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1.
Dalton Trans ; 2021 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-33443520

RESUMO

Lanthanide metal-organic frameworks (Ln-MOFs) have demonstrated great potential in luminescence sensing and optical anti-counterfeiting. High-security anti-counterfeiting technology is of great importance and requires the development of universal luminescent materials with multiple modes of emission and adjustable photoluminescence. Herein, a 3D red light emission microporous europium(iii) metal-organic framework [Eu3(OH)(1,3-db)2(H2O)4]·3H2O (1) (1,3-db = 1,3-di(3',5'-dicarboxylpheny) benzene) was constructed from a zigzag [Eu3(COO)8] chain and π-electron-rich terphenyl-tetracarboxylate. Notably, the quenched fluorescence of 1 under hydrogen chloride vapor could be recovered upon fuming by a vapor of Et3N. Most strikingly, the strong blue light emission by nitrogen and sulfur co-doped carbon dots (N,S-CDs) could be encapsulated in 1 to generate a dual-emission composite, namely, N,S-CDs@Eu-MOF, which shows solvent-dependent photoluminescence: N,S-CD-related blue luminescence in water and Eu-MOF-related red emission in organic solvents. Taking advantage of the above unique reversible fluorescent behavior, Eu-MOF and N,S-CDs@Eu-MOF are prepared as fluorescent high-security inks to achieve data encryption and decryption on specific flower patterns.

2.
Nurs Open ; 2020 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-33377613

RESUMO

AIM: To assess the effectiveness of decision aids in the treatment, prevention and screening of breast cancer patients. DESIGN: A systematic review and meta-analysis. METHODS: The review protocol was registered in the CRD Prospero database(CRD42020173028). A literature search was carried out in five databases: PubMed, Cochrane, EMBASE, Scopus and Web of science data in January 2020. We used The Cochrane risk bias assessment tool to evaluate the literature quality of included trials and the Review Manager 5.2 software to analyse data. RESULTS: We included 22 studies. Compared with the conventional methods, decision aids reduced treatment decision conflicts and had no significant effect on screening decision conflicts (WMD=-2.25, 95% CI = - 2.64,-1.87, p < .0001; WMD=-1.37, 95% CI = - 3.57,0.83, p = .22). Three were no statistical differences in participants' anxiety, decision regret, knowledge, informed choice and decision-making satisfaction between the two groups.

3.
Mil. med. res. (Lond.) ; 7(41): 1-33, Sept. 04, 2020.
Artigo em Inglês | BIGG - guias GRADE | ID: biblio-1129883

RESUMO

The novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of a rapidly spreading illness, coronavirus disease 2019 (COVID-19), affecting more than seventeen million people around the world. Diagnosis and treatment guidelines for clinicians caring for patients are needed. In the early stage, we have issued "A rapid advice guideline for the diagnosis and treatment of 2019 novel coronavirus (2019-nCoV) infected pneumonia (standard version)"; now there are many direct evidences emerged and may change some of previous recommendations and it is ripe for develop an evidence-based guideline. We formed a working group of clinical experts and methodologists. The steering group members proposed 29 questions that are relevant to the management of COVID-19 covering the following areas: chemoprophylaxis, diagnosis, treatments, and discharge management. We searched the literature for direct evidence on the management of COVID-19, and assessed its certainty generated recommendations using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach. Recommendations were either strong or weak, or in the form of ungraded consensus-based statement. Finally, we issued 34 statements. Among them, 6 were strong recommendations for, 14 were weak recommendations for, 3 were weak recommendations against and 11 were ungraded consensus-based statement. They covered topics of chemoprophylaxis (including agents and Traditional Chinese Medicine (TCM) agents), diagnosis (including clinical manifestations, reverse transcription-polymerase chain reaction (RT-PCR), respiratory tract specimens, IgM and IgG antibody tests, chest computed tomography, chest x-ray, and CT features of asymptomatic infections), treatments (including lopinavir-ritonavir, umifenovir, favipiravir, interferon, remdesivir, combination of antiviral drugs, hydroxychloroquine/chloroquine, interleukin-6 inhibitors, interleukin-1 inhibitors, glucocorticoid, qingfei paidu decoction, lianhua qingwen granules/capsules, convalescent plasma, lung transplantation, invasive or noninvasive ventilation, and extracorporeal membrane oxygenation (ECMO)), and discharge management (including discharge criteria and management plan in patients whose RT-PCR retesting shows SARS-CoV-2 positive after discharge). We also created two figures of these recommendations for the implementation purpose. We hope these recommendations can help support healthcare workers caring for COVID19 patients


Assuntos
Humanos , Adulto , Plasma/imunologia , Pneumonia Viral/diagnóstico , Pneumonia Viral/tratamento farmacológico , Cloroquina/uso terapêutico , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/tratamento farmacológico , Quimioprevenção/métodos , Receptores de Interleucina-6/uso terapêutico , Antirretrovirais/uso terapêutico , Pandemias/prevenção & controle , Lopinavir/uso terapêutico , Betacoronavirus/efeitos dos fármacos , Hidroxicloroquina/uso terapêutico , Prática Clínica Baseada em Evidências/métodos
4.
J Transl Med ; 18(1): 274, 2020 07 06.
Artigo em Inglês | MEDLINE | ID: mdl-32631442

RESUMO

BACKGROUND: Since the outbreak of coronavirus disease 2019 (COVID-19), many researchers in China have performed related clinical research. However, systematic reviews of the registered clinical trials are still lacking. Therefore, we conducted a systematic review of clinical trials for COVID-19 to summarize their characteristics. METHODS: This study is based on the PRISMA recommendations in the Cochrane handbook. The Chinese Clinical Registration Center and the ClinicalTrials.gov databases were searched to identify registered clinical trials related to COVID-19. The retrieval inception date was February 9, 2020. Two researchers independently selected the literature based on the inclusion and exclusion criteria, extracted data, and evaluated the risk of bias. RESULTS: A total of 75 registered clinical trials (63 interventional studies and 12 observational studies) for COVID-19 were identified. The majority of clinical trials were sponsored by Chinese hospitals. Only 11 trials have begun to recruit patients, and none of the registered clinical trials have been completed; 34 trials were early clinical exploratory trials or in the pre-experiment stage, 13 trials were phase III, and four trials were phase IV. The intervention methods included traditional Chinese medicine in 26 trials, Western medicine in 30 trials, and integrated traditional Chinese medicine and Western medicine in 19 trials. The subjects were primarily non-critical adult patients (≥ 18 years old). The median sample size of the trials was 100 (IQR: 60-200), and the median length of the trial periods was 179 d (IQR: 94-366 d). The main outcomes were clinical observation and examinations. Overall, the methodological quality of both the interventional trials and observational studies was low. CONCLUSIONS: Intensive clinical trials on the treatment of COVID-19 using traditional Chinese medicine and Western medicine are ongoing or will be performed in China. However, based on the uncertain methodological quality, small sample size, and long trial duration, we will not be able to obtain reliable, high-quality clinical evidence regarding the treatment of COVID-19 in the near future. Improving the quality of study design, prioritizing promising drugs, and using different designs and statistical methods are worth advocating and recommending for clinical trials of COVID-19 in the future.


Assuntos
Betacoronavirus/fisiologia , Ensaios Clínicos como Assunto , Infecções por Coronavirus/virologia , Pneumonia Viral/virologia , Humanos , Estudos Observacionais como Assunto , Pandemias , Viés de Publicação , Risco , Resultado do Tratamento
5.
Dalton Trans ; 46(46): 16145-16158, 2017 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-29130092

RESUMO

Density functional theory calculations combined with the energy and building-block decomposition analyses have been carried out to investigate the structures, stability orders, redox potentials and proton binding of the six Baker-Figgis isomers (α, ß, γ, α*, ß* and γ*) of [(SbO6)W18O54(OH)2]9- {H2SbW18} and [(NaF6)W18O54(OH)2]7- {H2NaW18} anions at the level of PBEsol-D3/TZP. Both bonding energy and Gibbs free energy analyses exhibit that the two non-classical Wells-Dawson (WD) species behave quite differently from each other. The pyroanimonate {H2SbW18}, with a stability order of γ* > ß* > α > α* > ß > γ, is a non-classical WD species, while the hexafluoride {H2NaW18} (α > ß > γ > γ* > ß* > α*) is a transition intermediate between classical and non-classical WD types, possessing both non-classical ([XW18O60(OH)2]n-, X = I, Te and W) and classical [Si2W18O62]8- properties. Energy decomposition analyses (EDA) reveal that spatial arrangement (Ehost), host-guest fragment interaction energy (FIE), and structural distortion energy (DE) are three key factors governing the relative stability of isomers; among these, DE is always dominant, while FIE and Ehost are subordinated but are still important. Building-block decomposition analyses (BDA) disclose that the octahedral {MO6} units of the equatorial belt, particularly the staggered belt, are always more distorted than those of the two polar caps inside each structure. The theoretical redox potentials demonstrate that the oxidizing power increases with a trend of α < ß < γ and α* < ß* < γ* for both species, and the first redox potential is closely related to the energy level of the LUMO of each anion. Evaluation of the proton inclusion energies suggests that {H2NaW18} can only embed two protons, while {H2SbW18} may encapsulate four; the number of embedded protons is controlled by both the charge of the heteroatom X and the volume of the tetrahedral {O4}/{OF3} cavity.

6.
J Dermatol ; 43(11): 1307-1313, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27153935

RESUMO

Dermatomyositis (DM) is a polygenic disorder characterized by inflammation of skeletal muscle and skin. To date, the exact etiopathogenesis of DM remains elusive. To explore the genetic basis of DM, we conducted genome-wide genotyping analysis of 127 patients and 1566 healthy controls by Illumina Human OmniZhongHua-8 BeadChips in the Chinese Han population. We investigated whether the three SNP (rs7750458, rs9501251 and rs9500928) at 6p21.32 in the HLA-DPB1 gene were significantly associated with DM (P < 5 × 10-8 ) and identified two susceptibility loci at 7q34 (PIP, rs9986765, P = 7.45 × 10-7 , odds ratio [OR] = 2.71) and 10q24.2 (CPN1, rs3750716, P = 9.04 × 10-7 , OR = 4.39) with suggestive evidence. We imputed 6674 classical human leukocyte antigen (HLA) alleles, amino acids and SNP from the discovery dataset, and stepwise analysis revealed that HLA-DPB1*17 in class II HLA genes were significantly associated with DM susceptibility. This study represents the first genome-wide association study (GWAS) of DM in the Chinese Han population. For the first time, HLA-DPB1 was found to be associated with DM in this population. Moreover, we identified two novel suggestive susceptibility loci (PIP and CPN1) and confirmed four previously reported genes (DMB, DQA1, DQB1 and DRB1) having potential associations with DM in the Chinese Han population. Our GWAS results in this population should provide important information regarding the genetic etiopathogenesis of DM and facilitate the development of new therapies for the treatment of DM and the prevention of DM progression.


Assuntos
Dermatomiosite/imunologia , Cadeias beta de HLA-DP/genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
7.
Arthritis Res Ther ; 17: 85, 2015 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-25890262

RESUMO

INTRODUCTION: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease. Currently, numerous genetic loci of SLE have been confirmed. Here we try to further explore additional genes contributing to SLE susceptibility in this study. METHODS: Forty nine single nucleotide polymorphisms (SNPs) with moderate-risk for SLE in previous study were genotyped in a large-scale replication study with a total of 3,522 cases and 8,252 controls using the Sequenom Massarray system. Association analyses were performed using logistic regression with gender or sample cohorts as a covariate through PLINK 1.07 software. RESULTS: This replication effort confirmed five reported SLE susceptibility loci reaching genome-wide levels of significance (P(meta) <5.00 × 10(-08)): TNFSF4 (rs1418190, odds ratio (OR) = 0.81, P(meta) = 1.08 × 10(-08); rs4916219, OR = 0.80, P(meta )= 7.77 × 10(-09)), IRF8 (rs2934498, OR = 1.25, P(meta) = 4.97 × 10(-09)), miR-146a (rs2431697, OR = 0.69, P(meta) = 1.15 × 10(-22)), CD44 (rs2732547, OR = 0.82, P(meta) = 1.55 × 10(-11)), and TMEM39A (rs12494314, OR = 0.84, P(meta) = 1.01 × 10(-09)). Further logistic regression analysis indicated that the genetic effects within TNFSF4 detected in this study are independent from our previously reported signals. CONCLUSIONS: This study increases the number of established susceptibility loci for SLE in Han Chinese population and highlights the contribution of multiple variants of modest effect. Although further studies will be required to identify the causal alleles within these loci, the findings make a significant step forward in our understanding of the genetic contribution to SLE in Chinese population.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Loci Gênicos/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/genética , Adulto , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Predisposição Genética para Doença/epidemiologia , Humanos , Lúpus Eritematoso Sistêmico/epidemiologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Adulto Jovem
8.
J Invest Dermatol ; 134(2): 359-365, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23897274

RESUMO

Psoriasis is a chronic inflammatory disease with a complex genetic architecture. To further advance gene discovery, we extended our genome-wide association study data set of 1,139 cases and 2,234 controls and replicated two independent cohorts of 7,200 cases and 10,491 controls. We identified the missense variant rs2303138 (p.Ala763Thr) within the LNPEP gene associated with psoriasis (Pcombined=1.83 × 10(-13), odds ratio=1.16) and validated four previously reported genes: IL28RA, NFKBIA, TRAF3IP2, and CARD14 (9.74 × 10(-11)P9.37 × 10(-5)), which confirmed the involvement of the nuclear factor-κB signaling pathway in psoriasis pathogenesis. LNPEP, also named insulin-responsive aminopeptidase, was identified as an angiotensin IV receptor. Protein function prediction suggested that this missense variant of LNPEP was most likely deleterious. Expression analysis showed that LNPEP was significantly downregulated in psoriatic lesions compared with the control skin (P=1.44 × 10(-6)) and uninvolved patient skin (P=2.95 × 10(-4)). Pathway analysis indicated that LNPEP was involved in the renin-angiotensin system, which also has a key role in cardiovascular disease and diabetes. These results provided genetic evidence that psoriasis might share common mechanisms with hypertension and diabetes, which was consistent with clinical observations. Our study identified a genetic susceptibility factor and provided genetic evidence of insight into psoriasis pathogenesis with the involvement of the renin-angiotensin system pathway.


Assuntos
Cistinil Aminopeptidase/genética , Mutação de Sentido Incorreto , Psoríase/epidemiologia , Psoríase/genética , Proteínas Adaptadoras de Transdução de Sinal , Adolescente , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Grupo com Ancestrais do Continente Asiático/estatística & dados numéricos , Proteínas Adaptadoras de Sinalização CARD/genética , Grupo com Ancestrais do Continente Europeu/genética , Grupo com Ancestrais do Continente Europeu/estatística & dados numéricos , Feminino , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Guanilato Ciclase/genética , Humanos , Proteínas I-kappa B/genética , Interleucinas/genética , Masculino , Proteínas de Membrana/genética , Inibidor de NF-kappaB alfa , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Peptídeos e Proteínas Associados a Receptores de Fatores de Necrose Tumoral/genética , Adulto Jovem
9.
Rheumatol Int ; 34(4): 459-64, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24091983

RESUMO

Our previous genome-wide association studies on SLE have identified several susceptibility genes involved in NF-κB signaling pathway, including TNFSF4, TNFAIP3, TNIP1, BLK, SLC15A4 and UBE2L3. The aim of this study is to investigate the association model (additive, dominant, recessive) of these genes and search for possible gene-gene interactions between them. In this study, we explored the association model of these six genes and search for possible gene-gene interactions based on identified single-nucleotide polymorphisms (SNPs) among them by using logistic regression analysis in the combined sample of 4,199 cases and 8,255 controls. The most significant association evidence was observed under recessive model for all of these SNPs. Besides, significant interactions between these SNPs were observed in this study: the TNFSF4 and TNIP1 SNPs (P adjusted = 1.68E-10), the TNFSF4 and SLC15A4 SNPs (P adjusted = 3.55E-08), the TNFSF4 and UBE2L3 SNPs (P adjusted = 8.74E-13), the TNIP1 and BLK SNPs (P adjusted = 9.45E-10), the TNIP1 and UBE2L3 SNPs (P adjusted = 8.25E-11), the TNFAIP3 and UBE2L3 SNPs (P adjusted = 3.06E-14) and the BLK and SLC15A4 SNPs (P adjusted = 4.51E-12). These results may contribute to our understanding of SLE genetic interactions and account for the additional risk of certain patients to develop SLE.


Assuntos
Proteínas de Transporte/genética , Proteínas de Ligação a DNA/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Lúpus Eritematoso Sistêmico/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Ligante OX40/genética , Polimorfismo de Nucleotídeo Único , Enzimas de Conjugação de Ubiquitina/genética , Quinases da Família src/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , China/epidemiologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Modelos Logísticos , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/etnologia , Masculino , Proteínas de Membrana Transportadoras , Pessoa de Meia-Idade , Razão de Chances , Fatores de Risco , Proteína 3 Induzida por Fator de Necrose Tumoral alfa , Adulto Jovem
10.
J Med Genet ; 50(12): 812-8, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24070858

RESUMO

BACKGROUND: Genome-wide association studies (GWASs) have revealed a large number of genetic risk loci for many autoimmune diseases. One clear finding emerging from the published genetic studies of autoimmunity is that different autoimmune diseases, such as psoriasis and systemic lupus erythematosus (SLE), share susceptibility loci. Our study explores additional susceptibility loci shared by psoriasis and SLE in the Chinese Han population. METHODS: In total, 20 single nucleotide polymorphisms (SNPs) in 17 previously reported psoriasis susceptibility loci and 34 SNPs from 24 previously reported SLE susceptibility loci were investigated in our initial psoriasis and SLE GWAS dataset. Among these SNPs, we selected two SNPs (rs8016947 and rs4649203) with association values of p<5×10(-2) for both diseases in the GWAS data for further investigation in psoriasis (7260 cases and 9842 controls) and SLE (2207 cases and 9842 controls) using a Sequenom MassARRAY system. RESULTS: We found that these two SNPs (rs8016947 and rs4649203) in two loci (NFKBIA and IL28RA) were associated with psoriasis and SLE with genome-wide significance (Pcombined<5×10(-8) in psoriasis and Pcombined<5×10(-8) in SLE): rs8016947 at NFKBIA (Pcombined-psoriasis=3.90×10(-10), Pcombined-SLE=1.08×10(-13)) and rs4649203 at IL28RA (Pcombined-psoriasis=3.91×10(-12), Pcombined-SLE=9.90×10(-9)). CONCLUSIONS: These results showed that two common susceptibility loci (NFKBIA and IL28RA) are shared by psoriasis and SLE in the Chinese Han population.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Predisposição Genética para Doença/genética , Lúpus Eritematoso Sistêmico/genética , Psoríase/genética , Adulto , China , Feminino , Frequência do Gene , Estudo de Associação Genômica Ampla , Humanos , Lúpus Eritematoso Sistêmico/epidemiologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Psoríase/epidemiologia , Adulto Jovem
11.
Nat Genet ; 44(10): 1156-60, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22983302

RESUMO

Disseminated superficial actinic porokeratosis (DSAP) is an autosomal dominantly inherited epidermal keratinization disorder whose etiology remains unclear. We performed exome sequencing in one unaffected and two affected individuals from a DSAP family. The mevalonate kinase gene (MVK) emerged as the only candidate gene located in previously defined linkage regions after filtering against existing SNP databases, eight HapMap exomes and 1000 Genomes Project data and taking into consideration the functional implications of the mutations. Sanger sequencing in 57 individuals with familial DSAP and 25 individuals with sporadic DSAP identified MVK mutations in 33% and 16% of these individuals (cases), respectively. All 14 MVK mutations identified in our study were absent in 676 individuals without DSAP. Our functional studies in cultured primary keratinocytes suggest that MVK has a role in regulating calcium-induced keratinocyte differentiation and could protect keratinocytes from apoptosis induced by type A ultraviolet radiation. Our results should help advance the understanding of DSAP pathogenesis.


Assuntos
Exoma , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Mutação Puntual , Poroceratose/genética , Apoptose , Estudos de Casos e Controles , Diferenciação Celular , Proliferação de Células , Células Cultivadas , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Humanos , Queratinócitos/fisiologia , Masculino , Linhagem , Poroceratose/patologia , Sítios de Splice de RNA
12.
PLoS One ; 7(4): e35334, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22545103

RESUMO

Atopic diseases, such as atopic dermatitis (AD) and asthma, are closely related to clinical phenotypes with hypersensitivity, and often share some similar genetic and pathogenic bases. Our recent GWAS identified three susceptibility gene/loci FLG (rs11204971 and rs3126085), 5q22.1 (rs10067777, rs7701890, rs13360927 and rs13361382) and 20q13.33 (rs6010620) to AD. The effect of these AD associated polymorphisms in asthma is so far unknown. To investigate whether AD relevant genetic variants is identical to asthma and reveal the differences in genetic factors between AD and asthma in Chinese Han population, seven AD associated single nucleotide polymorphisms (SNPs) as well as 3 other SNPs (rs7936562 and rs7124842 at 11q13.5 and rs4982958 at 14q11.2) from our previous AD GWAS were genotyped in 463 asthma patients and 985 controls using Sequenom MassArray system. We found rs4982958 at 14q11.2 was significantly associated with asthma (P = 3.04×10(-4), OR = 0.73). We also detected one significant risk haplotype GGGA from the 4 SNPs (rs10067777, rs7701890, rs13360927 and rs13361382) at 5q22.1 in AD cases (P(correction) = 3.60×10(-10), OR = 1.26), and the haplotype was suggestive of risk in asthma cases in this study (P = 0.014, P(correction) = 0.084, OR = 1.38). These SNPs (rs11204971, rs3126085, rs7936562, rs712484 and rs6010620) at AD susceptibility genes/loci FLG, 11q13.5 and 20q13.33 were not associated with asthma in this study. Our results further comfirmed that 14q11.2 was an important candidate locus for asthma and demonstrated that 5q22.1 might be shared by AD and asthma in Chinese Han population.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Asma/genética , Dermatite Atópica/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Loci Gênicos , Genótipo , Haplótipos , Humanos , Lactente , Masculino , Adulto Jovem
13.
Rheumatology (Oxford) ; 50(4): 682-8, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21134959

RESUMO

OBJECTIVE: We have performed a large-scale replication study based on our previous genome-wide association study (GWAS) of SLE in the Chinese Han population to further explore additional genetic variants affecting susceptibility to SLE. METHODS: Thirty-eight single nucleotide polymorphisms from our GWAS were genotyped in two additional Chinese Han cohorts (total 3152 cases and 7050 controls) using the Sequenom Massarray system. Association analyses were performed using logistic regression with gender or sample cohorts as a covariate. RESULTS: Association evidence for rs16972959 (PRKCB at 16p11.2) and rs12676482 (8p11.21) with SLE was replicated independently in both replication cohorts (P < 0.05), showing high significance for SLE in combined all 4199 cases and 8255 controls of Chinese Han [rs16972959: odds ratio (OR) = 0.81; 95% CI 0.76, 0.87; P(combined) = 1.35 × 10(-9); rs12676482: OR = 1.26; 95% CI 1.15, 1.38; P(combined) = 6.68 × 10(-7)). PRKCB is related to the established SLE immune-related pathway (NF-κB) and 8p11.21 contains important candidate genes such as IKBKB and DKK4. IKBKB is a critical component of NF-κB and DKK4 is an inhibitor of canonical Wnt signalling pathway. Interestingly, PRKCB is required for recruiting IKBKB into lipid rafts, up-regulating NF-κB-dependent survival signal. CONCLUSIONS: Our findings provided novel insights into the genetic architecture of SLE and emphasized the contribution of multiple variants of modest effect. Further study focused on PRKCB, 8p11.21, should advance our understanding on the pathogenesis of SLE.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Cromossomos Humanos Par 8/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Lúpus Eritematoso Sistêmico/genética , Polimorfismo de Nucleotídeo Único/genética , Proteína Quinase C/genética , Adulto , Grupo com Ancestrais do Continente Asiático/etnologia , Estudos de Casos e Controles , China , Feminino , Seguimentos , Predisposição Genética para Doença/etnologia , Genótipo , Humanos , Quinase I-kappa B/genética , Quinase I-kappa B/fisiologia , Peptídeos e Proteínas de Sinalização Intercelular/genética , Peptídeos e Proteínas de Sinalização Intercelular/fisiologia , Lúpus Eritematoso Sistêmico/etnologia , Masculino , Pessoa de Meia-Idade , NF-kappa B/fisiologia , Proteína Quinase C beta , Transdução de Sinais/genética , Proteínas Wnt/fisiologia
15.
Acta Crystallogr Sect E Struct Rep Online ; 65(Pt 11): m1363, 2009 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-21578117

RESUMO

In the title dinuclear complex, [Cu(2)(C(19)H(11)N(3)O(3)S)(C(5)H(5)N)(2)], the two Cu(II) centers have different coordination environments, viz. N(2)OS and N(2)O(2), each exhibiting a distorted square-planar geometry. π-π inter-actions between the aromatic rings of neighbouring complexes [centroid-centroid distance = 3.856 (5) Å] link pairs of mol-ecules into centrosymmetric dimers, which are further packed into stacks along the b axis with relatively short Cu⋯Cu separations of 3.482 (1) Å. Weak inter-molecular C-H⋯N hydrogen bonds help to consolidate the crystal packing.

16.
Acta Crystallogr Sect E Struct Rep Online ; 65(Pt 11): m1455, 2009 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-21578183

RESUMO

There are two half-mol-ecules in the asymmetric unit of the title compound, [Cu(3)(C(13)H(9)N(2)O(3))(2)(C(5)H(5)N)(4)], and crystallographic inversion symmetry completes each trinuclear mol-ecule. In both mol-ecules, the central Cu atom (site symmetry ) adopts a distorted trans-CuO(2)N(4) octa-hedral geometry, arising from its coordination by two N,O-bidentate aroylhydrazine ligands and two pyridine mol-ecules. The peripheral Cu atoms adopt trans-CuN(2)O(2) square-planar coordinations arising from an N,O,O-tri-dentate ligand (that also bonds to the central Cu atom) and a pyridine mol-ecule.

17.
Di Yi Jun Yi Da Xue Xue Bao ; 25(4): 479-80, 2005 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-15837664

RESUMO

OBJECTIVE: To review our experiences with diagnosis and treatment of 6 cases of penetrating injury to the left ventricle. METHODS: Six patients were admitted to the emergency department 0.5 to 3 h after the injury, all with shock and 3 with obvious pericardiac tamponade. All the patients received immediate thoracotomy for repairing the ruptured left ventricle, sub-pericardial window and pericardiocentesis, with also blood autotransfusion. RESULTS: All patients survived the operations. One patient required reexploration because of hemorrhage in the chest and two presented ST-segment changes in postoperative ECG, and one had nonspecific intraventricular conduction delay with T-wave inversion. CONCLUSIONS: Penetrating injury to the left ventricle is manifested by low blood pressure and signs of pericardial tamponade. Immediate thoracotomy to relieve the tamponade and effective hemostasis can be critical for management of such patients.


Assuntos
Traumatismos Cardíacos/diagnóstico , Traumatismos Cardíacos/cirurgia , Ventrículos do Coração/lesões , Adolescente , Adulto , Tamponamento Cardíaco/etiologia , Tamponamento Cardíaco/cirurgia , Feminino , Traumatismos Cardíacos/complicações , Humanos , Masculino , Ferimentos Penetrantes/diagnóstico , Ferimentos Penetrantes/cirurgia
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