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EN
The numbers of patients with diagnosed Crohn's disease in Poland continue to be on the rise. It may be assumed that it is associated not with an increased incidence but with significant advancements in diagnostic techniques which in an increasingly better manner solve problems of abdominal pain. One of such methods is magnetic resonance enterography, which gives high hope in the diagnostics of Crohn's disease.The aim of the study was the evaluation of the results of magnetic resonance enterography (MREG) and their comparison with the results of histopathological examination o perioperative specimens.Material and methods. The clinical material comprised 48 patients with suspected Crohn's disease. Colonoscopy was performed in all the patients, followed by magnetic resonance enterography, which evaluated the lesion localisation, large intestine wall thickening, small intestine stenosis, mesenteric vessel proliferation, infiltration of surrounding adipose tissue, lymph node enlargement, presence of enteroenteral, enterovesical and enterocutaneous fistulas. Next, a surgical procedure was performed, with collection of specimen for histopathology. The examination results were compared with those of magnetic resonance enterography.Results. MREG was performed in 48 individuals. Suspected Crohn's disease based on the above examination was diagnosed in 35 cases, isolated small intestine inflammation - in 5, and fibrosis in the remaining 5 patients. No significant differences were found between the lesion localisation done by MREG or perioperativelly. Crohn's disease was confirmed by histopathology in 36 cases. The sensitivity of MREG with histopathology was 91.6%, and the specificity - 77.8%.Conclusions. Magnetic resonance enterography is a highly effective and sensitice method in the diagnostics of Crohn's disease, free of adverse effects and possible to be performed even in pregnant female patients.
EN
Familial adenomatous polyposis (FAP) is a colorectal cancer syndrome caused by a germline mutation inherited in an autosomal-dominant pattern with a 100% penetrance. Our detailed case report presents a history of a 55-year-old FAP female patient who had been under constant clinical observation for 30 years. The disease was diagnosed at the age of 22. The patient underwent restorative proctocolectomy with ileal pouch-anal anastomosis (PRC-IPAA). During our follow-up extra-colonic manifestations occurred such as a desmoidtumour, fundic gland polyps in the stomach and duodenal polyps also in the periampullary region. Apart from disease-related symptoms the patient manifested other complications such as small bowel adhesive obstruction, benign breast tumours, uterine myomas, cholelithiasisand thyroid nodules. Our analysis of the above case presents advantages of a long-term medical observation of a FAP patient carried out by a specialist surgical medical centre
EN
Intestinal polyposis syndromes include a group of diseases conditioned by the occurrence of hereditary mutations. The current paper presents a collection of DNA samples derived from persons from families with a diagnosed adenomatous polyposes which comprise: familial polyposis coli together with its recessive form, Turcot's syndrome, inherited mixed polyposis as well as persons with recognised hamartomatous polyposes: juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome and Proteus syndrome.The aim of the study was to present current achievements associated with the establishment of the DNA Bank for intestinal polyposis.Material and methods. Investigations were conducted on DNA isolated from cells of the peripheral blood. The search for mutations in APC, MUTYH, PTEN, BMPR1A, SMAD4 and STK11 genes preconditioning the occurrence of individual diseases was performed employing PCR-SSCP, PCR-HD, DHPLC as well as RFLP techniques and DNA sequencing.Results. At the present time, the DNA Bank comprises the total of 1097 DNA samples derived from 449 families with intestinal polyposis of which 945 samples come from persons in whose families Familial Adenomatous Polyposis (FAP) occurred. In addition, the collected data also contain material for analyses derived from 25 families with Peutz-Jeghers syndrome and 20 families with juvenile polyposis as well as single cases with the Cowden syndrome, Proteus syndrome and desmoid tumors. The performed molecular investigations allowed identification of mutations ranging from 44 to 50%.Conclusions. With regard to the quantity of the material collected for analyses and the efficacy level of the employed molecular methods, the obtained results are in keeping with the results found in the literature from the field of genetics and medicine and do not differ from world standards. The collection of data and materials for investigations in the case of rare diseases allows qualitative, organisational and economic optimisation of the performed investigations.
EN
Recent decades have seen a constant rise in the incidence of IBD in both adults and children. Despite considerable progress in the pharmacological treatment of this disease, surgery has become the more frequently used treatment modality in younger patients. In the presence of massive haemorrhage, free perforation, fulminate colitis or acute obstruction, only surgical intervention has a chance of saving the patient's life.The aim of the study was to present the results of surgical treatment of IBD in children and adolescents who were operated on in a department which copes with "adult surgery" in its everyday practice.Materials and methods. 235 patients were operated on for IBD in the years 1998-2005. There were 18 (7,66%) children in this group, 10 girls and 8 boys. 12 patients were diagnosed with ulcerative colitis (66.7 %) and (6) patients were diagnosed with Crohn's disease (33.3%). The age of the patients ranged from 12 to 17 years (mean 15.6). Among the 18 children, 10 (55.6%) were operated on for elective reasons and 8 (44.4%) of the interventions were emergencies (three perforations, two obstructions, one acute haemorrhage and one fulminate colitis). In all cases of ulcerative colitis, a two-step restorative proctocolectomy with J pouch anal anastomosis was performed. Patients with Crohn's disease were treated by limited (sparing)[it seems that either limited or sparing works here, pick one] bowel resection and/or strictureplasty.Results. There were no postoperative deaths in the study group. Postoperative complications were observed in 6 (33.3%) patients, the complications were ileus in 3 patients (1 patient demanded relaparotomy), pneumonia in 2 patients and wound suppuration with subsequent dehiscence in 1 patient. In one patient treated preoperatively with large doses of Imuran, the postoperative histology revealed a malignant lymphoma. Hospital stays ranged from 8 to 19 days (mean 12 days).Conclusions. Surgery for IBD in children and adolescents has become a widely accepted method, and it is often the only treatment modality that offers a chance of a cure. Restorative proctocolectomy should be considered earlier in many cases of younger patients with ulcerative colitis, prior to conservative treatment, as imunosupression and steroid therapy in particular produce undesired side effects. A consulting surgeon should be involved in the treatment of younger patients with IBD at a much earlier stage of therapy than is currently practiced.
EN
A total proctocolectomy with ileal pouch-anal anastomosis (IPAA) is considered the surgery of choice for definitive management of familial adenomatous polyposis (FAP) and some patients with ulcerative colitis (UC). However, this surgical treatment is often associated with pouchitis, a long-term complication that occurs mostly in UC patients. The purpose of this study was to better define the molecular background of pouchitis. A microarray-based survey was performed using pouch mucosal samples collected from 28 and 8 patients undergoing surgery for UC and FAP, respectively. There were 4,770 genes that significantly differentiated uninflamed from inflamed mucosal samples, and their functional features were represented mostly by metabolic and cell proliferation pathways. In contrast, functional analyses of aberrantly expressed genes between UC and FAP samples, irrespective of mucosal inflammation status, revealed multiple pathways and terms that were linked to changes in immune response. Interestingly, the comparison of uninflamed UC and FAP samples identified a set of 29 altered probe sets, including an inflammation-related transcript encoding a Charcot-Leyden crystal (CLC) protein. The most distinct changes in gene expression profiles differentiating uninflamed UC and FAP pouch mucosal samples were attributed to the Gene Ontology category innate immune response. Our study confirmed that alterations in immune responses can be found between patients who underwent surgery for UC and FAP, independent of the pouch inflammation status. This observation may be important when managing IPAA patients.
EN
Restorative proctocolectomy is considered a surgical treatment of choice in ulcerative colitis (UC) and familial adenomatous polyposis (FAP).The aim of the study was to evaluate postoperative complications in patients who underwent surgery for familial adenomatous polyposis and ulcerative colitis, on the basis of a retrospective data analysis.Material and methods. Data of 138 patients after restorative proctocolectomy performed between 1985 and 2008 were collected at routine follow-up visits in 2004-2008. We evaluated the presence of pouchitis, the degree of ileal pouch mucosa atrophy, the presence of ileal pouch mucosal metaplasia, the presence of ileal pouch malignancies, the necessity for diverting ileostomy, the necessity for pouch resection, and severe faecal incontinence.Results. Complications were observed in 45 (32.4%) patients. Thirty-seven patients developed pouchitis (26.6%). Low-degree dysplasia, severe dysplasia or malignancies were observed in total in 20 patients (14.4%). Six (4.3%) operated patients developed other analysed complications.Conclusions. The most common complications of restorative proctocolectomy were dysplasia and pouchitis. The most common complication in patients operated for UC was pouchitis. The low observed incidence of intestinal pouchitis may be attributed to the implemented prophylaxis of inflammation. Dysplasia was the most common complication in patients undergoing proctocolectomy for FAP. Due to an increased risk of dysplastic lesions as compared with UC patients, careful endoscopic follow-up examinations are obligatory in this patient group. Other analysed complications were uncommon and were mostly a consequence of chronic pouchitis. Clinical symptoms of pouch-related problems were similar in both analysed groups.
EN
Screening of the colon cancer seems to be important to improve the results of the surgical treatment. There are different screening programs, the most common use the fecal occult blood (FOB) tests or colonoscopy.The aim of the study was to evaluate the results of the colon cancer screening based on the FOB test and perform the algorhytm improving the effectiveness of the screening.Material and methods. 941 patients with the positive results of the FOB (immunochromatographic method) test were investigated. In all cases the rectosigmoidoscopy for the detection of the lower GI tract pathology was done. 312 patients were qualified to colonoscopy.Results. Adenomatous polyps and adenocarcinomas were detected in 116 patients. There was no correlation between clinical symptoms and the colorectal cancer. The colorectal cancer was recognized statistically more common at the patients with previous detected neoplasia, in the colon and other organs, with hereditary nonpolyposis colorectal cancer and with inflammatory bowel diseases.Conclusions. The colorectal cancer screening based on the FOB can be effective in the early recognition of the bowel malignancy. The previous questionnaire can eliminate from the FOB screening the patients without indications (previously done colonoscopy or barium enema) or with directly indications for colonoscopy.
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