The genomic substrate for adaptive radiation in African cichlid fish.

Cichlid fishes are famous for large, diverse and replicated adaptive radiations in the Great Lakes of East Africa. To understand the molecular mechanisms underlying cichlid phenotypic diversity, we sequenced the genomes and transcriptomes of five lineages of African cichlids: the Nile tilapia (Oreochromis niloticus), an ancestral lineage with low diversity; and four members of the East African lineage: Neolamprologus brichardi/pulcher (older radiation, Lake Tanganyika), Metriaclima zebra (recent radiation, Lake Malawi), Pundamilia nyererei (very recent radiation, Lake Victoria), and Astatotilapia burtoni (riverine species around Lake Tanganyika). We found an excess of gene duplications in the East African lineage compared to tilapia and other teleosts, an abundance of non-coding element divergence, accelerated coding sequence evolution, expression divergence associated with transposable element insertions, and regulation by novel microRNAs. In addition, we analysed sequence data from sixty individuals representing six closely related species from Lake Victoria, and show genome-wide diversifying selection on coding and regulatory variants, some of which were recruited from ancient polymorphisms. We conclude that a number of molecular mechanisms shaped East African cichlid genomes, and that amassing of standing variation during periods of relaxed purifying selection may have been important in facilitating subsequent evolutionary diversification.

The African coelacanth genome provides insights into tetrapod evolution.

The discovery of a living coelacanth specimen in 1938 was remarkable, as this lineage of lobe-finned fish was thought to have become extinct 70 million years ago. The modern coelacanth looks remarkably similar to many of its ancient relatives, and its evolutionary proximity to our own fish ancestors provides a glimpse of the fish that first walked on land. Here we report the genome sequence of the African coelacanth, Latimeria chalumnae. Through a phylogenomic analysis, we conclude that the lungfish, and not the coelacanth, is the closest living relative of tetrapods. Coelacanth protein-coding genes are significantly more slowly evolving than those of tetrapods, unlike other genomic features. Analyses of changes in genes and regulatory elements during the vertebrate adaptation to land highlight genes involved in immunity, nitrogen excretion and the development of fins, tail, ear, eye, brain and olfaction. Functional assays of enhancers involved in the fin-to-limb transition and in the emergence of extra-embryonic tissues show the importance of the coelacanth genome as a blueprint for understanding tetrapod evolution.

The genome of the green anole lizard and a comparative analysis with birds and mammals.

The evolution of the amniotic egg was one of the great evolutionary innovations in the history of life, freeing vertebrates from an obligatory connection to water and thus permitting the conquest of terrestrial environments. Among amniotes, genome sequences are available for mammals and birds, but not for non-avian reptiles. Here we report the genome sequence of the North American green anole lizard, Anolis carolinensis. We find that A. carolinensis microchromosomes are highly syntenic with chicken microchromosomes, yet do not exhibit the high GC and low repeat content that are characteristic of avian microchromosomes. Also, A. carolinensis mobile elements are very young and diverse-more so than in any other sequenced amniote genome. The GC content of this lizard genome is also unusual in its homogeneity, unlike the regionally variable GC content found in mammals and birds. We describe and assign sequence to the previously unknown A. carolinensis X chromosome. Comparative gene analysis shows that amniote egg proteins have evolved significantly more rapidly than other proteins. An anole phylogeny resolves basal branches to illuminate the history of their repeated adaptive radiations.

A high-resolution map of human evolutionary constraint using 29 mammals.

The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering ∼4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for ∼60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.

The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons.

To connect human biology to fish biomedical models, we sequenced the genome of spotted gar (Lepisosteus oculatus), whose lineage diverged from teleosts before teleost genome duplication (TGD). The slowly evolving gar genome has conserved in content and size many entire chromosomes from bony vertebrate ancestors. Gar bridges teleosts to tetrapods by illuminating the evolution of immunity, mineralization and development (mediated, for example, by Hox, ParaHox and microRNA genes). Numerous conserved noncoding elements (CNEs; often cis regulatory) undetectable in direct human-teleost comparisons become apparent using gar: functional studies uncovered conserved roles for such cryptic CNEs, facilitating annotation of sequences identified in human genome-wide association studies. Transcriptomic analyses showed that the sums of expression domains and expression levels for duplicated teleost genes often approximate the patterns and levels of expression for gar genes, consistent with subfunctionalization. The gar genome provides a resource for understanding evolution after genome duplication, the origin of vertebrate genomes and the function of human regulatory sequences.

The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease.

The domestic ferret (Mustela putorius furo) is an important animal model for multiple human respiratory diseases. It is considered the 'gold standard' for modeling human influenza virus infection and transmission. Here we describe the 2.41 Gb draft genome assembly of the domestic ferret, constituting 2.28 Gb of sequence plus gaps. We annotated 19,910 protein-coding genes on this assembly using RNA-seq data from 21 ferret tissues. We characterized the ferret host response to two influenza virus infections by RNA-seq analysis of 42 ferret samples from influenza time-course data and showed distinct signatures in ferret trachea and lung tissues specific to 1918 or 2009 human pandemic influenza virus infections. Using microarray data from 16 ferret samples reflecting cystic fibrosis disease progression, we showed that transcriptional changes in the CFTR-knockout ferret lung reflect pathways of early disease that cannot be readily studied in human infants with cystic fibrosis disease.

Percepção do familiar cuidador acerca dos problemas enfrentados pela criança frente o diagnóstico de hiv/aids / Perception of the family caregiver regarding problems faced by children in relation to their diagnosis of hiv/aids / Percepción del familiar cuidador acerca de los problemas del niño delante del diagnóstico de hiv/sida

Objetivou-se conhecer a percepção do familiar cuidador acerca dos problemas enfrentados pela criança frente o diagnóstico de Síndrome da Imunodeficiência Humana. Realizou-se pesquisa qualitativa, exploratória e descritiva em um Hospital Dia referência do sul do país, no segundo semestre de 2014. Participaram dez familiares cuidadores de crianças atendidas no serviço. Os dados foram coletados por meio de entrevistas semiestruturadas e submetidos à análise de conteúdo. Os resultados destacaram como problemas enfrentados pelo familiar cuidador a necessidade de internações hospitalares frequentes, ser a única pessoa com o vírus na família, sofrer preconceito na família e na escola; apresentar atraso no crescimento e problemas psicológicos. É necessário que assumamos o nosso papel educativo junto a estas famílias no sentido de auxiliá-las no desenvolvimento de estratégias efetivas de cuidado à criança (AU).

This study aimed to investigate the perception of the family caregiver regarding the problems faced by the child in relation to her diagnosis of Human Immunodeficiency Syndrome. A qualitative, exploratory and descriptive study was undertaken in a Day Hospital which is a center of excellence in the South of Brazil, in the second semester of 2014. The participants were 10 family caregivers of children attended in the service. The data were collected through semistructured interviews and underwent content analysis. The results emphasized the following as problems faced by the family caregiver: the need for frequent inpatient treatment, being the only person with the virus in the family, suffering prejudice within the family and at school, presenting growth delays and psychological problems. It is necessary for nurses to take responsibility for our educational role with these families so as to help them develop effective strategies for caring for the child (AU).

Estudio cuyo intuito fue conocer la percepción del familiar cuidador acerca de los problemas enfrentados por el niño delante del diagnóstico de Síndrome de la Inmunodeficiencia Humana. Se realizó investigación cualitativa, exploratoria y descriptiva en un Hospital Día referencia del sur del país, en el segundo semestre de 2014. Participaron diez familiares cuidadores de niños atendidos en el servicio. Los dados fueron obtenidos por medio de entrevistas semi estructuradas y sometidos al análisis de contenido. Los resultados destacaron como problemas enfrentados por el familiar cuidador la necesidad de internaciones hospitalarias frecuentes, el hecho de ser la única persona con el virus en la familia, sufrir prejuicio en la familia y en la escuela; presentar retraso en el crecimiento y problemas psicológicos. Es necesario que nosotros enfermeros asumamos nuestro papel educativo con estas familias a fin de ayudarlas en el desarrollo de estrategias efectivas de cuidado al niño (AU).

Quantificação em escala de bancada do volume de ar em ligações prediais de água / Measuring air volume in household pipes by means of a pilot scale study

A presente pesquisa em escala piloto, simulando trecho de uma rede interligada a um ramal predial, visou quantificar o volume de ar aferido pelos hidrômetros residenciais. Para tal fim, testaram-se ventosas, bloqueadores de ar e válvulas eliminadoras de ar. Sob condições normais de operação da rede, o volume de ar medido pelos hidrômetros é comparável ao encontrado na água natural, não justificando a instalação de equipamento de eliminação de ar de qualquer natureza. Todavia, logo após esvaziamento da rede interligada ao ramal, a sobremedição pode atingir até 21 por cento em condições de pressão máxima na rede de distribuição (500 kPa). Por fim, verificou-se que a menor vazão afluente associa-se ao maior volume de ar aferido pelo hidrômetro. Dessa forma, é possível supor que os consumidores situados na menor faixa de consumo sejam os mais prejudicados pela situação de desabastecimento.

The purpose of the present work is to evaluate the volume of air measured in domestic water supply pipe connections. Tests were performed to evaluate the efficiency and applicability of air reducing valves in domestic water supply connections. The results obtained under regular water supply conditions showed that the volume of air in the water measured by the hydrometers is comparable to the one found in natural waters. On the other hand, other tests, right after emptying the network connected to the domestic water supply pipe, revealed that the volume of water which gets to the gauged reservoir comprehends up to 21 percent of the total air-water volume recorded by the hydrometer for the experiments performed under pressure of 500 kPa.

Percepção dos profissionais de Saúde da Família sobre a qualidade de vida no trabalho

O presente trabalho teve como foco a qualidade de vida dos profissionais que atuam na Estratégia de Saúde da Família da Diretoria de Saúde, Saneamento e Desenvolvimento Ambiental da Prefeitura Municipal de Juiz de Fora. O objeto deste estudo foi, portanto, as equipes que compõem a Estratégia de Saúde da Família. Discutimos o processo saúde-doença, trabalho em equipe e as atribuições das equipes da Estratégia de Saúde da Família, segundo o Ministério da Saúde. A metodologia utilizada foi a pesquisa qualitativa através de entrevistas semi-estruturadas com profissionais de 5 equipes que atuam na ESF. A análise das entrevistas nos demonstra que os profissionais entrevistados possuem, em sua maioria, especialização ou capacitação para atuarem na ESF, acreditam no trabalho que realizam e investem para alcançar os objetivos dessa Estratégia. Destaca-se, também que não existe participação interdisciplinar na atenção primária e menos ainda integração entre os demais setores da PMJF, ficando até mesmo o apoio dos administradores passível de questionamentos. Os entrevistados relatam ter um bom relacionamento e ressaltam a importância do trabalho em equipe. Constatou-se, ainda, a necessidade de educação continuada, para aprimorar a qualificação dos profissionais, com a finalidade de complementar e atualizar conhecimento, trocas de experiências e suporte técnico científico. A questão salarial é outro questionamento que fazem ressaltando a falta de vontade política de se resolver esta questão. São levantadas propostas para planejamento de reestruturação do espaço físico das UBS, formação de equipes de suporte para melhorar a qualidade de vida dos profissionais e, consequentemente, da população assistida pelos mesmos. (AU)