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Cardiac complications are the leading cause of death in β-thalassemia major (TM) patients. The aim of this study was to investigate the impact of iron overload on ventricular functions using conventional and tissue Doppler imaging (TDI) in patients with TM and compare them with children with thalassemia trait (TT) and healthy controls. This prospective study includes 3 groups: group 1: 29 patients with β-TM; group 2: 28 patients with TT; group 3: 29 healthy controls. Peak late relaxation velocity determined by conventional echocardiography for the right ventricle was significantly higher and the E/A ratio for the right ventricle and left ventricle were significantly lower in TM patients than the other groups ( P < .05). Peak late relaxation velocity determined by TDI for the left ventricle, interventricular septum, and right ventricle were significantly higher in TM patients than the TT subjects and controls ( P < .001). The E/A ratio determined by TDI for the left ventricle, interventricular septum, and right ventricle were significantly lower in group 1 than the other 2 groups ( P < .001). There was a negative correlation between the ferritin level and E/A ratio for the left ventricle, interventricular septum, and right ventricle using TDI ( P < .05). Conventional echocardiographic techniques have failed to distinguish ventricular functions of asymptomatic patients with TM from the subjects with TT and from normal controls when global functions were examined. The present study indicates that TDI should be used for screening of TM and TT subjects' cardiac functions. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequency of Helicobacter Pylori (HP) seroprevalence and infection in ß Thalassemia major(TM) patients and to compare between ß TM patients and controls both presenting with recurrent abdominal pain (RAP). Methodology: The study group included 62 TM and 41 healthy controls with RAP. Serum samples were examined for anti-HP antibody using an HPIgG ELISA. Urea-breath test was applied to patients with positive HPIgG by using 14C. In 36 of TM patients (58.1%) and 20 of healthy children (48.8%) HPIgG (+) was stated. Results: In terms of HPIgG frequency, no difference was found between TM and control groups (p=0.354). The Urea-breath test given to the TM patients and healthy children with HPIgG (+), test in 30 TM patient (48.4%) and 16 healthy children (39%) the Urea-breath test was found to be positive (p=0.34). With Urea-breath test of TM patients, statistically a significant relationships were found between ALT level, epigastric pain, periumbilical pain, splenectomy and age (respectively p=0.02, p=0.03, p=0.00, p=0.01).Conclusion: Helicobacter Pylori in our developing country may be one of the causes of RAP in TM patients as well as healthy children. [ABSTRACT FROM AUTHOR]

In this study, the authors aimed to evaluate the frequency of pulmonary hypertension (PHT) in asymptomatic thalassemia major (TM) patients, and to investigate the impact of pulmonary function test (PFT) and CO diffusion results on the evaluation of pulmonary hypertension. Data from 50 asymptomatic patients with TM over age 10 were evaluated. Pulmonary hypertension was diagnosed in 10 patients (20%). High tricuspid regurgitant jet velocity was found in 14% of adults and in 25% of children. Pulmonary function test including CO diffusion testing results were not different between the TM patients with or without pulmonary hypertension. In conclusion, PHT was frequent among TM patients even they were asymptomatic and although PFT results has shown lack of association, it should be investigated in larger population. [ABSTRACT FROM AUTHOR]

WAS is a rare X-linked recessive disorder characterized by primary progressive T cell immunodeficiency, impaired antipolysaccharide antibody response, thrombocytopenia with small platelet, and eczematoid dermatitis. Untreated patients with typical WAS have poor prognosis with the major causes of death being infection, bleeding, lymphoproliferative disorders, and malignancy. Due to the increased risk of infectious and hemorrhagic episodes the best results with HSCT are achieved in patients less than five yr of age and are recommended as early as possible. Here, we report a three-yr-old boy with WAS who underwent UCB and BMT from his genotypically identical brother with Klinefelter syndrome. [ABSTRACT FROM AUTHOR]

MicroRNAs are non-protein coding RNAs that have recently been revealed to be effective in cancer biogenesis which effect posttranscriptional gene modification. The incidence of childhood hematologic cancers is increasing. Therefore, this study aimed to investigate the relationship between miRNA expression and its prognosis in childhood leukemias. Twenty-one patients and 5 healthy control subjects were included in the study. Out of 26 subjects, 15 were patients diagnosed with acute lymphoblastic leukemia (ALL), 6 were patients diagnosed with acute myeloblastic leukemia (AML) and 5 were healthy control subjects. Peripheral venous samples were collected from the patients before and 1 month after chemotherapy and their miRNA analyses were performed. Decreased expressions of let-7b, miR-31, miR-128-1, miR-218, miR-331, miR-372, miR-375, miR-422, miR-451 and miR-520 were found in patients with AL compared to the healthy control subjects. While the expression of miR-375 decreased in patients with ALL, the expressions of miR-21, miR-222, miR-30, miR-145, miR-146a and miR-155 increased. While the expression of miR-155 increased in patients with AML, the expressions of miR-10, miR-23, miR-218, miR-422 and miR-451 decreased. It was also found that while the expressions of miR-204,miR-7,miR-10, miR-30, miR-155, miR-192, miR-422, miR-451,miR-520, miR-548, miR-375, miR-1, miR-23 and miR- 146a increased in patients with leukemia after the treatment, the expressions of let-7b and miR-132 decreased. A positive correlation was found between leukocyte count of patients with leukemia before the treatment and the expressions of miR-128-1 and miR-331 among miRNAs that changed after the treatment. MiRNAs play role in the pathogenesis, treatment response, relapse and prognosis of hematologic malignancies. [ABSTRACT FROM AUTHOR]

Abstract: The current study was conducted to assess 3435C>T multidrug resistance 1 gene polymorphism and the efficacy of high dose methylprednisolone (HDMP) in childhood acute idiopathic thrombocytopenic purpura patients. Methods: A total of 31 childhood acute Idiopathic thrombocytopenic purpura patients (17 females, 14 males) between the ages of 2 and 16years of age were included in the study. High-dose methylprednisolone was given at a dose of 30mg/kg/day for 3days and 20mg/kg/day for 4days, consecutively and intravenously. Polymerase chain reaction–restriction fragment length polymorphism was used for the detection of C3435T single nucleotide polymorphism. Fragments obtained were 238bp to T/T genotype, 172bp and 60bp fragments to the C/C genotype, and 238bp, 172bp and 60bp to the C/T genotype. Results: The distribution of CC, CT, and TT genotypes were 19.0%, 61.3%, and 19.4%, respectively. Both allele frequencies of C and T were the same — 50%. There was no significant difference in genotype and allele distribution between the patients with ITP and the control group (χ 2 =0.84 p=0.65, χ 2 =0.2 p=0.63, respectively). There were no significant differences in age, gender, and pre- and post-treatment platelet counts between CC, CT, and TT genotypes of the MDR gene. Response to treatment shows no significant difference between genotype and allele groups. Conclusion: In our study, there was no difference in the HDMP treatment response between MDR1 gene genotypes. However, it should be noted that this study includes a small group of patients. Our data should therefore be considered preliminary, awaiting further confirmatory studies on an expanded patient base. [Copyright &y& Elsevier]