Abstract Down syndrome presents a high degree of variability in phenotype, may exhibit specific congenital abnormalities. The objective was to search for scientific evidence describing the health education guidelines for genetic counseling in Down syndrome. Integrative review of the literature was conducted using Scielo and Pubmed database, in response to the guiding question: What are the health education guidelines available for genetic counseling in Down syndrome? Articles were chosen in english and portuguese, bolleans operators AND/OR, between 2008 untill 2019. Were found 55 articles, most of which (80%) dealt with prenatal genetic counseling. The studies emphasized orientations directed to parents, professionals and communities: awareness of parents and community; prior knowledge of parents and their opinions to list information needs; formal aspects related to essential exams and therapeutic interventions; informal aspects of psychotherapeutic services to families and ways to report the diagnosis of the syndrome. Special attention should be given to the orientations sought by the parents in the studies, which highlighted the abilities and potential future of this children. It is pointed out that professionals need to be trained and sensitized to carry out genetic counseling, especially postnatal care, which has proved to be insipient in this study.

Resumo A síndrome de Down apresenta variabilidade no fenótipo, podendo exibir anormalidades congênitas específicas. O objetivo foi buscar evidências científicas que descrevam ações de educação em saúde para o aconselhamento genético em síndrome de Down. Revisão integrativa da literatura com busca nas bases de dados Scielo e Pubmed, em resposta a questão norteadora: Quais as ações de educação em saúde disponíveis para o aconselhamento genético em síndrome de Down? Selecionaram-se artigos científicos completos em inglês e português, operadores bolleanos AND e OR, entre 2008 a 2019. Selecionou-se 55 artigos, sendo que 44 artigos (80%) trataram do aconselhamento genético pré-natal. Os estudos ressaltaram orientações direcionadas aos pais, profissionais e comunidade: conscientização dos pais e comunidade; conhecimento prévio dos pais e suas opiniões para elencar as necessidades de informação; aspectos formais relacionados a exames e intervenções terapêuticas; aspectos informais sobre os serviços psicoterapêuticos às famílias e as formas de noticiar o diagnóstico da síndrome. Especial atenção deve ser dada as orientações almejadas pelos pais, os quais destacaram as habilidades e potenciais futuro dos filhos sindrômicos. Aponta-se para a necessidade de capacitação e sensibilização dos profissionais para realizarem o aconselhamento genético, especialmente o pós-natal, o qual mostrou-se insipiente nesse estudo.

Nos últimos anos o DNA barcoding surgiu como uma ferramenta rápida, precisa e eficiente para identificar espécies. Considerando a dificuldade na identificação de algumas espécies de Parodontidae da bacia do rio da Prata e da ausência de dados moleculares para o grupo, testamos a eficácia do código de barras de DNA e discutimos a importância do uso de diferentes abordagens para resolver problemas taxonômicos. Oito espécies foram analisadas com sequencias parciais do gene citocromo c oxidase I. A distância genética média K2P intraespecífica foi de 0,04% comparado com 4,2% para distância genética média K2P interespecífica. As análises de distância mostraram dois pares de espécies com divergência genética K2P inferior a 2%, mas o suficiente para separar estas espécies. Apareiodon sp. e A. ibitiensis, consideradas a mesma espécie por alguns autores, mostraram 4,2% de divergência genética, confirmando serem espécies diferentes. Amostras de A. affinis dos rios Uruguai e Paraguai apresentaram 0,3% de divergência genética, indicando um maior grau de relação entre elas, no entanto, esses exemplares divergiram em 6,1% em relação aos exemplares do alto rio Paraná, o que indica que estes últimos representam uma espécie potencialmente nova. Os resultados mostraram a eficácia do método de DNA barcoding na identificação das espécies analisadas, os quais, em conjunto com os dados morfológicos e citogenéticos disponíveis auxiliam na identificação inequívoca das espécies.

In the past years, DNA barcoding has emerged as a quick, accurate and efficient tool to identify species. Considering the difficulty in identifying some Parodontidae species from the La Plata basin and the absence of molecular data for the group, we aimed to test the effectiveness of DNA barcoding and discuss the importance of using different approaches to solve taxonomic problems. Eight species were analyzed with partial sequences of Cytochrome c oxidase I. The mean intraspecific K2P genetic distance was 0.04% compared to 4.2% for mean interspecific K2P genetic distance. The analyses of distance showed two pairs of species with K2P genetic divergence lower than 2%, but enough to separate these species. Apareiodon sp. and A. ibitiensis, considered as the same species by some authors, showed 4.2% genetic divergence, reinforcing their are different species. Samples of A. affinis from the Uruguay and Paraguay rivers presented 0.3% genetic divergence, indicating a close relationship between them. However, these samples diverged 6.1% from the samples of the upper Paraná River, indicating that the latter represents a potentially new species. The results showed the effectiveness of the DNA barcoding method in identifying the analyzed species, which, together with the morphological and cytogenetic available data, help species identification.

Parodontidae fish show few morphological characteristics for the identification of their representatives and chromosomal analyses have provided reliable features for determining the interrelationships in this family. In this study, the chromosomes of Apareiodon hasemani from the São Francisco River basin, Brazil, were analyzed and showed a karyotype with 2n = 54 meta/submetacentric chromosomes, and a ZZ/ZW sex chromosome system. The study revealed active NORs located on pair 11 and additional 18S rDNA sites on pairs 7 and 22. The 5S rDNA locus was found in pair 14. It showed a pericentric inversion regarding the ancestral condition. The satellite DNA pPh2004 was absent in the chromosomes of A. hasemani, a shared condition with most members of Apareiodon. The WAp probe was able to detect the amplification region of the W chromosome, corroborating the common origin of the system within Parodontidae. These chromosomal data corroborate an origin for the ZW system of Parodontidae and aid in the understanding of the differentiation of sex chromosome systems in Neotropical fishes.

Morphological and cytogenetical studies were carried out on the freshwater fish Parodon nasus and Parodon tortuosus in order to evaluate a putative synonymy. The diploid chromosome number observed in both species was 2n = 54 (48M/SM and 6ST) with no differences between the sexes. Despite slight differences in the pattern of heterochromatin distribution and the number of cusps in symphysean teeth, the location of nucleolar organizer regions (NORs) and 5S rRNA genes (both species-specific features) were similar in both species. The remarkable similarity observed between these allopatric species supports recent taxonomical reviews indicating that P. tortuosus is a synonym for P. nasus.