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1.
Protein & Cell ; (12): 39-56, 2021.
Article in English | WPRIM | ID: wpr-880896

ABSTRACT

Gene expression labeling and conditional manipulation of gene function are important for elaborate dissection of gene function. However, contemporary generation of pairwise dual-function knockin alleles to achieve both conditional and geno-tagging effects with a single donor has not been reported. Here we first developed a strategy based on a flipping donor named FoRe to generate conditional knockout alleles coupled with fluorescent allele-labeling through NHEJ-mediated unidirectional targeted insertion in zebrafish facilitated by the CRISPR/Cas system. We demonstrated the feasibility of this strategy at sox10 and isl1 loci, and successfully achieved Cre-induced conditional knockout of target gene function and simultaneous switch of the fluorescent reporter, allowing generation of genetic mosaics for lineage tracing. We then improved the donor design enabling efficient one-step bidirectional knockin to generate paired positive and negative conditional alleles, both tagged with two different fluorescent reporters. By introducing Cre recombinase, these alleles could be used to achieve both conditional knockout and conditional gene restoration in parallel; furthermore, differential fluorescent labeling of the positive and negative alleles enables simple, early and efficient real-time discrimination of individual live embryos bearing different genotypes prior to the emergence of morphologically visible phenotypes. We named our improved donor as Bi-FoRe and demonstrated its feasibility at the sox10 locus. Furthermore, we eliminated the undesirable bacterial backbone in the donor using minicircle DNA technology. Our system could easily be expanded for other applications or to other organisms, and coupling fluorescent labeling of gene expression and conditional manipulation of gene function will provide unique opportunities to fully reveal the power of emerging single-cell sequencing technologies.


Subject(s)
Alleles , Animals , CRISPR-Cas Systems , DNA End-Joining Repair , DNA, Circular/metabolism , Embryo, Nonmammalian , Gene Editing/methods , Gene Knock-In Techniques , Gene Knockout Techniques , Genes, Reporter , Genetic Loci , Genotyping Techniques , Green Fluorescent Proteins/metabolism , Integrases/metabolism , Luminescent Proteins/metabolism , Mutagenesis, Insertional , Single-Cell Analysis , Zebrafish/metabolism
2.
Article in English | WPRIM | ID: wpr-880666

ABSTRACT

OBJECTIVES@#Due to the genetic feature of high diversity than other DNA markers, short tandem repeat (STR) plays key roles in forensic, anthropology, and population genetics. Newly introduced multiple STR kit is more valuable because of the greatly improved discriminatory power with the increase in the number of STR loci. The genetic polymorphic data are essential for the application and research in specific population. This study aims to investigate the genetic polymorphism of Han population residing in Yuncheng district, Shanxi Province, to evaluate the application of 23 STR loci in forensic personal identification and paternity test, and to explore the genetic relationship of Han population between Yuncheng and other populations.@*METHODS@#A total of 23 STR loci were amplified from 525 healthy unrelated individuals from the Han nationality in Yuncheng, Shanxi Province using the AGCU EX25 amplification kit. The products were detected and separated by ABI 3500 Genetic Analyzer. Alleles were genotyped by GeneMapper ID (Version 3.2) software, and corresponding frequencies and forensic parameters were calculated. We calculated the genetic distance and plotted the neighboring-joining tree with other 13 population.@*RESULTS@#The allele frequency of the 23 STRs ranged from 0.0010 to 0.5090. No deviation from Hardy-Weinberg equilibrium (@*CONCLUSIONS@#These 23 STRs are highly genetic polymorphic and informative in the Han population of Yuncheng, Shanxi Province, which can provide basic data for forensic personal identification, paternity testing, and population genetic research.


Subject(s)
Asian Continental Ancestry Group/genetics , China , Ethnic Groups/genetics , Gene Frequency , Genetic Loci , Genetics, Population , Humans , Microsatellite Repeats/genetics , Polymorphism, Genetic
3.
Article in English | WPRIM | ID: wpr-786073

ABSTRACT

OBJECTIVE: Total ceramide concentrations are linked with increased insulin resistance and cardiac dysfunction. However, recent studies have demonstrated that plasma concentrations of specific very-long-chain fatty ceramides (C24:0 and C22:0) are associated with a reduced incidence of coronary heart disease and all-cause mortality. We hypothesized that specific genetic loci are associated with plasma C22:0 and C24:0 concentrations.METHODS: Heritability and genome-wide association studies of plasma C24:0 and C22:0 ceramide concentrations were performed among 2,217 participants in the Framingham Heart Study Offspring Cohort, adjusting for cardiovascular risk factor covariates and cardiovascular drug treatment.RESULTS: The multivariable-adjusted heritability for C22:0 and C24:0 ceramides was 0.42 (standard error [SE], 0.07; p=1.8E-9) and 0.25 (SE, 0.08; p=0.00025), respectively. Nineteen single nucleotide polymorphisms (SNPs), all on chromosome 20, significantly associated with C22:0 concentrations; the closest gene to these variants was SPTLC3. The lead SNP (rs4814175) significantly associated with 3% lower plasma C22:0 concentrations (p=2.83E-11). Nine SNPs, all on chromosome 20 and close to SPTLC3, were significantly associated with C24:0 ceramide concentrations. All 9 were also significantly related to plasma C22:0 levels. The lead SNP (rs168622) was significantly associated with 10% lower plasma C24:0 ceramide concentrations (p=9.94E-09).CONCLUSION: SNPs near the SPTLC3 gene, which encodes serine palmitoyltransferase long chain base subunit 3 (SPTLC3; part of the enzyme that catalyzes the rate-limiting step of de novo sphingolipid synthesis) were associated with plasma C22:0 and C24:0 ceramide concentrations. These results are biologically plausible and suggest that SPTLC3 may be a potential therapeutic target for C24:0 and C22:0 ceramide modulation.


Subject(s)
Cardiovascular Diseases , Ceramides , Chromosomes, Human, Pair 20 , Cohort Studies , Coronary Disease , Genetic Loci , Genome-Wide Association Study , Genomics , Heart , Incidence , Insulin Resistance , Mortality , Plasma , Polymorphism, Single Nucleotide , Risk Factors , Serine C-Palmitoyltransferase
4.
Cienc. tecnol. salud ; 7(2): 155-169, 2020. il 27 c
Article in Spanish | LILACS, LIGCSA, DIGIUSAC | ID: biblio-1348111

ABSTRACT

El aguacate es un cultivo de consumo a nivel mundial, y según teorías recientes, se sugiere a la región de la Sierra Nevada, en California, como centro de origen y, a Guatemala, como uno de los principales centros de domesticación. Mediante caracterizaciones morfológicas se ha reportado una alta diversidad genética en el país, pero debido al comportamiento de polinización cruzada e hibridaciones interraciales, no se ha podido detallar el estado genético actual de la especie. Sin embargo, los marcadores moleculares son útiles para este tipo de estudios al enfocarse en las diferencias a nivel del ADN. Este estudio analizó la diversidad genética del aguacate nativo guatemalteco de siete poblaciones geográficas con el marcador molecular AFLP. Los datos de estructura poblacional mostraron un alto grado de diversidad a nivel de individuos (Ht = 0.1933, Hw = 0.1872) y baja diferenciación entre poblaciones (Hb = 0.0061). Los resultados sugieren una alta tasa de migración que influye directamente en el grado de mezcla genética de los materiales analizados. El bajo índice de estructura poblacional apunta a un alto flujo genético entre las poblaciones, por lo que la especie no presenta mayor riesgo ante la deriva genética, minimizándose el riesgo de pérdida de alelos por fijación. Se sugiere el resguardado del recurso fitogénetico total y no únicamente de materiales promisorios, evitando así el riesgo de erosión genética de la especie y garantizando la permanencia de la diversidad genética, la cual será la base de futuros programas de mejoramiento.


Avocado is one of the most widely consumed crops worldwide and according to new theories, the Sierra Nevada region in California is suggested as the center of origin and Guatemala as one of the main domestication cen-ters. Through morphological characterizations, a high genetic diversity has been reported in the country, but due to the behavior of cross pollination and interracial hybridizations, it has not been possible to detail the current genetic status of the species. Molecular markers are useful for this type of study by focusing on differences at DNA level. This study analyzed the genetic diversity of the native Guatemalan avocado from seven geographic populations with AFLP molecular marker. Population structure data showed a high degree of diversity at the individual level (Ht = 0.1933, Hw = 0.1872) and low differentiation between populations (Hb = 0.0061). The results suggest a high rate of migration that directly influences the degree of genetic mixing of the analyzed materials. The low index of population structure points to a high genetic flow between populations, so that the species does not present a greater risk due to genetic drift, minimizing the risk of loss of alleles due to fixation. The protection of the total genetic resource is suggested, and not only of promising materials, thus avoiding the risk of genetic erosion of the species and guaranteeing the permanence of genetic diversity, which will be the basis of future breeding programs.


Subject(s)
Genetic Variation , Plant Leaves/genetics , Persea/genetics , Amplified Fragment Length Polymorphism Analysis/classification , Genetic Variation/genetics , DNA, Plant/analysis , Genetic Drift , Genetic Loci , Domestication
5.
Article in English | WPRIM | ID: wpr-772961

ABSTRACT

Chromatin conformation, localization, and dynamics are crucial regulators of cellular behaviors. Although fluorescence in situ hybridization-based techniques have been widely utilized for investigating chromatin architectures in healthy and diseased states, the requirement for cell fixation precludes the comprehensive dynamic analysis necessary to fully understand chromatin activities. This has spurred the development and application of a variety of imaging methodologies for visualizing single chromosomal loci in the native cellular context. In this review, we describe currently-available approaches for imaging single genomic loci in cells, with special focus on clustered regularly interspaced short palindromic repeats (CRISPR)-based imaging approaches. In addition, we discuss some of the challenges that limit the application of CRISPR-based genomic imaging approaches, and potential solutions to address these challenges. We anticipate that, with continued refinement of CRISPR-based imaging techniques, significant understanding can be gained to help decipher chromatin activities and their relevance to cellular physiology and pathogenesis.


Subject(s)
CRISPR-Cas Systems , Genetics , Clustered Regularly Interspaced Short Palindromic Repeats , Genetics , Genetic Loci , Genomics , Molecular Imaging , Methods , Nanoparticles , Chemistry
6.
Electron. j. biotechnol ; 34: 17-21, july. 2018. tab
Article in English | LILACS | ID: biblio-1047452

ABSTRACT

Background: Microsatellite loci often used as a genetic tool for estimating genetic diversity population variation in a wide variety of different species. The application of microsatellite markers in genetics and breeding includes investigating the genetic differentiation of wild and cultured populations, assessing and determining the genetic relationship of different populations. The aim of this work is to develop several microsatellite markers via highthroughput sequencing and characterize these markers in commercially important bivalve Ruditapes philippinarum. Results: Among the two populations of R. philippinarum studied, 110 alleles were detected. The number of alleles at the cultured population ranged from 3 to 17 (mean NA = 6.897) and wild population ranged from 2 to 15 (mean NA = 6.793). The observed and expected heterozygosities of cultured population ranged from 0.182 to 0.964, and from 0.286 to 0.900, with an average of 0.647 and 0.692, respectively. The observed and expected heterozygosities of wild population ranged from 0.138 to 1.000, and from 0.439 to 0.906, with an average of 0.674 and 0.693, respectively. The polymorphism information content ranged from 0.341 to 0.910 with an average of 0.687. Sixteen and thirteen microsatellite loci deviated significantly from Hardy­Weinberg equilibrium after correction for multiple tests in cultured and wild population, respectively. Conclusions: Twenty-nine novel microsatellite loci were developed using Illumina paired-end shotgun sequencing and characterized in two population of R. philippinarum.


Subject(s)
Animals , Genetic Variation , Bivalvia/genetics , Microsatellite Repeats , Polymorphism, Genetic , Aquaculture , Genetic Loci , Genetics, Population
7.
Article in English | WPRIM | ID: wpr-715522

ABSTRACT

Thyroid cancer has one of the highest hereditary component among human malignancies as seen in medical epidemiology investigations, suggesting the potential meaningfulness of genetic studies. Here we review researches into genetic variations that influence the chance of developing non-familial differentiated thyroid cancer (DTC), focusing on the major findings of the genome-wide association studies (GWASs) of common single-nucleotide polymorphisms (SNPs). To date, eight GWAS have been performed, and the association of a number of SNPs have been reproduced in dozens of replication investigations across different ethnicities, including Korea and Japan. Despite the cumulative effect of the strongest SNPs demonstrates gradual increase in the risk for cancer and their association signals are statistically quite significant, the overall prediction ability for DTC appears to be very limited. Thus, genotyping of common SNPs only would be insufficient for evidence-based counseling in clinical setting at present. Further studies to include less significant and rare SNPs, non-SNP genetic information, gene-gene interactions, ethnicity, non-genetic and environmental factors, and development of more advanced computational algorithms are warranted to approach to personalized disease risk prediction and prognostication.


Subject(s)
Counseling , Epidemiology , Genetic Loci , Genetic Predisposition to Disease , Genetic Testing , Genetic Variation , Genome-Wide Association Study , Humans , Japan , Korea , Polymorphism, Genetic , Polymorphism, Single Nucleotide , Thyroid Gland , Thyroid Neoplasms
8.
Asian Spine Journal ; : 167-173, 2017.
Article in English | WPRIM | ID: wpr-63836

ABSTRACT

STUDY DESIGN: Prospective case-controlled study. PURPOSE: This study aimed to assess genetic influence in Saudi Arabian children with adolescent idiopathic scoliosis (AIS). OVERVIEW OF LITERATURE: The genetic locus linked to chromosome 19p for idiopathic scoliosis has been described. A pilot study conducted at King Fahd Hospital of the University, Al-Khobar showed that three microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3 were significant in Saudi Arabian females compared with healthy subjects. METHODS: A total of 100 unrelated Saudi Arabian girls treated for AIS, their parents, healthy siblings, and healthy subjects were recruited for genetic analysis of markers on chromosome 19p13.3. After informed consent was obtained from their parents, blood samples were collected and parametric and nonparametric linkage analyses were performed using GENEHUNTER ver. 2.1. Multipoint linkage analysis was used to specify an autosomal dominant trait with a gene frequency of 0.01 and an estimated penetrance of 80% at the genotypic and allelic levels. RESULTS: Five hundred blood samples were collected and analyzed for microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3. Comparison among patients, family members, and healthy subjects revealed no significant association between markers and scoliosis at the genotypic level: D19S216 (p=0.21), D19S894 (p=0.37), and DS1034 (p=0.25). However, at the allelic level, a statistically significant association was observed for marker DS1034 (p=0.008), and marker D19S216 showed significance between fathers and patients (p<0.001) compared with patients and mothers. The other two markers, D19S216 (p=0.25) and D19S894 (p=0.17), showed no significant association between patients and mothers. CONCLUSIONS: At the allelic level, marker DS1034 was significantly associated with AIS patients and their fathers. This allelic marker on chromosome 19p13.3 appears to be important in AIS etiology.


Subject(s)
Adolescent , Case-Control Studies , Child , Fathers , Female , Genes, vif , Genetic Loci , Genetic Markers , Healthy Volunteers , Humans , Informed Consent , Microsatellite Repeats , Mothers , Parents , Penetrance , Pilot Projects , Prospective Studies , Saudi Arabia , Scoliosis , Siblings
9.
Braz. j. microbiol ; 47(4): 800-806, Oct.-Dec. 2016.
Article in English | LILACS | ID: biblio-828199

ABSTRACT

Abstract In Latin America, the disease burden of shigellosis is found to coexist with the rapid and rampant spread of resistance to commonly used antibiotics. The molecular basis of antibiotic resistance lies within genetic elements such as plasmids, transposons, integrons, genomic islands, etc., which are found in the bacterial genome. Integrons are known to acquire, exchange, and express genes within gene cassettes and it is hypothesized that they play a significant role in the transmission of multidrug resistance genes in several Gram-negative bacteria including Shigella. A few studies have described antibiotic resistance genes and integrons among multidrug resistant Shigella isolates found in Latin America. For example, in Brazil, Bolivia, Chile, Costa Rica and Peru, class 1 and class 2 integrons have been detected among multidrug resistant strains of Shigella; this phenomenon is more frequently observed in S. flexneri isolates that are resistant to trimethoprim, sulfamethoxazole, streptomycin, ampicillin, chloramphenicol, and tetracycline. The gene cassette sul2, which is frequently detected in Shigella strains resistant to the sulfonamides, suggests that the sulfonamide-resistant phenotype can be explained by the presence of the sul2 genes independent of the integron class detected. It is to be noted that sul3 was negative in all isolates analyzed in these studies.The high frequency of sulfonamide (as encoded by sul2) and trimethoprim resistance is likely to be a result of the recurrent use of trimethoprim sulfamethoxazole as a popular regimen for the treatment of shigellosis. The observed resistance profiles of Shigella strains confirm that ampicillin and trimethoprim-sulfamethoxazole are ineffective as therapeutic options. In-depth information regarding antibiotic resistance mechanism in this pathogen is needed in order to develop suitable intervention strategies. There is a pressing need for regional and local antimicrobial resistance profiling of Shigella to be included as a part of the public health strategy.


Subject(s)
Shigella/drug effects , Shigella/genetics , Drug Resistance, Bacterial , Integrons , Dysentery, Bacillary/microbiology , Dysentery, Bacillary/epidemiology , Anti-Bacterial Agents/pharmacology , Population Surveillance , Dysentery, Bacillary/drug therapy , Genetic Loci , Genes, Bacterial , Latin America/epidemiology , Anti-Bacterial Agents/therapeutic use
10.
Article in English | WPRIM | ID: wpr-121105

ABSTRACT

Type 2 diabetes (T2DM) is a common complex metabolic disorder that has a strong genetic predisposition. During the past decade, progress in genetic association studies has enabled the identification of at least 75 independent genetic loci for T2DM, thus allowing a better understanding of the genetic architecture of T2DM. International collaborations and large-scale meta-analyses of genome-wide association studies have made these achievements possible. However, whether the identified common variants are causal is largely unknown. In addition, the detailed mechanism of how these genetic variants exert their effect on the pathogenesis of T2DM requires further investigation. Currently, there are ongoing large-scale sequencing studies to identify rare, functional variants for T2DM. Environmental factors also have a crucial role in the development of T2DM. These could modulate gene expression via epigenetic mechanisms, including DNA methylation, histone modification and microRNA regulation. There is evidence that epigenetic changes are important in the development of T2DM. Recent studies have identified several DNA methylation markers of T2DM from peripheral blood and pancreatic islets. In this review, we will briefly summarize the recent progress in the genetic and epigenetic research on T2DM and discuss how environmental factors, genetics and epigenetics can interact in the pathogenesis of T2DM.


Subject(s)
Cooperative Behavior , DNA Methylation , Epigenomics , Gene Expression , Genetic Association Studies , Genetic Loci , Genetic Predisposition to Disease , Genetics , Genome-Wide Association Study , Histones , Islets of Langerhans , MicroRNAs
11.
Article in English | WPRIM | ID: wpr-166855

ABSTRACT

BACKGROUND AND PURPOSE: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. Epilepsy and other neuropsychiatric (NP) manifestations of this genetic syndrome are not uncommon, but they are also not well-understood. We sought to identify the characteristics of epilepsy and other associated NP manifestations in patients with 22q11.2DS. METHODS: We retrospectively analyzed the medical records of 145 child and adolescent patients (72 males and 73 females) with genetically diagnosed 22q11.2DS. The clinical data included seizures, growth chart, psychological reports, development characteristics, school performance, other clinical manifestations, and laboratory findings. RESULTS: Of the 145 patients with 22q11.2DS, 22 (15.2%) had epileptic seizures, 15 (10.3%) had developmental delay, and 5 (3.4%) had a psychiatric illness. Twelve patients with epilepsy were classified as genetic epilepsy whereas the remaining were classified as structural, including three with malformations of cortical development. Patients with epilepsy were more likely to display developmental delay (odds ratio=3.98; 95% confidence interval=1.5-10.5; p=0.005), and developmental delay was more common in patients with structural epilepsy than in those with genetic epilepsy. CONCLUSIONS: Patients with 22q11.2DS have a high risk of epilepsy, which in these cases is closely related to other NP manifestations. This implies that this specific genetic locus is critically linked to neurodevelopment and epileptogenesis.


Subject(s)
Adolescent , Child , DiGeorge Syndrome , Epilepsy , Genetic Loci , Growth Charts , Humans , Male , Malformations of Cortical Development , Medical Records , Mental Disorders , Neurologic Manifestations , Retrospective Studies , Seizures
12.
Salud colect ; 11(3): 423-444, jul.-sep. 2015. ilus, tab
Article in Spanish | LILACS | ID: lil-761811

ABSTRACT

La publicidad utiliza imágenes corporales fuertemente estereotipadas para promocionar cánones físicos y conductas alimentarias no saludables asociadas a productos de alimentación dirigidos sobre todo a jóvenes. El objetivo de este estudio, realizado en Barcelona (España) durante el mes de mayo de 2013, es testear la percepción de 25 valores en siete spots televisivos de alimentación (con y sin estrategias de imagen corporal) en 139 jóvenes con y sin trastornos de la conducta alimentaria (TCA). Los resultados muestran que solo el grupo de jóvenes con TCA considera que los spots con una estrategia comercial basada en la imagen corporal influyen muy negativamente en valores como salud, bienestar, familia y esfuerzo. En cambio, se ha observado una gran coincidencia entre los dos grupos cuando se evalúa el resto de los spots. Estos resultados señalan que los jóvenes universitarios españoles de hoy han aceptado como normal un canon de belleza basado en el orden social y económico, mientras que los jóvenes en tratamiento por desórdenes alimenticios sí han aprendido a decodificar este tipo de mensajes.


Advertising uses stereotyped body images to promote physical ideals and unhealthy eating habits related to food products which are targeted especially at young people. The purpose of this study, carried out in Barcelona (Spain) in May 2013, was to test the perception of 139 young people of university age - with and without eating disorders - regarding 25 values in seven food commercials that did and did not use body image strategies. Results show that only the group of young people with eating disorders considered commercials using body image strategies to have a very negative influence on values such as health, well-being, family and effort. In contrast, the assessment of the two groups regarding the rest of the commercials greatly coincided. These results show that today’s university youth have accepted as normal a beauty canon based on the prevailing social and economic order, while young people in treatment for eating disorders have learned to denaturalize such messages.


Subject(s)
Humans , Biological Evolution , Genetics, Population , Models, Genetic , Selection, Genetic , Game Theory , Genetic Loci , Genotype , Phenotype
13.
Braz. j. microbiol ; 46(2): 531-533, Apr-Jun/2015. tab
Article in English | LILACS | ID: lil-749720

ABSTRACT

The isolation of mannitol-negative methicillin-resistant Staphylococcus aureus from nasal swabs is reported. Among the 59 isolates, 9 (15%) isolates were mannitol-negative; all of these isolates were categorized as staphylococcal cassette chromosome mec (SCCmec) type IVa. This report emphasizes that mannitol fermentation on mannitol salt agar should not be used as the sole criterion when screening nasal swab specimens for S. aureus.


Subject(s)
Humans , Mannitol/metabolism , Methicillin-Resistant Staphylococcus aureus/isolation & purification , Methicillin-Resistant Staphylococcus aureus/metabolism , Nasal Mucosa/microbiology , Brazil , DNA, Bacterial/genetics , Fermentation , Genetic Loci , Methicillin-Resistant Staphylococcus aureus/classification
14.
Cad. saúde pública ; 31(4): 733-743, 04/2015. tab
Article in Portuguese | LILACS | ID: lil-744852

ABSTRACT

A depressão apresenta alta carga de doença no mundo. Fatores socioeconômicos e exposição a situações extremas no trabalho podem estar associados à doença. O objetivo do trabalho é investigar a prevalência e fatores associados à depressão em bombeiros de Belo Horizonte, Minas Gerais, Brasil. Estudo transversal foi realizado em universo de bombeiros do sexo masculino em Belo Horizonte (n = 711). O Inventário Beck para Depressão (IBD) foi utilizado para avaliar a presença de depressão. Modelos de regressão logística (uni e multivariada) foram utilizados para estudar a associação entre características sociodemográficas, estressores ocupacionais, situação de saúde e depressão. A prevalência de depressão na amostra estudada foi 5,5%. A chance de depressão foi maior entre bombeiros que relataram sintomas de estresse pós-traumático (OR = 12,47; IC95%: 5,64-27,57) e uso abusivo de álcool (OR = 5,30; IC95%: 2,35-11,96). Os resultados são discutidos considerando as inter-relações entre transtornos mentais, o efeito do trabalhador sadio e o reconhecimento social do trabalho dos bombeiros.


Depression burder is high worldwide. Socioeconomic factors and exposure to extreme situations at work may be associated with the illness. This study focused on the prevalence of depression and associated factors among firefighters in Belo Horizonte, Minas Gerais State, Brazil. A cross-sectional study was conducted among male firefighters in Belo Horizonte (n = 711). The Beck Depression Inventory (BDI) was used to assess depression. Univariate and multivariate logistic regression models were used to study the association between socio-demographic characteristics, occupational stressors, health status, and depression. Prevalence of depression in the sample was 5.5%. The likelihood of developing depression was higher among firefighters who reported post-traumatic stress symptoms (OR = 12.47; 95%CI: 5.64-27.57) and alcohol abuse (OR = 5.30; 95%CI: 2.35-11.96). The results are discussed considering the interrelationships between mental disorders, the healthy worker effect, and social recognition of firefighters' work.


La depresión tiene una alta carga como enfermedad mundial. Factores socioeconómicos y la exposición a situaciones extremas en el trabajo pueden estar asociados con la enfermedad. El objetivo de este trabajo es investigar la prevalencia y los factores asociados con la depresión en los bomberos de Belo Horizonte, Minas Gerais, Brasil. Se trata de un estudio transversal, realizado entre los bomberos de sexo masculino de Belo Horizonte (n = 711). Se utilizó el Inventario de Depresión de Beck (IDB) para evaluar la presencia de depresión. Se utilizaron modelos de regresión logística para estudiar la asociación entre características sociodemográficas, estrés ocupacional, estado de salud y depresión. La prevalencia de depresión fue de un 5,5%. La posibilidad de depresión fue mayor entre los bomberos que informaron síntomas de estrés postraumático (OR = 12,47; IC95%: 5,64-27,57) y abuso de alcohol (OR = 5,30, IC95%: 2,35-11,96). Los resultados son discutidos considerando las interrelaciones entre los trastornos mentales, el efecto en trabajadores sanos y el reconocimiento social de la labor de bomberos.


Subject(s)
Humans , /genetics , Genome-Wide Association Study , Guanine Nucleotide Dissociation Inhibitors/genetics , Monocarboxylic Acid Transporters/genetics , Genetic Loci , Genetic Predisposition to Disease , Genetic Variation , Genome, Human , Haplotypes , Leptin/genetics , MicroRNAs/genetics , Polymorphism, Single Nucleotide
15.
Ciênc. saúde coletiva ; 20(4): 1085-1098, 04/2015. tab, graf
Article in English | LILACS | ID: lil-744894

ABSTRACT

The aim of this study was to examine the prevalence of oral cancer self-examinationamong the elderly and confirm whether prevalence was higher among users of the dental services provided by Brazil's Unified Health System (SUS, acronym in Portuguese). A transversal study of elderly people aged between 65 and 74 years living in a large-sized Brazilian municipality was conducted using simple random sampling. Logistic regression was conducted and results were corrected for sample design and unequal weighting using the SPSS(r) software. The study assessed 740 individuals. A total of 492 met the inclusion criteria, of which 101 (22.4%) reported having performed an oral cancer self-examination. Prevalence was higher among users of the dental services provided by the SUS, higher-income individuals, people with higher levels of education, individuals that used a removable dental prosthesis, and people who had not experienced discomfort attributed to oral condition, and lower among people who sought regular and periodic dental treatment and individuals who did not have a drinking habit. This type of self-care should be encouraged by public health policies which respond to the needs of the elderly, with emphasis on users of private and philanthropic services, and other services outside the public health network.


Este estudo objetivou identificar a prevalência do autoexame bucal entre idosos e constatar se essa prevalência foi maior entre usuários de serviços odontológicos prestados pelo Sistema Único de Saúde (SUS). Estudo transversal conduzido a partir de amostragem probabilística complexa por conglomerados, entre idosos (65-74 anos) de um município brasileiro de grande porte populacional. Foi realizada regressão logística binária, as estimativas foram corrigidas pelo efeito de desenho e por ponderações, utilizando-se o SPSS(r). Dentre os 740 avaliados, atenderam aos critérios de inclusão 492 idosos e, destes, 101 (22,4%) relataram a prática do autoexame bucal. Esta prática foi maior entre idosos usuários dos serviços odontológicos prestados no SUS, entre aqueles com maior renda per capita, os com maior escolaridade, aqueles que utilizavam prótese dentária removível e entre os que não tiveram impactos decorrentes das desordens bucais; foi menor entre os que usaram serviços odontológicos por rotina e os que não possuíam hábito etilista. A prevalência do autoexame bucal entre idosos foi baixa e maior entre aqueles usuários do SUS. O estímulo à adesão a este autocuidado deve ser considerado nas políticas de saúde do idoso vigentes, especialmente entre usuários de serviços particulares, supletivos e filantrópicos.


Subject(s)
Child , Humans , /genetics , Dyslexia/genetics , Language Disorders/genetics , Colorado , Genetic Loci , Genotype , Haplotypes , Intelligence Tests , Iowa , Italy , Linkage Disequilibrium , Longitudinal Studies , Microtubule-Associated Proteins/genetics , Nerve Tissue Proteins/genetics , Nuclear Proteins/genetics , Phenotype , Pseudogenes , Psychological Tests , Proteins/genetics , Reading , Thiolester Hydrolases/genetics , Transcription Factors/genetics
16.
Int. braz. j. urol ; 41(2): 353-359, Mar-Apr/2015. tab, graf
Article in English | LILACS | ID: lil-748310

ABSTRACT

Purpose To evaluate the clinical outcome of a cohort of localized prostate cancer patients treate with 125-I permanent brachytherapy at the São José Hospital – CHLC, Lisbon. Materials and Methods A retrospective analysis was carried out on 429 patients with low and intermediate-risk of prostate adenocarcinoma, according to the recommendations of the EORTC, who underwent 125I brachytherapies in intraoperative dosimetry “real-time” system between September 2003 and September 2013. Results The mean follow-up was 71.98 months. Biochemical relapse of disease by rising PSA (Phoenix criterion) was observed in 18 patients (4.2%). Through the application of Kaplan-Meier survival curves in this sample, the rate of survival at 6 years without biochemical relapse was higher than 95%. By Iog rank test comparing biochemical relapse with initial PSA (15-10 and <10) and Gleason values (7 and <7), there was no statistical difference (P=0.830) of the initial PSA in the probability of developing biochemical relapse. In relation to Gleason score, it was noted a statistical difference (P<0.05), demonstrating that patients with Gleason 7 are more likely to develop biochemical relapse. Conclusions Brachytherapy as monotherapy is at present an effective choice in the treatment of localized prostate adenocarcinoma. Biochemical relapses are minimal. The initial PSA showed no statistically difference in the rate of relapses, unlike the value Gleason, where it was demonstrated that patients with Gleason 7 have a higher probability of biochemical relapse. Cases with PSA bounce should be controlled before starting a salvage treatment. .


Subject(s)
Humans , Genome, Human , Genome-Wide Association Study , Genetic Loci/genetics , Lung Diseases/genetics , Vital Capacity/genetics , Cohort Studies , Databases, Genetic , Follow-Up Studies , Forced Expiratory Volume , Genetic Predisposition to Disease , Lung Diseases/pathology , Meta-Analysis as Topic , Prognosis , Polymorphism, Single Nucleotide/genetics , Quantitative Trait Loci/genetics , Respiratory Function Tests , Spirometry
17.
Rev. méd. Chile ; 143(1): 85-95, ene. 2015. ilus, tab
Article in Spanish | LILACS | ID: lil-742555

ABSTRACT

Background: There is growing interest in the treatment and return-to-work of workers with labor related mental illnesses. Aim: To perform a systematic review of practices and interventions that improve return to work. Material and Methods: Systematic literature review. Thirty articles were selected for in- depth analysis. Results: Self efficacy perception, work motivation, a lower age and a better socioeconomic status were identified as worker-related return to work facilitators. Among work environment facilitators, good communication practices, supervisor support, a good assessment and modification of work load, adjustment of expectations, a good relationship between employers and employees and positive work experiences were identified. Treatment may improve return to work using a multidisciplinary approach, reducing stress and identifying psychosocial determinants of mental problems rather than symptoms and providing a timely health care. Conclusions: Return to work of workers with labor related mental illnesses requires a constant sharing of information between health care workers, employers and employees to identify common therapeutic objectives.


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , European Continental Ancestry Group/genetics , Genetic Loci , Lipoprotein(a)/blood , Lipoprotein(a)/genetics , Polymorphism, Single Nucleotide , Cohort Studies , Europe , Genetic Association Studies , Genotype , Oligonucleotide Array Sequence Analysis , Phenotype
18.
Chinese Journal of Epidemiology ; (12): 1053-1057, 2015.
Article in Chinese | WPRIM | ID: wpr-248712

ABSTRACT

<p><b>OBJECTIVE</b>To understand the association between multiple genetic loci identified by genome-wide association studies (GWASs) and colorectal cancer (CRC) risk, and whether these genetic factors, along with traditional risk factors, could contribute to the colorectal cancer risk prediction in a Chinese Han population.</p><p><b>METHODS</b>A case-control study (1 066 CRC cases and 3 880 controls) was initially conducted to assess the association between 21 recently discovered single-nucleotide polymorphisms (SNPs) and CRC risk. Genetic risk score (GRS) and weighted genetic risk score (wGRS) were calculated to evaluate the joint effects of selected loci. Multiple models combining genetic and non-genetic factors were established and receiver operating characteristic curve analysis was used to compare the discriminatory power of different predictive models.</p><p><b>RESULTS</b>There were 7 SNPs significantly associated with CRC susceptibility. As the GRS or wGRS increased, the risk of CRC also increased (trend P=0.002 6 for GRS, trend P<0.000 1 for wGRS). The ORs for highest versus lowest quartile of GRS and wGRS were 1.33 (95% CI: 1.12-1.58, P=0.001 0) and 1.76 (95% CI: 1.45-2.14, P<0.000 1) , respectively. The model incorporating wGRS and traditional risk factors, including sex, age, smoking and drinking, was the best one to predict CRC risk in this population, with an area under curve of 0.593 (95% CI: 0.573-0.613).</p><p><b>CONCLUSION</b>Multiple genetic loci identified by GWASs jointly influenced the CRC risk. The combination of genetic factors and conventional non-genetic factors improved the performance of risk predictive model for colorectal cancer.</p>


Subject(s)
Asian Continental Ancestry Group , Case-Control Studies , China , Epidemiology , Colorectal Neoplasms , Epidemiology , Genetics , Ethnic Groups , Genetic Loci , Genetic Predisposition to Disease , Genetic Variation , Genome-Wide Association Study , Humans , Polymorphism, Single Nucleotide , ROC Curve , Risk Factors
19.
Journal of Stroke ; : 7-16, 2015.
Article in English | WPRIM | ID: wpr-166391

ABSTRACT

Cerebral small vessel disease (SVD) is an important cause of stroke and cognitive impairment among the elderly and is a more frequent cause of stroke in Asia than in the US or Europe. Although traditional risk factors such as hypertension or diabetes mellitus are important in the development of cerebral SVD, the exact pathogenesis is still uncertain. Both, twin and family history studies suggest heritability of sporadic cerebral SVD, while the candidate gene study and the genome-wide association study (GWAS) are mainly used in genetic research. Robust associations between the candidate genes and occurrence of various features of sporadic cerebral SVD, such as lacunar infarction, intracerebral hemorrhage, or white matter hyperintensities, have not yet been elucidated. GWAS, a relatively new technique, overcomes several shortcomings of previous genetic techniques, enabling the detection of several important genetic loci associated with cerebral SVD. In addition to the more common, sporadic cerebral SVD, several single-gene disorders causing cerebral SVD have been identified. The number of reported cases is increasing as the clinical features become clear and diagnostic examinations are more readily available. These include cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, COL4A1-related cerebral SVD, autosomal dominant retinal vasculopathy with cerebral leukodystrophy, and Fabry disease. These rare single-gene disorders are expected to play a crucial role in our understanding of cerebral SVD pathogenesis by providing animal models for the identification of cellular, molecular, and biochemical changes underlying cerebral small vessel damage.


Subject(s)
Aged , Asia , CADASIL , Cerebral Hemorrhage , Cerebral Small Vessel Diseases , Diabetes Mellitus , Europe , Fabry Disease , Genetic Association Studies , Genetic Loci , Genetic Research , Genetic Techniques , Genetics , Genome-Wide Association Study , Humans , Hypertension , Leukoencephalopathies , Models, Animal , Retinaldehyde , Risk Factors , Stroke , Stroke, Lacunar
20.
Intestinal Research ; : 112-121, 2015.
Article in English | WPRIM | ID: wpr-144354

ABSTRACT

Overwhelming evidences supports the idea that inflammatory bowel disease (IBD) is caused by a complex interplay between genetic alterations of multiple genes and an aberrant interaction with environmental factors. There is growing evidence that epigenetic factors can play a significant part in the pathogenesis of IBD. Significant effort has been invested in uncovering genetic and epigenetic factors, which may increase the risk of IBD, but progress has been slow, and few IBD-specific factors have been detected so far. It has been known for decades that DNA methylation is the most well studied epigenetic modification, and analysis of DNA methylation is leading to a new generation of cancer biomarkers. Therefore, in this review, we summarize the role of DNA methylation alteration in IBD pathogenesis, and discuss specific genes or genetic loci using recent molecular technology advances. Here, we suggest that DNA methylation should be studied in depth to understand the molecular pathways of IBD pathogenesis, and discuss epigenetic studies of IBD that may have a significant impact on the field of IBD research.


Subject(s)
Biomarkers , DNA Methylation , Epigenomics , Genetic Loci , Inflammatory Bowel Diseases
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