. "Klinick\u00E1 gastroenterol\u00F3gia a s\u00FA\u010Dasn\u00E1 genetika Crohnovej choroby: rie\u0161ime modern\u00FD alebo iba m\u00F3dny probl\u00E9m?" . "16370" . . "Z\u00E1ujem o geneticky podmienen\u00FA etiol\u00F3giu Crohnovej choroby (CD) sa zvy\u0161uje najm\u00E4 od objavu mut\u00E1cii g\u00E9nu NOD2, ktor\u00FD m\u00E1 zrejm\u00FD vz\u0165ah k tejto chorobe. Po\u010Detn\u00E9 klinicko-genetick\u00E9 \u0161t\u00FAdie dokazuj\u00FA vysok\u00FA geografick\u00FA a etnick\u00FA variabilitu v\u00FDskytu mut\u00E1cii tohto g\u00E9nu a poukazuj\u00FA na ich prel\u00EDnanie sa medzi oboma ne\u0161pecifick\u00FDmi \u010Drevn\u00FDmi z\u00E1palmi. V centre pozornosti klinick\u00FDch gastroenterol\u00F3gov stoja najm\u00E4 d\u00F4sledky nosi\u010Dstva mut\u00E1cii g\u00E9nu NOD2 vo vz\u0165ahu k veku vzniku, lokaliz\u00E1cii a k chovaniu CD. Ciele pr\u00E1ce: 1. Zisti\u0165 frekvenciu mut\u00E1cii g\u00E9nov NOD2, ICAM 1 a CCR5 v s\u00FAbore slovensk\u00FDch pacientov s CD a s ulcer\u00F3znou kolit\u00EDdou (UC). 2. Potvrdi\u0165 proklamovan\u00FA \u00FAlohu faj\u010Denia pri t\u00FDchto z\u00E1paloch a \u010Falej vz\u0165ah mut\u00E1cii g\u00E9nu NOD2 k predpokladan\u00E9mu ni\u017E\u0161iemu veku vzniku, ileocek\u00E1lnej lokaliz\u00E1cii a k preva\u017Ene fistuluj\u00FAcej forme CD. 3. Zisti\u0165 frekvenciu prel\u00EDnania mut\u00E1cii g\u00E9nu NOD2 medzi oboma vy\u0161etrovan\u00FDmi podskupinami pacientov s ne\u0161pecifick\u00FDmi \u010Drevn\u00FDmi z\u00E1palmi. S\u00FAbor pacientov a met\u00F3da: Spolu 27 pacient" . . "2"^^ . "RIV/62157124:16370/07:00001081!RIV08-MZ0-16370___" . . "1"^^ . "Klinick\u00E1 gastroenterologie a sou\u010Dasn\u00E1 genetika Crohnovy choroby: \u0159e\u0161\u00EDme modern\u00ED nebo jen m\u00F3dn\u00ED probl\u00E9m?"@cs . "3-4" . . . "Barto\u0161ov\u00E1, Ladislava" . "429143" . . "Klinick\u00E1 gastroenterologie a sou\u010Dasn\u00E1 genetika Crohnovy choroby: \u0159e\u0161\u00EDme modern\u00ED nebo jen m\u00F3dn\u00ED probl\u00E9m?"@cs . . . "2-7" . "CZ - \u010Cesk\u00E1 republika" . . . "B\u00E1tovsk\u00FD, Marian" . "Clinical gastroenterology and current genetics of Crohn\u00B4s disease ? are we solving a modern or only fashion problem?"@en . "Klinick\u00E1 gastroenterol\u00F3gia a s\u00FA\u010Dasn\u00E1 genetika Crohnovej choroby: rie\u0161ime modern\u00FD alebo iba m\u00F3dny probl\u00E9m?" . "5" . "Clinical gastroenterology and current genetics of Crohn\u00B4s disease ? are we solving a modern or only fashion problem?"@en . "1214-4088" . "Clinical gastroenterology and current genetics of Crohn's disease - are we solving a modern or only a fashion problem? Background and aim of study: The rising attention in genetically determined aetiology of Crohn's disease (CD) is observed particularly after discovery of NOD2 gene mutations, which are evidently involved in its development. A number of clinical genetic studies have demonstrated high ethnic and geographic variations in the occurrence of NOD2 gene mutations and showed its overlap in inflammatory bowel disease, CD and ulcerative colitis (UC). Clinical gastroenterologists are focused on the consequences of NOD2 gene mutations because it is important to know whether these genetic alterations identify patients who will have a worse prognosis regarding age of inception, localisation and behaviour of CD. The objective of this study was a) to evaluate the frequency of NOD2, ICAM 1 and CCR5 gene mutations (homozygous and heterozygous) in a set of Slovak CD and UC patients, b) to confi"@en . "Folia Gastroenterologica et Hepatologica" . "6"^^ . "[D3C801E24853]" . "P(NR9342)" . . "Pr\u00E1ce se zab\u00FDv\u00E1 geneticky podm\u00EDn\u011Bnou etiologi\u00ED Crohnovy choroby. C\u00EDlem pr\u00E1ce bylo zjistit frekvenci genetick\u00FDch mutac\u00ED vybran\u00FDch gen\u016F na souboru slovensk\u00FDch pacient\u016F. Pr\u00E1ce uk\u00E1zala, \u017Ee mezi genotypem t\u00E9to choroby je pravd\u011Bpodobn\u00FD vztah. Bude nutn\u00E9 prov\u00E9st dal\u0161\u00ED studie pro up\u0159esn\u011Bn\u00ED v\u00FDsledk\u016F."@cs . "CCR5"@en . . "RIV/62157124:16370/07:00001081" .