Biomedical subjects

J Fialová

Publications and source records attributed to J Fialová.

14 recordsLinked to original sources

PubMed2001

[Prenatal diagnosis of de novo complex balanced rearrangements in chromosomes 3,4, and 13] ].

A case of apparently balanced de novo complex chromosome rearrangement with three breaks found in foetus by amniotic fluid examination is described. Amniocentesis was indicated because of low AFP in maternal serum during the first pregnancy of 25-year-old healthy woman. Her family anamnesis as well as her husbands on was insignificant, chromosomes were normal. Fetal karyotype was 46,XY,t(3;13;4)(q26.2;q21.3;q12). To eliminate further cryptic aberrations the multicolor FISH technique was employed. The risk of serious inborn malformation in complex rearrangement with three breaks was estimated on the basis of literary data to be 10.5% (3.5% per each break). The couple decided to terminate the pregnancy. No distinct anomaly was found in the fetus. Only 12 prenatal diagnoses of the complex balanced chromosome rearrangements formed de novo can be found in the literature. Total risk of the serious malformation relating to that small group of described cases is rather high. Only substantial enlargement of the clinic may enable to use prenatal evaluation of each individual case according to the number of chromosomal breaks or according to other criteria with more accurate results.

Abnormalities, Multiple↗

PubMed1999

Alternative treatment of the carpal tunnel syndrome.

Carpal tunnel syndrome (CTS) is a painful disease of the wrist which is usually treated with corticoids locally or surgically. In this study combined infusion therapy with procain, pentoxyphyllin and magnesium sulphuricum in patients with CTS was evaluated retrospectively. 101 manually working patients (65 male, 36 female) aged 42.8 +/- 8.6 years, initially examined at our department to assess professional origin of the disease and who had abnormal conduction to the distal section of median nerve on electromyography (EMG), were entrolled. The group of patients was heterogenous etiologically. 41% of patients were found to be exposed to overlimit vibrations, while 21% of patients were exposed to overload of upper extremities and 16% patients to both the risks. The professional hazard was not proved in 23% of patients. In these patients 166 CTS were diagnosed of which 144 improved after the treatment, while the condition remained unchanged in 11 and even worsened in another 11 cases. Using the clinical and EMG criteria the findings were divided to mild, moderate and severe CTS. 77 mild CTS improved by 61% in average, 63 moderate CTS were improved by 47% and 26 of severe CTS improved by 50%. There was no association between the treatment outcome and sex, age or severity of symptoms. Patients with unfavourite outcome and the possible causes of treatment failure are discussed in detail.

Adult↗

PubMed1998

Trace elements in hemodialysis and continuous ambulatory peritoneal dialysis patients.

Alterations in blood and tissue concentrations of trace elements in patients with chronic renal failure have been extensively investigated. Selenium, zinc and copper are elements which play an important role in biological systems as components of proteins, enzymes and antioxidants. The concentrations of selenium, zinc and copper were determined in the plasma, erythrocytes and whole blood of patients on regular hemodialysis (HD) and continuous ambulatory peritoneal dialysis (CAPD) treatment using the method of inductively coupled plasma mass spectrometry (ICP-MS). Analysis of isotopes 77Se, 66Zn and 65Cu was performed. Methodology presents the major limitation to valid studies on trace element levels in biological materials. One of the widely used contemporary techniques is ICP-MS. It is the most sensitive one and has a high dynamic range. The selenium concentration in the studied compartments (plasma 46.1 +/- 3.0 vs. 78.0 +/- 3.4 microgram/l, p < 0.001; erythrocytes 90.4 +/- 6.5 vs. 134.2 +/- 7.6 microgram/l, p < 0.01; whole blood 67.3 +/- 3.1 vs. 106.4 +/- 3.4 microgram/l, p < 0.001) was significantly lower in HD patients compared to healthy controls. The same result was observed in plasma (63.2 +/- 5.8 vs. 78.0 +/- 3.4 microgram/l, p < 0.05) and whole blood (82.7 +/- 7.4 vs. 106.4 +/- 3.4 microgram/l, p < 0.01) from CAPD patients, but the selenium level of erythrocytes in CAPD patients was the same as in the control group (126.0 +/- 8.8 vs. 134. 2 +/- 7.6 microgram/l). The cooper content of erythrocytes was lower in HD patients than in controls (0.55 +/- 0.02 vs. 0.66 +/- 0.01 mg/l, p < 0.01) and CAPD groups (0.55 +/- 0.02 vs. 0.68 +/- 0.02 mg/l, p < 0.001). There were no differences in copper content in plasma (HD 1. 02 +/- 0.06; CAPD 1.11 +/- 0.09; controls 1.02 +/- 0.05 mg/l) and whole blood (HD 0.87 +/- 0.04; CAPD 0.90 +/- 0.05; controls 0.85 +/- 0.02 mg/l) in HD and CAPD patients and healthy controls. The zinc concentration was increased in the whole blood of CAPD patients (6. 68 +/- 0.36 vs. 5.52 +/- 0.11 mg/l, p < 0.001) and erythrocytes of HD (12.30 +/- 0.23 vs. 10.11 +/- 0.42 mg/l, p < 0.001), and CAPD groups (13.71 +/- 0.56 vs. 10.11 +/- 0.42 mg/l, p < 0.001) compared to controls. However, the plasma zinc concentration was lower in HD patients compared to blood donors (0.69 +/- 0.03 vs. 0.92 +/- 0.03 mg/l, p < 0.001) and CAPD patients (0.69 +/- 0.03 vs. 0.95 +/- 0.04 mg/l, p < 0.001). We did not find a significant increase in trace elements in whole blood after HD. These results suggest differences between plasma, erythrocytes and whole blood concentrations of the studied trace elements. The levels of trace elements are altered by HD and CAPD. A modern precise method with high accuracy, ICP-MS, which was used in our study, eliminated analytical errors and possible interferences.

Adult↗

PubMed1996

Lipid peroxidation and antioxidant enzymes in CAPD patients.

The mechanisms of free-radical injury include reactions with proteins, nucleic acids, and polysaccharides; and covalent binding to membrane components and initiation of lipid peroxidation. Cells have developed antioxidant defense to prevent free-radical injury including superoxide dismutase (SOD) and glutathione peroxidase (GPx). Significantly higher concentrations of total malondialdehyde (MDA) in plasma (1.22 +/- 0.42 vs. 0.64 +/- 0.22 micromol/L, p < 0.0001) as well as erythrocytes (2.56 +/- 1.28 vs. 1.03 +/- 0.44 micromol/L, p < 0.0001) of the CAPD patients were found when compared to the control group. The free MDA in plasma and the erythrocytes do not differ significantly in continuous ambulatory peritoneal dialysis (CAPD) patients and the control group. A significantly lower activity of GPx in erythrocytes of CAPD patients (17.85 +/- 2.63 U/g Hb vs. 23.26 +/- 3.61 U/g Hb, p < 0.0001) was found when compared to the control group, but the SOD activity in erythrocytes is not different (2272.36 +/- 579.92 U/g Hb vs. 2347.13 +/- 502.51 U/g Hg, NS). Our results show an increase of total MDA in erythrocytes and plasma. MDA is the product of lipid peroxidation with decreasing activity of GPx, which is capable of detoxifying peroxides. The activity of SOD did not change in CAPD patients. These results propose a possible role of free radicals with reduced antioxidant activity of GPx in CAPD patients and indicate that they could play some role in other pathological conditions such as atherogenesis and hemolysis.

Adult↗

PubMed1995

[Successful completion of pregnancy in a dialyzed patient].

The authors describe the first case of a successful pregnancy in the Czech Republic in a patient treated by continuous ambulatory peritoneal dialysis. The 22-year-old patient became pregnant ten months after the onset of treatment by peritoneal dialysis. During pregnancy deterioration of arterial hypertension occurred, deterioration of anaemia and from the 29th week onwards cholestasis gravidarum developed. The development of the foetus was within normal limits. Because of suspected preeclampsia the pregnancy was terminated during the 35th week by Caesarean section. The patient was delivered of a healthy eutrophic boy without any congenital abnormalities.

Adult↗

PubMed1995

Bone mineralization changes in saw operators.

In vibration disease the impact on bone and joint systems is considered to be the least frequent one. It includes a degenerative component, rare necrotic alteration and osteoporosis, together with cystic alterations, in the carpal bones. The authors concentrated only on osteoporosis in the proximal parts of upper extremities. They evaluated by X-rays of the thorax the extent of mineralization and, consequently, the osteoporosis of the clavicles. For that purpose they used the corticodiaphyseal Barnett-Nordin index (BNI). In a group of 107 chain saw operators whose both upper extremities had been exposed to the impact of vibration exceeding the threshold limit while operating a chain saw, a statistically significant difference was established in the mineralization of clavicles. These findings contrasted with a control group of 107 healthy males who had never worked with vibrating equipment. The authors did not establish a statistically significant dependence of these changes on simultaneously diagnosed traumatic vasoneurosis and neuropathy. After the risk elimination of vibration the value of the BNI indicates the dynamics and the reversibility of the parameter under observation. These findings suggest that osteoporosis due to the impact of vibrations is by no means a rare phenomenon. It does not affect only the distal parts of the upper extremities. Similarly as angiological and neurological changes, osteoporosis tends towards spontaneous adjustment, once the risk of vibrations has been eliminated.

Adult↗

PubMed1995

State of health in dental technicians with regard to vibration exposure and overload of upper extremities.

The authors examined 120 dental technicians, 111 women, 9 men, of mean age 44.8 years, mean duration of exposure 24.9 years. Cold water test, plethysmographic investigation, and EMG (in indicated persons), X-ray, neurological and orthopedic examinations were performed. Combination of exposure to vibration above the limit value, with overload of upper extremities, was proved by hygienic measurement. The most frequent subjective complaints included vertebral complaints (52.5%), paresthesiae in the hand fingers (47.4%) and pain in the joints of upper extremities (elbow 26.6%, shoulder 10.8%, wrist 6.6% and small joints of hand 6.6%). Four workers reported history of white fingers, but the cold water test did not prove it. Deteriorated plethysmographic curve was in 11 cases only. Pathological motor conduction in nervus medianus was found (by EMG investigation) in 13 persons. Carpal tunnel syndrome was acknowledged in 4 individuals as an occupational disease. The results of these investigations show the hazard of dental technicians work and the necessity of improvement of their work conditions.

Adult↗

PubMed1974