[Digestive tract polyposes]. / Polypózy trávicího traktu.

The article provides an overview of hereditary polyposis syndromes of the digestive tract and genetic mechanisms in greater detail. A brief summary of the basic symptoms of the condition, including extra gastrointestinal signs, is given. Significant diagnostic procedures are listed. The therapy for these disease conditions is either operative or endoscopic.

[Gastroesophageal reflux disease. Standards of the Czech Society of Gastroenterology--actualization 2009]. / Refluxní choroba jícnu. Standardy Ceské gastroenterologické spolecnosti--aktualizace 2009.

Presently, gastroesophageal reflux disease is defined as a disorder where reflux of the stomach content is bothersome and/or brings about complications. The state when macroscopically detectable erosions of mucosa are present is known as erosive reflux disease and the term non-erosive reflux disease is used for the condition with no macroscopic erosions. Reflux oesophagitis is a frequent sign of the disease. A condition, where reflux symptoms persist or new occur and oesophagitis healing fails to take place despite maximum treatment, is classified as refractory gastroesophageal reflux disease. The main symptoms of gastroesophageal reflux disease include heartburn and regurgitation. Gastroesophageal reflux disease may, less frequently, manifest itself with isolated non-oesophageal symptoms, e.g. recurring upper respiratory tract infections or bronchial asthma. Etiopathogenesis involves refluxate, motility disorders, altered anatomic proportions, protective mechanisms disorder and external factors. Diagnosis takes place on the basis of typical symptomatology and endoscopic examination. Complications include bleeding, ulceration, strictures and Barrett's oesophagus. Lifestyle and dietary measures are an important treatment approach as are pharmacological (antisecretion and prokinetic agents) as well as surgical management.

[Lower dyspeptic syndrome. Recommended diagnostic and therapeutic procedures for general practitioners 2006]. / Dolní dyspeptický syndrom doporucený diagnostický a lécebny postup pro vseobecné praktické lékare 2006.

Lower dyspeptic syndrome is a bowel disease manifesting namely with pain or sensation of abdominal discomfort and bowel movement problems (changes in the frequency and stool consistency). Symptoms include sensation of intraabdominal pressure and fullness, diarrhoea (with or without pain), sensation of incomplete defecation, constipation or bowel movement problems (with or without pain), irregular stool, collywobbles and bowel content flow (borborygia with spasms), meteorism, flatulency. Prevalence of the Irritable Bowel Syndrome in the European population is estimated to be 5 to 25 %. In the Czech Republic the total prevalence of dyspepsias is about 13 %. To the pathogenesis of the lower dyspeptic syndrome contribute: 1. abnormal motility, 2. abnormal visceral perception, 3. psychosocial factors, 4. luminal factors, 5. imbalance of neurotransmitters and/or intestinal bacteria and 6. possible inflammatory changes of the intestinal mucosa. Infectious diarrhoea is one of the causes. Functional bowel defects represent various combinations of chronic and recurrent symptoms from the digestive tract which cannot be explained by structural or biochemical abnormalities. Irritable bowel syndrome is a functional defect manifesting with abdominal pain, intestinal dyspepsia and compulsive defecations. Subtypes with typical symptomatology are characterized by circumstances which bring about pain and compulsive defecations (morning fractional defecation, postprandial defecation, debacles). Functional diarrhoea manifests with diarrhoea without intensive pain. Spastic obstipation manifests by abdominal pain, obstipation, compulsive defecations are absent, stool is cloddish, fragmented by spastic haustration, or it has a ribbon-form. Changes in the intestinal chemism include fermentative and putrefactive dyspepsia. Among the incomplete and atypical forms the isolated meteorism, irregular defecation, flatulency, abdominal pain--syndrome of the left or right epigastium or the syndrome of the right hypogastrium can be included. In patients with typical set of symptoms the working diagnose of the lower dyspeptic syndrome can be done by general practitioner. Complete history of the disease can reveal possible extra abdominal cause of dyspepsia, recognise alarming symptoms and consider circumstances elevating or lowering the probability of functional problems. Functional bowel problems have usually long-term character and represent clinically demanding challenge. Only few therapeutic regimens are successful and the therapy aimed at the abolishment of one symptom need not bring general improvement. For the clinical studies of the therapy of functional bowel problems significant placebo effect is typical. Quoad vitam prognosis is good, quoad sanationem it is rather doubtful.

[Incidence of hiatal hernias in the current endoscopic praxis]. / Výskyt hiátové hernie v bezné endoskopické praxi.

BACKGROUND: Hiatal hernia represents penetration of the oral part of stomach together with the distal part of oesophagus via oesophageal hiatus into the thoracic cavity. On the basis of endoscopic examination hiatal hernia is defined as circular pull out of the gastric mucosa longer then 2 cm from the diaphragm to Z line, measured at the end of examination during removing the endoscope. Hiatal hernia is usually an acquired state which can worsen oesophagitis by holding refluxate and thus by prolonging the duration of purgation. METHODS AND RESULTS: Endoscopic and radiological studies show that 50 to 94 % of patients with gastroesophageal reflux disease have an axial hiatal hernia while in control persons the incidence fluctuates between 13 % and 59 %. Hiatal hernia is a frequent finding during upper gastrointestinal endoscopy. Hernia can contribute to the development of reflux into the proximal oesophagus. A cohort of one thousand patients (18 to 94 years) who underwent upper gastrointestinal endoscopy was analysed retrospectively. Endoscopy was performed between January and June 2005 at the Endoscopic center of the 4th Medical Department of the University Hospital in Prague. CONCLUSIONS: Presented study has shown that in patients who underwent endoscopy, hiatal hernia occurs in 16.6%, more frequently in men (53.6%). The most common type is an axial hiatal hernia with incidence of 94.58%. In 50% of patients with hiatal hernia the reflux oesophagitis of various degrees was diagnosed.

[Hereditary forms of colorectal adenomatous polyposis]. / Hereditární formy kolorektální adenomatózní polypózy.

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.

[Diagnosis of familial adenomatous polyposis]. / Vysetrování u familiární adenomatózní polypózy.

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.

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).

[Long-term results of ileo-rectal anastomosis in familial polyposis]. / Dlouhodobé výsledky ileorektoanastomóz u familiární polypózy.

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.

[Assessment of the need for and length of hospitalization at the internal medicine department]. / Hodnocení nutnosti a délky hospitalizací na interním oddelení.

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.

[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]. / Familiární adenomatózní polypóza tlustého streva v ceské populaci. I. Odhalení trí nových z celkového poctu sedmi mutací v patnáctém exonu genu APC.

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.

[Treatment of duodenal ulcer with pantoprazole. A multicenter study]. / Lécení dvanáctníkového vredu pantoprazolem. Multicentrická studie.

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.

[Drugs affecting gastric acidity in the therapy of ulcer disease]. / Léky ovlivnující zaludecní aciditu v terapii vredové nemoci.

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.

[Regional chemotherapy in the treatment of biliary tract tumors]. / Prínos regionální chemotherapie v lécbe nádoru biliárního systému.

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.

[Therapy of peptic ulcer]. / Terapie peptického vredu.

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.

[Ocular changes in Gardner syndrome]. / Ocní zmeny u Gardnerova syndromu.

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.

[Cesium transfer in short food chains]. / Prechody cesia v krátkých potravních retezcich.

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.

[Aspects of long-term ingestion of contaminated food by cattle and game]. / Aspekty dlouhotrvající ingesce kontaminované potravy u hovezího dobytka a zvere.

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.