Synoviálni sarkom (SS) v oblasti hlavy a krku je u dětí velmi vzácné onemocnění a synoviální sarkom jazyka u kojence dosud nebyl popsán. V kazuistice popisujeme zkušenosti s léčbou bifázického SS jazyka u 8měsíční dívky, který je podle našich vědomostí první publikovanou kazuistikou v anglické literatuře.
Synovial sarcoma (SS) arising from head and neck region in children is very rare. No case of synovial sarcoma of tongue in an infant has been reported. We report a case of biphasic SS of tongue in 8-months-old female making it the first documented case of English language literature.
Apolipoprotein B (apo B) is the major protein component of LDL, VLDL and chylomicrons. Numerous polymorphisms of the apolipoprotein B gene have been described. Particularly, the insertion/deletion polymorphism located in the coding part of the signal peptide of apo B, associated with modification of lipid concentrations and the risk of cardiovascular disease, has been reported in the general population. No such study in the Tunisian population has been performed. The aim of our study was to assess the effect of insertion/deletion polymorphism of the apolipoprotein B gene on lipid levels in a sample of the Tunisian population. A total of 458 unrelated subjects (321 men and 137 women) were included. The insertion/deletion polymorphism was determined by electrophoresis on polyacrylamide gels after PCR amplification. The relative frequencies of the Ins and Del alleles were 0.74 and 0.26, respectively. These frequencies were similar to those found in other Caucasian populations. There was no significant difference in serum TC, TG, and HDL-C levels due to the influence of the genotypes. However, significant variation among the three genotypes was seen for LDL-cholesterol (p<0.001) and apo B (p<0.001) levels. Individuals homozygous for the Del allele had higher levels than individuals homozygous for the Ins allele, while individuals heterozygous for both alleles exhibited intermediate levels. When the data were analyzed in men and women separately, a similar effect was seen in both groups. Our results show that distribution of apo B insertion/deletion polymorphism in Tunisians is similar to other Caucasian population and confirm the reported association with serum LDL-cholesterol and apo B concentrations.
- MeSH
- apolipoproteiny B genetika krev metabolismus MeSH
- epidemiologické studie MeSH
- financování organizované MeSH
- interpretace statistických dat MeSH
- kardiovaskulární nemoci komplikace MeSH
- LDL-cholesterol genetika krev MeSH
- lipidy genetika krev MeSH
- polymerázová řetězová reakce metody využití MeSH
- polymorfismus genetický genetika MeSH
