Yasemin Isik Balci

Serum Vitamin B12 and Folate Concentrations and the Effect of the Mediterranean Diet on Vulnerable Populations

Low vitamin B12 and folate levels in expectant mothers may lead to low stores in babies. The aim of this study was to determine the frequencies of vitamin B12 and folate deficiencies in pregnant women and neonates, and to assess the effect of maternal vitamin status on babies’ vitamin levels in the Aegean region of Turkey, where the Mediterranean diet (mainly fresh fruits and vegetables) is adopted. We studied 72 pregnant women and their singleton-term babies. Venous blood samples of expectant mothers were collected 1 h before delivery and cord blood of babies were obtained at birth. The mean vitamin B12 in maternal and cord blood serum was 163.1 ± 72.0 pg/mL and 146.2 ± 102.5 pg/mL, and the mean folate, 9.8 ± 4.8 ng/mL and 15.8 ± 3.8 ng/mL, respectively. There were statistically significant correlation between maternal and cord blood serum vitamin B12 (r = 0.61, P = .04) and folate levels (r = 0.65, P < .001). 70.8% of the mothers and 83.9% of the babies were vitamin B12 deficient (<200 pg/mL). Neither group showed folate deficiency. The mean level of vitamin B12 in mothers significantly varied by the type of diet (241.6 (72.1) pg/mL versus 155.9 (68.2) pg/mL; P = .012). Vitamin B12 deficiency in pregnant women and neonates may be a public health problem in our community. The Mediterranean diet in these vulnerable groups may be an aggravating factor for vitamin B12 deficiency. Prenatal screening of all expectant mothers, prenatal supplementation of vitamin B12, and an increase in animal-source food intake may improve expectant mothers vitamin B12 level.

Presacral and intrathoracic extramedullary hematopoiesis: a case report

Extramedullary hematopoiesis (EMH) refers to the location of hematopoietic elements in locations other than the bone marrow and peripheral blood. It may be seen as a compensatory condition in many hematological conditions including thalassemia, or it may occur as an incidental finding. Intrathoracic EMH commonly develops in the posteroinferior mediastinum. Presacral EMH is an extremely rare condition, and there are a limited number of case reports published in the literature. We are reporting a case of EMH that involves the posterior mediastinum and presacral region on computed tomography and magnetic resonance imaging in a patient with thalassemia intermedia.

FREQUENCY OF PULMONARY HYPERTENSION IN ASYMPTOMATIC β-THALASSEMIA MAJOR PATIENTS AND THE ROLE OF PHYSIOLOGICAL PARAMETERS IN EVALUATION

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.

Detection of Early Cardiac Dysfunction in Patients with β-Thalassemia Major and Thalassemia Trait by Tissue Doppler Echocardiography

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.

Relation between 3435C>T multidrug resistance 1 gene polymorphism with high dose methylprednisolone treatment of childhood acute idiopathic thrombocytopenic purpura

UNLABELLED 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 16 years of age were included in the study. High-dose methylprednisolone was given at a dose of 30mg/kg/day for 3 days and 20mg/kg/day for 4 days, 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.

Increased availability of family donors for hematopoietic stem cell transplantation in a population with increased incidence of consanguinity

Balcı YI, Tavil B, Tan CS, Ozgur TT, Bulum B, Cetin M, Balcı M, Yalcın S, Tezcan I, Uckan D. Increased availability of family donors for hematopoietic stem cell transplantation in a population with increased incidence of consanguinity.
Clin Transplant 2011: 25: 475–480.

Adipocytokine concentrations in children with different types of beta-thalassemia.

Abstract Background. Beta-thalassemia is an inherited blood disorder. It results from the impaired production of β-globin chains, leading to a relative excess of alpha-globin chains. Clinical severity separates this disease into three main subtypes: β- thalassemia major, β-thalassemia intermedia and β-thalassemia minor, the former two being clinically more significant. Inflammatory processes may play an important role in some of the complications of thalassemia. Adipose tissue is one of the most important endocrine and secretory organs that release adipocytokines like adiponectin, resistin and visfatin. Aim. The aim of our study was to analyze adipocytokine concentrations (adiponectin, resistin and visfatin) in different types of β-thalassemia patients and determine any possible correlations with disease severity. Methods. We recruited 29 patients who were transfusion-dependent β-thalassemia-major patients, 17 patients with β-thalassemia intermedia, 30 β-thalassemia minor patients. The control group consisted of 30 healthy children. Anthropometric measurements, complete blood count, biochemical parameters, serum concentrations of adiponectin, resistin, visfatin were performed for all subjects. Results. Resistin and visfatin concentrations were significantly higher in β-thalassemia minor patients than in controls. Adiponectin, resistin and visfatin concentrations were significantly higher in both β-thalassemia intermedia and major patients than in controls. The concentrations of adiponectin, resistin and visfatin were significantly higher in both β-thalassemia intermedia and major patients than in β-thalassemia minor patients. There was no significant difference between β-thalassemia intermedia and β-thalassemia major patients for adipocytokines concentrations. Conclusion. We speculate that these adipocytokines may play a role in the development of complications in β-thalassaemia.

Focal herniation of cerebral parenchyma into transverse sinus.

Journal of Neuroradiology - In Press.Proof corrected by the author Available online since samedi 8 novembre 2014

Intensive Menstrual Bleeding Successfully Treated With Recombinant Factor VIIa in Glanzmann Thrombasthenia

Glanzmann thrombasthenia (GT) is a rare inherited qualitative platelet disorder due to the deficiency or defect of platelet membrane glycoprotein (GP) IIb/IIIa complex. Symptoms include purpura, petechiae, bruising, gingival bleeding, epistaxis, and menorrhagia. Platelet transfusion is considered the standard therapy for securing hemostasis in patients with GT when local measures and antifibrinolytic agents are inadequate. However, repeated platelet transfusions may result in GP IIb/IIIa and/or human leukocyte antigen (HLA) immunization and development of platelet refractoriness. Recombinant factor VIIa (rFVIIa) has been introduced as therapeutic alternative and has been suggested to be effective. Recombinant factor VIIa is indicated in Europe for the treatment of GT refractory of platelet transfusion. In previous studies, rFVIIa has been used in the prophylactic treatment of bleeding in patients with GT undergoing pelvic surgery, cesarean section, and vaginal delivery. In this article, we present a case of intensive menstrual bleeding refractory to previous antifibrinolytic agents and platelet transfusions but which responded well to treatment with rFVIIa. To our knowledge, there is no study or reported case in the literature reporting successful use of rFVIIa in a patient with excessive menstrual bleeding due to GT.

Mature B Cell Acute Lymphoblastic Leukemia Presenting with Hypercalcemia

Hypercalcemia is rarely observed in acute lymphoblastic leukemia. So far, all cases presenting with hypercalcemia are pre-B cell ALL. In this case, a mature B-cell ALL patient presenting with hypercalcemia is discussed. A threeyear-old boy had a history of fever, weakness, swelling and pain in both kness. In the patient’s blood smear, 93% L3 type blasts were seen and 90% L3 type large blasts with vacuoles were seen in the bone marrow aspiration smear. The flow cytometry results were as follows: CD10: 87%; CD19: 85%; KAPPA: 66%; and Lambda: 35% was compliant with mature B cell ALL. His calcium level: 15 mg/dl. Although previous cases imply that hypercalcemia is usually treated with pamidronate, calcium levels gradually decreased to normal levels within five days with intravenous fluid therapy, furosemide, and steroids in our case. Conclusion: Hypercalcemia is rare in leukemia. So far, all cases presenting with hypercalcemia are pre-B cell ALL. It is important to know that hypercalcemia could be seen in the mature B-cell ALL.