Case–control study and meta-analysis of SULT1A1 Arg213His polymorphism for gene, ethnicity and environment interaction for cancer risk

Cytosolic sulphotransferase SULT1A1 plays a dual role in the activation of some carcinogens and inactivation of others. A functional polymorphism leading to Arg213His substitution (SULT1A1*2) affects its catalytic activity and thermostability. To study the association of SULT1A1*2 polymorphism with tobacco-related cancers (TRCs), a case–control study comprising 132 patients with multiple primary neoplasm (MPN) involving TRC and 198 cancer-free controls was carried out. One hundred and thirteen MPN patients had at least one cancer in upper aerodigestive tract including lung (UADT-MPN). SULT1A1*2 showed significant risk association with UADT-MPN (odds ratio (OR)=5.50, 95% confidence interval (CI): 1.09, 27.7). Meta-analysis was conducted combining the data with 34 published studies that included 11 962 cancer cases and 14 673 controls in diverse cancers. The SULT1A1*2 revealed contrasting risk association for UADT cancers (OR=1.62, 95% CI: 1.12, 2.34) and genitourinary cancers (OR=0.73, 95% CI: 0.58, 0.92). Furthermore, although SULT1A1*2 conferred significant increased risk of breast cancer to Asian women (OR=1.91, 95% CI: 1.08, 3.40), it did not confer increased risk to Caucasian women (OR=0.92, 95% CI: 0.71, 1.18). Thus risk for different cancers in distinct ethnic groups could be modulated by interaction between genetic variants and different endogenous and exogenous carcinogens

The hemodynamic approach to evaluating adolescent varicocele

During adolescence, the risk of developing a varicocele increases. Prevalence is less than 1% in boys aged younger than 10 years, but approaches that of the general adult population (about 15%) during puberty. For adolescent males with varicoceles, surgical risk factors have not yet been clearly delineated and clinical severity correlates poorly with prognosis. Fortunately, the widespread use of Doppler ultrasonography is transforming the diagnostic work-up for this demographic. A continuous reflux detected by color Doppler ultrasound (CDUS) is thought to have a negative prognostic value and evidence suggests that a peak retrograde flow above 38 cm per second is a powerful predictor of lack of spontaneous improvement in adolescent patients with >= 20% asymmetry between testes. CDUS also enables the detection of varicocele resulting from reflux in the deferential vein adjunctive to a refluxing internal spermatic vein; a causality that accounts for approximately 15% of cases. In addition to a diagnostic role, hemodynamic parameters can be used to predict the risk of persistence or worsening asymmetry. Although further studies are necessary to validate single parameters, it seems that the more severe the reflux, the greater the likelihood that the patient will develop testicular asymmetry