BACKGROUND AND AIMS: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) has to date been recognized in only 8 families worldwide. Recently, different point mutations within the Ying Yang 1 (YY1) binding motif in promoter 1B of the APC gene were assigned as causal in 6 families with GAPPS. METHODS: We diagnosed GAPPS across 3 generations in a Czech white family. RESULTS: The proband's mother died of gastric cancer at 49 years of age. The proband died of gastric cancer at 56 years of age. All 3 of the proband's daughters inherited polyposis, involving exclusively the gastric fundus and body, with relative sparing of the lesser curve. The daughters have all been regularly surveyed endoscopically. Polyposis progressed rapidly with intestinal differentiated low-grade and high-grade dysplasia present on polypectomy specimens 5 years after the original diagnosis. On this basis, all 3 of the proband's daughters were scheduled for prophylactic total gastrectomy. Unfortunately, the middle daughter presented with generalized gastric adenocarcinoma and died at the age of 26 years. The other 2 daughters (aged 30 and 23 years) underwent total gastrectomy within 6 weeks of their sister's death; histology of surgical specimens showed gastric adenocarcinoma stage IA (pT1a, N0, M0) in both cases. Bi-directional Sanger sequencing of promoter 1B revealed a point mutation (c.-191 T>C) in all 3 daughters of the proband. CONCLUSIONS: Atypical endoscopic progression of the fundic gland polyposis, with the presence of dysplasia on polypectomy specimens and genetic testing with recently discovered mutations in promoter 1B of the APC gene might help clinicians to decide whether prophylactic gastrectomy should be performed.
- MeSH
- adenokarcinom komplikace genetika prevence a kontrola MeSH
- adenomové polypy komplikace genetika patologie chirurgie MeSH
- dospělí MeSH
- gastrektomie MeSH
- gastroskopie MeSH
- geny APC * MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mutace MeSH
- nádory žaludku komplikace genetika patologie prevence a kontrola chirurgie MeSH
- polypy komplikace genetika patologie chirurgie MeSH
- promotorové oblasti (genetika) MeSH
- rodokmen MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
Electrogastrography (EGG) is a non-invasive method for the assessment of gastric myoelectrical activity. Porcine EGG is comparable with human one. There are no data on the impact of moderate to high doses of atropine on EGG, neither in humans nor experimental pigs. The purpose of this study was to evaluate the effect of different doses of atropine on EGG in experimental pigs. Six fasting pigs entered the study three times in a random order. The baseline EGG recording lasted 20 min, followed by a 105-min EGG trial recording. Intramuscular atropine 1.5 mg (part 1), 3.0 mg (part 2) and 4.5 mg (part 3) was administrated after the baseline EGG. Atropine doses of 1.5 and 3.0 mg revealed a similar pattern in the EGG power course. After an initial increase (at the first 15-min interval), the areas of amplitudes decreased back to values comparable with basal levels and subsequently increased significantly again to the maximum at 105 min. The EGG power was quite different after the administration of 4.5 mg of atropine. Areas of amplitudes decreased gradually to the minimum values at 105 min after atropine administration. In conclusion, different dose-dependent changes in the EGG pattern were found after moderate to high doses of atropine.
- MeSH
- atropin * aplikace a dávkování farmakokinetika MeSH
- dospělí MeSH
- elektrodiagnostika MeSH
- elektromyografie * metody MeSH
- gastrointestinální motilita účinky léků MeSH
- migrující myoelektrický komplex * účinky léků MeSH
- omezení příjmu potravy MeSH
- prasata MeSH
- vztah mezi dávkou a účinkem léčiva * MeSH
- zvířata MeSH
- Check Tag
- dospělí MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- práce podpořená grantem MeSH
- pragmatická klinická studie MeSH
OBJECTIVE. Inflammatory bowel disease (IBD) can be associated with hypercoagulable disorders. Aim of this single-center, prospective study was an in-depth evaluation of acquired hypercoagulable states in IBD patients. METHODS. A total of 110 patients with Crohn's disease (CD) (aged 19-69; mean 40.5, median 38.5 years), 43 with ulcerative colitis (UC) (aged 17-72; mean 42, median 36 years), and 30 controls were enrolled. Full blood count, serum C-reactive protein (CRP), proteins C and S, activated protein C (APC) resistance, thrombin-antithrombin complex (TAT), F1+F2 fragments, tissue factor pathway inhibitor (TFPI) total and truncated, TFPI-factor Xa, tissue plasminogen activator (tPA) and PAI-I antigen were investigated in peripheral blood samples. RESULTS. Only 18 of 153 (11.8%) IBD patients had hemocoagulation parameters within normal range. Significant difference between IBD patients and controls was found in thrombocyte volume (p < 0.001), protein C (p = 0.025), protein S (p = 0.003), APC resistance (p < 0.001), F1+F2 fragments (p < 0.001), and tPA (p = 0.002). In CD patients who were divided into two subgroups according to serum CRP values (non-active disease: <5 mg/L; active disease ≥5 mg/L), thrombocyte count was significantly lower (p = 0.001), thrombocyte volume was significantly higher (p = 0.002), F1+F2 fragments were significantly lower (p = 0.007) and tPA was significantly higher (p = 0.038) in the subgroup with CRP <5 mg/L. In UC patients, no significant difference depending on CRP was found. CONCLUSIONS. Acquired hypercoagulable abnormalities in IBD patients are frequent. Patients with active CD, but not UC, displayed significantly different hemocoagulable parameters, when compared to non-active CD/UC subjects. In patients with active CD (with increased serum CRP concentration) and patients with active extensive UC found at endoscopy (despite low CRP values), prophylactic anticoagulation therapy should be considered.
- MeSH
- biologické markery krev MeSH
- Crohnova nemoc krev komplikace MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- prospektivní studie MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- trombofilie krev diagnóza epidemiologie etiologie MeSH
- ulcerózní kolitida krev komplikace MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
