Purpose
The purpose of this study was to assess the relationship between osteoporosis and the angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism in a Turkish population.
...Methods
The study group consisted of 238 unrelated women with osteoporosis and 124 unrelated healthy female controls. All participants, patients and healthy controls, were of Turkish origin from the central region of Turkey. Genomic DNA was isolated from whole venous blood samples using a commercial DNA isolation kit. The ACE gene I/D polymorphism was analysed by polymerase chain reaction and gel electrophoresis.
Results
Frequencies of the DD, ID and II genotypes in the patients were 44.5, 41.2 and 14.3 %, and in the controls they were 25.0, 51.6 and 23.4 %, respectively. A significant difference was observed between patients and controls according to genotype frequency (p = 0.001). D and I allele frequencies of the I/D polymorphism were 65.1 and 34.9 % in the patient group and 50.8 and 49.2 % in the control group, respectively (p < 0.001).
Conclusion
The ACE gene I/D polymorphism could be a genetic factor associated with osteoporosis.
Vitamin D receptor (VDR) gene variants may play a key role in the susceptibility to tuberculosis (TB). We have investigated the association BsmI, TaqI, FokI polymorphisms in the VDR gene with ...susceptibility to tuberculosis. This study included 128 patients with TB (pulmonary and extrapulmonary TB) and 80 healthy subjects living in Istanbul, Turkey. Genetic polymorphisms were studied by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques at genomic DNA isolated from whole blood-EDTA. The present study results indicate that the genotype and allele frequencies for patient group (BB:22, Bb:53, bb:25; B allele:48%, b allele:52%) was significantly different from the control group (BB:6, Bb:48, bb: 46; B allele:30 b allele:70) due to an overrepresentation of B allele (P: 0.000 OR: 1.61 95% 1.23-2.11). However there were no significant differences in distribution of allele/genotype frequencies of FokI, TaqI variants between TB and healthy controls. This study results suggest that BsmI variant of VDR gene may play an important role in susceptibility to tuberculosis.
Synovial sarcoma (SS) is a malignant mesenchymal tumor, which comprises 5%-10% of all the sarcomas. There is insufficient information on prognostic factors and salvage treatments of advanced SS. In ...this study, we aimed to further clarify the clinicopathological features, prognostic factors, and treatment modalities in advanced SS.
A total of 45 SS patients followed up between 2001 and 2015 at our cancer institute, Department of Medical Oncology, were retrospectively evaluated. Eleven patients were initially metastatic, and remaining patients developed metastasis or became inoperable due to locally advanced disease. Overall survival was evaluated by Kaplan-Meier analysis.
The median age of patients was 37 (17-70) years and 60% (n = 26) of them were female. SS was most commonly localized in the lower extremity and abdomen-pelvis (29% and 29%, respectively). Median follow-up time was 33 (6-175) months. Patients were treated with a median of two (1-5) line chemotherapies at metastatic stage. Ifosfamide plus adriamycin (IMA) (49%, n = 22) and cisplatin-etoposide (13%, n = 6) were the most often used chemotherapy regimen as first line in metastatic stage. Partial response was obtained in 32% of the patients treated with IMA chemotherapy. Furthermore, median progression-free survival was 6 (1-123) months. Median survival of metastatic stage at diagnosis or in follow-up was 21 months (14-27) and 21 (12-29) months (P = 0.53), respectively. Most metastatic locations were lung (75%) and bone. Factors influencing survival at metastatic stage were evaluated; statistically significant longer survival was observed in patients with lung metastasis, primary tumor size smaller than 10 cm, patients who underwent surgery for the metastasis, and development-to-metastasis period longer than 12 months.
Median survival of patients in metastatic stage SS was 21 months. Lung was the most common metastatic site.
Recurrent pregnancy loss (RPL) is defined as three or more pregnancy losses before 20 weeks. RPL is a multifactorial condition with several etiologic factors including genetic abnormalities of the ...parents, anatomical, endocrinological, hematologic and immunologic abnormalities, infections, nutritional and environmental factors. The causes of pregnancy loss in about half of the women with RPL even after extensive investigations remain unknown. We analyzed IL-6 -174 G/C, -572 G/C, -597 G/A, -1363 G/T, -2954 G/C promoter region polymorphisms in 113 RPL patients and 113 healthy subjects by using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay. The -174G/C genotypic and -174C allelic frequency and the -2954G/C genotypic and -2954C allelic frequency of IL-6 was higher in RPL patients than healthy controls and a significant association was found between RPL and -174G/C, -2954G/C polymorphisms (p < 0.0001, OR: 0.28, 95% CI: 0.15-0.51, p < 0.034, OR: 0.16, 95% CI: 0.01-1.12 respectively). We found remarkably similar frequencies in RPL patients compared to controls for IL-6 -572G/C,-597G/A and -1363G/T genotypes/alleles and no association was observed between RPL and these polymorphisms. Our study supported that IL-6 -174G/C and -2954G/C polymorphisms were associated with an increased risk of RPL in Turkish patients (Tab. 3, Ref. 24).
Abstract Objective Urethrocutaneous fistula is the most common complication of hypospadias repair. Tubularized incised plate urethroplasty (TIPU) has been used for the management of distal fistulas. ...This study reports the usage of TIPU in the treatment of large penile fistulas. Materials and methods Between April 2002 and September 2012, 15 patients with large penile fistulas who were managed with TIPU were included in the study. The fistulas were sited along the penile shaft from proximal to distal penile localization. Glanular and coronal fistulas were excluded. The surgical technique was completed according to the standard TIPU technique. The surrounding scar tissue of the fistula was circumferentially excised, and the urethral plate at the level of the fistula was incised to provide performance of loose urethral tubularization. A urethral stent was kept for 5–7 days. Results The mean age of the patients was 7.3 ± 3.1 years. Primary operation of these patients was tubularized preputial island flap ( n = 6), on-lay preputial island flap ( n = 4), and TIPU ( n = 5). The sites of the hypospadias fistulas were as follows; penoscrotal (three), mid-penile (eight) and subcoronal (four). Fistulas recurred in two patients after fistula repair. The postoperative follow up of the patients was 12.4 ± 7.7 months. Conclusion TIPU may be used safely for the treatment of fistulas after hypospadias repair.
This study examines the levels of oxidative damage in patients with retinopathy of prematurity (ROP).
Fifty patients were recruited with a birthweight below 1500 g or gestational age below 32 weeks. ...The cases were classified into those who developed ROP (n=25) and those without ROP (n=25). The authors obtained blood and urine samples from each infant, for measuring 8-hydroxy 2-deoxyguanosine (8-OHdG) and malondialdehyde (MDA) levels, at the time of the first examination at 4-6 postnatal weeks.
A significant difference was observed in leukocyte and urine 8-OHdG levels in patients with ROP compared to those without ROP (p<0.001 for both). Similarly, a significant difference was observed in plasma and urine MDA levels in patients with ROP compared to those without ROP (p<0.001 for both). In addition, significant correlations were found between levels of 8-OHdG in leukocyte DNA and plasma MDA (r=0.859, p<0.001), and between levels of urine 8-OHdG excretion and urine MDA (r=0.563, p<0.001).
8-OHdG in leukocyte DNA and urine levels in premature infants can be useful as an indicator for ROP screening.
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