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1.
Rapid Commun Mass Spectrom ; 38(9): e9723, 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38504484

RESUMO

RATIONALE: Hypercholesterolemia is an important risk factor for cardiovascular diseases and death. This study performed pseudo-targeted lipidomics to identify differentially expressed plasma lipids in hypercholesterolemia, to provide a scientific basis for the diagnosis and pathogenesis of hypercholesterolemia. METHODS: Pseudo-targeted lipidomic analyses of plasma lipids from 20 patients with hypercholesterolemia and 20 normal control subjects were performed using liquid chromatography-mass spectrometry. Differentially expressed lipids were identified by principal component analysis and orthogonal partial least squares discriminant analysis. Receiver operating characteristic curves were used to identify differentially expressed lipids with high diagnostic value. The Kyoto Encyclopedia of Genes and Genomes pathway database was used to identify enriched metabolic pathways. RESULTS: We identified 13 differentially expressed lipids in hypercholesterolemia using variable importance of projection > 1 and p < 0.05 as threshold parameters. The levels of eight sphingomyelins and cholesterol sulfate were higher and those of three triacylglycerols and lysophosphatidylcholine were reduced in hypercholesterolemia. Seven differentially expressed plasma lipids showed high diagnostic value for hypercholesterolemia. Functional enrichment analyses showed that pathways related to necroptosis, sphingolipid signaling, sphingolipid metabolism, and steroid hormone biosynthesis were enriched. CONCLUSIONS: This pseudo-targeted lipidomics study demonstrated that multiple sphingomyelins and cholesterol sulfate were differentially expressed in the plasma of patients with hypercholesterolemia. We also identified seven plasma lipids, including six sphingomyelins and cholesterol sulfate, with high diagnostic value.


Assuntos
Hipercolesterolemia , Lipidômica , Humanos , Lipidômica/métodos , Hipercolesterolemia/diagnóstico , Esfingomielinas , Triglicerídeos , Biomarcadores
2.
Biochem Genet ; 60(2): 527-542, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34304316

RESUMO

The Cashmere goat (Capra hircus) is renowned for its high-quality fiber production trait. The hair cycle in Cashmere goat has an annual rhythm. To deepen the understanding of the molecular foundation of annual rhythm in the skin of Cashmere goat, we did a comparative analysis of the Cashmere goat skin transcriptome all year round. 4002 Differentially expressed genes (DEGs) were identified with seasonal variations. 12 months transcriptome were divided into four developmental stages: Jan-Mar, Apr-Jul, Aug-Oct, and Nov-Dec based on gene expression patterns. 13 modules of highly correlated genes in skin were identified using WGCNA. Ten of these modules were consistent with the development stages. The gene function of those genes in each module was analyzed by functional enrichment. The results indicated that Wnt and Hedgehog signaling pathways were inhibited from January to March and activated from April to July. The cutaneous immune system of Cashmere goats has high activity from August to October. Fatty acid metabolism dominates goat skin from November to December. This study provides new information related to the annual skin development cycle, which could provide molecular biological significance for understanding the seasonal development and response to the annual rhythm of skin.


Assuntos
Cabras , Folículo Piloso , Animais , Cabras/genética , Folículo Piloso/metabolismo , Proteínas Hedgehog/genética , Proteínas Hedgehog/metabolismo , Estações do Ano , Transcriptoma
3.
Rapid Commun Mass Spectrom ; 35(3): e8993, 2021 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-33140498

RESUMO

RATIONALE: Treatment of immune thrombocytopenia (ITP) usually involves long-term use of immunosuppressive corticosteroids and splenectomy. However, these treatments often have side effects in patients. The Mongolian medicine Qishunbaolier (QSBLE) has a high curative effect, reduces the chances of relapse, and has no obvious side effects. This study was designed to identify potential therapeutic targets of QSBLE for treating ITP. METHODS: To reveal differences in protein expression between ITP patients (ITPs) before and after QSBLE treatment, comparative proteomics studies were performed using isobaric tags for relative and absolute quantification (iTRAQ). The analysis used nanospray liquid chromatography/tandem mass spectrometry (nano-LC/MS/MS) in positive ion electrospray ionization mode. Key proteins relevant to ITP were revealed by the Kyoto Encyclopedia of Genes and Genomes (KEGG) and other bioinformatics tools. Real-time polymerase chain reaction (RT-PCR) analysis was carried out for confirmation of differentially expressed proteins. RESULTS: A total of 982 differentially expressed proteins were identified in ITPs compared with the controls. Compared with the pre-QSBLE treatment group, 61 differentially expressed proteins were identified in the post-QSBLE treatment group, with 48 proteins being significantly upregulated and 13 downregulated. Twenty-nine pathways were significantly enriched. Q6N030 and other proteins were the key players in the protein-pathway network. Twenty proteins that may play important roles in the treatment of ITP were further filtered. RT-PCR and Western blot analyses further confirmed that MIF, PGK1 and IGHM were upregulated in ITPs after QSBLE treatment, in accordance with the proteomics data. CONCLUSIONS: It is believed that the identified proteins and the results of bioinformatics analysis will provide a potential therapeutic target site for QSBLE for ITP therapy and biomarkers.


Assuntos
Medicamentos de Ervas Chinesas/administração & dosagem , Extratos Vegetais/administração & dosagem , Preparações de Plantas/administração & dosagem , Proteômica/métodos , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Púrpura Trombocitopênica Idiopática/genética , Adulto , Biomarcadores/metabolismo , Cromatografia Líquida/métodos , Biologia Computacional , Feminino , Humanos , Masculino , Proteínas/genética , Proteínas/metabolismo , Púrpura Trombocitopênica Idiopática/metabolismo , Espectrometria de Massas em Tandem/métodos
4.
J Clin Lab Anal ; 34(5): e23207, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31976596

RESUMO

BACKGROUND: GLOBOCAN 2018 latest data show cervical cancer ranks fourth in morbidity and mortality among women. Many genes in cervical lesions differ in sensitivity and specificity. However, the diagnostic molecules for early cervical cancer are not very clear. This paper screens biomarkers for early molecular diagnosis of Mongolian patients with cervical cancer. METHODS: Immunohistochemical SP method was used to detect the expression of p16INK4a and Notch1 protein in paraffin sections of 226 Mongolian patients with HPV16-positive cervical lesions after pathological examination, and 100 of them were randomly selected by fluorescence in situ hybridization to detect hTERC gene. The HPV16-binding human cervical cancer SiHa cell line was used to silence the expression of HPV16 E6/E7 gene by RNA interference, and the expression of p16INK4a , Notch1, and hTERC genes and protein expression levels were detected by RT-PCR and Western blot. RESULTS: The positive expression rates of p16INK4a , Notch1, and hTERC genes in HPV16-positive cervical cancer, CIN-III, CIN-II, CIN-I, uterine leiomyoma, and chronic cervicitis were significantly different (P < .05); the positive expression rates of the three genes were also significantly different in the same type of cervical lesions (P < .05); RNA interference can effectively inhibit HPV16 E6/E7, p16INK4a and Notch1 gene expression, but has no effect on hTERC gene expression. CONCLUSION: The p16INK4a gene can be used as a biomarker for early screening of cervical cancer, and the hTERC gene can be used to confirm the clinical diagnosis of cervical cancer.


Assuntos
Inibidor p16 de Quinase Dependente de Ciclina/genética , Infecções por Papillomavirus/patologia , RNA/genética , Receptor Notch1/genética , Telomerase/genética , Neoplasias do Colo do Útero/virologia , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Feminino , Regulação Neoplásica da Expressão Gênica , Papillomavirus Humano 16/patogenicidade , Humanos , Proteínas Oncogênicas Virais/genética , Proteínas E7 de Papillomavirus/genética , Infecções por Papillomavirus/genética , Infecções por Papillomavirus/virologia , Receptor Notch1/metabolismo , Proteínas Repressoras/genética , Neoplasias do Colo do Útero/genética , Neoplasias do Colo do Útero/patologia
5.
BMC Med Genet ; 20(1): 43, 2019 03 20.
Artigo em Inglês | MEDLINE | ID: mdl-30894143

RESUMO

BACKGROUND: To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagnosis of this disease. METHODS: Family data were collected to draw a pedigree. Audiological testing and physical examination of the family members were conducted following questionnaire. Genomic DNA was extracted from peripheral blood of 5 family members (3 patients and 2 normal control) and subjected to whole genome sequencing for identifying deafness casual genes. The pathogenic variant in the deafness gene was further confirmed by Sanger sequencing. RESULTS: The family is composed of a total of 6 generations, with 53 traceable individuals. In this family,19 of them were diagnosed with post lingual deafness with the age of onset between 10 and 40 years, displaying delayed and progressive hearing loss. Patients with hearing loss showed bilateral symmetry and mild to severe sensorineural deafness. The pattern of deafness inheritance in this family is autosomal dominant. Whole genome sequencing identified a novel pathogenic frameshift mutation, c.158_159delAA (p.Gln53Arg fs*100) in the gene OSBPL2 (Oxysterol-binding protein-related protein 2, NM_144498.2), which is absent from genomic data of 201 unrelated normal subjects. This pathogenic variant was further validated by Sanger sequencing, and was found to co-segregate in this family. CONCLUSIONS: Whole genome sequencing identified a two-nucleotide deletion in OSBPL2 (c.158_159delAA) as the pathogenic variant for deafness in the family. Our finding expands the mutational spectrum of OSBPL2 and contributes to the pathogenic variant list in genetic counseling for deafness screening.


Assuntos
Mutação da Fase de Leitura , Perda Auditiva/congênito , Perda Auditiva/genética , Receptores de Esteroides/genética , Sequenciamento Completo do Genoma/métodos , Adulto , Idade de Início , Povo Asiático/genética , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Mongólia , Linhagem , Fenótipo
6.
Nano Lett ; 17(1): 429-436, 2017 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-28026184

RESUMO

Layered α-Ni(OH)2 and its derivative bimetallic hydroxides (e.g., α-(Ni/Co)(OH)2) have attracted much attention due to their high specific capacitance, although their insufficient cycling stability has blocked their wide application in various technologies. In this work, we demonstrate that the cycling performance of α-(Ni/Co)(OH)2 can be obviously enhanced via the intrinsic pillar effect of metaborate. Combining the high porosity feature of the metaborate stabilized α-(Ni/Co)(OH)2 and the improved electronic conductivity offered by graphene substrate, the average capacitance fading rate of the metaborate stabilized α-(Ni/Co)(OH)2 is only ∼0.0017% per cycle within 10 000 cycles at the current density of 5 A g-1. The rate performance is excellent over a wide temperature range from -20 to 40 °C. We believe that the enhancements should mainly be ascribed to the excellent structural stability offered by the metaborate pillars, and the detailed mechanism is discussed.

7.
Appl Microbiol Biotechnol ; 100(15): 6643-6652, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26883344

RESUMO

Angiogenesis provides necessary nutrients and oxygen for tumor growth and metastasis; thus, every stage of angiogenesis process is the potential target for cancer therapies. Ursolic acid (UA) is reported to decrease tumor burden through anti-angiogenesis pathway, but its poor water solubility greatly limits its efficiency and clinical application. Here, a simple method for preparing UA-loaded chitosan nanoparticles (CH-UA-NPs) with anti-angiogenesis and anti-tumor activity was demonstrated. In vitro, CH-UA-NPs could significantly inhibit the proliferation, migration, and tube formation of human umbilical vascular endothelial cells (HUVECs). After uptake by HUVECs, CH-UA-NPs were mainly localized in lysosomes and mitochondria, but not nuclei. CH-UA-NPs induced the destruction of lysosome membrane integrity, collapse of mitochondrial membrane potential, and reorganization of cell cytoskeleton. All these changes led to the apoptosis or necrosis in HUVECs. In vivo, CH-UA-NPs could inhibit the angiogenesis in chicken chorioallantoic membrane (CAM) model and H22 xenograft model. Notably, comparing with free UA, such synthesized CH-UA-NPs could save about tenfold of UA doses, implying that this could significantly decrease the side effects induced by high doses of UA in biological organism. Our data showed that CH-UA-NPs and this nanoparticle-based drug delivery system could be as a potential drug candidate for anti-angiogenesis treatment.


Assuntos
Inibidores da Angiogênese/farmacologia , Quitosana/química , Membrana Corioalantoide/irrigação sanguínea , Portadores de Fármacos/química , Nanopartículas/química , Neovascularização Patológica/prevenção & controle , Triterpenos/farmacologia , Animais , Apoptose/efeitos dos fármacos , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Embrião de Galinha , Células Endoteliais da Veia Umbilical Humana/metabolismo , Humanos , Potencial da Membrana Mitocondrial/efeitos dos fármacos , Camundongos , Camundongos Endogâmicos BALB C , Mitocôndrias/metabolismo , Neovascularização Patológica/tratamento farmacológico , Triterpenos/química , Cicatrização/efeitos dos fármacos , Ensaios Antitumorais Modelo de Xenoenxerto , Ácido Ursólico
8.
Anal Chem ; 87(9): 4797-805, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25851113

RESUMO

Quartz crystal microbalance with dissipation (QCM-D) monitoring was used for real-time and label-free detection of changes and folate receptor (FR) expression levels on living MCF-7 cells for evaluating the anticancer activity of resveratrol. Here, the mechanical changes of cellular responses to resveratrol were tracked by a poly(l-lysine) (PLL) modified QCM-D sensor, and the inhibition effect of resveratrol on FR expression levels on MCF-7 cells was monitored by chitosan-folic acid (CS-FA) composite membrane functionalized Au substrate for the first time. Changes in morphology and the cellular state of MCF-7 cells stimulated by resveratrol at different concentrations were detected by inverted fluorescence microscopy and flow cytometry. Atomic force microscopy confirmed that resveratrol influenced the cellular mechanical properties. The results indicated that the MCF-7 cells lose their original elasticity and increase their stiffness induced by resveratrol. It was further observed by confocal fluorescence imaging that resveratrol reduced the FR expression levels on the living cells surface. This study established a typical model of the QCM-D biosensor to evaluate the protein biomarker expression levels on the cells surface. QCM-D, which was used to investigate potential targets for an antitumor drug on living cells and realize a better understanding of the drug action mechanism, was expected to be developed into a promising tool for the screening of drugs.


Assuntos
Técnicas Biossensoriais , Ensaios de Seleção de Medicamentos Antitumorais , Receptores de Folato com Âncoras de GPI/biossíntese , Modelos Biológicos , Técnicas de Microbalança de Cristal de Quartzo , Estilbenos/farmacologia , Apoptose/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular , Relação Dose-Resposta a Droga , Citometria de Fluxo , Receptores de Folato com Âncoras de GPI/antagonistas & inibidores , Humanos , Células MCF-7 , Microscopia de Fluorescência , Resveratrol , Relação Estrutura-Atividade
10.
BMC Med Genet ; 15: 34, 2014 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-25008054

RESUMO

BACKGROUND: The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have documented the clinical phenotype and genetic basis of autosomal dominant nonsyndromic hearing loss in Mongolians. METHODS: In this study, we performed exon capture sequencing of a Mongolian family with hereditary hearing loss and identified a novel mutation in TECTA gene, which encodes α -tectorin, a major component of the inner ear extracellular matrix that contacts the specialized sensory hair cells. RESULTS: The novel G → T missense mutation at nucleotide 6016 results in a substitution of amino acid aspartate at 2006 with tyrosine (Asp2006Tyr) in a highly conserved zona pellucida (ZP) domain of α-tectorin. The mutation is not found in control subjects from the same family with normal hearing and a genotype-phenotype correlation is observed. CONCLUSION: A novel missense mutation c.6016 G > T (p.Asp2006Tyr) of TECTA gene is a characteristic TECTA-related mutation which causes autosomal dominant nonsyndromic hearing loss. Our result indicated that mutation in TECTA gene is responsible for the hearing loss in this Mongolian family.


Assuntos
Proteínas da Matriz Extracelular/genética , Genes Dominantes , Perda Auditiva/genética , Mutação , Adolescente , Adulto , Idoso , Sequência de Aminoácidos , Audiometria , Criança , Pré-Escolar , China , Análise Mutacional de DNA , Proteínas da Matriz Extracelular/química , Feminino , Proteínas Ligadas por GPI/química , Proteínas Ligadas por GPI/genética , Estudos de Associação Genética , Perda Auditiva/diagnóstico , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Alinhamento de Sequência , Adulto Jovem
11.
Analyst ; 139(23): 6259-65, 2014 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-25313373

RESUMO

A highly sensitive and recyclable quartz crystal microbalance (QCM) biosensor was developed using chitosan (CS) and folic acid (FA), generating conjugates that are selectively recognized by MCF-7 cancer cell over-expressed folic acid receptors. The prepared CS-FA conjugate was characterized by UV-vis spectroscopy and Fourier transform infrared spectroscopy. Atomic force microscopy and scanning electron microscopy further presented the morphology of the CS-FA conjugate interface. The hydrophilicity of films was characterized by measuring the contact angle. The recognition of MCF-7 cancer cells was investigated in situ using QCM. Captured by FA, the concentration of the MCF-7 cell was determined on-line using a quartz crystal microbalance and a wide linear range of 4.5 × 10(2) to 1.01 × 10(5) cells per mL was obtained, with a detection limit of 430 cells per mL. The fluorescence microscope further confirmed the specificity and biocompatibility of the constructed biosensor. In addition, the regeneration of the QCM biosensor was studied by using lysozyme. This receptor-bound ligand based QCM biosensor also showed good selectivity, and repeatability in the cell mixture. For the first time, this simple, economical and label-free chitosan-based QCM sensing was demonstrated, and such design could provide a promising detection strategy for sensitive detection of cancer cell over-expressed folic acid receptors.


Assuntos
Técnicas Biossensoriais/instrumentação , Neoplasias da Mama/diagnóstico , Quitosana/química , Técnicas de Microbalança de Cristal de Quartzo , Técnicas Biossensoriais/métodos , Células Endoteliais , Células Epiteliais , Feminino , Humanos , Células MCF-7 , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Espectroscopia de Infravermelho com Transformada de Fourier
12.
Bioorg Med Chem Lett ; 23(20): 5544-51, 2013 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-24007917

RESUMO

Chrysin (5,7-dihydroxylflavone, Chry) is a natural product extracted from plants, honey, and propolis. In this work, a novel chrysin-organogermanium(IV) complex (Chry-Ge) with enhanced anticancer activities was synthesized, and its potential anticancer effects against cancer cells were measured using various methods. MTT results showed that Chry-Ge had significant inhibition effects on the proliferation of MCF-7, HepG2 and Colo205 human cancer cell lines in a dose-dependent manner while had little cytotoxic effects on MCF-10A human normal cells (MCF-10A cells) with the same treatment of Chry-Ge. These results suggested that Chry-Ge possessed enhanced anticancer effects and high selectivity between cancer cells and normal cells. The immuno-staining results showed that the nuclei of MCF-7 cells represented a total fragmented morphology and a disorganized cytoskeletal network in MCF-7 cells after Chry-Ge treatment. Besides, atomic force microscopy (AFM) was applied to detect the changes of ultrastructural and biomechanical properties of MCF-7 cellular membrane induced by Chry-Ge. The AFM data indicated that Chry-Ge treatment directly caused the decrease of cell rigidity and adhesion force of MCF-7 cells, suggesting that membrane toxicity might be one of the targets for Chry-Ge in MCF-7 cells. Moreover, the fluorescence-based flow cytometric analysis demonstrated that Chry-Ge could induce apoptosis in MCF-7 cells in ROS-dependent mitochondrial pathway. All results collectively showed that Chry-Ge could be as a promising anticancer drug for cancer therapy.


Assuntos
Antineoplásicos/química , Complexos de Coordenação/química , Flavonoides/química , Germânio/química , Antineoplásicos/síntese química , Antineoplásicos/toxicidade , Apoptose/efeitos dos fármacos , Caspases/metabolismo , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Complexos de Coordenação/síntese química , Complexos de Coordenação/toxicidade , Pontos de Checagem da Fase G2 do Ciclo Celular/efeitos dos fármacos , Células Hep G2 , Humanos , Células MCF-7 , Metaloproteinases da Matriz/metabolismo , Microscopia de Força Atômica , Espécies Reativas de Oxigênio/metabolismo
13.
Sci Total Environ ; 872: 162144, 2023 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-36773915

RESUMO

The frequent occurrence of extreme climate events has become an indisputable fact. However, the role of adaptation to extreme climate change in the development of livestock husbandry is still insufficiently understood. This study empirically analyzed the impact of herders' adaptation strategies to extreme drought on livestock husbandry development and aimed to explore the optimal grassland management path under continuous climate change. A panel dataset of surveyed herders from the Xilingol League, a traditional pastoral area in China, was used. The results indicated that the average frequency of extreme drought in the Xilingol League from 1980 to 2020 was 4.94 months/year, and the occurrence of extreme drought showed a slightly upward trend. The average technical efficiency of livestock husbandry was 0.721, which can still be improved. Hay purchases can effectively promote livestock technical efficiency (p<0.01) and is the main adaptation strategy of herders to extreme drought. Further analysis showed that non-farming and pastoral employment has a positive regulatory effect in the impact of purchased hay on livestock technical efficiency. The results of this study deepen the understanding of effective adaptation to extreme weather events in pastoral areas due to climate change and provide useful information to policymakers engaged in grassland management.


Assuntos
Criação de Animais Domésticos , Mudança Climática , Animais , Adaptação Fisiológica , Secas , Aclimatação , Gado
14.
Artigo em Inglês | MEDLINE | ID: mdl-35769162

RESUMO

Andai therapy is a traditional therapy combining body, mind, and language with Mongolian characteristics. In the form of singing and dancing, it is widely popular among people of all ages in Mongolian areas of Inner Mongolia. According to Mongolian medicine, Heyi is one of the three elements of human body, and it can maintain life activities, promote blood circulation, and improve the functions of the sensory and mental consciousness. Andai therapy stimulates the whole body nerves and Heyi through music and dance, improves Heyi and blood operation, strengthens physique, improves immunity, effectively promotes physical and mental health, and plays a role in preventing and treating diseases. Objective. In this study, gas chromatography-mass spectrometry (GC-MS) was used to explore the mechanism of Andai therapy, so as to provide a new research direction for taking targeted prevention and treatment measures for diseases. Methods. Using gas chromatography-mass spectrometry (GC-MS) on all its cases baseline plasma to the targeted metabonomics testing, the differential metabolites of the experimental group (receiving Andai therapy) and control group (without receiving Andai therapy), analysis-related metabolite function, and screening of metabolites and related pathways through adjusting mechanism to explore the related factors are compared, to study the mechanism of the influence of Mongolian medical Andai therapy on the metabolism of different healthy people. Results. The differences in metabolic numbers between the experimental group and the control group are 114, such as cyclohexylamine chlorinated acid, 2,4-2 aminobutyric acid bitter almond alcohol, l-methyl inosine, 2-picolinate, and 2-hydroxy-2-glutaric acid metabolite content of the control group that are significantly higher than the experimental group, experimental group's other substance content is significantly higher than that of the control group, and two groups' metabolite content was obviously different. The number of differential metabolites between the female experimental group and the female control group was 119, and the number of differential metabolites between the male experimental group and the male control group was 48.

15.
Front Genet ; 13: 993492, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36204317

RESUMO

Background: Observational research has shown a correlation between inflammatory bowel disease (IBD) [comprising ulcerative colitis (UC) and Crohn's disease (CD)] and celiac disease. However, the relationship between these two diseases remains uncertain. Methods: We utilized two-sample Mendelian randomization (MR) to estimate the bidirectional causal relationships between IBD and celiac disease. This study utilized data on single nucleotide polymorphisms (SNPs) from genome-wide association studies (GWASs). Heterogeneity, pleiotropy, and sensitivity analyses were also performed to evaluate the MR results. Results: There was a significant causal relationship between IBD and CD and celiac disease (e.g., IBD and celiac disease, inverse variance weighting (IVW) odds ratio (OR) = 1.0828, 95% CI = 1.0258-1.1428, p = 0.0039; CD and celiac disease, IVW OR = 1.0807, 95% CI = 1.0227-1.1420, p = 0.0058). However, in the reverse direction, we found only suggestive positive causality between celiac disease and CD (e.g., IVW OR = 1.0366, 95% CI = 1.0031-1.0711, p = 0.0319). No evidence of heterogeneity between genetic variants was found (e.g., IBD vs. celiac disease, MR-Egger Q = 47.4391, p = 0.6159). Horizontal pleiotropy hardly influenced causality (e.g., IBD vs. celiac disease, MR-Egger test: p = 0.4340). Leave-one-out analysis showed that individual SNPs did not influence the general results. Conclusion: Our MR analysis revealed a positive causal link between IBD and celiac disease in the European population. In addition, several recommendations for disease prevention and clinical management have been discussed.

16.
Appl Bionics Biomech ; 2022: 6410103, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35694277

RESUMO

This research was aimed at exploring the diagnostic and screening effect of composite echocardiography based on the artificial intelligence (AI) segmentation algorithm on fetal congenital heart disease (CHD) during pregnancy, so as to reduce the birth rate of newborns with CHD. A total of 204 fetuses with abnormal heart conditions were divided into group II, group C (optimized with the AI algorithm), and group W (not optimized with the AI algorithm). In addition, 9,453 fetuses with normal heart conditions were included in group I. The abnormal distribution of fetal heart and the difference of cardiac Z score between group II and group I were analyzed, and the diagnostic value of group C and group W for CHD was compared. The results showed that the segmentation details of the proposed algorithm were better than those of the convolutional neural network (CNN), and the Dice coefficient, precision, and recall values were higher than those of the CNN. In fetal CHD, the incidence of abnormal ultrasonic manifestations was ventricular septal defect (98/48.04%), abnormal right subclavian artery (29/14.22%), and persistent left superior vena cava (25/12.25%). The diagnostic sensitivity (75.0% vs. 51.5%), specificity (99.6% vs. 99.2%), accuracy (99.0% vs. 98.2%), negative predictive value (88.5% vs. 78.5%), and positive predictive value (99% vs. 57.7%) of echocardiography segmentation in group C were significantly higher than those in group W. To sum up, echocardiography segmented by the AI algorithm could obviously improve the diagnostic efficiency of fetal CHD during gestation. Cardiac ultrasound parameters of children with CHD changed greatly.

17.
Aging Dis ; 13(4): 1030-1041, 2022 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-35855342

RESUMO

Mongolian medical warm acupuncture is a traditional therapy of Mongolian medicine and was developed by people living on the Mongolian Plateau. This kind of traditional oriental medicine has a long history. The main characteristics of Mongolian medical warm acupuncture are the acupoints and the needles used. Its theory is based on the human anatomical structure and the distinct local culture. Mongolian medical warm acupuncture has been practiced for centuries and proved to be very effective in the treatment of age-related diseases, including the musculoskeletal and nervous diseases. This paper aims to briefly introduce the history and scope of Mongolian medical warm acupuncture, with a particular focus on age-related diseases, where Mongolian medical warm acupuncture has shown significant beneficial effects.

18.
BMC Med Genet ; 11: 23, 2010 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-20146806

RESUMO

BACKGROUND: Several studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II) may be caused by mutations in dentin sialophosphoprotein (DSPP). However, no previous studies have documented the clinical phenotype and genetic basis of DGI-II in a Mongolian family from China. METHODS: We identified a large five-generation Mongolian family from China with DGI-II, comprising 64 living family members of whom 22 were affected. Linkage analysis of five polymorphic markers flanking DSPP gene was used to genotype the families and to construct the haplotypes of these families. All five DSPP exons including the intron-exon boundaries were PCR-amplified and sequenced in 48 members of this large family. RESULTS: All affected individuals showed discoloration and severe attrition of their teeth, with obliterated pulp chambers and without progressive high frequency hearing loss or skeletal abnormalities. No recombination was found at five polymorphic markers flanking DSPP in the family. Direct DNA sequencing identified a novel A-->G transition mutation adjacent to the donor splicing site within intron 3 in all affected individuals but not in the unaffected family members and 50 unrelated Mongolian individuals. CONCLUSION: This study identified a novel mutation (IVS3+3A-->G) in DSPP, which caused DGI-II in a large Mongolian family. This expands the spectrum of mutations leading to DGI-II.


Assuntos
Dentinogênese Imperfeita/genética , Proteínas da Matriz Extracelular/genética , Fosfoproteínas/genética , Sialoglicoproteínas/genética , Povo Asiático/genética , Feminino , Haplótipos , Humanos , Masculino , Mongólia , Mutação , Linhagem , Fenótipo , Splicing de RNA , Análise de Sequência de DNA , Anormalidades Dentárias
19.
Ying Yong Sheng Tai Xue Bao ; 31(4): 1233-1240, 2020 Apr.
Artigo em Zh | MEDLINE | ID: mdl-32530198

RESUMO

Grassland is an important type of terrestrial ecosystem. Using remote sensing technology to study the change and driving force of native grassland productivity at large scale is an important way to understand the ecological status of grassland. In this study, potential and actual net primary productivity (NPP) of Xilingol steppe from 2000 to 2018 were examined based on climatic model and light-use efficiency model, respectively. NPP damage value driven by human activities was calculated from the difference between potential and actual NPP. The least square method was used to analyze the temporal and spatial variation of NPP in Xilingol and the driving role of climate and human activities on NPP. The results showed that NPP in Xilingol increased from west to east, with mean annual NPP being 271.54 g C·m-2·a-1, the area with increased NPP (grassland restoration) being 36500 km2, and the area with decreased NPP (grassland degradation) being 59900 km2. The potential NPP tended to rise under the driving force of temperature and precipitation, with an average annual increase of 6.5 g C·m-2·a-1, which indicated that regional climate played a positive role in the improvement of NPP in Xilingol steppe, and that human activities were the main driving force for grassland degradation. The value of NPP damage driven by human activities decreased from east to west and from south to north, with the highest value in Wuzhumuqin meadow and southern steppe. Human activities, such as mining and reclamation, had the most obvious negative impact on grassland NPP.


Assuntos
Ecossistema , Pradaria , China , Mudança Climática , Atividades Humanas , Humanos , Modelos Teóricos , Tecnologia de Sensoriamento Remoto
20.
Nat Genet ; 50(12): 1696-1704, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30397334

RESUMO

The genetic variation in Northern Asian populations is currently undersampled. To address this, we generated a new genetic variation reference panel by whole-genome sequencing of 175 ethnic Mongolians, representing six tribes. The cataloged variation in the panel shows strong population stratification among these tribes, which correlates with the diverse demographic histories in the region. Incorporating our results with the 1000 Genomes Project panel identifies derived alleles shared between Finns and Mongolians/Siberians, suggesting that substantial gene flow between northern Eurasian populations has occurred in the past. Furthermore, we highlight that North, East, and Southeast Asian populations are more aligned with each other than these groups are with South Asian and Oceanian populations.


Assuntos
Povo Asiático/etnologia , Povo Asiático/genética , Genética Populacional , América/epidemiologia , Ásia Setentrional/epidemiologia , Povo Asiático/estatística & dados numéricos , Europa (Continente)/epidemiologia , Ásia Oriental/epidemiologia , Feminino , Fluxo Gênico , Genoma Humano , Humanos , Masculino , Mongólia/etnologia , Filogenia , Sequenciamento Completo do Genoma
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