Some selected oxidative stress parameters were measured in 56 Fanconi anaemia (FA) patients (42 untransplanted and 14 transplanted), 54 FA heterozygotes (parents) and 173 controls. Untransplanted FA patients showed a highly significant increase in leukocyte 8-hydroxy-2'-deoxyguanosine (8-OHdG) (P = 0.00003) and a borderline increase (P = 0.076) in urinary levels of 8-OHdG versus child controls. These increases were more pronounced in female FA patients (P = 0.00005 for leukocyte 8-OHdG and P = 0.021 for urinary 8-OHdG). Female FA patients also displayed a highly significant excess of spontaneous chromosomal breaks versus male patients (P = 0.00026), in the same female:male ratio ( approximately 1.4) as detected for both leukocyte and urine 8-OHdG levels. Plasma methylglyoxal (MGlx) levels were increased in untransplanted FA patients versus child controls (P = 0.032). The increases in leukocyte and urinary 8-OHdG and in MGlx levels were detected in young FA patients (< or =15 years), whereas patients aged 16-29 years failed to display any differences versus controls in the same age group. A significant increase in oxidized:reduced glutathione (GSSG:GSH) ratio was observed (P = 0.046) in the FA patients aged < or =15 years, whereas those aged 16-29 years, both untransplanted and transplanted, displayed a decrease (P = 0.06) in the GSSG:GSH ratio versus the controls of the respective age groups. No significant changes were detected in plasma levels of vitamin C, vitamin E or uric acid. Transplanted FA patients showed lesser alterations in leukocyte 8-OHdG and in GSSG:GSH ratio versus untransplanted patients. The parents of FA patients displayed a significant increase in plasma MGlx levels (P = 0.0014) versus adult controls. The results suggest a gender- and age-related modulation of oxidative stress in FA patients. The observed increase in urinary 8-OHdG in untransplanted FA patients suggests a proficient removal of oxidized DNA bases.

In this study, blood samples were taken from 200 patients with childhood acute leukaemias, including acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML), and from 100 healthy volunteers (controls). The frequency of the human leucocyte antigen (HLA)-DRB1*04 allele was significantly higher, and the frequencies of the HLA-A23 and HLA-B7 antigens were significantly lower, in patients with ALL compared with controls. Among patients with AML, the frequency of the HLA-B49 antigen and the HLA-DRB1*15 allele were significantly higher, whereas the frequencies of the HLA-A11 and HLA-B38 antigens were significantly lower compared with controls. The frequency of the HLA-DRB1*04 allele was also significantly higher in male patients with ALL and AML, whereas the HLA-DRB1*13 allele was found significantly less frequently in male AML and female ALL patients than in controls. To date, this is the only study to evaluate the associations between HLA molecules and leukaemia in a Turkish population with acute childhood leukaemia.

Growth and sexual development were evaluated in 54 (29 female, 25 male) patients with beta-thalassemia major aged 2.7-21.3 years (mean 10.4 yr). Mean pretransfusion hemoglobin concentration was 7.8 +/- 0.7 mg/dl. All patients except 6 were on desferrioxamine. Age of starting of therapy was 6.8 +/- 3.9 years. Mean SDS values for height, weight and sitting height were significantly lower (p < 0.001) than control cases of similar age. Height deficiency exceeded -2 SD in 18 patients and a delay in bone age (> 2 SD below the mean) was observed in 36 out of 54 patients. Among 11 patients over 14 years, 9 showed delay in onset or progression of puberty and 10 had growth retardation. Height SDS were negatively correlated with chronological age, age of onset of desferrioxamine and present serum ferritin levels (p < 0.001). These findings indicate that abnormal growth and delayed puberty are frequent in transfusion dependent thalassemics. These can be partly overcome by early onset of chelating therapy.

The frequency of homozygosity for NOQ1 C609T polymorphism was 3.5% in the healthy control population and 2.5% in pediatric acute leukemia. The NQO1 C609T allele frequency was not statistically different in the children with acute leukemia in comparison to the controls (odds ratio (OR), 0.76; 95% confidence interval (CI), 0.58-1.01; P = 0.06). The distribution of NQO1 genotypes among children with acute leukemia was not statistically different from the control group (P = 0.13). These findings do not support the role of NQO1 C609T polymorphism in the etiology of de novo pediatric acute leukemia.

were excluded. Demographic, clinical and surgico-pathological data were analysed. Results: 69 patients underwent excision of SCLN, of which 4 were upfront and 65 were delayed, after mean 4.5 (range 2-10) cycles of neoadjuvant chemotherapy. All 4 upfront excisions yielded mean 2.8 (range 1-5) metastatic lymph nodes. 59 (90.8%) patients with delayed excisions yielded mean 4.5 (range 1-20) metastatic lymph nodes, while 6(9.2%) patients yielded no tumor infiltration in mean 8 (range 3-27) lymph nodes. Initial diagnostic tests that detected SCLN metastases included PET-CT(n=50), MIBG(n=5), CT(n=17) and biopsy(n=9). 8 of 65 Stage 4 patients had SCLN-only metastases. Left-sided SCLN