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V Jirásek

Publications and source records attributed to V Jirásek.

At least 19 recordsLinked to original sources
PubMed2006

[Hereditary forms of colorectal adenomatous polyposis].

BACKGROUND: Hereditary colorectal adenomatous polyposis syndromes are a predisposition to colorectal carcinoma development. The familial adenomatous polyposis is the most common analyzed syndrome that results from germline mutations in the APC gene. In addition to, the autosomal recessive form of polyposis has been recently reported. This disease is caused by germ-line mutations in the base excision repair MYH gene. The goal of this study is the identification of genetic causes of the colorectal polyposis, the determination of the frequency and type of the APC and MYH germ-line mutations in the set of families with colorectal polyposis in Czech population. METHODS AND RESULTS: The set of 103 probands with FAP was screened for germ-line APC mutations using the Protein Truncation Test and Denaturing Gradient Gel Electrophoresis. The MYH mutational screening was performed on 60 unrelated patients without detected APC mutations using the Denaturing High Performance Liquid Chromatography. Automated sequencing was carried out to identify found mutations. Totally, the 51 germ-line APC mutations (69,9%) are reported in the set of 72 probands including 31 novel mutations unique for Czech population. Molecular genetic analysis of the MYH gene revealed 15 DNA variations (25 %) including two patients identified as p.Y 165C/p.G382D compound heterozygotes (3,3%) and 13 polymorphisms or intronic changes (21,7%). The novel variants were detected in the 5 patients. CONCLUSION: Present study reflects the extremely heterogenous spectrum of the APC mutations in Czech population and confirms the previously reported data. However, the changes found in the MYH gene still need more extensive studies. Our results are important for genetic counselling and further clinical management among at-risk family members. It also enables distinction among different types of the colorectal polyposis.

Adenomatous Polyposis Coli↗
PubMed2002

[Diagnosis of familial adenomatous polyposis].

Familial adenomatous polyposis (FAP) is a hereditary disease with autosomal dominant transmission, it is a practically 100% precancerosis. For detection of further patients in the family careful examination of the patient and all subjects at risk, i.e. above all grade 1 relatives, is decisive. The presented paper summarizes the author's own experience with the follow up and examination of a group of 96 patients from 42 families. The group of patients has been assembled gradually since 1967. The basis of the examination is preparation of a pedigree, somatic examination, endoscopic examination of the large intestine and the oral portion of the digestive tract. Examination of the ocular fundus is valuable as it evaluates the presence of congenital hypertrophy of the retinal pigmented epithelium (CHRPE). A positive finding in relatives permits conclusions on the presence of FAP. Most evidence is provided by molecular genetic examination at the DNA level which makes presymptomatic diagnosis of FAP possible.

Adenomatous Polyposis Coli↗
PubMed2001

Phenotype of cytochrome P450 CYP2D6 in patients with familial adenomatous polyposis.

This paper describes an attempt to establish the distribution of the oxidative phenotype of sparteine in patients with familial adenomatous polyposis (FAP). The oxidative polymorphism of sparteine was determined in 30 patients with FAP. One hundred and twenty-six normal subjects were examined as a control group. Subjects with urinary metabolic ratios (MR) greater than 20 (the metabolic ratio of sparteine/dehydrosparteines excreted in urine) were defined as poor metabolizers of sparteine. None of the patients were classified as poor metabolizers of sparteine, although 5 control subjects were. No significant differences were found in the distribution of frequencies between patients and control subjects. However, there was a higher metabolic ratio (mean 1.58 +/- 1.13) in 5 patients with malignant changes in large bowel adenomas compared with other FAP patients without malignant changes (mean MR 0.89 +/- 0.66).

Adenomatous Polyposis Coli↗
PubMed1999

[Long-term results of ileo-rectal anastomosis in familial polyposis].

The authors present their experience with 93 patients operated at the First Surgical Clinic of the General Faculty Hospital and First Medical Faculty, Charles University Prague on account of familial adenomatous polyposis (FAP) assembled during 36 year starting in 1962. They analyze 91 patients followed up in collaboration with the First Medical Clinic of the General Faculty Hospital and First Medical Clinic Charles University Prague. Seventy-two of the patients were operated and in 55 of them an ileorectoanastomosis was made following subtotal colectomy. Two important findings were made. From the group of 91 patients incl. primary patients who suffered already from advanced malignant disease of the large bowel a total of 38.5% died. In the rectal stump after ileorectoanastomosis on average within 16 years after operation in 16.4% of the patients a malignant tumour was found. This leads to the belief that patients should be recommended colectomy with ileoanoanastomosis with an ileal reservoir. This operation was performed during the last five years in nine patients with this condition, using a one-stage or two-stage procedure with temporary ileostomy.

Adenomatous Polyposis Coli↗
PubMed1998

[Assessment of the need for and length of hospitalization at the internal medicine department].

We used the Appropriateness Evaluation Protocol (AEP) to evaluate appropriateness of admission and continuing hospitalization (daily till discharge of maximally till 15th day of hospitalization) of 260 patients admitted consecutively to department of internal medicine of a teaching hospital. Reasons of inappropriate admissions and delayed discharges were classified and analyzed. Results of the valuation of some patients were subject to control by a committee of fully specialized hospital physicians. 63 (24%) of 260 admissions and 1005 (54%) of 1869 evaluated days of stay failed the AEP criteria. These patients could be well served by lower treatment intensity in outpatient clinics, nursery homes or their own homes. Such a shift in pattern of provided care requires profound organizational changes many of which are out of reach of individual acute hospitals. Despite some limitations we find AEP a useful tool for internal utilization review. External application of AEP in a representative sample of acute care hospitals could provide important data for future development of the Czech health care system.

Hospitalization↗
PubMed1997

[Familial adenomatous polyposis coli in the Czech population. I. Detection of an additional 3 mutations out of a total of 7 in exon 15 of the APC gene].

BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by multiple adenomatous polyps in the colon which progress to carcinoma. FAP is caused by germ-line mutation of the tumor-suppressor adenomatous polyposis coli (APC) gene, the structure and coding sequence of which have been known from 1991. The diagnosis of FAP has classically been based on the detection of multiple colorectal adenomas, often after carcinoma development. Presymptomatic genetic testing for the presence of an allele carrying the FAP mutation is now possible using a variety of techniques. METHODS AND RESULTS: The present paper is the first part of an analysis of 37 different Czech families with 83 members affected by FAP. Our goal is to identify the mutation characteristic for each family for early diagnosis of FAP. We screened clinically manifest representatives of nine families for mutations in exon 15 of the APC gene. First, we searched for the mutation hot spots (codons 1061 and 1309, respectively) and later for the entire exon 15. Denatured gradient gel electrophoresis (DGGE) of amplified regions ov exon 15 has been used to identify DNA sequence variations followed by sequencing verification. In seven patients, seven different mutations in exon 15 of APC gene, four deletion mutants (5-base deletions in codons 1061 and 1309, 1-base deletion in codons 759 and 7-base deletion combined with a 2-base insertion in codon 712), one insertion mutation (1-base/A/insertion in codon 1554) and two point mutations (C to T and C to A substitutions in codons 737 and 935, respectively, in both cases leading to formation of stop codons) have been found. CONCLUSIONS: From seven different mutations found, 4 mutations have been previously described (mutations in codons 935, 1061, 1309 and 1554), 3 mutations in the APC gene are described here for the first time, namely the mutations in codons 712, 759 and 767.

Adenomatous Polyposis Coli↗
PubMed1996

[Treatment of duodenal ulcer with pantoprazole. A multicenter study].

BACKGROUND: The inhibition of H+/K(+)-ATPase (proton pump) of gastric parietal cells by substituted benzimidazoles represents a new therapeutic approach in conditions connected with hypersecretion of hydrochloric acid. Pantoprazol is the newest member of this group of drugs. Monotherapy of duodenal ulcer with pantoprazole or ranitidine was evaluated in terms of healing rate, tolerance and compliance. METHODS AND RESULTS: A double-blind, parallel-group comparing study (double dummy technique) of treatment florid duodenal ulcer (diameter 5-20 mm) was performed in 95 subjects (age 18-74 years). The active substances were either pantoprazole (40 mg before breakfast-47 subjects) or ranitidine (300 mg before bedtime-48 subjects). The average diameter of the ulcer and subjective complaints before treatment were comparable in both groups. After 2 weeks of pantoprazole therapy 88.5% of ulcers (a) and 87.2% patients (b) were cured, whereas the corresponding values in the ranitidine series amounted to 66% (a) and 62.5% (b) only (p = 0.006 for both (a) and (b)). The rate of healing in relative values of reducing the ulcer size was significantly higher after 2 weeks of pantoprazole therapy (p = 0.026 (a) and 0.0027 (b)). All ulcers healed after 4 weeks of this regimen. The difference between the pantoprazole and ranitidine series after 4 weeks was closely above the 5% level of significance (p = 0.589 for (a) and 0.0588 for (b) respectively). This was due to the low number of patients in both groups at this time interval, particularly in the pantoprazole group. Pain during day-time and regurgitation were observed significantly more frequently after ranitidine therapy. The compliance was very good and practically no adverse effects of pantoprazole therapy were observed. CONCLUSIONS: The healing rate of duodenal ulcer with pantoprazole monotherapy (40 mg before breakfast) was significantly higher than with ranitidine (300 mg before bedtime). The compliance of patients and the tolerance of pantoprazole were very good and its administration was not associated with any side-effects.

2-Pyridinylmethylsulfinylbenzimidazoles↗
PubMed1995

[Drugs affecting gastric acidity in the therapy of ulcer disease].

The most substantial factor in the pathogenesis of peptic ulcers of the gastroduodenum is a preserved HCl secretion (frequently hypersecretion) and the presence of Helicobacter pylori. In some of the ulcers a part is played by non-steroid antirheumatic drugs. In the treatment inhibition of acid secretion by antagonists of H2 receptors proved useful as they heal approximately 80% ulcers in the course of four weeks. Drugs of this group however, do not resolve the main problem of anti-ulcerous treatment, i.e. the liability of ulcers to relapse. 70-80% of the patients develop a relapse within one to two years. Moreover, in 5-10% of the patients the ulcers are resistant to treatment with H2 receptor antagonists. An obvious advance in treatment are inhibitors of the proton pump which intensely inhibit HCl secretion independently on the type of stimulation. At present in clinical practice omeprazole, lansoprazole and pantoprazole are used, all being derivates of benzimidazole. They are the drugs of choice in ulcers resistant to H2 receptor antagonists, in severe forms of reflux oesophagitis in Zollinger-Ellison's syndrome, in ulcers induced by non-steroid antirheumatics. The most substantial fact is that in combination with amoxacillin (or another suitable antibiotic) in 70-80% of cases they eradicate also Helicobacter pylori and heal in a large percentage (70-80%) the ulcerous defect within two weeks.

Anti-Ulcer Agents↗
PubMed1994

[Regional chemotherapy in the treatment of biliary tract tumors].

BACKGROUND: Subjective complaints of patients with tumours of the biliary tree are late, early diagnosis is difficult and frequently impossible, the therapeutic results are unsatisfactory and the prognosis is poor. Surgical intervention is in more than 90% palliative, the tumours are not radiosensitive and their sensitivity to systemically administered cytostatics is low. The perspective of some patients was improved by implantation of bilioduodenal endoprostheses. The objective of the submitted work was to assemble experience with this method in patients with tumours of the upper portions of the biliary tree. METHODS AND RESULTS: Between January 1991 and May 1993 75 patients (42 females and 33 males, aged 48-65 years) with malignancies of the upper and middle part of the biliary tree were treated. Bilioduodenal endoprostheses (BDE) were inserted endoscopically in 70 patients. In 21 of them stenting was combined with regional chemotherapy via an implantable portho catheter. For patients with BDE alone, the median survival time was 18 months, for those with BDE and chemotherapy the median survival was 23 months (p < 0.01). 5-fluorouracil in monocombination was as potent as in combination with carmustine and/or doxorubicin. CONCLUSIONS: Endoscopic implantation of a bilioduodenal endoprosthesis with subsequent regional administration of 5-fluorouracil is an important therapeutic procedure in the treatment of malignant tumours of the upper and middle biliary tree.

Aged↗
PubMed1993

[Therapy of peptic ulcer].

After a historical review of therapeutic methods of peptic ulcer the author discusses contemporary views on therapy. As a basis he uses the idea that Helicobacter pylori is the decisive factor for the development of peptic ulcers. Therefore the basis of treatment should be its eradication by bismuth salts. Despite this at present the basis of treatment are antagonists of H2 receptors. Economic aspects are important. In repeatedly relapsing ulcers with evidence of Helicobacter pylori the author recommends eradication by a combination of drugs.

Peptic Ulcer↗
PubMed1991

[Ocular changes in Gardner syndrome].

In hereditary adenomatosis of the large bowel (familial polyposis) extraintestinal manifestations of the disease are common: hyperostosis, dental anomalies, soft tissue tumours, desmoid tumours etc. Patients with marked extracolic signs are described as patients with Gardner's syndrome. Recently a further sign is described--foci of congenital hypertrophy of the pigmented retinal epithelium. The authors examined 22 patients with confirmed hereditary adenomatosis (Gardner's syndrome). The typical finding of pigmented foci on the fundus was recorded in 18 subjects (82%) incl. 9 subjects (50%) where the finding was bilateral. The authors examined also 25 children of these patients. In those a positive finding was recorded in 11 (44%). Ophthalmological examination can contribute in a significant way to detection of an asymptomatic subject with hereditary adenomatosis, in particular when seeking risk patients in an affected family. Evaluation of ophthalmological changes can also contribute to the solution of some special genetic problems of this disease.

Adolescent↗
PubMed1990

[Cesium transfer in short food chains].

An investigation of 25,000 samples of foodstuffs and feedstuffs in Czechoslovakia, contaminated by fall-out cesium after the accident in the Chernobyl nuclear power plant, performed from May 5, 1986 to March 31, 1988, revealed that both the values of cesium transfer-factors in food--animal tissues--milk transitions and the values of biological half-life of cesium are functions of internal and external conditions of contamination. Organism individuality as the main internal condition causes the variance of about +/- 50% of the mean value of the respective transfer-factor. Through the external conditions, mainly the environmental contamination level, type of ingested food and time of ingestion, the mean values of transfer-factors are influenced up to 500%, e.g. to the value of 0.5. But this value converges with growing up contamination of food and environment to the limit of 0.3. The first two to three biological half-lives after the last ingestion of contaminated food are up to ten-times shorter than those at stabilized state.

Accidents↗
PubMed1989

[Aspects of long-term ingestion of contaminated food by cattle and game].

A radioactive contamination monitoring system of the Czechoslovak Federal Ministry of Agriculture and Food is described, including measuring and calibration methods and the monitoring results. Cesium contamination higher than the international derived intervention level was found only in game. The reasons were as follows: uncultivated green fields, forest herbage and needle-leaves are sufficient sources of game contamination; there exist evident differences between continuous ingestion of contaminated or mixed feed with respect to the cesium contamination of tissues.

Animal Feed↗
PubMed1985

Changes in serum cathepsin B-like activity in patients with colorectal cancer.

Cathepsin B-like activity (CB-like) was estimated in sera of 30 male patients with colorectal cancer (n = 20), benign polyps of the rectum (n = 10) and in sera of control subjects (n = 50). Both total and residual activities of the enzyme in colorectal cancer patients showed a significant elevation in comparison with control subjects and patients with benign polyps. In the course of antitumor therapy a decline in catheptic activity was observed when a reduction in the volume of tumor tissue was present. On the other hand, an increment in CB-like activity was observed when antitumor therapy had no effects or tumor relapse was present.

Cathepsin B↗