891 resultados para genetic risk factor


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It is now widely recognized that translation factors are involved in cancer development and that components of the translation machinery that are deregulated in cancer cells may become targets for cancer therapy. The eukaryotic Release Factor 3 (eRF3) is a GTPase that associates with eRF1 in a complex that mediates translation termination. eRF3a/GSPT1 first exon contains a (GGC)n expansion coding for proteins with different N-terminal extremities. Herein we show that the longer allele (12-GGC) is present in 5.1% (7/137) of the breast cancer patients analysed and is absent in the control population (0/135), corresponding to an increased risk for cancer development, as revealed by Odds Ratio analysis. mRNA quantification suggests that patients with the 12-GGC allele overexpress eRF3a/GSPT1 in tumor tissues relative to the normal adjacent tissues. However, using an in vivo assay for translation termination in HEK293 cells, we do not detect any difference in the activity of the eRF3a proteins encoded by the various eRF3a/GSPT1 alleles. Although the connection between the presence of eRF3a/GSPT1 12-GGC allele and tumorigenesis is still unknown, our data suggest that the presence of the 12-GGC allele provides a potential novel risk marker for various types of cancer.

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OBJECTIVE: To assess the effect of hospital of birth on neonatal mortality. METHODS: A birth cohort study was carried out in Pelotas, Southern Brazil, in 2004. All hospital births were assessed by daily visits to all maternity hospitals and 4558 deliveries were included in the study. Mothers were interviewed regarding potential risk factors. Deaths were monitored through regular visits to hospitals, cemeteries and register offices. Two independent pediatricians established the underlying cause of death based on information obtained from medical records and home visits to parents. Logistic regression was used to estimate the effect of hospital of birth, controlling for confounders related to maternal and newborn characteristics, according to a conceptual model. RESULTS: Neonatal mortality rate was 12.7‰ and it was highly influenced by birthweight, gestational age, and socioeconomic variables. Immaturity was responsible for 65% of neonatal deaths, followed by congenital anomalies, infections and intrapartum asphyxia. Adjusting for maternal characteristics, a three-fold increase in neonatal mortality was seen between similar complexity hospitals. The effect of hospital remained, though lower, after controlling for newborn characteristics. CONCLUSIONS: Neonatal mortality was high, mainly related to immaturity, and varied significantly across maternity hospitals. Further investigations comparing delivery care practices across hospitals are needed to better understand NMR variation and to develop strategies for neonatal mortality reduction.

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Non-suicidal self-injury (NSSI) is the deliberate, self-inflicted destruction of body tissue without suicidal intent and an important clinical phenomenon. Rates of NSSI appear to be disproportionately high in adolescents and young adults, and is a risk factor for suicidal ideation and behavior. The present study reports the psychometric properties of the Impulse, Self-harm and Suicide Ideation Questionnaire for Adolescents (ISSIQ-A), a measure designed to comprehensively assess the impulsivity, NSSI behaviors and suicide ideation. An additional module of this questionnaire assesses the functions of NSSI. Results of Confirmatory Factor Analysis (CFA) of the scale on 1722 youths showed items' suitability and confirmed a model of four different dimensions (Impulse, Self-harm, Risk-behavior and Suicide ideation) with good fit and validity. Further analysis showed that youth׳s engagement in self-harm may exert two different functions: to create or alleviate emotional states, and to influence social relationships. Our findings contribute to research and assessment on non-suicidal self-injury, suggesting that the ISSIQ-A is a valid and reliable measure to assess impulse, self-harm and suicidal thoughts, in adolescence.

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OBJECTIVE: To analyze household risk factors associated with high lead levels in surface dental enamel. METHODS: A cross-sectional study was conducted with 160 Brazilian adolescents aged 14-18 years living in poor neighborhoods in the city of Bauru, southeastern Brazil, from August to December 2008. Body lead concentrations were assessed in surface dental enamel acid-etch microbiopsies. Dental enamel lead levels were measured by graphite furnace atomic absorption spectrometry and phosphorus levels were measured by inductively coupled plasma optical emission spectrometry. The parents answered a questionnaire about their children's potential early (05 years old) exposure to well-known lead sources. Logistic regression was used to identify associations between dental enamel lead levels and each environmental risk factor studied. Social and familial covariables were included in the models. RESULTS: The results suggest that the adolescents studied were exposed to lead sources during their first years of life. Risk factors associated with high dental enamel lead levels were living in or close to a contaminated area (OR = 4.49; 95% CI: 1.69;11.97); and member of the household worked in the manufacturing of paints, paint pigments, ceramics or batteries (OR = 3.43; 95% CI: 1.31;9.00). Home-based use of lead-glazed ceramics, low-quality pirated toys, anticorrosive paint on gates and/or sale of used car batteries (OR = 1.31; 95% CI: 0.56;3.03) and smoking (OR = 1.66; 95% CI: 0.52;5.28) were not found to be associated with high dental enamel lead levels. CONCLUSIONS: Surface dental enamel can be used as a marker of past environmental exposure to lead and lead concentrations detected are associated to well-known sources of lead contamination.

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OBJETIVO: To assess factors associated with a low risk perception of zoonoses and to identify the gaps in knowledge about transmission and prevention of zoonoses in immigrant and Italian workers. MÉTODOS: A cross-sectional study with 175 workers in the agro-livestock and agro-food industry in Piemonte, Italy, was carried out. Data were collected with a semi-structured questionnaire based on knowledge, attitudes and practices (KAP) survey. We calculated proportions and used chi-square tests and odds ratios to assess associations. Eight individual interviews with key informants on immigration and public health in Piemonte were carried out. RESULTADOS: Participants were 82 (47%) Italians and 93 (53%) immigrants. Immigrants were from Romania, Morocco, Albania, India, China, Argentina, Peru, Macedonia, Ivory Coast, Ukraine and Colombia. The study revealed significant differences in risk perception at work (p = 0.001). We found associations between "not having correct knowledge about zoonoses" and the following variables: i. "being immigrant" OR = 4.1 (95%CI 1.7;9.8 p ≤ 0.01); ii. "working in the livestock industry" OR = 2.9 (95%CI 1.2;15.4 p = 0.01); and iii. "being an unqualified worker" OR = 4.4 (95%CI 2.9;15.4 p ≤ 0.01). Another strong association was found between being immigrant and having a low job qualification OR = 6.7 (IC95% 2.9 - 15.4 p ≤ 0.01). Asian immigrants were the group with the highest frequency of risky behaviours and the lowest level of knowledge about zoonoses. CONCLUSÕES: Our results indicate that there were differences in risk perception of zoonoses between the groups participating in our study. These results suggest that immigrant status can be considered a risk factor for having lower risk perception and lower level of knowledge of zoonoses at work. There is a relationship between this specific knowledge of zoonoses and lack of training and instruction among migrant populations. Our results stress the need for developing education programs on zoonoses prevention among the immigrant population in Piemonte, Italy.

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Contrary to fungi, exposure to mycotoxins is not usually identified as a risk factor present in occupational settings. This is probably due to the inexistence of limits regarding concentration of airborne mycotoxins, and also due to the fact that these compounds are rarely monitored in occupational environments. Aflatoxin B1 (AFB1) is the most prevalent aflatoxin and is associated with carcinogenicity, teratogenicity, genotoxicity and immunotoxicity but only a few studies examined exposure in occupational settings. Workers can be exposed to high airborne levels during certain operations in specific occupational settings. Aim of study: The study aimed to assess exposure to AFB1 in three settings: poultry, swine production and waste management.

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Fungi are essential to the survival of our global ecology, but they might pose a significant threat to the health of occupants when they grow in our buildings. The exposure to fungi in homes is a significant risk factor for a number of respiratory symptoms. Well-known illnesses caused by fungi include allergy and hypersensitivity pneumonitis. Environmental monitoring for fungi and their disease agents are important aspects of exposure assessment, but few guidelines exist for interpreting their health impacts. This book answers the questions: How does one detect and measure the presence of indoor fungi? What is an acceptable level of indoor fungi? How do we relate this information to human health problems?

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ABSTRACT OBJECTIVE To analyze the scientific literature about the effects of exposure to psychosocial risk factors in work contexts. METHODS A systematic review was performed using the terms “psychosocial factors” AND “COPSOQ” in the databases PubMed, Medline, and Scopus. The period analyzed was from January 1, 2004 to June 30, 2012. We have included articles that used the Copenhagen Psychosocial Questionnaire (COPSOQ) as a measuring instrument of the psychosocial factors and the presentation of quantitative or qualitative results. German articles, psychometric studies or studies that did not analyze individual or work factors were excluded. RESULTS We included 22 articles in the analysis. Individual factors, such as gender, age, and socioeconomic status, were analyzed along with work-related factors such as labor demands, work organization and content, social relationships and leadership, work-individual interface, workplace values, justice and respect, personality, health and well-being, and offensive behaviors. We analyzed the sample type and the applied experimental designs. Some population groups, such as young people and migrants, are more vulnerable. The deteriorated working psychosocial environment is associated with physical health indicators and weak mental health. This environment is also a risk factor for the development of moderate to severe clinical conditions, predicting absenteeism or intention of leaving the job. CONCLUSIONS The literature shows the contribution of exposure to psychosocial risk factors in work environments and their impact on mental health and well-being of workers. It allows the design of practical interventions in the work context to be based on scientific evidences. Investigations in specific populations, such as industry, and studies with more robust designs are lacking.

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The author emphasizes the importance of the congenital transmission of Chagas' disease and discusses the possible risk factors for transmission such as age, origin, obstetrical history and maternal form of disease. Exacerbation of infection during pregnancy is also considered as a possible risk factor for transmission. Besides, a relationship between the frequency of transmission and gestational age is presented. Concerning breast-feeding, the risk of transmission is directly related to the acute phase of maternal disease and bleeding nipples. The deleterious effects of chagasic infection on the fetus and newborn are also considered.

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A seroepidemiologic survey about hepatitis A virus (HAV) infection was carried out in a group comprising 310 children, ranging in age from 3 months to 9 years, from day-care centers, in Goiania, a middle sized city in the central region of Brazil. The biomarkers employed in the investigation of previous infection include total IgG and IgM anti-HAV antibodies, and for the detection of more recent infection, IgM anti-HAV antibodies were analyzed. The study was performed in 1991 and 1992. According to the results, 69.7% of the children presented total IgG/IgM anti-HAV antibodies, with 60% of the group in the age range of 1 to 3 years. Among 10 day-care centers analyzed, the prevalence of the biomarker IgM anti-HAV was 3.2%, with an uniform distribution of the cases in the group of children ranging in age from 1 to 4 years. Multi-variate analysis was performed to investigate the sociodemographic factors that could influence the results. It was verified that the risk for the infection increased with the length of the attendance in the day-care centers, i.e., the risk for children with attendance of one year or more was 4.7 times higher, when compared with children with one month attendance (CI 95% 2.3-9.9). According to the results, hepatitis A is an endemic infection in day-care centers in the study area. The length of attendance in the day-care settings was demonstrated to be a risk factor for the HAV infection. Such findings suggest that if hepatits A vaccination becomes available as a routine policy in our region, the target group should be children under one year. Moreover, those children should receive the vaccine before they start to attend the day-care centers.

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Epidemiologic studies have reported an inverse association between dairy product consumption and cardiometabolic risk factors in adults, but this relation is relatively unexplored in adolescents. We hypothesized that a higher dairy product intake is associated with lower cardiometabolic risk factor clustering in adolescents. To test this hypothesis, a cross-sectional study was conducted with 494 adolescents aged 15 to 18 years from the Azorean Archipelago, Portugal. We measured fasting glucose, insulin, total cholesterol, high-density lipoprotein cholesterol, triglycerides, systolic blood pressure, body fat, and cardiorespiratory fitness. We also calculated homeostatic model assessment and total cholesterol/high-density lipoprotein cholesterol ratio. For each one of these variables, a z score was computed using age and sex. A cardiometabolic risk score (CMRS) was constructed by summing up the z scores of all individual risk factors. High risk was considered to exist when an individual had at least 1 SD from this score. Diet was evaluated using a food frequency questionnaire, and the intake of total dairy (included milk, yogurt, and cheese), milk, yogurt, and cheese was categorized as low (equal to or below the median of the total sample) or “appropriate” (above the median of the total sample).The association between dairy product intake and CMRS was evaluated using separate logistic regression, and the results were adjusted for confounders. Adolescents with high milk intake had lower CMRS, compared with those with low intake (10.6% vs 18.1%, P = .018). Adolescents with appropriate milk intake were less likely to have high CMRS than those with low milk intake (odds ratio, 0.531; 95% confidence interval, 0.302-0.931). No association was found between CMRS and total dairy, yogurt, and cheese intake. Only milk intake seems to be inversely related to CMRS in adolescents.

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The objective of this study was to evaluate the prevalence and risk factors associated with HCV infection in a group of HIV seropositive patients. We analyzed the medical records of 1,457 patients. All patients were tested for HCV infection by third generation ELISA. Whenever possible, a sample of the positive patients was also tested for HCV by PCR. HCV positive patients were analyzed according to their risk factors for both infections. The prevalence of anti-HCV positive patients was 17.7% (258 patients). Eighty-two (82) of these patients were also tested by PCR and 81 were positive for HCV virus (98%). One hundred fifty-one (58.5%) were intravenous drug users (IDU); 42 (16.3%) were sexual partners of HIV patients; 23 (8.9%) were homosexual males; 12 (4.7%) had received blood transfusion; 61 (17.5%) had promiscuous sexual habits; 14 (5.4%) denied any risk factor; 12 (4.7%) were sexual partners of IDU. Two hundred four patients mentioned only one risk factor. Among them, 28 (10.9%) were sexual partners of HIV-positive patients. Although intravenous drug use was the most important risk factor for co-infection, sexual transmission seemed to contribute to the high HCV seroprevalence in this group of patients.

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A implantação de piercings corporais tem sido uma prática cada vez mais comum nas últimas décadas, sobretudo entre os mais jovens. No entanto, não se trata de um procedimento inócuo, podendo apresentar complicações tão graves como a endocardite infecciosa, que pode surgir em indivíduos com ou sem cardiopatia de base. Neste artigo relatamos o caso de uma endocardite pós piercing numa jovem com pacemaker definitivo, tendo havido necessidade de intervenção cirúrgica. Fazemos igualmente uma revisão dos casos de endocardite pós piercing descritos na literatura. Agora que as recomendações da American Heart Association para a profilaxia de endocardite infecciosa estão mais restritas, discutimos a necessidade de inclusão dos piercings corporais nos procedimentos a merecerem terapêutica profiláctica nos indivíduos de alto risco.

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Both hepatitis B and hepatitis C viruses (HBV and HCV) infection are common in HIV-infected individuals as a result of shared risk factors for acquisition. A serological study for HBV and HCV was performed in 251 HIV-positive individuals from Medellín, Colombia. A qualitative RT-PCR for HCV was done in 90 patients with CD4+ T-cell count < 150 per mm³. Serological markers for HBV infection were present in 97 (38.6%) patients. Thirty six of them (37.1%) had isolated anti-HBc. A multivariate analysis indicated that the following risk factors were significantly associated with the presence of these markers: age (OR = 1.05, 95% CI: 1.01-1.08), pediculosis pubis (OR = 1.83, 95% CI: 1.01-3.33), men who have sex with men and women (OR = 3.23, 95% CI: 1.46-7.13) and men who have sex only with men (OR = 3.73, 95% CI: 1.58-8.78). The same analysis restricted to women showed syphilis as the only significant risk factor. Thus, HBV infection was considerably associated with high risk sexual behavior. HCV was present in only two (0.8%) of HIV patients. Both of them were positive by RT-PCR and anti-HCV. This low frequency of HIV/HCV coinfection was probably due to the uncommon intravenous drug abuse in this population. The frequent finding of isolated anti-HBc warrants molecular approaches to rule out the presence of cryptic HBV infection.

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A case-control study, involving patients with positive blood cultures for Klebsiella pneumoniae (KP) or Escherichia coli (EC) EC and controls with positive blood cultures for non-ESBL-KP or EC, was performed to assess risk factors for extended-spectrum-β-lactamase (ESBL) production from nosocomial bloodstream infections (BSIs). Mortality among patients with BSIs was also assessed. The study included 145 patients (81, 59.5% with K. pneumoniae and 64, 44.1% with E. coli BSI); 51 (35.2%) isolates were ESBL producers and 94 (64.8%) nonproducers. Forty-five (55.6%) K. pneumoniae isolates were ESBL producers, while only six (9.4%) E. coli isolates produced the enzyme. Multivariate analysis showed that recent exposure to piperacillin-tazobactam (adjusted Odds Ratio [aOR] 6.2; 95%CI 1.1-34.7) was a risk factor for ESBL BSI. K. pneumoniae was significantly more likely to be an ESBL-producing isolate than E. coli (aOR 6.7; 95%CI 2.3-20.2). No cephalosporin class was independently associated with ESBLs BSI; however, in a secondary model considering all oxymino-cephalosporins as a single variable, a significant association was demonstrated (aOR 3.7; 95%CI 1.3-10.8). Overall 60-day mortality was significantly higher among ESBL-producing organisms. The finding that piperacillin-tazobactam use is a risk factor for ESBL-production in KP or EC BSIs requires attention, since this drug can be recommended to limit the use of third-generation cephalosporins.