test. The related factors influencing the rates of awareness, treatment and control of hypertension were identified by step backward bivariate multivariate logistic regression model. Results A total of 101 036 cases were recruited into this study. The prevalence rates of dyslipidemia, hypertension and diabetes were 31.48%, 40.80% and 17.16%, respectively. The age standardized prevalence rates of dyslipidemia, hypertension and diabetes were 30.81%, 33.91% and 14.35%, respectively. The rates of awareness, treatment and control of hypertension were 45.65%, 36.03% and 11.60%, respectively. The result of multivariate logistic regression analysis indicated that factors including age, household registration, occupation, alcohol use, smoking status, body weight, central obesity, diabetes, and dyslipidemia were related to the awareness rate of hypertension. Factors including age, household registration, race, household income, alcohol use, body weight, central obesity, diabetes, and dyslipidemia were related to the treatment rate of hypertension. Factors including age, household registration, household income, alcohol use, central obesity and diabetes were related to the rate of blood pressure control. Conclusion The prevalence of hypertension was high in Chongqing, but the rate of awareness, treatment and control of hypertension was low. It is suggested that comprehensive measures should be implemented to raise the rate of awareness, treatment and control of hypertension for the prevention and control of hypertension.

18.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-876857

ABSTRACT

Objective To study the effect of SLCO1B1 521 T>C and APOE gene polymorphisms on the clinical efficacy and safety of atorvastatin in ischemic stroke patients with dyslipidemia. Methods 210 cases of ischemic stroke with dyslipidemia were enrolled from April 2018 to December 2018 to determine SLCO1B1 521 T>C and APOE gene polymorphisms. Patients received atorvastatin 20 mg/d orally. TC, TG, HDL-C, LDL-C levels were measured to evaluate the efficacy 3 months pre-and post- treatment. TBil, ALT, AST, CK levels were assayed with following up adverse reactions to evaluate safety. Results SLCO1B1 521 T>C genotype distribution was TT79.05%, TC19.05%, CC1.90%. E2, E3, E4 allele frequencies of APOE genes were 14.28%, 67.62%, 18.10%. Each genotype conforms to the law of Hardy-Weinberg balance. After three months of medication, there were significant differences in TC, TG, LDL-C, HDL-C changes in patients with different APOE genotypes. No obvious abnormality was found in safety index. The incidence of myalgia in SLCO1B1521 T>C mutant group was significantly higher than that in the wild group (P<0.01). Conclusion Lipid regulation of atorvastatin was affected by APOE gene polymorphism. SLCO1B1521 T>C may be associated with myalgia, the adverse reaction of atorvastatin. The detection of SLCO1B1 and APOE genotyping is helpful for individualized treatment of blood lipids and provides basis for rational use of statins in patients for drug therapy management.

19.
Front Genet ; 11: 565341, 2020.
Article in English | MEDLINE | ID: mdl-33324446

ABSTRACT

Glioblastoma is the most lethal malignant primary brain tumor; nevertheless, there remains a lack of accurate prognostic markers and drug targets. In this study, we analyzed 117 primary glioblastoma patients' data that contained SNP, DNA copy, DNA methylation, mRNA expression, and clinical information. After the quality of control examination, we conducted the single nucleotide polymorphism (SNP) analysis, copy number variation (CNV) analysis, and infiltrated immune cells estimate. And moreover, by using the cluster of cluster analysis (CoCA) methods, we finally divided these GBM patients into two novel subtypes, HX-1 (Cluster 1) and HX-2 (Cluster 2), which could be co-characterized by 3 methylation variable positions [cg16957313(DUSP1), cg17783509(PHOX2B), cg23432345(HOXA7)] and 15 (PCDH1, CYP27B1, LPIN3, GPR32, BCL6, OR4Q3, MAGI3, SKIV2L, PCSK5, AKAP12, UBE3B, MAP4, TP53BP1, F5, RHOBTB1) gene mutations pattern. Compared to HX-1 subtype, the HX-2 subtype was identified with higher gene co-occurring events, tumor mutation burden (TBM), and poor median overall survival [231.5 days (HX-2) vs. 445 days (HX-1), P-value = 0.00053]. We believe that HX-1 and HX-2 subtypes may make sense as the potential prognostic biomarkers for patients with glioblastoma.

20.
J Neurosurg Sci ; 64(5): 456-463, 2020 Oct.
Article in English | MEDLINE | ID: mdl-28497669

ABSTRACT

BACKGROUND: Epilepsy, which is the most common symptom accompanying gliomas, was reported as an independent favorable prognosis factor for glioma patients. However, the correlation between glioma location and epilepsy prognosis, genesis and genetic phenotypes of the glioma associated seizure (GAS) patients is far from clear, the purpose of the current study was to provide probabilistic radiographic atlases reflecting seizure susceptible regions, relationship between tumor associated biomarkers and seizure initiation and poor epilepsy prognosis areas. METHODS: Preoperative MRIs were collected from 119 newly diagnosed patients with histologically confirmed gliomas. These samples were analyzed for seizure status and tumor genetic makers (TP53 mutations, MMP-9.PTEN, MGMT, EGFR and IDH1) using a statistical voxel-based lesion-symptom mapping (VLSM) method. RESULTS: We found bilaterally that the frontal lobe containing regions were associated with GAS for low grades gliomas, moreover lesions with the PTEN mutation and IDH1 mutation and seizure susceptible regions were located close together and partially overlapped, Patients with preoperative tumor involving the right frontal lobe may have good seizure control; however, for the glioma-infiltrated regions in front of the precentral regions in the left hemisphere, the epilepsy prognosis is poor. CONCLUSIONS: The current results of seizure associated molecules and specific regions on structural MRI could be used in preoperative surgical planning, seizure prognosis predictions and anti-epilepsy drug usage.


Subject(s)
Brain Neoplasms , Epilepsy , Glioma , Brain Mapping , Humans , Magnetic Resonance Imaging , Mutation , Seizures
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