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1.
Biotechnol J ; 19(4): e2300723, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38622797

RESUMO

Polyurethane (PU) is a complex polymer synthesized from polyols and isocyanates. It contains urethane bonds that resist hydrolysis, which decreases the efficiency of biodegradation. In this study, we first expressed the amidase GatA250, and then, assessed the enzymatic characterization of GatA250 and its efficiency in degrading the polyester-PU. GatA250 degraded self-synthesized thermoplastic PU film and postconsumption foam with degradation efficiency of 8.17% and 4.29%, respectively. During the degradation, the film released 14.8 µm 4,4'-methylenedianiline (MDA), but 1,4-butanediol (BDO) and adipic acid (AA) were not released. Our findings indicated that GatA250 only cleaved urethane bonds in PU, and the degradation efficiency was extremely low. Hence, we introduced the cutinase LCC, which possesses hydrolytic activity on the ester bonds in PU, and then used both enzymes simultaneously to degrade the polyester-PU. The combined system (LCC-GatA250) had higher degradation efficiency for the degradation of PU film (42.2%) and foam (13.94%). The combined system also showed a 1.80 time increase in the production of the monomer MDA, and a 1.23 and 3.62 times increase in the production of AA and BDO, respectively, compared to their production recorded after treatment with only GatA250 or LCC. This study provides valuable insights into PU pollution control and also proposes applicable solutions to manage PU wastes through bio-recycling.


Assuntos
Compostos de Anilina , Hidrolases de Éster Carboxílico , Poliésteres , Poliuretanos , Poliésteres/química , Amidoidrolases
2.
Food Chem Toxicol ; 185: 114474, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38301992

RESUMO

Biodegradable plastics, were considered environmentally friendly, may produce more microplastic particles (MPs) within the same period and exert more pronounced adverse effects on human health than traditional non-biodegradable plastics. Thus, this study investigated the changes of two kinds of biodegradable MPs from different sources in the digestive tract by using simulated digestion and fermentation models in vitro, with particle size, scanning electron microscopy (SEM) and gel permeation chromatography (GPC) analysis, and their implications on the gut microbiota were detected by full-length bacterial 16S rRNA gene amplicon sequencing. Poly(ε-caprolactone) (PCL) MPs exhibited stability in the upper gastrointestinal tract, while poly(lactic acid) (PLA) MPs were degraded beginning in the small intestine digestion phase. Both PCL and PLA MPs were degraded and oligomerized during colonic fermentation. Furthermore, this study highlighted the disturbance of the gut microbiota induced by MPs and their oligomers. PCL and PLA MPs significantly changed the composition and reduced the α-diversity of the gut microbiota. PCL and PLA MPs exhibited the same inhibitory effects on key probiotics such as Bifidobacterium, Lactobacillus, Faecalibacterium, Limosilactobacillus, Blautia, Romboutsia, and Ruminococcus, which highlighted the potential hazards of these materials for human health. In conclusion, this study illuminated the potential biodegradation of MPs through gastrointestinal digestion and the complex interplay between MPs and the gut microbiota. The degradable characteristic of biodegradable plastics may cause more MPs and greater harm to human health.


Assuntos
Plásticos Biodegradáveis , Microbioma Gastrointestinal , Humanos , Microplásticos , RNA Ribossômico 16S , Poliésteres , Digestão
3.
Ann Transl Med ; 11(2): 54, 2023 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-36819531

RESUMO

Background: Oxidative stress leads to an increase in reactive oxygen in the body. During heart failure (HF), when the body's antioxidant defense system fails to remove excessive reactive oxygen species, myocardial cells will be damaged or even die. Over the past ten years, the number of research publications on oxidative stress related to HF has increased. Methods: We searched publications published in 2012-2021 and the Web of Science Core Collection (WoSCC) recording information. Based on the VOSviewer and CiteSpace, we conducted a bibliometric analysis of the overall distribution of journals, keywords, authors, major countries, annual output, active institutions, and cocited literature. The Global Citation Score (GCS) was used to evaluate the impact and quality of highly cited papers. Results: We retrieved 5,616 articles and reviews. Over the past ten years, the number of annual publications on oxidative stress related to HF has increased. USA has published the largest number of articles and obtained the highest number of citations (NC) and H-index. The University of California and PLoS One are the most productive affiliations and journals in terms of publications on oxidative stress related to HF. The GCS of articles written by Paulus WJ in 2013 was 1,632, which was the top ranking. The most frequent keywords are "oxidative stress", "heart failure", "inflammation", "dysfunction" and "apoptosis". The top three authors are Kang Yuming, Ren Jun and Okoshi Katashi. "Impact", "induced myocardial infarction", "cardiovascular outcome", "empagliflozin", "sglt2 inhibitor", "protect", and "Na+/H+ exchanger" have become popular research topics. Conclusions: Our research shows the research focus and development trends of oxidative stress related to HF in the past decade. Understanding the most important indicators of oxidative stress related to HF and the hot spots in the field of oxidative stress research related to HF can assist scholars, countries and policy-makers in the field in better understanding oxidative stress related to HF and can also lead to better decisions in oxidative stress treatment.

4.
Front Mol Biosci ; 9: 1036364, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36330217

RESUMO

Heart failure is one of the major public health problems in the world. In recent years, more and more attention has been paid to the relationship between heart failure and mitochondrial function. In the past 2 decades, a growing number of research papers in this field have been published. This study conducted a bibliometric analysis of the published literature on the relationship between MF and HF in the past 20 years by utilizing Microsoft Excel 2019, Biblio metric analysis platform, WoSCC database, VosViewer and Citespace. The results show that the papers have increased year by year and China and the United States are the leading countries in this field, as well as the countries with the most cooperation and exchanges. University of california system is the research institution with the greatest impacts on research results, and Yip H.K. is the author with more papers. The American Journal of Physiology-heart and Circulatory Physiology is probably the most popular magazine. At present, most of the published articles on mitochondria and HF are cited from internationally influential journals. The research focus includes oxidative stress, metabolic dysfunction, mitochondrial Ca2+ homeostasis imbalance, mitochondrial quality control and mitochondrial dysfunction mediated by inflammation in the pathogenesis of HF. Targeted regulating of mitochondria will be the keynote of future research on prevention and treatment of HF.

5.
Zhongguo Zhong Yao Za Zhi ; 47(2): 301-305, 2022 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-35178971

RESUMO

Ginkgo biloba Extract( GBE50) Dispersible Tablets is a new standardized prescription,which is widely used in the treatment of ischemic cardiovascular and cerebrovascular diseases. However,there are still many problems in its clinical application.Rational and safe use of GBE50 Dispersible Tablets is pivotal to the medication safety and clinical prognosis of patients. This consensus has been jointly formulated by clinical experts of traditional Chinese medicine and western medicine in cardiovascular and cerebrovascular diseases and followed the Manual for the Clinical Experts Consensus of Chinese Patent Medicine published by the China Association of Chinese Medicine. The present study identified clinical problems based on clinical investigation,searched the research papers according to PICO clinical problems,carried out evidence evaluation,classification,and recommendation by GRADE system,and reached the expert consensus with nominal group technique. The consensus combines evidence with expert experience. Sufficient evidence of clinical problems corresponds to " recommendations",while insufficient evidence to " suggestions". Safety issues of GBE50 Dispersible Tablets,such as indications,usage and dosage,and medication for special populations,are defined to improve clinical efficacy,promote rational medication,and reduce drug risks. This consensus needs to be revised based on emerging clinical issues and evidencebased updates in practical applications in the future.


Assuntos
Transtornos Cerebrovasculares , Medicamentos de Ervas Chinesas , Transtornos Cerebrovasculares/tratamento farmacológico , Consenso , Medicamentos de Ervas Chinesas/uso terapêutico , Humanos , Medicina Tradicional Chinesa , Comprimidos
6.
Front Genet ; 12: 741607, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34887900

RESUMO

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported. Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

7.
Mol Med Rep ; 24(2)2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34080026

RESUMO

The dynamic regulation of mitochondrial morphology is key for eukaryotic cells to manage physiological challenges. Therefore, it is important to understand the molecular basis of mitochondrial dynamic regulation. The aim of the present study was to explore the role of HIG1 hypoxia inducible domain family member 1B (HIGD­1B) in hypoxia­induced mitochondrial fragmentation. Protein expression was determined via western blotting. Immunofluorescence assays were performed to detect the subcellular location of HIGD­1B. Cell Counting Kit­8 assays and flow cytometry were carried out to measure cell viability and apoptosis, respectively. Protein interactions were evaluated by co­immunoprecipitation. In the present study, it was found that HIGD­1B serves a role in cell survival by maintaining the integrity of the mitochondria under hypoxic conditions. Knockdown of HIGD­1B promoted mitochondrial fragmentation, while overexpression of HIGD­1B increased survival by preventing activation of caspase­3 and ­9. HIGD­1B expression was associated with cell viability and apoptosis in cardiomyocytes. Furthermore, HIGD­1B delayed the cleavage process of optic atrophy 1 (OPA1) and stabilized mitochondrial morphology by interacting with OPA1. Collectively, the results from the present study identified a role for HIGD­1B as an inhibitor of the mitochondrial fission in cardiomyocytes.


Assuntos
GTP Fosfo-Hidrolases/metabolismo , Dinâmica Mitocondrial/fisiologia , Proteínas Mitocondriais/genética , Proteínas Mitocondriais/metabolismo , Miócitos Cardíacos/metabolismo , Apoptose/genética , Morte Celular/genética , Hipóxia Celular/fisiologia , Linhagem Celular , Sobrevivência Celular/genética , Técnicas de Silenciamento de Genes , Humanos , Miócitos Cardíacos/citologia
8.
Asian J Androl ; 23(3): 288-293, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33208564

RESUMO

Dozens of genes are associated with idiopathic hypogonadotropic hypogonadism (IHH) and an oligogenic etiology has been suggested. However, the associated genes may account for only approximately 50% cases. In addition, a genomic systematic pedigree analysis is still lacking. Here, we conducted whole exome sequencing (WES) on 18 unrelated men affected by IHH and their corresponding parents. Notably, one reported and 10 novel variants in eight known IHH causative genes (AXL, CCDC141, CHD7, DMXL2, FGFR1, PNPLA6, POLR3A, and PROKR2), nine variants in nine recently reported candidate genes (DCAF17, DCC, EGF, IGSF10, NOTCH1, PDE3A, RELN, SLIT2, and TRAPPC9), and four variants in four novel candidate genes for IHH (CCDC88C, CDON, GADL1, and SPRED3) were identified in 77.8% (14/18) of IHH cases. Among them, eight (8/18, 44.4%) cases carried more than one variant in IHH-related genes, supporting the oligogenic model. Interestingly, we found that those variants tended to be maternally inherited (maternal with n = 17 vs paternal with n = 7; P = 0.028). Our further retrospective investigation of published reports replicated the maternal bias (maternal with n = 46 vs paternal with n = 28; P = 0.024). Our study extended a variant spectrum for IHH and provided the first evidence that women are probably more tolerant to variants of IHH-related genes than men.


Assuntos
Sequenciamento do Exoma/métodos , Hipogonadismo/genética , Adulto , China , Saúde da Família/estatística & dados numéricos , Feminino , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Humanos , Hipogonadismo/sangue , Masculino , Pessoa de Meia-Idade , Sequenciamento do Exoma/estatística & dados numéricos
9.
Andrologia ; 52(1): e13478, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31749176

RESUMO

l-carnitine is a natural compound that is indispensable for energy metabolism in mammals. The efficiency and safety of l-carnitine in improving sperm activity, enhancing epididymal function and treating male infertility has been widely acknowledged by clinicians. CircRNAs can regulate gene expression at the transcriptional or post-transcriptional level by serving as a molecular sponge of miRNAs with miRNA response elements. However, the detailed mechanism linking miRNA, circRNA and asthenospermia remains unclear. The present study demonstrated that hsa-miR-27b-3p, hsa-miR-151a-5p and hsa-miR-206 play an important role in the effects of l-carnitine treatment of the spermatozoa in asthenospermia patients. Furthermore, the target mRNAs of hsa-miR-206 were analysed by GO and KEGG. The results show that the target mRNAs of hsa-miR-206 may change the activity of ATP synthase and participate in the cAMP signalling pathway and the calcium signalling pathway, which may play an important role in sperm motility.


Assuntos
Astenozoospermia/tratamento farmacológico , Carnitina/administração & dosagem , Redes Reguladoras de Genes/efeitos dos fármacos , MicroRNAs/metabolismo , RNA Mensageiro/genética , Complexos de ATP Sintetase/genética , Adulto , Astenozoospermia/genética , Cálcio/metabolismo , AMP Cíclico/metabolismo , Regulação para Baixo , Perfilação da Expressão Gênica , Humanos , Masculino , MicroRNAs/genética , RNA Circular/metabolismo , Transdução de Sinais/efeitos dos fármacos , Transdução de Sinais/genética , Motilidade dos Espermatozoides/efeitos dos fármacos , Motilidade dos Espermatozoides/genética , Espermatozoides/efeitos dos fármacos , Espermatozoides/metabolismo , Regulação para Cima
10.
J Cosmet Dermatol ; 17(3): 523-526, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29159884

RESUMO

OBJECTIVE: This study was designed to investigate serum homocysteine (HCY) levels in acne patients. METHODS: Acne patients (n = 124) and healthy volunteers (n = 70), matched in terms of both age and sex, were enrolled. Serum HCY levels for all subjects were measured by a clinical laboratory. RESULTS: Serum HCY levels in male and female patients with severe and moderate acne were significantly higher than in the healthy control group (P < .05). The constituent ratio of male and female acne patients with HCY above the normal range (10 mmol/L) was significantly higher than the healthy control group. The severity of acne patients was positively correlated with serum homocysteine concentration, (P < .01). CONCLUSION: Hyperhomocysteinemia may be an independent risk factor for acne vulgaris. Detection of serum HCY is important for acne patients.


Assuntos
Acne Vulgar/sangue , Homocisteína/sangue , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Fatores de Risco , Índice de Gravidade de Doença , Adulto Jovem
11.
J Med Genet ; 54(10): 685-692, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28705883

RESUMO

BACKGROUND: Copy number variation (CNV) is a valuable source of genetic diversity in the human genome and a well-recognised cause of various genetic diseases. However, CNVs have been considerably under-represented in population-based studies, particularly the Han Chinese which is the largest ethnic group in the world. OBJECTIVES: To build a representative CNV map for the Han Chinese population. METHODS: We conducted a genome-wide CNV study involving 451 male Han Chinese samples from 11 geographical regions encompassing 28 dialect groups, representing a less-biased panel compared with the currently available data. We detected CNVs by using 4.2M NimbleGen comparative genomic hybridisation array and whole-genome deep sequencing of 51 samples to optimise the filtering conditions in CNV discovery. RESULTS: A comprehensive Han Chinese CNV map was built based on a set of high-quality variants (positive predictive value >0.8, with sizes ranging from 369 bp to 4.16 Mb and a median of 5907 bp). The map consists of 4012 CNV regions (CNVRs), and more than half are novel to the 30 East Asian CNV Project and the 1000 Genomes Project Phase 3. We further identified 81 CNVRs specific to regional groups, which was indicative of the subpopulation structure within the Han Chinese population. CONCLUSIONS: Our data are complementary to public data sources, and the CNV map may facilitate in the identification of pathogenic CNVs and further biomedical research studies involving the Han Chinese population.


Assuntos
Povo Asiático/genética , Variações do Número de Cópias de DNA , Etnicidade/genética , Variação Genética , Genoma Humano , China , Humanos , Masculino
13.
J Assist Reprod Genet ; 33(8): 1099-104, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27233649

RESUMO

PURPOSE: Piwi-interacting RNAs (piRNAs) are a broad group of noncoding small RNAs that have important biological functions in germline cells and can maintain genome integrity via silencing of retrotransposons. In this study, we aimed to explore the associations between genetic variants of important genes involved in piRNA biogenesis and male infertility with spermatogenic impairment. METHODS: To this end, five single-nucleotide polymorphisms (SNPs) in the ASZ1, PIWIL1, TDRD1, and TDRD9 genes were genotyped by TaqMan allelic discrimination assays in 342 cases of nonobstructive azoospermia (NOA) and 493 controls. RESULTS: The SNP rs77559927 in TDRD1 was associated with a reduced risk of spermatogenic impairment. The genotypes TC and TC + CC showed odds ratios and 95 % confidence intervals of 0.73 (0.55-0.98, P = 0.034) and 0.73 (0.56-0.97, P = 0.030), respectively, in patients with NOA compared with those in the controls. CONCLUSION: Thus, our results provided the first epidemiological evidence supporting the involvement of TDRD1 genetic polymorphisms in piRNA processing genes in determining the risk of spermatogenic impairment in a Han Chinese population.


Assuntos
Azoospermia/congênito , Proteínas de Transporte/genética , Estudos de Associação Genética , Predisposição Genética para Doença , RNA Interferente Pequeno/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Proteínas Argonautas/genética , Povo Asiático/genética , Azoospermia/genética , Proteínas de Ciclo Celular , China , DNA Helicases/genética , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética , Espermatogênese/genética
14.
J Dermatol ; 42(3): 296-9, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25639454

RESUMO

This study was designed to investigate the relationship between plasma lipid profile and acne. Acne patients (n = 181) and healthy volunteers (n = 130) matched in terms of both age and sex were enrolled. Plasma total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol, low-density lipoprotein cholesterol (LDL-C) and lipoprotein (LP)(a) levels were measured. TC, LDL-C and LP(a) levels in male and female patients with severe acne were significantly higher than in the healthy control group (P < 0.05). TG in male patients with severe and moderate acne was significantly higher than in the healthy control group (P < 0.05). LP(a) in male and female patients with mild, moderate and severe acne was significantly higher than in the healthy control group (P < 0.05). The constituent ratio of male and female patients with TC, TG, LDL-C and LP(a) over the normal range was significantly higher than in the healthy control group. In this study, acne patients were frequently associated with abnormal lipid profile, providing a new basis for further exploration of the pathogenesis, as well as new treatments, of acne vulgaris.


Assuntos
Acne Vulgar/sangue , Lipídeos/sangue , Adolescente , Adulto , Estudos de Casos e Controles , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Feminino , Humanos , Lipoproteína(a)/sangue , Masculino , Índice de Gravidade de Doença , Fatores Sexuais , Triglicerídeos/sangue , Adulto Jovem
15.
Zhongguo Zhong Yao Za Zhi ; 39(5): 920-4, 2014 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-25204191

RESUMO

To investigate the influence of Anxin granules combined with tirofiban on acute myocardial infarction (AMI) Patients after elective percutaneous coronary intervention (PCI). One hundred and twenty AMI patients were randomly divided into treatment group and control group. The patients in the two groups were all given Tirofiban 30mins before PCI . The treatment group was added Anxin granules 30 mins before and after PCI. Tissue factor (TF) and von willebrand factor (vWF) were tested at 6 hours after operation. Syndromatology alteration of traditional Chinese medicine (TCM) and bleeding complications were observed at 4 weeks after operation. Both TF and vWF at 6 hours after operation of the treatment group was lower than the control group significantly (P < 0.01), while the condition of myocardial ischemia at 90 mins after operation of the treatment group was better than control group with significance. The syndromatology alteration of TCM especially spontaneous perspiration and hypodynamia of the treatment group were improved significantly compared to control group 4 weeks after operation. All patients in both groups had no bleeding complications and thrombopenia. The study suggests that Anxin granules combined with tirofiba can improve the clinical efficacy and the endothelial function of AMI patients after PCI with no increase in bleeding events.


Assuntos
Medicamentos de Ervas Chinesas/administração & dosagem , Infarto do Miocárdio/cirurgia , Hemorragia Pós-Operatória/tratamento farmacológico , Idoso , Angioplastia Coronária com Balão , Feminino , Humanos , Pessoa de Meia-Idade , Infarto do Miocárdio/complicações , Infarto do Miocárdio/metabolismo , Hemorragia Pós-Operatória/etiologia , Hemorragia Pós-Operatória/metabolismo , Hemorragia Pós-Operatória/prevenção & controle , Tromboplastina/metabolismo , Fator de von Willebrand/metabolismo
16.
Mol Genet Genomics ; 289(5): 755-63, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24737421

RESUMO

Rare copy number variations (CNVs) generated by human genomic rearrangements have been shown to play an important role in pathogenesis of human diseases and cancers. CNV breakpoint analysis can help define genomic location, genetic content and sequence structure of pathogenic CNVs. This process is vital to elucidate CNV mutational mechanism and etiology of CNV-associated disorders. However, it is technically challenging to map CNV breakpoints at base-pair level, especially in the genomic regions with sequence complexity. In this study, we developed a new method of capture and breakpoint approaching sequencing (CBAS) to efficiently obtain CNV breakpoint sequences. This strategy is independent of CNV structures and applicable to various CNV types. As was demonstrated in CNV-associated patients with neurological disorders, CBAS achieved fine mapping of breakpoint sequences for compound deletion, complex duplication, and translocation. Intriguingly, CBAS also revealed unexpected CNV complexity involving long-range DNA rearrangement. Our observations showed that CBAS is an efficient method for obtaining CNV breakpoint sequence and mapping insertional events as well. This method can facilitate the researches on CNV-associated human diseases and cancers. CBAS is also applicable to mapping the integration sites of retrovirus (such as HIV) and transgenes in model organisms.


Assuntos
Pontos de Quebra do Cromossomo , Variações do Número de Cópias de DNA , Análise Mutacional de DNA , Sequência de Bases , Cromossomos Humanos X/genética , Hibridização Genômica Comparativa , Duplicação Gênica , Rearranjo Gênico , Humanos , Deficiência Intelectual/genética , Proteína Proteolipídica de Mielina/genética , Doença de Parkinson/genética , Doença de Pelizaeus-Merzbacher/genética , Deleção de Sequência , Ubiquitina-Proteína Ligases/genética
17.
Clin Biochem ; 47(6): 409-16, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24345348

RESUMO

BACKGROUND: Recently, studies have focused on the association between the p22phox gene A640G polymorphism and coronary heart disease (CHD). However, the results are inconsistent. In this study, we aimed to further evaluate this association by using meta-analysis. METHODS: The PubMed, Embase, CBM, CNKI, WanFang and Chongqing VIP databases were searched for relevant articles. Hardy-Weinberg equilibrium (HWE) of the distribution of genotypes was tested using Pearson's chi-squared test. Odds ratios (ORs) with the corresponding 95% confidence intervals (CIs) were used to assess the strength of the association; Cochran's Q test and the I(2) statistic were used to evaluate heterogeneity. The random effects model and the fixed effects model were used according to heterogeneity; Begg's test and Egger's test were used to analyze publication bias. Sensitivity analysis was carried out to guarantee the stability of the results. Cumulative analysis was used to evaluate tendencies in the pooled OR. RESULTS: A total of eight articles including 3904 CHD cases and 3498 controls were included. A significant association between the A640G polymorphism and CHD was observed in codominant model 2 (AG versus AA: OR=0.86, 95% CI: 0.77-0.96). In the subgroup analysis, a significant association was observed between the A640G polymorphism and CHD in Caucasians, and in PB (population-based), non-PB, HWE (studies followed HWE) and non-HWE studies. CONCLUSIONS: Our results reveal that the A640G polymorphism may play a protective role in CHD.


Assuntos
Doença das Coronárias/enzimologia , Doença das Coronárias/genética , Predisposição Genética para Doença , NADPH Oxidases/genética , Polimorfismo de Nucleotídeo Único/genética , Comportamento de Redução do Risco , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Viés de Publicação
18.
Urology ; 80(1): 216-8, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22608796

RESUMO

To present a rare case of a patient probably with complete androgen insensitivity syndrome (CAIS) and studied its potential genetic cause. A 24-year-old woman with a normal-appearing vulva and vagina presented to us because of primary amenorrhea. Imaging studies showed no uterus or ovary development but inguinal cryptorchism. Histopathologic examination revealed normal testicular structures. Sequencing the CAIS-associated androgen receptor gene revealed a novel missense mutation of T to G (F698L). A novel androgen receptor gene mutation in the ligand binding domain was detected in the present patient with CAIS, supporting the important role of an androgen receptor defect in the etiology of CAIS.


Assuntos
Síndrome de Resistência a Andrógenos/genética , Mutação de Sentido Incorreto , Receptores Androgênicos/genética , Feminino , Humanos , Masculino , Adulto Jovem
19.
Acta Crystallogr Sect E Struct Rep Online ; 66(Pt 6): m624-5, 2010 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-21579281

RESUMO

In the title half-sandwich compound, [Ni(C(6)H(15)N(3))(H(2)O)(3)]Br(NO(3)), the central Ni(II) ion, lying on a threefold rotation axis, is six-coordinated by three amine N atoms from the face-capping triaza macrocycle and three water O atoms in a slightly distorted octa-hedral geometry. In the crystal, O-H⋯O hydrogen bonding and weak O-H⋯Br inter-actions associate the Ni(II) cations and the counter-ions into a three-dimensional supra-molecular network.

20.
Acta Crystallogr Sect E Struct Rep Online ; 66(Pt 2): m235-6, 2010 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-21579689

RESUMO

In the title compound, [Cu(C(3)H(5)N)(3)(C(12)H(18)N(6))](ClO(4))(2)·2H(2)O, the Cu(II) atom lies on a threefold rotation axis and is coordinated in a distorted N(6) octa-hedral environment by three tertiary amines from the tridentate chelating aza-macrocyclic ligand and three propionitrile mol-ecules. Inter-molecular non-classical C-H⋯N hydrogen bonding inter-links the [Cu(C(3)H(5)N)(3)(C(12)H(18)N(6))](2+) cations into a two-dimensional supra-molecular sheet extending along the ab plane. The crystal packing also exhibits weak C-H⋯O inter-actions.

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