Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events42Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases

Detectable clonal mosaicism and its relationship to aging and cancer

In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases

Radiografia intraoral e convencional da hemiarcada superior direita de gatos domésticos

A proposta com este trabalho foi avaliar a hemiarcada superior direita de gatos domésticos por meio de técnicas radiográficas odontológicas do paralelismo, empregando-se filmes intraorais aos posicionadores de Han Shin. As imagens obtidas por essa metodologia foram correlacionadas com as técnicas radiográficas convencionais (extraorais), com o intuito de se estabelecerem vantagens ou desvantagens para detectar possíveis afecções dentais e periodontais. Foram utilizados 30 gatos, sem raça definida, 17 machos e 13 fêmeas, faixa etária entre um e três anos, confinados em gatis do Departamento de Zootecnia da Universidade Federal de Lavras (UFLA)/MG. Com os animais sob anestesia geral, foram realizadas radiografias da hemiarcada superior direita, incluindo três incisivos, um canino, três pré-molares e um molar em radiografias intraorais e extraorais. As imagens radiográficas foram analisadas e efetuaram-se comparações qualitativas entre pares intraorais e convencionais dos mesmos animais. Para se estabelecer a técnica radiográfica dental mais bem adaptada, foram realizadas análises estatísticas pelo teste de McNemar (qui-quadrado modificado). A técnica intraoral mostrou ser superior à extraoral (P<0,05), para achados referentes a espaço periodontal aumentado, canal radicular amplo e arredondamento de ápice, e também para a avaliação mais bem detalhada de dentes caninos, pré-molares e molares em gatos.The aim of this research was to evaluate the right maxilla hemiarcade of cats through parallel dental radiographic techniques, applying Han Shin intraoral film positioner. Images obtained with this method were correlated with conventional radiographic techniques (extraoral). The goal was to establish the advantages and disadvantages to detect possible dental and periodontal diseases. Thirty mixed breed cats were evaluated, 17 males and 13 females, ages one to three years old, confined in catteries in the Department of Zootecnia of the Federal University of Lavras/MG. Radiographies of the right maxilla were taken with the animals under general anesthesia, and three incisors, one canine, three premolars and one molar teeth were included in the intraoral and extraoral images. The radiographic images were analyzed and a qualitative comparison of pairs of intraoral and conventional images from the same animals was achieved. To establish the dental image procedures that were better adapted for cats, the McNemar Test (Modified Qui-Square) was used for statistical analysis. The intraoral technique was superior than the extra oral (P<0,05), for findings relating to increased periodontal space, broad root canal and rounded apex, and also for a more detailed evaluation of canine, premolar and molar teeth in cats.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP

Heavy metals backgrounds and guiding values in southwestern amazonian soils – A comparative study

International audienceQuality assessment of soils requires knowledge of distinct pollutant sources and process that leads the enrichment of harmful substances, by natural or anthropogenic causes. Reference values to chemical substances contents are used to characterize polluted or contaminated areas based preliminarily on background values. A background value refers to the natural concentration of an element or a substance in soils that have not been modified by anthropogenic activities aspects impacts. The establishment and distinction of these contents from different sources, regarding their strict reference values, guides normative instructions and some environmental laws in several countries, establishing the classification of areas with distinct levels of contamination. Decreasing soil quality by means of contamination and pollution by heavy metals is nowadays recognized as a serious risk for environmental quality and to the human health. Thus, the study goal consists in a reflection about the mineral nature of soils (reference values) and anthropic input in areas under pressure from agricultural frontiers, using as a case study the Southwest region of Amazonia. The study also proposes a comparison with the current situation in Europe, in order to subsidize the elaboration of public policies for the region under pressure of agricultural use in Brazil. In southwestern region of Brazilian Legal Amazon region, the land use is facing a continuous transformation, from mining activities and wood extraction to agricultural practices with intense use of fertilizers. These practices contribute with great volumes of heavy metals added to a weak tropical soil in this frontier region, characterized by land use conflicts between areas of indigenous reserves, farmlands and illegal mining activities. This work deals with the state of the art of legislation and proposals for reference values of some harmful substances suitable to the region and a preliminary delineation of conditions and vectors that allows their expansion. In this protective sense, intergovernmental actions aiming the control of pollution by heavy metals, particularly Cadmium, among other chemical components, pointing to a more restricted use of phosphate fertilizers, rich in heavy metals, are recommended in several countries of the European community. European reference values are compared to the values practiced in Mato Grosso e Rondônia States, Brazil, as well as an analysis of several procedures to obtaining the reference values

Background and reference values for the cadmium contents of Brazilian soils compared

International audienceThe difficulty on quality assessment of soils arises is in part due to distinguish pollutant sources, natural or anthropogenic. Compare this different sources backgrounds and guiding values is very important to instruction on regulations and legislation in general, for heavy metals contents, among other chemical components, and are pointing to more restrictive use of cadmium - rich phosphate fertilisers in many countries. Recognize and characterize contaminated soils is a serious concern with issues that whole society have to deal with today and one of the largest and most neglected problems in Brazil. This work intends to obtain an insight in the natural sources and loads of heavy metals, especially cadmium to soils in Brazil, mainly with the application of huge volume of mineral fertilisers, directly linked with their dangerous concentrations. This is a threat to public health in many regions, and it is one of the priorities to protect it from all sources of anomalous concentration in the ground. Decreasing soil quality by means of contamination and pollution by heavy metals is now recognized also as a serious risk for environmental quality and to the health of people