Association of the FOXO3A locus with extreme longevity in a southern italian centenarian study

A number of potential candidate genes in a variety of biological pathways have been associated with longevity in model organisms. Many of these genes have human homologs and thus have the potential to provide insights into human longevity. Recently, several studies suggested that FOXO3A functions as a key bridge for various signaling pathways that influence aging and longevity. Interestingly, Willcox and colleagues identified several variants that displayed significant genotype-gender interaction in male human longevity. In particular, a nested case-control study was performed in an ethnic Japanese population in Hawaii, and five candidate longevity genes were chosen based on links to the insulin-insulin-like growth factor-1 (IGF-1) signaling pathway. In the Willcox study, the investigated genetic variations (rs2802292, rs2764264, and rs13217795) within the FOXO3A gene were significantly associated with longevity in male centenarians. We validated the association of FOXO3A polymorphisms with extreme longevity in males from the Southern Italian Centenarian Study. Particularly, rs2802288, a proxy of rs2802292, showed the best allelic association-minor allele frequency (MAF) = 0.49; p = 0.003; odds ratio (OR) = 1.51; 95% confidence interval (CI), 1.15-1.98). Furthermore, we undertook a meta-analysis to explore the significance of rs2802292 association with longevity by combining the association results of the current study and the findings coming from the Willcox et al. investigation. Our data point to a key role of FOXO3A in human longevity and confirm the feasibility of the identification of such genes with centenarian-controls studies. Moreover, we hypothesize the susceptibility to the longevity phenotype may well be the result of complex interactions involving genes and environmental factors but also gender

Scar Remodeling with the Association of Monopolar Capacitive Radiofrequency, Electric Stimulation, and Negative Pressure

OBJECTIVE: A study was established to objectively assess the effects of low-intensity electromagnetic and electric stimulation plus negative pressure on mature scars. BACKGROUND: Radiofrequency plus negative pressure therapy demonstrated a favorable reorganization and regeneration of the collagen and elastic fibers and was proposed for the treatment of cellulitis and skin stretch marks. METHODS: Twenty-six mature scars in 20 Caucasian patients (15 females and 5 males) were enrolled in the study. The treatments were carried out with a Class I, BF-type electromedical device equipped with a radiofrequency generator, an electric pulse generator, and a vacuum pump twice a week for 3 months. Corneometry, transepidermal water loss, elastometry, colorimetry, and three-dimensional skin surface pattern were objectively assessed with Multi Probe Adapter System MPA and PRIMOS pico. A subjective assessment was carried out with the VAS and PSAS scales. Each scar was compared before and after the treatment and with the skin in the corresponding healthy contralateral anatomical area at the same times. RESULTS: Reduction of the scar surface wrinkling and overall scar flattening were demonstrated after the treatment. The scar slightly tended to approach the color and elasticity of healthy skin too. CONCLUSIONS: The combined local treatment of mature scars with low-intensity electromagnetic and electric stimulation in association with negative pressure might suggest a favorable synergic effect on the scar collagen and elastic fiber remodeling

Association of rs2200733 at 4q25 with atrial flutter/fibrillation diseases in an Italian population

BACKGROUND: Atrial fibrillation (AF) and atrial flutter (AFL) are common cardiac conduction disorders affecting many people. Recent studies on sporadic cases of AF/AFL showed a significant association of the single nucleotide polymorphism rs2200733T with the disease, suggesting a genetic factor in the development of the disease.OBJECTIVES: To determine the association of rs2200733 with AF/AFL derived from an Italian population sample.SUBJECTS: 78 patients with AF/AFL and 348 controls took part in the study.DESIGN: Genetic case-control study.RESULTS: The results indicate that there is a positive, significant association between the rs2200733 T allele and patients with AF/AFL of Italian origin (allelic p<0.001 with OR = 2.17).CONCLUSION: These results derived from a sample of the Italian population agree with previously reported findings from an Icelandic study, which also found that the minor allele rs2200733 was associated with AF/AFL disease

Maximal stiffness evaluation by real-time ultrasound elastography, an improved tool for the differential diagnosis of thyroid nodules

Objective: The aim of the study was to evaluate the diagnostic performance of a new ultrasound elastography (USE) parameter based on the measurement of the percentage of maximal stiffness within a nodule as compared with the already established elastographic strain index (SI) and to investigate their diagnostic performance according to nodule size. Methods: The study included 218 nodules. Each nodule underwent conventional ultrasound (US), USE evaluation, and fine-needle aspiration cytology (FNAC). Thyroid nodules were further stratified into 4 subgroups (G) according to their size (G1, 3 cm). USE evaluation comprised the measurement of the percentage of the areas included in the region of interest corresponding to the maximal stiffness (% Index) and of the SI. Results: The % Index and of the SI were significantly higher in malignant than in benign thyroid nodules, and both measurements displayed a good diagnostic performance (SI sensitivity and specificity, 0.66 and 0.90, respectively; % Index sensitivity and specificity, 0.76 and 0.89, respectively). Compared with SI, the % Index was more informative, both in the whole group of thyroid nodules (odds ratio [OR], 18.68; 95% confidence interval [CI], 6.06 to 63.49; P<.0001 versus OR, 26.15; 95% CI, 8.01 to 102.87; P<.0001, respectively) and in the G1 and G2 subgroups. Conclusion: The % Index is a stronger predictor of nodule malignancy than both the SI and the conventional US signs. This is particularly true in nodules smaller than 1 cm, which are more difficult to explore both by conventional US and FNAC

Beyond Cohort Selection: An Analytics-Enabled i2b2

The i2b2 software is a widely adopted solution for secondary use of clinical data for clinical research, specifically designed for cohort identification. i2b2 is still lacking functionalities for data analysis. The aim of this work is to empower the i2b2 framework enabling clinical researchers to perform statistical analyses for accelerating the process of hypothesis testing. To this aim we have developed a flexible extension of i2b2 able to exploit different statistical engines. We have implemented some first applications for basic statistics and survival analyses, exploiting this extension and accessible through suitable user interfaces designed with a special consideration for usability

Pentraxin 3 Induces Vascular Endothelial Dysfunction Through a P-selectin/Matrix Metalloproteinase-1 Pathway

Pentraxin 3 (PTX3), the prototype of long pentraxins, has been described to be associated with endothelial dysfunction in different cardiovascular disorders. No study has yet evaluated the possible direct effect of PTX3 on vascular function