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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 33-36, 2020 Jan 10.
Artigo em Chinês | MEDLINE | ID: mdl-31922592

RESUMO

OBJECTIVE: To explore hematological and genotypic characteristics of patients with hemoglobin E (Hb E) disorders from Yunnan Province. METHODS: One hundred individuals with Hb E disorders indicated by high performance liquid chromatography (HPLC) were subjected to genetic testing through multiple gap-PCR and reverse dot-blotting analysis. RESULTS: All patients were found to harbor a mutation to the 26th codon of the ß -globin chain (HBB: c.79G>A). Ninety patients were heterozygotes, and 10 co-inherited c.79G>A and an α -thalassemia mutation (7 α α /-α3.7, 2 α α /--SEA and 1 -α 3.7/-α3.7). Hematological characteristics of the heterozygotes were: Hb A2 (26.02±3.64)%, Hb F(1.35±1.25)%, MCV(78.83±4.68) fl, MCH(26±1.54) pg, MCHC (329.65±10.73) g/L, HGB (141.08±16.53) g/L, while that of the co-inherited cases was decided by the type of α -thalassemia mutation. CONCLUSION: Hb E can be effectively detected by HPLC. The type of α -thalassemia mutations will determine hematological features of co-inherited cases. Hb E disorders may be missed by relying only on routine blood test upon prenatal screening.


Assuntos
Hemoglobina E , Talassemia alfa , China , Feminino , Genótipo , Hemoglobina E/genética , Humanos , Mutação , Gravidez , Talassemia alfa/genética , Globinas beta/genética
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 71-74, 2020 Jan 10.
Artigo em Chinês | MEDLINE | ID: mdl-31922602

RESUMO

OBJECTIVE: To explore the molecular basis for an individual with ABO subtype. METHODS: The ABO phenotype of the proband was determined by convention serological testing. Exons 6 and 7 of the ABO gene were subjected to PCR amplification and bi-directional Sanger sequencing. Haplotypes for exons 6 and 7 of the proband was determined using an ABO haplotype-specific amplification and sequencing technique. RESULTS: Red blood cells of the proband showed a 4+ agglutination strength with anti-A or anti-H, no agglutination reaction with anti-A1, and a 3+ agglutination strength with anti-B. His serum had no reaction with standard A cells, O cells or self cells, but was weakly reactive with B cells at 4℃. The proband was assigned as an ABO subtype based on his serological features. Bi-directional sequencing of the ABO gene revealed heterozygosity of 261 G/del, 297AG, 526CG, 657CT, 703GA, 803GC and 930GA, and homozygosity of 796CC in the proband. Haplotype-specific amplification and sequencing showed that one of his alleles was ABO*O.01.01, and another contained a c.796A>C variation compared with the ABO*B.01 allele, which led to replacement of methionine by leucine at position 266. Searching the ABO allele database of International Society of Blood Transfusion suggested the variation to be a novel one. CONCLUSION: The c.796A>C variation in the ABO*B.01 allele probably underlies the CisAB subtype. Accurate identification of the ABO subtype requires combined use of serological method and genetic testing.


Assuntos
Sistema do Grupo Sanguíneo ABO , Variação Genética , Sistema do Grupo Sanguíneo ABO/genética , Alelos , Éxons , Genótipo , Humanos , Masculino , Fenótipo , Análise de Sequência de DNA
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 75-79, 2020 Jan 10.
Artigo em Chinês | MEDLINE | ID: mdl-31922603

RESUMO

OBJECTIVE: To assess the association of JAG2 gene single nucleotide polymorphisms with the occurrence of nonsyndromic cleft lip with or without cleft palate (NSCLP) among northwest Chinese population. METHODS: A case-control study was carried out on 301 NSCLP patients and 304 healthy controls. An iMLDR(TM) genotyping technique was used to detect three single nucleotide polymorphisms (SNPs) [rs741859 (T/C), rs11621316 (A/G) and rs1057744(C/T)] of the JAG2 gene. Allelic and genotypic frequencies and haplotypic distribution among the two groups were compared. RESULTS: A significant difference was found in the frequency of C and T alleles for rs741859 between the two groups. The CT genotype of rs741859 could significantly reduce the risk for NSCLP to 65% (P< 0.05) and the risk for cleft lip with or without cleft palate (CL/P) to 62% (P< 0.05). rs11621316 and rs1057744 are in the same linkage disequilibrium (LD) region with a high degree of linkage (γ 2> 0.8), whose distribution difference between the two groups was not statistically significant (P> 0.05). CONCLUSION: The CT genotype of the JAG2 gene rs741859 may confer a protective effect for NSCLP among northwest Chinese population.


Assuntos
Fenda Labial , Fissura Palatina , Proteína Jagged-2 , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , China , Fenda Labial/genética , Fissura Palatina/genética , Frequência do Gene , Genótipo , Humanos , Proteína Jagged-2/genética
4.
Zhonghua Er Ke Za Zhi ; 58(1): 35-40, 2020 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-31905474

RESUMO

Objective: To investigate the genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy (DEE). Methods: Clinical data including the manifestations and electroencephalogram of 8 children with KCNA2 variants treated in the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were collected and analyzed retrospectively. Results: Among the 8 epileptic patients with KCNA2 variants, 5 were males and 3 were females. The age of onset was from 1 day to 11 months. The age at last follow-up ranged from 4 months to 86 months. Two variants including c.1214C>T (loss-of-function) and c.1120A>G (gain-and loss-of-function) were identified. The variant of c.1214C>T was found in six patients (case 1-6). For these patients, the age of onset was from 5 to 11 months and they were characterized by multiple seizure types. All had focal seizures and had normal development before seizure onset with developmental regression after seizure onset. The first electroencephalogram showed epileptic discharges in Rolandic region in two, epileptic discharges in Rolandic region combined with generalized discharge in one, generalized discharge with posterior predominance in two (combined with or transferred to Rolandic region during the course) and epileptic discharges in posterior region combined with generalized discharge in one. And in 5 of them the Rolandic discharges developed into epileptic electrical status (ESES) during sleep. All the six patients were still treated with a combination of multiple antiepileptic drugs. Two of them had seizure controlled at 80 months and 68 months, respectively. The variant of c.1120A>G were identified in two of eight patients (case 7 and 8) and they had seizure onset on the 1st day after birth. Their epileptic seizures were frequent and difficult to control. They had remarkably developmental delay and microcephaly since birth. One case (case 8) had a wide forehead. They had frequent seizures up to the last follow-up. In case 7, the early electroencephalogram showed epileptic discharges in temporal region, and interictal electroencephalogram at 3 months of age showed multifocal discharge with posterior and temporal region predominance. In case 8, the early electroencephalogram was normal and electroencephalogram showed burst suppression at 2 months of age, and it developed epileptiform discharge in posterior region at 1 year of age. Conclusions: KCNA2 gene variants can lead to DEE with multiple seizures types. Among them, loss-of-function c.1214C>T is the most common, and these patients have seizure onset at infancy with Rolandic discharges tended to develop into to ESES pattern. The variant of c.1120A>G is a gain-of- and loss-of-function variant, patients with c.1120A>G have seizure onset in neonatal period, the phenotype overlaps with the former but is more severe.


Assuntos
Encefalopatias/genética , Epilepsia/diagnóstico , Canal de Potássio Kv1.2/genética , Convulsões , Idade de Início , Encéfalo/fisiopatologia , Encefalopatias/fisiopatologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/fisiopatologia , Epilepsia/complicações , Epilepsia/genética , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Estudos Retrospectivos
5.
Zhonghua Er Ke Za Zhi ; 58(1): 41-45, 2020 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-31905475

RESUMO

Objective: To evaluate the effectiveness of eradication therapy based on Helicobacter pylori (Hp) susceptibility and CYP2C19 genotype in children with refractory Hp infection. Methods: In this prospective observational cohort study, 156 children with Hp refractory to amoxicillin+clarithromycin+omeprazole triple regimen in Baoding Children's Hospital from December 2017 to May 2018 were enrolled. Ninety-two of them underwent Hp culture and CYP2C19 detection. Seventy-five cases with positive Hp culture were defined as culture successful group and were treated according to Hp susceptibility and CYP2C19 genotype. Seventeen cases with negative Hp culture were defined as culture failed group and were treated only based on the results of CYP2C19 genotype. Sixty-four children who did not have Hp culture and CYP2C19 gene testing were defined as the empirical eradication therapy group and were treated with quadruple regimen (amoxicillin+metronidazole+omeprazole+bismuth). Bacterial resistance, CYP2C19 polymorphism and therapeutic effectiveness between the three groups were compared using chi-square test. Results: Among the 75 positive Hp culture results, 72 (96%) were resistant to clarithromycin, 3 (4%) were resistant to metronidazole, 5 (7%) were resistant to levofloxacin, 5 (7%) were resistant to rifampicin, 1 (1%) was resistant to tetracycline, and none was resistant to amoxicillin and furazolidone. The CYP2C19 polymorphism in 92 patients showed that 43 (47%) were extensive metabolizer (EM), 9 (10%) were poor metabolizer (PM), and 40 (43%) were intermediate metabolizer (IM). In terms of the effectiveness, eradication rate in the culture successful group,culture failed group and empirical eradication therapy group were 99% (74/75), 88% (15/17) and 72% (46/64), respectively (χ(2)=21.325, P<0.05). The eradication rate in the culture successful group was significantly higher than that in empirical eradication therapy group (χ(2)=21.005, P<0.05), while there was no difference between empirical eradication therapy group and culture failed group (χ(2)=1.154, P=0.283). Conclusion: Eradication regimen based on bacterial susceptibility and CYP2C19 genotype should be considered in children with refractory Hp infection.


Assuntos
Citocromo P-450 CYP2C19/genética , Quimioterapia Combinada , Infecções por Helicobacter/tratamento farmacológico , Infecções por Helicobacter/genética , Helicobacter pylori/efeitos dos fármacos , Helicobacter pylori/genética , Omeprazol/uso terapêutico , Amoxicilina/uso terapêutico , Antibacterianos/uso terapêutico , Bismuto/uso terapêutico , Criança , Claritromicina/administração & dosagem , Claritromicina/uso terapêutico , Estudos de Coortes , Resistência a Medicamentos/genética , Feminino , Genótipo , Helicobacter pylori/isolamento & purificação , Humanos , Masculino , Metronidazol/uso terapêutico , Omeprazol/administração & dosagem , Polimorfismo Genético , Estudos Prospectivos , Resultado do Tratamento
7.
Zhonghua Yi Xue Za Zhi ; 100(2): 136-140, 2020 Jan 14.
Artigo em Chinês | MEDLINE | ID: mdl-31937054

RESUMO

Objective: Tuberous sclerosis complex (TSC) is a multi-system disease with TSC1 and TSC2 genes as the pathogenic genes. The purpose of our study was to analyze the gene mutation in patients with TSC with epilepsy as the main clinical manifestation. The relationship between genotype and phenotype, scalp EEG in patients was analyzed. Methods: The peripheral blood was extracted from 43 patients and their families. TSC gene was detected by second-generation sequencing. Long-term video EEG monitoring and MRI examination were performed to determine the onset area, seizure type and location of nodules. Results: 39 patients had TSC gene mutation, 4 patients did not detect the gene mutation.11 had TSC1 mutations and 28 had TSC2 mutations. 22 mutations were de novo. Patients with TSC2 mutations had earlier seizure and more nodules than patients with TSC1 mutations, but no significant difference in intelligence and spasm were observed. 28 patients had focal origin of scalp EEG, of which 85.7% of TSC2 mutations patients had focal origin. Conclusions: Patients of TSC2 mutations always has an early onset age. Although MRI shows multiple nodules, the onset of EEG is mainly focal origin.


Assuntos
Esclerose Tuberosa , Análise Mutacional de DNA , Eletroencefalografia , Genótipo , Humanos , Mutação , Fenótipo , Proteína 1 do Complexo Esclerose Tuberosa , Proteína 2 do Complexo Esclerose Tuberosa
8.
Anticancer Res ; 40(1): 27-34, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31892550

RESUMO

BACKGROUND/AIM: Even though prostate cancer (PCa) has good prognosis, there is a discrepancy in the risk among ethnic groups, with high morbidity in African American men. Single nucleotide polymorphisms (SNPs) in interleukin 10 (IL-10) have been associated with inflammation and cancer risk. We investigated the association of five SNPs in the IL-10 promoter with clinical features such as Gleason score and smoking. MATERIALS AND METHODS: A total of 413 DNA samples were obtained from a nested case-control study of African American males who were genotyped for 5 SNPs utilizing pyrosequencing. Multiple and binary logistic regression models were applied to analyze the clinical and genotypic data. RESULTS: rs12122923 and rs1800871 were associated with PCa risk. Smoking was also found to increase the risk of PCa by 1.6-fold. rs1800893 was found to be associated with lower grades for prostate cancer. CONCLUSION: IL-10 promoter polymorphisms might be a risk factor for PCa development in smoking subjects and PCa progression.


Assuntos
Afro-Americanos/genética , Interleucina-10/genética , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Neoplasias da Próstata/etiologia , Fumar/efeitos adversos , Idoso , Alelos , Biomarcadores , Estudos de Casos e Controles , Suscetibilidade a Doenças , Genótipo , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/patologia , Medição de Risco , Fatores de Risco
9.
Chemosphere ; 240: 124907, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31550592

RESUMO

Deciphering the mechanism of Cd accumulation in crops is imperative for minimizing soil-to-plant transfer of Cd to improve safe food production. Hydroponic experiments were performed examining Cd accumulation, growth performance and protein characteristics of two rice genotypes, Xiushui817 and Zheda821, with low and high grain Cd accumulation, respectively, under Cd stress and in the presence of Si. Xiushui817 had lower root-to-shoot Cd translocation and was more sensitive to Cd stress than Zheda821. Si reduced the shoot Cd content in both genotypes but more efficacy in Zheda821. Tandem mass tags (TMT)-based proteomic analysis identified 25 proteins associated with low grain Cd accumulation, including vacuolar H+-pyrophosphatase 1 (OVP1) that was up-regulated after Si addition in Zheda821. The sequence comparison of OVP1 showed one nucleotide difference in Xiushui817 relative to Zheda821 resulting in one amino acid. Overexpression of OVP1 reduced shoot Cd concentration and improved the growth of rice compared with WT under both control and Cd treatment. The results highlight the significant roles of OVP1 in both Cd accumulation and the Si-induced Cd reduction in rice. Our findings provide valuable insights into the molecular mechanism of low Cd accumulation and Si-induced decrease in Cd accumulation in rice. OVP1 could be used for transgenic overexpression in rice or other cereals for safe food production.


Assuntos
Cádmio/farmacocinética , Oryza/efeitos dos fármacos , Proteínas de Plantas/metabolismo , Pirofosfatases/metabolismo , Silício/farmacologia , Cádmio/toxicidade , Regulação da Expressão Gênica de Plantas , Genótipo , Hidroponia , Oryza/genética , Oryza/metabolismo , Proteínas de Plantas/genética , Brotos de Planta/efeitos dos fármacos , Brotos de Planta/metabolismo , Plantas Geneticamente Modificadas , Proteômica/métodos , Pirofosfatases/genética , Poluentes do Solo/farmacocinética
10.
Chemosphere ; 238: 124863, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31551201

RESUMO

Peripheral blood leukocyte telomere length in omethoate-exposed workers is related to environmental exposure and single nucleotide polymorphisms (SNPs) in genes including p21, GSTM1, miR-145, etc. However, the roles of SNPs in tankyrase (TNKS) gene in telomere length are still unknown. The aim of this study was to explore the association between SNPs in TNKS gene and telomere length in omethoate-exposed workers. Telomere length in peripheral blood leukocyte DNA from 180 omethoate-exposed workers and 115 healthy controls was measured using Real-time quantitative polymerase chain reaction (PCR). Genotyping of the selected functional and susceptible SNPs was performed by the flight mass spectrometry based on PCR and single-base extension. The analysis of covariance was performed to find effects of SNPs on telomere length. Generalized linear models were used to analyze the environment, gene, and interaction on telomere length. The results showed that telomere length in the CG + CC genotypes in rs1055328 in TNKS gene was significantly longer than that in the wild homozygous GG genotype both in exposure group (P = 0.017) and in control group (P = 0.038) after adjusting the covariates. The variables kept in the generalized linear models included omethoate-exposure (ß = 0.580, P = 0.001) and rs1055328 (CG + CC) in TNKS gene (ß = 0.339, P = 0.002). The study suggests that the prolongation of telomere length is associated with omethoate-exposure and the CG + CC genotypes in rs1055328 in TNKS gene.


Assuntos
Dimetoato/análogos & derivados , Exposição Ocupacional/efeitos adversos , Tanquirases/genética , Homeostase do Telômero/efeitos dos fármacos , Telômero/fisiologia , Adulto , Inibidor de Quinase Dependente de Ciclina p21/genética , DNA/genética , Dano ao DNA/efeitos dos fármacos , Dimetoato/toxicidade , Feminino , Genótipo , Glutationa Transferase/genética , Humanos , Leucócitos/citologia , Masculino , MicroRNAs/genética , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Telômero/genética
11.
Biosci Biotechnol Biochem ; 84(1): 76-84, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31478783

RESUMO

The circadian clock enables plants to adapt to their environment and control numerous physiological processes, including plant-pathogen interactions. However, it is unknown if the circadian clock controls nonhost resistance (NHR) in plants. To find out, we analyzed microarray data with the web-based tool DIURNAL to reveal that NHR-related genes show rhythmic expression patterns in the absence of a pathogen challenge. Our clock mutant analyses found that cca1-1 lhy-11 double mutant showed compromised NHR to Pyricularia oryzae, suggesting that two components of the circadian clock, CCA1 and LHY, are involved in regulating penetration resistance in Arabidopsis thaliana. By analyzing pen2 double mutants, we revealed that CCA1 contributes to time-of-day-dependent penetration resistance as a positive regulator and that LHY regulates post-penetration resistance as a positive regulator. Taken together, our results suggest that the circadian clock regulates the time-of-day-dependent NHR to P. oryzae and thus enables A. thaliana to counteract pathogen attacks.Abbreviations: EE: evening element; ETI: effector-triggered immunity; NHR: nonhost resistance; PAMP: pathogen-associated molecular pattern; PTI: PAMP-triggered immunity; SAR: systemic acquired resistance.


Assuntos
Proteínas de Arabidopsis/genética , Arabidopsis/microbiologia , Relógios Circadianos/genética , Ritmo Circadiano/genética , Proteínas de Ligação a DNA/genética , Resistência à Doença/genética , Magnaporthe/fisiologia , Fatores de Transcrição/genética , Regulação da Expressão Gênica de Plantas , Genótipo , Interações Hospedeiro-Patógeno , Mutação , N-Glicosil Hidrolases/genética , Fotoperíodo , Folhas de Planta/microbiologia , Temperatura Ambiente
12.
Equine Vet J ; 52(1): 98-103, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30991461

RESUMO

BACKGROUND: Salmonella enterica subsp. enterica serovar Abortusequi (S. Abortusequi) is a serotype restricted to equines, which produces abortion outbreaks. Nowadays the disease is being reported in different countries including Argentina thus generating an important impact in the equine industry. Molecular characterization of the 95 kb virulence plasmid and the spvC gene of S. Abortusequi demonstrated their importance in the pathogenicity of the serotype. In the last decades, high clonality of S. Abortusequi was identified in Japan, Mongolia and Croatia. OBJECTIVES: The aim of this work was to characterize S. Abortusequi isolates obtained in Argentina between 2011 and 2016 by virulence-gene profiling and pulsed-field gel electrophoresis. STUDY DESIGN: Case report. METHODS: S. Abortusequi isolates were studied by virulence-gene profiling and pulsed-field gel electrophoresis. RESULTS: Four virulence profiles and nine pulsed-field gel electrophoresis pulsotypes were identified among the 27 isolates included in the study. Different strains were found in the same outbreak and/or farm suggesting the presence of different sources of infection or mutation of isolates. MAIN LIMITATIONS: The number of related and nonrelated strains. More isolates may be necessary for a more intensive study. CONCLUSIONS: Most strains presented the same virulence profile, being positive for all the studied genes except gipA and sopE1, which are involved in intestinal virulence. Only few isolates showed different results in the same outbreak or farm. Unlike other studies, our results demonstrate a considerable diversity of S. Abortusequi pulsed-field gel electrophoresis pulsotypes, which suggests that different sources of infection may be involved within the same outbreak.


Assuntos
Genótipo , Doenças dos Cavalos/microbiologia , Salmonelose Animal/microbiologia , Salmonella enterica/genética , Animais , Argentina/epidemiologia , Doenças dos Cavalos/epidemiologia , Cavalos , Salmonelose Animal/epidemiologia , Salmonella enterica/classificação , Salmonella enterica/patogenicidade , Transcriptoma , Virulência
13.
BJOG ; 127(1): 99-105, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31502397

RESUMO

OBJECTIVE: To evaluate if the intraoperative human papillomavirus (IOP-HPV) test has the same prognostic value as the HPV test performed at 6 months after treatment of high-grade squamous intraepithelial lesion (HSIL) to predict treatment failure. DESIGN: Prospective cohort study. SETTING: Barcelona, Spain. POPULATION: A cohort of 216 women diagnosed with HSIL and treated with loop electrosurgical excision procedure (LEEP). METHODS: After LEEP, an HPV test was performed using the Hybrid Capture 2 system. If this was positive, genotyping was performed with the CLART HPV2 technique. The IOP-HPV test was compared with HPV test at 6 months and with surgical margins. MAIN OUTCOME MEASURE: Treatment failure. RESULTS: Recurrence rate of HSIL was 6%. There was a strong association between a positive IOP-HPV test, a positive 6-month HPV test, positive HPV 16 genotype, positive surgical margins and HSIL recurrence. Sensitivity, specificity, and positive and negative predictive values of the IOP-HPV test were 85.7, 80.8,24.0 and 98.8% and of the HPV test at 6 months were 76.9, 75.8, 17.2 and 98.0%. CONCLUSION: Intraoperative HPV test accurately predicts treatment failure in women with cervical intraepithelial neoplasia grade 2/3. This new approach may allow early identification of patients with recurrent disease, which will not delay the treatment. Genotyping could be useful in detecting high-risk patients. TWEETABLE ABSTRACT: IOP-HPV test accurately predicts treatment failure in women with CIN 2/3.


Assuntos
Neoplasia Intraepitelial Cervical/cirurgia , Detecção Precoce de Câncer/métodos , Eletrocirurgia , Infecções por Papillomavirus/diagnóstico , Neoplasias do Colo do Útero/cirurgia , Adulto , Alphapapillomavirus , Biomarcadores Tumorais/metabolismo , Neoplasia Intraepitelial Cervical/virologia , Colposcopia/estatística & dados numéricos , Feminino , Genótipo , Testes de DNA para Papilomavírus Humano/métodos , Humanos , Biópsia Guiada por Imagem , Cuidados Intraoperatórios/métodos , Recidiva Local de Neoplasia/virologia , Estudos Prospectivos , Sensibilidade e Especificidade , Falha de Tratamento , Neoplasias do Colo do Útero/virologia
14.
Arch Oral Biol ; 109: 104555, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31550570

RESUMO

OBJECTIVES: To assess the association between the promoter region of serotonin transporter (5-HTTLPR) gene polymorphism and recurrent aphthous stomatitis (RAS) occurrence. DESIGNS: We performed the meta-analysis to determine the potential association between 5-HTTLPR polymorphism and RAS. We retrieved revelant studies from the PubMed, Scopus, Embase, Web of Science and Cochrane Library databases up to January 2019. Data were analyzed for odd ratios with 95% confidence intervals using Revman 5.3 software. RESULTS: There were 4 studies in the meta-analysis, which included 291 RAS cases and 286 controls. It indicated a substantially augmented threat of RAS with respect to S vs. L (P =  0.005), SS vs. LL+LS (P < 0.0001) and SS vs. LL models (P < 0.00001), respectively. No heterogeneity was found between studies in all comparisons. CONCLUSIONS: The current meta-analysis provides evidence to prove the association between 5-HTTLPR polymorphism and RAS. Further studies should be performed to clarify the biochemical function and pathological role of 5-HTTLPR in the risk of RAS.


Assuntos
Regiões Promotoras Genéticas , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Estomatite Aftosa/genética , Genótipo , Humanos , Polimorfismo Genético , Recidiva
15.
J Sci Food Agric ; 100(2): 595-606, 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-31591721

RESUMO

BACKGROUND: Climate change has posed great challenges to rice production. Temperature and solar radiation show significant variations in central China. This study aims to analyze the responses of different rice genotypes to the variations of temperature and solar radiation in central China, and to find the way of identifying the optimal sowing date to improve and stabilize rice production. For this end, four rice genotypes (two Indica and two Japonica cultivars) were cultivated at two locations under irrigation conditions in 2 years with six sowing dates. RESULTS: We investigated variations of rice grain yield, resource use efficiency, average daily temperature and solar radiation during different phenological stages. Rice grain yield could increase by about 2-17% in central China. Compared with solar radiation, temperature was a more important factor affecting rice grain yield in central China. The grain yield showed great correlation with the means temperature during different phenological stages, especially during the first 20 days after heading (GT20). Besides our results demonstrated that the grain yield displayed slender variations when the GT20 was within 24.9-26.4 °C. However, GT20 was higher than 26.4 °C in most cases, which became more frequent due to climate changes. Analysis of climate change during the last 25 years revealed that the frequency of GT20 within 24.9-26.4 °C was increased by the delay of sowing date. CONCLUSION: We propose that delaying sowing date to achieve the optimal GT20 (24.9 °C-26.4 °C) can be an effective strategy to stabilize and improve rice grain yield and resource use efficiency in central China. © 2019 Society of Chemical Industry.


Assuntos
Produção Agrícola/métodos , Oryza/crescimento & desenvolvimento , Irrigação Agrícola , China , Mudança Climática , Genótipo , Oryza/genética , Oryza/metabolismo , Sementes/crescimento & desenvolvimento , Sementes/metabolismo , Temperatura Ambiente , Água/análise , Água/metabolismo
16.
J Sci Food Agric ; 100(2): 721-731, 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-31602648

RESUMO

BACKGROUND: Peanut (Arachis hypogaea L.) is an important economic food crop highly appreciated worldwide. Although peanut cultivation has been expanding to dry regions, with water stress during growth stages, current genotypes are not adapted to drought. This study aimed to identify and quantify the full range of polyphenols in five peanut genotypes with different degrees of drought tolerance developed by Embrapa (Brazil) using ultra-high-definition accurate-mass liquid chromatography-electrospray ionization-LTQ-Orbitrap-mass spectrometry. RESULTS: Fifty-eight polyphenols of the classes hydroxybenzoic acids, hydroxycinnamic acids, flavanols, flavonols and flavanones were identified and quantified using high mass accuracy data and confirmed by tandem mass spectrometric experiments. High-definition mass spectrometric analyses revealed nine phenolic compounds that have never been reported in peanuts before. Polyphenol assessment using multivariate analysis allowed identification of the level of similarities among the five peanut genotypes studied. CONCLUSION: Higher drought-tolerant genotypes exhibited higher content of flavonoids, which suggests a relationship between these compounds and drought tolerance traits. © 2019 Society of Chemical Industry.


Assuntos
Arachis/química , Polifenóis/química , Arachis/genética , Arachis/metabolismo , Brasil , Cromatografia Líquida de Alta Pressão/métodos , Ácidos Cumáricos , Secas , Flavonoides/química , Flavonoides/metabolismo , Genótipo , Polifenóis/metabolismo , Espectrometria de Massas por Ionização por Electrospray/métodos , Água/análise , Água/metabolismo
17.
Insect Sci ; 27(1): 69-85, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29797656

RESUMO

Bacterial endosymbionts have enabled aphids to adapt to a range of stressors, but their effects in many aphid species remain to be established. The bird cherry-oat aphid, Rhopalosiphum padi (Linnaeus), is an important pest of cereals worldwide and has been reported to form symbiotic associations with Serratia symbiotica and Sitobion miscanthi L-type symbiont endobacteria, although the resulting aphid phenotype has not been described. This study presents the first report of R. padi infection with the facultative bacterial endosymbiont Hamiltonella defensa. Individuals of R. padi were sampled from populations in Eastern Scotland, UK, and shown to represent seven R. padi genotypes based on the size of polymorphic microsatellite markers; two of these genotypes harbored H. defensa. In parasitism assays, survival of H. defensa-infected nymphs following attack by the parasitoid wasp Aphidius colemani (Viereck) was 5 fold higher than for uninfected nymphs. Aphid genotype was a major determinant of aphid performance on two Hordeum species, a modern cultivar of barley H. vulgare and a wild relative H. spontaneum, although aphids infected with H. defensa showed 16% lower nymph mass gain on the partially resistant wild relative compared with uninfected individuals. These findings suggest that deploying resistance traits in barley will favor the fittest R. padi genotypes, but symbiont-infected individuals will be favored when parasitoids are abundant, although these aphids will not achieve optimal performance on a poor quality host plant.


Assuntos
Afídeos/microbiologia , Enterobacteriaceae/fisiologia , Simbiose , Animais , Afídeos/genética , Afídeos/crescimento & desenvolvimento , Genótipo , Ninfa/genética , Ninfa/crescimento & desenvolvimento , Ninfa/microbiologia , Escócia
18.
Med Oral Patol Oral Cir Bucal ; 25(1): e61-e70, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31880291

RESUMO

BACKGROUND: Oral cancer associated with high risk (HPV-HR) human papilloma virus (HPV) has been increasing. HPV-HR has been associated with epithelial dysplasia, however, little information exists on its frequency in epithelial hyperplasia lesions. The aim of this study is to compare HPV genotypes in dysplastic and hyperplastic lesions of oral cavity. MATERIAL AND METHODS: Two hundred and fifty oral lesions: 131 dysplasia and 119 hyperplasia from two regions of Colombia were evaluated. One hundred seventy-four coming from urban area and 104 from a high risk population to oral cancer from a rural area. HPV was identified by qPCR and Twenty-four HPVs genotypes were evaluated by Luminex® technology. Logistic regressions were performed to establish the associations between HPV infections with oral dysplasia. RESULTS: Twenty-eight percent (70/250) of the samples were positives for any HPV and HPV-HRs were more frequently than low risk HPVs. HPV-16 was the most detected genotype (16%) followed by HPV-31, 53, 18 and 45. HPV, HPV-HRs and HPV-16 were only associated with dysplasia in urban area; OR 3.28 (CI 95% 1.49-7.17), OR 7.94 (CI 95% 2.97-21.2) and OR 5.90 (CI 95% 2.05-17). Individuals in rural area showed more HPV and HPV-HRs infection in hyperplasic lesions than urban population. The majority of HPV+ lesions had multi-type of HPV (52/70) and the urban individuals showed more genotypes than rural population. CONCLUSIONS: HPV-.HRs are frequently found in hyperplastic and dysplastic epithelial lesions. HPV-HRs and HPV-16 were associated with dysplasia in urban population. Rural high risk population and urban population differ in the frequency and variety of HPV genotypes.


Assuntos
Papillomaviridae , Infecções por Papillomavirus , Genótipo , Humanos , Hiperplasia
19.
Gene ; 725: 144163, 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-31639433

RESUMO

BACKGROUND: Previous studies have established that coronary artery disease is associated with excess inflammation. These studies have shown an elevation of both pro and anti-inflammatory cytokines in sufferers of coronary artery disease. There is increasing interest in the role played by the inflammasome Nod Like Receptor family pyrin domain containing 3 (NLRP3) in the aetiology of coronary artery disease. Increased severity of coronary artery disease correlates with higher levels of expression of NLRP3. Does NLRP3 polymorphisms play a role in the aetiology of coronary artery disease? METHOD: In a cohort of Vietnam War (n-299) veterans who have been previously exposed to trauma, NLRP3 polymorphisms were analysed for association with coronary calcium scores using analyses of variance. Independent t-test was used to analyse genotypes. In samples with a small representation of minor homozygotes, genotypes were combined and analysed using independent t-test. If any of the genotype analysis suggested the potential for a dominant or a recessive model the model was further explored. Hardy-Weinberg Equilibrium was calculated using Hardy-Weinberg equilibrium calculator including analysis for ascertainment bias. RESULTS: The NLRP3 polymorphism, rs10159239 was significantly associated (p = 0.001) with a higher raised coronary calcium score. The Single Nucleotide Polymorphism rs10159239 was examined by logistic regression with known risk factors for Coronary artery disease and remained significant (0.035). This is the first time rs10159239 A-allele has been associated with raised coronary calcium score. CONCLUSIONS: This is the first time rs10159239 A-allele has been associated with raised coronary calcium score. Further research is needed to replicate our results in larger well-characterised cohorts.


Assuntos
Doença da Artéria Coronariana/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Idoso , Idoso de 80 Anos ou mais , Alelos , Proteínas de Transporte/genética , Estudos de Coortes , Doença da Artéria Coronariana/metabolismo , Citocinas/genética , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Inflamação/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Veteranos , Guerra do Vietnã
20.
Zhonghua Nei Ke Za Zhi ; 59(1): 23-28, 2020 Jan 01.
Artigo em Chinês | MEDLINE | ID: mdl-31887832

RESUMO

Objective: To investigate the association of GNA11 gene polymorphisms with the risk of adult-onset non-surgical hypoparathyroidism (Ns-HypoPT). Methods: Genotyping of GNA11 single nucleotide polymorphisms (SNPs) (rs28685098, rs4806907, rs11084997 and rs78003011) was carried out in 203 patients and 209 healthy participants by sequenom MassArray iPLEX System. These SNPs are located in promoter and 3'untranslated region (3'UTR) of GNA11 gene, respectively. Results: Allele and genotype frequencies of rs11084997 in patients were significantly different from those of controls (genotype GG:60.5% vs. 49.8%, GC: 35.5% vs. 41.6%, CC: 4.0% vs. 8.6%, P=0.038; G allele 78.3% vs. 70.6%, C allele 21.7% vs. 29.4%, P=0.012), and the C allele of rs11084997 carriers had a lower risk to develops Ns-HypoPT in additive and dominant genetic models [OR=0.382 (0.160-0.915), 0.647 (0.437-0.957)]. CC-Haplotype formed by the minor alleles of rs4806907 and rs11084997 was associated with a decreased risk of Ns-HypoPT in additive, dominant and recessive genetic model [OR=0.317 (0.126-0.801), 0.640 (0.430-0.952), 0.367 (0.148-0.912)]. Conclusion: The minor allele C of rs11084997 in GNA11 gene promoter was associated with decreased risk of Ns-HypoPT in Chinese population.


Assuntos
Subunidades alfa de Proteínas de Ligação ao GTP/genética , Predisposição Genética para Doença , Hipoparatireoidismo/genética , Adulto , Alelos , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , China , Subunidades alfa de Proteínas de Ligação ao GTP/metabolismo , Frequência do Gene , Genótipo , Humanos , Hipoparatireoidismo/diagnóstico , Polimorfismo de Nucleotídeo Único
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