The level of origin of renal arteries in horseshoe kidney vs. in separated kidneys: CT-based study.

PURPOSE: Horseshoe kidney is a rare congenital anomaly with potential clinical implications. The aim of this study was to determine the number of renal arteries and veins and the level at which the arteries branched off their parental vessels in individuals with horseshoe kidney (HSK) and in persons with separated kidneys (SK). MATERIALS AND METHODS: The analysis included computed tomography angiography studies of 331 patients (83 HSK and 248 SK). The number of renal vessels and diameters of renal arteries were determined, along with the level at which they branched in relation to other ramifications (four groups of origin were proposed) and their entrance of the vessels to the kidney. RESULTS: Number of renal arteries in HSK group was 4.57 ± 1.39 per patient and 2.4 ± 0.43 in SK group (p < 0.0001). The distribution of branching level of renal arteries in HSK group was: I group ~ 57%, II group ~ 27%, III group ~ 15% and IV group < 1%, whereas in SK group the distribution was respectively: I group ~ 99%, II group < 1%, III and IV group - 0% (p = 0.0001). In HSK group, diameter of renal arteries branching above the IMA was 4.61 ± 1.58 mm, as compared with 3.96 ± 1.34 mm for the arteries branching below (p = 0.0004). Number of veins was 566 in SK group (87.70% of kidneys were supplied by single vein) and 323 in HSK group (9.64% kidneys were supplied by two veins) (p < 0.0001). CONCLUSION: In HSK group, renal arteries significantly more often branch off their parental vessels below the origin of IMA and such vessels are usually smaller.

Does the type of renal artery anatomic variant determine the diameter of the main vessel supplying a kidney? A study based on CT data with a particular focus on the presence of multiple renal arteries.

BACKGROUND: An in-depth knowledge of renal vascular anatomy is essential when planning many surgical procedures; however, a few data exists regarding renal artery diameter. The aim of this study was to assess this morphological feature and to investigate whether a correlation exists between renal artery diameter and the type of arterial supply, with a particular emphasis on variant anatomy and the presence of multiple renal arteries. MATERIALS AND METHODS: Computed tomography angiography (CTA) studies of 248 patients, i.e., a total of 496 kidneys, were evaluated. The mean age of the patients was 66.4 ± 15.01 years. Renal artery diameter was measured based on the type of arterial blood supply. RESULTS: The frequency of occurrence of three anatomic variants of renal arterial supply was established: single renal artery (RA) 43.35%, single artery with prehilar branching (pRA) 37.30%, and multiple renal artery (mRA) 19.35%. The diameter of single renal arteries, with either prehilar or hilar branching, was significantly larger than when multiple arteries were present. A detailed analysis of just the mRA variant demonstrated that the diameter of the renal arteries in men was larger (p = 0.012) than those in women and that there was no difference in diameter with regard to the side of the body (p = 0.219). CONCLUSIONS: The classification described in our study containing a detailed description of renal artery diameter. It may be helpful in clinical practice, especially for transplantologists, surgeons, and vascular surgeons.

Comprehensive investigation of genetic variation in the 8q24 region and multiple myeloma risk in the IMMEnSE consortium.

Genome-wide association studies (GWAS) have shown that the 8q24 region harbours multiple independent cancer susceptibility loci, even though it is devoid of genes. Given that no GWAS data are currently available for multiple myeloma (MM), we tested the hypothesis that genetic variants in this region could play a role in MM risk. We genotyped 20 single nucleotide polymorphisms of 8q24 in 1188 MM cases and 2465 controls and found a statistically significant (P = 0·0022) association between rs2456449 and MM risk. These data provide further evidence that the genetic variability in the 8q24 region is associated with cancer risk, particularly haematological malignancies.

Common genetic variation at 15q25.2 impacts on chronic lymphocytic leukaemia risk.

A genome-wide association study of chronic lymphocytic leukaemia (CLL) suggested that common variants at 15q25.2 (rs783540) and 18q21.1 (rs1036935) influence CLL. To validate these associations and explore their relationship with CLL risk we genotyped case-control datasets from Poland, UK and Italy totalling 1428 cases and 1920 controls. Combined data from these and previously genotyped series (2503 cases and 5789 controls) provided evidence for an association between 15q25.2 and 18q21.1 loci and CLL risk (P(combined) = 1·10 × 10(-7) and 1·30 × 10(-5) respectively). These data provide further evidence for the involvement of common genetic variants in CLL risk and insight into the biological basis of disease development.

Circulating microRNAs as biomarkers for myocardial fibrosis in patients with left ventricular non-compaction cardiomyopathy.

INTRODUCTION: Despite the fact that cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) is a proven method for detecting myocardial fibrosis, there is a need for new and reliable serological biomarkers. Circulating miRNAs could be a practical and attractive alternative. The purpose of the study was to assess the miRNAs well established in myocardial fibrosis - miR-21, miR-29a, miR-30d and miR-133a - in the plasma of patients with left ventricular non-compaction (LVNC) that have areas of LGE assessed by CMR. MATERIAL AND METHODS: We prospectively enrolled 13 adult patients (9 males and 4 females; mean age: 39 ±11.7 years) considered to meet standard CMR criteria for LVNC and 10 healthy age- and sex-matched subjects. All LVNC patients and control subjects underwent CMR examination and the measurement of peripheral plasma levels of 4 miRNAs: miR-21, miR-29a, miR-30d and miR-133a. RESULTS: The LGE was present in 9 of the 13 (69.2%) LVNC patients, and most often located in the ventricular septum. Compared with LGE-negative patients, LGE-positive patients had significantly lower LVEF (28.3 ±13.3% vs. 53.5 ±14.9%, p = 0.0113) and greater LV end-diastolic diameter (67.8 ±9.5 mm vs. 57 ±2.2 mm, p = 0.01). Significant up-regulation of all 4 miRNAs was observed among LGE-positive patients vs. LGE-negative patients: miR-21 (p = 0.007), miR-29a (p = 0.0001), miR-30d (p = 0.001) and miR-133a (p = 0.0003). CONCLUSIONS: The up-regulation of miR-21, miR-29a, miR-30d and miR-133a indicates the presence of LGE in LVNC patients, and therefore they may serve as potential biomarkers for myocardial fibrosis.

Genetics and molecular epidemiology of multiple myeloma: the rationale for the IMMEnSE consortium (review).

There is strong evidence suggesting the presence of a genetic component in the aetiology of multiple myeloma (MM). However no genetic risk factors have been unequivocally established so far. To further our understanding of the genetic determinants of MM risk, a promising strategy is to collect a large set of patients in a consortium, as successfully done for other cancers. In this article, we review the main findings in the genetic susceptibility and pharmacogenetics of MM and present the strategy of the IMMEnSE (International Multiple Myeloma rESEarch) consortium in contributing to determine the role of genetic variation in pharmacogenetics and in MM risk.