The aim of the present study was to introduce methods for exome sequencing of two ATP-binding cassette (ABC) transporters ABCC8 and ABCD2 recently suggested to play a putative role in breast cancer progression and prognosis of patients. We performed next generation sequencing targeted at analysis of all exons in ABCC8 and ABCD2 genes and surrounding noncoding sequences in blood DNA samples from 24 patients with breast cancer. The revealed alterations were characterized by in silico tools. We then compared the most frequent functionally relevant polymorphism rs757110 in ABCC8 with clinical data of patients. In total, the study identified 113 genetic alterations (>70 % novel ones) in both genes. Of these alterations, 83 were noncoding, 13 synonymous, 10 frameshifts and 7 were missense alterations. Four in silico programs predicted pathogenicity of two polymorphisms and four newly identified alterations. Rs757110 polymorphism in ABCC8 did not significantly associate with clinical data of the patients. In conclusion, exome sequencing identified several functionally relevant alterations in ABCC8 and ABCD2 genes that may further be used for a larger follow-up study aiming to assess their clinical significance., P. Soucek, V. Hlavac, K. Elsnerova, R. Vaclavikova, R. Kozevnikovova, K. Raus., and Obsahuje bibliografii
Článek pojednává o využití externalizačního rozhovoru při práci s poruchami příjmu potravy. Na základě konkrétního příběhu z terapeutické praxe je poukázáno na fakt, že využití tohoto způsobu práce je s klienty a klientkami s poruchami příjmu potravy velmi účinné. Klienti a klientky totiž často sami hovoří o jisté „rozdvojenosti“, mají toto své „druhé já“ pojmenováno, vedou s ním dialog. Rovněž hovoří o tom, že by něco velmi chtěli změnit, ale „něco nebo někdo v nich jim v tom brání“. Obvykle je externalizační rozhovor používán pro posílení zdravé části osobnosti proti příznaku či nemoci. V článku je s odkazem na praktickou zkušenost poukázáno na skutečnost, že způsob práce s externalizací u poruch příjmu potravy může být odlišný. Klíčem k uzdravení totiž není boj proti nemoci a její oslabení, ale vybudování spojenectví s ní. Teprve skrz toto spojenectví je v některých případech uzdravení možné. and The article is about the usage of the externalization dialogue in dealing with eating disorders. It is based on a concrete example from therapeutic practice and it is shown that this way of working with clients with eating disorders is very effective. These clients often speak of a certain “disunity“ in themselves. They have name for their “second self“ and they speak to it. They also talk about the fact that they really want to change something but “something or someone keeps their efforts off“. The externalization dialogue is generally used to reinforce the healthy part of personality against the symptom or disease. The article shows that regarding clients with eating disorders there may be different ways of employing this method. The process of full recovery is not a fight against the disorder and its weakening but a process of building an alliance with the disorder. Only thanks to this alliance the recovery is possible in some cases.