These data demonstrate a higher than expected prevalence of premature carotid lesions in the PI-treated compared with PI-naive patients. If confirmed, a periodic ultrasonographic study of the vascular wall should be included in the follow-up of HIV infected patients.

Germline point mutations in BRCA1 and BRCA2 genes account for about 30% of the inherited breast and ovarian cancers. Germline genomic rearrangements have been found in both BRCA1 and BRCA2 genes, but the extent to which these alterations might contribute to increasing the actual mutation detection rate is still debated. Here we screened a cohort of 112 consecutive Italian families at moderate-to-high risk for breast and/or ovarian cancer for BRCA1 and BRCA2 point mutations and genomic rearrangements. Of the 83 point mutation negative probands, two (2.4%) showed BRCA1 rearrangements, accounting for 10.5% of the BRCA1 mutations. BRCA1 del18-19 has been previously described in another Italian family, while the molecular characterization of the BRCA1 del23-24 is given here for the first time. Conversely, we failed to identify any BRCA2 rearrangements even in the hereditary breast cancer families, where we detected an higher prevalence of BRCA2 compared to BRCA1 point mutations. Our results support the idea that search for BRCA1 rearrangements should be included in the genetic screening of even moderate risk breast/ovarian cancer families. In contrast, they suggest BRCA2 rearrangements might be very rare out of the high risk families including a male breast cancer.

No abstract

To verify the impact of severe obesity (defined as body mass index > 31 kg/m²) on left ventricular (LV) function, 32 asymptomatic obese but otherwise healthy subjects (16 men; age 38 ± 11 years) voluntarily underwent first-pass and equilibrium ^99mTc radionuclide angiography at rest and, in 22 of them, during bicycle supine exercise. Data were compared to those obtained from 10 normal volunteers (age 48 ± 13; p < 0.05, vs. obeses). End-diastolic and stroke volumes did not differ between the two groups, whereas end-systolic volume was significantly higher in obese subjects (67 ± 20 vs. 49 ± 20 ml; p < 0.05), and, as a consequence, LV ejection fraction at rest was decreased in obese subjects (59 ± 7%) compared to normals (65 ± 6%; p < 0.05). Due to the higher heart rate in obese subjects (81 ± 13 vs. 69 ± 10 bpm, respectively; p < 0.05) cardiac output was significantly greater compared to normals (7.1 ± 0.8 vs. 6.2 ± 0.2 liters/min, respectively; p < 0.01). During exercise, ejection fraction normally increased in normals (70 ± 7%; p < 0.001, vs. baseline) but not in obese subjects (60 ± 9%; p = nonsignificant vs. baseline). In addition, systolic blood pressure/end-systolic volume ratio was significantly decreased in obese subjects (2.3 ± 1.3) compared to normals (2.8 ± 1.6; p < 0.05). Peak filling rate, normalized to end-diastolic counts per second, was significantly lower in obese subjects (2.2 ± 1.3) compared to normals (2.8 ± 1.6; p < 0.05). This difference was also true when peak filling rate was computed in stroke counts per second (3.8 ± 0.8 in obeses vs. 4.4 ± 0.4 in normals; p < 0.05). Repeat analysis in a subgroup of 10 young obese subjects (age ≤30 years) confirmed decreased ejection fraction at rest (60 ± 4%; p < 0.05) and peak filling rate (2.4 ± 0.4 end-diastolic counts/s; p < 0.05), as well as the lack of ejection fraction increase during exercise (59 ± 9%). Thus, these data indicate a subclinical impairment of LV systolic and diastolic function at rest and during exercise in asymptomatic severely obese but otherwise healthy subjects.

Magnetic resonance imaging (MRI) is the gold standard method for non-invasive assessment of joint cartilage, providing information on the structure, morphology and molecular composition of this tissue. There are certain minimum requirements for a MRI study of cartilage tissue: machines with a high magnetic field (> 1.5 Tesla); the use of surface coils; and the use of T2-weighted, proton density-weighted fast-spin echo (T2 FSE-DP) and 3D fat-suppressed T1-weighted gradient echo (3D-FS T1W GRE) sequences. For better contrast between the different joint structures, MR arthography is a method that can highlight minimal fibrillation or fractures of the articular surface and allow evaluation of the integrity of the native cartilagerepair tissue interface. To assess the biochemical composition of cartilage and cartilage repair tissue, various techniques have been proposed for studying proteoglycans [dGEMRIC, T1rho mapping, sodium (23Na) imaging MRI, etc.], collagen, and water distribution [T2 mapping, "magnetisation transfer contrast", diffusion-weighted imaging (DWI), and so on]. Several MRI classifications have been proposed for evaluating the processes of joint degeneration (WORMS, BLOKS, ICRS) and post-surgical maturation of repair tissue (MOCART, 3D MOCART). In the future, isotropic 3D sequences set to improve image quality and facilitate the diagnosis of disorders of articular structures adjacent to cartilage.