No abstract

No abstract

Turner Syndrome occurs in one out of every 5000 live female births and the diagnosis is usually based on the clinical presentation. In the last 9 years, 17 of 1681 patients who underwent cytogenetic evaluation to investigate uncertain chromosomal anomaly had Turner syndrome. Ten of the patients were the 45,X (classic) type, 2 patients were 46,X,i(Xq), 1 patient was 46,X,der(X)del(X)(p22.1) del(X)(q26), and 4 were mosaic (2 were 45,X/46,XY and the other 2 were 45,X/47,XXX). Detailed clinical evaluations of these patients are presented.

Many previous studies revealed that smoking increases leukocyte and lymphocyte counts while exposure to X-rays decreases these counts. However the relationships between lymphocyte life span and smoking as well as X-rays were not well documented. The primary aim of this study was to determine relationships between smoking X-rays (in combination and individually) and life span of lymphocytes. Blood samples from 200 healthy individuals, half of which were X-ray exposed individuals, were collected. Half of X-ray exposed and of non-X-ray exposed individuals were smokers. There were equal numbers of male and female participants. Two lymphocyte cultures, one for the sister chromatid exchange (SCE) analysis and the other for the determination of mitotic index values were prepared using one part of the blood samples collected from the individuals. From the other part of the blood sample leukocyte and lymphocyte counts were determined with a haemogram device. Evaluation of the findings suggested that leukocyte count, lymphocyte count, mitotic index were relatively lower for the X-ray exposed individuals. In addition these values were higher for smokers than nonsmokers in general. The highest SCE rates were recorded for smoking radiology technicians. The most important finding is that lymphocyte life span is relatively low in smokers and in X-ray exposed males.

Alterations of the human epidermal growth factor receptor 2 (HER2) protooncogene have been implicated in the carcinogenesis and prognosis of breast cancer. A polymorphism has been identified at codon 655 (ATC/isoleucine to GTC/valine [I655V]) in the transmembrane domain-coding region of this gene, which may be associated with the risk of breast cancer. In this study we aimed to determine whether the risk of breast cancer is associated with the I655V polymorphism of HER2 transmembrane domain-coding region at codon 655. The genomic DNA from breast cancer patients and control subjects underwent analysis by the polymerase chain reaction-fragment length polymorphism. We observed no overall association between HER2 genotype and breast cancer (p = 0.53). However, an elevated positive association was observed for Ile/Val+Val/Val versus Ile/Ile genotypes in women >age 60 years (p = 0.02). Further, other risk factors--namely, the body mass index and family history--were found to be risk factors for developing breast cancer (p = 0.006 and p = 0.00, respectively). In conclusion, results of this study suggest that polymorphisms of the HER2 gene may be important susceptibility biomarkers for breast cancer risk among older women.