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Background: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations occur in 15% of familial isolated pituitary adenoma (FIPA) cases. To date, studies have focused on the identification of such mutations in large international cohorts. Detailed genetic and clinical studies within AIP mutation-positive families have been limited. Aim: To undertake a comprehensive study of a large Brazilian FIPA kindred with an E174 frameshift (E174fs) AIP mutation to assess clinical, hormonal, and radiological features in mutation carriers. Methods: The kindred included 122 subjects across six generations; all underwent clinical examination. Genetic studies were performed to identify E174fs mutation carriers. E174fs-positive subjects underwent magnetic resonance imaging (MRI) and hormonal assessments. Results: Of the ten germline AIP mutation carriers, three had pituitary tumors, while seven were asymptomatic carriers. Three patients with pituitary tumors showed variability in terms of tumor phenotype (two with acromegaly, one with prolactinoma, or mixed prolactin/GH-secreting tumor) and age at diagnosis; both patients with acromegaly had poor responses to octreotide. Tumor AIP immunohistochemistry from the operated patient showed decreased expression when compared with normal tissue. Two adult subjects with normal MRI had elevated IGF-I in the absence of other causes. A 2-year-old child with the E174fs mutation and a normal MRI had premature thelarche, ovarian development, and advanced bone age in the absence of other underlying causes. Conclusions: The penetrance of pituitary tumors in AIP mutation-positive adult subjects was 33.3%, while clinical/hormonal features were variable. The features noted in AIP-mutation carriers in this kindred suggest that clinical characteristics of such carriers may extend beyond pituitary tumors.

Financial Support: CNPQ, CAPES, FAPESP.Rhodolith beds are important marine benthic ecosystems, representing oases of high biodiversity among sedimentary seabed environments. They are found frequently and abundantly, acting as major carbonate 'factories' and playing a key role in the biogeochemical cycling of carbonates in the South Atlantic. Rhodoliths are under threat due to global change (mainly related to ocean acidification and global warming) and local stressors, such as fishing and coastal run-off. Here, we review different aspects of the biology of these organisms, highlighting the predicted effects of global change, considering the additional impact of local stressors. Ocean acidification (OA) represents a particular threat that can reduce calcification or even promote the decalcification of these bioengineers, thus increasing the ecophysiological imbalance between calcareous and fleshy algae. OA should be considered, but this together with extreme events such as heat waves and storms, as main stressors of these ecosystems at the present time, will worsen in the future, especially if possible interactions with local stressors like coastal pollution are taken into consideration. Thus, in Brazil there is a serious need for starting monitoring programs and promote innovative experimental infrastructure in order to improve our knowledge of these rich environments, optimize management efforts and enhance the needed conservation initiatives. AbstrActDescriptors: Algae, Conservation, Brazil, Global warming, Pollution, Ocean acidification.Bancos de rodolitos formam oásis de alta biodiversidade em ambientes marinhos de fundo arenoso. Os rodolitos são formados por espécies bioconstrutoras, que fornecem abrigo e substrato para diversas e abundantes comunidades bentônicas. No Brasil esses ambientes são frequentes, representando grandes "fábricas" de carbonato com um papel fundamental no ciclo biogeoquímico do carbono no Atlântico Sul. Estes organismos e ambientes estão ameaçados pelas mudanças climáticas (principalmente a acidificação dos oceanos e o aquecimento global) e pelos estressores locais, tais como os impactos causados pela pesca e as descargas costeiras de efluentes. Neste trabalho fazemos uma revisão da taxonomia, filogenia e biologia desses organismos, com destaque para os efeitos previstos das mudanças climáticas e suas relações com estressores locais. A maioria dos estudos acerca dos efeitos das mudanças climáticas e da acidificação dos oceanos em algas calcárias relatam respostas negativas não só no crescimento e na calcificação, mas também no processo de fotossíntese, espessura da parede celular, reprodução e sobrevivência das algas. Este cenário reforça a necessidade em estabelecer uma consistente rede de trabalho para proporcionar um programa de monitoramento amplo e de longo prazo, bem como infraestrutura para avaliações experimentais de impactos locais e regionais das mudanças climáticas e dos estressores locais em bancos de rodolitos.

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