Coeliac disease is an autoimmune disorder with genetic predisposition. The aim was to determine the frequency of HLA-DQ2 and HLA-DQ8 in Czech and Slovak patients and the healthy population. The study included 127 patients and 66 healthy volunteers. HLA-DQ2 was identified in 85.03% patients, and 24.24% healthy individuals (P=0.0001; OR17.7632; CI=8.4347-37.4088). HLA-DQ8 was identified in 11.81% patients and 15.5% healthy individuals. HLA-DQ8 occurred more often in HLA-DQ2-negative patients compared to HLA-DQ2-positive patients (P=0.0494; OR3.5; CI 1.0428-11.7468). At least one of the studied HLA-variants was found more often in patients than in healthy individuals (P=0.0001; OR58.8; CI 7.6856-449.8602).

• MeSH
• Celiac Disease genetics   pathology   MeSH
• Ethnicity genetics   MeSH
• Gene Frequency MeSH
• Genetic Predisposition to Disease MeSH
• Genetic Association Studies MeSH
• Haplotypes genetics   MeSH
• HLA-DQ Antigens genetics   MeSH
• Humans MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Czech Republic MeSH
• Slovakia MeSH

• Publication type
• Meeting Abstract MeSH

V našej práci prezentujeme prípad pacienta, u ktorého sa akútnym krvácaním do horného gastrointestinálneho traktu (GIT) po prvýkrát manifestoval primárny adenokarcinóm duodéna, postihujúci oblasť D 3. Krvácanie si v tomto prípade vyžiadalo akútne operačné riešenie. Adenokarcinóm duodéna je zriedkavé ochorenie, rovnako je zriedkavá aj jeho manifestácia akútnym krvácaním do GIT-u. Všeobecne, nádory sú príčinou krvácania do horného GIT-u len asi v 2,9 % prípadov. Medzi najčastejšie príčiny krvácania do horného GIT-u patria peptické vredy a erózie žalúdka a duodéna, ezofagálne varixy.

The case study presents a patient suffering from primary adenocarcinoma of the duodenum affecting an area D 3, first time manifested by acute upper gastrointestinal bleeding. In this case acute operative treatment was necessary. Duodenal adenocarcinoma is a rare disease and also a rare cause of acute GI bleeding. In general, tumours are the cause of bleeding in the upper GI tract only in about 2.9 % of all cases. The most common causes of upper GI bleeding include peptic ulcers, gastric and duodenal erosions, and oesophageal varices.

BACKGROUND: Approximately 10-28 % of patients experience adverse drug reactions related to treatment with thiopurines. The most serious reaction is myelosuppression, typically manifested as leucopenia, which occurs in approximately 2-5 % of patients. Other adverse drug reactions that often accompany thiopurine therapy are pancreatitis, hepatotoxicity, allergic reactions, digestive intolerance, arthralgia, febrile conditions, and rash. OBJECTIVE: The objective of this study was to assess the relationship between variant alleles of thiopurine S-methyltransferase (SNPs 238G > C, 460G > A and 719A > G), inosine triphosphate diphosphatase (SNPs 94C > A and IVS2 + 21A > C), and xanthine dehydrogenase (837C > T) and the occurrence of adverse drug reactions to azathioprine therapy. METHODS: Genotype was determined for 188 Caucasians diagnosed with inflammatory bowel disease treated with a standard dose of azathioprine (1.4-2.0 mg/kg/day). Allelic variants were determined by PCR-REA and real-time PCR methods. Results were statistically evaluated by use of Fisher's test and by odds ratio calculation. RESULTS: Variant genotype thiopurine S-methyltransferase predisposes to development of leucopenia (P = 0.003, OR = 5, CI 95 %, 1.8058-13.8444). Although not statistically significant, we observed a trend that suggested correlation between the occurrence of digestive intolerance and the variant genotype inosine triphosphate diphosphatase (P = 0.1102; OR 15.63, CI 95 %, 1.162-210.1094), and between the occurrence of pancreatitis and the variant allele xanthine dehydrogenase 837T (P = 0.1124; OR 12,1, CI 95 %, 1.15-126.37). CONCLUSION: The variant genotype thiopurine S-methyltransferase has been associated with the occurrence of leucopenia. The involvement of polymorphisms in inosine triphosphate diphosphatase and xanthine dehydrogenase genes in the development of digestive intolerance and pancreatitis will require further verification.

• MeSH
• Azathioprine adverse effects   therapeutic use   MeSH
• Gastrointestinal Diseases chemically induced   genetics   MeSH
• Genetic Predisposition to Disease MeSH
• Genotype MeSH
• Inflammatory Bowel Diseases drug therapy   MeSH
• Immunosuppressive Agents adverse effects   therapeutic use   MeSH
• Leukopenia chemically induced   genetics   MeSH
• Humans MeSH
• Methyltransferases genetics   metabolism   MeSH
• Pancreatitis chemically induced   genetics   MeSH
• Polymerase Chain Reaction methods   MeSH
• Polymorphism, Genetic MeSH
• Gene Expression Regulation MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Bežná variabilná imunodeficiencia (common variable immunodeficiency – CVID) je ochorenie charakterizované nízkou až nemerateľnou hladinou imunoglobulínov a zvýšenou vnímavosťou organizmu na infekcie. Je najčastejšou primárnou imunodeficienciou. CVID je heterogénna skupina imunologických ochorení neznámej etiológie, charakterizovaná poruchou protilátkovej odpovede. Príčina ochorenia nie je známa. Klinický obraz ochorenia, ako aj jej závažnosť varíruje od pacienta k pacientovi, preto aj názov variabilná. Prejavuje sa rekurentnými respiračnými infekciami, tráviacimi ťažkosťami v zmysle hnačiek a bolestí brucha, prítomné sú aj hematologické abnormality ako anémia či trombocytopénia. Cieľom opisovanej kazuistiky je pripomenúť CVID ako ochorenie so skutočne variabilným obrazom, ktoré sa môže prezentovať okrem iného aj gastrointestinálnym postihnutím. Pacienti s CVID a GIT symptomatológiou sú vo vyššom percente oproti zdravej populácii ohrození výskytom malígnych ochorení, ktorými sú práve lymfoproliferatívne malignity.

Common variable immunodeficiency (CVID) is a disease characterized by low to undetectable levels of serum immunoglobulins and increased susceptibility of the organism to infections. It is the most common primary immunodeficiency. CVID is a heterogeneous group of immunological diseases of unknown aetiology, characterized by impaired antibody responses. The cause of the disease is unknown. The clinical picture of the disease and even the severity varies from patient to patient, that’s why it is called variable. It manifests itself as a recurrent respiratory infection, digestive problems in terms of diarrhoea and abdominal pain and haematological abnormalities such as anaemia and thrombocytopenia are present. The aim of the described case reports is to point out that CVID is a disease with a variable actual picture that may be present, among others, with gastrointestinal involvement, and patients are at higher risk than healthy population of developing malignancies, which is often a lympho-proliferative malignancy.

Kapsulová endoskopia od svojho uvedenia do klinickej praxe umožnila vyšetrenie sliznice tenkého čreva, ktoré dovtedy bolo „tmavým miestom“ gastroenterológie. Kapsulová endoskopia je neinvazívne, bezpečné a pre pacienta príjemné vyšetrenie, na rozdiel od iných endoskopických metód, a nevyžaduje žiadnu sedáciu. Okrem vyšetrenia tenkého čreva kapsulová endoskopia sa začala používať aj na vyšetrenie pažeráka na detekciu pažerákových varixov a na vyšetrenie hrubého čreva na detekciu polypov. V budúcnosti ďalšie štúdie ukážu, či kapsulová endoskopia pažeráka a hrubého čreva nájde svoje pevné miesto medzi diagnostickými postupmi. Najbližší čas ukáže, či bude možné kapsulovú endoskopiu použiť na terapeutické výkony.

Since its use in clinical practice the capsule endoscopy has been used for examining the lining of the small intestine which was “a dark place“ of gastroenterology. Capsule endoscopy is a non-invasive, safe and comfortable examination, compared with other endoscopic methods, and no sedation is needed. Not only the small bowell is examined by capsule endoscopy but also the oesophagus for detection of oesophageal varixes and the colon large intestine for polyps detection. Future studies can show if capsule endoscopy of the oesophagus and the colon might root in diagnostic procedures. Capsule endoscopy maybe used for therapeutic interventions in next time.

Úvod: Vplyv genetických faktorov na etiológiu nešpecifických črevných zápalov (IBD) je významnejší pri Crohnovej chorobe (CD) ako pri ulceróznej kolitíde (UC). Klinickí gastroenterológovia sa zamerali najmä na nosičstvo polymorfizmu génu NOD2/CARD15 a jeho fenotypovú manifestáciu vzhľadom na vek vzniku ochorenia, jeho lokalizáciu a priebeh. Ciele práce: 1. Zistiť prevalenciu polymorfizmov génu NOD2/CARD15 v súbore pacientov s CD a s UC v porovnaní s kontrolnou skupinou, 2. Potvrdiť vzťah medzi nosičstvom génového polymorfizmu NOD2/CARD15 a a) predpokladaným vznikom ochorenia v nižšom veku, b) so suponovanou častejšou lokalizáciou v terminálnom ileu ako aj c) s predominantne strikturizujúcou formou ochorenia. Materiál a metódy: Vyšetrovaný súbor tvorilo 52 pacientov s CD, 41 pacientov s UC a 22 kontrolných jedincov bez IBD. Jednotlivé nukleotidové polymorfizmy génu NOD2/CARD15 spojené s CD (R703W, G9O8R a 1007fs) boli zisťované metódou polymerázovej reťazovej reakcie s následným štiepením špecifickými reštrikčnými endonukleázami. Po stanovení alelovej frekvencie týchto polymorfizmov bola špecifikovaná genotypovo-fenotypová korelácia. Rozdiely vo výskyte alelových frekvencií medzi IBD pacientmi a kontrolami ako aj fenotypové rozdiely boli štatisticky analyzované pomocou ANOVA testu. Výsledky: Alelová frekvencia sledovaných génových polymorfizmov NOD2/CARD15 bola signifikantne vyššia v súbore CD pacientov (30/52) než u UC pacientov (8/41, p = 0,007) ako aj v porovnaní s kontrolnou skupinou (3/22, p = 0,003), čo platilo najmä pre polymorfizmus génu 1007fs (p = 0,004, resp. p = 0,023) a pre homozygótov (p = 0,072, p = 0,014). Analýza genotypovo-fenotypových korelácii dokázala, že polymorfizmus génu NOD2/ CARD15 bol štatisticky významne spojený s nižším vekom pri vzniku CD (do 16 rokov, p = 0,001), Asociácie s lokalizáciou v terminálnom ileu a so strikturizujúcou formou CD neboli potvrdené (p = 0,189 a p = 0,270). Záver: V predkladanej štúdii sme potvrdili na Slovensku doteraz nezisťovanú asociáciu variant génu NOD2/CARD15 s CD, ktorá sa fenotypovo manifestuje nižším vekom pri vzniku tohto ochorenia.

Introduction: Influence of genetic factors in the aethiology of inflammatory bowel disease (IBD) is more important in Crohn's disease (CD) than in ulcerative colitis (UC). Clinical gastroenterologists have focused on the consequences of being a NOD2/CARD15 gene polymorphism carrier with respect to onset, localisation and behaviour of CD. The aims of the study: 1. To investigate the prevalence of polymorphisms in NOD2/CARD15 gene in Slovak patients with CD and with UC in comparison with healthy controls, 2. confirm the link between NOD2/CARD15 gene mutations and a) the supposedly lower age at disease onset, b) localisation in terminal ileum, c) the predominatly stricturizing form of CD. Set of patients and methods: In total 93 IBD patients (52 CD and 41 UC) and 22 controls without IBD were genotyped. The single nucleotide polymorphisms (SNP) NOD2/CARD15 gene associated with CD (R702W, G908R and 1007fs) were assessed using the restriction fragments lenght polymorphisms polymerase chain reaction in IBD patients and in healthy controls. The allele frequency of these polymorphisms was determined and genotype-phenotype correlation was specified. The difference in allele frequencies between IBD patients and the controls as well as differences between phenotypes were analysed statistically using ANOVA test. Results: The allele frequencies of studied NOD2/ CARD15 SNP were significantly higher in CD (30/52) compared with UC patients (8/41, p = 0.007) and with healthy controls (3/22, p = 0.003). This applied for the frequency of 1007fs polymorphism in particular (p = 0.004 and p = 0.023 respectively for UC and healthy controls), especially for homozygotes (p = 0.072, p = 0.014). In the analysis of genotype-phenotype correlations, NOD2/CARD15 gene polymorphisms were significantly associated with early-onset CD (under 16 years, p = 0.001). The association with terminal ileum localisation and stricturizing form of disease was not found (p = 0.1989 and 0.270 irresp.). Conclusion: In the present study, we confirmed the association of NOD2/CARD15 variants with CD in a population not studied so far. In addition, this association is characterized by a gene dose effect and the studied NOD2/CARD15 variants are related to early-onset disease.

• MeSH
• Crohn Disease diagnosis   etiology   genetics   MeSH
• Financing, Organized MeSH
• Humans MeSH
• Polymorphism, Genetic genetics   immunology   MeSH
• Nod2 Signaling Adaptor Protein genetics   immunology   MeSH
• Statistics as Topic MeSH
• Case-Control Studies MeSH
• Colitis, Ulcerative diagnosis   etiology   genetics   MeSH
• Age Factors MeSH
• Check Tag
• Humans MeSH
• Geographicals
• Slovakia MeSH

Biologická liečba ponúka nové možnosti konzervatívnej liečby IBD, vďaka ktorej sa výrazne zredukovala potreba chirurgickej liečby pacientov a výrazne sa im zlepšila kvalita života. V Centre biologickej liečby Gastroenterologickej kliniky SZU v Bratislave sa v súčasnosti používajú dve látky bielkovinovej povahy, pripravené metódou génového inžinierstva, infliximab – chimérická monoklonálna anti-TNF-alfa protilátka a adalimumab – rekombinantná monoklonálna anti-TNF-alfa protilátka. Tento článok sa zaoberá našimi doterajšími skúsenosťami s biologickou liečbou 59 pacientov, jej pozitívnym efektom aj nežiaducimi účinkami. Aktuálne je v liečbe 45 pacientov – 28 s Crohnovou chorobou a 17 s ulceróznou kolitídou. Najčastejšou indikáciou biologickej liečby boli u pacientov s Crohnovou chorobou fistuly (8 pacientov). Priemerná hodnota CDAI u pacientov s Crohnovou chorobou pred začatím liečby bola 216. Po podaní indukčnej dávky biologickej liečby poklesla na 103. Slizničné hojenie sme zaznamenali u 16/28 pacientov s Crohnovou chorobou a u 12/17 pacientov s ulceróznou kolitídou. Biologická liečba bola prerušená u 13/59 pacientov, najčastejšie pre alergiu (4 pacienti) a nonrespondibilitu (4 pacienti).

Biological therapy represents new possibilities of conservative treatment of IBD. It has led to a significant reduction in the need of surgical treatment of the patients and resulted in a significant improvement in the quality of their lives. The Centre of biological therapy of Gastroenterology clinic of SZU in Bratislava uses two agents of protein nature at present. The agents are prepared by the method of genetic engineering, infliximab – chimeric monoclonal antibody to TNF-alpha and adalimumab – recombinant monoclonal antibody to TNF-alpha. This article is dealing with our latest experience with the biological therapy of IBD in 59 patients, with its positive effects as well as its side effects. Actually there has been 45 patients under ongoing treatment – 28 with Crohn’s disease and 17 patients with ulcerative colitis. The most frequent indication for biological treatment were fistulas indicated in 8 patients with Crohn’s disease. The average value of CDAI in patients with Crohn’s disease before beginning of the treatment was 216. After administration of the induction dose of biological treatment it declined to 103. We noticed mucosal healing in 16/28 patients with Crohn’s disease and 12/17 patients with ulcerative colitis. Biological treatment was interrupted in 13/59 patients. Mostly due to allergy reactions (4 patients) and non-respondibility (4 patients).

22-ročná pacientka mala chirurgicky založenú hepatikojejunoanastomózu pre stenózu a malformáciu žlčovodov, ktoré vznikli ako dôsledok cholecystektómie komplikovanej biliárnou peritonitídou. Kazuistika ukazuje úspešnú liečbu recidivujúcich cholangitíd až cholangiosepsy kombináciou externej a internej endoskopickej drenáže.

Twenty two-years-old female patient with recurrent cholangitis and cholangiosepsis after hepaticojejunoanastomosis for stenosis and biliary tract malformation after cholecystectomy and biliary peritonitis was successfully treated by combination of endoscopic internal and external biliary drainage.

• MeSH
• Endoscopy MeSH
• Gastroenterology MeSH
• Societies, Medical MeSH
• Education, Professional MeSH
• Publication type
• Biography MeSH

• About
• Vavrečka, Anton, 1938- Authority