A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain

Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption. This mutation appeared specific for Spanish Gypsies as it is not found in other Gypsy patients with FA from Hungary, Germany, Slovakia, and Ireland. Haplotype analysis showed that Spanish Gypsy patients all share the same haplotype. Our data thus suggest that the high incidence of FA among Spanish Gypsies is due to an ancestral founder mutation in FANCA that originated in Spain less than 600 years ago. The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer.     

Breast Density Analysis Using an Automatic Density Segmentation Algorithm

Breast density is a strong risk factor for breast cancer. In this paper, we present an automated approach for breast density segmentation in mammographic images based on a supervised pixel-based classification and using textural and morphological features. The objective of the paper is not only to show the feasibility of an automatic algorithm for breast density segmentation but also to prove its potential application to the study of breast density evolution in longitudinal studies. The database used here contains three complete screening examinations, acquired 2 years apart, of 130 different patients. The approach was validated by comparing manual expert annotations with automatically obtained estimations. Transversal analysis of the breast density analysis of craniocaudal (CC) and mediolateral oblique (MLO) views of both breasts acquired in the same study showed a correlation coefficient of ρ = 0.96 between the mammographic density percentage for left and right breasts, whereas a comparison of both mammographic views showed a correlation of ρ = 0.95. A longitudinal study of breast density confirmed the trend that dense tissue percentage decreases over time, although we noticed that the decrease in the ratio depends on the initial amount of breast density.     

Effects of the economic crisis and social support on health-related quality of life: first wave of a longitudinal study in Spain

Background

Economic recession affects quality of life by increasing rates of mental disorders in particular. Social support can be an important protective factor.

Aim

To estimate the impact of being personally affected by an economic crisis on health-related quality of life (HRQoL), taking into account the possible buffering effect of perceived social support.

Design and setting

Data from the first wave (March 2012 to November 2012) of the ‘Social Support and Quality of Life Study’, a longitudinal study carried out in a primary health care centre in a deprived neighbourhood of Barcelona, Spain.

Method

A total of 143 participants were assessed using the 12-item Short-Form Health Survey, the List of Threatening Experiences and the Duke Social Support scales. The effect of economic crisis on mental and physical HRQoL was assessed using ordinary least squares regression models to test the interaction between social support and having experienced an economic crisis.

Results

There was no statistical association between having suffered an economic crisis and physical HRQoL. The interaction between social support and economic crisis was also tested without finding any statistical association. An interaction was detected between social support and economic crisis in relation to mental HRQoL; those who had low levels of social support and had also experienced an economic crisis had the lowest levels of mental HRQoL.

Conclusion

Social support constitutes a safety net that offers protection against the adverse effect of economic recessions on mental health. Primary care professionals are in a key position to promote social activities and to strengthen social networks in the community.     

Is pre-operative anaemia a risk marker for in-hospital mortality and morbidity after valve replacement?

AIMS: To assess the level of pre-operative haemoglobin (HB) as a risk marker for morbidity and mortality in the early post-operative period of patients who underwent elective valve replacement. METHODS AND RESULTS: Between January 1998 and March 2004, clinical and outcomes data were collected for the 201 patients who had elective valve replacement. For each gender, the criterion to choose the best cut-off point was that which achieved the maximum likelihood after several General Additive Model models performed in a Bootstrap procedure. The best cut-off point obtained for pre-operative HB was 12 g/dL. Overall peri-operative mortality (deaths occurring during hospital period or within 30 days) was 9.5%. After adjusting well-known independent pre-operative risk factors for operative mortality, pre-operative HB <12 g/dL was identified as an independent predictor for in-hospital mortality (OR, 3.23; 95% CI, 1.09-9.55; P = 0.03). Also adjusting for EuroScore, pre-operative HB remained significant (OR, 3.64; 95% CI, 1.32-10.06; P = 0.01). The same model was applied to post-operative morbidity, and pre-operative HB <12 g/dL was identified as an independent predictor with and without EuroScore (OR, 4.67; 95% CI, 2.03-10.71; P < 0.001), (OR, 5.18; 95% CI, 2.18-12.3; P < 0.001), respectively. CONCLUSION: In patients undergoing elective valve replacement pre-operative HB <12 g/dL is a risk marker of in-hospital mortality and serious adverse outcomes.     

Efficacy of atorvastatin and gemfibrozil,alone and in low dose combination,in the treatment of diabetic dyslipidemia

To compare the effects of atorvastatin, gemfibrozil, and their combination on the components of diabetic dyslipidemia, 44 type 2 diabetic patients with low density lipoprotein cholesterol (LDLc) levels greater than 100 mg/dl and triglyceride levels less than 400 mg/dl were included. Twelve-week treatments with atorvastatin (10-20 mg/d) and gemfibrozil (900-1200 mg/d) were given in random order in an open, cross-over study and then combined (10 mg atorvastatin and 900 mg gemfibrozil) for 12 additional wk. Triglyceride, LDLc, high density lipoprotein cholesterol (HDLc), non-HDLc, apolipoprotein B (apoB), and LDL size were measured at baseline and after each treatment. Atorvastatin was more effective (P < 0.001) in lowering LDLc, non-HDLc, and apoB and in achieving treatment goals, whereas gemfibrozil lowered triglyceride levels more effectively (P < 0.001) and increased LDL size (from 25.59 +/- 0.06 to 25.69 +/- 0.06 nm; P < 0.05). Combined treatment with both drugs reduced LDLc, triglyceride, non-HDLc, and apoB by 26.5%, 24.1%, 30.4%, and 21.8%, respectively; increased HDLc by 4.8% and LDL size by 0.1 nm; and was the most effective treatment in reaching the therapeutic targets, especially in patients with triglyceride levels higher than 150 mg/dl. In conclusion, statins are first choice drugs in diabetic patients with low to moderate risk LDLc, although their combination with fibrates might be the most appropriate treatment, especially when triglyceride levels are above the therapeutic goal.     

Outcomes for haematological cancer patients admitted to an intensive care unit in a university hospital

Background

Haematological cancer (HC) patients are increasingly requiring intensive care (ICUs). The aim of this study was to investigate the outcome of HC patients in our ICU and evaluate 5 days-full support as a breakpoint for patients’ re-assessment for support.

Seasonal Patterns of Buruli Ulcer Incidence,Central Africa, 2002–2012

To determine when risk for Buruli ulcer is highest, we examined seasonal patterns in a highly disease-endemic area of Cameroon during 2002–2012. Cases peaked in March, suggesting that risk is highest during the high rainy season. During and after this season, populations should increase protective behaviors, and case detection efforts should be intensified.