Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions

The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332,808 school-aged children in the mainland and 10,910 in the Azores islands. Referred children were directly assessed using the Diagnostic and Statistical Manual of Mental Disorders (4th edn), the Autism Diagnostic Interview-Revised, and the Childhood Autism Rating Scale. Clinical history and a laboratory investigation was performed. In parallel, a systematic multi-source search of children known to have autism was carried out in a restricted region. The global prevalence of ASD per 10,000 was 9.2 in mainland, and 15.6 in the Azores, with intriguing regional differences. A diversity of associated medical conditions was documented in 20%, with an unexpectedly high rate of mitochondrial respiratory chain disorders

COMPORTAMENTOS DA FAMILIA DIANTE DO DIAGNÓSTICODE CÂNCER DE MAMA

The breast cancer always causes negative feelings in the woman and her relatives, such as, fear, sadness and pessimism. This study was aimed to know the family’s behavior up to the problem of breast cancer diagnosis; verify the confrontation mechanisms utilized; and identify the family contribution in the recuperation of the woman. It’s an exploratory study with 15 relatives of mastectomies women. The dates were collected through semi-structured interviews and organized by the content analysis. The fear was present among the relatives, during the cancer discovery and surgery news. It was noticed some deficiency in the orientations to the relatives, who were many times without having contact concerning to the treatment. So, they generally showed an ineffective behavior. The breast cancer and the consequent mastectomy caused a great impact in the family, extended to friends.El cáncer de mama acostumbra a generar sentimientos de miedo, tristeza y negación en la mujer y en los familiares. El objetivo fue analizar el comportamiento de la familia frente al diagnóstico de cáncer de mama. Estudio descriptivo con 15 familiares de mujeres mastectomizadas. Datos colectados a través de entrevistas semi-estructuradas y organizados para el análisis de contenido. El miedo estuvo presente entre los familiares durante el descubrimiento del cáncer y frente a la noticia de la cirugía. Percibimos deficiencias en las orientaciones a los familiares, muchas veces dejados de lado en el tratamiento. Estos manifestaron, generalmente, comportamientos ineficaces. El cáncer de mama y la consiguiente mastectomía ocasionan impacto en la familia, extendiéndose a los amigos.O câncer de mama costuma gerar sentimentos de medo, tristeza e negação na mulher, e nos familiares. Objetivamos conhecer os comportamentos de familiares de mulheres mastectomizadas frente al diagnóstico de câncer de mama; verificar os mecanismos de enfrentamento utilizados pelos mesmos; e identificar a contribuição da família na recuperação da mulher. Estudo exploratório, com abordagem qualitativa, realizado com 15 familiares de mulheres mastectomizadas. Dados coletados através de entrevista semi-estruturada e organizados pela análise de conteúdo. O medo esteve presente entre os familiares, durante a descoberta do câncer e notícia da cirurgia. Identificamos deficiência nas orientações aos familiares, muitas vezes deixados de lado no tratamento. Estes manifestaram, geralmente, comportamentos ineficazes. O câncer de mama e a conseqüente mastectomia ocasionam impacto na família, estendendo-se aos amigos

7th Drug hypersensitivity meeting: part two

No abstract availabl

NEOTROPICAL XENARTHRANS: a data set of occurrence of xenarthran species in the Neotropics

Xenarthrans – anteaters, sloths, and armadillos – have essential functions for ecosystem maintenance, such as insect control and nutrient cycling, playing key roles as ecosystem engineers. Because of habitat loss and fragmentation, hunting pressure, and conflicts with 24 domestic dogs, these species have been threatened locally, regionally, or even across their full distribution ranges. The Neotropics harbor 21 species of armadillos, ten anteaters, and six sloths. Our dataset includes the families Chlamyphoridae (13), Dasypodidae (7), Myrmecophagidae (3), Bradypodidae (4), and Megalonychidae (2). We have no occurrence data on Dasypus pilosus (Dasypodidae). Regarding Cyclopedidae, until recently, only one species was recognized, but new genetic studies have revealed that the group is represented by seven species. In this data-paper, we compiled a total of 42,528 records of 31 species, represented by occurrence and quantitative data, totaling 24,847 unique georeferenced records. The geographic range is from the south of the USA, Mexico, and Caribbean countries at the northern portion of the Neotropics, to its austral distribution in Argentina, Paraguay, Chile, and Uruguay. Regarding anteaters, Myrmecophaga tridactyla has the most records (n=5,941), and Cyclopes sp. has the fewest (n=240). The armadillo species with the most data is Dasypus novemcinctus (n=11,588), and the least recorded for Calyptophractus retusus (n=33). With regards to sloth species, Bradypus variegatus has the most records (n=962), and Bradypus pygmaeus has the fewest (n=12). Our main objective with Neotropical Xenarthrans is to make occurrence and quantitative data available to facilitate more ecological research, particularly if we integrate the xenarthran data with other datasets of Neotropical Series which will become available very soon (i.e. Neotropical Carnivores, Neotropical Invasive Mammals, and Neotropical Hunters and Dogs). Therefore, studies on trophic cascades, hunting pressure, habitat loss, fragmentation effects, species invasion, and climate change effects will be possible with the Neotropical Xenarthrans dataset

Population genomics of post-glacial western Eurasia.

Western Eurasia witnessed several large-scale human migrations during the Holocene <sup>1-5</sup> . Here, to investigate the cross-continental effects of these migrations, we shotgun-sequenced 317 genomes-mainly from the Mesolithic and Neolithic periods-from across northern and western Eurasia. These were imputed alongside published data to obtain diploid genotypes from more than 1,600 ancient humans. Our analyses revealed a 'great divide' genomic boundary extending from the Black Sea to the Baltic. Mesolithic hunter-gatherers were highly genetically differentiated east and west of this zone, and the effect of the neolithization was equally disparate. Large-scale ancestry shifts occurred in the west as farming was introduced, including near-total replacement of hunter-gatherers in many areas, whereas no substantial ancestry shifts happened east of the zone during the same period. Similarly, relatedness decreased in the west from the Neolithic transition onwards, whereas, east of the Urals, relatedness remained high until around 4,000 BP, consistent with the persistence of localized groups of hunter-gatherers. The boundary dissolved when Yamnaya-related ancestry spread across western Eurasia around 5,000 BP, resulting in a second major turnover that reached most parts of Europe within a 1,000-year span. The genetic origin and fate of the Yamnaya have remained elusive, but we show that hunter-gatherers from the Middle Don region contributed ancestry to them. Yamnaya groups later admixed with individuals associated with the Globular Amphora culture before expanding into Europe. Similar turnovers occurred in western Siberia, where we report new genomic data from a 'Neolithic steppe' cline spanning the Siberian forest steppe to Lake Baikal. These prehistoric migrations had profound and lasting effects on the genetic diversity of Eurasian populations