[DNA diagnosis in families with autosomal dominant hereditary polycystic kidney disease].

J Kapras, J Stekrová, J Zidovská, A Horínek, I Mazura, M Merta, R Brdicka

Vnitr Lek 1993, 39(10):942-945

In 1990-1992 110 patients with polycystic kidney disease adult type (ADPKD) were contacted. Forty-nine families were examined by Southern's RFLP method (standard probe 3'HVR and Pvu II restrictase). Of 424 members of these families only 25 (5.9%) refused the examination. So far 337 examinations were completed, 62 are under way. In 32 cases of 109 subjects at risk of 50% ADPKD the affection was proved with a probability higher than 95%, in 77 subjects (and 6 subjects with a 25% risk) were eliminated with an equal probability. In two families successful prenatal examinations of the foetus were accomplished. Evaluation of attitudes to DNA diagnostics...

[Familial hypercholesterolemia from the aspect of DNA analysis].

A Horínek, J Sobra, R Ceska, P Paulasová

Vnitr Lek 1993, 39(10):946-950

The authors summarize their first experiences with DNA analysis of defective low density lipoprotein receptor (LDLR) gene of the familial hypercholesterolemia heterozygotes that were selected from the III. Medical Clinic of the 1st Medical Faculty in Prague patients group. First genotype studies of unrelated FH individuals were performed by restriction fragment length polymorphism (RFLP) method. Relative allele frequencies of PvuII (0.69) and StuI (0.91) restriction enzymes agree with the world literature datas, in the ApaLI (0.69) case the higher value may be caused by, for the present, small number of analyzed patients. Possibilities of DNA analysis...

[Linkage analysis in pedigrees with Alzheimer's dementia].

I Mazura, R Jirák, F Koukolík

Vnitr Lek 1993, 39(10):951-953

Linkage analysis with three specific DNA markers was carried out on the Alzheimer's dementia pedigrees. The DNA markers used in our study, D21S1/D21S11, D21S13 and D21S16 in the 21q11.2-21q21 regions are localized. The results from different brain DNA samples and from peripheral blood samples of AD families were evaluated by two-point linkage analysis. The linkage between DNA markers and one AD pedigree was observed (D21S1/S11 and D21S13).

[Identification of HLA-D allele regions using DNA analysis].

M Loudová, R Brdicka, M Láblerová, P Korínková, P Iványi

Vnitr Lek 1993, 39(10):954-958

The successful bone marrow transplantation presents the highest demands on the compatibility between donor and recipient in the antigen products of HLA system, namely in transplantations performed in unrelated individuals. Traditionally used serotyping gives rather exact results in class I HLA antigen determination, but when typing of class II antigens, at least 25% errors occur. Our papers presents a comparison of different molecular genetics methods used in class II HLA antigen typing. First results of class II HLA typing using RFLP technique, as performed in the Institute of Hematology and Blood Transfusion, are summarized.

[Polymorphisms in the pseudoautosomal regions of X and Y in DNA diagnosis].

Z Sieglová, M Mrug, M Láblerová, M C Wapenaar, J Weissenbach, R Brdicka

Vnitr Lek 1993, 39(10):959-963

New findings on the pseudoautosomal area of X and Y chromosomes potentiate the importance of this part of the human genome for direct and indirect DNA diagnosis. The submitted paper is focused on the characteristic features of the given area with special emphasis on loci used in the Institute of Haematology and Blood Transfusion during DNA monitoring of patients after allogeneic transplantation of bone marrow and which thus provide important information with a major clinical impact. The authors indicate trends of future research focused on investigation of the polymorphism of the receptor of the haematopoietic factor GM CSF in relation to its function...

[BCR and ABL gene rearrangement in chronic myeloid leukemia].

B Rypácková, C Haskovec, R Brdicka

Vnitr Lek 1993, 39(10):964-968

The fact of chromosome 9 and 22 translocation connected with the fusion of BCR and ABL genes occurring in 95% patients with chronic myeloid leukemia (CML) enables us to use molecular biology methods in CML diagnosis. By means of these methods we also can prove the rearrangement of BCR gene in some cytogenetically negative cases that are without so called Philadelphia (Ph) chromosome. 51 patients with myeloproliferative disease have been tested by Southern technique during the last year. The rearrangement of BCR gene was detected in 28 patients, in 13 of 14 patients where the Ph chromosome and also in 3 of 13 patients where the Ph chromosome was not...

[Molecular-genetic characteristics of alpha, beta and delta beta-thalassemias in 139 heterozygotes in 56 unrelated Czech and Slovak families (Priority description of 3 beta-thalassemia mutations, an extensive alpha-thalassemia 2 (18+ kb) deletion and a Swiss-type nondeletion hereditary persistence of hemoglobin F)].

K Indrák, V Divoký, V Brabec, J Indráková, M Svobodová, T H Huisman

Vnitr Lek 1993, 39(10):969-978

In 135 subjects from 54 unrelated families of Czech and Slovak families the authors identified 11 different beta-thalassaemic alleles. In 25 families they proved a IVS I-1 (G-A) mutation. Another 4 "mediterranean" mutations: IVS II-1 (G-A), IVS II-745 (C-G); IVS I-110 (G-A) and mutations in the codon 39 (C-T) were found in 18 families. Mutation IVS I-5 (G-C) found in one family is common in Asia. A frameshift at codons 82/83(-G) found in two families, was described previously only by Schwartz in one families from Azerbaijan. A rare mutation in codon 121 (C-T) is usually characterized as beta-thal. with formation of Heinz bodies. The latter were however...

[Lipoprotein (a): a genetic risk factor for early ischemic cerebrovascular stroke].

H Vaverková, D Novotný, L Ficker, I Vlachová, J Chudácková

Vnitr Lek 1993, 39(10):979-987

In 45 subjects after a cerebrovascular attack (age less than 55 years) and their first degree relatives -45 siblings, 60 children, 9 parents and 31 partners--lipoprotein (a) levels by the ELISA method as well as some other lipids, lipoproteins and apoproteins were assessed and compared with two control groups (I and II) of healthy subjects with a negative family history of early atherosclerosis. The lipoprotein (a) levels were significantly higher not only in probands, as compared with the control group I (27.4 +/- 30.7 x 16.0 +/- 18.9; p < 0.05, Mann Whitney U-test) but also in their children when compared with control group II (28.1 +/- 31.9 x...

[Immunogenetics and immunologic aspects of kidney and bone marrow transplantation].

M Buc

Vnitr Lek 1993, 39(10):988-994

Progress in comprehension of the immunogenetics of the HLA-complex and the discovery of new very potent immunosuppressive agents have enabled organ and tissue transplantations to be performed as a relatively routine therapeutic method. Long-term outcome measured as a half-life in kidney transplantations is 25 years among HLA-identical siblings, 12 years in one haplotype-mismatched paternal donors, and 7 years in cadaver transplantation program. The long-term outcome in the latter group can be markedly improved--to as much as 19 years--when six-antigen program is observed (i.e. donor and recipient are identical in HLA-DR, -B, and -A antigens). The survival...

[Chronic fatigue syndrome].

T Fucíková, J Petanová

Vnitr Lek 1993, 39(10):995-100

The authors followed up for a period of 1-14 years 52 patients with CFS who met the criteria outlined by Holmes. The group comprised 10 men and 42 women. In 15% of these patients after a mean period of 5.5 years thyroiditis was diagnosed. Complete recovery was recorded in 20%, improvement in 32% of the patients, on average after 7 years. In the course of treatment mainly immunomodulating preparations were used. Indication of these drugs was individual based on immunological examinations. The success was only partial. The clinical condition of the patients did not correlate with serological findings of IgM, IgA and IgG antibodies against VCA nor with...

[Atrial natriuretic factor as a marker of clinical severity in cardiac failure].

I Suchmanová-Lazúrová, R Rybár, I Majercák, G Valocík, E Fedorová, Y Machánová, R Tkácová, D Trejbal

Vnitr Lek 1993, 39(10):1003-1007

The authors examined plasma levels of the atrial natriuretic factor (ANF) in 26 patients with manifestations of cardiac failure. The ANF levels were high as compared with reference values (21 +/- 16.7 fmol/ml vs. 4.9 +/- 2.1 fmol/ml) and different in relation to individual functional NYHA classes, i.e. the lowest ones were in the second and the highest ones in the fourth class. Concurrently the authors revealed a statistically significant negative exponential correlation between plasma ANF levels and the left ventricular ejection fraction (r = 0.550, p < 0.01) and a bordeline correlation between ANF and the stroke volume (r = -0.45, p = 0.05). The...

[New findings on the immunologic diagnosis of systemic lupus erythematosus].

J Rovenský, L Cebecauer, L Rauová, V Lackovic, F Mális

Vnitr Lek 1993, 39(10):1008-1012

The authors review recent findings pertaining to the pathogenesis of systemic lupus erythematosus. It was revealed that knowledge of impaired humoral and cellular immunity is of great practical importance and substantially improves the prognosis of the disease.

[Damage caused by monoclonal immunoglobulins and possibilities of therapy. 2].

Z Adam

Vnitr Lek 1993, 39(10):1013-1021

Monoclonal immunoglobulins (M-Ig) cause due to their chemical structure and physical properties some pathological manifestations. In the text all skin changes are analyzed which are supposed to be associated with M-Ig. Some light chains form amyloid masses which can damage almost all organs. M-Ig can perhaps enhance also the capillary permeability although their role in the capillary leak syndrome remains obscure.

[The Saint Vincent Declaration--a call for increased care of diabetics.VI].

J Rybka

Vnitr Lek 1993, 39(10):1028-1031

[The Saint Vincent Declaration and the Budapest invitation. VII].

J Rybka

Vnitr Lek 1993, 39(10):1032-1036