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1.
JAMA Psychiatry ; 2020 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-33263727

RESUMO

Importance: The genetic basis of bipolar disorder (BD) in Han Chinese individuals is not fully understood. Objective: To explore the genetic basis of BD in the Han Chinese population. Design, Setting, and Participants: A genome-wide association study (GWAS), followed by independent replication, was conducted to identify BD risk loci in Han Chinese individuals. Individuals with BD were diagnosed based on DSM-IV criteria and had no history of schizophrenia, mental retardation, or substance dependence; individuals without any personal or family history of mental illnesses, including BD, were included as control participants. In total, discovery samples from 1822 patients and 4650 control participants passed quality control for the GWAS analysis. Replication analyses of samples from 958 patients and 2050 control participants were conducted. Summary statistics from the European Psychiatric Genomics Consortium 2 (PGC2) BD GWAS (20 352 cases and 31 358 controls) were used for the trans-ancestry genetic correlation analysis, polygenetic risk score analysis, and meta-analysis to compare BD genetic risk between Han Chinese and European individuals. The study was performed in February 2020. Main Outcomes and Measures: Single-nucleotide variations with P < 5.00 × 10-8 were considered to show genome-wide significance of statistical association. Results: The Han Chinese discovery GWAS sample included 1822 cases (mean [SD] age, 35.43 [14.12] years; 838 [46%] male) and 4650 controls (mean [SD] age, 27.48 [5.97] years; 2465 [53%] male), and the replication sample included 958 cases (mean [SD] age, 37.82 [15.54] years; 412 [43%] male) and 2050 controls (mean [SD] age, 27.50 [6.00] years; 1189 [58%] male). A novel BD risk locus in Han Chinese individuals was found near the gene encoding transmembrane protein 108 (TMEM108, rs9863544; P = 2.49 × 10-8; odds ratio [OR], 0.650; 95% CI, 0.559-0.756), which is required for dendritic spine development and glutamatergic transmission in the dentate gyrus. Trans-ancestry genetic correlation estimation (ρge = 0.652, SE = 0.106; P = 7.30 × 10-10) and polygenetic risk score analyses (maximum liability-scaled Nagelkerke pseudo R2 = 1.27%; P = 1.30 × 10-19) showed evidence of shared BD genetic risk between Han Chinese and European populations, and meta-analysis identified 2 new GWAS risk loci near VRK2 (rs41335055; P = 4.98 × 10-9; OR, 0.849; 95% CI, 0.804-0.897) and RHEBL1 (rs7969091; P = 3.12 × 10-8; OR, 0.932; 95% CI, 0.909-0.956). Conclusions and Relevance: This GWAS study identified several loci and genes involved in the heritable risk of BD, providing insights into its genetic architecture and biological basis.

3.
Dev Genes Evol ; 2020 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-33244643

RESUMO

Germ cell-specific genes play an important role in establishing the reproductive system in sexual organisms and have been used as valuable markers for studying gametogenesis and sex differentiation. Previously, we isolated a vasa transcript as a germ cell marker to trace the origin and migration of germ cells in the oriental river prawn Macrobrachium nipponense. Here, we identified a new germ cell-specific marker MnTdrd RNA and assessed its temporal and spatial expression during oogenesis and embryogenesis. MnTdrd transcripts were expressed in high abundance in unfertilized eggs and embryos at cleavage stage and then dropped significantly during late embryogenesis, suggesting that MnTdrd mRNA is maternally inherited. In situ hybridization of ovarian tissue showed that MnTdrd mRNA was initially present in the cytoplasm of previtellogenic oocyte and localized to the perinuclear region as the accumulation of yolk in vitellogenic oocyte. Whole-mount in situ hybridization of embryos showed that MnTdrd-positive signals were only localized in one blastomere until 16-cell stage. In the blastula, there were approximately 16 MnTdrd-positive blastomeres. During embryonized-zoea stage, the MnTdrd-positive cells aggregated as a cluster and migrated to the genital rudiment which would develop into primordial germ cells (PGCs). The localized expression pattern of MnTdrd transcripts resembled that of the previously identified germ cell marker vasa, supporting the preformation mode of germ cell specification. Therefore, we concluded that MnTdrd, together with vasa, is a component of the germ plasm and might have critical roles in germ cell formation and differentiation in the prawn. Thus, MnTdrd can be used as a novel germ cell marker to trace the origin and migration of germ cells.

4.
J Alzheimers Dis ; 77(3): 1077-1093, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32804146

RESUMO

BACKGROUND: Women are reported more likely to develop depression and dementia. However, the involved mechanism is poorly understood. OBJECTIVE: Here, we clarified the role of estrogen receptor α (ERα) in depression and cognitive deficit in young female rats. METHODS: After being exposed to 7-weeks' chronic unpredicted mild stress (CUMS), the depression resilient rats (Res rats) and depressed rats (Dep rats) were selected according to their records in sucrose preference test, forced swimming test, and open field test. Their cognition abilities were tested by Morris water maze. Proteomic assay, immunoprecipitation, western blotting, immunohistochemical, and Nissl staining were also used to understand the involved mechanism. RESULTS: Compared with control rats and Res rats, Dep rats showed cognitive deficits and hippocampal impairments revealed by proteomic data, neuron losses, increased cleaved caspase-3, ß-catenin phosphorylation, and glycogen synthase kinase3ß (GSK3ß) activation. As ERα, but not ERß, was found declined in hippocampi of Dep rats, 4,4k,4a-(4-propyl-[1H]-pyrazole-1,3,5-triyl) trisphenol (PPT, an ERα agonist, 1 mg/kg/day), was used to treat Dep rats (Dep + PPT). Twenty days later, the depressive behaviors, cognition deficits, and hippocampal neuron loss were rescued in Dep + PPT rats. Furthermore, Res and Dep + PPT rats had higher levels of ß-catenin combined with ERα and lower levels of ß-catenin combined with GSK3ß than Dep rats in hippocampi. CONCLUSION: These results demonstrated hippocampal ERα is an important pro-resilient factor in CUMS-induced depressive behaviors and cognitive deficits. It was also given that the neuroprotection afforded by hippocampal ERα/Wnt interactions have significant implications for cognition and emotion in young females.

5.
Artigo em Inglês | MEDLINE | ID: mdl-32791513

RESUMO

Genetic analyses for bipolar disorder (BD) have achieved prominent success in Europeans in recent years, whereas its genetic basis in other populations remains relatively less understood. We herein report that the leading risk locus for BD in European genome-wide association studies (GWAS), the single-nucleotide polymorphism (SNP) rs9834970 near TRANK1 at 3p22 region, is also genome-wide significantly associated with BD in a meta-analysis of four independent East Asian samples including 5748 cases and 65,361 controls (p = 2.27 × 10-8, odds ratio = 1.136). Expression quantitative trait loci (eQTL) analyses and summary data-based Mendelian randomization (SMR) analyses in multiple human brain samples suggest that lower TRANK1 mRNA expression is a principal BD risk factor explaining its genetic risk signals at 3p22. We also identified another SNP rs4789 in the 3' untranslated region (3'UTR) of TRANK1 showing stronger eQTL associations as well as genome-wide significant association with BD. Despite the relatively unclear neuronal function of TRANK1, our mRNA expression analyses in the human brains and in rat primary cortical neurons reveal that genes highly correlated with TRANK1 are significantly enriched in the biological processes related to dendritic spine, synaptic plasticity, axon guidance and circadian entrainment, and are also more likely to exhibit strong associations in psychiatric GWAS (e.g., the CACNA1C gene). Overall, our results support that TRANK1 is a potential BD risk gene. Further studies elucidating its roles in this illness are needed.

6.
Psychiatr Q ; 91(4): 1209-1224, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32860556

RESUMO

This is a meta-analysis of randomized controlled trials (RCTs) comparing cognitive behaviour therapy for insomnia (CBT-I) monotherapy with active control treatment for insomnia in patients with medical or psychiatric comorbidities. Both international (PubMed, EMBASE, PsycINFO, Cochrane Library) and Chinese (WanFang, and CNKI) databases were systematically searched. The random effects model was used. Thirteen RCTs comparing CBT-I (n = 441) and active controls (n = 412) groups were included. CBT-I group showed significant advantage over active controls at post-treatment assessment in terms of Insomnia Severity Index (ISI; SMD = -0.74), sleep onset latency (SMD = -0.36), wake after sleep onset (SMD = -0.21), sleep quality (SMD = 0.56), Pittsburgh sleep quality index total scores (PSQI; SMD = -0.76) and the total score of dysfunctional beliefs and attitudes about sleep scale (DBAS; SMD = -1.09). Subgroup analyses revealed significant improvement in sleep onset latency in patients with psychiatric disorders (SMD = -0.45), while significant reduction of number of wakeup after sleep onset was found in patients with medical conditions (SMD = -0.31). This meta-analysis found that CBT-I monotherapy had greater efficacy than other active control treatment for insomnia in patients with medical or psychiatric comorbidities.

7.
Asian J Psychiatr ; 49: 101828, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32115395

RESUMO

This was a meta-analysis of randomized controlled trials (RCTs) comparing the effects of cognitive behavioural therapy for insomnia (CBTI) as a monotherapy and active control treatments in persons with insomnia who have no major medical conditions or psychiatric comorbidities. PubMed, PsycINFO, EMBASE, Cochrane Library databases, WanFang and CNKI were systematically and independently searched. Standardized mean differences (SMDs) and risk ratio (RR) with their 95% confidence intervals (CIs) were calculated. Nine RCTs with 12 treatment arms comparing CBTI (n = 479) and active control (n = 510) groups were analyzed. Compared to the active control group, the CBTI group showed significantly less improvement in insomnia at post-CBTI assessment in terms of sleep efficiency (SMD: 0.32, 95% CI: 0.00 to 0.63), sleep latency (SMD: -0.33, 95% CI: -0.56 to -0.09), wake after sleep onset (SMD: -0.27, 95% CI: -0.52 to -0.01), the total scores of Pittsburgh Sleep Quality Index (SMD: -0.52, 95% CI: -0.86 to -0.19), the Insomnia Symptom Index (SMD: -0.68, 95% CI: -1.01 to -0.36), the Dysfunctional Attitudes and Beliefs About Sleep Scale (SMD: -0.76, 95% CI: -1.25 to -0.27), and the Athens Insomnia Scale (SMD: -0.66, 95% CI: -1.07 to -0.24). In this meta-analysis, CBTI monotherapy showed no advantage in improving insomnia compared with other standard treatments.

8.
Transl Psychiatry ; 10(1): 98, 2020 03 17.
Artigo em Inglês | MEDLINE | ID: mdl-32184385

RESUMO

Genome-wide association studies (GWAS) of major depression and its relevant biological phenotypes have been extensively conducted in large samples, and transcriptome-wide analyses in the tissues of brain regions relevant to pathogenesis of depression, e.g., dorsolateral prefrontal cortex (DLPFC), have also been widely performed recently. Integrating these multi-omics data will enable unveiling of depression risk genes and even underlying pathological mechanisms. Here, we employ summary data-based Mendelian randomization (SMR) and integrative risk gene selector (iRIGS) approaches to integrate multi-omics data from GWAS, DLPFC expression quantitative trait loci (eQTL) analyses and enhancer-promoter physical link studies to prioritize high-confidence risk genes for depression, followed by independent replications across distinct populations. These integrative analyses identify multiple high-confidence depression risk genes, and numerous lines of evidence supporting pivotal roles of the netrin 1 receptor (DCC) gene in this illness across different populations. Our subsequent explorative analyses further suggest that DCC significantly predicts neuroticism, well-being spectrum, cognitive function and putamen structure in general populations. Gene expression correlation and pathway analyses in DLPFC further show that DCC potentially participates in the biological processes and pathways underlying synaptic plasticity, axon guidance, circadian entrainment, as well as learning and long-term potentiation. These results are in agreement with the recent findings of this gene in neurodevelopment and psychiatric disorders, and we thus further confirm that DCC is an important susceptibility gene for depression, and might be a potential target for new antidepressants.

9.
Acta Crystallogr C Struct Chem ; 76(Pt 2): 148-158, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-32022709

RESUMO

Two new metal-organic frameworks (MOFs), namely, three-dimensional poly[diaquabis{µ2-1,4-bis[(2-methyl-1H-imidazol-1-yl)methyl]benzene}bis(µ2-glutarato)dinickel(II)] monohydrate], {[Ni2(C5H6O4)2(C16H18N4)2(H2O)2]·H2O}n or {[Ni2(Glu)2(1,4-mbix)2(H2O)2]·H2O}n, (I), and two-dimensional poly[[{µ2-1,4-bis[(2-methyl-1H-imidazol-1-yl)methyl]benzene}(µ2-glutarato)zinc(II)] tetrahydrate], {[Zn(C5H6O4)(C16H18N4)]·4H2O}n or {[Zn(Glu)(1,4-mbix)]·4H2O}n (II), have been synthesized hydrothermally using glutarate (Glu2-) mixed with 1,4-bis[(2-methyl-1H-imidazol-1-yl)methyl]benzene (1,4-mbix), and characterized by single-crystal X-ray diffraction, IR and UV-Vis spectroscopy, powder X-ray diffraction, and thermogravimetric and photoluminescence analyses. NiII MOF (I) shows a 4-connected 3D framework with point symbol 66, but is not a typical dia network. ZnII MOF (II) displays a two-dimensional 44-sql network with one-dimensional water chains penetrating the grids along the c direction. The solid-state photoluminescence analysis of (II) was performed at room temperature and the MOF exhibits highly selective sensing toward Fe3+ and Cr2O72- ions in aqueous solution.

10.
Zool Res ; 41(1): 84-89, 2020 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-31840948

RESUMO

Genome-wide association studies (GWAS) have identified multiple single nucleotide polymorphisms (SNPs) or small indels robustly associated with schizophrenia; however, the functional risk variations remain largely unknown. We investigated the 10q24.32 locus and discovered a 339 bp Alu insertion polymorphism (rs71389983) in complete linkage disequilibrium (LD) with the schizophrenia GWAS risk variant rs7914558. The presence of the Alu insertion at rs71389983 strongly repressed transcriptional activities in in vitro luciferase assays. This polymorphism may be a target for future mechanistic research. Our study also underlines the importance and necessity of considering previously underestimated Alu polymorphisms in future genetic studies of schizophrenia.


Assuntos
Elementos Alu/genética , Polimorfismo de Nucleotídeo Único , Esquizofrenia/genética , Sequência de Bases , Estudos de Associação Genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Células HEK293 , Humanos , Desequilíbrio de Ligação
11.
Biosci Rep ; 39(12)2019 12 20.
Artigo em Inglês | MEDLINE | ID: mdl-31808521

RESUMO

N6-methyladenosine (m6A) is the most common form of messenger RNA (mRNA) modification. An increasing number of studies have proven that m6A RNA methylation regulators are overexpressed in many cancers and participate in the development of cancer through the dynamic regulation of m6A RNA methylation regulators. However, the prognostic role of m6A RNA methylation regulators in bladder cancer (BC) is poorly understood. In the present study, we downloaded the mRNA expression data from The Cancer Genome Atlas (TCGA) database and the corresponding clinical and prognostic information. The relationship between m6A RNA methylation regulators and clinicopathological variables of BC patients was assessed by the Kolmogorov-Smirnov test. The expression of the m6A RNA methylation regulators was differentially associated with different clinicopathological variables of BC patients. The least absolute shrinkage and selection operator (LASSO) Cox regression model was then applied to identify three m6A RNA methylation regulators. The risk signature was constructed as follows: 0.164FTO - (0.081YTHDC1+0.032WTAP). Based on the risk signature, the risk score of each patient was calculated, and the patients were divided into a high-risk group and a low-risk group. The overall survival (OS) rate of the high-risk group was significantly lower than that of the low-risk group. The risk signature was not only an independent prognostic marker for BC patients but also a predictor of clinicopathological variables. In conclusion, m6A RNA methylation regulators can participate in the malignant progression of BC, and a risk signature with three selected m6A RNA methylation regulators may be a promising prognostic biomarker to guide personalized treatment for BC patients.


Assuntos
Adenosina/análogos & derivados , Biomarcadores Tumorais/metabolismo , RNA Neoplásico/metabolismo , Neoplasias da Bexiga Urinária , Adenosina/metabolismo , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Metilação , Taxa de Sobrevida , Neoplasias da Bexiga Urinária/metabolismo , Neoplasias da Bexiga Urinária/mortalidade , Neoplasias da Bexiga Urinária/patologia
12.
J Clin Neurosci ; 70: 14-19, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31629608

RESUMO

Cognitive dysfunction and pro-inflammatory effect has been associated with major depressive disorder (MDD), but sex differences have seldom been studied. The study was to determine the sex difference of cognitive dysfunction and pro-inflammatory biomarkers among patients with MDD in Chinese Han population. 104 MDD patients (male n = 37, female n = 67) were included in the study. Their sociodemographic and clinical features, including age, body mass index (BMI), education, smoking, alcohol use, illness characteristics and medicine use were recorded. Montreal Cognitive Assessment (MoCA) was used to assess cognition. And we detected pro-inflammatory biomarkers Interleakin-1ß (IL-1ß), Interleakin-6 (IL-6) and C-reaction protein (CRP) levels by enzyme linked immunosorbent assay. We found that male patients showed higher scores than female in MoCA, and performed better than female patients particularly in visuaspatial, naming, attention, orientation subscale. CRP and IL-1ß levels showed no significant difference between male and female patients in MDD. However, Male's IL-6 level was significantly declined than female, negative closed associated with cognition in MOCA score. These results suggested that the difference in IL-6 could reflect a cognitive difference between male and female in MDD, and IL-6 elevation could represent a state indicator for cognitive ability particular in female MDD patients. And it maybe a biological treatment target in cognition dysfunction of female patients in MDD.


Assuntos
Biomarcadores/sangue , Disfunção Cognitiva/imunologia , Transtorno Depressivo Maior/imunologia , Interleucina-6/sangue , Caracteres Sexuais , Adulto , Grupo com Ancestrais do Continente Asiático , Disfunção Cognitiva/sangue , Transtorno Depressivo Maior/sangue , Transtorno Depressivo Maior/complicações , Feminino , Humanos , Interleucina-6/imunologia , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade
13.
J Clin Pharm Ther ; 44(6): 858-867, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31436349

RESUMO

WHAT IS KNOWN AND OBJECTIVE: Statins are widely used worldwide in the prevention and treatment of coronary atherosclerotic heart disease and ischaemic stroke. However, in clinical application, statins have shown great individual differences in terms of the efficacy and safety, some of which are related to genetic factors. The purpose of this article was to summarize the recent advances about the correlation between gene polymorphisms and the efficacy/safety of statins. METHODS: We searched the databases including PharmGKB and PubMed (published before June 2019) using the keywords such as 'statin', 'gene polymorphism' and 'SNP' and obtained more than 100 articles. In this review, we described the clinical studies of genetic variants associated with both the efficacy and adverse reactions of statins. We also clarified the importance of taking pharmacogenetic variation into account to improve the clinical application of statins. RESULTS AND DISCUSSION: The available data were collected and analysed to present the polymorphisms of candidate genes encoding the most promising proteins including SLCO1B1 (encoding uptake transporters); ABCB1, ABCC2, ABCG2 (encoding effluent transporter); APOE, APOA5 (encoding apolipoprotein); genes encoding cytochrome P450 enzyme system; KIF6, HMGCR, LDLR, LPA, PCSK9, COQ2, CETP, etc These genes were proved to be related to the pharmacodynamics and pharmacokinetics of statins, thus affecting the efficacy and safety. WHAT IS NEW AND CONCLUSION: In this paper, the correlation between gene polymorphisms and the efficacy/safety of statins was summarized. The authors reached a consensus that the variants of the genes encoding uptake and effluent transporters have the most effect on the efficacy/safety of statins. It pointed out that it is desirable to do genetic testing of these transporter genes to reduce the incidence of myopathy or to achieve better outcomes before patients use statins, especially in the regions with high frequency of risk allele.


Assuntos
Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Alelos , Animais , Humanos , Doenças Musculares/genética , Farmacogenética/métodos , Polimorfismo de Nucleotídeo Único/genética
14.
J Affect Disord ; 244: 209-216, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30359816

RESUMO

BACKGROUND: Depressive symptoms are common in 'left-behind children (LBC)' in China, but their prevalence estimates have been inconsistent. This comprehensive meta-analysis examined the pooled prevalence of depressive symptoms in LBC in China and its associated factors. METHODS: Two investigators systematically and independently searched both English (PubMed, PsycINFO, and EMBASE) and Chinese (WanFang Database, CNKI, and SinoMed) databases. Comparative and epidemiological studies reporting the prevalence of depressive symptoms and associated relevant information were included. The prevalence of depressive symptoms was pooled using the random-effects model. RESULTS: A total of 39 studies covering 31,663 LBC and 20,049 non-LBC controls were included in the meta-analysis. The figures of pooled prevalence of depressive symptoms in LBC and non-LBC were 30.7% and 22.8%, respectively. Subgroup analyses revealed that the use of different scales was significantly associated with the prevalence of depressive symptoms. Compared with non-LBC, LBC were more likely to suffer from depressive symptoms (OR = 1.7, 95% CI: 1.4-1.9). CONCLUSIONS: This meta-analysis confirmed that the prevalence of depressive symptoms in LBC is common in China. In order to reduce the risk of depressive symptoms in this vulnerable segment of the population, the development of screening and therapeutic interventions is urgently needed.


Assuntos
Criança Abandonada/psicologia , Depressão/epidemiologia , Emigração e Imigração , Adolescente , Criança , China/epidemiologia , Bases de Dados Factuais , Estudos Epidemiológicos , Feminino , Humanos , Masculino , Prevalência , Inquéritos e Questionários
15.
Gene ; 665: 111-118, 2018 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-29730424

RESUMO

As an essential mediator in the Gonadotropin-releasing hormone (GnRH) signaling pathway, GnRH receptor (GnRHR) coupled to GnRH, plays an important role in activating the downstream pathway after stimulating a series of cascades to regulate reproduction. To detect the existence of GnRHR and potential GnRH signaling pathway, we cloned and characterized GnRHR in the Chinese mitten crab, Eriocheir sinensis (named EsGnRHR). The full-length EsGnRHR cDNA is 2038 bp in length, including an open reading frame (ORF) of 1566 bp, a 57 bp 5'-untranslated region (5'-UTR) and a 415 bp 3'-UTR. Prediction of transmembrane domains in protein sequence revealed that the EsGnRHR protein contained seven hydrophobic transmembrane regions (TMs). Reverse transcription PCR revealed that EsGnRHR was mainly expressed in the thoracic nerve group and ovary, and weakly distributed in the testis and brain. In situ hybridization further demonstrated that EsGnRHR mRNA was localized at the protocerebrum and deutocerebrum. In the ovary and testis, the hybridization signal was dominantly at the earlier developmental stages. The signal was mainly localized in the cytoplasm cell in the ovary, and in the epithelium cell in the testis. During the different stages of gonadal development, EsGnRHR displayed increasing trends in both female and male when analyzed by quantitative real-time PCR, suggesting that EsGnRHR was involved in controlling gonadal development. Our study provides important information for further research on the molecular mechanisms underlying crab development.


Assuntos
Proteínas de Artrópodes , Braquiúros , Clonagem Molecular , Regulação da Expressão Gênica/fisiologia , Receptores LHRH , Animais , Proteínas de Artrópodes/biossíntese , Proteínas de Artrópodes/genética , Braquiúros/genética , Braquiúros/metabolismo , Feminino , Masculino , Ovário/metabolismo , Receptores LHRH/biossíntese , Receptores LHRH/genética , Testículo/metabolismo
16.
Oncol Lett ; 13(5): 3608-3616, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28521461

RESUMO

The efficacy of epidermal growth factor receptor- targeted therapy is significantly associated with Kirsten rat sarcoma viral oncogene homolog (KRAS) and B-raf serine/threonine kinase proto-oncogene (BRAF) mutation in patients with colorectal cancer (CRC), for which the standard gene testing is currently performed using tumor tissue DNA. The aim of the present study was to compare the presence of KRAS and BRAF mutations in the serum exosome and primary tumor tissue from patients with CRC. Genomic DNA were extracted from the tumor tissues of 35 patients with histologically-confirmed CRC and exosomal mRNA were obtained from peripheral blood, which were collected from the corresponding patients prior to surgery. Three mutations in the KRAS gene (codons 12, 13 and 61) and a mutation in the BRAF gene (codon 600) were detected using a polymerase chain reaction-based sequencing method and their presence were compared between tumor tissues and the matched serum exosomes. The KRAS mutation rates in tumor tissues and the matched serum exosomes were 57.6 and 42.4%, respectively, which was not significantly different (P=0.063). The detection rate of the BRAF mutation was 24.2 and 18.2% in tumor tissues and the matched serum exosomes, respectively, and there was no significant difference (P=0.500). The patients with CRC that had a KRAS mutation of codon 12 in exon 2 in their tumor tissues and serum exosomes were significantly older compared with those without this mutation (tumor tissue, P=0.002; serum exosome, P=0.022). The sensitivity of KRAS and BRAF mutation detection using exosomal mRNA was 73.7 and 75%, respectively. The specificity of the detected mutations exhibited an efficiency of 100%, and the total consistency rate was 94.9 and 93.9% for KRAS and BRAF mutations, respectively. These results suggested that serum exosomal mRNA may be used as a novel source for the rapid and non-invasive genotyping of patients with CRC.

17.
Dalton Trans ; 45(4): 1382-90, 2016 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-26674324

RESUMO

The hydrothermal reaction of two new tetradentate ligands with different metal salts of cadmium nitrate, zinc chloride, cobalt nitrate and deprotonated terephthalic acid (H2tp), isophthalic acid (H2ip), 4,4'-oxybisbenzoic acid (H2obba) in H2O/DMF or H2O/methanol gave three metal-organic frameworks (MOFs): {[Zn2(L1)(tp)(formate)2]·H2O}n (), {[Cd2(L2)(ip)2]·2H2O}n (), {[Co2(L2)(obba)2]}n () (L1 = 1,2-bis {2,6-bis [(1H-imidazol-1-yl) methyl]-4-methylphenoxy} ethane, L2 = 1,3-bis {2,6-bis [(1H-imidazol-1-yl) methyl]-4-methylphenoxy} propane). The structures of the frameworks are established by single-crystal X-ray diffraction. Compound is a three-dimensional (3D) framework with a 2-fold interpenetrated form, which exhibits a 2-nodal (3,4)-connected fsh-3,4-P21/c net with a {8(3)}2{8(5)·10} topology. Compound has a 2-nodal (4,8)-connected 3D framework where the dinuclear cadmium cluster secondary building units (SBUs) assemble with isophthalate and ligand L2 to construct a rare topological type sqc22 net with a {3(2)·5(4)}{3(4)·4(4)·5(10)·6(10)} topology. Whereas, Compound can be extended to a 2D interlocked (4,4)-connected 4,4 L28 net with the point symbol {4·6(4)·8}2{4(2)·6(4)}. L1 and L2 are tetradentate ligands with diverse linkers and display different coordination modes. In addition, the thermal stability and photochemical properties of the frameworks are also investigated.

18.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 23(4): 1108-11, 2015 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-26314455

RESUMO

OBJECTIVE: To investigate the diagnostic value and clinical significance of the glucose 6-phosphate dehy-drogenase (G6PD) activity for mediterranean anemia (MA), so as to provide the reference for early clinical diagnosis and treatment of MA. METHODS: The peripheral blood was collected from 100 healthy persons and 168 patients with MA, then the agarose gel electrophoresis, MA gene detection, blood routine examination, serum ferrium levels and G6PD activity assay were performed, and the results of evaluating MA were comparatively analyzed. RESULTS: The G6PD activity in all type MA patients was obviously higher than that in healthy controls (P < 0.01), the MCV value in all type MA patients was significantly lower than that in healthy controls (P < 0.01). The detection of G6PD activity showed that the sensitivity, specificity, positive and negative likelihood ratio, diagnostic index and Youden index of G6PD for MA patients were 85.12%, 68%, 2.66, 0.219, 1.53 and 0.53 respectively, which suggest the better efficacy of G6PD value for diagnosis of MA. CONCLUSION: The G6PDS activity of patients with MA in different subtypes is higher than that of healthy persons, the G6PD level has a certain diagnostic value for MA, but there is an optimal range.


Assuntos
Talassemia beta , Glucose-6-Fosfato , Glucosefosfato Desidrogenase , Humanos
19.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi ; 26(4): 437-8, 452, 2014 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-25434147

RESUMO

OBJECTIVE: To investigate the relationship between Toxoplasma gondii (TOX) infection and abnormal pregnancy outcomes. METHODS: A total of 126 cases of abnormal pregnancy women in the Department of Obstetrics and Gynecology, the Fourth People' s Hospital of Langfang from March to December 2013 were chosen as an experimental group, and 263 cases of normal pregnancy women of childbearing age as a control group. The TOX-IgM and -IgG antibodies were detected by ELISA. The data in the two groups were processed and analyzed by SPSS13.0. RESULTS: The positive rates of TOX-IgM, -IgG in 126 cases of abnormal pregnancy women were 7.94% and 19.84% respectively, and 1.90% and 8.75% in the control group respectively, and there were significant differences between them (χ2IgM = 6.82, χ2IgG = 9.70, both P <0.01). The positive rates of TOX-IgM, -IgG in the normal pregnancy women were lower than those in 4 sub-groups of abnormal pregnancy women, and all the differences were statistically significant (χ2 spontaneous abortion = 10.40, χ2 premature delivery = 9.03 χ2 embryo damage = 4.32, χ2 birth defet = 4.04, all P< 0.05). However, the TOX-IgM, -IgG positive rates in the 4 sub-groups of abnormal pregnancy women had no statistically significant difference (P > 0.05). CONCLUSIONS: TOX infection could cause serious abnormal pregnancy outcomes. Therefore, the comprehensive control measures should be strengthened.


Assuntos
Complicações Parasitárias na Gravidez/fisiopatologia , Resultado da Gravidez , Toxoplasma/fisiologia , Toxoplasmose/fisiopatologia , Adulto , Feminino , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Gravidez , Complicações Parasitárias na Gravidez/sangue , Toxoplasma/imunologia , Toxoplasmose/sangue , Adulto Jovem
20.
Dongwuxue Yanjiu ; 35(5): 398-403, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25297079

RESUMO

In this study, to clarify the bioactive polypeptides included in the skins and secretions of Bufo, we screened the Japanese toad (Bufo japonicus formosus) skin cDNA liary by colony polymerase chain reaction (PCR), and obtained a transcript of 1 075 bp consisting of 1 37 bp 5' untranslated region (UTR), 515 bp 3' UTR and a 423 bp open reading frame (ORF) encoding a polypeptide of 140 amino acid residues (GenBank accession number: KF359945). Homolog analysis showed a 70%-96% homology with sterol carrier protein-2 (SCP-2) present in other animals, which is implicated in lipid metabolism of other organisms. The gene SCP-2 of Chinese toad (B. gargarizans) was cloned from a first strand cDNA of Bufo skin (GenBank accession number: KF381341) via PCR, whose encoding polypeptide has only one amino acid difference from that of Japanese toad. Tissue distribution analysis showed that SCP-2 expressed in all organs tested, though in the liver and spleen it manifested lower expression than in other organs. These findings might indicate SCP-2 being one of the active ingredients in toad skin. These findings may in turn have implications for further drug development from traditional Chinese medicine sources.


Assuntos
Bufonidae/metabolismo , Proteínas de Transporte/metabolismo , Clonagem Molecular , Regulação da Expressão Gênica/fisiologia , Sequência de Aminoácidos , Animais , Sequência de Bases , Bufonidae/genética , Proteínas de Transporte/genética , Domínio Catalítico , Dados de Sequência Molecular , Filogenia , Especificidade da Espécie
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