[Bone changes in gastrointestinal diseases]
Payer J. Killinger Z. Duris I.
I. interna klinika Fakultnej nemocnice v Bratislave.
BACKGROUND: Gastrointestinal (GIT) diseases are a common cause of metabolic bone changes. The aim of the study was to indicate GIT diseases (lactose intolerance, non-lactose intolerance, Crohn's disease, ulcerative colitis, pancreatic insufficiency, states after gastric resection, chronic diseases of the liver, and coeliac disease) by means of literature data and the authors' own results coinciding with the detected low bone density and thus increased risk of fracture. Bone changes coinciding with GIT diseases are frequent and are commonly asymptomatic for a long period. CONCLUSION: In coincidence with GIT diseases the authors indicate the necessity of being aware of the risk of bone changes development and to investigate them actively. An early diagnosis aids to introduce preventive and therapeutical measures and to halt or at least slow down the origin of bone changes. (Ref. 21.)
[The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia]
Kadasi L. Polakova H. Zatkova A. Kayserova H. Hruskovic I.
Ustav molekularnej fyziologie a genetiky Slovenskej akademie vied v Bratislave.
Up to present, more than 500 mutations have been described in the CFTR gene of patients affected by cystic fibrosis (CF). The vast majority of them, however, are extremely rare, and in fact, were detected only in the original reported cases. This study is aimed at analysis of 9 known mutations in the CFTR gene in CF patients within the population of Slovakia. The region in question of the human genome was analysed by means of polymerase chain reaction (PCR), digestion with the appropriate restriction enzyme, followed by electrophoretic separation of generated DNA fragments. 7 different mutations were identified on 234 CF-chromosomes, which made up 74.36% of all CF-mutations: delta F508--59.4%, G542X--5.56%, R553X--3.42%, N1303K--2.99%, R347P--1.71%, W1282X--0.85%, and 3849 + 10kb--0.43%. In 57.26% of patients mutations were identified on both homological chromosomes, in 33.33% on one of them, and only in 9.4% of patients there were none of the analysed mutations found. These results provide a good basis for the planning and setting up of an effective strategy for direct DNA-based diagnosis of CF in Slovakia. (Tab. 4, Ref. 19.)
[Positive effects of essential phospholipids and improvement of life style in patients with toxic liver injury]
Holoman J. Glasa J. Hlavaty I. Veningerova M. Prachar V. Lukacsova M.
Subkatedra klinickej farmakologie Institutu pre dalsie vzdelavanie pracovnikov v zdravotnictve v Bratislave, Slovakia.
Within an open, non-randomized clinical study, the authors investigated the effect of a three-month therapy by a standard product of so-called essential phospholipids in a group of patients (31 men and 2 women, average age being 45.6 +/- 10.8 years) with toxic liver damage--steatosis and steatohepatitis which have developed after exposure to the polychlorinated phenols and cresols, or other potentially toxic chemical substances occurring in working environment and/or exposition to alcohol. The therapy included a recommended change in life routine with a decrease in alcohol consumption, or entire exclusion of alcohol abuse. Within the process of observation, the authors used non-invasive methods (clinical examinations, laboratory examinations, ultrasonographic examination). A special attention was paid to the evaluation of the biotransformation capacity the liver and the assessment of spartein-debrisoquin-dextromethorphan metabolic fenotype. The results of investigation indicated: (1) significant improvement of the subjective status of the treated patients associated with an improvement of ultrasonographic findings of liver steatosis, trend of withdrawal of biochemical activity indices and favourable development of the biotransformation capacity of the liver in a majority of the investigated patients. (2) A very good tolerance of the administered drug without adverse effects. The use of non-invasive surrogate markers in coincidence with clinical investigation of the effect of applied medicamentous therapy in patients with chronic liver diseases represents a methodic increase in current modest options of evaluation of effectively and safety of the new therapeutic procedures in clinical hepato-pharmacology. (Tab. 5, Ref. 42.)
[Treatment of portal hypertension]
Kupcova V. Szantova M. Turecky L.
III. Interna klinika Lekarskej fakulty Univerzity Komenskeho v Bratislave, Slovakia.
The therapy of portal hypertension depends to a significant extent on its clinical manifestation. In cases of acute haemorrhage from oesophageal varices in patients with portal hypertension, the objective of the therapy is to stop the haemorrhage (endoscopically, or by compression by means of a balloon probe) and to decrease the pressure and the reflux within the portal vascular bed. Urgent sclerotisation under the simultanous pharmacologic decrease of portal hypertension is successful in 93-95%. There is an alternative procedure residing in introducing a balloon probe for several hours and subsequent repeated sclerotisation until a complete eradication of varices is achieved regarding the prevention of haemorrhage exacerbation. Urgent surgical solution is on the basis of the results of various investigated studies reserved for patients in whom endoscopic sclerotisation was not successful. Indication of surgical therapy must be also deliberated in candidates for liver transplantation, regarding the possible consequent technical problems after some types of interventions. Endoscopic sclerotisation of oesophageal varices is also an appropriate preparation for transplantation of the liver in patients with liver cirrhosis included into the transplantation programme. TIPS is a perspective new method in the therapy of portal hypertension of both, non-bleeding varices, as well as in other indications. It is also a certain intermediating link in therapy in some patients with liver cirrhosis on the waiting list of candidates for liver transplantation. Pharmacotherapy is a significant part of the portal hypertension therapy. It is appropriate to combine the endoscopic treatment with pharmacotherapy of portal hypertension in both, cases of acute haemorrhage, as well as in the prevention of haemorrhage exacerbation. In cases of acute haemorrhage, the combination of glypressin with nitroglycerin is justified, as well as the therapy by somatostatin. The prevention of haemorrhage exacerbations uses a whole series of vasoactive substances, especially nitrates, beta-blockers and ACE inhibitors. The prevention of the first bleeding includes the prophylactic therapy (endoscopic, pharmacologic, or surgical) recommended only in a selected group of patients under high risk of bleeding. The possible perspective option will reside especially in the combined pharmacological therapy, the fact of which will have to be proven in the future. (Fig. 1, Ref. 25.)