Dilatação dos confins: caminhos, vilas e cidades na formação da Capitania de São Paulo (1532-1822)

Este ensaio analisa a formação da rede urbana das capitanias de São Vicente e Santo Amaro, depois unidas na Capitania de São Paulo. Discute o processo de apropriação do sertão, a pulsação e dilatação dos confins ao sabor dos deslocamentos humanos e de interesses políticos. Interpreta o papel de capelas, freguesias, vilas e cidades no controle e produção de territórios metropolitanos em solos ultramarinos.This essay analyzes the development of urban networks in the Captaincies of São Vicente and Santo Amaro, later merged into the Captaincy of São Paulo. It discusses the process of appropriation of the sertão (backcountry), the commotion and expansion beyond the confines to the tune of population movements and political interests. The paper also interprets the role of chapels, parishes, villages and towns in initiatives to create and control metropolitan areas on overseas soil

Pan-cancer analysis of whole genomes

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. Whereas canonical chromothripsis profiles display oscillations between two copy-number states, a considerable fraction of events involve multiple chromosomes and additional structural alterations. In addition to non-homologous end joining, we detect signatures of replication-associated processes and templated insertions. Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. These findings show that chromothripsis is a major process that drives genome evolution in human cancer

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

A relação mãe/criança com deficiência: sentimentos e experiências The relation mother/child with disabilities: feelings and experiences

O presente estudo investiga os sentimentos e as experiências de pais e mães de crianças com deficiência. Surge das motivações em compreender o cotidiano dos pais e mães de crianças com deficiência integrante do Projeto de Psicomotricidade Relacional da UNIVATES. De corte qualitativo, trata-se de um estudo etnográfico. Os instrumentos utilizados para a coleta de informações são: entrevistas, diários de campo e análise documental. A temática aborda os seguintes aspectos teóricos: a relação primária, a relação do profissional da saúde e a relação social da criança com necessidades especiais. O processo de coleta de informações permitiu organizar as seguintes categorias: a) sentimentos manifestos no nascimento de um filho com deficiência; b) comportamento dos profissionais da área da saúde no ato de dar a notícia aos pais; c) necessidades dos pais e mães na relação com os demais familiares e a sociedade e sentimentos e e) necessidades envolvidas na perspectiva de educar uma criança com deficiência. Conclui-se que os pais e mães das crianças com necessidades especiais reavaliam seus conceitos iniciais, aprendem a valorizar as potencialidades da criança e requisitam contínuos reforços em suas estimas pessoais que os auxiliam no processo educativo de seus filhos.<br>The present study aims at investigating the feelings and experiences of parents of children with disabilities. It was motivated by the idea of understanding the daily life of the parents of children that take part in the Relational Psychomotricity Project at UNIVATES. The protagonists of the study are the parents integrated in the project. The instruments used for data collection in this ethnographic qualitative study were interviews, field reports and analysis of documents. The study approached the following theoretical aspects: the primary relation, the medical relation and the social relation of the child with disability. The information is organized into the following categories, a) the feelings of the parents on occasion of the birth of a child with disability, b) the behavior of the medical staff when telling the fact to the parents, c) the needs of the parents in regard to their relations with their relatives and society, d) the feelings and needs with respect to educating a child with disability. The article concludes that the parents of children with disability re-evaluate their initial concepts, learn to value the potentialities of the child and require continuing reinforcement of their self-esteem for helping them in the educational process of their children