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The role of methylenetetrahydrofolate reductase (MTHFR C677T), glutathione S-transferases (GSTM1 and GSTT1 null, GSTP1 Ile105Val), and cytochromes p450 (CYP1A1*2A) genotypes in the etiology of childhood leukemia was simultaneously investigated. 144 Turkish children with acute lymphoblastic leukemia (ALL) and 33 with acute nonlymphoblastic leukemia (ANLL)(More)
This report mainly presents the clinical and laboratory findings in a group of 15 primary hemophagocytic lymphohistiocytosis patients with central nervous system involvement (group 1) and compares some of the findings with those of 13 hemophagocytic lymphohistiocytosis patients without central nervous system involvement (group 2). Statistical analysis(More)
Fanconi anemia (FA) is a genetically very heterogeneous disease making routine detection of carriers quite difficult by molecular analysis. Finding alternative method has vital importance especially in populations where prevalence of the disease is quite high because of consanguineous marriages. The aim of this study was to find a considerably reliable(More)
Genotype/allele distributions of leptin promoter G-2548A polymorphism, serum leptin and insulin levels and body weight were not significantly different between 72 children (39 male/33 female; age range 1.08-16, median 6 years) with acute leukemia (56 acute lymphoblastic leukemia [ALL]/16 acute non-lymphoblastic leukemia [ANLL]) at diagnosis and 70 age- and(More)
A case control study was conducted to test the hypothesis that plasminogen activator inhibitor type-1 (PAI-1) 4G/5G gene polymorphism confers an increased risk for myocardial infarction (MI) in patients with known coronary atherosclerosis. One hundred fifty-six consecutive patients who presented with acute MI and 111 stable coronary artery disease (SCAD)(More)
BACKGROUND Recurrent macrophage activation syndrome (MAS) is rarely reported. AIM To describe recurrent MAS in a 2.5-year-old girl with systemic juvenile idiopathic arthritis and heterozygous perforin mutation, which may have a role in the patient's first recurrence despite use of the HLH-2004 treatment protocol. OBSERVATIONS In the presented case, MAS(More)
The involvement of the central nervous system (CNS) in familial hemophagocytic lymphohistiocytosis (FHL) has known to be limited to the brain, brain stem, and cerebellum. Herein, we report an 11-year-old boy who presented with neurological symptoms and was diagnosed as FHL by molecular diagnosis. The hemophagocytic lesions in the CNS were shown to extend to(More)
Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Recently, the structure and location of the P5N-I gene have been published. This paper presents the results of a study(More)
Epidemiological data show that besides the high prevalence of anxiety and depressive disorders in the general population, comorbidity between the two is a very frequent phenomenon. There is a variety in the clinical presentation of comorbidity. Comorbidity may be present as the full clinical picture of the two syndromes or as limited symptoms from both(More)