Biomedical subjects
Publications and source records attributed to J Hájek.
The case report dissertates upon successful treatment of iatrogenic perforation of distal oesophagus with subcutaneous emphysema, pneumoperitoneum and pneumomediastinum. The endoclips and classic conservative treatment were used in therapy. The patient was treated 3 hours after the injury, no early or late complications related to perforation were noted.
INTRODUCTION AND AIM: The authors discuss paliative treatment using coated and bare metallic stents in a prospective randomized study for inoperable oesophageal carcinomas. The aim of this study is to assess the following parameters in both treatment groups: duration of the stents functionality, survival rates, complications rates and histological findings. METHODS: From 1999 to 2003, the total of 60 patients with oesophageal and cardial carcinomas were randomized. They had either bare (N-31 subjects) or coated (P-29 subjects) stents introduced. The patients were followed-up at one-month intervals. RESULTS: No statistical differences between the groups were found when the above parameters were assessed. DISCUSSION: The complications rate depended on the patients survival period in both stent types. Survival rates depended on the disease stage of the local tumorous process and on the individual patient's condition prior to the treatment. CONCLUSION: The study showed that the metallic selfexpandible stents treatment method may become a widely used paliative procedure in patients with malignant dysphagia, however, it has not proved any differences in complication rates depending on the stent coating.
The effect of high light on spatial distribution of chlorophyll (Chl) fluorescence parameters over a lichen thallus (Umbilicaria antarctica) was investigated by imaging of Chl fluorescence parameters before and after exposure to high light (1500 micro mol m (-2) s (-1), 30 min at 5 degrees C). False colour images of F (V)/F (M) and Phi (II) distribution, taken over thallus with 0.1 mm (2) resolution, showed that maximum F (V)/F (M) and Phi (II) values were located close to the thallus centre. Minimum values were typical for thallus margins. After exposure to high light, a differential response of F (V)/F (M) and Phi (II) was found. The marginal thallus part exhibited a loss of photosynthetic activity, manifested as a lack of Chl fluorescence signal, and close-to-centre parts showed a different extent of F (V)/F (M) and Phi (II) decrease. Subsequent recovery in the dark led to a gradual return of F (V)/F (M) and Phi (II) to their initial values. Fast (30 min) and slow (1 - 22 h) phase of recovery were distinguished, suggesting a sufficient capacity of photoprotective mechanisms in U. antarctica to cope with low-temperature photoinhibition. Glutathione and xanthophyll cycle pigments were analyzed by HPLC. High light led to an increase in oxidized glutathione (GSSG), and a conversion of violaxanthin to zeaxanthin, expressed as their de-epoxidation state (DEPS). The responses of GSSG and DEPS were reversible during subsequent recovery in the dark. GSSG and DEPS were highly correlated to non-photochemical quenching (NPQ), indicating involvement of these antioxidants in the resistance of U. antarctica to high-light stress. Heterogeneity of Chl fluorescence parameters over the thallus and differential response to high light are discussed in relation to thallus anatomy and intrathalline distribution of the symbiotic alga Trebouxia sp.
Percutaneous endoscopic gastrostomy (PEG) is an efficient endoscopic method that ensures enteral nutrition for a longer period of time in patients who cannot take food per os. This method is also indicated in patients suffering from disorders of the central or peripheral nervous system which developed suddenly, such as a stroke or craniocerebral injuries, or gradually, such as amyotrophic lateral sclerosis (ALS), dementia, and multiple sclerosis. It has become common practice in the cooperation between neurologists and a gastroenterologists to use PEG in patients hospitalized in a neurological ward with encephalomalacy and haemorrhage, or craniocerebral injuries (after the patient recovers from the acute stage of the disease and is transferred to a neurological ICU), as well as in patients with ALS in a progressive stage. We gradually extend the indications of PEG for other patients with neurological disorders such as patients suffering from dementia, progressive multiple sclerosis, Parkinson's disease, and progressive polyneuropathy. Of 62 patients hospitalized in a neurological ward during a period of 4.5 years, 56 patients suffered from sudden disorders of the nervous system (strokes and craniocerebral injuries) and 6 patients had gradually progressing neurological diseases (ALS, multiple sclerosis, Parkinson's disease, dementia, and polyneuropathy).
Dysphagia is frequently encountered in patients with acute affections of the nervous system (cerebrovascular attacks, craniocerebral injuries) and in chronic nervous diseases (amyotrophic lateral sclerosis, Parkinson s disease, dementia). To these patients enteral nutrition must be administered. If the perspective of dysphagia is short (several days) then nutrition by a nasogastric tube is fully indicated and sufficient. In cases of more prolonged dysphagia and in patients with a long perspective of dysphagia percutaneous endoscopic gastrostomy (PEG) is indicated. Both these methods of enteral nutrition have their advantages and disadvantages which are manifested in different ways in patients with disorders of the nervous system. The authors compared 62 patients hospitalized in the course of 4.5 years at the neurological department who had PEG with 72 patients who had nasogastric tubes and were hospitalized at the neurological intensive care unit in the course of one year. The authors evaluated the different indications for application, the incidence of complications and the advantages and disadvantages of the two methods.
The complete dystrophin mRNA sequence has been analyzed in 20 Duchenne muscular dystrophy and Becker muscular dystrophy patients. In 13 cases, deletions in mRNA were detected using reverse transcription-polymerase chain reaction and in another seven cases, point mutations were found using the protein truncation test. Sixteen patients diagnosed with Duchenne muscular dystrophy showed the presence of deletions or of nonsense point mutations. From four patients with the Becker muscular dystrophy phenotype, three cases were associated with deletions conserving the translational frame and one was associated with a nonsense mutation E1110X. In the case of the E1110X mutation, an alternative splicing of dystrophin mRNA (3485-3640del) was detected in this patient which included the E1110X mutation site (nucleotide 3536) and did not change the translation reading frame. Individual nonsense point mutations were characterized by sequence analysis, which showed five novel mutations with respect to those reported in the Cardiff Human Gene Mutation Database http://uwcm.web.cf.ac.uk/uwcm/mg/hgmd0.html and the Leiden muscular dystrophy pages http://www.dmd.nl/.
The article deals with the history of foundation and beginnings of the Institute of Physiology of the Medical Faculty of Comenius University in Bratislava. In the school year 1924/25, after the Czechoslovak state university had been founded, the Physiological Institute began its work. The first director was prof. MUDr. Antonín Hanák. Under his leadership the basis of pedagogical and scientific activities in the Institute was established. In the school year 1926/27, Institute moved into the newly built rooms in Sasinková street No 2, where it has been located ever since. Professor Hanák had been working in Bratislava since 1924 till 1930. After his walk-off to Praha, professor MUDr. Vilém Hons became the head of the Institute. In the school year 1936/37 he was elected the dean of the Medical Faculty of Comenius University. He worked in Bratislava till 1939, when he was suspended from the service in the Slovak schools. Both Czech professors founded firm basis of physiology as a subject matter and as a scientific discipline in Slovakia.
Complex diagnosis of muscular dystrophies including clinical, bioptical and molecular genetic approaches has been provided in a limited extent in this country. Our group of neurologists, pathologists and geneticists has examined approximately 240 patients suspected of having muscular dystrophies, mostly coming from Southern and Northern Moravia. The patients were sent to the examination most often from departments of neurology and clinical genetics, and less frequently from departments of internal medicine. According to the final diagnosis, the patients were divided into groups: with dystrophinopathies and carriers of dystrophinopathies (DMD/BMD), merosin deficient form of congenital muscular dystrophy, and Emery-Dreifuss muscular dystrophy including the carriers of this disease. Some relatives of patients with dystrophinopathies were also examined using the methods of segregation analysis. High proportion of the DMD/BMD patients can be detected by the methods of molecular genetics. Analysis of mRNA using RT PCR and PTT enables the detection of deletions, duplications, and point mutations in dystrophin gene and encompasses a larger diagnostic scope in comparison with examinations of DNA level by the multiplex PCR method from the peripheral blood which enables only deletion detections. Immunophenotyping of the dystrophin protein plays an important role especially using antibodies against carboxyterminal (DYS2) and rod domain (DYS1) of dystrophin. Deficient sarcolemmal expression of DYS2 and DYS1 reveals unambiguously a pathological dystrophin. On the other hand, less pronounced deficiencies in dystrophin expression in BMD patients and DMD/BMD carriers may not always be detected in muscle biopsies. In this case, it is necessary to supplement the examination by Western blotting and genotype analysis. The examination of patients with clinically diagnosed muscular dystrophy should start with a muscle biopsy which enables the estimation of presence and degree of structural changes. Application of antibodies against the components of DGC and emerin may reveal a deficiency in expression of these proteins. Immunohistochemical examination completed by Western blotting leads to the subsequent molecular genetic analysis of DNA or mRNA. Secondary deficiencies in expression of other DGC proteins are often revealed in muscle biopsies of dystrophinopathies and this fact must be taken into account in the evaluation of immunohistochemical findings. There is a possibility of replacement of invasive muscle biopsy by skin biopsy or buccal mucosal smears in cases of merosin and emerin deficiencies. Commercially available antibodies against merosin, emerin, calpain and sarcoglycans enable extensive identification and detailed classification of muscular dystrophies. Screening of the patients based on the application of methods described and discussed in this report is the task of the forthcoming period.
OBJECTIVE OF STUDY: The objective of the study is to determine the optimum diagnostics of vaginal yeast infections and to compare the effects of treatment of these infections by Natamycin with those by Clotrimazol. TYPE OF STUDY: Prospective comparison of both option of treatment of vaginal infections. NAME AND PLACE OF RESEARCH: Obstetrics and gynaecology department, Brno-Bohunice. METHODS: 30 patients treated with hydrophobe Natamycin and 20 patients treated with hydrophyll Clotrimazol formed a sample of 50 women. Regular checks were made on the 10th and 30th day after the beginning of treatment. Diagnosis was performed by means of native microscopy supplemented by an examination for cultivated yeasts in the culture medium "FUNGI-QUICK". At the same time a microscopic examination of slides stained by Gram and Giems was made. RESULTS: A correlation between the evaluated native slide and the culture examined thereafter was 96%. Statistical evaluation of the difference of the rate of success of treatment between the two groups by means of the t-test revealed a value of 0.29, the level of probability was 0.05 at N1 = 0.1795 and N2 = 0.2179. CONCLUSION: Native microscopy is irreplaceable in the diagnosis of vaginal candidosis. No significant differences in the effects of treatment with Natamycin and Clotrimazol were found. On the basis of these results we made some recommendations on the principles of optimum treatment.
Forty Duchenne muscular dystrophy patients from the province of Moravia in the Czech Republic, who were previously found negative for large deletions in the dystrophin gene, were tested for the presence of point mutations in selected exons. Besides several intron and exon polymorphisms, two cases of nonsense mutations were detected in exon 70, thus causing the loss of the C-terminal domain of dystrophin. One of these, the mutation, S3365X, is newly reported here while the other, R3381X, has been described previously. These mutations, only 16 bp distant from each other, have a very different impact on the mental abilities of the corresponding patients.
Dystrophin is a cytoskeletal protein, defects of which results in Duchenne or Becker muscular dystrophy (DMD or BMD). About 70% of all DMD and BMD cases is caused by large deletions and duplications in the dystrophin gene. Therefore, their detection at the DNA and mRNA level is the analysis of the first choice which is undergone by our patients at the molecular level. Methods which have been introduced in our laboratory for this purpose-multiplex PCR and RT-PCR-are subject of this communication.
Twenty two Duchenne muscular dystrophy (DMD) patients from the province of Moravia, Czech Republic, were tested for the presence of dystrophin gene rearrangements using multiplex polymerase chain reaction (PCR). Using primer pairs for amplification of two promoter regions and 27 exons, 11 patients were found positive for deletions spanning one or more exons. In all these cases, the deletions affected the distal part of the dystrophin gene, beginning from exon 44 but not reaching exon 60.
The physiological control system of the heart produces a highly complex pattern of cardiac rhythmicity which is reflected in the variability of heart rate. The aim of this study was to analyse the effects of posture and breathing frequency on the cardiac control system by various noninvasive techniques. Seven healthy subjects (24+/-5 years, mean age+/-S.D.) were studied in the supine and sitting positions while breathing spontaneously or at a fixed rate (3, 6, 12, 24, 48, 60 breaths.min(-1)). Time series of instantaneous beat-to-beat heart rates were evaluated by spectral analysis and by the dimensionless approximate entropy parameter. The total spectral power as well as the low (<0.05 Hz) and mid frequency (0.05-0.12 Hz) spectral components were higher in the sitting position. Mean approximate entropy (+/-S.D.) (0.85+/-0.15 in sitting and 0.87+/-0.16 in lying subjects) was unaffected by postural changes or breathing frequencies higher than 6 breaths x min(-1). Analysis in the frequency domain revealed that the activity of the autonomic components controlling heart rate was modified by ventilation and postural changes, whereas approximate entropy, a unique measure of the complexity and integrity of the cardiac control system, was almost unaffected by respiration and posture.
The indication of bisphosphonates in hypercalcemia is fully accepted, the long term therapy with bisphosphonates is still controversial. The aim of our study was to evaluate the influence of clodronate on the bone density of myeloma patients. Twenty patients were included in the study. Clodronate is administered in the total dose of 3,000 mg, which is delivered in 4-6 hour infusions, 600 mg/day, once in tree 3 months. The effect of clodronate on bone density is evaluated by CT-densitometry in a period of 6 months. At the beginning of May 1994, 15 patients had completed at least two estimations of bone density. The amount of hydroxyapatite in these six months increased in 9 patients, in one of them there was no change and in 4 of them decreasing bone density was detected. The mean bone density before the administration of clodronate was -2.6 SD (standard deviation of European standard of bone density for age and sex). After 6 months of therapy the bone density increased to -2.3 SD. The mean amount of hydroxyapatite in spongiosa was raised from the mean value 32.71 mg/ml before clodronate administration to 38.91 mg/ml after the 6 month treatment period. The mean increase in calciumhydroxyapatite in trabecular bone mass was 6.2 mg. Clodronate contributed to the amelioration of bone pain in the majority of patients, but this effect is difficult to evaluate because of other treatment modalities administered concomitantly. The tolerance of clodronate was good. No impairments of renal function or other adverse effects were observed. Only in 2 patients the decrease in calcium concentration caused slight tetania. Therefore close monitoring of the calcium level is recommended and in the case of its decrease below the physiological level peroral substitution of calcium was started.
Immunohistochemical method detecting dystrophin in muscle biopsies was introduced and applied in 121 cases with a large scale of neuromuscular diseases. A monoclonal antibody NCL-DYS 2 (Novocastra) was used for the detection of C-terminal domain of dystrophin. Normal, i.e. sarcolemmal, localization of dystrophin was found in controls, in inactivity atrophy, neurogenic lesions and congenital myopathies. A similar situation except regenerating fibres was found in myositis and progressive muscular dystrophies different from Duchenne (DMD) and Becker (BMD) types, DMD cases showed a complete or nearly complete loss of sarcolemmal reaction product, whereas a partial loss of dystrophin in membrane was found in BMD cases as well as in transmitter females. Fibres splitting during neurogenic and myogenic lesions had dystrophin in newly produced sarcolemmal parts. Sarcolemmal immunoreactivity starting as early as in the 10th-12th week of gestation was found in human fetuses.
Urological complications of colorectal cancer during surgery of the large bowel are relatively frequent. Fortunately these complications are as a rule transient and recede either spontaneously or after a suitably selected therapeutic procedure. Permanent complications account in our group comprising 311 patients only for a fraction of a per cent. The problem of carcinoma of the colon and rectum and treatment, along with possible complications, is becoming increasingly important in particular in conjunction with an objectively assessed shift of the prevalence of the disease to younger age groups. The group of patients treated in the authors' department on account of colorectal carcinoma during the last five years was evaluated in detail and thus it was possible to detect why different complications developed. This evaluation of all recorded cases was made from the diagnostic aspect as well as with regard to therapeutic possibilities, taking into account the technique of surgical approaches.
Recently in the literature occasional reports were published on the use of computed tomography (CT) in the diagnosis of neuromuscular diseases. The authors compared in a group of 23 children aged 3 to 15 years the results of clinical, laboratory, electromyographic, bioptic and CT findings on muscles. Only in four children the result of CT did not correlate with the clinical finding because of the incipient stage of the disease with structural changes which were yet only slightly expressed. Consistent with data in the literature it was possible from the CT to differentiate primary myopathies from neurogenic ones. The objective of the work was to prove the assets of the new method in the diagnosis of neuromuscular diseases, in particular in young children who do not cooperate during routine EMG examinations. There CT is an important guide for selective EMG and in particular for aimed bioptic studies which still hold priority in the specification of the disease. In already diagnosed and treated patients it is possible to investigate by means of CT the course of the disease by a non-invasive approach.
In the history of the Medical Faculty of the Comenius University in Bratislava there are two personalities with great merits as regards the foundation and development of the Physiology department, both pupils of professor Mares--prof. MUDr. A. Hanák and prof. MUDr. V. Hons. Professor Hons to whom this article is devoted worked in Bratislava from 1930 to 1939. He influenced in an important way the development of the Institute of Physiology in the second decade of its existence and made significant advances in the field of teaching and research. As dean of the medical faculty in 1936-37 and assistant dean in 1937-38 he helped the Faculty to resolve some complicated problems; he opposed the pressure of the undemocratic forces and established and reinforced his relations with students in particular their most important organization--The Society of Czechoslovak Medical Students.