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Introduction. High prevalence of elevated serum pancreatic enzymes in children with cholestasis with normal fecal elastase-1 concentrations has been documented. However, this state is related predominantly to biliary atresia. Therefore, we aimed to assess pancreatic damage by measuring serum pancreatic enzymes in patients with progressive familial intrahepatic cholestasis type 2 (PFIC type 2). Materials and methods. Twenty PFIC type 2 patients with normal serum bilirubin and bile acid concentrations were included in the study. Thirty pancreatic insufficient cystic fibrosis (PI-CF) patients, thirty patients with acute pancreatitis (AP) and thirty healthy subjects (HS) served for the purpose of comparison. In all subjects, serum lipase and elastase-1 levels were measured. Results. In all but one PFIC type 2 patients and all HS normal lipase activities were found. Serum elastase-1 concentrations were normal in all PFIC type 2 patients and HS. The enzyme levels were very similar in both groups studied. Lipase activities in PFIC type 2 patients were significantly higher than in PI-CF patients (p < 0.00001) and lower than in patients with AP (p < 0.00001). Serum elastase-1 levels in PFIC type 2 patients were significantly lower than in patients with AP (p < 0.00001) and not different from those in PI-CF patients. In conclusion. serum pancreatic enzymes in patients with PFIC type 2 are normal. No pancreatic damage in these patients could be detected.
EN
PAX8 gene encodes one of the transcription factors engaged in the regulation of proper development of thyroid gland as well as Müllerian and renal/upper urinary tracts. So far, six alternatively spliced transcripts were reported, however, sequences of only four were deposited in the NCBI database. Here, we evaluate a fragment of a novel variant of PAX8 mRNA formed by an alternative 3' acceptor site located in the second exon. The molecular outcome encompasses extension of the 5' untranslated region of exon two by 97 nucleotides as is evident from mRNA. This new insert may impair binding of mRNA to the ribosome and in consequence significantly decrease expression of the PAX8 protein. Here, we show for the first time that the novel insert in exon two might be associated with congenital thyroid hemiagenesis and influence development of different types of cancer.
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Inulin supplementation in rat model of pouchitis

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Available data indicates potential effectiveness of prebiotic therapy in alleviating inflammation and prolonging the remission in inflammatory bowel disease. Documented successes of such therapies were the basis for this study. So far, there is no data related to the effectiveness of inulin application in symptomatic or severe pouchitis in humans or in animal model. The aim of the study was to determine the effect of inulin supplementation on the expression of intestinal inflammation and feeding efficiency in rats with induced pouchitis. Twenty-four Wistar rats were operated. After induction of pouchitis animals were randomly divided into control and supplementation groups receiving, respectively, semi-synthetic diet with or without inulin (in a lower (LD) or higher (HD) dose: 2.5 % or 5 % of total dietary content of mass) for a period of 6 weeks. Selected nutritional parameters were assessed throughout the study. Histopathological and immunohistochemical analysis of pouch mucosa specimens was also performed. The energy intake, weight gain, feeding efficiency, quality of stools were comparable in all studied groups. The intensity of inflammation (Moskovitz scale) and adaptive changes (Laumonier scale) did not differ between compared groups. The tissue expression of pro- and anti-inflammatory interleukins (IL-1α, IL-6, IL-10 and IL-12) was not different either. Inulin supplementation does not improve the quality of stools or the expression of intestinal inflammation in rats with induced pouchitis. It has no impact on the intensity of pouch adaptation or on feeding efficiency.
EN
The local anesthesia in thyroid surgery is rarely used, only in selected patients. Majority of centers performing thyroid surgery with local anesthesia have possibility to convert to the general anesthesia.The aim of the study was to present our experiences with partial thyroidectomy under local anesthesia performed in 49 consecutive subjects in the Central African Republic (bilateral subtotal strumectomy, total resection of the one lobe, subtotal resection of the one lobe).Material and methods. All admitted patients with clinically significant goiter were accepted for surgical treatment. For infiltration anesthesia 1% lignocaine was used. Because of the shortage of medical resources, potential conversion to the general anesthesia was impossible. Before the operation patients had received an oral sedation and antibiotic. In 16 patients general anesthesia was used, in other 33 it was impossible.Results. Subtotal bilateral thyroidectomy was performed in 37 patients, 12 patients underwent lobectomy or partial lobectomy of the affected portion of the gland. There were no intraoperative and postoperative complications noticed in the reported group, including complications related to laryngeal nerve injury. The mean duration of the procedure was 127 minutes and mean medical follow-up was 3 days. General condition of all patients on the day of discharge from hospital was good.Conclusions. Surgery for goiter under local anesthesia may be a safe alternative where general anesthesia is not available or contraindicated for medical reasons. The infiltration anesthesia is simple to perform and reduces the number of complications potentially occurred at the C2-C4 neck plexus block.
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
Detection of mutations in families with a hereditary predisposition to colon cancer gives an opportunity to precisely define the high-risk group. 36 patients operated on for colon cancer, with familiar prevalence of this malignancy, were investigated using the DNA microarrays method with the potential detection of 170 mutations in MLH1, MSH2, MSH6, CHEK2, and NOD2 genes. In microarrays analysis of DNA in 9 patients (25% of the investigated group), 6 different mutations were found. The effectiveness of genetic screening using the microarray method is comparable to the effectiveness of other, much more expensive and time-consuming methods.
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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