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1 J. Magn. Reson. Imaging 2017;45:660-672.

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p53 polymorphic variants play an important role in the determination of tumor phenotype and characteristics in breast cancer. In this study, we examined three common polymorphisms in p53 gene and their haplotype combinations to assess their potential association with inherited predisposition to breast cancer development, in relations with the protein over-expression and patients' demographic data. A total of 99 patients with breast cancer and 107 age-matched healthy controls were included in the study. Genotypes were determined using PCR-RFLP and DNA sequencing techniques. Evaluation of p53 protein over-expression was also examined by immunohistochemistry. Among three polymorphisms, increased codon 72 Pro allele frequency (p = 0.0067) and the presence of Pro allele were found to be significantly associated with breast cancer (p = 0.013). A significant risk was also found in subjects with combinations of specific haplotypes and genotypes. Most of breast cancer women especially younger than 50 years carry at least one p53 polymorphism (p = 0.001). There was no any association between these three p53 polymorphisms and the protein over-expression, separately or in interaction, with breast cancer. In conclusion, presence of proline allele at codon 72 alone, and its special combinations with other two polymorphisms appear to be a significant risk factor for breast cancer. Determination of well-known p53 polymorphisms might be a good predictor for breast cancer development especially in women younger than 50 years.

A b s t r a c tBackground: Heart failure (HF) is a fatal disease. Plasma osmolality with individual impacts of sodium, blood urea nitrogen (BUN), and glucose has not been studied prognostically in patients with HF. Aim:This study aims to investigate the impact of serum osmolality on clinical endpoints in HF patients. Methods:A total of 509 patients (383 males, 126 females) with HF with reduced ejection fraction in three HF centres were retrospectively analysed between January 2007 and December 2013. Follow-up data were completed for 496 patients. Plasma osmolality was calculated as (2 × Na) + (BUN/2.8) + (Glucose/18). Quartiles of plasma osmolality were produced, and the possible relationship between plasma osmolality and cardiovascular mortality was investigated. Results:The mean follow-up was 25 ± 22 months. The mean age was 56.5 ± 17.3 years with a mean EF of 26 ± 8%. The mean levels of plasma osmolality were as follows in the quartiles: 1 st % = 280 ± 6, 2 nd % = 288 ± 1, 3 rd % = 293 ± 2 (95% confidence interval [CI] 292.72-293.3), and 4 th % = 301 ± 5 mOsm/kg. The EF and B-type natriuretic peptide levels were similar in the four quartiles. Univariate and multivariate analyses in the Cox proportional hazard model revealed a significantly higher rate of mortality in the patients with hypo-osmolality. The Kaplan-Meier plot showed graded mortality curves with the 1 st quartile having the worst prognosis, followed by the 4 th quartile and the 2 nd quartile, while the 3 rd quartile was shown to have the best prognosis. Conclusions:Our study results suggest that normal plasma osmolality is between 275 and 295 mOsm/kg. However, being close to the upper limit of normal range (292-293 mOsm/kg) seems to be the optimal plasma osmolality level in terms of cardiovascular prognosis in patients with HF.

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Familial Mediterranean fever (FMF) is a disease characterized by sporadic, paroxysmal attacks of fever and serosal inflammation. QT dispersion (QTd) and transmural dispersion of repolarization (TDR), simple noninvasive arrhythmogenic markers, that can be used to assess homogeneity of cardiac repolarization, have not been studied in FMF patients before. The aim of our study was to evaluate the QTd and TDR in FMF patients without overt cardiac involvement. A total of 50 patients with FMF (30 men, 20 women, 29.4 +/- 11.8 years) and 50 controls (30 men, 20 women; mean age 31.3 +/- 11.9 years) were included. QTd, corrected QTd (cQTd), maximum QT (QTmax), maximum corrected QT (cQTmax), minimum QT (QTmin), and minimum corrected QT intervals (cQTmin) and TDR were measured from standard 12-lead electrocardiography (ECG). We found that QTd, QTmax, and TDR were greater in FMF patients than in the control group (36.0 +/- 11.4 vs. 20 +/- 11.2, P < 0.001 and 354.8 +/- 30.9 vs. 342.8 +/- 18.0, P = 0.02; 62.0 +/- 16.0 vs. 49.0 +/- 9.5 P < 0.001, respectively), as were cQTd and cQTmax (40.4 +/- 13.5 vs. 21.9 +/- 12.4, P < 0.001 and 397.7 +/- 40.2 vs. 375.5 +/- 25.4 P = 0.001). A modest positive correlation was found between cQTd and C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) (r = 0.30, P < 0.001; r = 0.40, P < 0.001; respectively). QTd, which is an index of inhomogeneity of ventricular repolarization and an important predictor of cardiovascular mortality, and TDR, which is a better marker of cardiac repolarization, increased in FMF patients similarly as in other rheumatologic diseases.

Polymorphism of prolactin receptors might play a role in mammary carcinogenesis as a consequence of intracellular changes of PRLR signalling.