Patchy myocardial pattern of virus sequence persistence in heart transplant recipients--possible role of sampling error in the etiology.

BACKGROUND: The pathway from viral myocarditis to end-stage heart failure is commonly accepted, but diagnosis of virus-mediated myocardial injury remains challenging. Virus persistency in the myocardium may accelerate ventricular failure; thus, a precise diagnosis of virus persistency may prevent the development of end-stage heart failure. METHODS: We performed a systematic investigation on the sampling error of viral diagnostics in heart transplant recipients: Transmural samples from 5 regions of the explanted hearts from recipients during heart transplantation were amplified using entero-, adeno-, and herpesvirus sequences and histologic examinations performed. RESULTS: We examined 175 myocardial samples from dilated cardiomyopathy and 100 samples from 20 forensic medicine patients. Seven patients were positive for the examined viruses: 10 positive regions for adenovirus, and 1 positive region for herpes virus DNA, but none for enterovirus. A focal myocardial pattern was detected for adenovirus. CONCLUSION: Our results with the patchy myocardial viral persistence may explain possible false-negative results related to virus-mediated etiology among end-stage dilated cardiomyopathy patients. Therefore, repeated endomyocardal biopsies, and multiple cardiac samples are recommended to be obtained to evaluate the etiology of heart failure, thus reducing the occurrence of end-stage heart failure and decreasing the number of patients requiring heart transplantation.

Towards a genetically validated new affective temperament scale: a delineation of the temperament phenotype of 5-HTTLPR using the TEMPS-A.

BACKGROUND: Although it has been described that affective temperaments are associated with the 5-HTTLPR, less attention was paid to the association between this polymorphism and subscales and items related to each affective temperament. The aim of our study was to investigate the association of affective temperament subscales and individual items with the s allele of the 5-HTTLPR. METHOD: 138 psychiatrically healthy women completed the TEMPS-A questionnaire and were genotyped for 5-HTTLPR. Scores of subjects on the temperament scales, subscales and items in the three genotype and the two phenotype groups were compared using ANOVA. We selected items with significantly different mean scores between the three genotype groups and the two phenotype groups separately and performed item analysis. RESULTS: Subjects in the different 5-HTTLPR genotype and phenotype groups have significantly different score on scales measuring depressive, cyclothymic, irritable and anxious temperaments, and several subscales composing these temperamental scales. Subjects in the three genotype groups scored significantly different on 11 items, 8 of these remained in a derived genotype scale after item analysis. Subjects in the two phenotype groups had significantly different scores on 12 items, 9 of them were retained in a derived phenotype scale after item analysis. LIMITATIONS: Our sample was relatively small and included only women. CONCLUSIONS: Our data provide support for the association of affective temperaments with the s allele. Although the cyclothymic temperament shows the strongest association, all temperaments within the depressive superfactor have a similar share in this association. The newly derived 5-HTTLPR Phenotype Scale shows strong association with 5-HTTLPR genotype and phenotype, therefore this scale should be further investigated in relation to psychiatric disorders, as well as psychological traits and temperaments.

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

BACKGROUND: Mutations in the type VII collagen gene (COL7A1) are responsible for dominant and recessive forms of dystrophic epidermolysis bullosa (DEB). These mutations are usually specific for individual families; only a few cases of recurring mutations have been identified. OBJECTIVES: Forty-three unrelated Hungarian and German patients with different DEB phenotypes were screened for novel and recurrent COL7A1 mutations. METHODS: All patients were classified based on clinical and genetic findings, skin immunofluorescent antigen mapping, and electron microscopic studies. Mutation analysis was performed by amplification of genomic DNA with polymerase chain reaction using COL7A1-specific primers, heteroduplex analysis, and direct nucleotide sequencing. Restriction endonuclease digestion was used for family screening and mutation verification. Results In this group of patients, the splice-site mutation 425A-->G was observed frequently, in 11 of 86 alleles (12.8%), once in homozygous form and in nine cases in heterozygous form. One of 100 control alleles from clinically unaffected individuals also carried the mutation. We also identified three novel mutations: the 976-3C-->A splice-site mutation, and the 4929delT and 8441-15del20 deletions. CONCLUSIONS: High recurrence of the splice-site mutation 425A-->G in central European patients with DEB should be taken into account when designing COL7A1 mutation detection strategies. Reporting of three novel COL7A1 mutations in this study further emphasizes the molecular heterogeneity of DEB and provides more information for studies on genotype-phenotype correlations in different DEB subtypes.

DNA profiling by detection of repetitive nucleotide sequences on human chromosome 6.

Genetic/genomic polymorphism, i.e. variations in DNA sequences are ideally assayed by direct nucleotide sequencing of a gene region or other homologous segment of the genome. An easier and cheaper approach, however, if the variants are analyzed by hybridization technology using restriction fragment length polymorphisms (RFLPs) or by detection of the number of tandem repeats (VNTR) of small DNA segments, the "minisatellites". In this study we describe results of the DNA analysis of repetitive sequences of human 6th chromosome by the application of a chemiluminescent labeled probes. The allele frequency distribution of polymorphic DNA sequences has been determined in unrelated individuals. The isolated genomic DNA was cut with Pst I restriction enzyme, size fractionated on agarose gel and hybridized with a chemiluminescent labeled D6 S132 probe. At this locus the Pst I cleaved DNA fragments are ranging from 1841 to 6098 base pairs (bp). Specific genetic pattern was characterized by more frequent fragments (3313 and 3884 bp), and the rarely occurring ones (clustered between 1841-2595 and 5227-6098 bp). Our study provides a further possibility for characterization of individual genomic patterns.

Frequency data for the STR locus ACTBP2 (SE33) in eight populations.

Allele frequency data for the STR system ACTBP2 (SE33) were determined in eight populations by denaturing polyacrylamide gel electrophoresis with automated laser-induced fluorescence detection. No significant deviations from Hardy-Weinberg equilibrium were observed. The power of discrimination and the mean exclusion chance ranged from 96.6% to 98.7% and from 76.3% to 88.9%, respectively. These forensic efficiency values stress the importance of ACTBP2 for individualisation purposes.

Automated fluorescent detection of a 10 loci multiplex for paternity testing.

The discovery of new highly efficient tetra repeat STR loci, development of fluorescence multicolour dye technology and capillary electrophoresis have made it possible to amplify ten loci in a single reaction. This combination provides an extraordinary effectiveness of simultaneous amplification and detection. With this method it became possible to determine individual identity and paternity at an enhanced level of precision and accuracy in 1 to 2 days with a high biostatistical probability. This review demonstrates the role of automated fluorescent multicolour dye genotyping technology in forensic paternity testing.

PCR typing of human semen stains after SEM-EDX examination.

There is an increasing demand to use scanning electron microscopy in the forensic analysis of biological samples. Such analyses are routinely used for the investigation of blood stains, seminal stains, diatoms, residues on wounds and residues and trace elements in gunshot powder. The same samples are sometimes also required for identification via DNA analysis, e.g. blood stains, seminal stains or epidermal cells. The ionising radiation provokes damage to DNA and also to membrane and protein structure. The question therefore arises whether the usual sequence of such an investigation, i.e. prior application of SEM and afterwards analysis of DNA, can affect the success rate of the DNA analysis. We have therefore experimentally exposed semen samples to a defined electron beam for different time intervals varying between 1 and 25 min and afterwards performed quantitative and qualitative DNA analysis. Our studies revealed that sample treatment with an electron beam does not interfere with subsequent DNA typing by various currently used forensic PCR systems.

Allele frequencies for the VNTR locus D17S5 (YNZ22) in Hungary.

A population genetic study for the locus D17S5 was carried out on Caucasoids from the Budapest area consisting of 209 unrelated individuals. In this system we identified 13 different alleles and 51 genotypes. No new alleles were found and no significant deviation from Hardy-Weinberg equilibrium was observed. The power of discrimination was estimated at 0.958, the power of exclusion at 0. 60 and the observed heterozygosity at 0.80.

[Paternity determination using the RFLP method in DNA probes]. / Apaságmegállapítás a DNS technológia (RFLP) alkalmazásának segítségével.

By the discovery of restriction fragment length polymorphism and hypervariable minisatellite sequences paternity testings have become possible with almost one hundred percent probability. The procedure is based on the improvement of DNA probes which can recognize the different regions of minisatellites in the whole site of human genome. These sequences are found in noncoding regions of DNA, in the so-called intrones, in areas between genes. The sequence motives have a discriminating power and provide a possibility to distinguish individuals.

Juvenile delinquency and drug dependence in Hungary.

It is regretable that the delinquency has increased in Hungary over the past 15 years. This fact occurred because criminality increased to a greater extent than average, and this means a steady supply of adult criminals. According to the surveys of the forensic psychiatrical records carried out over the 4 years between 1987-1990 in archival material of our Department, the criminological factors which occurred most frequently in juvenile delinquency among the 14-18-year-old age group are immature personality, endangered family background and inadequate school attendance. Thirty percent of criminal acts could be connected with alcoholism, 65% with theft, and 22% with aggressive delinquency. An important role in the increasing juvenile delinquency must be attributed to the crisis of the previous regime, including the faulty endeavours in child and youth protection and the inefficient school system. The decrease in living standards and the employment of women in work contributed to the loosening of family relations and the dereliction of children's education. The proportion of institutional young people among the perpetrators is high. Another factor with regard to the disadvantageous situation is the migration of young people to the towns from villages. Without the necessary conditions and with the poor company of friends, this presents an intensified criminological danger. Prevention is obviously of outstanding importance. The improvement of the economic situation, stability of families, substantial changes in school reform, the fight against alcoholism and the modern judicial regulation can be the means to achieve this goal.

[An unusual case of suicide caused by electric current]. / Ein besonderer Fall des Selbstmordes durch elektrischen Strom.

The authors describe a suicide case of a 37 year old master joiner caused by electricity. One wire was put around a neck and the other around the left wrist.