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    Hyperimmunoglobulin D Syndrome: Case Report
    (Turkish League Against Rheumatism, 2015) Sen, Hacer; Sılan, Fatma; Binnetoglu, Emine; Gunes, Fahri; Akurut, Cisem; Uludağ, Ahmet; Özdemir, Öztürk
    Hyperimmunoglobulin D syndrome is a rare autosomal recessive inherited disease characterized by fever attacks, which may be accompanied by chills, headache, abdominal pain, and cervical lymphadenopathy. Typical hyperimmunoglobulin D syndrome patients start to show symptoms in the first years of life. Diagnosis is based on the presence of symptoms with reduction in the enzyme activity of mevalonate kinase or by detecting the mutation in the mevalonate kinase gene that causes the disease. In this article, we present a 21-year-old female patient who started having fever attacks in early childhood and was diagnosed with familial Mediterranean fever; however, in spite of treatment, whose complaints did not resolve. The genetic analysis, which detected homozygote mevalonate kinase gene mutation and resulted in the hyperimmunoglobulin D syndrome diagnosis, is presented with an accompanying discussion of the literature.
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    Multiple Inherited Thrombophilic Gene Polymorphisms in Spontaneous Abortions in Turkish Population
    (Cellular & Molecular Biology Research Center, 2015) Yalcintepe, Sinem; Özdemir, Öztürk; Hacivelioglu, Servet Ozden; Akurut, Cisem; Koc, Evrim; Uludağ, Ahmet; Cosar, Emine
    The aim of this study was to investigate the possible role of multiple inherited thrombophilic gene variations in women with unexplained spontaneous abortions. For this purpose, the Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), PAI-1 4G/5G (rs1799889), ACE I/D (rs1799752), eNOS E298D (rs1799983), and Apo E E2/E3/E4 (rs429358) polymorphisms were genotyped and correlated in spontaneously aborted fetal materials, their mothers and fertile women. Twenty three abortion materials, 22 women with >= 1 unexplained fetal loss, and 22 control subjects with at least two healthy term infants as a control group were studied. Target SNPs for each gene were analyzed by real time-PCR technique after genomic DNA isolation from maternal blood-EDTA, control group blood-EDTA and spontaneously aborted fetal tissues. Some cases had a single thrombophilic polymorphism, but the rest of the patients and fetal materials had combined thrombophilic polymorphisms. The PAI-1 4G/5G+4G/4G (P=0.0017), 4G/4G (P=0.0253), eNOS 894GT+894TT (P=0.0011) genotypes and T allele (P=0.0185), Apo E E3/E4+E3/E2+E2/E4 (P<0.0001) genotypes, E2 (P<0.0001) and E4 (P<0.0001) alleles were higher in spontaneously aborted fetal materials when compared to their mothers and control group. The Factor V Leiden rs6025, Prothrombin G20210A, MTHFR C677T, ACE I/D genotypes were different for each group but not statistically significant due to relatively small size of the samples (P>0.05). Our results indicated that combined thrombophilic gene variations may be associated with increased risk for spontaneous abortions and results need to be confirmed by larger sample size.
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    Relationship Between Response to Colchicine Treatment and MDR1 Polymorphism in Familial Mediterranean Fever Patients
    (Mary Ann Liebert, Inc, 2014) Uludağ, Ahmet; Sılan, Coşkun; Atik, Sinem; Akurut, Cisem; Uludag, Aysegul; Sılan, Fatma; Özdemir, Öztürk
    Aim: Investigate the relationship between MDR1 C3435T polymorphism and colchicine response in Familial Mediterranean fever (FMF) patients. Materials and Methods: Patients (n=50) who received colchicine regularly, were willing to participate in the study, and attended control visits were included in the study. MDR1 C3435T genotype was defined by the real-time polymerase chain reaction method. Patients were divided into three groups. Patients, who recovered from episodes with standard colchicine treatment, and had no attack in the last 1 year were accepted as complete; patients whose episode number and intensity were decreased with the ongoing standard treatment as partial; and patients whose episodes were not decreased despite the standard treatment as nonresponders. Results:MDR1 C and T allele frequencies of FMF patients with colchicine responses of complete, partial, and nonresponders were C=0.75 and T=0.25; C=0.56 and T=0.44; and C=0.50 and T=0.50, respectively. When complete responding patients were compared with the partial responding patients, subjects with CT genotype had 6.18 times more increased risk than with CC genotype (OR=6.18; p=0.015). Poor response risk of subjects with the T allele was increased 2.45 times more when compared with the C allele (p=0.03). Conclusion:MDR1 gene C3435T polymorphism enacts an important role on colchicine response in FMF; good response to colchicine treatment was related to the C allele, whereas poor response was related to the T allele in FMF.
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    The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma
    (2019) Akurut, Cisem; Sılan, Fatma; Yalçıntepe, Sinem; Özdemir, Öztürk
    Introduction: The non-invasive prenatal diagnosis of the fetus RhD genotype in RhD incompatibility has a crucial role in the prevention ofincreased anti-D immunoglobulin therapy for haemolytic diseases in pregnant women carrying RhD negative fetus. It was aimed to detect fetalRhD genotyping by using maternal circulating cell-free DNA in the current study.Methods: Maternal blood samples were collected in different trimester of pregnancies (12-40 weeks) in 12 D-negative mothers. Cell-free fetalDNA was extracted from 2 ml of maternal plasma by an conventional DNA isolation technique (Qiagen, Hilden, Germany) and real-time PCRwas performed for genotyping target RhD exons 7 and 10 and GLO genes. Postnatal serological evaluations were performed and the results wereconfirmed.Results: 6 cases (50 %) were determined D positive and 6 cases (50 %) were determined D negative. All results were also confirmed after birthserologically.Conclusions: In conclusion, the current results showed us the non-invasive target RhD genotyping from cell free fetal DNA from maternalplasma samples have a diagnostic accuracy in RhD incompatibility pregnancies.