THE STRATIGRAPHIC RECORD OF OLIGOCENE-EARLY MIOCENE EVENTS AT THE SOUTH-WESTERN END OF THE PIEDMONT TERTIARY BASIN

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Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia

<p>Abstract</p> <p>Background</p> <p>The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis.</p> <p>Methods</p> <p>To search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic.</p> <p>Results</p> <p>In T1D, aside from the HLA locus, we found four regions showing a lod-score ≥1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score ≥1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we typed more markers in these intervals we obtained suggestive evidence of linkage in the T1D scan at 10q21.2 (LOD = 2.1), in the MS scan at 1q42.2 (LOD = 2.5) and at 18p11.22 (LOD = 2.6). When all T1D and MS families were analysed jointly we obtained suggestive evidence in two regions: at 10q21.1 (LOD score = 2.3) and at 20p12.3 (LOD score = 2.5).</p> <p>Conclusion</p> <p>This suggestive evidence of linkage with T1D, MS and both diseases indicates critical chromosome intervals to be followed up in downstream association studies.</p

Analisi cronobiologica dell’attività fisica in soggetti con ridotta tolleranza ai carboidrati (RTC)

Impaired glucose tolerance (IGT) is a disorder of glucose metabolism, associated with a significant risk for chronic complications, especially affecting the cardiovascular system. Several studies showed that although IGT can persist in a stable form for many years, up to 30% of cases, if not treated with lifestyle modification (caloric restriction and physical exercise), can progress to overt DM2. In this study we examined a cohort of adult IGT patients (12 men and 8 women; mean age 58.6 ± 7.5 years) with overweight/obesity (BMI = 32.2 ± 3.6 kg/m2) treated during twelve months with moderate caloric restriction (aimed to a 2-8% body weight reduction in 6 months) and with moderate physical activity (3-6 METs or 1500 kcal/week). We evaluated the effect of the duration and intensity of physical activity on glucose and lipid metabolism at the end of the time interval. Physical activity was measured by using questionnaire as well as with the metabolic holter Sensweare™ Armband (BodyMedia Inc.) worn for three consecutive days. With the help of the Cronolife® software we constructed a “motion polygon” which represent the lifestyle of the subject. After 12 months of treatment plasma glucose values at the second hour of OGTT showed a correlation with total energy expenditure (TEE) (r = –0.44; p = 0.022) and especially with the intensity of physical activity > 3 METs (r = –0.64 p = 0.003). A significant correlation between TEE and reduction of LDL cholesterol levels (r = 0.56; p = 0.011) but not with body weight reduction, was found. Based on these results we suggest to treat IGT subjects, other than with caloric restriction, also with a program of physical reconditioning which includes physical activity levels between 10 and 20 METs/h/week. The subject’s compliance to the prescribed physical activity may be accurately determined with the Armband/Cronolife® system

Plasma lipoprotein composition, apolipoprotein(a) concentration and isoforms in β-thalassemia

Patients with homozygous β-thalassemia show an abnormal lipoprotein profile. In asymptomatic heterozygotes the lipid pattern is less markedly affected but interestingly related to a diminished cardiovascular risk. The extent and significance of these findings are still a matter of debate and no data are available on lipoprotein(a) plasma levels. Seventy patients with homozygous β-thalassemia (HT-P), 70 β-thalassemia trait carriers (TT-C) and 70 sex and age-matched controls were investigated and their plasma lipoprotein profile and apo(a) phenotypes determined. In a subgroup of these same subjects (12 HT-P, 12 TT-C and 24 controls) and in 12 bone marrow- transplanted homozygous β-thalassemic patients (BMT-P) plasma lipoprotein composition was assessed. HT-P disclosed significantly lower total- cholesterol. LDL-cholesterol, HDL-cholesterol, apo A-I, apo B plasma levels and higher triglyceride concentration than TT-C (-7, -11,- 8, -8, -13 and +11%, respectively) or controls (-39,-50, -46, -32, -30 and +35%, respectively). All lipoprotein subclasses were triglyceride-enriched, while LDLs were also protein-enriched and HDLs protein-depleted. TT-C disclosed a small but significant reduction in apo A-I and apo B plasma levels but only minor lipoprotein abnormalities with respect to the controls. BMT-P lipoprotein composition was intermediate between HT-P and normal subjects, Apo(a) plasma levels did not differ among the groups. A higher prevalence of 'small apo(a) isoforms was present in HT-P. Within the same 'isoform group', apo(a) plasma levels were significantly lower in HT-P than in TT-C or controls. Since liver cirrhosis is almost always present in HT-P, it is conceivable that an altered hepatic apo(a) synthesis or catabolism due perhaps to diminished apolipoprotein glycation may be involved. In TT-C a partially improved cardiovascular risk profile was apparent (low hematocrit, low LDL-cholesterol and apo B) thus justifying the claim for a low prevalence of ischemic heart disease, but no Lp(a) plasma level modification could be detected

A Prospective, Randomized, Open-Label Trial of Atorvastatin versus Rosuvastatin in the Prevention of Contrast-Induced Acute Kidney Injury, Worsened Renal Function at 30 Days, and Clinical Events After Acute Coronary Angiography: the PRATO-ACS-2 Study

Both high-dose atorvastatin and rosuvastatin have been shown to reduce contrast-induced acute kidney injury (AKI) occurrence and improve clinical outcomes in high-risk coronary patients undergoing angiographic procedures. However, there is a lack of head-to-head comparative studies on the effects of atorvastatin or rosuvastatin administered upon hospital admission in statin-naive patients with non-ST segment elevation acute coronary syndrome (NSTE-ACS)

Lifestyle and nutrition related to male longevity in Sardinia: an ecological study

Background and aims: A demographic analysis in the Mediterranean island of Sardinia revealed marked differences in extreme longevity across the 377 municipalities and particularly identified a mountain inner area where the proportion of oldest subjects among male population has one of the highest validated value worldwide. The cause(s) of this unequal distribution of male longevity may be attributed to a concurrence of environmental, lifestyle and genetic factors. Methods and results: In this study we focussed on some lifestyle and nutrition variables recorded in the island’s population in early decades of 20th century, when agricultural and pastoral economy was still prevalent, and try to verify through ecological spatial models if they may account for the variability in male longevity. By computing the Extreme Longevity Index (the proportion of newborns in a given municipality who reach age 100) the island’s territory was divided in two areas with relatively higher and lower level of population longevity. Most nutritional variables do not show any significant difference between these two areas whereas a significant difference was found with respect to pastoralism (P = 0.0001), physical activity estimated by the average slope of the territory in each municipality (P = 0.0001), and average daily distance required by the active population to reach the usual workplace (P = 0.0001). Conclusion: Overall, these findings suggest that factors affecting the average energy expenditure of male population such as occupational activity and geographic characteristics of the area where the population mainly resides, are important in explaining the spatial variation of Sardinian extreme longevity

The ideal marker for measuring GFR: what are we looking for?

INTRODUCTION: The most accurate way of assessing kidney function is the measurement of the glomerular filtration rate (GFR). Since, we do not have good formulae to estimate GFR in elderly, in this study we evaluate the accuracy of the most commonly used formulas for the estimation of GFR in comparison with direct measurement in elderly.MATERIALS AND METHODS: 85 patients (51 males and 34 females), with an average age of 76.2 ± 4.4 years, 42% already diagnosed with chronic kidney disease (CKD) were investigated. Two plasma samples were collected between 60-90 and 165-195 minutes after injection of 99mTc-DTPA, and the GFR was calculated applying Charles D. Russell's two-sample method.RESULTS: When comparing the GFR values obtained from the various formulae by creatinine levels with the GFR values obtained by measuring 99mTc-DTPA residue, the following concordance values emerged: (1) MDRD: 57.5 ± 9.59 %; (2) Cockroft-Gault: 48.33 ± 24.93; (3) CKD-EPI: 49.40 ± 26.30; (4) BIS1: 58 ± 6.79.CONCLUSION: Our data shows a greater concordance between the GFR values calculated with the Russell's method and the estimated values of GFR when the latter are calculated using the MDRD or BIS1 formulae