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Deferasirox (DFX) monotherapy is effective for reducing myocardial and liver iron concentrations (LIC), although some patients may require intensive chelation for a limited duration. HYPERION, an open-label single-arm prospective phase 2 study, evaluated combination DFX-deferoxamine (DFO) in patients with severe transfusional myocardial siderosis (myocardial [m] T2∗5-10 ms. Mean dose was 30.5 mg/kg per day DFX and 36.3 mg/kg per day DFO on a 5-day regimen. Geometric mean mT2∗ratios (Gmeanmonth12/24/Gmeanbaseline) were 1.09 and 1.30, respectively, increasing from 7.2 ms at baseline (n = 60) to 7.7 ms at 12 (n = 52) and 9.5 ms at 24 months (n = 36). Patients (17 of 60; 28.3%) achieved mT2∗≥10 ms and ≥10% increase from baseline at month 24; 15 switched to monotherapy during the study based on favorable mT2∗. LIC decreased substantially from a baseline of 33.4 to 12.8 mg Fe/g dry weight at month 24 (-52%). LVEF remained stable with no new arrhythmias/cardiac failure. Five patients discontinued with mT2∗

[No abstract available]

Objective: To retrospectively evaluate the clinical findings, laboratory data, management, and outcome in a group of Turkish children diagnosed with rare coagulation deficiencies (RCDs) between January 1999 and June 2009. Material and Methods: The Turkish Society of Pediatric Hematology-Hemophilia-Thrombosis-Hemostasis subcommittee designed a Microsoft Excel-based questionnaire for standardized data collection and sent it to participating institutions. Results: In total, 156 patients from 12 pediatric referral centers were included in the study. The cost common RCDs were as follows: FVII (n = 53 [34%]), FV (n = 24 [15.4%]), and FX (n = 23 [14.7%]) deficiency. The most common initial finding in the patients was epistaxis, followed by ecchymosis, and gingival bleeding. Conclusion: Initial symptoms were mucosal bleeding, and fresh frozen plasma (FFP) and tranexamic acid were the most commonly used treatments. We think that prophylactic treatment used for hemophilia patients should be considered as an initial therapeutic option for patients with rare factor deficiencies and a severe clinical course, and for those with a factor deficiency that can lead to severe bleeding.

Objective: To retrospectively evaluate the clinical findings, laboratory data, management, and outcome in a group of Turkish children diagnosed with rare coagulation deficiencies (RCDs) between January 1999 and June 2009. Material and Methods: The Turkish Society of Pediatric Hematology-Hemophilia-Thrombosis-Hemostasis subcommittee designed a Microsoft Excel-based questionnaire for standardized data collection and sent it to participating institutions. Results: In total, 156 patients from 12 pediatric referral centers were included in the study. The cost common RCDs were as follows: FVII (n = 53 [34%]), FV (n = 24 [15.4%]), and FX (n = 23 [14.7%]) deficiency. The most common initial finding in the patients was epistaxis, followed by ecchymosis, and gingival bleeding. Conclusion: Initial symptoms were mucosal bleeding, and fresh frozen plasma (FFP) and tranexamic acid were the most commonly used treatments. We think that prophylactic treatment used for hemophilia patients should be considered as an initial therapeutic option for patients with rare factor deficiencies and a severe clinical course, and for those with a factor deficiency that can lead to severe bleeding.

Introduction: In recent years, Fms-like tyrosin kinase (FLT) 3 has been the subject of several studies as a prognostic marker. Objective: In this study, the presence of FLT3 mutations in childhood acute leukemias patients and their association with prognosis were investigated. Materials and Methods: A total of 120 patients, 80 with acute lymphoblastic leukemia (ALL) and 40 with acute myeloblastic leukemia (AML), were included. Real time polymerase chain reaction methods on a high resolution melting analysis device were used to determine FLT3 mutations. Results: FLT3/ITD (internal tandem duplication) mutations were found in 6 (7.5%) of the patients with ALL and in 9 (22.5%) of those with AML, whereas no FLT3/TKD (trans kinase domain) mutation was evident in any case. There was no difference between the ALL patients positive and negative for FLT3/ITD with regard to overall survival (OS), event free survival (EFS) and disease free survival (DFS) (p=0.37, p=0.23, p=0.023, respectively). However, in FLT3/ITD positive and negative AML patients, there was a statistically significant difference in OS (p=0.0041), but not EFS and DFS (p=0.09, p=0.095, respectively). A significant difference was found between age and FLT3/ITD positivity (p=0.036). Conclusion: We found that FLT3/ITD positivity increased with age and that it was associated with decrease in OS in AML patients, providing further evidence that it is an independent factor negatively influencing prognosis.

[No abstract available]

Thrombosis is seen rarely as a spontaneous event in childhood. In condition with thrombosis, underlying conditions must be considered first. In etiology, deficiency of natural coagulation inhitors, mutations in enzymes and genes, cardiac malformations, trauma, viral and bacterial septicemia and malignancies are thought to be responsible factors. Here we want to present a case with MTHFR C 677 T heterozygotic mutation condition, having necrosis on face and Pseudomonas aureginosa was isolated from the lesion. Two year-old-girl was followed almost a year with diagnosis of ANNL-M6. At 5th months of maintenance treatment, beside the lesions above right eyebrow in form of insect bite and red in color than black and getting bigger, the other lesions were seen at left lateral side of the lips and the mandible. The antibiotics were begun according to febrile neutropenia protocol and supportive treatment for sepsis. The culture of wounds was revealed Pseudomonas aeruginosa. MTHFR mutation in heterozygotic condition was detected risk for tendency of thrombosis.

Osteopetrosis, also known as marble bone disease, is a rare in which osteoclast dysfunction causes defective bone resorption and increased bone mass. This disease has been classified into four types. The most severe and rare form is infantile malignant osteopetrosis. So we reported and discussed two siblings patients with infantile malignant osteopetrosis with new knowledge in the literature.

Xeroderma pigmentosum, neurofibromatosis, tuberous Sclerosis and neurocutaneous melanosis are considered in the group of "cancer prone genetic disorders". All of these disorders carry the risk of the cancer of the skin. In this study, five patients with xeroderma pigmentosum, seven patients with neurofibromatosis, two patients with tuberous sclerosis and one patient with neurocutaneous melanosis were presented. On genetic counseling: inheritance, clinical outcome, complications and predicted results have been explained by clinical geneticist and also prenatal diagnosis was proposed to all families.

Sickle cell anemia is a chronic hemolytic anemia with vasoocclusive crisis and is the most common symptomatic event that causes tissue hypoxia in many systems. Pulmonary crisis is one of them and its the major cause of mortality and morbidity in sickle cell anemia. Furthermore, pulmonary crisis is the second clinical situation for hospitalization. Pneumoia must be thought in differential diagnosis and is too difficult to rule out. Two cases with pulmonary crises with sickle cell anemia were presented with up to date knowledge.

Idiopathic pulmonary hemosiderosis (IPH) is more frequently seen in childhood than in adults, but it is still a rare disease. The clinical triad include hemoptysis, diffuse parenchymal infiltrates and iron deficiency anemia. Hydroxychloroquine, azothioprine and cyclophosphamide or combination therapies have been recommended for the control of the disease. In this report, we presented a pediatric case with IPH that failed to respond corticosteroid therapy and was treated succesfully with the combination of azathioprine.

Trombophilia is a clinical syndrome that is characterized by recurrent thrombotic events caused by a genetic defect in one of the coagulation regulatory or fibrinolytic proteins. A 21 month-old-boy was referred to our hospital with echimotic and necrotic purpuric lesions on both parts of his gluteal regions and under the right knee. Fresh frozen plasma was given and the patient was heparinized. Debridment of necrotic lesions was performed after the formation of demarcation line. We determined prothrombin mutation G20210 heterozygosity during our investigation for primary thrombosis risk factors. Due to the presence of underlying etiological factors during childhood the risk for thrombosis should always be in mind, and parameters that should be investigated of, has been pinpointed. For this reason, we hereby present a case report and emphasise the parameters that should be investigated.

A retrospective study was performed involving 93 patients, identified central nervous system (CNS) infiltration and/or had neurological symptoms and/or signs, of 501 patients with acute lymphoblastic leukemia (ALL) at University of Çukurova, Balcali Hospital over nine years period. The purpose of this study was to determine the frequency of neurological complications occurred during malignant diseases. In patients with ALL, headache (38.7%) was the most common symptom and altered level of consciousness (28%) was the most common signs of physical examination. 25 (26.8%) patients with ALL had a cranial nerve paralysis. Of the patients with cranial nerve paralysis, 21 had facial nerve paralysis. The period of time, between at the time of initial diagnosis and at the time occurred first neurological sign, was mean 11.84±25.62 months. The period of time, between at the time of initial diagnosis and at the time determined CNS infiltration, also, was 16.14±16.9 months. In conclusion, it is necessary that the risk factors of CNS involvement are considered for the purpose of the treatment planning of the patients with ALL for whom CNS involvement have just kept on by an important problem and so the presymptomatic CNS therapy should be put into practice far more carely. The current therapies of ALL is, anyway, planned by considering to the risk factors of CNS infiltration.

PubMedID: 10770680 The aim of this study was to determine the prevalence of GB virus C (GBV-C) infection in pediatric patients receiving multiple blood transfusions in Turkey where HBV and HCV infections are common. Sera of a total of 148 children, of whom 85 had cancer and 63 hemoglobinopathies, were tested for GBV-C RNA and HCV RNA by RT-PCR and for antibodies to HBV and HCV. Demographic and clinical information as well as laboratory results were recorded for the patients (81 boys, 67 girls, aged 1-19 years). HBsAg positivity was found in 23 (15.5%) patients, HBV DNA positivity in 12 (8.1%), HCV RNA positivity in 9 (6.7%), and GBV-C RNA positivity in 4 (2.7%). There was no significant difference in the GBV-C RNA positivity between patients with cancer (3.2%) and patients with hemoglobinopathies (2.4%) (p > 0.05). GBV-C RNA was found in 4 (3.1%) out of 127 patients who had received transfusions, but it was not found in any of 21 patients who had not received transfusions. However, there was no relationship between GBV-C RNA positivity and the number of transfusions. Two of the patients with GBV-C RNA had high levels of ALT (ALT > 40 IU). In these two patients, neither HBV DNA nor HCV RNA were detected by PCR, and serological tests were also negative for these agents. We concluded that pediatric patients who had multiple transfusions in Turkey are at risk of being infected with GBV-C, in addition to HBV and HCV. Investigation of GBV-C RNA in patients with high ALT levels in the absence of other viral markers may be useful.

PubMedID: 8249189 Plasma, erythrocyte and urinary selenium levels were determined in 21 sickle cell homozygote patients, 20 siblings with sickle cell traits, 29 parents and in 21 healthy controls with an HbAA pattern. The mean levels of plasma and erythrocyte selenium and the daily urinary selenium depletion were found to be lower in the HbSS patients than in the controls (p < 0.02; p < 0.001; p < 0.001, respectively). Urinary selenium depletion was found to be lower in the sickle cell trait siblings than in the controls (p < 0.001), but the plasma and erythrocyte selenium levels were close to normal values (p > 0.05). The mean erythrocyte selenium levels were found to be decreased in the parents as compared with the controls (p < 0.05), which indicates that urinary selenium losses may be replenished primarily by sources in the plasma and in the erythrocytes before stores in the other parts of the body are used.

PubMedID: 15074372 Anthracycline and cytosine arabinoside are used in combination as the standard therapy for remission induction of acute nonlymphoblastic leukemia. Idarubicin, a synthetic daunorubicin analogue, shows an improved spectrum activity and diminishes acute or chronic toxicity when compared with the other anthracyclines. This study has been carried out in our clinic in order to evaluate the efficiency of the acute nonlymphoblastic leukemia protocol which includes idarubicin. Thirty-eight patients admitted to our Department between 1992-1999 and diagnosed as acute nonlymphoblastic leukemia (ANLL) were included in the study. Their median age was 7 years 6 months (range, 8 months to 14 years). Induction therapy consisted of idarubicin plus cytosine arabinoside and etoposide. Consolidation therapy consisted of two courses, followed by maintenance therapy with thioguanine, cytosine arabinoside, vincristine and cyclophoshamide. The complete remission rate was found to be 71%. The overall survival estimate was found to be 40% for one year and 23% for three years. We established that the protocol with idarubicin reached a higher remission ratio when compared with the other protocols with anthracycline. However, the degree of the hematologic toxicity ratios related to the therapy increased the complication ratios, which affected the long-term life analyses directly. Therefore this protocol may be revised according to socioeconomical conditions, especially in the developing countries.