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Comprehensive understanding of glioblastoma molecular phenotypes:classification,characteristics,and transition
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作者 Can Xu Pengyu Hou +7 位作者 Xiang Li Menglin Xiao Ziqi Zhang Ziru Li Jianglong Xu Guoming Liu Yanli Tan Chuan Fang 《Cancer Biology & Medicine》 SCIE CAS CSCD 2024年第5期363-381,共19页
Among central nervous system-associated malignancies,glioblastoma(GBM)is the most common and has the highest mortality rate.The high heterogeneity of GBM cell types and the complex tumor microenvironment frequently le... Among central nervous system-associated malignancies,glioblastoma(GBM)is the most common and has the highest mortality rate.The high heterogeneity of GBM cell types and the complex tumor microenvironment frequently lead to tumor recurrence and sudden relapse in patients treated with temozolomide.In precision medicine,research on GBM treatment is increasingly focusing on molecular subtyping to precisely characterize the cellular and molecular heterogeneity,as well as the refractory nature of GBM toward therapy.Deep understanding of the different molecular expression patterns of GBM subtypes is critical.Researchers have recently proposed tetra fractional or tripartite methods for detecting GBM molecular subtypes.The various molecular subtypes of GBM show significant differences in gene expression patterns and biological behaviors.These subtypes also exhibit high plasticity in their regulatory pathways,oncogene expression,tumor microenvironment alterations,and differential responses to standard therapy.Herein,we summarize the current molecular typing scheme of GBM and the major molecular/genetic characteristics of each subtype.Furthermore,we review the mesenchymal transition mechanisms of GBM under various regulators. 展开更多
关键词 GLIOBLASTOMA molecular phenotype CLASSIFICATION CHARACTERISTIC mesenchymal transition
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Identification of clinical subphenotypes of sepsis after laparoscopic surgery
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作者 Jie Yang Bo Zhang +6 位作者 Chaomin Hu Xiaocong Jiang Pengfei Shui Jiajie Huang Yucai Hong Hongying Ni Zhongheng Zhang 《Laparoscopic, Endoscopic and Robotic Surgery》 2024年第1期16-26,共11页
Objective:Some patients exhibit septic symptoms following laparoscopic surgery,leading to a poor prognosis.Effective clinical subphenotyping is critical for guiding tailored therapeutic strategies in these cases.By id... Objective:Some patients exhibit septic symptoms following laparoscopic surgery,leading to a poor prognosis.Effective clinical subphenotyping is critical for guiding tailored therapeutic strategies in these cases.By identifying predisposing factors for postoperative sepsis,clinicians can implement targeted interventions,potentially improving outcomes.This study outlines a workflow for the subphenotype methodology in the context of laparoscopic surgery,along with its practical application.Methods:This study utilized data routinely available in clinical case systems,enhancing the applicability of our findings.The data included vital signs,such as respiratory rate,and laboratory measures,such as blood sodium levels.The process of categorizing clinical routine data involved technical complexities.A correlation heatmap was used to visually depict the relationships between variables.Ordering points were used to identify the clustering structure and combined with Consensus K clustering methods to determine the optimal categorization.Results:Our study highlighted the intricacies of identifying clinical subphenotypes following laparoscopic surgery,and could thus serve as a valuable resource for clinicians and researchers seeking to explore disease heterogeneity in clinical settings.By simplifying complex methodologies,we aimed to bridge the gap between technical expertise and clinical application,fostering an environment where professional medical knowledge is effectively utilized in subphenotyping research.Conclusion:This tutorial could primarily serve as a guide for beginners.A variety of clustering approaches were explored,and each step in the process contributed to a comprehensive understanding of clinical subphenotypes. 展开更多
关键词 Laparoscopic surgery phenotype Precision medicine SEPSIS
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Classification of congenital cataracts based on multidimensional phenotypes and its association with visual outcomes
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作者 Yuan Tan Ying-Shi Zou +8 位作者 Ying-Lin Yu Le-Yi Hu Ting Zhang Hui Chen Ling Jin Duo-Ru Lin Yi-Zhi Liu Hao-Tian Lin Zhen-Zhen Liu 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第3期473-479,共7页
●AIM:To establish a classification for congenital cataracts that can facilitate individualized treatment and help identify individuals with a high likelihood of different visual outcomes.●METHODS:Consecutive patient... ●AIM:To establish a classification for congenital cataracts that can facilitate individualized treatment and help identify individuals with a high likelihood of different visual outcomes.●METHODS:Consecutive patients diagnosed with congenital cataracts and undergoing surgery between January 2005 and November 2021 were recruited.Data on visual outcomes and the phenotypic characteristics of ocular biometry and the anterior and posterior segments were extracted from the patients’medical records.A hierarchical cluster analysis was performed.The main outcome measure was the identification of distinct clusters of eyes with congenital cataracts.●RESULTS:A total of 164 children(299 eyes)were divided into two clusters based on their ocular features.Cluster 1(96 eyes)had a shorter axial length(mean±SD,19.44±1.68 mm),a low prevalence of macular abnormalities(1.04%),and no retinal abnormalities or posterior cataracts.Cluster 2(203 eyes)had a greater axial length(mean±SD,20.42±2.10 mm)and a higher prevalence of macular abnormalities(8.37%),retinal abnormalities(98.52%),and posterior cataracts(4.93%).Compared with the eyes in Cluster 2(57.14%),those in Cluster 1(71.88%)had a 2.2 times higher chance of good best-corrected visual acuity[<0.7 logMAR;OR(95%CI),2.20(1.25–3.81);P=0.006].●CONCLUSION:This retrospective study categorizes congenital cataracts into two distinct clusters,each associated with a different likelihood of visual outcomes.This innovative classification may enable the personalization and prioritization of early interventions for patients who may gain the greatest benefit,thereby making strides toward precision medicine in the field of congenital cataracts. 展开更多
关键词 CLASSIFICATION congenital cataract phenotype visual acuity cluster analysis
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Association between the Different Phenotypes of Polycystic Ovary Syndrome and the Outcome in in Vitro Fertilization at Human Reproductive Center Paul et Chantal Biya-Yaoundé
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作者 Ngono Akam Vanina Ngah Minala +8 位作者 Belinga Etienne Belinga Etienne Mpono Pascale Nyada Serges Onana Y. Kasia Cho Joselyne Kasia Florence Adjessa Abega Kasia Jean Marie 《Open Journal of Obstetrics and Gynecology》 2024年第1期18-28,共11页
Background: In Vitro Fertilization/Intracytoplasmic Sperm Injection (IVF/ICSI) represents the final step in the management of Polycystic Ovarian Syndrome (PCOS). Our objective was to study the association between PCOS... Background: In Vitro Fertilization/Intracytoplasmic Sperm Injection (IVF/ICSI) represents the final step in the management of Polycystic Ovarian Syndrome (PCOS). Our objective was to study the association between PCOS phenotypes and IVF/ICSI results in women admitted to Gynaecological Endoscopic Surgery and Human Reproductive Teaching Hospital (CHRACERH). Material and Method: We carried out a cohort study with historical-prospective data collection over a period of seven years (January 2016 to March 2023) at Chracerh. PCOS patients were subdivided into 4 subgroups A, B, C and D. Results: We recruited 128 patients including 64 PCOS patients divided into four phenotypes and 64 non-PCOS patients constituting the control group. Phenotype D without hyperandrogenism had used the lowest dose of gonadotropins, i.e. 1939.7 ± 454.3 IU, and had produced a greater quantity of estradiol on the day ovulation was triggered (6529.8 ± 4324.8 ng/ml). The average number of punctured follicles and mature oocytes were higher in the phenotype D group. Ovarian hyperstimulation syndrome (OHSS) occurred mainly in phenotype D (3/35), with an estimated prevalence of 2.3%. The fertilization rate seemed lower in the hyperandrogenic phenotypes A, B, C compared to the group without hyperandrogenism without significant difference (p = 0.461). The biological pregnancy rate and live birth rate were comparable between the different groups. Conclusion: Phenotype D used less dose of gonadotropins. Biological pregnancy and live birth rates were comparable between the different phenotypes. 展开更多
关键词 phenotype Polycystic Ovarian Syndrome IVF/ICSI PROGNOSIS CHRACERH
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Effects of Radix Puerariae, Radix Rehmanniae and Their Compatibility on Blood Glucose and Blood Lipids in Mice
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作者 Yumei ZHANG Yulin ZHAO +3 位作者 Yanmei QIN Jialing WEI Xiang QIN Suoyi HUANG 《Medicinal Plant》 2024年第1期45-47,共3页
[Objectives]To explore the effects of the compatibility of Radix Puerariae and Radix Rehmanniae on blood glucose and blood lipids in diabetic mouses.[Methods]Diabetic mouse model was established.The body weight and fa... [Objectives]To explore the effects of the compatibility of Radix Puerariae and Radix Rehmanniae on blood glucose and blood lipids in diabetic mouses.[Methods]Diabetic mouse model was established.The body weight and fasting blood glucose of mice were measured after 7 and 14 d of administration,and the biochemical indicators of blood lipids(TC,HDL-C,and LDL-C)were detected after 14 d of administration.[Results]Compared with the Radix Puerariae group and Radix Rehmanniae group,the compatibility group(1:2)had the best hypoglycemic effect(P<0.05),and TC and LDL-C in the compatibility group(2:1)significantly decreased(P<0.05),while HDL-C in the compatibility group(1:1)significantly increased(P<0.05).[Conclusions]Radix Puerariae,Radix Rehmanniae and their combination can reduce the blood glucose of diabetic mice.The compatibility group(1:2)had a significant hypoglycemic effect(P<0.05),and LDL-C in the compatibility group(2:1)significantly declined,while HDL-C in the compatibility group(1:1)rose significantly. 展开更多
关键词 Radix Puerariae Radix Rehmanniae Compatibility Hypoglycemic effect Blood lipids
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Study on the interaction between volatile oil components and skin lipids based on molecular docking techniques
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作者 REN Weishuo WULAN Tuya +4 位作者 DAI Xingxing ZHANG Yingying JIA Mingyue FENG Minfang SHI Xinyuan 《Digital Chinese Medicine》 CAS CSCD 2024年第2期148-159,共12页
Objective To analyze the interactions between different structural types of volatile oil compo-nents(VOCs)and skin lipid molecules;and investigate the mechanism of volatile oil in Chi-nese materia medica(VOCMM)as pene... Objective To analyze the interactions between different structural types of volatile oil compo-nents(VOCs)and skin lipid molecules;and investigate the mechanism of volatile oil in Chi-nese materia medica(VOCMM)as penetration enhancers.Methods In this study;210 different structural types of VOCs were selected from the VOCMM penetration enhancer database;and the molecular docking experiments were conducted with three main lipid molecules of skin:ceramide 2(CER2);cholesterol(CHL);and free fatty acid(FFA).Each VOC was docked individually with each lipid molecule.Cluster analysis was used to explore the relationship between the binding energy of VOCs and their molecular struc-tures.Nine specific pathogen-free(SPF)Sprague Dawley(SD)rats were randomly divided in-to Control;Nootkatone;and 3-Butylidenephthalide groups for in vitro percutaneous experi-ments;with three rats in each group.The donor pool solutions were 3%gastrodin;3%gas-trodin+3%nootkatone;and 3%gastrodin+3%3-butylidenephthalide;respectively.The pen-etration enhancing effects of VOCs with higher binding energy were evaluated by comparing the 12-hour cumulative percutaneous absorption of gastrodin(Q12;µg/cm²).Results(i)Most of the VOCs were non-hydrogen bonded to the hydrophobic parts of CHL and FFA;and hydrogen bonded to the head group of CER2.Among them;sesquiterpene ox-ides showed the most pronounced binding affinity to CER2.The VOCs with 2-4 rings(in-cluding carbon rings;benzene rings;and heterocycles)demonstrated stronger binding affini-ty for three skin lipid molecules compared with the VOCs without intramolecular rings(P<0.01).(ii)According to the cluster analysis;most of the VOCs that bond well to CER2 had 2-3 intramolecular rings.The non-oxygenated VOCs were bonded to CER2 in a hydrophobic manner.The oxygenated VOCs were mostly bonded to CER2 by hydrogen bonding.(iii)The results of Franz diffusion cell experiment showed that the Q12 of Control group was 260.60±25.09µg/cm2;and the transdermal absorption of gastrodin was significantly increased in Nootkatone group(Q12=5503.00±1080.00µg/cm²;P<0.01).The transdermal absorption of gastrodin was also increased in 3-Butylidenephthalide group(Q12=495.40±56.98µg/cm²;P>0.05).(iv)The type of oxygen-containing functional groups in VOCs was also an influencing factor of binding affinity to CER2.Conclusion The interactions between different types of VOCs with different structures in the VOCMM and three skin lipid molecules in the stratum corneum were investigated at the molecular level in this paper.This research provided theoretical guidance and data support for the screening of volatile oil-based penetration enhancers;and a simple and rapid method for studying the penetration-enhancing mechanism of volatile oils. 展开更多
关键词 Chinese materia medica Volatile oil Stratum corneum lipids Transdermal penetration-enhancing effects Molecular docking Ceramide 2(CER2) Penetration enhancers
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Causal associations between intermediate very-low-density lipoprotein cholesterol-to-total lipids ratio and peptic ulcer:A bidirectional Mendelian randomization study
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作者 Chun-Mei Lin Qian Meng +3 位作者 Ying-Jun Li Shuang-Xi Zhang Qiong-Xi Luo Zhen-Yu Dai 《World Journal of Clinical Cases》 SCIE 2024年第25期5729-5738,共10页
BACKGROUND Previous epidemiologic investigations have consistently demonstrated a strong association between the ratio of cholesterol to total lipids in medium very-lowdensity lipoprotein(VLDL)and the occurrence of pe... BACKGROUND Previous epidemiologic investigations have consistently demonstrated a strong association between the ratio of cholesterol to total lipids in medium very-lowdensity lipoprotein(VLDL)and the occurrence of peptic ulcers(PU).However,the precise causal relationship between these factors remains ambiguous.Consequently,this study aims to elucidate the potential correlation between the ratio of cholesterol to total lipids in medium VLDL and the incidence of peptic ulcer.AIM To investigate the ratio of cholesterol to total lipids in medium very-low-density lipoprotein(VLDL)association with PU via genetic methods,guiding future clinical research.METHODS Genome-wide association study(GWAS)datasets for the ratio of cholesterol to total lipids in intermediate VLDL and peptic ulcer were retrieved from the IEU OpenGWAS project(https://gwas.mrcieu.ac.uk).For the forward Mendelian randomization(MR)analysis,72 single nucleotide polymorphisms(SNPs)were identified as instrumental variables.These SNPs were selected based on their association with the ratio of cholesterol to total lipids in intermediate VLDL,with peptic ulcer as the outcome variable.Conversely,for the inverse MR analysis,no SNPs were identified with peptic ulcer as the exposure variable and the ratio of cholesterol to total lipids in intermediate VLDL as the outcome.All MR analyses utilized inverse variance weighted(IVW)as the primary analytical method.Additionally,weighted median and MR-Egger methods were employed as supplementary analytical approaches to assess causal effects.Egger regression was used as a supplementary method to evaluate potential directional pleiotropy.Heterogeneity and multiplicity tests were conducted using the leave-one-out method to evaluate result stability and mitigate biases associated with multiple testing.RESULTS The genetically predicted ratio of cholesterol to total lipids in medium VLDL was significantly associated with an elevated risk of peptic ulcer(IVW:OR=2.557,95%CI=1.274-5.132,P=0.008).However,no causal association of peptic ulcer with the ratio of cholesterol to total lipids in medium VLDL was observed in the inverse Mendelian randomization analysis.CONCLUSION In conclusion,our study reveals a significant association between the ratio of cholesterol to total lipids in medium VLDL and an elevated risk of peptic ulcers.However,further validation through laboratory investigations and larger-scale studies is warranted to strengthen the evidence and confirm the causal relationship between these factors. 展开更多
关键词 Ratio of cholesterol to total lipids in medium VLDL Peptic ulcer Mendelian randomization Casual effect Single nucleotide polymorphism
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Analysis of Blood Lipids, Blood Glucose, Blood Uric Acid, and Blood Routine Test Results in Retired Employees of a Unit in the Civil Aviation System
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作者 Sunhang Cao Zhengfeng Liu +3 位作者 Guiyu Cheng Dongmei Zhai Ke Gong Chunshui Huang 《Journal of Clinical and Nursing Research》 2024年第8期67-74,共8页
Objective:To investigate and analyze the annual physical examination results of retired employees from a unit in the civil aviation system,focusing on blood lipids,blood glucose,blood uric acid,and blood routine resul... Objective:To investigate and analyze the annual physical examination results of retired employees from a unit in the civil aviation system,focusing on blood lipids,blood glucose,blood uric acid,and blood routine results.The study aims to provide relevant references for formulating reasonable disease management measures for preventing and controlling hyperlipidemia,hyperuricemia,and other conditions in retired employees.Methods:The examination results of 231 participants were collected and analyzed.The participants were divided into four groups based on age:middle-aged group,young-old group,middle-old group,and old-old group.The blood test results were compared across these groups,and an assessment of atherosclerotic cardiovascular disease(ASCVD)risk levels was completed in conjunction with medical history.Blood test results were also compared by gender.Results:There were no significant statistical differences in blood test results when grouped by age.However,the prevalence of hyperuricemia was higher in males than in females,while the prevalence of hypercholesterolemia was higher in females than in males.The LDL-C target achievement rate was lower in the moderate-and-high-risk group as well as the very high-risk group as defined by ASCVD risk levels.Conclusion:Management of hyperuricemia and hyperlipidemia in retired employees(elderly patients)should be strengthened to reduce the risk of ASCVD events and alleviate the potential medical burden associated with disease progression. 展开更多
关键词 Physical examination Blood routine Blood lipids Blood uric acid Blood glucose Atherosclerotic cardiovascular disease
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SPP-extractor:Automatic phenotype extraction for densely grown soybean plants 被引量:1
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作者 Wan Zhou Yijie Chen +6 位作者 Weihao Li Cong Zhang Yajun Xiong Wei Zhan Lan Huang Jun Wang Lijuan Qiu 《The Crop Journal》 SCIE CSCD 2023年第5期1569-1578,共10页
Automatic collecting of phenotypic information from plants has become a trend in breeding and smart agriculture.Targeting mature soybean plants at the harvesting stage,which are dense and overlapping,we have proposed ... Automatic collecting of phenotypic information from plants has become a trend in breeding and smart agriculture.Targeting mature soybean plants at the harvesting stage,which are dense and overlapping,we have proposed the SPP-extractor(soybean plant phenotype extractor)algorithm to acquire phenotypic traits.First,to address the mutual occultation of pods,we augmented the standard YOLOv5s model for target detection with an additional attention mechanism.The resulting model could accurately identify pods and stems and could count the entire pod set of a plant in a single scan.Second,considering that mature branches are usually bent and covered with pods,we designed a branch recognition and measurement module combining image processing,target detection,semantic segmentation,and heuristic search.Experimental results on real plants showed that SPP-extractor achieved respective R^(2) scores of 0.93–0.99 for four phenotypic traits,based on regression on manual measurements. 展开更多
关键词 Soybean phenotype Branch length Computer vision A*algorithm phenotype acquisition
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LncRNA CACNA1G-AS1 up-regulates FTH1 to inhibit ferroptosis and promote malignant phenotypes in ovarian cancer cells 被引量:1
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作者 YANPING JIN JIANPING QIU +2 位作者 XIUFANG LU YAN MA GUOWEI LI 《Oncology Research》 SCIE 2023年第2期169-179,共11页
Previous study revealed that ferritin heavy chain-1(FTH1)could regulate ferritinophagy and affect intracellular Fe^(+)content in various tumors,while its N6-methyladenosine(m6A)RNA methylation was closely related the ... Previous study revealed that ferritin heavy chain-1(FTH1)could regulate ferritinophagy and affect intracellular Fe^(+)content in various tumors,while its N6-methyladenosine(m6A)RNA methylation was closely related the prognosis of ovarian cancer patients.However,little is known about the role of FTH1 m6A methylation in ovarian cancer(OC)and its possible action mechanisms.In this study we constructed FTH1 m6A methylation regulatory pathway(LncRNA CACNA1G-AS1/IGF2BP1)according to related bioinformatics analysis and research,through clinical sample detections we found that these pathway regulatory factors were significantly up-regulated in ovarian cancer tissues,and their expression levels were closely related to the malignant phenotype of ovarian cancer.In vitro cell experiments showed that LncRNA CACNA1G-AS1 could up-regulate FTH1 expression through IGF2BP1 axis,thus inhibited ferroptosis by regulating ferritinophagy,and finally promoted proliferation and migration in ovarian cancer cells.Tumor-bearing mice studies showed that the knock-down of LncRNA CACNA1G-AS1 could inhibited the tumorigenesis of ovarian cancer cells in vivo condition.Our results demonstrated that LncRNA CACNA1G-AS1 could promote the malignant phenotypes of ovarian cancer cells through FTH1-IGF2BP1 regulated ferroptosis. 展开更多
关键词 Ovarian cancer m6A methylation Ferroptosis MITOPHAGY Malignant phenotype
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Altered Levels of Blood Glucose and Serum Lipids in Sudanese Patients with Ovarian Cancer
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作者 Maysoon A. Hassaan Atif H. Khirelsied +1 位作者 Tagelsir M. Ali Ahmed A. Agab-Aldour 《Open Journal of Obstetrics and Gynecology》 CAS 2023年第5期896-906,共11页
Background: The etiology of ovarian cancer is not well-understood;numerous metabolomics profiling, epidemiological, and hospital-based case control studies have associated abnormal levels of blood glucose and serum li... Background: The etiology of ovarian cancer is not well-understood;numerous metabolomics profiling, epidemiological, and hospital-based case control studies have associated abnormal levels of blood glucose and serum lipids with the risk and the prognosis of various types of cancers including ovarian cancer. The association between the risk of the incidence of ovarian cancer and the alterations in the levels of blood glucose and serum lipids is not well defined. Objective: In this study we aimed to compare the levels of blood glucose, triacylglycerols, low-density lipoprotein cholesterol, and high-density lipoprotein cholesterol in patients with different stages of ovarian cancer and healthy controls to determine how they relate to the risk and prognosis of ovarian cancer. Methodology: In a case-control cross sectional study, we enrolled ninety-nine Sudanese women, diagnosed with ovarian cancer but had not received any kind of treatment as the study group, and a control group of forty-one age-matched, apparently healthy women. The patients were classified according to the International Federation of Obstetricians and Gynecologists staging system into two groups: early stages (stage I & II) and late stages (stages III & IV). Blood glucose and serum lipids;triacylglycerols, total cholesterol, low-density lipoprotein cholesterol and high-density lipoprotein cholesterol were determined by enzymatic colorimetric methods using commercially available analytical kits. The IBM SPSS version 20 software was used for statistical analysis. A Mann-Whitney U test was used for comparison of the median concentrations of blood glucose, triacylglycerols, total cholesterol, low-density lipoprotein cholesterol and high-density lipoprotein cholesterol in the study groups. Logistic regression model was used to estimate the relative risk of ovarian cancer in relation to levels of blood glucose and serum lipids. P value of 0.05 was considered significant. Results: Our data indicated significantly higher levels of blood glucose (p < 0.001), triacylglycerols (p = 0.002), and low-density lipoprotein cholesterol (p < 0.001), and lower levels of high-density lipoprotein cholesterol (p = 0.023), in ovarian cancer patients compared to the control subjects. No significant difference was found in the levels of blood glucose or any of the serum lipids between patients in the early stages (stage I & II) and those in late stages (stage III & IV) of ovarian cancer. The logistic regression analysis indicated significant association between the elevated levels of the blood glucose, triacylglycerols and low-density lipoprotein cholesterol and the risk of the ovarian cancer. Conclusion: We conclude that the levels of blood glucose, triacylglycerols, low-density lipoprotein cholesterol and high-density lipoprotein cholesterol differ significantly between ovarian cancer patients and the healthy control subjects. The risk of ovarian cancer was positively associated with the levels of blood glucose, triacylglycerols and low-density lipoprotein cholesterol, and negatively associated with levels of high-density lipoprotein cholesterol. Therefore, determination of blood glucose and serum lipids, particularly, triacylglycerols, low-density lipoprotein cholesterol may be helpful as diagnostic indicators of ovarian cancer (OC). 展开更多
关键词 Blood Glucose CHOLESTEROL Ovarian Cancer Serum lipids TRIACYLGLYCEROL
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What Impact on Phenotype for Patients with Karyotype 46, XX DSD SRY Positive at CHU Dantec in Senegal: About 5 Cases?
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作者 Fatou Diop Gueye Arame Ndiaye +5 位作者 Adji Dieynaba Diallo Mame Venus Gueye Ndiaga Diop Macoura Gadji Oumar Faye Mama Sy Diallo 《Open Journal of Genetics》 2023年第2期83-96,共14页
Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD wher... Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD where most patients are female phenotype with clitoral hypertrophy that can go to complete masculinization especially in the presence of the SRY gene. Objective: The goal of this work is to demonstrate a relationship between the genotype and the phenotype in five patients karyotype 46, XX with the presence of the SRY gene. Methodology: The study involves five patients referred to the laboratory under suspicion of sexual development anomalies. The diagnosis took place through hormonal and echography examinations, a classic cytogenetic study (Barr chromatin and karyotype) and an amplification of the SRY gene located on the Y chromosome. The resulting PCR products were sent for sequencing. Results: Based on the results of clinical and paraclinical tests carried out it was found clitoral hypertrophy, the presence of clitoris penis for some, presence of normal penis for others. In addition, echography revealed a lack of female internal genitalia (P2, P3), and a presence of testicles (P3, P4, P5). Genetic analysis (chromosomal and molecular) showed a karyotype 46, XX SRY (+) for all patients. New mutations were found c.246 T > A, p.82 Asn82Lys and c.171 G > C, p.57 Gln57His. Conclusion: In our study, we were able to correlate each DSD with karyotype 46, XX to a pathology such as 46, XX DSD testicular, 46, XX DSD with clitoral hypertrophy and ovotestis 46, XX. The next step will undoubtedly be the integration of other molecular techniques (genotyping, FISH, CGH or even the CGH array) to further genetic exploration. 展开更多
关键词 46 XX DSD SRY phenotype HYPERTROPHY
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Identification of tolerance to high density and lodging in short petiolate germplasm M657 and the effect of density on yield-related phenotypes of soybean
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作者 GAO Hua-wei YANG Meng-yuan +9 位作者 YAN Long HU Xian-zhong HONG Hui-long ZHANG Xiang SUN Ru-jian WANG Hao-rang WANG Xiao-bo LIU Li-ke ZHANG Shu-zhen QIU Li-juan 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2023年第2期434-446,共13页
Soybean yield has traditionally been increased through high planting density,but investigating plant height and petiole traits to select for compact architecture,lodging resistance,and high yield varieties is an under... Soybean yield has traditionally been increased through high planting density,but investigating plant height and petiole traits to select for compact architecture,lodging resistance,and high yield varieties is an underexplored option for further improving yield.We compared the relationships between yield-related traits,lodging resistance,and petioleassociated phenotypes in the short petiole germplasm M657 with three control accessions during 2017–2018 in four locations in the Huang–Huai region,China.The results showed that M657 exhibited stable and high tolerance to high planting density and resistance to lodging,especially at the highest density(8×105 plants ha–1).The regression analysis indicated that a shorter petiole length was significantly associated with increased lodging resistance.The yield analysis showed that M657 achieved higher yields under higher densities,especially in the northern part of the Huang–Huai region.Among the varieties,there were markedly different responses to intra-and inter-row spacing designs with respect to both lodging and yield that were related to location and density.Lodging was positively correlated with planting density,plant height,petiole length,and number of effective branches,but negatively correlated with stem diameter,seed number per plant,and seed weight per plant.The yield of soybean was increased by appropriately increasing the planting density on the basis of the current soybean varieties in the Huang–Huai region.This study provides a valuable new germplasm resource for the introgression of compact architecture traits that are amenable to providing a high yield in high density planting systems,and it establishes a high-yield model of soybean in the Huang–Huai region. 展开更多
关键词 SOYBEAN short petiole high density and lodging yield-related phenotypes
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Coexistent alcohol-related cirrhosis and chronic pancreatitis have a comparable phenotype to either disease alone:A comparative retrospective analysis
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作者 Michael Lu Yujie Sun +4 位作者 Robert Feldman Melissa Saul Andrew Althouse Gavin Arteel Dhiraj Yadav 《World Journal of Hepatology》 2023年第3期431-440,共10页
BACKGROUND Alcohol use disorder is a prevalent disease in the United States.It is a well-demonstrated cause of recurrent and long-standing liver and pancreatic injury which can lead to alcohol-related liver cirrhosis(... BACKGROUND Alcohol use disorder is a prevalent disease in the United States.It is a well-demonstrated cause of recurrent and long-standing liver and pancreatic injury which can lead to alcohol-related liver cirrhosis(ALC)and chronic pancreatitis(ACP).ALC and ACP are associated with significant healthcare utilization,cost burden,and mortality.The prevalence of coexistent disease(CD)ranges widely in the literature and the intersection between ALC and ACP is inconsistently charac-terized.As such,the clinical profile of coexistent ALC and ACP remains poorly understood.We hypothesized that patients with CD have a worse phenotype when compared to single organ disease.AIM To compare the clinical profile and outcomes of patients with CD from those with ALC or ACP Only.METHODS In this retrospective comparative analysis,we reviewed international classi-fication of disease 9/10 codes and electronic health records of adult patients with verified ALC Only(n=135),ACP Only(n=87),and CD(n=133)who received care at UPMC Presbyterian-Shadyside Hospital.ALC was defined by histology,imaging or clinical evidence of cirrhosis or hepatic decompensation.ACP was defined by imaging findings of pancreatic calcifications,moderate-severe pancreatic duct dilatation,irregularity or atrophy.We compared demographics,pertinent clinical variables,healthcare utilization,and mortality for patients with CD with those who had single organ disease.RESULTS Compared to CD or ACP Only,patients with ALC Only were more likely to be older,Caucasian,have higher body mass index,and Hepatitis B or C infection.CD patients(vs ALC Only)were less likely to have imaging evidence of cirrhosis and portal hypertension despite possessing similar MELD-Na and Child C scores at the most recent contact.CD patients(vs ACP Only)were less likely to have acute or recurrent acute pancreatitis,diabetes mellitus,insulin use,oral pancreatic enzyme therapy,and need for endoscopic therapy or pancreatic surgery.The number of hospitalizations in patients with CD were similar to ACP Only but significantly higher than ALC Only.The overall mortality in patients with CD was similar to ALC Only but trended to be higher than ACP Only(P=0.10).CONCLUSION CD does not have a worse phenotype compared with single organ disease.The dominant phenotype in CD is similar to ALC Only which should be the focus in longitudinal follow-up. 展开更多
关键词 ALCOHOL CIRRHOSIS Chronic pancreatitis OVERLAP phenotype
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Redefying the therapeutic strategies against cardiorenal morbidity and mortality:Patient phenotypes
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作者 Dimitra Bacharaki Ioannis Petrakis Kostas Stylianou 《World Journal of Cardiology》 2023年第3期76-83,共8页
Chronic kidney disease(CKD)patients face an unacceptably high morbidity and mortality,mainly from cardiovascular diseases.Diabetes mellitus,arterial hypertension and dyslipidemia are highly prevalent in CKD patients.E... Chronic kidney disease(CKD)patients face an unacceptably high morbidity and mortality,mainly from cardiovascular diseases.Diabetes mellitus,arterial hypertension and dyslipidemia are highly prevalent in CKD patients.Established therapeutic protocols for the treatment of diabetes mellitus,arterial hypertension,and dyslipidemia are not as effective in CKD patients as in the general population.The role of non-traditional risk factors(RF)has gained interest in the last decades.These entail the deranged clinical spectrum of secondary hyperparathyroidism involving vascular and valvular calcification,under the term“CKDmineral and bone disorder”(CKD-MBD),uremia per se,inflammation and oxidative stress.Each one of these non-traditional RF have been addressed in various study designs,but the results do not exhibit any applied clinical benefit for CKD-patients.The“crusade”against cardiorenal morbidity and mortality in CKD-patients is in some instances,derailed.We propose a therapeutic paradigm advancing from isolated treatment targets,as practiced today,to precision medicine involving patient phenotypes with distinct underlying pathophysiology.In this regard we propose two steps,based on current stratification management of corona virus disease-19 and sepsis.First,select patients who are expected to have a high mortality,i.e.,a prognostic enrichment.Second,select patients who are likely to respond to a specific therapy,i.e.,a predictive enrichment. 展开更多
关键词 Cardiorenal MORBIDITY Mortality phenotype Precision medicine Personalized medicine
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The effects of smoking on blood lipids, C-reactive protein, and homocysteine in young patients with ischemic stroke
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作者 Yi Bao Zhixuan Chen +3 位作者 Zhibing Ai Wei Huang Yong Liu Jun Chen 《Journal of Translational Neuroscience》 2023年第2期18-25,共8页
Objective:To investigate clinical significance of the effects of smoking on blood lipids, C-reactive protein,and homocysteine in young ischemic stroke patients.Methods:The clinical data of 423 young stroke patients in... Objective:To investigate clinical significance of the effects of smoking on blood lipids, C-reactive protein,and homocysteine in young ischemic stroke patients.Methods:The clinical data of 423 young stroke patients in the department of neurology at Taihe Hospital in Shiyan City, China were retrospectively analyzed, including age,gender,drinking history,family history,and atrial fibrillation history. Patients were divided into two groups according to whether they smoked,and the blood lipids, C-reactive protein, and homocysteine were compared between groups.Results:The proportion of smokers was 41.83%.The levels of total cholesterol,triglycerides (TG), low density lipoprotein (LDL), and homocysteine were higher in patients who smoked than in those who did not(P < 0.05). High density lipoprotein (HDL) was lower in the smoking group (P < 0.05). C-reactive protein test results were divided into groups according to whether the levels exceeded the normal range or not, and no correlation was found between C-reactive protein levels and smoking(P>0.05). Conclusion:Total cholesterol, TG, LDL, HDL, and homocysteine were significantly different between stroke patients who smoked and those who did not. We therefore suggest that smoking cessation take place as soon as possible and that it be avoided entirely in order to reduce the incidence of atherosclerosis and stroke. 展开更多
关键词 ischemic stroke blood lipids C-reac-tive protein HOMOCYSTEINE SMOKING
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Effects of moxibustion at 46°C on blood lipids and related indicators of thoracic aortic endothelium in a hyperlipidemia rat model
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作者 Gui-Ying Wang Jian-Yun Gao Ruo-Yang Chen 《TMR Non-Drug Therapy》 2023年第2期31-35,共5页
Objective:To observe the effects of moxibustion at different temperatures(38℃,46℃)on blood lipids,endothelial morphology of the thoracic aorta,serum endothelin-1(ET-1),calcitonin gene-related peptide(CGRP),nitric ox... Objective:To observe the effects of moxibustion at different temperatures(38℃,46℃)on blood lipids,endothelial morphology of the thoracic aorta,serum endothelin-1(ET-1),calcitonin gene-related peptide(CGRP),nitric oxide(NO),and endothelial NO synthase(eNOS)in hyperlipidemic rats.Methods:Using the random number table method,60 Sprague Dawley rats were randomly and evenly divided into blank,model,38℃-moxibustion,and 46℃-moxibustion groups.Rats in the 3 experimental groups were fed a high-fat feed to model hyperlipidemia in rats.Rats in the 38℃-moxibustion and 46℃-moxibustion groups were moxibustion on the Shenque and bilateral Zusanli acupoints for 10 minutes each,once every other day for 4 weeks,at temperatures of 38±1℃ and 46±1℃.After that,rat blood samples were collected to detect blood lipids and ET-1,CGRP,eNOS and NO.Take the endotheal tissue of the thoracic aorta to do HE staining.Results:(1)The serum total cholesterol,triglycerides,and low-density lipoprotein cholesterol of rats in the 46℃-moxibustion group were significantly lower than those in the model and 38℃-moxibustion groups.(2)Revealed by hematoxylin and eosin staining,showed necrosis in the local vascular endothelial cells and mild inflammatory cell infiltration in the tunica adventitia of the hyperlipidemic rats.These endothelial morphologies did not improve significantly after moxibustion at 38℃ but did improve at 46℃.(3)Compared with the blank group,serum ET-1 was significantly higher and serum CGRP,NO,eNOS were significantly lower in the model group.Compared with the model and the 38℃-moxibustion groups,serum ET-1 was significantly lower and serum CGRP,NO,eNOS were significantly higher in 46℃-moxibustion groups.Conclusion:Moxibustion at 46℃ effectively regulated blood lipids,improved the morphology of the vascular endothelium,and protected vascular endothelial function. 展开更多
关键词 46℃-moxibustion HYPERLIPIDEMIA blood lipids thoracic aortic endothelium
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Chronic Supplementation with L-Isoleucine Alone or in Combination with Exercise Reduces Hepatic Cholesterol Levels with No Effect on Serum Glucose, Insulin, or Lipids in Rats Fed a High Fructose Diet 被引量:1
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作者 Michael Dellogono Lyra Clark +2 位作者 Cynthia Ferrara Mahdi Garelnabi Thomas A. Wilson 《Food and Nutrition Sciences》 CAS 2023年第5期480-493,共14页
The thought of using branched-chain amino acids (BCAA) in the prevention and treatment of certain disorders is becoming increasingly popular. Individual BCAA use has been associated with improving glucose tolerance an... The thought of using branched-chain amino acids (BCAA) in the prevention and treatment of certain disorders is becoming increasingly popular. Individual BCAA use has been associated with improving glucose tolerance and liver disease. Previous studies have cited improvements in glucose metabolism with a single dose of L-isoleucine (ILE). However, it is still unclear whether chronic consumption of ILE has any direct benefit. The objective of this study was to examine the influence of chronic ILE supplementation alone or in combination with exercise on fasting serum glucose, insulin, lipids, and lipoprotein cholesterol levels;glucose tolerance;and hepatic lipids in rats. Male Sprague-Dawley rats (n = 40) were divided into Control (low fructose diet);High Fructose diet (HF);HF plus 1.5% ILE (HF + ILE);HF plus exercise (HF + EX);and HF plus 1.5% ILE and exercise (HF + ILE + EX). The HF diets consisted of 70% kcalories from fructose. After 6 weeks of treatment, no significant differences were observed between groups for changes in fasting serum glucose, insulin, lipids, or lipoprotein cholesterol levels. However, hepatic total cholesterol was significantly lower in the HF + ILE + EX compared to the Control and HF, while, the HF + ILE had significantly lower hepatic free cholesterol compared to the HF. We also found no differences between groups for serum glucose response following an oral glucose tolerance test. In conclusion, our study shows that ILE supplementation in rats does not influence serum glucose and lipid biomarkers but may have an influence on lipid metabolic pathways within the liver. 展开更多
关键词 ISOLEUCINE Branched-Chain Amino Acids Glucose Tolerance INSULIN CHOLESTEROL lipids
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Mesenchymal stem cell-derived exosomes regulate microglia phenotypes:a promising treatment for acute central nervous system injury 被引量:7
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作者 Yu-Yan Liu Yun Li +8 位作者 Lu Wang Yan Zhao Rui Yuan Meng-Meng Yang Ying Chen Hao Zhang Fei-Hu Zhou Zhi-Rong Qian Hong-Jun Kang 《Neural Regeneration Research》 SCIE CAS CSCD 2023年第8期1657-1665,共9页
There is growing evidence that long-term central nervous system(CNS)inflammation exacerbates secondary deterioration of brain structures and functions and is one of the major determinants of disease outcome and progre... There is growing evidence that long-term central nervous system(CNS)inflammation exacerbates secondary deterioration of brain structures and functions and is one of the major determinants of disease outcome and progression.In acute CNS injury,brain microglia are among the first cells to respond and play a critical role in neural repair and regeneration.However,microglial activation can also impede CNS repair and amplify tissue damage,and phenotypic transformation may be responsible for this dual role.Mesenchymal stem cell(MSC)-derived exosomes(Exos)are promising therapeutic agents for the treatment of acute CNS injuries due to their immunomodulatory and regenerative properties.MSC-Exos are nanoscale membrane vesicles that are actively released by cells and are used clinically as circulating biomarkers for disease diagnosis and prognosis.MSC-Exos can be neuroprotective in several acute CNS models,including for stroke and traumatic brain injury,showing great clinical potential.This review summarized the classification of acute CNS injury disorders and discussed the prominent role of microglial activation in acute CNS inflammation and the specific role of MSC-Exos in regulating pro-inflammatory microglia in neuroinflammatory repair following acute CNS injury.Finally,this review explored the potential mechanisms and factors associated with MSCExos in modulating the phenotypic balance of microglia,focusing on the interplay between CNS inflammation,the brain,and injury aspects,with an emphasis on potential strategies and therapeutic interventions for improving functional recovery from early CNS inflammation caused by acute CNS injury. 展开更多
关键词 acute CNS injury central nervous system inflammation exosome immune regulation mesenchymal stem cell mesenchymal stem cell-derived exosomes(MSC-Exos) microglia activation microglia phenotypic transformation molecular mechanism neuroinflammation
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Paclobutrazol induces the concurrent accumulation of chrysolaminarin and lipids in the diatom Phaeodactylum tricornutum
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作者 Yufeng YANG Yang LU +4 位作者 Jianwei ZHENG Dawei LI Xiang WANG Weidong YANG Hongye LI 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2023年第5期1809-1820,共12页
Paclobutrazol is a plant growth regulator and inhibitor of endogenous gibberellin synthesis.It is a powerful inhibitor of vegetative growth by changing the photosynthetic rate and plant hormone levels,thereby affectin... Paclobutrazol is a plant growth regulator and inhibitor of endogenous gibberellin synthesis.It is a powerful inhibitor of vegetative growth by changing the photosynthetic rate and plant hormone levels,thereby affecting plant growth and development.In this study,the effects of paclobutrazol on the model diatom Phaeodactylum tricornutum were investigated.Results show that 2.5-mg/L and 10-mg/L paclobutrazol significantly inhibited the algal growth by inhibiting chlorophyll synthesis,which affects photosynthesis.The antioxidant system,including catalase(CAT)and glutathione peroxidase(GPx)was severely damaged.Chrysolaminarin content was significantly elevated and doubled up to 127 mg/g dry cell weight(DCW)by 10-mg/L paclobutrazol treatment.In combination with transcriptomic analysis,paclobutrazol was demonstrated to play a regulatory role in the accumulation of chrysolaminarin and neutral lipids. 展开更多
关键词 chrysolaminarin LIPID PACLOBUTRAZOL DIATOM
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