Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24

OBJECTIVE: To characterize a complex chromosome rearrangement (CCR) previously detected by G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X,+mar 1+mar2+mar3+mar4 in a patient with primary amenorrhea. DESIGN: Case report. SETTING: University faculty of Medicine and hospital. PATIENT(S): A 36-year-old woman with primary amenorrhea. INTERVENTION(S): Fluorescence in situ hybridization (FISH). MAIN OUTCOME MEASURE(S): Use of commercially available M-FISH probe (24 colors simultaneously) and whole chromosome painting probes for chromosomes 2, 11, 22, and X to characterize the CCR. RESULT(S): The use of conventional and multiple FISH allowed the redefinition of the CCR, showing a cryptic insertion of chromosome 11 in marker 3 previously suspected by M-FISH. The combination of G-banding and FISH data revealed that four chromosomes and seven breakpoints, including 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicated in this CCR. CONCLUSION(S): This report confirms the importance of a combination of G-banding and FISH (M-FISH and conventional FISH) techniques to characterize the de novo CCR. These techniques also were useful in defining two possible critical chromosome regions, Xp11.21 and Xq24, in which genes of potential interest for a primary amenorrhea could be located.     

Protective effects of exogenous fructose-1,6-biphosphate during small bowel transplantation in rats

BACKGROUND: We assessed the effect of adding exogenous fructose-1,6-biphosphate (F16BP) to the preservation solution (University of Wisconsin storage solution) used during an experimental procedure of small bowel transplantation in rats. METHODS: We studied levels of the nucleotides hypoxanthine/xanthine and adenosine in tissue after cold ischemia, as well as histologic changes and associated deleterious processes such as bacterial translocation produced by the reperfusion associated with the transplantation. RESULTS: The groups of rats treated with F16BP showed the lowest levels of hypoxanthine/xanthine and uric acid, the highest levels of adenosine, and the lowest levels of histologic damage and lactate dehydrogenase release to the bloodstream. Consumption of intestinal hypoxanthine during reperfusion was lowest in the groups treated with F16BP, as was the incidence of bacterial translocation. CONCLUSIONS: This study shows a protective effect of exogenous F16BP added to University of Wisconsin solution during experimental intestinal transplantation in rats. This protective effect, reflected by decreased intestinal damage and bacterial translocation, was related to a decrease in adenosine triphosphate depletion during cold ischemia before intestinal transplantation, and to the reduced availability of xanthine oxidase substrates for free radical generation during reperfusion.     

Medial temporal MR spectroscopy is related to memory performance in normal adolescent subjects

In addition to the study of pathological conditions, magnetic resonance spectroscopy can provide useful information about brain-behavior relationships in normal subjects. Recently, there have been reports of correlations between N-acetylaspartate (NAA) values and cognitive functions in normal adults. We tested the possible specific relationship between the NAA/choline (Cho) ratio in the medial temporal lobe and memory performance in normal adolescents. The medial temporal NAA/Cho ratio was unrelated to age, gender and general intelligence but presented a clear correlation with several memory measures. In the regression analysis two memory variables (RAVLT learning and a face-name recognition task) explained 55.6% of NAA/Cho variance. We conclude that NAA values in the medial temporal lobe are related to memory abilities but not to global intelligence in normal adolescent subjects.     

Impact of a clinical pathway for stroke patients

OBJECTIVE: To assess the impact of the implementation of a clinical pathway for stroke patients. METHODS: We performed a controlled intervention study without random allocation that compared two non-concomitant cohorts of stroke patients corresponding to the periods immediately before (control group) and after (intervention group) the implementation of a clinical pathway. The main outcome measures were: a) quality of care indicators; b) improvements in functional capacity (Barthel score) and neurological function (Canadian scale); c) nosocomial complications; d) satisfaction, and e) mean length of hospital stay. RESULTS: One hundred and thirty-nine patients were recruited. Sixty-nine corresponded to the period before implementation of the pathway and 70 corresponded to the period after implementation. There were no significant differences between the two groups on admission. A 36.5% reduction in the time from admission to mobilization was observed. No significant differences were observed between the groups for the other quality of care indicators, or in improvements in functional and neurological capacity. Nosocomial complications occurred in 44.5% of patients in the control group compared with 28.6% in the intervention group (p = .039). No significant differences were observed in the overall satisfaction assessment, but patients in the intervention group showed greater satisfaction in the dimensions of "information" and "trust and professionalism". The mean length of hospital stay was reduced from 11 to 10 days. CONCLUSIONS: The implementation of the stroke clinical pathway contributed to reducing the length of hospital stay and the number of inpatient complications, as well as to improving some quality of care indicators.     

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.     

Deprivation and AIDS in a southern European city: different patterns across transmission group

OBJECTIVE: To analyse deprivation and AIDS among three AIDS transmission groups (men who have sex with men--MSM, heterosexuals, and intravenous drug users--IDUs) in Barcelona, Spain, during the period 1990-95. METHODS: This is an ecological study, the unit of analysis being the neighbourhoods. Included were AIDS cases residents in Barcelona. The association among AIDS rate and deprivation was studied using Spearman correlation coefficients and Poisson regression. RESULTS: For MSM, inner city neighbourhood residence meant a greater risk of AIDS; but lower educational level was inversely related with AIDS rates. For heterosexuals, variables related with AIDS rates were younger age, inner city areas and social unrest for women, and extreme poverty for men. Among UDIs variables related with AIDS were unemployment and social unrest for both sexes. CONCLUSION: The association between AIDS rates and deprivation differs across transmission groups in a southern European city.