BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients

To date, BRCA1 and BRCA2 mutations in breast and/or ovarian patients have not been characterized in the Turkish population. We investigated the presence of BRCA mutations in 53 individuals with a personal and family history of breast and/or ovarian cancer, and 52 individuals with a personal history of breast cancer diagnosed below age 50 without additional family history. We have identified 11 mutations (nine BRCA1 and two BRCA2) using combined techniques involving protein truncation test, direct sequencing and heteroduplex analysis. We found eight out of 53 patients (15.1%) with a family history to carry BRCA gene mutations (seven BRCA1 and one BRCA2). Of these, four were found in 43 families presenting only breast cancer histories, and four were found in families presenting ovarian cancer with or without breast cancer. We also demonstrated two BRCA1 and one BRCA2 mutations in three out of 52 (5.8%) early-onset breast cancer cases without additional family history. Three of nine BRCA1 and both BRCA2 mutations detected in this study were not reported previously. These mutations may be specific to the Turkish population. The BRCA1 5382insC mutation, specific to Ashkenazi and Russian populations, was found twice in our study group, representing a possible founder mutation in the Turkish population. © 2000 Cancer Research Campaig

Promoter DNA Methylation of Oncostatin M receptor-β as a Novel Diagnostic and Therapeutic Marker in Colon Cancer

In addition to genetic changes, the occurrence of epigenetic alterations is associated with accumulation of both genetic and epigenetic events that promote the development and progression of human cancer. Previously, we reported a set of candidate genes that comprise part of the emerging “cancer methylome”. In the present study, we first tested 23 candidate genes for promoter methylation in a small number of primary colon tumor tissues and controls. Based on these results, we then examined the methylation frequency of Oncostatin M receptor-β (OSMR) in a larger number of tissue and stool DNA samples collected from colon cancer patients and controls. We found that OSMR was frequently methylated in primary colon cancer tissues (80%, 80/100), but not in normal tissues (4%, 4/100). Methylation of OSMR was also detected in stool DNA from colorectal cancer patients (38%, 26/69) (cut-off in TaqMan-MSP, 4). Detection of other methylated markers in stool DNA improved sensitivity with little effect on specificity. Promoter methylation mediated silencing of OSMR in cell lines, and CRC cells with low OSMR expression were resistant to growth inhibition by Oncostatin M. Our data provide a biologic rationale for silencing of OSMR in colon cancer progression and highlight a new therapeutic target in this disease. Moreover, detection and quantification of OSMR promoter methylation in fecal DNA is a highly specific diagnostic biomarker for CRC

Reconstruction of deep cubital fossa defects with exposure of brachial artery due to high tension electrical burns and treatment algorithm

PubMedID: 15993307In this paper, we selected eight patients who had cubital fossa electrical burns with exposure or damage of the brachial artery, during the period 2000 to 2004 and formulated an algorithm to salvage upper limbs. We demonstrated the effectiveness of the algorithm to rescue the extremity from amputation and to restore the functional ability combined with coverage of the defects. After initial management with decompression and debridement of the nonviable tissues surrounding the brachial artery, we used local fasciocutaneous flaps or pedicled latissimus dorsi (LD) muscle/musculocutaneous flaps immediately to cover and also to avoid the perforation of this artery with a mean of 5.5 operations and with an amputation rate of 12.5%. When perforation or necrotic focus was seen on the arterial wall without viable tissue around the brachial artery, circulation was restored with vein grafts. Deep defects in the cubital fossa with exposure of the brachial artery should be covered with well-vascularized tissue as soon as possible after serial debridements. If the necrotic focus is seen on the wall of the artery, it often requires a venous graft with flap coverage. In the presence of viable tissue around the artery, however, fasciocutaneous flaps are useful and they reduce the operation time and duration of hospital stay. We treated deep defects with exposure of the brachial artery in the cubital fossa according to our established algorithm. Adherence to this approach precluded dilemmas in the selection of flap types for the management of bulky tissue defects. © 2005 Elsevier Ltd and ISBI. All rights reserved

Coverage of scalp defects following contact electrical burns to the head: A clinical series

PubMedID: 16448765Fifteen patients with various scalp defects resulting from contact electrical burns to the head, were reconstructed between the periods of January 1989 and October 2004 in our burns unit. The incidence of scalp burns in our patient population was 2.99% for electrical injuries and 0.95% for all burns during the study period. We present here a clinical series of fifteen patients with large, complex scalp defects following contact electrical burns to the head treated successfully by the application of local and free flaps. In this series, four free flaps, one pedicled flap and 10 local flaps were used for the reconstructions with no major postoperative complications seen. The average size of the defect was 89.45 cm2 for cases in whom local flaps were applied, 193 cm2 for free flaps and 143 cm2 for one case treated with distant flap. Four cases required craniectomies because of the delay in reporting to our burns unit. Early surgical attempt to cover the defect with a well-vascularized tissue provides excellent healing, osteogenesis, short hospital staying, low rate of infection and requires no surgical debridement of the bone in the early phase

A retrospective analysis of 1083 Turkish patients with serious burns

PubMedID: 11996853A total of 1083 burn cases hospitalised at a burn center between August 1988 and the end of 1997 were studied retrospectively to determine the factors and demographic features associated with burn injury in Turkey. The means for patient age and percent total body surface area (TBSA) burned were 18.1 years and 31.2%, respectively (medians were 14.0 years and 25.0%, respectively). Burn injuries were more common in winter and spring, and most occurred in the home. The majority of patients were city dwellers, and had been referred from public hospitals. There was a predominance of male patients (71.9%) in the study population, but the proportions of children and adults were equal. Almost half of the males and the majority of the females were children/students. The vast majority of female adults were housewives, and most of the men were employed outside the home. More than half of the patients suffered second-degree burns, and the others all had deeper burn injuries. The most frequent cause of burn in the study population was flame. Children mainly suffered from scalding, and adults from flame and electrical burns. There were no differences between the sexes regarding depth of burn; whereas percentage total burned surface area was higher in females. Children had a lower mean TBSA and lower rate of third-degree burns. Mortality rate of the study population was 33.5%. The study results identified various risk factors and the groups at high risk for serious burns and indicated some ways that prevention programmes can be improved. © 2002 Published by Elsevier Science Ltd and ISBI