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Objective: To evaluate the association between radiographic features (osteophytes, disc space narrowing) in patients with lumbar spine degenerative changes and body mass index (BMI), with quantitative methods.

Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

Aim: A -37 days male infant with Down syndrome exhibited an autosomal translocation t(1;17) in addition to trisomy 21. Case:A 37 days male infant with Down syndrome was referred to Dicle University, Medical Faculty, Department of Medical Biology for karyotype analysis. On detailed clinical examination of the case was performed in the department of pediatry. Cytogenetic analysis was performed by standart peripheral blood culture and GTG method by using phytohemagglutinin-stimulated lymphocyte.The chromosomal constitution of the patient was found to be 47, XX, t(1;17), +21.His parents showed a normal chromosome complement. The translocation must have been an apparently “balanced” one as the proband presented with typical features of Down syndrome alone.Conclusion: Prenatal diagnosis should be offered even if there is no other important finding in the advanced maternal age, on prenatal consultation

Background: The aim of this study is to evaluate a man-like patient of 68-year-old who was referred to our department with history of hermaphroditism. Case: A 65 years old patient was referred to Dicle University Medical Faculty Department of Medical Biology for karyotype analysis. On systemic, gynecologic and ultrasound examination of the patient was detected 150 cm height, 55 kg weight, female phenotype, female type breasts and hair, approximately 3,5 cm clitoris, normal labium major, fused labium minor, 0.5x1.0 cm opening and 9 cm depth of vagina, 60x37x30 cm size of uterus and 20x15 mm each ovaries. The patient had menstruated regularly during reproductive period from menarche to menopause. The karyotype of patient was performed in peripheric blood sample. The chromosomal constitution of the patient whose Barr Body was positive, was found to be 46,XX. Molecular PCR (polymerase chain reaction) technique for detection of SRY (specific region of Y chromosome) sequences is used to determine whether the SRY gene is present in the patient. The SRY gene in this case was negative. Conclusion: In spite offemale karyotype and phenotype the patient lived as a male until 65 years. This case has ignored due to social and economic conditions, therefore we think that the patient can be considered for publication

Cystathionine β-synthase (CBS) mediates conversion of homocysteine to cystathionine and deficiency in enzyme activity may be lead to hyperhomocysteinemia/homocystinuria, which are often associated with Down Syndrome (DS). A large number of polymorphisms have been reported in the CBS gene, some of which impair its activity and among these, a T833C polymorphism in cis with a 68 bp insertion at 844 in the exon 8 is found to be associated with mild hyperhomocysteinemia in different ethnic groups. Our aim in the present study is to investigate the association between T833C/844ins68 polymorphism and DS. Methods: Fifty-seven DS cases parents (mothers) were recruited after psychometric evaluation. Peripheral blood was collected after obtaining informed written consent. The T833C/844ins68 polymorphism was investigated by PCR amplification of genomic DNA Results: After PCR Analysis 15 samples were found to have +/- genotype while 42 samples were found to have -/- genotype for CBS 844ins68 polymorphisms. Conclusion: This is the first molecular genetic study of CBS gene dealing with T833C/844ins68 double mutation in DS subjects in our region. The next step is to extended number of cases and to use more controls for T833C/844INS68 polymorphism.

Objectives: The aim of this study was to evaluate of fetal chromosome analysis in amniocentesis and fetal blood sampling cases. Method: We analysis of 649 cases between January 2007- March 2009 in Dicle University Medical Faculty Department of Genetic. The study was included 552 amniocentesis and 97 fetal blood sampling cases. Lymphocyte culture prepared in duplicate and totally ten slides were prepared for each sample. One of the ten slides was stained with direct Giemsa staining and the others were stained with Giemsa Banding Technique (GTG Banding). A total of 6490 (649x10) slides were evaluated for diagnosis. Results: A total of 649 samples were analyzed for chromosome aberrations and 267 (41%) cases had 46 XX, 257 (40 %) cases had 46, XY normal karyotype. Of the cases, 111 (17%) were detected to have abnormality. Due to cells culture failure, the outcomes of 14 (2%) cases were not obtained (10 amniocentesis and 4 fetal blood sampling). The indications of karyotype analysis were 36% with higher triple test risk, 28% with pathologic ultrasound findings, 15% with higher double test risk, 13% with advanced maternal age, 4% with familial diseases history, 2.5% with parental anxiety and 1.5% with bad obstetric anamnesis, respectively. We have no false positive and false negative results in our study. Conclusions: In our study, chromosome aberrations rate (111 (17%)) was found higher than literature, and the most indication was found higher triple tests. We suggested that karyotype analysis should be considered in all high risk patients.

Objective: To determine plasma leptin level in ankylosing spondylitis (AS) and its correlation with disease activity measurements. To examine the effects of different treatment modalities on leptin levels.

We aimed to investigate whether CDT and 25-hydroxyvitamin D (25OHD) level are predictors for sun exposure and walking duration, and aimed to investigate whether CDT is reliable in low educated (LE) elderly. Material and Methods: A total of 185 LE patients without dementia above the age of 65 who had applied to internal medicine clinic were included in the study. The patients’ demographic data, sun exposure, walking duration, a history of coronary artery disease (CAD) and the number of falls were recorded. Clock drawing was measured using Manos scoring system. Results: The study population included 127 (68.6%) males with a mean age of 73 ± 6 years and 58 (31.4%) females with a mean age of 70 ± 5 years. According to Manos scoring system a total of 90 (48.6%) subjects had a CDT score of 0, 70 (37.9%) subjects had a CDT score of 1-9 and 25 (13.5%) subjects had a CDT score of 10. The mean vitamin D level of the patients was 18.4 ± 7.3 ng/mL. Vitamin D levels and CDT scores were predictive for sun exposure, duration of walking, number of falls and CAD. Conclusion: CDT scores of LE subjects were unreliable to demonstrate cognitive functions. This study has shown that vitamin D levels to be more potent predictor than CDT scores to demonstrate sun exposure, walking duration, numbers of falls and the incidence of CAD in LE subjects., Amaç: Saat çizme testi (SÇT) kognitif fonksiyonları değerlendirmede kullanılan kısa, pratik ve güvenli bir testtir. Biz SÇT ile 25-hidroksivitamin D seviyesinin güneşe maruziyet ve yürüme süresi için prediktif olup olmadığını ve SÇT’nin düşük eğitim düzeyli (DE) yaşlılarda güvenilir olup olmadığını araştırmayı amaçladık.Materyal ve Metod: İç hastalıkları kliniğine başvuran 65 yaş üzeri demansı olmayan 185 DE hasta bu çalışmaya dahil edildi. Hastaların demografik verileri, güneş maruziyetleri, yürüme süreleri, koroner kalp hastalığı (KKH) öyküsü ve düşme sayısı kaydedildi. SÇT, Manos skorlama sistemi kullanılarak ölçüldü. Bulgular: Çalışma populasyonu yaş ortalaması 73 ± 6 yıl olan 127 (%68.6) erkek ve yaş ortalaması 70 ± 5 yıl olan 58 (%31.4) kadın hastayı içeriyordu. Manos skorlama sistemine göre, 90 (%48.6) kişinin CDT skoru 0, 70 (%37.9) kişinin CDT skoru 1-9 arası ve 25 (%13.5) kişinin CDT skoru 10 idi. Hastaların ortalama D vitamin düzeyi 18.4 ± 7.3 ng/mL idi. D vitamin seviyesi ve SÇT skorları güneş maruziyeti, yürüme süresi ve düşme sayısı ve KKH için tahmin edici değerdeydi.Sonuç: DE kişilerin SÇT skorları bilinç fonksiyonlarını göstermede güvenilir değildir. Bu çalışma gösterdi ki DE bireylerde D vitamin seviyeleri güneş maruziyeti, yürüme süresi, düşme sayısı ve KKH sıklığını göstermede SÇT skorundan daha güçlüdür.