Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.
Effects on the fatty acid composition of cod (Gadus morhua) and salmon fillets (Salmo salar) after pan-frying in margarine and olive oil were determined. The fatty acids of the margarine used were 55.5% saturated (SFA), 33.0% mono-unsaturated (MUFA) and 11.5% polyunsaturated (PUFA). The olive oil used contained 15.4% SFA, 76.1% MUFA and 8.5% PUFA. Using margarine or olive oil increased the SFA and MUFA percentages, respectively, in both species. For cod fillets (lean), pan-frying increased the fat content (0.55-4.15 g/100 g and 0.55-2.30 g/100 g before and after pan-frying, with margarine and olive oil, respectively), whereas, for salmon fillets (fat), it decreased (13.91 to 10.57 g/100 g and 15.35 to 12.95 g/100 g before and after pan-frying with margarine and olive oil, respectively). In conclusion, the culinary fat selection affects the total fatty acid content and composition of the prepared fish fillet.
Pancreatic islet cell tumours have been mainly associated with multiple endocrine neoplasia syndrome type 1. In our case we demonstrate a direct relationship of this tumour to tuberous sclerosis complex, in the absence of further signs of multiple endocrine neoplasia syndrome type 1.
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