RESUMO
In December 2017, one of the largest wildfires in California history, the Thomas Fire, created a large smoke and ash plume that extended over the northeastern Pacific Ocean. Here, we explore the impact of Thomas Fire ash deposition on seawater chemistry and the growth and composition of natural microbial communities. Experiments conducted in coastal California waters during the Thomas Fire revealed that leaching of ash in seawater resulted in significant additions of dissolved nutrients including inorganic nitrogen (nitrate, nitrite and ammonium), silicic acid, metals (iron, nickel, cobalt and copper), organic nitrogen and organic carbon. After exposure to ash leachate at high (0.25 g ash l-1) and low (0.08 g ash l-1) concentrations for 4 days, natural microbial communities had 59-154% higher particulate organic carbon concentrations than communities without ash leachate additions. Additionally, a diverse assemblage of eukaryotic microbes (protists) responded to the ash leachate with taxa from 11 different taxonomic divisions increasing in relative abundance compared with control treatments. Our results suggest that large fire events can be important atmospheric sources of nutrients (particularly nitrogen) to coastal marine systems, where, through leaching of various nutrients, ash may act as a 'food for all' in protist communities.
Assuntos
Incêndios , Incêndios Florestais , Eucariotos , Nitrogênio , CarbonoRESUMO
Wilms' tumor (WT) is a heterogeneous neoplasia characterized by a number of genetic abnormalities, involving tumor suppressor genes, oncogenes and genes related to the Wnt signaling pathway. Somatic biallelic inactivation of WT1 is observed in 5-10% of sporadic WT. Somatic mutations in exon 3 of CTNNB1, which encodes ß-catenin, were initially observed in 15% of WT. WTX encodes a protein that negatively regulates the Wnt/ß-catenin signaling pathway and mediates the binding of WT1. In this study, we screened germline and somatic mutations in selected regions of WT1, WTX and CTNNB1 in 43 WT patients. Mutation analysis of WT1 identified two single-nucleotide polymorphisms, one recurrent nonsense mutation (p.R458X) in a patient with proteinuria but without genitourinary findings of Denys-Drash syndrome (DDS) and one novel missense mutation, p.C428Y, in a patient with Denys-Drash syndrome phenotype. WT1 SNP rs16754A>G (R369R) was observed in 17/43 patients, and was not associated with significant difference in age at diagnosis distribution, or with 60-month overall survival rate. WTX mutation analysis identified five sequence variations, two synonymous substitutions (p.Q1019Q and p.D379D), a non-synonymous mutation (p.F159L), one frameshift mutation (p.157X) and a novel missense mutation, p.R560W. Two sequence variations in CTNNB1 were identified, p.T41A and p.S45C. Overall survival of bilateral cases was significantly lower (p=0.005). No difference was observed when survival was analyzed among patients with WT1 or with WTX mutations. On the other hand, the survival of two patients with the CTNNB1 p.T41A mutation was significantly lower (p=0.000517) than the average.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Biomarcadores Tumorais/genética , Neoplasias Renais/genética , Mutação/genética , Proteínas Supressoras de Tumor/genética , Proteínas WT1/genética , Tumor de Wilms/genética , beta Catenina/genética , Sequência de Bases , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Neoplasias Renais/mortalidade , Neoplasias Renais/patologia , Masculino , Dados de Sequência Molecular , Estadiamento de Neoplasias , Prognóstico , Taxa de Sobrevida , Tumor de Wilms/mortalidade , Tumor de Wilms/patologiaRESUMO
We have screened BRCA2 c.156_157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referred for genetic counseling because of risk of being carriers of hereditary breast and ovarian cancer syndrome. Portuguese founder mutation BRCA2 c.156_157insAlu was identified in three unrelated breast cancer probands. Genotyping identified a common haplotype between markers D13S260 and D13S171, and allele sizes were compatible to those described in the Portuguese families. Allele sizes of marker D13S1246, however, were concordant in two families, suggesting that the haplotype may be larger in a subset of families. Tumor phenotypes in Brazilian families seem to reinforce the high prevalence of breast cancer among affected males. However, an apparent excess of gastrointestinal and tongue neoplasias were also observed in these families. Although these tumors are not part of the phenotypic spectrum of hereditary breast and ovarian cancer syndrome, they might be accounted for by other risk alleles contained in the founder haplotype region.
Assuntos
Proteína BRCA2/genética , Neoplasias da Mama/complicações , Efeito Fundador , Neoplasias Gastrointestinais/etiologia , Mutação em Linhagem Germinativa/genética , Neoplasias Ovarianas/complicações , Neoplasias da Língua/etiologia , Adulto , Idoso , Proteína BRCA1/genética , Sequência de Bases , Brasil/epidemiologia , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , DNA/análise , DNA/genética , Feminino , Neoplasias Gastrointestinais/epidemiologia , Predisposição Genética para Doença , Testes Genéticos , Heterozigoto , Humanos , Pessoa de Meia-Idade , Dados de Sequência Molecular , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/genética , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Prognóstico , Neoplasias da Língua/epidemiologiaRESUMO
This experiment investigated the reaction times, when using fine and gross motor movements, of 24 moderately and severely mentally handicapped adults to light and sound stimuli. Unlike results of prior studies of normal and mildly mentally handicapped subjects, there were no significant differences among variables.
