Mine Özdil

ASSOCIATION BETWEEN GENETIC POLYMORPHISM IN DNA REPAIR GENES AND RISK OF B-CELL LYMPHOMA

Objectives: The authors evaluated the possible effect of DNA repair genes, XPD (Xeroderma pigmentosum group D) codon (312 and 751) and XRCC1 (X-ray repair cross-complementing group 1) codon (194 and 399) SNPs (single-nucleotide polymorphisms) on the risk of childhood B-cell lymphoma. Methods: The polymorphisms were analyzed in 33 patients with BL cases and in 52 healthy, age-matched controls using PCR-RFLP method. Results: The authors observed no association between variation in the XPD codon Asp312Asn, Lys751Gln, and XRCC1 codon Arg399Gln polymorphisms and B-cell lymphoma for any parameter. In contrast, tryptophan allele frequency in control and patient groups was 0.10 and 0.03 respectively (p = .04). The frequency of XRCC1 194Arg/Trp genotype in B-cell lymphoma was significantly lower than that in controls (p = .005). No significant relationship was found between genotypes and stage, lactate dehydrogenase, or bone marrow involvement. Conclusions: XRCC1 194Trp allele may be associated with a protective effect against development of childhood B-cell lymphoma. However, these results were based on a small number of case and further studies should be done.

Acute promyelocytic leukemia treated with idarubicin complicated by focal segmental glomerulosclerosis.

The authors report a 9-year-old boy presenting with a left cerebral ischemic infarction as the first manifestation of acute promyelocytic leukemia. During consolidation chemotherapy, the patient developed nephrotic syndrome and a renal biopsy revealed focal segmental glomerulosclerosis (FSGS). Remission in bone marrow was achieved with chemotherapy, however, new intracranial ischemic areas developed on follow-up. Acute promyelocytic leukemia complicated by FSGS has not been previously reported in children. There may be a relationship between anthracycline treatment and FSGS. Thrombosis could be related with both leukemia and nephrotic syndrome, here thrombosis was the initial symptom, before FSGS was diagnosed.

A rare cause of ischemic stroke: fibromuscular dysplasia

Childhood ischemic stroke is uncommon and may be associated with many causes and require extensive evaluation. Fibromuscular dysplasia is a rare cause of unknown etiology of childhood stroke which is mostly related with renovascular hypertension and in adults about 85% of cases renal artery has been involved, whereas the intracerebral circulation is the main area affected in children and the documented cause of stroke. We report a 4-year-old girl who presented with facial paralysis and diagnosed as intracranial fibromuscular dysplasia without renal artery involvement.

Duration and dispersion of the P wave after the Senning operation.

We studied the duration and dispersion of the P wave in patients after a Senning operation, assessing its value in detecting the risk of atrial tachycardias.We measured the duration and dispersion of the wave in surface 12 lead electrocardiograms obtained from 18 patients with sinus rhythm, having a mean age of 12.8 years, with 13 being males and 5 females, who had undergone a Senning operation, comparing the values obtained in 35 age and gender-matched healthy people. The patients had undergone repair at a mean age of 13.4 months, and had a mean duration of follow-up of 12.8 years after the procedure. We also made 24 hour Holter recordings.The maximal duration of the P wave, at a mean of 129.3 milliseconds, and dispersion with a mean of 78 milliseconds, were both significantly increased in the patients compared with their controls, the mean values for the normal subjects being 103.7 and 54 milliseconds. Supraventricular tachycardia was detected in 1 of 3 patients with dispersion greater than 100 milliseconds, and in 2 of 15 patients (13%) with dispersion less than 100 milliseconds as measured from the Holter recordings (p > 0.05).Thus, the maximum duration and dispersion of the P wave were increased in patients after a Senning operation, but we were unable to establish any relationship between these measurements and atrial tachycardias as observed using Holter monitoring.

Treatment of pediatric Burkitt lymphoma in Turkey.

This study aimed to assess the demographic data and treatment results of children who were diagnosed with Burkitt lymphoma and treated according to the Berlin-Frankfurt-Münster-95 (BFM) protocol in a single institution. A total of 48 patients (37 boys, 77%) with a median age of 8 years (range 2 to 16 years) at diagnosis, were evaluated. Primary tumor sites were abdomen (70.8%), head and neck (22.9%), peripheral lymph node (2%), bone (2%), and testis (2%). The 5-year overall survival (OS) and event-free survival (EFS) were 78.1±4% and 76.6±6%, respectively. In univariate analysis, hemoglobin level less than 10 g/dL, cerebrospinal fluid (CSF) positivity and dialysis requirement at diagnosis were found to be important reverse predictor factors for EFS (P; 0.001, 0.001, 0.004, respectively). In multivariate analysis, hemoglobin level less than 10 g/dL and dialysis at diagnosis were found to be important reverse predictor factors for EFS (P; 0.0001). The EFS of our patients was lower than the values achieved with BFM-95 protocol in other centers. This study provides evidence that low hemoglobin level, CSF positivity and dialysis at diagnosis were important predictor factors for EFS in children with Burkitt lymphoma.