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Biomedical subjects

J Motán

Publications and source records attributed to J Motán.

18 recordsLinked to original sources
PubMed2006

Influence of endothelin-1 gene polymorphisms on the progression of autosomal dominant polycystic kidney disease.

BACKGROUND/AIM: A significant phenotypical variability is observed in autosomal dominant polycystic kidney disease (ADPKD). The variability cannot be fully explained by the genetic heterogeneity of the disease. Endothelin-1 (ET-1) has been suggested to be a major promoting factor in renal diseases. The role of the ET-1 gene locus (EDN1) in the renal function in the general nondiabetic population was evaluated. We examined the influence of three single-nucleotide polymorphisms of the ET-1 gene (EDN1)--K198N, 3A/4A, and T-1370G--on the progression of ADPKD towards end-stage renal disease (ESRD). METHODS: Two hundred and five ADPKD patients (113 males and 92 females) who had reached ESRD were analyzed. The patients were divided into three groups: (1) 48 patients (23 males and 25 females) with ESRD later than 63 years of age (slow progressors), (2) 74 patients (41 males and 33 females) with ESRD before 45 years of age (rapid progressors), and (3) 83 patients (49 males and 34 females) with ESRD between 45 and 63 years old. DNA samples from collected blood were genotyped for three single-nucleotide polymorphisms of EDN1: K198N, 3A/4A, and T-1370G. Haplotype analysis was also done in 200 healthy individuals. We compared the frequencies of the different genotypes between the groups of slow and rapid progressors and the ages at the time of ESRD regarding the EDN1 genotypes. RESULTS: The EDN1 genotype distribution showed no differences among the groups of slow progressors, rapid progressors, the ADPKD group with ESRD between 45 and 63 years old, and the control group. Comparing the ages of ESRD of all patients, we did not find significant differences with regard to the different genotypes. Furthermore, we compared the combinations of the different haplotypes and the ages at the time of ESRD. We found no differences in ages at the time of ESRD in patients with different haplotypes in the endothelin promoter (T-1370G) in combination with 3A/4A or K198N polymorphisms. Comparing the ages at the time of ESRD in patients with different 3A/4A and K198N haplotypes, we found a significantly lower age at the time of ESRD (47.1 +/- 8.7 years) in the carriers of the 4A allele in combination with the 198N allele (4A/4A, 3A/4A + 198KN,NN) than in the carriers of the 4A allele homozygous for the K198 allele (52.9 +/- 10.9 years; 4A/4A, 3A/4A + 198KK; t test: p < 0.01) and in the carriers of the 198N allele homozygous for the 3A allele (53 +/- 11.2 years; 3A/3A + 198KN,NN; t test: p < 0.05). CONCLUSIONS: We excluded an effect of K198N, 3A/4A, and T-1370G polymorphisms of EDN1 on the progression of ADPKD. However, a deleterious effect of the combination of 4A and 198N alleles of EDN1 was observed in APKDK individuals.

Aged↗
PubMed2005

[Malignancies in patients on dialysis].

Incidence of malignancies in patients on dialysis is higher than in the comparable population. The topic is discussed from different points of view: A. Malignancy as a cause of renal failure (renal and urinary tract tumors, von Hippel-Lindau disease, Wilms tumor, multiple myeloma, tumors that compress urinary tract). B. Treatment of malignancies may result in renal failure and dialysis (nephrectomy, tumor-lysis syndrome, postradiation fibrosis, direct toxic effect of chemotherapy). C. Dialyzed patients are in higher risk of malignancies, especially those of the kidney and urinary tract but also of pharynx and larynx, thyroid gland etc. The following factors may play some roles: the basic disease, (e.g. analgesic and Balcan nephropathies, China Herba nephropathy etc.), changed metabolic milieu with retention of carcinogens, deficiency of selenium and other substances, acquired renal cysts, compromised immunity, decreased "wash-effect" in oligo-anuria and possible influence of dialysis itself (contact with phtalates, ethylenoxide, nitrosamines etc.). D. Special problems in diagnostics of malignancies. Controversial validity of s.c. "tumor markers" is mentioned. Among the causes of death in dialyzed patients cardiovascular and infectious diseases predominate. The active search for renal and urinary tract tumors should be performed. All other diagnostic procedures depend on the individual patient's risk profile. E. Methods of renal substitution are used in the treatment of malignancies (e.g. dialysis in the tumor-lysis syndrome, plasma filtration to remove paraproteins, intraperitoneal administration of chemotherapy similar to peritoneal dialysis approach). F. Malignant tumors and dialysis--some ethical problems. Withdrawal of dialysis in severely suffering patients should be approved by an informed patient and followed by maximal palliative therapy including palliative ultrafiltration if threat of lung edema occurs.

Humans↗
PubMed2000

Influence of hemodialysis on selenium blood levels.

Selenium (Se) is considered an essential and very important trace element for humans. Blood Se levels in chronic hemodialysis (HD) patients are frequently reported to be lower than in controls. The aim of this study was to evaluate these lower Se blood levels with respect to the basic renal disease, duration of dialysis treatment, type of the membrane and dialysis solution used. We tried also to use the polynomial curve as a graphical method for rapid evaluation of a large number of Se blood levels. Se blood levels were measured before and after HD in 95 patients on chronic hemodialysis and in a control group of 20 healthy volunteers. Se blood levels were measured by atomic absorption spectrophotometry. Statistically significant increases of Se blood levels were found after HD (p < 0.001). During HD, the relatively high Se blood levels decreased and low levels increased but remained below the range of physiological values. These levels were lower than those of the control group (p < 0.001). Of the different dialysis membranes used, the greatest changes in Se blood levels were measured after HD with cuprophan membranes (p < 0.001). No significant difference in Se blood level in respect to the underlying kidney disease (chronic glomerulonephritis, tubulointerstitial nephritis, polycystic kidney disease, diabetic nephropathy) was revealed. No association of predialytic Se blood levels and the length of dialysis treatment was found. Concluding our results suggests low selenium content in dialysis solution and show that, in respect to the importance of Se for humans, its substitution is desirable.

Adult↗
PubMed1999

[Problems with trace elements in hemodialysis. Evaluation of serum levels].

BACKGROUND: During dialysis substances are eliminate in particular according to the concentration gradient between plasma and the dialysation solution. Evaluation of a suitable setting of the basic concentration of a substance in the dialysation solution from results of different patients is problematic because of possible individual distortion. The objective of the present work was to suggest and test a practical way of evaluation of group data. METHODS AND RESULTS: The authors examined a group of 87 dialyzed patients. Using the AAS method they assessed the serum concentrations of Mg, Zn and Cu always before and after dialysis. During dialysis of significant decline of serum Mg occurred (below 0.8 mmol/l). This drop would signalize the need to reduce the concentration gradient, i.e. increase the Mg concentration in the dialysation solution above the current 0.5 mmol/l. However assessment of Mg in red blood cells revealed that dialyzed patients have a significantly increased depot of Mg in the organism (2.67 mmol/l ery as compared with normal 2 mmol/l ery) and thus reduction of Mg in serum during dialysis is desirable. CONCLUSIONS: The authors suggested and on the basis of Mg tested a graphical way making rapid screening of extensive group data possible when evaluating the adequacy of the composition of the dialysation solution with regard to the concentration gradient of eliminated and retained substances resp. Evaluation of the concentration gradient from group data may be the baseline for optimalization of further individually set parameters of dialysis in individual patients.

Adult↗
PubMed1997

[Copper and the human body].

Copper is one of the essential trace elements. It is part of a number of enzymes. Deficiency of the element is manifested by impaired haematopoesis, bone metabolism, disorders of the digestive, cardiovascular and nervous system. Deficiency occurs in particular in patients suffering from malnutrition, malabsorption, great copper losses during administration of penicillamine. Sporadically copper intoxications are described (suicidal intentions or accidental ingestion of beverages with a high copper content). Acute exposure to copper containing dust is manifested by metal fume fever. Copper salts can produce local inflammations. Wilson's disease is associated with inborn impaired copper metabolism. In dialyzed patients possible contaminations of the dialyzate with copper must be foreseen as well as the possible release of copper from some dialyzation membranes. With the increasing amount of copper in the environment it is essential to monitor the contamination of the environment.

Copper↗
PubMed1997

[Aluminum and the human body].

Aluminium is one of the trace elements in the human organism the presence of which is described as contamination. The authors describe the toxic action in subjects working in an environment contaminated with powdered aluminium or its compounds. Non-professional exposure is observed in subjects with renal failure as aluminium is retained, in particular in case of concurrent antacid therapy on the basis of aluminium salts. Dialyzation encephalopathy may develop, aluminium osteopathy and microcytic anaemia. The most effective prevention is dialysis using a dialyzation solution with a low aluminium content and elimination of aluminium binding phosphates. The results of hitherto accomplished studies call for further research into the action of this element on the human organism.

Aluminum↗
PubMed1997

[General physicians at the beginning of health services transformation].

The authors assessed in 68 general practitioners by means of questionnaires selected data on the position in medical practice, satisfaction with it, on the extent, forms and opportunities of further training. All respondents systematically extended their education and training, 97% were keen to master and use new procedures. 37% were satisfied with their practice. They worked on average 50 hours per week and examined on average 236 patients per week in their surgery. On average they referred 11% of their patients to a specialist. Health authorities should participate more in the solution of some problems of general practitioners.

Attitude of Health Personnel↗
PubMed1992

[Hyperthyroidism in the inappropriate thyrotrophic hormone secretion syndrome].

The authors draw attention to the possible presence of hyperthyroidism associated with the syndrome of so-called partial (hypophyseal) resistance to thyroid hormones in the absence of a pituitary tumour, based on the experience assembled during the follow-up of a 35-year-old female patient. The syndrome is characterized by elevated T4, T3 and also TSH levels. The syndrome of partial resistance to thyroid hormones differs from that of generalized resistance by a non-familial incidence and the presence of mild hyperthyroidism; from a pituitary tumour with overproduction of TSH it differs by a positive TSH response to TRH stimulation and the ratio of alpha- and beta- sub-units of TSH and also by the absence of pathological changes on the sella turcica during graphic examinations. Treatment by common antithyroid drugs does not lead to clinical improvement nor to normalization of T4, T3 and TSH levels. The syndrome is rare and according to, so a reports in the literature, the views on its cause and methods of long-term treatment are not uniform.

Adult↗
PubMed1991

[Kinetics of metipranolol in patients with chronic kidney failure and during hemodialysis].

The authors investigated the metipranolol plasma concentration in seven patients with renal failure after a single dose of 20 mg of the preparation (2 tablets of Trimepranol) by the oral route during haemodialysis and on days without dialysis, and evaluated also the effect of dialysis on selected pharmacokinetic constants. Although there was a great individual variability of plasma concentrations of metipranolol, these concentrations were at the end of dialysis lower than during the corresponding interval between dialyses. The mean values of the area beneath the concentration curve, the velocity elimination constants, the half-life of elimination and total clearance indicate a certain dialysability of metipranolol. During the practical application of these conclusions it is, however, important to consider the effect on blood pressure and cardiac rhythm resp. by changes of volume and the composition of the extracellular fluid caused by haemodialysis.

Adult↗