Polymorphisms of the DNA repair gene XPD (751) and XRCC1 (399) correlates with risk of hematological malignancies in Turkish population

Polymorphisms that occur in DNA repair genes affect DNA repair capacity and constitute a risk factor in hematological malignancies. This study, was aimed to investigate whether xeroderma pigmentosum complementation group D (XPD) and x-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms were involved in the susceptibility to different hematological malignancies. The genotype and allele frequencies were obtained by analyzing XPD gene codon 751 in a total of 80 patients and XRCC1 gene codon 399 polymorphism in a total of 100 patients with hematological malignancies and 100 healthy controls. Mean age was 45 (range: 16 to 75) and 46 (range: 16 to 82) in the patients groups and 39.5 (range: 18 to 67) in the control group, respectively. Additionally, distribution of genotypes and alleles were compared in the patient and control groups. In the comparison of genotype and allele frequencies in hematological malignancies and healthy controls, XPD-751Gln variant was arranged and compared according to age and sex and Gln/Gln genotype was reported to be a protector, which was decreased significantly in acute myeloblastic leukemia (AML) (p = 0.042). No relationship was determined between allele frequencies (p = 0.054). In XRCC1-399, it was shown that Gln/Gln genotype was decreased significantly in AML (p = 0.014) plus all hematological malignancies (p = 0.033) and that Gln allele was present at a lower ratio in AML (p = 0.046). The distribution of polymorphism of both genes was not statistically significant in terms of age and sex. In leukemia with early relapse, XPD 751 Lys/Lys genotype was determined at a statistically higher ratio (p = 0.042). In the evaluation of both genes together, a decrease was noted in Gln/Gln + Lys/Gln haplotype frequency in hematological malignancies (p = 0.048). In this study, it was demonstrated that a decrease in Gln/Gln genotype and Gln allele acted as a protector in XPD codon 751 and XRCC1 codon 399 polymorphisms in acute myeloblastic leukemia (AML) and that an increase in Lys/Lys genotype in acute leukemia was associated with early relapse

Frequency and distribution of sister chromatid exchanges in cultured human lymphocytes

PubMed ID: 7112694The frequency and distribution among chromosomes of sister chromatid exchanges (SCE) was examined in a population of 20 normal children (10 girls and 10 boys) and a comparison made among the subjects. The frequency of exchanges generally increased with chromosome length. However, chromosomes 1 and 2 and the C-X group in the girls and the C-X group in the boys showed more exchanges than expected, while the D, E, F and G or G-Y groups showed fewer than expected in both boys and girls

Hip configuration in children with Down's syndrome and its comparison with those of normals

In 57 cases with Down's syndrome and in 90 normal children the hip radiograms are studied. The measurements denoting the characteristics of hip and ilium configurations and T1, T2 angles (the ischio-iliac and ischio-acetabular angles) are measured and compared in normal children and in Down's syndrome. Statistical analysis of the results have shown significant differences in the ratio of the height of the ilium to its width and the ratio of the farthest distance between the two iliac cristae to the farthest distance between the two corpus-ischii. This indicates that there is a uniqueness in the hip configuration in the cases with Down's syndrome. The significant differences between the T1 and T2 angles in cases with Down's syndrome from the same angles in normal subjects confirm this. The value of each criteria according to the age is shown as a separate curve for normal children and children with Down's syndrome

Popliteal pterygium sendromu: Olgu sunumu

Popliteal pterygium syndrome is characterised by pterygium in the popliteal fossa, face and genital abnormalities. Here we describe an 14 year-old male patient born to a nonconsanguineous parents, with synophrys, ankyloblepharone filiforme, operated cleft lip and palate, congenital sinus on the lower lip, skin syndactyly in the hands, skin lesions around the nails, hypospadias, minimal pterygium in the left popliteal fossa.Popliteal pterygium sendromu (PPS) popliteal fossa'da pterygia, yüzde ve genital bölgede anomalilerin olduğu bir sendromdur. Burada, akrabalık olmayan bir evlilikten doğan, sinofriz, göz kapaklarında ankiloblefaron filiforme, öpere yarık dudak ve damak, alt dudakta konjenital sinüs, elde deri sindaktilisi, elde tırnak etrafında deri lezyonları, öpere hipospadias, solda minimal popliteal pterygiumu olan 14 yaş 3 aylık bir erkek olgu sunulmuştur

Çocukluk yaş grubunda 10 kist hidatik olgusunun değerlendirilmesi

Ten children (two females and 8 males) with hydatid cyst disease were treated at the Ege University P;eacute;diatrie Clinic in the 1990-1995 period. the ages of children ranged from three to 14 years. All of the patients had lung involvement. the most frequent symptoms in the patients were cough, chest pain, haemopthysis, fever, dispnea and vomitting of cyst fluid. ELISA, IHAT, IFAT which are s;eacute;rologie tests for diagnosis were found positive in six out of 10 patients. These tests gave false negative results in 33 % of cases. It is concluded that radiological methods are necessary for definite diagnosis. All of the patients underwent surgical treatment. Three of them were treated with albendazole in addition to surgery with successful results.1990-1995 yılları arasında Ege Üniversitesi Pediyatri Kliniği'nde akciğer kist hidatiği nedeni ile yaşları üç ile 14 yaş arasında değişen 10 hasta (iki kız ve sekiz erkek) tedavi edildi. Bu hastaların tümünde akciğer tutulumu vardı. Hastalarda semptomlar en sık olarak öksürük, göğüs ağrısı, hemoptizi, ateş, dispne ve kist içeriğinin kusulması idi. Tanıda kullanılan serolojik testler olan ELI S A, l H AT ve I FAT gibi testlerden en az biri 10 olgunun altısında pozitif bulundu. Radyografik incelemenin en kesin tanı koydurucu yöntem olduğu gözlendi. Hastların tümüne cerrahi tedavi uygulandı. Üç tanesine cerrahiye ek olarak yapı lan albendazol tedavisi de başarılı oldu

Waardenburg anophthalmia syndrome: Report and review [1]

PubMed ID: 10607960[No abstract available