7 research outputs found

    Acromegaly and Cushing's syndrome caused by a neuroendocrine tumor arising within a sacrococcygeal teratoma.

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    A 60-year-old man with a pre-existing stable sacrococcygeal teratoma developed acromegaly, ectopic Cushing's syndrome, and 5HIAA secretion. To our knowledge, this represents the first reported case of ACTH and serotonin secretion, and likely GHRH or GH cosecretion, from a sacrococcygeal teratoma in an adult

    Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours

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    The majority of pituitary tumours are monoclonal in origin and arise sporadically or occasionally as part of multiple endocrine neoplasia type 1 (MEN1). Whilst a multi-step aetiology involving both oncogenes and tumour suppressor genes has been proposed for their development, the target(s) of these changes are less clearly defined. Both familial and sporadic pituitary tumours have been shown to harbour allelic deletion on 11q13, which is the location of the recently cloned MEN1 gene. We investigated 23 sporadic pituitary tumours previously shown to harbour allelic deletion on 11q13 with the marker PYGM centromeric and within 50 kb of the MEN1 locus. In addition, the use of intragenic polymorphisms in exon 9 and at D11S4946, and of telomeric loci at D11S4940 and D11S4936, revealed that five of 20 tumours had loss of heterozygosity (LOH) telomeric to the menin gene. However, the overall pattern of loss in informative cases was indicative of non-contiguous deletion that brackets the menin gene. Sequence analysis of all MEN1 coding exons and flanking intronic sequence, in tumours and matched patient leucocyte DNA, did not reveal mutation(s) in any of the 23 tumours studied. A benign polymorphism in exon 9 was encountered at the expected frequency, and in seven patients heterozygous for the polymorphism the tumour showed retention of both copies of the menin gene. Reverse transcription polymerase chain reaction analysis of ten evaluable tumours and four normal pituitaries revealed the presence of the menin transcript. Whilst these findings suggest that gene silencing is unlikely to be mechanistic in sporadic pituitary tumorigenesis, they do not exclude changes in the level or stability of the transcript or translation to mature protein. Our study would support and extend very recent reports of a limited role for mutations in the MEN1 gene in sporadic pituitary tumours. Alternatively, these findings may point to an, as yet, unidentified tumour suppressor gene in this region

    Sponge epibionts on ecosystem-engineering ascidians: The case of Microcosmus sabatieri

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    The study of epibionts on habitat engineering ascidians is of increasing interest because changes in the population structure of the latter may affect associated communities, especially in the case of commercially exploited species. The solitary ascidian Microcosmus sabatieri lives on rocky cliffs in the Eastern Mediterranean and is harvested in certain Aegean areas. Its hard, wrinkled tunic is usually fouled by various epibionts both sessile and motile. Sponges are an important component of this complex and their biomass may be higher than that of the ascidian itself, strongly affecting diversity and abundance of the motile epifauna. The aim of this study was to examine in detail the structure of the epibiotic sponge assemblage on ascidians collected from their main fishing grounds in the South Aegean Sea. A rich (41 species) and taxonomically diverse sponge assemblage was found, while only eight species contributed 80% of the total sponge cover. Most of the epibiotic sponges commonly grow on the surrounding sublittoral cliffs. The encrusting sponge growth form prevailed in cover of the ascidian tunic, while two massive species dominated in terms of frequency of appearance and abundance. Ascidian dimensions, weight and volume were significantly correlated with sponge diversity, abundance and cover area, thus structuring the epibiotic sponge assemblage. Spatial patterns in sponge cover were not clear, but a general declining NW to SE trend in sponge richness, abundance and cover appeared in accordance with previous records. Sponge distribution on the ascidian tunic presented a clear pattern related with characteristic features of the ascidian: the posterior zone supported the richest and most expansive sponge fauna. The ecosystem-engineering process performed by the ascidian is enhanced by the diverse epibiotic sponge assemblage, thus further increasing habitat complexity in this space-limited, temperate, sublittoral, rocky environment. (C) 2009 Elsevier Ltd. All rights reserved

    Acromegaly and Cushing's syndrome caused by a neuroendocrine tumor arising within a sacrococcygeal teratoma.

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    Multiple endocrine neoplasia type 2A syndrome presenting with corneal nerve thickening

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    Published version, accepted version (12 month embargo), submitted versionThe article is available via Open Access. Click on the 'Additional link' above to access the full-text
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