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In this study, we aimed to investigate the structural changes seen in the endometrium in experimental PCOS rat model and the effects of vitamin D treatment on these changes at immunohistochemical and electron microscopic levels. 24 prepubertal female rats were divided into three groups. Two groups were injected with dehydroepiandrosterone and one of them was treated with 1,25(OH)2 D3 at the same time. The control group was injected with sesame oil. At the end of the 28th day, the blood samples were collected. Uterus tissues were prepared for light and electron microscopic examinations. Epithelial, stromal and endometrial thickness measurements were investigated. Immunohistochemical staining was applied against caspase-3 and Ki-67. Serum AMH and estradiol levels were higher in PCOS group compared to the control group. Serum progesterone levels were similar in all groups. Endometrial, epithelial and stromal thickness measurements were increased in PCOS group compared to the control group, and decreased in the vitamin D treatment group compared to the PCOS group. Light and electron microscopic results of PCOS group showed an increase in apoptosis and proliferation. In the PCOS group, immunohistochemical staining of caspase-3 and Ki-67 were found to be higher than in the control group, but stainings were decreased with vitamin D treatment compared to PCOS group. Structural changes observed in endometrium may be related to implantation problems seen in patients with PCOS. Our studies suggest that vitamin D therapy may be beneficial in these patients.

TEZ8901 Tez (Doktora) -- Çukurova Üniversitesi, Adana, 2010. Kaynakça (s. 86-94) var. xii, 95 s. : res. ; 29 cm. The discovery of cell free fetal DNA in the maternal circulation has driven developments in noninvasive prenatal diagnosis in the past decade. Detection of paternally derived alleles in cell free fetal DNA is becoming well established. Analysis of fetal DNA from maternal plasma by new techniques such HRM analysis offers great potential for noninvasive prenatal diagnosis. We examined 104 maternal plasma samples from 57 pregnant women carrier of sickle cell anemia, 32 pregnant women carrier of beta thalassemia and 15 healthy control subjects. Fetal DNA was extracted from 1 mL plasma samples. To detect male fetuses SRY and DYS14 markers specific to the Y chromosome analyzed by nested PCR and RT-PCR. DYS14 and beta globin were used for quantitation of fetal and total DNA levels respectively. Alternative to traditional methods in invasive prenatal diagnosis, we used HRM analysis for genotyping of fetal DNA in hemoglobinopathies. We detected Y chromosome specific DYS14 in maternal plasma of 100% women bearing male fetuses in early pregnancy. The value was 93.7% with SRY by nested PCR. The levels of total and fetal DNA increased with gestational age. We observed greater MoM values of fetal DNA in sickle cell anemia pregnancies compared to thalassemia and healthy groups. The MoM values were smaller in thalassemia pregnancies compared to other groups (p

Objectives: This study, detection of beta globin gene mutations in thalassemia major patients who migrated from Syria to Kahramanmaraş region were planned. Materials and methods: The study included 35 Syrian national beta thalassemia major patients. Beta globin gene mutations were detected by ARMS (Amplification Refractory Mutation System) method, RFLP (Restriction Fragment Length Polymorphism) method and DNA sequence analysis. Codon 15, codon 9/10, codon 5 and codon 8 mutations, which we could not detect with other methods in our study, were detected by sequence analysis. Results: In beta thalassemia major patients, 16 types of mutations were detected, the most common being IVS-I-110 (n = 8). Other mutations are according to frequency order IVS-II-745 (n = 3), codon 44 (n = 3), codon 15 (n = 3), IVS-I-110/IVS-I-1 (n = 3), codon 5 (n = 2), IVS-I-1 (n = 2), codon 8/IVS-II-1 (n = 2), codon 44/codon 15 (n = 2), IVS-II-1 (n = 1), codon 39 (n = 1), IVS-I-6/codon 5 (n = 1), codon 9/10 (n = 1), IVS-I-110/codon 39 (n = 1), IVS-I-5/IVS-II-1 (n = 1), codon 39/IVS-II-745 (n = 1). Conclusions: According to the results of our study beta-thalassemia mutations in Syrian immigrant groups show heterogeneity and mutation types of mutation map is similar to Turkey. The conclusion is to prevent families to have a second patient child by genetic counseling. Amaç: Bu çalışmada Kahramanmaraş ve yöresinde Suriye’den göç eden beta talasemi majörlü hastaların beta globin gen mutasyonlarının tespit edilmesi planlanmıştır. Gereç ve Yöntem: Çalışmaya 35 Suriye uyruklu beta talasemi majorlu hasta dahil edildi. Hastalardan tam kandan hemogram ve mutasyon çalışması için EDTA’lı tüplere kan alındı. Alınan kan örneklerinden ARMS (Amplification Refractory Mutation System) yöntemi, RFLP (Restriction Fragment Length Polimorfizm) yöntemi ve DNA dizi analizi ile beta globin gen mutasyonları saptandı. Çalışmamızda diğer yöntemlerle saptayamadığımız Kodon 15, Kodon 9/10, Kodon 5 ve Kodon 8 mutasyonları sekans yöntemi ile saptandı. Bulgular: Çalışmaya dahil edilen 35 hastanın 19’u (%54,3) erkek, 16’sı (%45,7) kız idi. Tüm hastaların yaşları ortalaması 9,48 ± 4,51 yıl (2 yaş-17 yaş) idi. Beta talasemi majörlü hastalarda en yaygın IVS-I-110 (n = 8) olmak üzere 16 çeşit mutasyon tespit edilmiştir. Diğer mutasyonlar sıklık sırasına göre şöyledir; IVS-II-745 (n = 3), kodon 44 (n = 3), kodon 15 (n = 3), IVS-I-110/IVS-I-1 (n = 3), kodon 5 (n = 2), IVS-I-1 (n = 2), kodon 8/IVS-II-1 (n = 2), kodon 44/kodon 15 (n = 2), IVS-II-1 (n = 1), kodon 39 (n = 1), IVS-I-6/kodon 5 (n = 1), kodon 9/10 (n = 1), IVS-I-110/kodon 39 (n = 1), IVS-I-5/IVS-II-1 (n = 1), kodon 39/IVS-II-745 (n = 1). Sonuç: Çalışmamızın sonuçlarına göre Suriye uyruklu göçmenlerde beta talasemi mutasyonları heterojenite göstermekte ve mutasyon çeşitleri Türkiye mutasyon haritasına benzemektedir. Sonuçlar ile amaçlanan, ailelere genetik danışmanlık verilerek ikinci bir hasta çocuk sahibi olmalarının önüne geçilmesidir. Kahramanmaras Sutcu Imam University

Anemia is a major cause of morbidity and mortality worldwide and can be defined as a decreased quantity of circulating red blood cells (RBCs). The epidemiological studies suggested that one-third of the world’s population is affected with anemia. Anemia is not a disease, but it is instead the sign of an underlying basic pathological process. However, the sign may function as a compass in the search for the cause. Therefore, the prediagnosis revealed by thorough investigation of this sign should be supported by laboratory parameters according to the underlying pathological process. We expect that this review will provide guidance to clinicians with findings and laboratory tests that can be followed from the initial stage in the anemia search.

Prenatal detection of the fetal RHD status in early stage of pregnancy is observed to be useful in the management of RhD incompatibility to identify fetuses at risk of hemolytic disease. The routine use of antenatal and postnatal anti-D prophylaxis reduces the incidence of hemolytic disease of the fetus and newborn. Cell-free fetal DNA in maternal plasma is in use today for routine genotyping fetal RHD status. Fetal RhD antigens can be detected in the blood of RhD-negative pregnant women using a nanopolymer-coated biosensor and could be an alternative method for medical diagnosis. We detected RhD-positive fetal antibodies with biosensor in maternal blood of RhD-negative mothers. The electrochemical measurements were performed on a PalmSens potentiostat and corundum ceramic-based screen-printed gold electrode. The demonstrated method has a different view for the detection of fetal RhD status in early pregnancy. The biosensor technology is useful and can be carried out rapidly in clinical diagnosis. Biosensors are also reproducible methods which give results quickly compared to noninvasive fetal RHD genotyping with real-time PCR-based techniques. We suggest that this method could become an alternative part of fetal RHD genotyping from maternal plasma as a prenatal screening in the management of RhD incompatibility.

Thalassemia is a significant health problem worldwide. There are two main classifications, α- and β-thalassemias, which are usually caused by the defective synthesis of the α-globin, and which are commonly caused by different mutations of the β-globin chain. Different hemoglobin mutations have been identified to date. Thalassemias can result in profound anemia from early life and, if not treated with regular blood transfusions, can lead to death in the first year. Prenatal diagnosis of thalassemia is the essential part of preventive medicine and is currently dependent on the use of invasive diagnostic tests within the first 2 months of pregnancy. These diagnostic techniques carry a small but significant risk of fetal loss up to 1%. Molecular diagnostic methods have been developed for genotyping thalassemias based on PCR techniques and high-throughput technologies. Noninvasive tests using cell-free DNA (cfDNA) from a maternal blood sample is also an alternative method, thus eliminating the risk of miscarriage. This chapter summarizes the current invasive approaches and the noninvasive methods using cell-free fetal DNA as new molecular diagnostic methods for genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling, and prenatal diagnosis are discussed.