Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital

Objectives: To analyze the efficiency of a multigenic targeted massively parallel sequencing panel related to endocrine disorders for molecular diagnosis of patients assisted in a tertiary hospital involved in the training of medical faculty. Material and methods: Retrospective analysis of the clinical diagnosis and genotype obtained from 272 patients in the Endocrine unit of a tertiary hospital was performed using a custom panel designed with 653 genes, most of them already associated with the phenotype (OMIM) and some candidate genes that englobes developmental, metabolic and adrenal diseases. The enriched DNA libraries were sequenced in NextSeq 500. Variants found were then classified according to ACMG/AMP criteria, with Varsome and InterVar. Results: Three runs were performed; the mean coverage depth of the targeted regions in panel sequencing data was 249×, with at least 96.3% of the sequenced bases being covered more than 20-fold. The authors identified 66 LP/P variants (24%) and 27 VUS (10%). Considering the solved cases, 49 have developmental diseases, 12 have metabolic and 5 have adrenal diseases. Conclusion: The application of a multigenic panel aids the training of medical faculty in an academic hospital by showing the picture of the molecular pathways behind each disorder. This may be particularly helpful in developmental disease cases. A precise genetic etiology provides an improvement in understanding the disease, guides decisions about prevention or treatment, and allows genetic counseling

Reproductive biology of Cattleya eldorado, a species of Orchidaceae from the Amazonian white sand campinas

The orchid plants are highly prized for their lush exotic flowers. It is the largest plant family with more than 24000 species, which indicates a high diversity of forms and adaptations to different environments, including the capacity to attract, deceive and manipulate visitors involved in cross-pollination. Cattleya eldorado occurs in areas of white sand campinas, a typical vegetation type of the Amazon region, which is under strong anthropogenic pressure. This work's main objectives to know the biological processes of C. eldorado providing subsidies to maintain and manage it in its natural habitat. This study was conducted from 2000 to 2006 in the Campina Biological Reserve, during its flowering period. C. eldorado is an epiphytic orchid species that has the melittophyly syndrome and is adapted to its pollinator, the bee Eulaema mocsaryi recognizing their flowers by smell and by visual stimuli, through their color and reflection of ultraviolet light. C. eldorado is self-compatible, even if it requires a pollinating agent for the transfer of the pollinarium until its deposition in the stigmatic cavity of the flower.", 'enAs Orchidaceae são muito apreciadas por suas flores exóticas e exuberantes. É a maior família de plantas apresentando mais de 24000 espécies, o que denota uma alta diversidade de formas e adaptações a diferentes ambientes, como também para atração, engano e manipulação de visitantes na realização da polinização cruzada. Cattleya eldorado ocorre em áreas de campinas, que são formações vegetais típicas da região amazônica, que se encontram sob forte ação antrópica. Este trabalho tem como um de seus principais objetivos conhecer parte dos processos biológicos de C. eldorado fornecendo subsídios para conservá-la e manejá-la em seu habitat natural. Este estudo foi desenvolvido na Reserva Biológica de Campina, de 2000 a 2006, durante a sua floração. C. eldorado é uma espécie epifítica que apresenta a síndrome de melitofilia, estando adaptada ao seu polinizador, a abelha Eulaema mocsaryi, que reconhece suas flores pelo odor e pelo estímulo visual através de sua coloração e reflexão de luz ultravioleta. C. eldorado é uma espécie autocompatível, embora necessite de um agente polinizador para a transferência do polinário até sua deposição na cavidade estigmática da flor

First record of Eufriesea laniventris (Ducke, 1902) (Hymenoptera, Apidae, Euglossini) in the state of Amazonas, Brazil

The first record of Eufriesea laniventris in the state of Amazonas is here reported. Attracted to 1.8 cineole and methyl salicylate fragrances, six specimens were colected in the region of Manaus (2º 36' S 60º 02' W) during the year 2000.", 'enÉ registrada pela primeira vez a ocorrência de Eufriesea laniventris no Amazonas. No ano 2000, foram coletados seis exemplares na região de Manaus (2º 36' S e 60º 02' W) atraídos pelas substâncias odoríferas 1,8 cineol e salicilato de metila