Biparametric MRI of the prostate.

Biparametric Magnetic Resonance Imaging (bpMRI) of the prostate combining both morphologic T2-weighted imaging (T2WI) and diffusion-weighted imaging (DWI) is emerging as an alternative to multiparametric MRI (mpMRI) to detect, to localize and to guide prostatic targeted biopsy in patients with suspicious prostate cancer (PCa). BpMRI overcomes some limitations of mpMRI such as the costs, the time required to perform the study, the use of gadolinium-based contrast agents and the lack of a guidance for management of score 3 lesions equivocal for significant PCa. In our experience the optimal and similar clinical results of the bpMRI in comparison to mpMRI are essentially related to the DWI that we consider the dominant sequence for detection suspicious PCa both in transition and in peripheral zone. In clinical practice, the adoption of bpMRI standardized scoring system, indicating the likelihood to diagnose a clinically significant PCa and establishing the management of each suspicious category (from 1 to 4), could represent the rationale to simplify and to improve the current interpretation of mpMRI based on Prostate Imaging and Reporting Archiving Data System version 2 (PI-RADS v2). In this review article we report and describe the current knowledge about bpMRI in the detection of suspicious PCa and a simplified PI-RADS based on bpMRI for management of each suspicious PCa categories to facilitate the communication between radiologists and urologists.

Body mass index associated to rs2021966 ENPP1 polymorphism increases the risk for gestational diabetes mellitus.

Gestational diabetes mellitus (GDM) is a condition of impaired glucose tolerance occurring in 1-14% of all pregnancies. This wide range reflects pathological involvement of single nucleotide polymorphisms (SNPs) and maternal weight as risk factors. This study evaluated the association of genetic component and maternal factors to identify women with higher risk of developing GDM. About 240 pregnant women characterized by negative Oral Glucose Tolerance Test (-OGTT) and 38 with positive OGGT (+OGTT) were enrolled. SNPs for ENPP1, NRF1, VEGFA, CEBPA, and PIK3R1 were analyzed by SNP genotyping. An association study was performed and differences in genotype and allele frequencies between cases and controls were analyzed by χ(2) test. +OGTT was associated to high values of pre-gestational body mass index (BMI) and age. SNP for ENPP1 gene was associated to +OGTT, while genetic variants for other genes did not correlate to GDM. ENPP1 homozygous for A allele and heterozygous showed altered frequencies in +OGTT when compared with -OGTT. Association of both pre-gestational BMI and age with AA homozygous genotype increased significantly the risk to +OGTT. Our results demonstrate that correlation of age and pre-gestational BMI with homozygous for A allele increased significantly the risk of impaired glucose tolerance and GDM.

Incidence of ß-thalassemia carrier on 1495 couples in preconceptional period.

OBJECTIVE: This research, conducted on 1495 couples in preconceptional period, demonstrates how the study of globular resistance of erythrocytes (GRO) is not a first choice test and not useful as other more accurate tests to identify subjects with ß-thalassemia trait. Instead, the complete blood count (CBC) and the evaluation of HbA, HbA2 and HbF by high pressure liquid chromatography (HPLC) are essential. METHODS: Each couple arrived in our laboratory to screen for ß thalassemia. In case of patients with positive (240) or doubtful (112) results, we studied ß-globin gene. RESULTS: Of the 2990 subjects examined, we found 280 subjects with ß-thalassemia trait (9.36%). During biochemical tests, among 112 subjects with doubtful--normal GRO or altered GRO--results, 40 of them resulted positive for the molecular analysis, while 72 of them did not show mutations in ß-globin genes. The 2710 samples with non-carriers of ß-thalassemia trait presented as mean evaluation of HbA2 2.6%, while the 280 subjects with ß-thalassemia trait presented as mean evaluation of HbA2 4.8%. Molecular study showed that the ß thalassemia phenotype is caused by a small number of mutations, whose regional distribution is typical. CONCLUSIONS: In the presence of thalassemic parameters in the CBC, the accurate and precise quantification of hemoglobin HbA2 is essential for the diagnosis of ß-thalassemia trait. DNA mutation analysis provides the most effective way to detect primary gene mutations. The mutations identified in this work can be identified with a simple and inexpensive kit. This means, in economic terms, a significant savings for health spending.