Thalamic diffusion differences related to cognitive function in white matter lesions

Cerebral white matter lesions (WMLs) are related to cognitive deficits, probably due to a disruption of frontal–subcortical circuits. We explored thalamic diffusion differences related to white matter lesions (WMLs) and their association with cognitive function in middle-aged individuals. Ninety-six participants from the Barcelona-AsIA Neuropsychology Study were included. Participants were classified into groups based on low grade and high grade of periventricular hyperintensities (PVHs) and deep white matter hyperintensities (DWMHs). Tract-Based Spatial Statistics was used to study thalamic diffusion differences between groups. Mean fractional anisotropy (FA) values in significant areas were calculated for each subject and correlated with cognitive performance. Participants with high-grade PVHs and DWMHs showed lower FA thalamic values compared to those with low-grade PVHs and DWMHs, respectively. Decreased FA thalamic values in high-grade DWMHs, but not high-grade PVH, were related to lower levels of performance in psychomotor speed, verbal fluency, and visuospatial skills. Thalamic diffusion differences are related to lower cognitive function only in participants with high-grade DWMHs. These results support the hypothesis that fronto–subcortical disruption is associated with cognitive function only in DWMHs.     

Women, family demands and health: the importance of employment status and socio-economic position

Although it is generally assumed that women engaged in paid work have better health than full-time homemakers, little is known about the situation in Southern European countries like Spain or about differences in the impact of family demands by employment status or the potential interaction with educational level. The objectives of this study are to analyse whether inequalities in health exist among housewives and employed women, and to assess whether the relationship between family demands and health differs by employment status. Additionally, for both objectives we examine the potential different patterns by educational level. The data have been taken from the 1994 Catalonian Health Survey (Spain). The sample was drawn from all women aged 25-64 years who were employed or full-time homemakers and married or cohabiting. Four health indicators (self-perceived health status, limiting long-standing illness, chronic conditions and mental health) and two health related behaviours (hours of sleeping and leisure-time physical activity) were analysed. Family demands were measured through household size, living with children under 15 and living with elderly. Overall, female workers had a better health status than housewives, although this pattern was more consistent for women of low educational level. Conversely, the health related behaviours analysed were less favourable for workers, mainly for those of low educational level. Among workers of low educational level, family demands showed a negative effect in most health indicators and health related behaviours, but had little or no negative association at all in workers of high educational level or in full-time homemakers. Moreover, among women of low educational level, both workers and housewives, living with elderly had showed a negative association with poor health status and health related behaviours. These results emphasise the need of considering the interaction between family demands, employment status and educational level in analysing the impact of family demands on women's health as well as in designing family policies and programmes of women's health promotion.     

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa

PURPOSE: Mutations in the systemically expressed pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 have recently been associated with autosomal dominant retinitis pigmentosa (adRP). This study was intended to identify mutations in PRPF3, PRPF8, and PRPF31 in 150 Spanish families affected by adRP, to measure the contribution of mutations in these genes to adRP in that population, and to correlate RP phenotype expression with mutations in pre-mRNA splicing-factor genes. METHODS: Denaturing gradient gel electrophoresis (DGGE) and direct genomic sequencing were used to evaluate the complete coding region and flanking intronic sequences of the PRPF31 gene, exon 42 of PRPF8, and exon 11 of PRPF3 for mutations in 150 unrelated index patients with adRP. Ophthalmic and electrophysiological examination of patients with RP and their relatives was performed according to preexisting protocols. RESULTS: Three nonsense mutations caused by insertion and deletion sequences and two missense mutations (Arg2310Gly) and within the stop codon of the PRPF8 gene (TGA-->TTG), were detected in five unrelated heterozygous patients. Three patients were heterozygous carriers of different nonsense mutations in exon 8 of the PRPF31, gene and one Thr494Met mutation was found in exon 11 of the PRPF3 gene. Cosegregation of the mutation in PRPF8 and PRPF3 with adRP was observed. However, two nonsense mutations in PRPF31 causing adRP detected in two families showed asymptomatic carriers. CONCLUSIONS: Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population. Their contribution to adRP is approximately 5% after correction in relation to mutations found in other genes causing adRP. The patients carrying a mutation in the pre-mRNA splicing-factor PRPF8 gene showed a type 1 diffuse RP. The existence of asymptomatic carriers of the nonsense mutation in the PRPF31 gene suggests incomplete penetrance for these mutations in the families.     

Unconventional therapy in multiple sclerosis

BACKGROUND: The use of unconventional therapies is growing in western countries. Few studies on their frequency and rationale among multiple sclerosis (MS) patients have been carried out in Europe. OBJECTIVE: To assess the frequency of use of unconventional therapies among MS patients and to explore associated clinical variables. METHODS: Structured questionnaires were given to 380 consecutive patients seen at two hospital-based MS clinics in Barcelona. Clinical and demographical data were recorded at the same time. The questionnaire inquired about demographical features, education, income, use of unconventional therapies for MS and satisfaction with conventional medicine both in general and specifically in MS. RESULTS: The response rate was 50.78%. Forty-one per cent of patients admitted using unconventional therapies during the previous year. Low levels of satisfaction with conventional medicine in general and for MS, and higher Expanded Disability Status Scale (EDSS) scores (EDSS mean: 4.43 in users versus 3.48 in nonusers) were significantly associated with use of unconventional therapies. CONCLUSION: Use of unconventional therapies is not rare among MS patients, and it is associated with high disability levels and dissatisfaction with conventional medicine.