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find Keyword "表型" 55 results
  • A STUDY OF PHENOTYPIC CHANGE AND PROLIFERATION OF FIBROBLASTS IN INFLAMMATORY STRICTURED BILE DUCT WALL

    Objective To investigate the phenotypic change and proliferation of fibroblasts in human inflammatory strictured bile duct wall. Methods We observed the density and ultrastructure of fibroblasts, and the histologic structure in human normal bile duct wall and inflammatory strictured bile duct wall by light and electron microscope.Results The results showed that fibroblasts were the main source of extracellular matrix production in bile duct wall. The phenotype of fibroblasts in inflammatory strictured bile duct wall changed obviously, quiescent fibroblasts were activated and transformed to myofibroblasts, with massive proliferation. Conclusion These data suggest that massive proliferation of activated fibroblasts and myofibroblasts is the main source of extracellular matrix overproduction which results in inflammatory bile duct stricture.

    Release date:2016-09-08 01:59 Export PDF Favorites Scan
  • Phenotyping of Chronic Obstructive Pulmonary Disease by Using Cluster Analysis

    Objective To investigate the phenotyping of COPD by cluster analysis and evaluate the value of this method.Methods 168 COPD patients were enrolled from Beijing Tongren Hospital. Demographic and clinical data, such as, sex, age, body mass index ( BMI) , smoking index, course of disease,exacerbation rate, and comorbidities were collected. Pulmonary function test, emphysema scoring by HRCT,dyspnea by MMRC score, COPD assessment test ( CAT) score, six-minute walk test were performed for each patient during the stable stage. Cluster analysis was conducted using SPSS 13. 0. Results According to the GOLD criteria,5, 75, 75, and 13 patients were classified into GOLD stage 1, 2, 3, and 4, respectively. There was no difference among different stages in sex distribution, BMI, smoking index, hypertension, and cerebral infarction incidence( P gt; 0. 05) , but the differences in age, disease course, dyspnea score, six-minute walk distance, BODE score, CAT score, coronary heart disease, exacerbation rate, and HRCT emphysema visual score were significant( P lt;0. 05) . By cluster analysis,168 patients were finally classified into three groups:younger/mild, older/ severe, and older/moderate. The patients with the same GOLD stage appeared indifferent clusters and the patients belonging to different GOLD stages could be in the same cluster. There were significant differences among three groups in age, BMI, exacerbation rate, dyspnea score, CAT score, and comorbidities. The result showed that HRCT emphysema visual score was also an important index todifferentiate clusters, suggesting that emphysema was an important phenotype of COPD. Conclusions Cluster analysis can classify homogeneous subjects into the same cluster, and heterogeneous subjects into different clusters. The results suggest that COPD phenotyping by cluster analysis is clinically useful and significant.

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  • EFFECT OF PILOSE ANTLER POLYPEPTIDES ON THE APOPTOSIS OF RABBIT MARROW MESENCHYMAL STEM CELLS DIFFERENTIATED INTO CHONDROGENIC PHENOTYPE IN VITRO

    Objective To observe the effect of pilose antler polypeptides(PAP)on the apoptosis of rabbit marrow mesenchymal stem cells (MSCs) differentiated into chondrogenic phenotype by interleukin 1β (IL-1β) so as to optimize the seeding cells in cartilage tissue engineering. Methods The MSCs were separated from the nucleated cells fraction of autologus bone marrow by density gradient centrifuge and cultured in vitro. The MSCs were induced into chondrogenic phenotype by transforming growth factor β1(TGF-β1) and basic fibroblast growth factor(bFGF). According to different medias, the MSCs were randomly divided into four groups: group A as black control group, group B(100 ng IL-1β),group C(10 μg/ml PAP+100 ng IL-1β) and group D(100 ng/ml TGF-β1 +100 ng IL-1β). The samples were harvested and observed by morphology, flow cytometry analysis, RT-PCR and ELISA at 24, 48 and 72 hours. Results The intranuclear chromatin agglutinated into lump and located under nulear membranes which changed into irregular shapeat 24 hours. The intranuclear chromatin agglutinated intensifily at 48 hours. Then the nucear fragments agglutinated into apoptosic corpuscles at 72 hours in group B. The structure change of cells in groups C and D was later than that in group B, and the number of cells changed shape was fewer than that in group B. The structure change of cells in group A was not significant. The apoptosic rate of cells, the mRNA expression of Caspase-3 and the enzymatic activity of Caspase-3 gradually increased in group B, and there were significant differences compared with groups A,C and D(Plt;0.01). Conclusion Caspase-3 is involved in aoptosis of the MSCs differentiated into chondrogenic phenotype cultured in vitro. PAP could prevent from or reverse apoptosis of these MSCs by decreasing the expression of Caspase-3 and inhibiting the activity of Caspase-3.

    Release date:2016-09-01 09:25 Export PDF Favorites Scan
  • Genotype-phenotype analysis of COL2A1 and COL11A1 de novo mutations leading to Stickler syndrome types 1 and 2

    ObjectiveTo observe and analyze the clinical phenotype and genetic characteristics of COL2A1 and COL11A1 de novo mutation (DNM) related Stickler syndrome type Ⅰ and Ⅱ patients. MethodsA family-based cohort study. From December 2023 to November 2024, 4 patients (all probands) with Stickler syndrome diagnosed by clinical and genetic testing in Department of Ophthalmology of People's Hospital of Ningxia Hui Autonomous Region and their parents (8 cases) were included in the study. The patients came from 4 unrelated families. A detailed medical history was taken, and the patients underwent best-corrected visual acuity (BCVA), refraction, and fundus color photography examinations. Systemic examinations included the oral and facial regions, skeletal, joints, and hearing. Peripheral venous blood samples were collected from the patients and their parents, and genomic DNA was extracted. Whole-exome sequencing was used to screen for pathogenic genes and their loci, which were then validated by Sanger sequencing and combined with segregation analysis in the families to identify candidate gene mutation sites. The candidate variants were assessed for pathogenicity according to the American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for the classification of genetic variants. Additionally, cross-species conservation analysis was performed to determine the evolutionary conservation of wild-type amino acids, and protein three-dimensional modeling techniques were used to characterize the spatial conformational changes of the variant proteins and the alterations in their local hydrogen bond networks. ResultsAmong the 4 patients, there were 2 males and 2 females; their ages ranged from 3 to 12 years. There were 2 cases of Stickler syndrome type Ⅰ (proband of families 1 and 2) and 2 cases of type Ⅱ (proband of families 3 and 4). The diopters ranged from −8.00 to−18.00 D. BCVA ranged from no light perception to 0.6-. There were 2 cases each of vitreous membrane-like and “bead-like” opacity. Three cases showed peripapillary atrophy arcs and leopard pattern changes in the retina; one case had bilateral retinal detachment with a large macular hole in the left eye, which had previously been treated with vitrectomy surgery. One case had bilateral sensorineural hearing loss. There were 3 cases of simple micrognathia; one case had a flat nasal bridge, short nose, midface depression, and micrognathia. Two cases had excessive elbow joint extension. The phenotypes of the parents of the 4 patients were normal. Genetic testing results revealed that the probands of families 1 and 2 carried COL2A1 gene c.85+1G>C (M1) splice site variant and c.3950_3951insA (p.M1317Ifs*48) (M2) frameshift variant, respectively; the probands of families 3 and 4 carried COL11A1 gene (NM_001854.4) c.2549 G>T (p.G850V) (M3) missense variant and c.3816+6T>C (M4) splice site variant, respectively. The parents did not carry the related gene variants. Among them, M2, M3, and M4 are newly reported DNM. According to the ACMG guidelines, they were all considered likely pathogenic. The cross-species conservation analysis results showed that the wild-type amino acid of the COL11A1 gene M3 missense variant was highly conserved across multiple different species. Protein local structure modeling analysis revealed that the COL2A1 gene M2 frameshift variant and the COL11A1 gene M3 missense variant significantly altered the tertiary structure conformation of the protein, leading to abnormal spatial arrangement and hydrogen bond network in the key functional domains ConclusionThe COL2A1 gene M1 splice site variant, M2 frameshift variant, and the COL11A1 gene M3 missense variant, M4 splice site variant are respectively the potential pathogenic genes for families 1, 2, and families 3, 4; leading to the onset of Stickler syndrome type Ⅰ in families 1 and 2, and type Ⅱ in families 3 and 4.

    Release date:2025-03-17 03:07 Export PDF Favorites Scan
  • CHONDROGENIC PHENOTYPE DIFFERENTIATION OF BONE MARROW MESENCHYMAL STEM CELLS INDUCED BY BONE MORPHOGENETIC PROTEIN 2 UNDER HYPOXIC MICROENVIRONMENT IN VITRO

    Objective To investigate the role of bone morphogenetic protein 2 (BMP-2) combined with hypoxic microenvironment in chondrogenic phenotype differentiation of bone marrow mesenchymal stem cells (BMSCs) of rat in vitro. Methods BMSCs were harvested from 4-week-old female Sprague Dawley rats. BMSCs at passage 2 were divided into 4 groups according different culture conditions: normoxia control group (group A), normoxia and BMP-2 group (group B), hypoxia control group (3% oxygen, group C), and hypoxia and BMP-2 group (group D). Then the cellular morphology was observed under inverted phase contrast microscope. Alcian blue immunohistochemical staining was used to detect the glycosaminoglycans (GAG), Western blot to detect collagen type II and hypoxia-inducible factor 1α (HIF-1α), and RT-PCRto detect the expressions of chondrogenic related genes, osteogenic related genes, and hypoxia related genes. Results At 21 days after induction of BMP-2 and hypoxia (group D), BMSCs became round, cell density was significantly reduced, and lacuna-l ike cells were wrapped in cell matrix, while the changes were not observed in groups A, B, and C. Alcian blue staining in group D was significantly bluer than that in other groups, and staining became darker with induction time, and the cells were stained into pieces of deeply-stained blue at 21 days. Light staining was observed in the other groups at each time point. The expression level of collagen type II protein in group D was significantly higher than those in other groups (P lt; 0.05). HIF-1α protein expression levels of groups C and D were significantly higher than those of groups A and B (P lt; 0.05). The expressions of collagen II α1 (COL2 α1) and aggrecan mRNA (chondrogenic related genes) were highest in group D, while the expressions of COL1 α1, alkaline phosphatase, and runt-related transcri ption factor 2 mRNA (osteogenic related genes) were the highest in group B (P lt; 0.05). Compared with groups A and B, HIF-1α (hypoxic related genes) in groups C and D significantly increased (P lt; 0.05). Conclusion BMP-2 combined with hypoxia can induce differentiation of BMSCs into the chondrogenic phenotype, and inhibit osteoblast phenotype differentiation. HIF-1α is an important signaling molecule which is involved in the possible mechanism to promote chondrogenic differentiation process.

    Release date:2016-08-31 04:23 Export PDF Favorites Scan
  • The clinical phenotype of acute exacerbation of chronic obstructive pulmonary disease by cluster analysis

    ObjectiveTo explore the clinical phenotype of patients with acute exacerbation of chronic obstructive pulmonary disease (COPD) by cluster analysis and provide a basis for individualized treatment.MethodsA total of 515 patients with acute exacerbation of COPD admitted to this department from January 2014 to December 2016 were enrolled. The age, duration, smoking index, number of hospitalizations in the past 1 year, hospitalization days, treatment costs and other information were collected for cluster analysis.ResultsThe patients were divided into three categories of phenotype: " mild-glucocorticoid resistance-antibiotic dependent”," mild-glucocorticoid sensitive”, and " serious complication”. The patients with the first two phenotypes had a milder condition and lower hospitalization costs. There were differences in the time and cumulative dose of glucocorticoids in different pathways, antibiotic use time and usage rate. The third phenotype was the most serious, with the highest cost of hospitalization, and may merge or co-exist with other diseases such as cardiovascular disease and digestive tract disease.ConclusionCluster analysis may identify different phenotypes of acute exacerbation of COPD to provide a reference for clinical individualized treatment.

    Release date:2019-07-19 02:21 Export PDF Favorites Scan
  • Clinical features and genetic study of three patients with leber congenital amaurosis

    Objective To investigate the genotype and phenotype in patients with leber congenital amaurosis (LCA), and offer accurate genetic counseling and prenatal diagnosis for those families. Methods Three LCA patients and their parents were recruited for this study and received detailed collection of medical history and family history from March to August 2016. The three patients received fundus fluorescein angiography examination and their parents received slit-lamp microscope and indirect ophthalmoscopy examinations. DNA was extracted from the patients and their family members. Whole-exome sequencing method was used for genetic diagnosis and typing of the three LCA patients and their parents. Results The three patients with different clinical features had a definite clinical diagnosis of LCA. Patient 1 showed pale disc, attenuated vessels aroud the optic disc and the salt-and-pepper appearance of the retina, had the homozygous c.744.745insT (p.249, L>Ffs4) mutation inSPATA7. Patient 2 showed optic disc pallor and attenuated retinal vessels, had the heterozygous c.535G>A, p.A179T mutation inWFS1. Patient 3 showed pale disc, atrophic macular and retinal and choroidal degeneration, had the heterozygous mutation in CRB1, RPGRIP1, SPATA7. Conclusion LCA has characteristics of genetic heterogeneity and clinical and phenotypic diversity.

    Release date:2018-11-22 04:28 Export PDF Favorites Scan
  • IN VITRO EXPERIMENTAL STUDY ON INFLUENCES OF FINAL DEGRADATION PRODUCTS OF POLYACTIC ACID ON PROLIFERATION AND OSTEOBLASTIC PHENOTYPE OF OSTEOBLAST-LIKE CELLS

    ObjectiveTo investigate the influences of lactic acid (LA), the final degradation product of polylactic acid (PLA) on the prol iferation and osteoblastic phenotype of osteoblast-l ike cells so as to provide theoretical basis for bone tissue engineering. MethodsRos17/2.8 osteoblast-l ike cells were harvested and divided into 3 groups. In groups A and B, the cells were cultured with the medium containing 4, 8, 16, 22, and 27 mmol/L L-LA and D, L-LA, respectively. In group C, the cells were cultured with normal medium (pH7.4). The cell prol iferation was determined with MTT method after 1, 3, and 5 days. The relative growth ratio (RGR) was calculated, and the cytotoxicity was evaluated according to national standard of China. In addition, the alkal ine phosphatase (ALP) activity of cells cultured with medium containing 4 mmol/L L-LA (group A), 4 mmol/ L D, L-LA (group B), and normal medium (group C) after 1 and 5 days were detected with ALP kits, and the relative ALP ratio (RAR) was calculated; after 21 days, the calcium nodules were tested with von Kossa staining method, and were quantitatively analyzed. ResultsWhen LA concentration was 4 mmol/L, the mean RGR of both groups A and B were all above 80%, and the cytotoxic grades were grade 0 or 1, which meant non-cytotoxicity. When LA concentration was 8 mmol/L and 16 mmol/ L, groups A and B showed cytotoxicity after 5 days and 3 days, respectively. When LA concentration was above 22 mmol/L, cell prol iferations of groups A and B were inhibited evidently after 1-day culture. At each LA concentration, RGR of group A was significantly higher than that of group B at the same culture time (P<0.05) except those at 4 mmol/L after 1-day and 3-day culture. After 1 day, the RAR of group A was significantly higher than that of group B on 1 day (144.1%±3.2% vs. 115.2%±9.8%, P<0.05) and on 5 days (129.6%±9.8% vs. 78.2%±6.9%, P<0.05). The results of von Kossa staining showed that the black gobbets in group A were obviously more than those of groups B and C. The staining area of group A (91.2%±8.2%) was significantly higher than that of groups B (50.3%±7.9%) and C (54.2%±8.6%) (P<0.05). ConclusionThe concentration and composition of LA have significant effects on the cell proliferation and osteoblastic phenotype of osteoblast-l ike cells.

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  • 哮喘的临床与炎症表型

    支气管哮喘( 简称哮喘) 作为一种异质性疾病, 其发病机制复杂多样, 病理生理改变和临床表现同样具有多样性。表型( Phenotypes) 是指生物体的可观察特征, 是基因型和环境因素相互作用的结果[ 1] ; 它也是能将生物体分成不同独立类群的一系列特征[ 2] 。近年来, 学者们对哮喘的表现和治疗反应的异质性认识不断增加, 从哮喘的不同角度进行观察并归纳出多种临床和炎症表型。虽然对这些表型尚未达成共识, 但它有助于深入认识哮喘的发病机制, 有助于获得对哮喘进行更有针对性的治疗策略。 目前现有的哮喘的分类主要依据是疾病病因、疾病的控制水平与严重程度[ 3] 。这些分类往往不能很好的反映哮喘的异质性。2009 版的哮喘防治指南( GINA) 首次将“表型”的定义引入, 并提出基于表型的分类有助于指导治疗及判断预后[ 3] 。虽然指南并没有明确作出哮喘表型的分类, 但这足以显示出学界对哮喘表型分类的关注。目前, 对哮喘的表型分类仍无统一的共识, 以不同的方法和分类原则可有不同的分类。

    Release date:2016-08-30 11:53 Export PDF Favorites Scan
  • NPRL3基因突变所致岛叶癫痫二例并文献复习

    Release date:2025-01-11 02:34 Export PDF Favorites Scan
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