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1.
Artigo em Inglês | MEDLINE | ID: mdl-36554336

RESUMO

Environmental noise is considered one of the main risks for physical and mental health and well-being, with a significant associated burden of disease in Europe. This work aims to explore the main sources of noise exposure at home and its effect on well-being in northern Spain. A transversal opinion study has been performed through a closed questionnaire. The questionnaire included three different parts: sociodemographic data, noise disturbance, and the 5-item World Health Organization Well-Being Index (WHO-5). A Binary Logistics Regression model was performed to analyze the relationship between noise exposure and well-being. Overall, 16.6% of the participants consider that the noise isolation of their homes is bad or very bad. The noise generated by the neighbors (air and impact noise) is considered the most disturbing indoor noise source, while street works are the most disturbing outdoor noise source in urban areas and road traffic is the most disturbing in rural areas. People who indicate that noise interferes with their life at home have a worse score on the WHO-5 (decreased perception of well-being). The exposure to outdoor noise (specifically the noise coming from the street and trains), internal impact noise produced by neighbors, and in general, the noise that wakes you up, is related to receiving a worse score in the WHO-5 (p < 0.05). Administrative bodies must ensure that laws regulating at-home noise levels, which are continually being updated with stricter restrictions, are enforced.


Assuntos
Poluentes Atmosféricos , Exposição Ambiental , Humanos , Exposição Ambiental/análise , Poluentes Atmosféricos/análise , Espanha , Ruído , Inquéritos e Questionários
2.
Artigo em Inglês | MEDLINE | ID: mdl-36497948

RESUMO

Suicide is a major public health problem the prevention of which has become a priority, and, to this end, knowledge of its risk factors is essential. This study aims to evaluate the impact of some social, medico-legal, and clinical issues on suicide deaths. A total of 135 cases were identified as suicides that occurred in a region of northern Spain between 2018 and 2020. Controls (three for each case) were matched by age, sex, and urban-rural areas. The information was collected retrospectively through electronic health record systems. A binary logistic regression analysis was performed to study the association between individual risk factors and suicide. Being male (78.5%), between 40 and 60 years of age, unmarried (70.9%), and unemployed (85%) were associated with suicide deaths. Although the existence of a previous self-harm attempt is presented as the most robust risk factor (OR 22.121 [8.997-54.389]), the presence of a psychiatric diagnosis (OR 12.583 [7.686-20.601]) and cancer (OR 3.729 [1.845-7.536]) also showed a significant relationship with suicide (p < 0.05). Defining and knowing the risk factors for suicide helps to better understand the profiles of those individuals who are vulnerable, and enables prevention actions to be taken in both social and medical spheres.


Assuntos
Suicídio , Humanos , Masculino , Feminino , Suicídio/psicologia , Estudos de Casos e Controles , Estudos Retrospectivos , Espanha/epidemiologia , Fatores de Risco
3.
Environ Res ; 206: 112261, 2022 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-34687752

RESUMO

Knowing the transmission factors and the natural environment that favor the spread of a viral infection is crucial to stop outbreaks and develop effective preventive strategies. This work aims to evaluate the role of Particulate Matter (PM) in the COVID-19 pandemic, focusing especially on that of PM as a vector for SARS-CoV-2. Exposure to PM has been related to new cases and to the clinical severity of people infected by SARS-CoV-2, which can be explained by the oxidative stress and the inflammatory response generated by these particles when entering the respiratory system, as well as by the role of PM in the expression of ACE-2 in respiratory cells in human hosts. In addition, different authors have detected SARS-CoV-2 RNA in PM sampled both in outdoor and indoor environments. The results of various studies lead to the hypothesis that the aerosols emitted by an infected person could be deposited in other suspended particles, sometimes of natural but especially of anthropogenic origin, that form the basal PM. However, the viability of the virus in PM has not yet been demonstrated. Should PM be confirmed as a vector of transmission, prevention strategies ought to be adapted, and PM sampling in outdoor environments could become an indicator of viral load in a specific area.


Assuntos
COVID-19 , Material Particulado , Humanos , Pandemias , Material Particulado/toxicidade , RNA Viral , SARS-CoV-2
4.
Sci Justice ; 61(2): 175-179, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33736850

RESUMO

Scientific and technological progress in the field of forensic genetics is very useful in the resolution of criminal cases, but it entails the need for a deep ethical reflection, as the individual Fundamental Rights may be violated. This project aims to collect and compare the opinion of prisoners and prison officials on what characteristics the country's forensic database should have. In this context, 210 subjects were surveyed, 101 of them prisoners and the rest prison officials, from three different Spanish penitentiary centers. Among the results obtained, most prisoners and officials consider the national DNA database to be useful, and additionally, a 40% of the participants would support the integration of the profiles of the entire population. 64% considered it ethical to use the DNA profiles of the database as a tool for familial searching. Despite this, half of the respondents are concerned about the future uses of the DNA database. Integrating the opinion of these analyzed groups with other relevant judicial, scientific and ethical convictions, ensures the regulation between security and individual's Human Rights.


Assuntos
Genética Forense , Prisões , Impressões Digitais de DNA , Bases de Dados de Ácidos Nucleicos , Genética Forense/métodos , Humanos , Espanha
5.
Int J Biometeorol ; 65(3): 429-436, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33029653

RESUMO

Spain is the EU member country with the third highest total number of accidents in work and has the third highest incidence rate. We have performed a descriptive analysis of occupational accidents in the Community of Madrid (Spain) between 2005 and 2013 to study the impact of air quality on the prevalence of occupational accidents, clarifying how vulnerable to air pollution outdoor workers are. In order to evaluate the association between each air pollutant and work accidents, a quasi-Poisson generalized additive model was fitted. The accident rate followed a downward and statistically significant trend (p = 0.001). The year with the highest accident rate was 2006, with 4981 occupational accidents per 100,000. Occupational accidents follow a temporary pattern (there are differences in the number of accidents according to the month of the year and to the day of the week). Exposure to PM10 and NO2 increases the risk of having an accident at work, especially for outdoor workers. An increase of 10 µg/m3 in daily concentration resulted in increases in accidents for outdoor workers of 2.5% for PM10 and 6.4% for NO2.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Acidentes de Trabalho , Poluentes Atmosféricos/análise , Poluição do Ar/efeitos adversos , Poluição do Ar/análise , Exposição Ambiental/análise , Humanos , Dióxido de Nitrogênio/análise , Material Particulado/análise , Espanha/epidemiologia
6.
Forensic Sci Int ; 302: 109862, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31255838

RESUMO

Biological vestiges are used in forensic science to resolve a large number of cases by typing the genetic profile and identifying the individual to whom it belongs. However, chimeric persons that possess cells with two or more different DNA make these types of analyses difficult. This situation can occur naturally, by errors in the fertilization or early embryogenesis, or in an artificial way, for example after hematopoietic stem cell transplantation (HSCT), when host and donor cells coexist in the patient. In this paper, we will specially focus on the latter. The vestiges from transplant patients represent a challenge from a forensic perspective since the interpretation of the genetic fingerprint can be misleading because of the presence of chimerism. Due to the high number of transplant patients (and their increase over the years) and the existence of natural chimeras (probably many of them hidden), it is necessary to consider whether we are facing a possible chimeric person or someone who has been a donor of hematopoietic stem cells in a forensic context. In this review, the presence of donor bone marrow derived cells in some tissues of forensic interest will be discussed. Finally, to emphasize the importance of chimerism after HSCT in forensic genetics, some real-life cases will be examined.


Assuntos
Quimerismo , Impressões Digitais de DNA , Transplante de Células-Tronco Hematopoéticas , Células Apresentadoras de Antígenos/fisiologia , Análise Química do Sangue , Plasticidade Celular/fisiologia , Genética Forense , Folículo Piloso/química , Humanos , Masculino , Repetições de Microssatélites , Mucosa Bucal/química , Unhas/química , Polimorfismo de Nucleotídeo Único , Pele/química , Espermatozoides/química , Urina/química
7.
Environ Res ; 173: 349-358, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30953949

RESUMO

The understanding of the role of environment on the pathogenesis of stroke is gaining importance in the context of climate change. This study analyzes the temporal pattern of ischemic stroke (IS) in Madrid, Spain, during a 13-year period (2001-2013), and the relationship between ischemic stroke (admissions and deaths) incidence and environmental factors on a daily scale by using a quasi-Poisson regression model. To assess potential delayed and non-linear effects of air pollutants and Apparent Temperature (AT), a biometeorological index which represents human thermal comfort on IS, a lag non-linear model was fitted in a generalized additive model. The mortality rate followed a downward trend over the studied period, however admission rates progressively increased. Our results show that both increases and decreases in AT had a marked relationship with IS deaths, while hospital admissions were only associated with low AT. When analyzing the cumulative effects (for lag 0-14 days), with an AT of 1.7 °C (percentile 5%) a RR of 1.20 (95% CI, 1.05-1.37) for IS mortality and a RR of 1.09 (95% CI, 0.91-1.29) for morbidity is estimated. Concerning gender differences, men show higher risks of mortality in low temperatures and women in high temperatures. No significant relationship was found between air pollutant concentrations and IS morbi-mortality, but this result must be interpreted with caution, since there are strong spatial fluctuations of the former between nearby geographical areas that make it difficult to perform correlation analyses.


Assuntos
Poluição do Ar/estatística & dados numéricos , Exposição Ambiental/estatística & dados numéricos , Acidente Vascular Cerebral/epidemiologia , Temperatura , Poluentes Atmosféricos , Isquemia Encefálica , Feminino , Humanos , Masculino , Espanha
8.
Forensic Sci Med Pathol ; 15(2): 178-183, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30535913

RESUMO

Humans constantly lose epithelial cells, and these biological traces are frequently studied in the context of criminal investigations. The objective of this work was to examine the genetic profile in samples of forensic interest (nail and skin epithelial cells) of bone marrow transplant patients and discuss its forensic and clinical implications. The genetic profile of nail, epidermal cells and blood samples of patients receiving HSCT was analyzed by the amplification and sequencing of 38 insertion/deletion polymorphisms and 15 short tandem repeat polymorphisms. In this analysis, the age of patients and donors, the time elapsed from the transplant, the type of conditioning prior to the transplant and whether the patient suffered graft-versus-host disease were considered. Donor chimerism can be detected in the DNA extracted from nail and skin epithelial cells of transplant patients. No statistically significant correlation was found between the type of conditioning and the percentage of donor DNA in nail (p > 0.05). A positive correlation, without statistical significance, was encountered when we analyzed the relationship between the time elapsed from the transplant with the percent donor chimerism found in epithelial cells of the epidermis and in nails. We conclude that within a judicial context (e.g. when testifying as an expert witness) it is necessary to consider whether we are facing a possible transplant patient or a person who has been a bone marrow donor.


Assuntos
Transplante de Medula Óssea , Quimerismo , Impressões Digitais de DNA , Células Epiteliais/química , Transplantados , Adulto , Idoso , Genótipo , Humanos , Repetições de Microssatélites , Pessoa de Meia-Idade , Unhas/citologia , Polimorfismo Genético , Pele/citologia , Fatores de Tempo , Adulto Jovem
9.
Int J Biometeorol ; 62(11): 2063-2064, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30242474

RESUMO

A person's death is deemed unnatural when it is the result of an external force. This definition, however, does not apply when the cause of death is a respiratory or cardiovascular process triggered by a high concentration of an air pollutant, even if other deaths from toxicological causes (poisonings, overdoses, etc.) are. The distinction between natural and unnatural cause of death, although not internationally standardized, is critical in determining wrongfulness and liability, which in turn can have financial and/or legal repercussions. Even though the World Health Organization and other medical and scientific organizations have shown that air pollution contributes to several million deaths every year, there are currently no practical means to determine whether a person was subjected to high concentrations of atmospheric pollution before their death; indeed, the ability to find evidence of this type of exposition could prove very interesting from a forensic standpoint.


Assuntos
Poluentes Atmosféricos/toxicidade , Causas de Morte , Responsabilidade Legal , Poluição do Ar , Humanos , Fatores de Tempo
10.
Cult Med Psychiatry ; 42(3): 647-653, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29619616

RESUMO

Suicide is a serious public health problem around the world. Since the nineteenth century, the impact of socio-environmental factors on suicide has attracted much public attention, especially in the context of global climate change. We have performed a retrospective correlation study that analyzes the demographic pattern of suicide in Cantabria, a northern coastland region of Spain. Moreover, we have created a multivariable binomial regression model to study the relationship between suicide and environmental factors (atmospheric pollutants and meteorological variables) among January 1, 2000, and December 31, 2013 in the province. During the 14-year study period, there was a suicide annual incidence of 4.9 cases per 100,000 population in Cantabria. The incidence was highest in adults aged 70-74 years old (11.8 per 100,000 population). The most common method group of suicide was hanging, strangulation and suffocation, accounting for 49.3% of all suicide deaths. When correlating suicide and meteorological variables, a statistically significant association was found with the level of cloudiness (p = 0.007). According to our results, an increase of one eighth of sky cloud-cover correlated to a 7% increase in total deaths by suicide and the association was especially strong during spring.


Assuntos
Poluição Ambiental/estatística & dados numéricos , Estações do Ano , Suicídio/estatística & dados numéricos , Tempo (Meteorologia) , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Espanha/epidemiologia , Adulto Jovem
11.
Int J Biometeorol ; 62(6): 1085-1095, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29516156

RESUMO

Processing data that originates from different sources (such as environmental and medical data) can prove to be a difficult task, due to the heterogeneity of variables, storage systems, and file formats that can be used. Moreover, once the amount of data reaches a certain threshold, conventional mining methods (based on spreadsheets or statistical software) become cumbersome or even impossible to apply. Data Extract, Transform, and Load (ETL) solutions provide a framework to normalize and integrate heterogeneous data into a local data store. Additionally, the application of Online Analytical Processing (OLAP), a set of Business Intelligence (BI) methodologies and practices for multidimensional data analysis, can be an invaluable tool for its examination and mining. In this article, we describe a solution based on an ETL + OLAP tandem used for the on-the-fly analysis of tens of millions of individual medical, meteorological, and air quality observations from 16 provinces in Spain provided by 20 different national and regional entities in a diverse array for file types and formats, with the intention of evaluating the effect of several environmental variables on human health in future studies. Our work shows how a sizable amount of data, spread across a wide range of file formats and structures, and originating from a number of different sources belonging to various business domains, can be integrated in a single system that researchers can use for global data analysis and mining.


Assuntos
Armazenamento e Recuperação da Informação/métodos , Integração de Sistemas , Poluição do Ar , Sistemas de Gerenciamento de Base de Dados , Bases de Dados Factuais , Serviço Hospitalar de Emergência/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Humanos , Espanha , Tempo (Meteorologia)
12.
Rev Psiquiatr Salud Ment (Engl Ed) ; 11(4): 192-198, 2018.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28596127

RESUMO

INTRODUCTION: Suicide is an important public health problem, it represents one of the major causes of unnatural death, and there are many factors that affect the risk of suicidal behaviour. The present study analyzes the temporal and spatial variations of mortality by suicide in Spain and its relationship with gross domestic product (GDP) per capita. MATERIAL AND METHODS: A retrospective study was performed, in which deaths by suicide, sex and age group in 50 Spanish provinces between 2000 and 2012 were analyzed. The annual trend of suicide mortality was assessed using Kendall's tau-b correlation coefficient. Seasonality and monthly and weekly behaviour were evaluated by performing the ANOVA test and the Bonferroni adjustment. Finally, the relationship between GDP per capita and suicide was studied. RESULTS: Between 2000 and 2012, 42,905adult people died by suicide in Spain. The annual average incidence rate was 95 suicides per million population. The regions located in the south and in the northwest of the country registered the highest per capita mortality rates. There is a decreasing trend in mortality by suicide over the period studied (CC=-.744; P=.0004) in adults over the age of 64, and a seasonal behaviour was identified with summer maximum and autumn minimum values (f=.504; P<.0001). The regions with the highest GDP per capita showed the lowest mortality by suicide (r=-.645; P<.0001) and the relationship is stronger among older age groups. CONCLUSIONS: Mortality by suicide does not follow a homogenous geographical distribution in Spain. Mortality in men was higher than in women. Over the period of study, there has been a decrease in mortality by suicide in Spain in adults over the age of 64. The seasonal cycle of suicides and the inverse relationship with GDP per capita found in this study, provide information which may be used as a tool for developing prevention and intervention strategies.


Assuntos
Meio Ambiente , Suicídio/estatística & dados numéricos , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Produto Interno Bruto , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Espanha/epidemiologia , Análise Espaço-Temporal , Suicídio/economia , Suicídio/psicologia , Adulto Jovem
13.
Sci Justice ; 57(5): 336-340, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28889862

RESUMO

Biological samples from patients who have undergone allogeneic hematopoietic stem cell transplantation (HSCT) constitute a challenge for individual identification. In this study we analyzed the genetic profiles (by the amplification of 15 autosomic STRs) of HSCT patients found in different types of samples (blood, hair and urine) that may be the source of DNA in civil or criminal forensic cases. Our results show that while in hair follicles the donor component was not detected in any patient, thus being a reliable source of biological material for forensic identification, mixed chimerism was detected in urine samples from all patient, and no correlation was found between the time elapsed from the transplant and the percentage of chimerism. These results certainly have practical implications if the urine is being considered as a source of DNA for identification purposes in HSTC patients. Moreover, taking into consideration that chimerism was found not only in patients with leukocyturia (given the hematopoietic origin of leukocytes, this was expected), but also in those without observable leukocytes in the sediment, we conclude that an alternative source or sources of donor DNA must be implicated.


Assuntos
DNA/análise , Folículo Piloso/química , Transplante de Células-Tronco Hematopoéticas , Transplante Homólogo , Quimerismo , DNA/urina , Impressões Digitais de DNA , Humanos , Repetições de Microssatélites
14.
Rheumatol Int ; 37(10): 1667-1672, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28766055

RESUMO

Hereditary factors have a strong influence on osteoarthritis (OA). The Wnt pathway is involved in bone and cartilage homeostasis. Hence, we hypothesized that allelic variations of WNT16 could influence the OA phenotype. We studied 509 Caucasian patients undergoing joint replacement due to severe primary OA. Radiographs were used to classify the OA as atrophic or hypertrophic. Two nonsynonymous polymorphisms of WNT16 (rs2707466 and rs2908004) were analyzed. The association between the genotypes and the OA phenotype was analyzed by logistic regression and adjusted for age and body mass index. A genotype-phenotype association was found in the sex-stratified analysis. Thus, there was a significant difference in the genotypic frequencies of rs2707466 between hypertrophic and atrophic hip OA in males (p = 0.003), with overrepresentation of G alleles in the hypertrophic phenotype (OR 2.08; CI 1.28-3.38). An association in the same direction was observed between these alleles and the type of knee OA, with G alleles being more common in the hypertrophic than in atrophic knee phenotypes (p = 0.008; OR 1.956, CI 1.19-3.19). Similar associations were found for the rs2908004 SNP, but it only reached statistical significance for knee OA (p = 0.017; OR 0.92, CI 0.86-0.989). This is the first study attempting to explore the association of genetic variants with the OA phenotype. These data suggest the need to consider the OA phenotype in future genetic association studies of OA.


Assuntos
Articulação do Quadril/diagnóstico por imagem , Articulação do Joelho/diagnóstico por imagem , Osteoartrite do Quadril/genética , Osteoartrite do Joelho/genética , Proteínas Wnt/genética , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Alelos , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite do Quadril/diagnóstico por imagem , Osteoartrite do Joelho/diagnóstico por imagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Fatores Sexuais
15.
Sci Rep ; 7(1): 7341, 2017 08 04.
Artigo em Inglês | MEDLINE | ID: mdl-28779148

RESUMO

Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 R1b-DF27 chromosomes for six additional SNPs and 17 Y-STRs in population samples from Spain, Portugal and France in order to further characterize this lineage and, in particular, to ascertain the time and place where it originated, as well as its subsequent dynamics. We found that R1b-DF27 is present in frequencies ~40% in Iberian populations and up to 70% in Basques, but it drops quickly to 6-20% in France. Overall, the age of R1b-DF27 is estimated at ~4,200 years ago, at the transition between the Neolithic and the Bronze Age, when the Y chromosome landscape of W Europe was thoroughly remodeled. In spite of its high frequency in Basques, Y-STR internal diversity of R1b-DF27 is lower there, and results in more recent age estimates; NE Iberia is the most likely place of origin of DF27. Subhaplogroup frequencies within R1b-DF27 are geographically structured, and show domains that are reminiscent of the pre-Roman Celtic/Iberian division, or of the medieval Christian kingdoms.


Assuntos
Alelos , Cromossomos Humanos Y , Genética Populacional , Haplótipos , Frequência do Gene , Variação Genética , Humanos , Masculino , Filogenia , Polimorfismo de Nucleotídeo Único , População Branca/genética
16.
Arch Bronconeumol ; 53(11): 616-621, 2017 Nov.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28495075

RESUMO

OBJECTIVES: Chronic obstructive pulmonary disease (COPD) is a common respiratory condition and one of the leading causes of death. Our aim was to analyze the association between emergency room visits due to this disease and meteorological variables and atmospheric contaminant levels in Santander, depending on the origin and trajectory of air masses. METHODS: Data from emergency room visits at Hospital Marqués de Valdecilla were collected on a daily basis during an 8-year period. Data on concentrations of the main atmospheric pollutants and meteorological variables were also recorded.Retrotrajectories leading to Santander at a height of1,500 meters above sea level were then calculated. Finally, a correlation model was produced to evaluate the effect of the contaminants on emergency visitsdue to COPD. RESULTS: There is a direct association between PM 10 levels and the number of visits to the emergency room due to COPD. For every 10µg/m3 increase in pollutantlevels, emergency visitsincrease by3.34% (p=0.00005), and thiseffect is enhanced in individualsover 74 years of age. This effect is heightened when PM10 levels depend on air masses from the South and when air recirculation occurs. There is no association betweenother pollutants and the number of visits to the emergency room. CONCLUSIONS: Exposure to high levels of PM10 causes exacerbations in COPD patients. By studying the atmospheric circulation pattern, we can predict whether PM10 levels will be inappropriately high, and we can also obtain information about the particle components.


Assuntos
Movimentos do Ar , Poluentes Atmosféricos/efeitos adversos , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Adulto , Aerossóis , Fatores Etários , Idoso , Poluição do Ar/efeitos adversos , Serviço Hospitalar de Emergência/estatística & dados numéricos , Monitoramento Ambiental , Feminino , Humanos , Masculino , Conceitos Meteorológicos , Pessoa de Meia-Idade , Tamanho da Partícula , Material Particulado/efeitos adversos , Doença Pulmonar Obstrutiva Crônica/etiologia , Estudos Retrospectivos , Estações do Ano , Espanha/epidemiologia
17.
Int J Legal Med ; 131(1): 67-72, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27448113

RESUMO

Several methods have been developed to determinate genetic profiles from a mixed samples and chimerism analysis in transplanted patients. The aim of this study was to explore the effectiveness of using the droplet digital PCR (ddPCR) for mixed chimerism detection (a mixture of genetic profiles resulting after allogeneic hematopoietic stem cell transplantation (HSCT)). We analyzed 25 DNA samples from patients who had undergone HSCT and compared the performance of ddPCR and two established methods for chimerism detection, based upon the Indel and STRs analysis, respectively. Additionally, eight artificial mixture DNA samples were created to evaluate the sensibility of ddPCR. Our results show that the chimerism percentages estimated by the analysis of a single Indel using ddPCR were very similar to those calculated by the amplification of 15 STRs (r 2 = 0.970) and with the results obtained by the amplification of 38 Indels (r 2 = 0.975). Moreover, the amplification of a single Indel by ddPCR was sensitive enough to detect a minor DNA contributor comprising down to 0.5 % of the sample. We conclude that ddPCR can be a powerful tool for the determination of a genetic profile of forensic mixtures and clinical chimerism analysis when traditional techniques are not sensitive enough.


Assuntos
DNA/genética , Transplante de Células-Tronco Hematopoéticas , Reação em Cadeia da Polimerase/métodos , Quimeras de Transplante/genética , Genótipo , Humanos , Transplante Homólogo
18.
Cardiovasc Toxicol ; 17(1): 88-96, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-26818727

RESUMO

Epidemiological studies suggest that increased ambient NO2 concentrations are associated with cardiovascular disease. However, none of them have examined the association between ambient air pollution and cardiac arrhythmias in the general population in Spain. This paper assesses the short-term association between the aforementioned air pollutant and hospital admissions for arrhythmia in nine different regions of Spain during a 6-year period (2005-2010), and the possible season-specific effects of the compound on this pathology, by performing a time-series analysis based on Poisson regression models. The results show statistically significant positive relationship increases between arrhythmia admissions and increments in NO2 concentration during the whole year, most notably in wintertime. Moreover, while trying to establish a threshold for NO2 concentration above which the incidence of arrhythmia episodes increases significantly, this study reveals that hospital admissions increased linearly in response to an increase in as we move to higher NO2 concentration levels. Finally, an analysis of NO2 concentrations and their relationship with atmospheric circulation is performed, showing higher values of NO2 under anticyclonic conditions during winter that could be used for implementing pollution level alert protocols depending on forecast circulation patterns.


Assuntos
Poluentes Atmosféricos/efeitos adversos , Arritmias Cardíacas/induzido quimicamente , Exposição por Inalação/efeitos adversos , Dióxido de Nitrogênio/efeitos adversos , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/epidemiologia , Relação Dose-Resposta a Droga , Monitoramento Ambiental/métodos , Hospitalização , Humanos , Incidência , Modelos Lineares , Distribuição de Poisson , Medição de Risco , Fatores de Risco , Estações do Ano , Espanha/epidemiologia , Fatores de Tempo
19.
Cardiovasc Toxicol ; 17(3): 360-367, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-27990617

RESUMO

Stroke, the second cause of death and the most frequent cause of severe disability among adults in developed countries, is related to a large variety of risk factors. This paper assesses the temporal patterns in stroke episodes in a city in Northern Spain during a 12-year period and analyzes the possible effects that atmospheric pollutants and meteorological variables may have on stroke on a daily scale. Our results show that there is an increase in stroke admissions (r = 0.818, p = 0.001) especially in patients over 85 years old. On a weekly scale, the number of hospital admissions due to stroke remains stable from Monday to Friday, whereas it abruptly decreases during the weekends, reaching its minimum values on Sunday (p < 0.005); however, mortality in patients admitted to the hospital is higher on Sundays than on other days of the week. Finally, a statistically significant positive correlation between the number of stroke hospital admissions and NO2 levels (p = 0.012) and an inverse correlation with relative humidity (p = 0.032) were found. The analysis of the relationship between ischemic strokes and atmospheric circulation shows a higher frequency of the former in Santander with enhanced negative air pressure anomalies over western Spain; the fact that under these conditions the region studied registers very low values of relative humidity is in line with the aforementioned inverse correlation, which has not been described elsewhere in the literature. This study could be a first step for implementing stroke alert protocols depending on air pollution levels and circulation patterns forecasts.


Assuntos
Poluentes Atmosféricos/efeitos adversos , Atmosfera , Exposição Ambiental/efeitos adversos , Monitoramento Ambiental/métodos , Estações do Ano , Acidente Vascular Cerebral/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Poluentes Atmosféricos/análise , Poluição do Ar/efeitos adversos , Atmosfera/análise , Exposição Ambiental/análise , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Admissão do Paciente/tendências , Estudos Retrospectivos , Fatores de Risco , Espanha/epidemiologia , Acidente Vascular Cerebral/diagnóstico , Fatores de Tempo
20.
Calcif Tissue Int ; 99(3): 302-9, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27154028

RESUMO

Sclerostin, encoded by the SOST gene, works as an inhibitor of the Wnt pathway and therefore is an important regulator of bone homeostasis. Due to its potent action as an inhibitor of bone formation, blocking sclerostin activity is the purpose of recently developed anti-osteoporotic treatments. Two bone-specific transcription factors, RUNX2 and OSX, have been shown to interact and co-ordinately regulate the expression of bone-specific genes. Although it has been recently shown that sclerostin is targeted by OSX in mice, there is currently no information of whether this is also the case in human cells. We have identified SP-protein family and AML1 consensus binding sequences at the human SOST promoter and have shown that OSX, together with RUNX2, binds to a specific region close to the transcription start site. Furthermore, we show that OSX and RUNX2 activate SOST expression in a co-ordinated manner in vitro and that SOST expression levels show a significant positive correlation with OSX/RUNX2 expression levels in human bone. We also confirmed previous results showing an association of several SOST/RUNX2 polymorphisms with bone mineral density.


Assuntos
Proteínas Morfogenéticas Ósseas/metabolismo , Osso e Ossos/metabolismo , Subunidade alfa 1 de Fator de Ligação ao Core/metabolismo , Fator de Transcrição Sp7/metabolismo , Proteínas Adaptadoras de Transdução de Sinal , Densidade Óssea/fisiologia , Regulação da Expressão Gênica/genética , Marcadores Genéticos , Humanos , Osteoblastos/metabolismo , Osteogênese/fisiologia , Regiões Promotoras Genéticas/genética
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