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1.
J Mol Neurosci ; 74(2): 32, 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38536538

RESUMO

Down syndrome (DS) is the most example of aneuploidy, resulting from an additional copy of all or part of chromosome 21. Competing endogenous RNAs (ceRNAs) play important roles in neuronal development and neurological defects. This study aimed to identify hub genes and synergistic crosstalk among ceRNAs in the DS fetal hippocampus as potential targets for the treatment of DS-related neurodegenerative diseases. We profiled differentially expressed long non-coding RNAs (DElncRNAs), differentially expressed circular RNAs (DEcircRNAs), differentially expressed microRNAs (DEmiRNAs), and differentially expressed messenger RNAs (DEmRNAs) in hippocampal samples from patients with or without DS. Functional enrichment analysis and gene set enrichment analysis were performed, and chromosome 21-related ceRNA and protein-protein interaction networks were constructed. Additionally, the correlations between lncRNA-mRNA and miRNA-mRNA expression in the samples and HEK293T cells were validated. Our finding of changes in the expression of some key genes and ncRNAs on chromosome 21 in DS might not fully conform to the gene dosage hypothesis. Moreover, we found that four lncRNAs (MIR99AHG, PLCB4, SNHG14, GIGYF2) and one circRNA (hsa_circ_0061697) may competitively bind with three miRNAs (hsa-miR-548b-5p, miR-730-5p, and hsa-miR-548i) and subsequently regulate five mRNAs (beta-1,3-galactosyltransferase 5 [B3GALT5], helicase lymphoid-specific [HELLS], thrombospondin-2 [THBS2], glycinamide ribonucleotide transformylase [GART], clathrin heavy chain like 1 [CLTCL1]). These RNAs, whether located on chromosome 21 or not, interact with each other and might activate the PI3K/Akt/mTOR and Wnt signaling pathways, which are involved in autophagosome formation and tau hyperphosphorylation, possibly leading to adverse consequences of trisomy 21. These findings provide researchers with a better understanding of the fundamental molecular mechanisms underlying DS-related progressive defects in neuronal development.


Assuntos
Síndrome de Down , MicroRNAs , RNA Longo não Codificante , Humanos , Síndrome de Down/genética , RNA Endógeno Competitivo , Células HEK293 , Fosfatidilinositol 3-Quinases , MicroRNAs/genética , RNA Mensageiro/genética , RNA Circular/genética , Hipocampo , Redes Reguladoras de Genes
2.
Endocrine ; 2024 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-38400881

RESUMO

PURPOSE: Exploring the connection between Hashimoto's thyroiditis (HT) and non-alcoholic fatty liver disease (NAFLD) through integrated genetic approaches. METHODS: We utilized integrated genetic approaches, such as single-cell RNA sequencing (scRNA-seq) data analysis, Mendelian Randomization (MR), colocalization analysis, cell communication, and metabolic analyses, to investigate potential correlations between HT and NAFLD. RESULTS: Through the integrated analysis of scRNA-seq data from individuals with HT, NAFLD, and healthy controls, we observed an upregulation in the proportion of CD4+central memory (CD4+CM) T cells among T cells in both diseases. A total of 63 differentially expressed genes (DEGs) were identified in the CD4+CM cells after the differential analysis. By using MR, 8 DEGs (MAGI3, CSGALNACT1, CAMK4, GRIP1, TRAT1, IL7R, ERN1, and MB21D2) were identified to have a causal relationship with HT, and 4 DEGs (MAGI3, RCAN3, DOCK10, and SAMD12) had a causal relationship with NAFLD. MAGI3 was found to be causally linked to both HT and NAFLD. Therefore, MAGI3 was designated as the marker gene. Reverse MR and Steiger filtering showed no evidence of reverse causality. Colocalization analyses further indicated close links between MAGI3 and HT as well as NAFLD. Finally, based on the expression levels of MAGI3, we stratified CD4+CM cells into two subsets: MAGI3+CD4+CM cells and MAGI3-CD4+CM cells. Functional analyses revealed significant differences between the two subsets, potentially related to the progression of the two diseases. CONCLUSION: This study delves into the potential connections between HT and NAFLD through integrated genetic methods. Our research reveals an elevated proportion of CD4+CM cells within T cells in both HT and NAFLD. Through MR and colocalization analysis, we identify specific genes causally linked to HT and NAFLD, such as MAGI3. Ultimately, based on MAGI3 expression levels, we categorize CD4+CM cells into MAGI3+CD4+CM cells and MAGI3-CD4+CM cells, uncovering significant differences between them through functional analyses.

3.
Zhongguo Zhong Yao Za Zhi ; 49(1): 216-223, 2024 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-38403354

RESUMO

This study aims to investigate the effect of Buyang Huanwu Decoction on blood flow recovery and arteriogenesis after hindlimb ischemia in mice via the platelet-derived growth factor(PDGF) signaling pathway. Forty C57BL/6 mice were randomized into model(clean water, 10 mL·kg~(-1)·d~(-1)), beraprost sodium(positive control, 18 µg·kg~(-1)·d~(-1)), and low-, medium-, and high-dose(10, 20, and 40 g·kg~(-1)·d~(-1), respectively) Buyang Huanwu Decoction groups(n=8). The hindlimb ischemia model was established by femoral artery ligation. The mice were administrated with corresponding agents by gavage daily for 14 days after ligation. For laser Doppler perfusion imaging, the mice were anesthetized and measured under a Periscan PSI imager. The density of capillary and arterio-le in the ischemic gastrocnemius was measured using immunofluorescence staining of the frozen tissue sections. Western blot was employed to determine the expression of PDGF subunit B(PDGFB), phosphorylated mitogen extracellular kinase(p-MEK), MEK, phosphorylated extracellular signal-regulated kinase(p-ERK), and ERK. Real-time PCR was employed to determine the mRNA level of PDGFB. The Buyang Huanwu Decoction-containing serum was used to treat the vascular smooth muscle cells(VSMCs) in hypoxia at doses of 10% and 20%. The proliferation and migration of VSMCs was assessed in vitro. The results showed that compared with the model group, beraprost sodium and Buyang Huanwu Decoction enhanced the blood flow recovery, increased the capillary and arteriole density, and up-regulated the protein levels of PDGFB, p-MEK, p-ERK, and mRNA levels of PDGFB, with the medium-dose Buyang Huanwu Decoction demonstrating the most significant effect. The 10% Buyang Huanwu Decoction-containing serum enhanced the proliferation and migration of VSMCs. Our findings demonstrate that Buyang Huanwu Decoction up-regulates PDGFB transcription and activates PDGF signaling pathway to promote arteriogenesis and blood flow recovery in ischemic gastrocnemius.


Assuntos
Medicamentos de Ervas Chinesas , Ratos , Camundongos , Animais , Ratos Sprague-Dawley , Proteínas Proto-Oncogênicas c-sis , Camundongos Endogâmicos C57BL , Medicamentos de Ervas Chinesas/uso terapêutico , Transdução de Sinais , Isquemia/tratamento farmacológico , Membro Posterior/metabolismo , RNA Mensageiro/metabolismo , Quinases de Proteína Quinase Ativadas por Mitógeno/metabolismo
4.
Heart Surg Forum ; 26(4): E346-E357, 2023 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-37679092

RESUMO

BACKGROUND: The cardio-renal syndrome and hepatic impairment play a critical role in end-stage heart failure (HF). Levosimendan is an effective inotropic agent used to maintain cardiac output similar to classic cardiotonic like dobutamine/dopamine. This current research aims to investigate the clinical outcomes of levosimendan and dobutamine/dopamine in Chinese heart transplant awaiting patients with severe hepatic or renal impairment. METHODS: We performed a retrospective analysis of 568 heart transplant awaiting individuals with severe hepatic or renal impairment who treated with levosimendan or dobutamine/dopamine in our institution between January 2015 and December 2020. Univariate Cox proportional hazard models and Kaplan-Meier survival curves were applied. The primary endpoint was defined as death included inhospital mortality and the mortality at 30 days, 90 days, 180 days and 1 year after heart transplantation. RESULTS: There were no significant differences in mortality rate at 30, 90, 180 days and 1 years after heart transplantation between the levosimendan and non-levosimendan groups, or between subgroups of patients with severe hepatic impairment or renal impairment. The results were consistent before and after propensity score matching. CONCLUSIONS: In the population with advanced heart failure awaiting heart transplantation, levosimendan did not increase short- or long-term mortality rates after surgery compared to dobutamine/dopamine, regardless of their hepatic or renal function. Severe hepatic or renal impairment were not necessarily considered a contraindication for levosimendan in these patients.


Assuntos
Insuficiência Cardíaca , Transplante de Coração , Insuficiência Renal , Humanos , Estudos Retrospectivos , Simendana , Dobutamina , Dopamina , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/tratamento farmacológico , Insuficiência Cardíaca/cirurgia
5.
Pestic Biochem Physiol ; 194: 105502, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37532322

RESUMO

Rice sheath blight caused by Rhizoctonia solani Kühn is a major fungal disease that plagues commercially grown rice. Occurring mainly in leaf sheaths and leaves, the disease leads to great losses in food production. ß-amino-butyric acid (BABA) has been demonstrated to activate an induced resistance response and is a potent inducer of broad-spectrum disease resistance in different plant species. In this study, ß-amino-butyric acid conjugate of phenazine-1-carboxylic acid (PCA) with prominent induced resistance to rice sheath blight was tested. The in vitro fungicidal activity, as well as in vivo efficacy, systemicity, induced resistance and defense enzyme activity of BABA conjugate of PCA against R. solani in rice seedlings was systematically evaluated. The results indicated that in vitro fungicidal activity of PCA-ß-aminobutyric acid (4e) against R. solani was lower than that of PCA, but in vivo curative ability of 4e was the highest among all tested compounds. The systemicity tests in rice seedlings revealed that PCA did not possess phloem mobility, while 4e exhibited moderate phloem mobility but much lower thanα-amino-butyric acid conjugate of PCA (4d). In addition, Compound 4e showed the highest induced activity against rice sheath blight. The observed effects of defense enzymes help to explain this high level of induced activity. The current research results indicate that in rice seedlings, BABA conjugate of PCA induce observable resistance to rice sheath blight and exhibit moderate phloem mobility, which could be used as an induced resistance fungicide against rice sheath blight in commercial rice production. The BABA conjugate of PCA might provide a useful example of induced resistance to R. solani.


Assuntos
Oryza , Oryza/microbiologia , Doenças das Plantas/prevenção & controle , Doenças das Plantas/microbiologia , Rhizoctonia , Plântula
6.
EMBO J ; 42(16): e112414, 2023 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-37382239

RESUMO

The E3 ligase MDM2 promotes tumor growth and progression by inducing ubiquitin-mediated degradation of P53 and other tumor-suppressing proteins. Here, we identified an MDM2-interacting lncRNA NRON, which promotes tumor formation by suppressing both P53-dependent and independent pathways. NRON binds to MDM2 and MDMX (MDM4) via two different stem-loops, respectively, and induces their heterogenous dimerization, thereby enhancing the E3 ligase activity of MDM2 toward its tumor-suppressing substrates, including P53, RB1, and NFAT1. NRON knockdown dramatically inhibits tumor cell growth in vitro and in vivo. More importantly, NRON overexpression promotes oncogenic transformation by inducing anchorage-independent growth in vitro and facilitating tumor formation in immunocompromised mice. Clinically, NRON expression is significantly associated with poor clinical outcome in breast cancer patients. Together, our data uncover a pivotal role of lncRNA that induces malignant transformation of epithelial cells by inhibiting multiple tumor suppressor proteins.


Assuntos
Proteínas Proto-Oncogênicas c-mdm2 , RNA Longo não Codificante , Animais , Camundongos , Carcinogênese/genética , Linhagem Celular Tumoral , Transformação Celular Neoplásica/genética , Proteínas Proto-Oncogênicas c-mdm2/genética , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Proteína Supressora de Tumor p53/genética , Proteína Supressora de Tumor p53/metabolismo , Ubiquitina-Proteína Ligases/metabolismo , Ubiquitinação
7.
Clin Transplant ; 37(8): e14958, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37013964

RESUMO

BACKGROUND: Fasting blood glucose (FBG) variability, an emerging marker of glycemic control, has been shown to be related to the risk of cardiovascular events and all-cause mortality in subjects with or without diabetes. However, whether FBG variability is independently associated with a higher all-cause mortality in heart transplant recipients remains unknown. METHODS: We performed a retrospective cohort study including 373 adult recipients who survived for at least 1 year after heart transplantation with a functioning graft and measured FBG more than three times within first year after transplantation. Multivariable adjusted Cox regression analyses were performed to assess the association between FBG variability and all-cause mortality. RESULTS: Patients were categorized into three groups according to the coefficient of variation of FBG level: ≤7.0%, 7.0%-13.5%, and >13.5%. During a median follow-up of 44.4 months (interquartile range [IQR], 22.6-63.3 months), 31 (8.3%) participants died. In univariate analyses, FBG variability was associated with an increased all-cause mortality (hazard ratio [HR]: 3.00, 95% confidence interval [CI]: 1.67, 5.38; p < .001). This association remained materially unchanged in the multivariable model adjusted for components of demographics, cardiovascular history and lifestyle, hospital information, immunosuppressive therapy, and post-transplant renal function (HR: 2.75, 95% CI: 1.43, 5.28; p = .004). CONCLUSIONS: After heart transplantation, high FBG variability is strongly and independently associated with an increased risk of all-cause mortality. Our findings suggest that FBG variability is a novel risk factor and prognostic marker for heart transplantation recipients in outpatient clinic.


Assuntos
Diabetes Mellitus , Transplante de Coração , Adulto , Humanos , Glicemia , Estudos Retrospectivos , Fatores de Risco , Transplante de Coração/efeitos adversos , Jejum , Transplantados
8.
Int J Biol Macromol ; 232: 123444, 2023 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-36708901

RESUMO

In this study, emulsion gels were constructed by ionic gelation method using egg yolk granules/sodium alginate bilayers emulsion. In particular, the main driving force of the emulsion gels was controlled by adjusting pH. Compared with pH 7.0, the mechanical properties of EYGs emulsion gel were enhanced at pH 4.0 (G' > G″). The interfacial protein aggregation that occurred at pH 4.0 promoted the compactness of the EYGs emulsion gel structure along with enhanced capillary effect. The emulsion gel structure tended to be complete at 1 % SA of pH 4.0, for the electrostatic interaction required more SA molecules involved in maintaining emulsion gel structural stability. The denser emulsion gel structure of pH 4.0 than pH 7.0 improved storage stability, FFA releasing, and chemical stability of ß-carotenes. Bioaccessibility of ß-carotenes also decreased to achieve sustained release. This study provides a theoretical basis for tuning emulsion gel structure to adjust encapsulation stability and in vitro digestion characteristics of active ingredients.


Assuntos
Gema de Ovo , beta Caroteno , Emulsões/química , Gema de Ovo/química , beta Caroteno/química , Alginatos/química , Géis/química , Digestão
9.
Food Chem ; 402: 134512, 2023 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-36303394

RESUMO

In this work, the heat-induced ovalbumin (OVA)-pectin (PE) electrostatic complex particles (HIECP) prepared by different heating sequences (type I particles (I): Heat-treated ovalbumin/pectin complexes at pH 4; type II particles (II): Complexes between pre-heated ovalbumin and pectin at pH 4) and biopolymer ratios were used as stabilizers to form high internal phase Pickering emulsions (HIPPEs). The results showed that I had a more compact structure, higher net surface charge, and smaller particle size than II, due to the different growth nucleation mechanism. II-stabilized HIPPEs exhibited a smaller oil droplet size, stronger gel structure, and better stability than I-stabilized HIPPEs, owing to their suitable wettability, rigid "core-shell" structure, and robust and dense interface architecture. Moreover, the stability and gel-like structure of HIECP-stabilized HIPPEs improved with increasing PE content due to steric barrier and thickening effects. Our findings provide a new perspective for understanding heat-induced biopolymer particles as effective Pickering stabilizers.


Assuntos
Temperatura Alta , Pectinas , Emulsões/química , Eletricidade Estática , Ovalbumina , Tamanho da Partícula
10.
Int J Mol Sci ; 25(1)2023 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-38203592

RESUMO

To grow in various harsh environments, extremophiles have developed extraordinary strategies such as biofilm formation, which is an extremely complex and progressive process. However, the genetic elements and exact mechanisms underlying extreme biofilm formation remain enigmatic. Here, we characterized the biofilm-forming ability of Deinococcus radiodurans in vitro under extreme environmental conditions and found that extremely high concentrations of NaCl or sorbitol could induce biofilm formation. Meantime, the survival ability of biofilm cells was superior to that of planktonic cells in different extreme conditions, such as hydrogen peroxide stress, sorbitol stress, and high UV radiation. Transcriptome profiles of D. radiodurans in four different biofilm development stages further revealed that only 13 matched genes, which are involved in environmental information processing, carbohydrate metabolism, or stress responses, share sequence homology with genes related to the biofilm formation of Escherichia coli, Pseudomonas aeruginosa, and Staphylococcus aureus. Overall, 64% of the differentially expressed genes are functionally unknown, indicating the specificity of the regulatory network of D. radiodurans. The mutation of the drRRA gene encoding a response regulator strongly impaired biofilm formation ability, implying that DrRRA is an essential component of the biofilm formation of D. radiodurans. Furthermore, transcripts from both the wild type and the drRRA mutant were compared, showing that the expression of drBON1 (Deinococcus radioduransBON domain-containing protein 1) significantly decreased in the drRRA mutant during biofilm development. Further analysis revealed that the drBON1 mutant lacked the ability to form biofilm and DrRRA, and as a facilitator of biofilm formation, could directly stimulate the transcription of the biofilm-related gene drBON1. Overall, our work highlights a molecular mechanism mediated by the response regulator DrRRA for controlling extreme biofilm formation and thus provides guidance for future studies to investigate novel mechanisms that are used by D. radiodurans to adapt to extreme environments.


Assuntos
Deinococcus , Deinococcus/genética , Biofilmes , Agregação Celular , Cognição , Escherichia coli , Sorbitol
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(12): 1385-1389, 2022 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-36453964

RESUMO

OBJECTIVE: To explore the genetic etiology for a child featuring mental retardation and speech delay. METHODS: Clinical data of the child was collected. DNA was extracted from peripheral blood samples of the child and members of his pedigree. Whole exome sequencing was carried out for the child, and candidate variants were verified by Sanger sequencing. Prenatal diagnosis was provided for his mother upon her subsequent pregnancy. RESULTS: The child has mainly featured mental retardation, speech delay, ptosis, strabismus, photophobia, hyperactivity, and irritability. Whole exome sequencing revealed that he has harbored a pathogenic heterozygous variant of the KAT6A gene, namely c.5314dupA (p.Ser1772fs*20), which was not detected in either of his parents. The child was diagnosed with Arboleda-Tham syndrome. The child was also found to harbor a hemizygous c.56T>G (p.Leu19Trp) variant of the AIFM1 gene, for which his mother was heterozygous and his phenotypically normal maternal grandfather was hemizygous. Pathogenicity was excluded. Prenatal diagnosis has excluded the c.5314dupA variant of the KAT6A gene in the fetus. CONCLUSION: The heterozygous c.5314dupA (p.Ser1772fs*20) variant of the KAT6A gene probably underlay the Arboleda-Tham syndrome in this child. Above finding has enabled genetic counseling and prenatal diagnosis for this pedigree.


Assuntos
Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Criança , Humanos , Masculino , Gravidez , Histona Acetiltransferases , Deficiência Intelectual/genética , Linhagem
12.
Reprod Biomed Online ; 45(6): 1207-1215, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36210274

RESUMO

RESEARCH QUESTION: Do maternal homocysteine (Hcy) concentrations, MTHFR and MTRR genes have effects on the occurrence of fetal aneuploidy? DESIGN: A total of 619 aneuploidy mothers and 192 control mothers were recruited in this study. Differences in distributions of maternal MTHFR 677C>T, MTHFR 1298A>C and MTRR 66A>G genetic polymorphisms and maternal Hcy concentrations between aneuploidy mothers and control mothers were analysed. RESULTS: The maternal MTHFR 677C>T polymorphism was found to be a risk factor for the occurrence of many fetal non-mosaic aneuploidies studied here, including trisomies 13, 15, 16, 18, 21, 22, TRA and TS. The maternal MTHFR 1298A>C polymorphism was found to be a risk factor specifically associated with the occurrence of fetal trisomy 15 and fetal TS. The maternal MTRR 66A>G polymorphism was found to be a risk factor only specifically associated with the occurrence of fetal trisomy 21. The Hcy concentrations of mothers of trisomies 22, 21, 18, 16, 15 and TS fetuses were significantly higher than the Hcy concentrations of control mothers. CONCLUSIONS: Overall, data suggested an association between these maternal polymorphisms and the susceptibility of fetal non-mosaic trisomy and Turner syndrome. However, these three maternal polymorphisms had different associations with the susceptibility of different fetal aneuploidies, and the elevated maternal Hcy concentration appeared to be a likely risk factor for fetal Turner syndrome and fetal trisomies.


Assuntos
Flavoproteínas , Homocisteína , Metilenotetra-Hidrofolato Redutase (NADPH2) , Trissomia , Síndrome de Turner , Feminino , Humanos , Aneuploidia , Estudos de Casos e Controles , Feto , Ácido Fólico , Genótipo , Homocisteína/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Trissomia/genética , Síndrome de Turner/genética , Flavoproteínas/genética
13.
Bioresour Technol ; 360: 127535, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35779747

RESUMO

Anaerobic digestion is a prevalent bioenergy production process relying on a complex network of symbiotic interactions, where the nutrient based cross-feeding is an essential microbial mechanism. Here, the cross-feeding function was assessed by analyzing extracellular polymeric substances-associated amino acids in microbial aggregates collected from 14 lab-scale anaerobic digesters, as well as deciphering their genetically biosynthetic potential by syntrophic bacteria and methanogens. The total concentration of essential amino acids ranged from 1.2 mg/g VSS to 174.0 mg/g VSS. The percentages of glutamic acid (8.5 âˆ¼ 37.6%), lysine (2.7 âˆ¼ 22.6%), alanine (5.6 âˆ¼ 13.2%), and valine (3.0 âˆ¼ 10.4%) to the total amount of detected amino acids were the highest in most samples. Through metagenomics analysis, several investigated syntrophs (i.e., Smithella, Syntrophobacter, Syntrophomonas, and Mesotoga) and methanogens (i.e., Methanothrix and Methanosarcina) were auxotrophies, but the genetic ability of syntrophs and methanogens to synthesize some essential amino acids could be complementary, implying potential cross-feeding partnership.


Assuntos
Reatores Biológicos , Euryarchaeota , Aminoácidos/metabolismo , Aminoácidos Essenciais , Anaerobiose , Bactérias/genética , Bactérias/metabolismo , Reatores Biológicos/microbiologia , Euryarchaeota/metabolismo , Metano/metabolismo
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(5): 468-473, 2022 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-35598259

RESUMO

OBJECTIVE: To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening. METHODS: 7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up. RESULTS: Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations. CONCLUSION: Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.


Assuntos
Variações do Número de Cópias de DNA , Gestantes , Líquido Amniótico , Aneuploidia , Aberrações Cromossômicas , Feminino , Genômica , Humanos , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal/métodos , Tecnologia
15.
Biomed Res Int ; 2022: 4286621, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35028314

RESUMO

Around the whole world, smoking is considered harmful to human health, such as increasing the risk of cardiovascular disease (CVD, such as coronary heart disease and stroke) and lung cancer. The purpose of this study was to explore whether nicotine, the main component of tobacco, has adverse effects on heart rate variability (HRV) in adolescents, so as to remind adolescents not to smoke and not to take pleasure in abusing nicotine. In this study, 40 male and 40 female young healthy nonsmoking subjects were selected to analyze the changes of HRV after taking 4 mg nicotine orally. We found that nicotine reduced HRV in young healthy male and female subjects, and there was no gender difference in this effect (P > 0.05). In conclusion, smoking is harmful to the cardiac system of young people, especially when nicotine content ≥4 mg dosage.


Assuntos
Frequência Cardíaca/efeitos dos fármacos , Nicotina/farmacologia , Adolescente , Adulto , Doenças Cardiovasculares/induzido quimicamente , Doenças Cardiovasculares/fisiopatologia , Feminino , Humanos , Masculino , Fumar/efeitos adversos , Fumar/fisiopatologia , Adulto Jovem
16.
Sci Total Environ ; 807(Pt 1): 150732, 2022 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-34606861

RESUMO

Anaerobic digestion is achieved through cooperation among various types of microorganisms, and the regulation of microbial communities is key to achieving stable system operation. In this study, the r/K selection theory was adopted to examine the system performance and microbial characteristics in anaerobic reactors with different operating modes (continuous-flow reactors, CFRs; sequencing batch reactors, SBRs) and sludge retention times (25 and 10 days). Four lab-scale reactors (CFR25d, CFR10d, SBR25d, and SBR10d) were operated. In the cycle reaction, CFR25d achieved the highest methane yield (678.0 mL/L) and methane production rate (140.8 mL/(L·h)); while those in CFR10d were the lowest, which could have been due to an accumulation of volatile fatty acids. CFR could wash out r-strategists efficiently, such as Methanosarcina. CFR25d and CFR10d significantly enriched the K-strategist Geobacter, with the relative abundances of 34.0% and 72.6%, respectively. In addition, the hydrogenotrophic methanogens of Methanolinea and Methanospirillum (K-strategists) dominated in CFR25d and CFR10d. Methanobacterium adapted to the diverse operational conditions, but the slow grower Methanosaeta only accounted for 0.9% in CFR10d. Failure to enrich propionate oxidizers resulted in a functional absence of propionate degradation in the CFRs.


Assuntos
Reatores Biológicos , Metano , Anaerobiose , Methanosarcina , Esgotos
17.
Thorac Cardiovasc Surg ; 69(5): 470-474, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33260236

RESUMO

BACKGROUND: At present, the coronavirus disease 2019 (COVID-19) is spreading all over the world. The occurrence of spontaneous pneumothorax in these patients might be higher than the fact, and we should pay high clinical attention to them. METHOD: Data regarding clinical investigation, laboratory investigation, diagnosis, and treatment measures of 21 COVID-19 patients with spontaneous pneumothorax from January to March of 2020 were collected and analyzed in this study. RESULTS: Seven patients had a history of basic lung diseases. All patients used different methods of oxygen therapy before the occurrence of spontaneous pneumothorax according to the severity of the COVID-19, including 18 patients with ventilator-assisted breathing, 2 patients with bilevel positive airway pressure assisted breathing, and 1 patient with mask oxygen inhalation. All patients were confirmed cases of COVID-19 by chest CT (computed tomography) and virus nucleic acid detection and were found to have spontaneous pneumothorax through physical examination, bedside X-ray, and/or bedside ultrasound. 13 of 21 patients combined with pleural effusion at the same time. All the patients underwent closed thoracic drainage for spontaneous pneumothorax and the pleural effusion, if any. Nine patients died, and 12 patients recovered smoothly. CONCLUSION: Spontaneous pneumothorax might be an overlooked complication of COVID-19 patients and may be associated with poor prognosis.


Assuntos
COVID-19/complicações , Pulmão/diagnóstico por imagem , Pneumotórax/etiologia , Tomografia Computadorizada por Raios X/métodos , COVID-19/diagnóstico , COVID-19/epidemiologia , Tubos Torácicos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Pneumotórax/diagnóstico , Prognóstico , Estudos Retrospectivos , SARS-CoV-2
18.
Int J Syst Evol Microbiol ; 70(12): 6450-6457, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33174834

RESUMO

A novel Gram-stain-positive, yellow, short-rod-shaped or coccoid bacterial strain, W204T, was isolated from a soil sample collected from Jiadengyu national forest park in China and characterized using a polyphasic approach. The cell-wall peptidoglycan contained ornithine as the diagnostic diamino acid. 16S rRNA gene sequence analysis indicated that strain W204T was closely related to Ornithinimicrobium flavum CPCC 203535T (97.4 %, similarity), Serinicoccus profundi CGMCC 4.5582T (96.9 %), Serinicoccus sediminis GP-T3-3T (96.8 %), Serinicoccus hydrothermalis JLT9T (96.7 %), Ornithinimicrobium cerasi CPCC 203383T (96.6 %) and Ornithinimicrobium kibberense K22-20T (96.6 %). However, the digital DNA-DNA genome hybridization value between strain W204T and the closest related strain O. flavum CPCC 203535T was 21.90 %. Complete genome analyses revealed that the size of the genome was 3.54 Mb and the genomic DNA G+C content was 70.79 mol%. The polar lipid profile consisted of diphosphatidylglycerol, phosphatidylglycerol, phosphatidylcholine, an unidentified glycolipid, an unidentified phospholipid and an unidentified lipid. The major menaquinone was MK-8(H4). The predominant cellular fatty acids were iso-C15 : 0, anteiso-C15 : 0 and C16 : 0. The phenotypic, chemotaxonomic and phylogenetic data suggested that strain W204T should be classified as representative of a novel species of the genus Ornithinimicrobium, for which the name Ornithinimicrobium pratense sp. nov. is proposed. The type strain is W204T (=GDMCC 1.1391T=KCTC 49237T).


Assuntos
Actinobacteria/classificação , Actinobacteria/isolamento & purificação , Pradaria , Filogenia , Microbiologia do Solo , Técnicas de Tipagem Bacteriana , Composição de Bases , China , DNA Bacteriano/genética , Ácidos Graxos/química , Hibridização de Ácido Nucleico , Ornitina/química , Peptidoglicano/química , Fosfolipídeos/química , Pigmentação , RNA Ribossômico 16S/genética , Análise de Sequência de DNA , Vitamina K 2/análogos & derivados , Vitamina K 2/química
19.
J Cell Mol Med ; 24(7): 3822-3836, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32125766

RESUMO

Hepatocellular carcinoma (HCC) is a main cause of cancer-related deaths globally. Long non-coding RNAs (lncRNAs) play important roles in diverse cancers. Our previous microarray-based lncRNA profiling showed that LINC00467 was highly expressed in HCC. Here, we further explored the expression, role and functional mechanism of lncRNA LINC00467 in HCC. Our findings revealed that LINC00467 was up-regulated in HCC tissues and HCC cell lines. Increased expression of LINC00467 was positively associated with tumour size and vascular invasion. In vitro functional experiments revealed that LINC00467 accelerated HCC cell proliferation, cell cycle progression and migration and reduced HCC cell apoptosis. In vivo functional assays revealed that LINC00467 drove HCC xenograft growth and HCC cell proliferation and repressed HCC cell apoptosis in vivo. Moreover, LINC00467 inhibited NR4A3 post-transcriptionally via interacting with NR4A3 mRNA to form double-stranded RNA, which was further degraded by Dicer. The expression of NR4A3 was inversely associated with LINC00467 in HCC tissues. Functional rescue assays found that restore of NR4A3 expression blocked the oncogenic roles of LINC00467 in HCC. Taken together, our results demonstrated that lncRNA LINC00467 was a novel highly expressed and oncogenic lncRNA in HCC via inhibiting NR4A3. Targeting LINC00467 or enhancing NR4A3 may be potential therapeutic strategies against HCC.


Assuntos
Carcinoma Hepatocelular/genética , Proteínas de Ligação a DNA/genética , Neoplasias Hepáticas/genética , RNA Longo não Codificante/genética , Receptores de Esteroides/genética , Receptores dos Hormônios Tireóideos/genética , Idoso , Apoptose/genética , Carcinoma Hepatocelular/patologia , Linhagem Celular Tumoral , Movimento Celular/genética , Proliferação de Células/genética , Progressão da Doença , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Hepáticas/patologia , Masculino , Pessoa de Meia-Idade
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 116-122, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034734

RESUMO

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for 90 families affected with spinal muscular atrophy (SMA), and discuss the necessity for carrier screening. METHODS: All families were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis. Combined MLPA and allele-specific PCR (AS-PCR) was used for prenatal diagnosis of the pregnant women. RESULTS: Among the 90 couples, 84 (93%) had a negative family history, 85 (94%) had given birth to an affected child before. Eighty-five husbands and 88 wives carried heterozygous deletion of exon 7 of the SMN1 gene. Two wives had homozygous deletion of exon 7 of the SMN1 gene and were affected. Prenatal diagnosis showed that 19 fetuses were SMA patients, 48 fetuses were carriers, and 23 fetuses were normal. Of note, eighteen affected fetuses were conceived by couples without a family history, which accounted for 20% of all pregnancies and 95% of all affected fetuses. CONCLUSION: To screen SMA carriers using MLPA and carry out prenatal diagnosis using combined MLPA and AS-PCR can ensure accurate diagnosis, which has a significant value for the prevention of SMA affected births.


Assuntos
Atrofia Muscular Espinal , Feminino , Testes Genéticos , Homozigoto , Humanos , Atrofia Muscular Espinal/genética , Gravidez , Diagnóstico Pré-Natal , Deleção de Sequência , Proteína 1 de Sobrevivência do Neurônio Motor
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