Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until ...recently, studies using multiple extended multi-generation families to identify ASD risk genes had not been undertaken.
We identified haplotypes shared among individuals with ASDs in large multiplex families, followed by targeted DNA capture and sequencing to identify potential causal variants. We also assayed the prevalence of the identified variants in a large ASD case/control population.
We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. Eleven of these variants were observed to have odds ratios greater than 1.5 in a set of 1,541 unrelated children with autism and 5,785 controls. Three variants, in the RAB11FIP5, ABP1, and JMJD7-PLA2G4B genes, each were observed in a single case and not in any controls. These variants also were not seen in public sequence databases, suggesting that they may be rare causal ASD variants. Twenty-eight additional rare variants were observed only in high-risk ASD families. Collectively, these 39 variants identify 36 genes as ASD risk genes. Segregation of sequence variants and of copy number variants previously detected in these families reveals a complex pattern, with only a RAB11FIP5 variant segregating to all affected individuals in one two-generation pedigree. Some affected individuals were found to have multiple potential risk alleles, including sequence variants and copy number variants (CNVs), suggesting that the high incidence of autism in these families could be best explained by variants at multiple loci.
Our study is the first to use haplotype sharing to identify familial ASD risk loci. In total, we identified 39 variants in 36 genes that may confer a genetic risk of developing autism. The observation of 11 of these variants in unrelated ASD cases further supports their role as ASD risk variants.
Purpose: Cs‐131, I‐125 and Pd‐103, have been used for permanent implant brachytherapy. Cs‐131 has shorter half‐life — 9.7 days as compared to I‐125 and Pd‐103 — 59.4 and 17.0 days, respectively. It ...is likely more biologically efficient for tumor cell kill as the initial dose rate from Cs‐131(23.9 cGy/h) is 4 times higher than that of I‐125(5.8 cGy/h) and twice of Pd‐103(13.62 cGy/h). These isotopes differ in their average gamma‐ray energies (30.4keV, 28.5keV and 20.8keV, respectively). This study examines the dosimetric differences amongst these isotopes when used as a permanent implant for patients with resected brain metastasis with regard to exposure of normal brain tissue and the potential for developing radiation necrosis (RN). Methods: 24 patients with a single newly diagnosed and resected brain metastasis were implanted with Cs‐131. Post‐op dosimetry plans were generated for Cs‐131, I‐125 model #6711 and Pd‐103 model #200. The prescription dose was 80 Gy to 5mm depth from the surface cavity. The mean air kerma strength for the Cs‐131, I‐125 and Pd‐103 seeds were 2.4U, 0.6985U and 2.11U respectively. The volume of brain tissue exposed to radiation at 100%, 80% and 50% isodose lines were compared for each isotope. Results: Significantly larger volume of brain tissue exposed to radiation, with the use of I‐125 when compared to both Cs‐131 (p less than 0.00005) and Pd‐103 (p less than 0.00004). There is no significant difference when comparing Cs‐131 to Pd‐103 (p=0.26605). Conclusion: In this analysis, we report that Cs‐131 and Pd‐103 expose less normal brain tissue to radiation when compared to I‐125, thus providing a dosimetric superiority and subjecting less tissue to RN. In addition, Cs‐131 has the shortest T1/2 and in our trial with a median follow up of 10 months, all 24 patients have 100% local control while experiencing 0% incidence of RN.
The erosion in unpaved roads associated with the runoff generates a great environmental impact, being the main cause of flooding, water contamination and alteration of aquatic fauna, among others. It ...is necessary to develop strategies for prevention and control. For this, obtaining reliable indices of soil resistance to erosion is required. In this context, the aim of this study was to determine the indices of erodibility and critical shear stress in the channel of an unpaved road implanted in a Red-Yellow Latosol. Study was conducted on an unpaved road in Vicosa-MG, Brazil, which presented problems of erosion, using a flow simulator for direct determination of field. Erodibility and critical shear stress data were obtained by applying model identity test.The erodibility value determined was 0.0044 g cm.sup.-2 min.sup.-1Pa.sup.-1, and its associated confidence interval with 95% probability was 0.0035 to 0.0053 g cm.sup.-2 min.sup.-1Pa.sup.-1. The critical shear stress determined was 7.61 Pa. Key words: water erosion soil and water conservation modeling erosion processes A erosao em estradas nao pavimentadas associada ao escoamento superficial gera grande impacto ambiental, sendo a principal causa de inundacao, contaminacao da agua e alteracao da fauna aquatica, entre outros, tornando-se necessario desenvolver estrategias de prevencao e controle. Para isto, a obtencao de valores confiaveis dos indices de resistencia do solo ao processo erosivo e premente; sentido em que este trabalho teve, como objetivo, determinar os indices de erodibilidade e a tensao critica de cisalhamento em canal de drenagem construido em uma estrada nao pavimentada implantada em um Latossolo Vermelho-Amarelo. O estudo foi realizado em uma estrada nao pavimentada do municipio de Vicosa, MG, que apresentava problemas de erosao utilizando-se um simulador de escoamento para determinacao direta no campo. Os dados de erodibilidade e tensao critica de cisalhamento foram obtidos com base na tecnica de identidade de modelos. O valor de erodibilidade determinado foi de 0,0044 g cm.sup.-2 min.sup.-1Pa.sup.-1, ao qual foi associado um intervalo de confianca com 95% de probabilidade de 0,0035 a 0,0053 g cm.sup.-2 min.sup.-1Pa.sup.-1. A tensao critica de cisalhamento obtida foi de 7,61 Pa. Palavras-chave: erosao hidrica conservacao de solo e agua modelagem processo erosivo
A erosão em estradas não pavimentadas associada ao escoamento superficial gera grande impacto ambiental, sendo a principal causa de inundação, contaminação da água e alteração da fauna aquatica, ...entre outros, tornando-se necessário desenvolver estratégias de prevenção e controle. Para isto, a obtenção de valores confiáveis dos índices de resistência do solo ao processo erosivo é premente; sentido em que este trabalho teve, como objetivo, determinar os índices de erodibilidade e a tensão crítica de cisalhamento em canal de drenagem construído em uma estrada não pavimentada implantada em um Latossolo Vermelho-Amarelo. O estudo foi realizado em uma estrada não pavimentada do município de Viçosa, MG, que apresentava problemas de erosao utilizando-se um simulador de escoamento para determinação direta no campo. Os dados de erodibilidade e tensão crítica de cisalhamento foram obtidos com base na técnica de identidade de modelos. O valor de erodibilidade determinado foi de 0,0044 g cm-2 min-1 Pa-1, ao qual foi associado um intervalo de confiança com 95% de probabilidade de 0,0035 a 0,0053 g cm-2 min-1 Pa-1. A tensão crítica de cisalhamento obtida foi de 7,61 Pa.
The erosion in unpaved roads associated with the runoff generates a great environmental impact, being the main cause of flooding, water contamination and alteration of aquatic fauna, among others. It is necessary to develop strategies for prevention and control. For this, obtaining reliable indices of soil resistance to erosion is required. In this context, the aim of this study was to determine the indices of erodibility and critical shear stress in the channel of an unpaved road implanted in a Red-Yellow Latosol. Study was conducted on an unpaved road in Viçosa-MG, Brazil, which presented problems of erosion, using a flow simulator for direct determination of field. Erodibility and critical shear stress data were obtained by applying model identity test.The erodibility value determined was 0.0044 g cm-2 min-1 Pa-1, and its associated confidence interval with 95% probability was 0.0035 to 0.0053 g cm-2 min-1 Pa-1. The critical shear stress determined was 7.61 Pa.
Purpose
We conducted a retrospective analysis to evaluate the management and outcome of invasive male breast cancer treated in a single-institution over a period of 40 years.
Materials and methods
We ...reviewed the clinical and pathological features of 60 male patients affected by breast carcinoma treated at our Radiotherapy Unit between 1971 and 2011. Tumours were classified according to histological type and the updated 2010 TNM classification of malignant tumours.
Results
At a median follow-up of 8.9 range, 0.6–20; standard deviation (SD), 4.98 years, 32 patients (53.3%) were alive and 16 patients died (26.7%) due to disease progression and 12 (20%) due to other causes. At univariate analysis for overall survival, pathological tumour size (
p
=0.031), histological subtype (
p
=0.013) and nodal status (
p
=0.006) emerged as significant predictors of death. At multivariate analysis, independent death predictors were advanced pathological tumour size (
p
=0.016), positive nodal status (
p
=0.003) and invasive cribriform histological type (
p
=0.0003).
Conclusions
In consideration of the rarity of the disease, many issues are still being debated, and future collaborative studies are required. However, our experience confirms the prognostic role of greater pathological tumour size and positive nodal status as unfavourable features for survival in male breast cancer.
Chuvas intensas relacionadas à erosão hídrica Santos, Glenio G.; Griebeler, Nori P.; Oliveira, Luiz F. C. de
Revista Brasileira de Engenharia Agrícola e Ambiental,
02/2010, Letnik:
14, Številka:
2
Journal Article
Recenzirano
Odprti dostop
As características das precipitações que mais interferem no processo de erosão do solo são a intensidade, a duração e a frequência da precipitação e a sua erosividade. Sendo o solo um recurso de ...renovação lenta e podendo ser rapidamente degradado pela ação da erosão, torna-se fundamental o conhecimento da forma como a precipitação atua no ambiente no qual esteja inserido. Desta forma se facilitam o desenvolvimento de técnicas e tecnologias e o estabelecimento de ações para diagnosticar, avaliar e apresentar soluções aos problemas, tanto econômica como ambientalmente. Diversos trabalhos, incluindo resultados de pesquisas e desenvolvimento de modelos, têm correlacionado as características das precipitações no sentido de entender, prever e apresentar soluções ao problema erosivo. Neste sentido se buscou compilar alguns desses trabalhos, de modo a apresentar o "estado da arte" no que se refere a chuvas intensas, manejo do solo e erosão hídrica.
The most important rainfall characteristics on erosion process are the relationship between intensity, duration and frequency of precipitation and its erosivity. As the soil is a slow renewal resource and can be quickly degraded by erosion, the knowledge about how the precipitation acts in the environment is fundamental. In this way, the development of techniques, technologies and the establishment of actions to diagnose, to evaluate and to present solutions to erosion problems is important both economically and environmentally. Many studies, including research results and development of models have correlated precipitations characteristics in order to understand, to predict and to present solutions for the erosion problem. In this sense, some of these studies were compiled with the purpose of presenting the "state of the art" with respect to precipitations, soil management and water erosion.
A erosão em estradas não pavimentadas associada ao escoamento superficial gera grande impacto ambiental, sendo a principal causa de inundação, contaminação da água e alteração da fauna aquatica, ...entre outros, tornando-se necessário desenvolver estratégias de prevenção e controle. Para isto, a obtenção de valores confiáveis dos índices de resistência do solo ao processo erosivo é premente; sentido em que este trabalho teve, como objetivo, determinar os índices de erodibilidade e a tensão crítica de cisalhamento em canal de drenagem construído em uma estrada não pavimentada implantada em um Latossolo Vermelho-Amarelo. O estudo foi realizado em uma estrada não pavimentada do município de Viçosa, MG, que apresentava problemas de erosao utilizando-se um simulador de escoamento para determinação direta no campo. Os dados de erodibilidade e tensão crítica de cisalhamento foram obtidos com base na técnica de identidade de modelos. O valor de erodibilidade determinado foi de 0,0044 g cm-2 min-1 Pa-1, ao qual foi associado um intervalo de confiança com 95% de probabilidade de 0,0035 a 0,0053 g cm-2 min-1 Pa-1. A tensão crítica de cisalhamento obtida foi de 7,61 Pa.
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