Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, intakes of folate and related B vitamins and colorectal cancer : a case-control study in a population with relatively low folate intake

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P&D patentes, capacitação de recursos humanos e produtividade: notas sobre o caso brasileiro

The relationship between R&D, patents, human resource capability and productivity is widely discussed in the economic literature. The interaction between these areas is very important for economic analysis, as it is increasingly assumed to be the key issue in the role of technology in the production of the wealth of nations. This paper examines the correlation between these four sets of data in Brazil and represents only a preliminary stage in the investigation of the complex reldtionship between them. o' to The results show a strong correlation between R&D with patents and R&D with human resource capability. Productivity is correlated with only one topic of human resource capability: modern production methodsAs relações entre P&D, patentes, eoursos humanos e produtividade são amplamente dipgcutidas na' literatura. À interação desses quatro blocos é crucial pára a deter- minação da riqueza das nações, dado o peso da Htecnologia para O crescimento econômico.a Este artigo examina a correlação entre esses quatro conjunto de dados para o caso brasileiro. Representa um passo inicial na investigação dessas complexas interações. Os resultados apresentam uma correlação “forte entre P&D e patentes e entre P&D e capacitação de recursos humanos. A produtividade é correlacionada apénas com um tópico da capacitação de recursos humanos: métodos de gestão modernos

“Micronuclei and Disease” special issue: Aims, scope, and synthesis of outcomes

[Abastract] The purpose of the “Micronuclei and Disease” special issue (SI) is to: (i) Determine the level of evidence for association of micronuclei (MN), a biomarker of numerical and structural chromosomal aberrations, with risk of specific diseases in humans; (ii) Define plausible mechanisms that explain association of MN with each disease; (iii) Identify knowledge gaps and research needed to translate MN assays into clinical practice. The “MN and Disease” SI includes 14 papers. The first is a review of mechanisms of MN formation and their consequences in humans. 11 papers are systematic reviews and/or meta-analyses of the association of MN with reproduction, child health, inflammation, auto-immune disease, glycation, metabolic diseases, chronic kidney disease, cardiovascular disease, eleven common cancers, ageing and frailty. The penultimate paper focuses on effect of interventions on MN frequency in the elderly. A road map for translation of MN data into clinical practice is the topic of the final paper. The majority of reviewed studies were case-control studies in which the ratio of mean MN frequency in disease cases relative to controls, i.e. the mean ratio (MR), was calculated. The mean of these MR values, estimated by meta-analyses, for lymphocyte and buccal cell MN in non-cancer diseases were 2.3 and 3.6 respectively, and for cancers they were 1.7 and 2.6 respectively. The highest MR values were observed in studies of cancer cases in which MN were measured in the same tissue as the tumour (MR = 4.9–10.8). This special issue is an important milestone in the evidence supporting MN as a reliable genomic biomarker of developmental and degenerative disease risk. These advances, together with results from prospective cohort studies, are helping to identify diseases in which MN assays can be practically employed in the clinical setting to better identify high risk patients and to prioritise them for preventive therapy

Extraction of specific parameters for skin tumour classification

In this paper, a methodological approach to the classification of tumour skin lesions in dermoscopy images is presented. Melanomas are the most malignant skin tumours. They grow in melanocytes, the cells responsible for pigmentation. This type of cancer is increasing rapidly; its related mortality rate is increasing more modestly, and inversely proportional to the thickness of the tumour. The mortality rate can be decreased by earlier detection of suspicious lesions and better prevention. Using skin tumour features such as colour, symmetry and border regularity, an attempt is made to determine if the skin tumour is a melanoma or a benign tumour. In this work, we are interested in extracting specific attributes which can be used for computer-aided diagnosis of melanoma, especially among general practitioners. In the first step, we eliminate surrounding hair in order to eliminate the residual noise. In the second step, an automatic segmentation is applied to the image of the skin tumour. This method reduces a colour image into an intensity image and approximately segments the image by intensity thresholding. Then, it refines the segmentation using the image edges, which are used to localize the boundary in that area of the skin. This step is essential to characterize the shape of the lesion and also to locate the tumour for analysis. Then, a sequences of transformations is applied to the image to measure a set of attributes (A: asymmetry, B: border, C: colour and D: diameter) which contain sufficient information to differentiate a melanoma from benign lesions. Finally, the various signs of specific lesion (ABCD) are provided to an artificial neural network to differentiate between malignant tumours and benign lesions

Stress Recovery during Exposure to Nature Sound and Environmental Noise

Research suggests that visual impressions of natural compared with urban environments facilitate recovery after psychological stress. To test whether auditory stimulation has similar effects, 40 subjects were exposed to sounds from nature or noisy environments after a stressful mental arithmetic task. Skin conductance level (SCL) was used to index sympathetic activation, and high frequency heart rate variability (HF HRV) was used to index parasympathetic activation. Although HF HRV showed no effects, SCL recovery tended to be faster during natural sound than noisy environments. These results suggest that nature sounds facilitate recovery from sympathetic activation after a psychological stressor

Non-homologous end-joining pathway associated with occurrence of myocardial infarction: gene set analysis of genome-wide association study data

<p>Purpose: DNA repair deficiencies have been postulated to play a role in the development and progression of cardiovascular disease (CVD). The hypothesis is that DNA damage accumulating with age may induce cell death, which promotes formation of unstable plaques. Defects in DNA repair mechanisms may therefore increase the risk of CVD events. We examined whether the joints effect of common genetic variants in 5 DNA repair pathways may influence the risk of CVD events.</p> <p>Methods: The PLINK set-based test was used to examine the association to myocardial infarction (MI) of the DNA repair pathway in GWAS data of 866 subjects of the GENetic DEterminants of Restenosis (GENDER) study and 5,244 subjects of the PROspective Study of Pravastatin in the Elderly at Risk (PROSPER) study. We included the main DNA repair pathways (base excision repair, nucleotide excision repair, mismatch repair, homologous recombination and non-homologous end-joining (NHEJ)) in the analysis.</p> <p>Results: The NHEJ pathway was associated with the occurrence of MI in both GENDER (P = 0.0083) and PROSPER (P = 0.014). This association was mainly driven by genetic variation in the MRE11A gene (PGENDER = 0.0001 and PPROSPER = 0.002). The homologous recombination pathway was associated with MI in GENDER only (P = 0.011), for the other pathways no associations were observed.</p> <p>Conclusion: This is the first study analyzing the joint effect of common genetic variation in DNA repair pathways and the risk of CVD events, demonstrating an association between the NHEJ pathway and MI in 2 different cohorts.</p&gt

The Radiation Issue in Cardiology: the time for action is now

The "radiation issue" is the need to consider possible deterministic effects (e.g., skin injuries) and long-term cancer risks due to ionizing radiation in the risk-benefit assessment of diagnostic or therapeutic testing. Although there are currently no data showing that high-dose medical studies have actually increased the incidence of cancer, the "linear-no threshold" model in radioprotection assumes that no safe dose exists; all doses add up in determining cancer risks; and the risk increases linearly with increasing radiation dose. The possibility of deterministic effects should also be considered when skin or lens doses may be over the threshold. Cardiologists have a special mission to avoid unjustified or non-optimized use of radiation, since they are responsible for 45% of the entire cumulative effective dose of 3.0 mSv (similar to the radiological risk of 150 chest x-rays) per head per year to the US population from all medical sources except radiotherapy. In addition, interventional cardiologists have an exposure per head per year two to three times higher than that of radiologists. The most active and experienced interventional cardiologists in high volume cath labs have an annual exposure equivalent to around 5 mSv per head and a professional lifetime attributable to excess cancer risk on the order of magnitude of 1 in 100. Cardiologists are the contemporary radiologists but sometimes imperfectly aware of the radiological dose of the examination they prescribe or practice, which can range from the equivalent of 1-60 mSv around a reference dose average of 10-15 mSv for a percutaneous coronary intervention, a cardiac radiofrequency ablation, a multi-detector coronary angiography, or a myocardial perfusion imaging scintigraphy. A good cardiologist cannot be afraid of life-saving radiation, but must be afraid of radiation unawareness and negligence

A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report

We describe a case of a patient with idiopathic dilated cardiomyopathy and cardiac conduction abnormalities who presented a strong family history of sudden cardiac death. Genetic screening of lamin A/C gene revealed in proband the presence of a novel missense mutation (R189W), near the most prevalent lamin A/C mutation (R190W), suggesting a "hot spot" region at exon 3