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BACKGROUND: A fetus with increased copy number of chromosome 20 was identified by NIPT. Here we utilize several genetic tests and analyses to illuminate the etiology of such aneuploidy. METHODS: Amniotic fluid cells were extracted from pregnant woman and sent for karyotype and chromosomal microarray analysis (CMA). Trio pedigree analysis was conducted with Chromosome Analysis Suite and uniparental disomy (UPD)-tool software. RESULTS: CMA identified consistent results, which were 2 regions of homozygosity: arr[GRCh37]20p12.2q11.1 (11265096_26266313)hmz and arr[GRCh37]20q11.21q13.2(29510306_54430467)hmz. The trio pedigree analysis discovered that the fetal chromosome 20 was the entire maternal UPD mosaic with isodisomy and heterodisomy. CONCLUSIONS: When a large segment of chromosome is homozygous, appropriate genetic tests are required to find the potential mechanisms for UPD formation.
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Cromossomos Humanos Par 20 , Dissomia Uniparental , Gravidez , Feminino , Humanos , Dissomia Uniparental/genética , Cromossomos Humanos Par 20/genética , Diagnóstico Pré-Natal/métodos , Cariotipagem , FetoRESUMO
BACKGROUND: Epithelial ovarian cancer (EOC) is insensitive to immunotherapy due to its poor immunogenicity; thus, suitable biomarkers need to be identified for better prognostic stratification and individualized treatment. CD47 is a novel immunotherapy target; however, its impact on EOC prognosis is controversial and correlation with genetic features is unclear. The aim of this study was to investigate the prognostic significance of CD47 and its correlations with biological behaviors and genetic features of EOC. METHODS: Immunohistochemistry (IHC) and next-generation sequencing (NGS) were performed to examine expressions of CD47, PD-L1, and genomic mutations in the tissue samples of 75 EOC patients. Various clinicopathologic and genomic features were then evaluated to determine their correlation with CD47 expression. Kaplan-Meier analysis and Cox regression analysis were used to identify independent prognostic factors. Risk score modeling was then established, and the predictive capacity of this model was further confirmed by nomogram analysis. RESULTS: CD47 was mainly expressed in the tumor cell membrane and cytoplasm, and the rate of high CD47 expression was 63.7%. CD47 expression was associated with various clinicopathological factors, including FIGO stage, CA125 and HE4 value, presence of multidisciplinary surgeries, presence and volume of ascites, lymph-node metastasis, Ki-67 index and platinum-resistant, as well as genetic characteristics like BRCA mutation, HRD status, and TP53 mutation in EOC. Patients with high CD47 expression showed worse prognosis than the low-expression group. Cox regression analysis demonstrated that CA125, CD47, and BRCA mutation were independent factors for EOC prognosis. Patients were then categorized into high-risk and low-risk subgroups based on the risk score of the aforementioned independent factors, and the prognosis of the high-risk group was worse than those of the low-risk group. The nomogram showed adequate discrimination with a concordance index of 0.777 (95% CI, 0.732-0.822). The calibration curve showed good consistency. CONCLUSION: CD47 correlated with various malignant biology and genetic characteristics of EOC and may play pivotal and multifaceted roles in the tumor microenvironment of EOC Finally, we constructed a reliable prediction model centered on CD47 and integrated CA125 and BRCA to better guide high-risk population management.
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Neoplasias Epiteliais e Glandulares , Neoplasias Ovarianas , Humanos , Feminino , Carcinoma Epitelial do Ovário/genética , Carcinoma Epitelial do Ovário/patologia , Prognóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Antígeno CD47/genética , Biomarcadores Tumorais/genética , Estimativa de Kaplan-Meier , Neoplasias Epiteliais e Glandulares/genética , Microambiente TumoralRESUMO
PURPOSE: To elucidate the clinicopathological features and prognostic factors of minimal deviation adenocarcinoma (MDA) of the uterine cervix, a clinically rare but highly invasive disease. METHODS: This was a retrospective, observational, real-world study of 43 patients with pathologically confirmed MDA at the Obstetrics and Gynaecology Hospital of Fudan University between November 2010 and November 2021. Baseline clinicopathological data were collected and reviewed. Prognostic factors for progression-free survival (PFS) and overall survival (OS) were investigated by univariate and multivariate Cox proportional hazards analyses. RESULTS: Chief complaints included irregular vaginal discharge and/or bleeding (74.4%). Preoperative diagnosis was difficult, the detection rate was low (36.8%), all cases showed endophytic lesions, and 88.4% had deep stromal invasion, with biologically aggressive characteristics. The ovarian metastasis rate was high (16.3%, 7/43). The median maximum diameter of the tumour (MDOT) was 4.3 cm (range, 0.5-8.0 cm). MDOT was significantly associated with OS (P = 0.009), and the optimal cut-off value to define bulky MDA was 5.5 cm (P < 0.0001, χ= 21.161) using X-tile software. Independent prognostic factors included MDOT (HR = 10.095, P = 0.001) and ovarian metastasis (HR = 5.888, P = 0.008) for OS and MDOT (HR = 3.944, P = 0.028), ovarian metastasis (HR = 9.285, P = 0.001), and deep infiltration (HR = 3.627, P = 0.048) for PFS. CONCLUSION: Endophytic lesion development and ovarian metastasis are likely in MDA. A bulky tumour and ovarian metastasis indicate a worse prognosis. Given the special biological features of MDA, it is more appropriate to use 5.5 cm as the threshold for defining a bulky tumour than it is to use 4 cm. Ovary removal should be given higher priority to improve prognosis.
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Adenocarcinoma , Neoplasias Ovarianas , Neoplasias do Colo do Útero , Feminino , Humanos , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/cirurgia , Prognóstico , Adenocarcinoma/diagnóstico , Adenocarcinoma/cirurgia , Estudos Longitudinais , Estudos Retrospectivos , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/cirurgia , Neoplasias Ovarianas/patologia , Estadiamento de NeoplasiasRESUMO
BACKGROUND: The present study aimed to investigate the changes in volatile components and metabolites of Dendrobium officinale (D. officinale) juice fermented with starter cultures containing Saccharomycopsis fibuligera and Lactobacillus paracasei at 28 â for 15 days and post-ripened at 4 â for 30 days using untargeted metabolomics of liquid chromatography-mass spectrometry (LC-MS) and headspace solid-phase microextraction-gas chromatography (HS-SPME-GC-MS) before and after fermentation. RESULTS: The results showed that the alcohol contents in the S. fibuligera group before fermentation and after fermentation were 444.806 ± 10.310 µg/mL and 510.999 ± 38.431 µg/mL, respectively. Furthermore, the alcohol content in the fermentation broth group inoculated with the co-culture of L. paracasei + S. fibuligera was 504.758 ± 77.914 µg/mL, containing a significant amount of 3-Methyl-1-butanol, Linalool, Phenylethyl alcohol, and 2-Methyl-1-propanol. Moreover, the Ethyl L (-)-lactate content was higher in the co-culture of L. paracasei + S. fibuligera group (7.718 ± 6.668 µg/mL) than in the L. paracasei (2.798 ± 0.443 µg/mL) and S. fibuligera monoculture groups (0 µg/mL). The co-culture of L. paracasei + S. fibuligera significantly promoted the metabolic production of ethyl L (-)-lactate in D. officinale juice. The differential metabolites screened after fermentation mainly included alcohols, organic acids, amino acids, nucleic acids, and their derivatives. Twenty-three metabolites, including 11 types of acids, were significantly up-regulated in the ten key metabolic pathways of the co-culture group. Furthermore, the metabolic pathways, such as pentose and glucuronate interconversions, the biosynthesis of alkaloids derived from terpenoid and polyketide, and aminobenzoate degradation were significantly up-regulated in the co-culture group. These three metabolic pathways facilitate the synthesis of bioactive substances, such as terpenoids, polyketides, and phenols, and enrich the flavor composition of D. officinale juice. CONCLUSIONS: These results demonstrate that the co-culture of L. paracasei + S. fibuligera can promote the flavor harmonization of fermented products. Therefore, this study provides a theoretical basis for analyzing the flavor of D. officinale juice and the functional investigation of fermentation metabolites.
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Dendrobium , Lacticaseibacillus paracasei , Saccharomycopsis , Saccharomycopsis/metabolismo , Terpenos , Ácidos/metabolismo , Lactatos/metabolismo , FermentaçãoRESUMO
Among the three primary gynecological malignancies, ovarian cancer has the lowest incidence but the worst prognosis. Because of the poor prognosis of ovarian cancer patients treated with existing treatments, immunotherapy is emerging as a potentially ideal alternative to surgery, chemotherapy, and targeted therapy. Among immunotherapies, immune checkpoint inhibitors have been the most thoroughly studied, and many drugs have been successfully used in the clinic. CD47, a novel immune checkpoint, provides insights into ovarian cancer immunotherapy. This review highlights the mechanisms of tumor immune evasion via CD47-mediated inhibition of phagocytosis and provides a comprehensive insight into the progress of the relevant targeted agents in ovarian cancer.
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Antineoplásicos , Neoplasias , Neoplasias Ovarianas , Humanos , Feminino , Antígeno CD47/uso terapêutico , Fagocitose , Imunoterapia , Antineoplásicos/uso terapêutico , Neoplasias/tratamento farmacológicoRESUMO
MXenes have been flourishing over the last decade as a high-performance 2D material, which combines the advantages of high electrical conductivity, photothermal conversion, and easy dispersion. They have been used to create soft, highly conductive, self-healing, and tactile-simulating electronic skins (E-skins). However, these E-skins remain generally limited to one or two functions with a complex preparation process. Next-generation E-skins necessitate not only large-scale fabrication using simple and fast methods but also the integration of multiple sensing functions and signal analysis components in order to provide functionality that was not unattainable in the past. Starting with the synthesis of pure MXenes, we walk through the steps of designing MXene sensors, integrating electronic skin arrays, and determining the function of MXene-based electronic skins. We also summarise the problems with existing MXene-based E-skins and possible futuristic directions.
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OBJECTIVES: We performed a clinical study comparing early-onset and late-onset conventional colorectal adenomas (CCRAs) since little is known about the differences in their characteristics. METHODS: Pearson's chi-square test and the KruskalâWallis test were used to compare basic information. MCAR tests and multiple imputation were performed to complete missing values. Multivariate logistic analysis and propensity score matching were used to identify the risk factors for recurrence. RESULTS: We included 2793 patients (688 with early-onset CCRAs and 2105 with late-onset CCRAs) from January 2017 to December 2021. Patients with early-onset CCRAs had higher levels of Hb, ALB, and triglycerides but lower HDL levels and N/L ratios. Moreover, we found that more early-onset CCRAs were in the left colon than late-onset CCRAs, and the size of early-onset CCRAs was larger. Early-onset CCRAs tended to lack pedicles compared to late-onset CCRAs. Additionally, the ratio of EMR and APC in early-onset CCRAs was higher than that in late-onset CCRAs, and the ratio of ESD and surgery for late-onset CCRAs was higher. We found that age ≥ 50 years, abnormal vessels, drinking alcohol, and DB and ALB levels may be risk factors for recurrence, while the LDL level may be a protective factor. Finally, analysis of cumulative recurrence rates after PSM showed that patients with late-onset CCRAs exhibited higher recurrence rates (P < 0.05). CONCLUSION: Compared with late-onset CCRAs, early-onset CCRAs were associated with higher triglyceride levels, lower HDL levels, and larger tumor volumes. Age ≥ 50 years, abnormal vessels, alcohol consumption, and DB and ALB levels were independent risk factors for recurrence of CCRAs.
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Adenoma , Neoplasias Colorretais , Humanos , Pessoa de Meia-Idade , Neoplasias Colorretais/cirurgia , Neoplasias Colorretais/patologia , Fatores de Risco , Análise Multivariada , Adenoma/cirurgia , Adenoma/patologia , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/patologia , Estudos RetrospectivosRESUMO
BACKGROUND: The aim of this study is to analyze patterns of maxillofacial fractures in children and adolescent in southeast of China,in a period of 10 years. MATERIAL AND METHODS: In this retrospective study, the medical records of 162 hospitalized patients under 18 years old were analyzed in the Department of Oral and Maxillofacial Surgery, Stomatology Hospital of Wenzhou Medical University, China. Age, gender, etiology, site, and type of fracture, monthly distribution, weekly distribution, dental complications, and treatment were evaluated. The cases were divided into 3 age groups: group A: 0 to 6 years, group B: 7 to 12 years, and group C: 13 to 18 years. RESULTS: Three hundred thirty-four maxillofacial fractures in 162 patients younger than 18 years were analyzed. The male to female ratio was 2.24:1 and mean age of these patients was 9.85 years old . Falls were the leading cause of maxillofacial fractures.The most frequent fracture site was mandible. Most patients with maxillofacial fractures were treated by open reduction. And it was done more in adolescents than in children. CONCLUSIONS: Falls were the main reason for maxillofacial fracutres in childern, and traffic accidents was the leading cause in adolescent. Preventive measures should be applied to reduce occurrences of pediatric facial fractures .Children can not be left at home alone, and monitoring is very necessary when children play in the high place. The government can consider related e-bike driving skills training. Teenagers must pass the relevant electric vehicle test before they can drive. Make the law that the driver of e-bike must wear a safety helmet. Our study shows that open reduction was a good choice for pediatric facial fractures, but usually conservative treatment is a better choice for condylar fractures.
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Traumatismos Maxilofaciais , Fraturas Cranianas , Adolescente , Criança , Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Estudos Retrospectivos , Traumatismos Maxilofaciais/etiologia , Fraturas Cranianas/complicações , Acidentes de Trânsito , ChinaRESUMO
Congenital absence of the vas deferens (CAVD), a congenital malformation of the male reproductive system, causes obstructive azoospermia and male infertility. Currently, the cystic fibrosis transmembrane conductance regulator (CFTR) has been recognized as the main pathogenic gene in CAVD, with some other genes, such as adhesion G-protein-coupled receptor G2 (ADGRG2), solute carrier family 9 isoform 3 (SLC9A3), sodium channel epithelial 1 subunit beta (SCNN1B), and carbonic anhydrase 12 (CA12), being candidate genes in the pathogenesis of CAVD. However, the frequency and spectrum of these mutations, as well as the pathogenic mechanisms of CAVD, have not been fully investigated. Here, we sequenced all genes with potentially pathogenic mutations using next-generation sequencing and verified all identified variants by Sanger sequencing. Further bioinformatic analysis was performed to predict the pathogenicity of mutations. We described the distribution of the p.V470M, poly-T, and TG-repeat CFTR polymorphisms and identified novel missense mutations in the CFTR and SLC9A3 genes, respectively. Taken together, we identified mutations in the CFTR, ADGRG2, SLC9A3, SCNN1B, and CA12 genes in 22 patients with CAVD, thus broadening the genetic spectrum of Chinese patients with CAVD.
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Doenças Urogenitais Masculinas/genética , Mutação , Ducto Deferente/anormalidades , Adulto , Povo Asiático/genética , Azoospermia/genética , China , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Análise Mutacional de DNA , Canais Epiteliais de Sódio/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Infertilidade Masculina/genética , Masculino , Mutação de Sentido Incorreto , Polimorfismo Genético , Receptores Acoplados a Proteínas G/genética , Análise de Sequência de DNA , Trocador 3 de Sódio-Hidrogênio/genéticaRESUMO
RESEARCH QUESTION: What factors affect the incidence of mosaic embryos resulting from assisted reproductive technology? DESIGN: A retrospective analysis of data from preimplantation genetic testing for aneuploidies in 544 couples was conducted using data from an electronic medical record database. RESULTS: Of 1910 embryos studied, 127 (6.6%) were mosaic. In multivariable logistic regression analysis, mosaicism incidence increased in embryos from IVF versus intracytoplasmic sperm injection (ICSI) (odds ratio [OR] 4.560, 95% confidence interval [CI] 2.800-7.424, P < 0.001), and in embryos from abnormal versus normal semen (OR 3.496, 95% CI 2.455-4.979, P < 0.001). Embryos tested using SurePlex 24Sure had lower mosaicism percentages than those tested using MALBAC-NGS and PicoPLEX GenetiSure (OR 2.726, 95% CI 1.532-4.852, Pâ¯=â¯0.001; OR 2.389, 95% CI 1.537-3.711, P < 0.001, respectively). CONCLUSIONS: Semen quality, fertilization method and detection system are independent factors associated with embryonic mosaicism.
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Mosaicismo , Diagnóstico Pré-Implantação , Aneuploidia , Blastocisto , Feminino , Fertilização in vitro , Testes Genéticos/métodos , Humanos , Masculino , Gravidez , Diagnóstico Pré-Implantação/métodos , Estudos Retrospectivos , Sêmen , Análise do SêmenRESUMO
Acephalic spermatozoa syndrome (ASS) is a rare teratozoospermia that leads to male infertility. Previous work suggested a genetic origin. Variants of Sad1 and UNC84 domain containing 5 (SUN5) are the main genetic cause of ASS; however, its pathogenesis remains unclear. Here, we performed whole-exome sequencing in 10 unrelated ASS and identified 2 homozygous variants, c.381delA[p.V128Sfs7*] and c.675C>A[p.Y225X], and 1 compound variant, c.88 C > T[p.R30X] and c.381 delA [p.V128Sfs7*], in SUN5 in 4 patients. The c.381delA variant had been identified as pathogenic in previous reports, while c.675C>A and c.88 C > T were two novel variants which could lead to a premature termination codon (PTC) and resulted in loss of SUN5, and may also be pathogenic. SUN5 mRNA and protein were present at very low levels in ASS patients with SUN5 nonsense mutation. Furthermore, the distribution of outer dense fiber protein 1 (ODF1) and Nesprin3 was altered in sperm of ASS patients with SUN5 variants. The co-immunoprecipitation analysis indicated that SUN5 and ODF1, SUN5 and Nesprin3, and ODF1 and Nesprin3 interacted with each other in transfected HEK293T cells. Thus, we propose that SUN5, Nesprin3, and ODF1 may form a 'triplet' structure through interactions at neck of sperm. When gene variants resulted in a loss of SUN5, the 'triplet' structure disappears and then the head-tail junction becomes fragile, leading to the occurrence of ASS.
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Proteínas de Membrana/genética , Espermatozoides/ultraestrutura , Teratozoospermia/genética , Análise Mutacional de DNA , Fertilidade , Proteínas de Choque Térmico/metabolismo , Homozigoto , Humanos , Masculino , Proteínas de Membrana/metabolismo , Proteínas dos Microfilamentos/metabolismo , Análise do Sêmen , Cabeça do Espermatozoide/patologia , Sequenciamento do ExomaRESUMO
BACKGROUND: The diagnosis of antiphospholipid syndrome (APS) relies predominantly on the laboratory measurement of antiphospholipid antibodies (aPLs). We attempt to verify the analytical performance of anticardiolipin antibodies (aCL) IgA/IgG/IgM and anti-ß2-glycoprotein I antibodies (aß2GPI) IgA/IgG/IgM on a high-throughput automated immunoassay platform. METHODS: Limit of blank (LOB), limit of detection (LOD), imprecision, and linearity were calculated according to the corresponding Clinical and Laboratory Standards Institute (CLSI) guidelines protocols. The biological reference intervals (RIs) were verified in healthy individuals. RESULTS: The LoB of aCL IgA/IgG/IgM and aß2GPI IgA/IgG/IgM were 0.000, 1.200, 0.200, and 0.400, 1.250, 0.100, respectively. The LoD were 0.093, 1.715, 0.337 and 0.547, 2.174, 0.185 CU, respectively. All the within-run CVs and total CVs were less than the criterion at 10%. The linear analysis showed a good correlation between the predictive values and observed values with correlation coefficients greater than 0.99. CONCLUSIONS: The BIO-FLASH automated chemiluminescent analyzer performed well in measuring aPLs.
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Anticorpos Antifosfolipídeos , Síndrome Antifosfolipídica , Anticorpos Anticardiolipina , Síndrome Antifosfolipídica/diagnóstico , Autoanticorpos , Humanos , beta 2-Glicoproteína IRESUMO
Cadmium (Cd) is a severely toxic and carcinogenic heavy metal. Cigarette smoking is one of the major source of Cd exposure in humans. Nicotiana tabacum is primarily a leaf Cd accumulator, while Nicotiana rustica is a root Cd accumulator among Nicotiana species. However, little is known about the mechanisms of differential Cd translocation and accumulation in Nicotiana. To find the key factors, Cd concentration, Cd chemical forms, and transcriptome analysis were comparatively studied between N. tabacum and N. rustica under control or 10 µM Cd stress. The leaf/root Cd concentration ratio of N. tabacum was 2.26 and that of N. rustica was 0.14. The Cd concentration in xylem sap of N. tabacum was significantly higher than that of N. rustica. The root of N. tabacum had obviously higher proportion of ethanol extractable Cd (40%) and water extractable Cd (16%) than those of N. rustica (16% and 6%). Meanwhile the proportion of sodium chloride extracted Cd in N. rustica (71%) was significantly higher than that in N. tabacum (30%). A total of 30710 genes expressed differentially between the two species at control, while this value was 30,294 under Cd stress, among which 27,018 were collective genes, manifesting the two species existed enormous genetic differences. KEGG pathway analysis showed the phenylpropanoid biosynthesis pathway was overrepresented between the two species under Cd stress. Several genes associated with pectin methylesterase, suberin and lignin synthesis, and heavy metal transport were discovered to be differential expressed genes between two species. The results suggested that the higher accumulation of Cd in the leaf of N. tabacum depends on a comprehensive coordination of Cd transport, including less cell wall binding, weaker impediment by the Casparian strip, and efficient xylem loading.
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Cádmio/toxicidade , Nicotiana/fisiologia , Transcriptoma , Parede Celular/metabolismo , Perfilação da Expressão Gênica , Humanos , Metais Pesados/metabolismo , Folhas de Planta/metabolismo , Raízes de Plantas/metabolismo , Nicotiana/metabolismo , Xilema/metabolismoRESUMO
One motile strain designated, YIM DR1026T was isolated from the roots of Psammosilene tunicoides collected from Gejiu, Yunnan province, China. The cells of strain YIM DR1026T were Gram-negative and short-rod shaped. Phylogenetic analyses based on 16S rRNA gene sequences indicated that strain YIM DR1026T was a member of the genus Aureimonas and closely related to Aureimonas rubiginis (96.7%). DNA-DNA relatedness values between strain YIM 1026T and Aureimonas rubiginis BCRC 80440T was 38.2 ± 1.5%. The ANI value between YIM DR1026T and other Aureimonas members were below the cut-off level (95-96%) recommended as the average nucleotide identity (ANI) criterion for interspecies identity. Strain YIM DR1026T grew at 4-30 °C (optimum 28 °C), pH 4.0-9.0 (optimum pH 6.0-7.0) and tolerated NaCl (w/v) up to 1% (optimum 0%). Q-10 was sole the respiratory ubiquinone present in YIM DR1026T. Polar lipids of strain YIM DR1026T were phosphatidylethanolamine, phosphatidylglycerol, diphosphatidylglycerol, phosphatidylcholine, sulfoquinovosyldiacylglycerol, unidentified aminolipid and unidentified polar lipid. The genomic G + C content was 64.6 mol%. The major fatty acids were C18:1ω7c, C16:0 and summed feature 3 (C16:1ω7c/C16:1ω6c). Based on phenotypic, phylogenetic, chemotaxonomic and genome comparison, strain YIM DR1026T represents a novel species of the genus Aureimonas, for which the name Aureimonas psammosilene sp. nov. is proposed. The type strain is YIM DR1026T (= KCTC 42691T = NBRC 112412T).
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Alphaproteobacteria/classificação , Caryophyllaceae/microbiologia , Filogenia , Raízes de Plantas/microbiologia , Alphaproteobacteria/genética , Alphaproteobacteria/isolamento & purificação , Composição de Bases , China , DNA Bacteriano/genética , Ácidos Graxos/análise , Fosfolipídeos/análise , RNA Ribossômico 16S/genética , Especificidade da EspécieRESUMO
It is well known that the sine oculis homeobox 4 (SIX4) expression is very relevant to the progression of multiple cancers. Moreover, we found that miR-802 could directly target the SIX4. However, the precise mechanism of miR-802 in glioblastoma multiforme (GBM) is still unknown. The aim of this study is to investigate the roles of miR-802/SIX4 axis in GBM. Here, our results showed that the SIX4 expression was obviously increased in GBM tissues and cell lines, and the miR-802 level was distinctly decreased. What is more, the SIX4 expression was negatively related to the miR-802 level in GBM tissues. Furthermore, increased miR-802 level evidently restrained the proliferation, invasion, and epithelial-mesenchymal transition (EMT) of GBM cells. Next, we confirmed that miR-802 could directly target SIX4 by using luciferase reporter assay. Besides, the knockdown of SIX4 had the similar effects with miR-802 overexpression on GBM cells. The inhibitory effects of miR-802 mimic were partially blocked by SIX4 overexpression. Altogether, the overexpression of miR-802 restrained cell proliferation, invasion, and EMT of GBM cells via the regulation of SIX4. SIGNIFICANCE OF THE STUDY: An elevated expression of SIX4 has been observed in colorectal cancer and nonsmall cell lung cancer. However, the precise roles of SIX4 in GBM have not been elucidated. Our study for the first time demonstrated that SIX4 level was significantly upregulated in GBM. Additionally, the knockdown of SIX4 inhibited cell growth, invasion, and the EMT of GBM. Moreover, our data suggested a significant negative correlation between miR-802 and SIX4 expression in GBM. MiR-802 suppressed GBM cell proliferation, invasion, and EMT by directly targeting SIX4, which suggested important roles for miR-802/SIX4 axis in the GBM pathogenesis and its potential application in cancer therapy.
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Transição Epitelial-Mesenquimal/efeitos dos fármacos , Glioblastoma/tratamento farmacológico , Proteínas de Homeodomínio/antagonistas & inibidores , MicroRNAs/farmacologia , Transativadores/antagonistas & inibidores , Proliferação de Células/efeitos dos fármacos , Células Cultivadas , Glioblastoma/metabolismo , Glioblastoma/patologia , Proteínas de Homeodomínio/genética , Proteínas de Homeodomínio/metabolismo , Humanos , MicroRNAs/metabolismo , Transativadores/genética , Transativadores/metabolismo , Regulação para CimaRESUMO
Cryopreservation of human spermatozoa with low concentration while maintaining adequate post-thawing motility remains a major challenge for male fertility preservation. A convenient and efficient ultra-rapid freezing method for small amounts of human spermatozoa in a closed Hemi-Straw carrier system (CHS) was developed. Spermatozoa from 60 healthy men were involved in a parameter refining test and another 15 extreme oligozoospermic specimens were assigned to a verification test. A commercialized sperm freezing medium, Quinn's Advantage® Sperm Freeze medium (glycerol and sucrose as the cryoprotective agent) was used in the study. The results showed that the highest recovery rates would be obtained via the method of 2 µl single droplet sequential interval loading, by placing the straw at 1 cm above the liquid nitrogen (LN2) surface for 60 s during freezing and 2 cm above the LN2 for 2 min during thawing. This method was applied in cryopreservation for the normozoospermic specimens and compared with a conventional slow freezing method. The results were better than those in the control group in the total motility recovery rate (77.8 ± 11.2% vs 56.6 ± 11.9%, P < 0.01), progressive motility recovery rate (77.6 ± 13.2% vs 47.7 ± 14.6%, P < 0.01), 24 h survival index (60.9 ± 13.4% vs 42.1 ± 14.1%, P < 0.01) and the sperm DNA fragment index (4.2 ± 3.7% vs 5.8 ± 3.7%, P = 0.126). This method was applied to the oligozoospermic specimens. Motile spermatozoa could be found in 12 of 15 cases in the ultra-rapid freezing group, while only in 7 cases in control group. The results indicated that this freezing method was simple, convenient and bio-safe for cryopreservation of severe oligozoospermic specimens.
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Criopreservação/métodos , Preservação do Sêmen/métodos , Espermatozoides , Crioprotetores , Preservação da Fertilidade , Congelamento , Glicerol , Humanos , Masculino , Oligospermia , Motilidade dos Espermatozoides , SacaroseRESUMO
BACKGROUND: The relationship between renal function and bone mineral density (BMD) is controversial. The aim of this study was to determine the relationship of renal function with BMD and osteoporosis risk in healthy postmenopausal Chinese women. METHODS: A cross-sectional study was conducted in 776 healthy postmenopausal Chinese women. Dual-energy X-ray absorptiometry was used to measure BMDs. Clinical, demographic, and biochemical data were obtained at the time of image acquisition. Estimated glomerular filtration rate (eGFR) was calculated using a Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation. RESULTS: Women with eGFR levels of at least 90 ml/min/1.73m2 had a lower prevalence of osteoporosis compared with women with decreased eGFR levels (60 ml/min/1.73 m2 ≤ eGFR < 90.0 ml/min/1.73 m2). BMDs at femoral neck and total hip were significantly lower in the lower eGFR class than the higher class (0.717 ± 0.106 vs 0.744 ± 0.125 g/cm2, P < 0.01; 0.796 ± 0.116 vs 0.823 ± 0.129 g/cm2, P < 0.01, respectively). eGFR was positively correlated with BMDs at femoral neck and total hip in unadjusted analysis (P < 0.05). After controlling for age, menopausal duration and body mass index (BMI), decreased eGFR was not associated with osteoporosis risk. CONCLUSIONS: After adjustments for age, menopausal duration and BMI, the decline in renal function was not independently associated with osteoporosis risk in healthy postmenopausal Chinese women.
Assuntos
Densidade Óssea/fisiologia , Taxa de Filtração Glomerular/fisiologia , Pós-Menopausa/fisiologia , Idoso , China/epidemiologia , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Osteoporose Pós-Menopausa/epidemiologia , Osteoporose Pós-Menopausa/fisiopatologia , Prevalência , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/fisiopatologia , Fatores de RiscoRESUMO
Cassava is a tropical crop known for its starchy root and excellent properties. Considering that starch biosynthesis in the amyloplast is affected by its division, it appears conceivable that the regulation of plastid division plays an important role in starch accumulation. As a member of the Min system genes, MinD participated in the spatial regulation of the position of the plastid division site.In our studies, sequence analysis and phylogenetic analysis showed that MeMinD has been highly conserved during the evolutionary process. Subcellular localisation indicated that MeMinD carries a chloroplast transit peptide and was localised in the chloroplast. Overexpression of MeMinD resulted in division site misplacement and filamentous formation in E. coli, indicating that MeMinD protein was functional across species. MeMinD exhibited different spatial and temporal expression patterns which was highly expressed in the source compared to that in the sink organ.
Assuntos
Regulação da Expressão Gênica de Plantas , Genes de Plantas , Manihot/genética , Manihot/ultraestrutura , Plastídeos , Sequência de Aminoácidos , Clonagem Molecular , Sequência Conservada , Manihot/classificação , Manihot/fisiologia , Filogenia , Melhoramento Vegetal , Proteínas de Plantas/química , Proteínas de Plantas/metabolismo , Homologia de Sequência de Aminoácidos , Frações Subcelulares/metabolismoRESUMO
The MinE protein plays an important role in plastid division. In this study, the MinE gene was isolated from the cassava (Manihot esculenta Crantz) genome. We isolated high quality and quantity protoplasts and succeed in performing the transient expression of the GFP-fused Manihot esculenta MinE (MeMinE) protein in cassava mesophyll protoplasts. The transient expression of MeMinE-GFP in cassava protoplasts showed that the MeMinE protein was located in the chloroplast. Due to the abnormal division of chloroplasts, overexpression of MeMinE proteins in cassava mesophyll protoplasts could result in fewer and smaller chloroplasts. Overexpression of MeMinE proteins also showed abnormal cell division characteristics and minicell occurrence in Escherichia coli caused by aberrant septation events in the cell poles.
Assuntos
Regulação da Expressão Gênica de Plantas , Manihot/citologia , Manihot/genética , Proteínas de Plantas/genética , Plastídeos/metabolismo , Sequência de Aminoácidos , Modelos Moleculares , Proteínas de Plantas/química , Conformação ProteicaRESUMO
The Dynamin gene family play a significance role in many physiological processes, especially ARC5 (Accumulation and replication of chloroplasts 5) in the process of plastid division. We performed a genome-wide analysis of the cassava Dynamin family based on the published cassava genome sequence and identified ARC5. 23 cassava Dynamins (MeDynamins) were identified and renamed. 23 MeDynamins were further divided into five major groups based on their structural and phylogenetic characteristics. The segmental duplication events have a significant impact on the expansion of MeDynamins. ARC5 expression analysis showed that there were differences between leaves and roots of cassava at different developmental stages. The tissue-specific expression analysis of the MeDynamins showed that most of MeDynamins were expressed in stem apical meristem and embryogenesis, whereas ARC5 was mainly expressed in leaves. The processing of IAA (Indole-3-acetic Acid) and MeJA (Methyl Jasmonate) verified the prediction results of cis-elements, and ACR5 was closely related to plant growth and positively correlated. It also indicated that high concentrations of MeJA treatment caused the cassava defense mechanism to function in advance. In conclusion, these findings provide basic insights for functional validation of the ARC5 genes in exogenous hormonal treatments.