Acquired deafness: a multi-dimensional experience

The aim of this study was to investigate the subjective experience of acquired deafness using quantitative (questionnaire) and qualitative (interview) methods. This paper presents findings from the questionnaire data. Eighty-seven people (of whom 38 had acquired a profound loss) participated in the study. The questionnaire contained items designed to examine both audiological and non-audiological aspects of deafened people's experiences. It also sought to measure the extent to which those aspects affect their quality of life. The questionnaire included three variables (i.e. reported frequency and impact of depression, and overall effect of deafness on one's life) as broad indicators of adjustment. Seventy-three respondents (including all but one of the profound group) completed the questionnaire. Factor analysis of the questionnaire data identified six major themes (with variance > 10%) underlying the personal experience of acquired deafness. Three themes--communicative deprivation, restriction, and malinteraction by hearing people--dealt with observable aspects of respondents' experience. Multiple regression found that these factor themes associated with biomedical variables. The remaining three themes dealt with less tangible aspects of the deafness experience. These themes--feelings of distress in interaction, feelings of abandonment and benefit from positive experiences--did not associate with biomedical variables. Finally, multiple regression indicates that respondents' factor scores predict the impact of deafness at least as strongly as their audiological and social characteristics.     

PCR analysis of microsatellite DNA markers: possibility of erroneous determination of genotypes

A comparative study of two techniques for the PCR genotyping of highly polymorphic tandem repeats was carried out by the example of a triplet repeat in the myotonin protein kinase gene. Sequencing denaturing gels were shown to yield more precise results in the analysis of amplification products.     

Human T-cell receptor V beta gene polymorphism and multiple sclerosis

Population-based genetic associations have been reported between RFLPs detected with probes corresponding to the genes encoding the beta chain of the T-cell receptor for antigen (TCRB) and a variety of autoimmune disorders. In the case of multiple sclerosis (MS), these studies have localized a putative disease-associated gene to a region of approximately 110 kb in length, located within the TCRB locus. In the current study, all 14 known TCRBV (variable region) genes within the region of localization were mapped and identified. The nucleotide sequences of these genes were determined in a panel of six MS patients and six healthy controls, who were human-leukocyte antigen and TCRB-RFLP haplotype matched. Nine of the 14 TCRBV genes studied showed evidence of polymorphism. PCR-based assays for each of these polymorphic genes were developed, and allele and genotype frequencies were determined in a panel of DNA samples from 48 MS patients and 60 control individuals. No significant differences in allele, genotype, or phenotype frequencies were observed between the MS patients and controls for any of the 14 TCRBV-gene polymorphisms studied. In light of the extensive linkage disequilibrium across the region studied, the saturating numbers of polymorphisms examined, and the direct sequence analysis of all BV genes in the region, these results suggest that it is unlikely that germ-line polymorphism in the TCRBV locus makes a major contribution to MS susceptibility.(ABSTRACT TRUNCATED AT 250 WORDS)     

Focal transmantle dysplasia: a specific malformation of cortical development

We report 18 patients who presented prior to age 20 years with epilepsy or fixed neurologic deficits. MRI showed signal abnormality extending from the cortex to the superolateral wall of the lateral ventricle. Histology showed cortical disorganization, neuronal cytomegaly, balloon cells, indistinct cortical gray matter-white matter junctions, and variable accompanying astrogliosis. We propose that this transmantle dysplasia is a specific anomaly resulting from abnormal stem cell development.     

The characteristics of disorders of intracardiac hemodynamics and hemorheology in pulmonary heart failure

Overall ninety patients with chronic obstructive bronchitis presenting with signs of varying degree cardiopulmonary insufficiency (CPI) were evaluated by radionuclide ventriculography with technetium pertechnetate as well as by rotational viscosimetry of blood. The degree of hemorheological derangements tended to get higher with CPI severity (light, moderately severe, severe) being accompanied by progressing impairement of systolic and diastolic functions of both ventricles of the heart. Mechanisms of compensation of endocardiac hemodynamics were realized as a result of increase in end-diastolic and end-systolic volumes of both ventricles together with changes in amplitude and time characteristics of processes of ventricular ejection and filling. Forecast of the probable course of the condition may rely upon the functional state of right as well as left ventricle of the heart.