The maturity of a scientific field: a methodological proposition considering Brazilian Paleontology

The development of science and its communication dynamics have been examined with the use of techniques from Bibliometrics, Scientometric and Webometrics. The use of such approaches allows a variety of quantitative analyzes of the information recorded, based on the impact factor, citations, authorship and co-authorship, among other aspects. The aim of the present study is to propose a methodology to estimate the degree of maturity or consolidation of a scientific field. The methodology is based on authorship information, more specifically the flow of authors over time. For the application of this methodology, data from Brazilian Paleontology was used, a field of national importance that lacks quantitative studies that allows scientists to understand its current degree of consolidation. The proposition has four main steps, which includes the definition of the key variable, namely authorship, definition and collection of data from the field production, data organization and analysis of the authorships. From the analysis of the authorships of Brazilian publications in Paleontology, indexed in Web Of Science, from 1991 to 2015, it was found that the number of authors in a given period of time shows expressive and constant growth and that there is a core of authors who contribute in a constant manner to the field, with a prospect of increase, due to the large number of newcomers. The proposition proved to be not only feasible to estimate the maturity in this case study, but also opens up the possibility of new applications, whether it is to monitor the advances in the maturity of this field in Brazil, as well as in other fields of knowledge.O desenvolvimento da ciência e suas dinâmicas de comunicação têm sido investigados através de técnicas oriundas da Bibliometria, Cientometria e Webmetria. O uso de tais abordagens permite uma diversidade de análises quantitativas da informação registrada a partir do fator de impacto, das citações, das autorias e coautorias, dentre outros aspectos. O objetivo do presente estudo é propor uma metodologia para estimar o grau de maturidade ou consolidação de um campo científico. A metodologia se baseia nas informações sobre autoria, mais especificamente o fluxo de autores ao longo do tempo. Para a aplicação desta metodologia, utilizou-se dados da Paleontologia brasileira, um campo de importância nacional que carece de estudos quantitativos que permitam entender seu atual grau de consolidação. A proposta tem quatro etapas principais, que inclui a definição da variável chave, as autorias, definição e coleta de dados da produção do campo, organização dos dados e análise das autorias. A partir da análises de autorias das publicações brasileiras em Paleontologia, indexadas na Web of Science, de 1991 a 2015, verificou-se que a quantidade de autores em dado espaço de tempo mostra expressivo e constante crescimento e que há um núcleo de autores que contribui de maneira contínua para o campo, com perspectiva de aumento, devido ao grande número de autores recém-chegados. A proposta mostrou-se não só viável para estimar a maturidade neste estudo de caso, mas também abre a possibilidade da realização de novos estudos, quer seja de acompanhamento dos avanços da maturidade deste campo no Brasil, bem como em outros campos do conhecimento

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Women in Paleontology: a case study of Revista Brasileira de Paleontologia

In the last few decades there has been a growth of studies focused on the participation of women in different sectors. In science, studies of this nature seek, among other aspects, to investigate the gender gap in different fields of knowledge, as well its possible causes and ways to reduce it. Based on this scenario, the present work investigates the participation of women in Brazilian Palaeontology, a traditionally male dominated field. To do so, the analysis focuses on the authorship data of the Revista Brasileira de Paleontologia (RBP), the first and only national magazine dedicated exclusively to the field and which is indexed on national and international databases. For this investigation, information from 386 articles, published between 2001 and 2015, were manually extracted from the RBP website and were analyzed using the Microsoft Excel program. It was observed that 42 articles (10.9%) are of single authorship and 344 (89.1%) of multiple authorship. In the first group, 19 articles (45%) are of female authorship and 23 (55%) of male authorship. In the second group, we were able to identify the gender of the authors in 340 articles. Of those, 221 articles had mixed authorship (65%), 87 had male authorship only (25.6%) and 39 had female authorship only (9.4%). In terms of single authorship, it is possible to observe equity between men and women. In the articles with multiple authorship, the highest proportion of mixed authorship indicates a greater preference for collaboration with the opposite sex. It is important to highlight that, among the 1,117 authors who participate in the 340 works of shared authorship, 683 are men (61.2%) and 434 are women (38.8%). A ratio of 0.64: 1, that is, practically for each male author there is half of a female author. These data reinforce the predominance of male authors in the field of paleontology in Brazil, but on the other hand, shows that there is a significant collaboration between male and female professionals. Even preliminary, the results put Brazil in a status of greater gender equity compared to other countries in Latin America. It is intended, with this work, to contribute to the debate on gender disparity and performance in research in Paleontology, a matter that still lacks discussions.As últimas décadas presenciaram o crescimento de estudos sobre a participação de mulheres em diferentes setores. Na ciência, estudos desta natureza buscam, dentre outros aspectos, investigar a disparidade de gênero nos campos de conhecimento, assim como suas possíveis causas e formas para reduzi-la. Partindo desta constatação, o trabalho pretende investigar a participação de mulheres na Paleontologia brasileira, um campo tradicionalmente masculino, inclusive no Brasil. Para isso, neste estudo, a análise foca nas autorias da Revista Brasileira de Paleontologia (RBP), a primeira e única revista nacional dedicada exclusivamente ao campo e que está indexada em bases nacionais e internacionais. Para esta investigação, foram extraídas manualmente do site da RBP informações de 386 artigos, publicados no período de 2001 a 2015 que foram analisadas no programa Microsoft Excel. Observa-se que 42 artigos (10,9%) são de autoria única e 344 (89,1%) de autoria múltipla. No primeiro grupo, verifica-se que 19 artigos (45%) são de autoria feminina e 23 (55%) de autoria masculina. No segundo grupo, foi identificado o sexo dos autores de 340 artigos, sendo 221 artigos de autoria mista (65%), 87 de autoria somente masculina (25,6%) e 39 de autoria somente feminina (9,4%). No quesito autoria única, portanto, é possível observar equidade entre homens e mulheres. Já nos trabalhos de autoria múltipla, a maior proporção de autorias mistas indica maior preferência pela colaboração com o sexo oposto. Importante destacar que, dentre os 1.117 autores que participam dos 340 trabalhos de autoria compartilhada, 683 são homens (61,2%) e 434 são mulheres (38,8%). Uma relação de 0,64:1, ou seja, praticamente para cada autor há metade de uma autora. Esses dados, por um lado, reforçam ainda a predominância de autores do sexo masculino no campo da Paleontologia no Brasil, mas por outro, mostram que existe uma significativa colaboração deles com as profissionais do sexo feminino. Mesmo preliminares, os resultados colocam o país em um status de maior equidade de gênero se comparado a outros países da América Latina. Pretende-se, com este trabalho, contribuir para o debate da disparidade de gênero e desempenho na pesquisa em Paleontologia, que ainda carece de estudos

Genetic modifiers of Huntington's disease differentially influence motor and cognitive domains.

Genome-wide association studies (GWAS) of Huntington’s disease (HD) have identified six DNA maintenance gene loci (among others) as modifiers and implicated a two step-mechanism of pathogenesis: somatic instability of the causative HTT CAG repeat with subsequent triggering of neuronal damage. The largest studies have been limited to HD individuals with a rater-estimated age at motor onset. To capitalize on the wealth of phenotypic data in several large HD natural history studies, we have performed algorithmic prediction using common motor and cognitive measures to predict age at other disease landmarks as additional phenotypes for GWAS. Combined with imputation using the Trans-Omics for Precision Medicine reference panel, predictions using integrated measures provided objective landmark phenotypes with greater power to detect most modifier loci. Importantly, substantial differences in the relative modifier signal across loci, highlighted by comparing common modifiers at MSH3 and FAN1, revealed that individual modifier effects can act preferentially in the motor or cognitive domains. Individual components of the DNA maintenance modifier mechanisms may therefore act differentially on the neuronal circuits underlying the corresponding clinical measures. In addition, we identified new modifier effects at the PMS1 and PMS2 loci and implicated a potential new locus on chromosome 7. These findings indicate that broadened discovery and characterization of HD genetic modifiers based on additional quantitative or qualitative phenotypes offers not only the promise of in-human validated therapeutic targets, but also a route to dissecting the mechanisms and cell types involved in both the somatic instability and toxicity components of HD pathogenesis

Genetic modifiers of Huntington disease differentially influence motor and cognitive domains

Genome-wide association studies (GWASs) of Huntington disease (HD) have identified six DNA maintenance gene loci (among others) as modifiers and implicated a two step-mechanism of pathogenesis: somatic instability of the causative HTT CAG repeat with subsequent triggering of neuronal damage. The largest studies have been limited to HD individuals with a rater-estimated age at motor onset. To capitalize on the wealth of phenotypic data in several large HD natural history studies, we have performed algorithmic prediction by using common motor and cognitive measures to predict age at other disease landmarks as additional phenotypes for GWASs. Combined with imputation with the Trans-Omics for Precision Medicine reference panel, predictions using integrated measures provided objective landmark phenotypes with greater power to detect most modifier loci. Importantly, substantial differences in the relative modifier signal across loci, highlighted by comparing common modifiers at MSH3 and FAN1, revealed that individual modifier effects can act preferentially in the motor or cognitive domains. Individual components of the DNA maintenance modifier mechanisms may therefore act differentially on the neuronal circuits underlying the corresponding clinical measures. In addition, we identified additional modifier effects at the PMS1 and PMS2 loci and implicated a potential second locus on chromosome 7. These findings indicate that broadened discovery and characterization of HD genetic modifiers based on additional quantitative or qualitative phenotypes offers not only the promise of in-human validated therapeutic targets but also a route to dissecting the mechanisms and cell types involved in both the somatic instability and toxicity components of HD pathogenesis

Shape coexistence in 94Zr studied via Coulomb excitation

In recent years, a number of both theoretical and experimental investigations have been performed focusing on the zirconium isotopic chain. In particular, state-of-the-art Monte Carlo shell-model calculations predict shape coexistence in these isotopes. In this context, the 94Zr nucleus, which is believed to possess a nearly spherical ground state, is particularly interesting since the purported deformed structure is basedon the low-lying 02+ state, making it amenable for detailed study. In order to provide definitive conclusionson the shapes of the low-lying states, two complementary experiments to study 94Zr by means of low-energy Coulomb excitation were performed. This data will allow the quadrupole moments of the 21,2+ levels to be extracted as well as for the deformation parameters of the 01,2+ states to be determined and, thus, definitive conclusions to be drawn on the role of shape coexistence in this nucleus for the first time. The first experiment was performed at the INFN Legnaro National Laboratory with the GALILEO-SPIDER setup, which, for the first time, was coupled with 6 lanthanum bromide scintillators (LaBr3:Ce) in order to maximize the γ-ray detection effciency. The second experiment was performed at the Maier-Leibnitz Laboratory (MLL) in Munich and used a Q3D magnetic spectrograph to detect the scattered 12C ions following Coulomb excitation of 94Zr targets

Shape coexistence in

In recent years, a number of both theoretical and experimental investigations have been performed focusing on the zirconium isotopic chain. In particular, state-of-the-art Monte Carlo shell-model calculations predict shape coexistence in these isotopes. In this context, the 94Zr nucleus, which is believed to possess a nearly spherical ground state, is particularly interesting since the purported deformed structure is basedon the low-lying 02+ state, making it amenable for detailed study. In order to provide definitive conclusionson the shapes of the low-lying states, two complementary experiments to study 94Zr by means of low-energy Coulomb excitation were performed. This data will allow the quadrupole moments of the 21,2+ levels to be extracted as well as for the deformation parameters of the 01,2+ states to be determined and, thus, definitive conclusions to be drawn on the role of shape coexistence in this nucleus for the first time. The first experiment was performed at the INFN Legnaro National Laboratory with the GALILEO-SPIDER setup, which, for the first time, was coupled with 6 lanthanum bromide scintillators (LaBr3:Ce) in order to maximize the γ-ray detection effciency. The second experiment was performed at the Maier-Leibnitz Laboratory (MLL) in Munich and used a Q3D magnetic spectrograph to detect the scattered 12C ions following Coulomb excitation of 94Zr targets

NEOTROPICAL ALIEN MAMMALS: a data set of occurrence and abundance of alien mammals in the Neotropics

Biological invasion is one of the main threats to native biodiversity. For a species to become invasive, it must be voluntarily or involuntarily introduced by humans into a nonnative habitat. Mammals were among first taxa to be introduced worldwide for game, meat, and labor, yet the number of species introduced in the Neotropics remains unknown. In this data set, we make available occurrence and abundance data on mammal species that (1) transposed a geographical barrier and (2) were voluntarily or involuntarily introduced by humans into the Neotropics. Our data set is composed of 73,738 historical and current georeferenced records on alien mammal species of which around 96% correspond to occurrence data on 77 species belonging to eight orders and 26 families. Data cover 26 continental countries in the Neotropics, ranging from Mexico and its frontier regions (southern Florida and coastal-central Florida in the southeast United States) to Argentina, Paraguay, Chile, and Uruguay, and the 13 countries of Caribbean islands. Our data set also includes neotropical species (e.g., Callithrix sp., Myocastor coypus, Nasua nasua) considered alien in particular areas of Neotropics. The most numerous species in terms of records are from Bos sp. (n = 37,782), Sus scrofa (n = 6,730), and Canis familiaris (n = 10,084); 17 species were represented by only one record (e.g., Syncerus caffer, Cervus timorensis, Cervus unicolor, Canis latrans). Primates have the highest number of species in the data set (n = 20 species), partly because of uncertainties regarding taxonomic identification of the genera Callithrix, which includes the species Callithrix aurita, Callithrix flaviceps, Callithrix geoffroyi, Callithrix jacchus, Callithrix kuhlii, Callithrix penicillata, and their hybrids. This unique data set will be a valuable source of information on invasion risk assessments, biodiversity redistribution and conservation-related research. There are no copyright restrictions. Please cite this data paper when using the data in publications. We also request that researchers and teachers inform us on how they are using the data