Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.

BACKGROUND: Polycystic ovary syndrome (PCOS), whose genetic basis is not completely well understood, is the most common endocrine disorder in women and it typically develops during adolescence. The aim of this study is to investigate the possible association between single nucleotide polymorphisms (SNPs) of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and PCOS in adolescent girls. METHODS: DNA samples from forty-four adolescent girls with PCOS and 50 healthy controls were analyzed by PCR-RFLP and direct DNA sequencing to determine the genotypic frequency of 17 different polymorphic loci on the FSHR (A307T, N680S), CYP17 (-34 T/C), CYP1A1 (T6235C), CAPN10 (44, 43, 19, 63), INSR (exon 17 C/T), SERPINE1 (4G/5G) genes. Genotyping of exon 12 (six polymorphisms) and intron 12 (one polymorphism) of INSR gene by direct DNA sequencing was performed for the first time in this study. RESULTS: No significant differences were observed in the genotype and allele distributions of above mentioned polymorphisms between cases and control groups. CONCLUSION: Our data does not support an association between SNPs of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and susceptibility to PCOS or related traits in Turkish adolescent girls.

[Allogeneic blood transfusion policy in orthopedic surgery]. / Ortopedik cerrahide allojeneik kan transfüzyon politikasi.

OBJECTIVES: This retrospective study was performed to evaluate transfusions in orthopedic surgery and, in the light of our successful practice, to contribute to the development of appropriate transfusion policies in Turkey. METHODS: In this study 1,811 female patients who underwent orthopedic elective or emergency surgery from January 1997 to December 1999 (group 1) and from January 2000 to December 2002 (group 2) were retrospectively evaluated with respect to ordered and transfused blood units. Autologous blood transfusions were not included. Group 1 consisted of 990 patients (mean age 50.4 years); group 2 consisted of 821 patients (mean age 53.3 years). Maximum surgical blood order schedule (MSBOS) ratios and preference for red blood cell transfusions were determined. Perioperative target hemoglobin level was 10 gr /dL in both groups. In group 2, allogeneic blood transfusions were performed according to the principles established in January 2000, which aimed (i) to more precisely estimate blood loss during surgical procedures and to prevent inappropriate use of blood products; (ii) to reduce the frequency of "standard one unit transfusion" through administration of crystalloids and colloids to the extent of complete elimination of transfusions; and (iii) to use blood components (erythrocyte suspensions) instead of whole blood. RESULTS: In both groups, the MSBOS ratios were below 2, being 1.83 in group 1, and 1.59 in group 2. The medians of requested and transfused blood units were 2 and 1 in group 1, and 3 and 2 in group 2, respectively, resulting in statistically significant differences (p<0.05). The "standard one unit transfusion" rate was 28.7% in group 1, and 18.9% in group 2. Preferences for red blood cell transfusions showed statistically significant increases over the consecutive years. The use of erythrocyte suspensions was found as 29.2% in group 1, and 95% in group 2. CONCLUSION: Our data demonstrated that the transfusion policy established for orthopedic surgical procedures at our center resulted in successful applications thanks to a good cooperation between relevant departments and achieved the level of international standards.