Evaluation of electrocardiographic markers of cardiac arrhythmic events and their correlation with cardiac iron overload in patients with beta-thalassemia major

Iron overload is associated with an increased risk of atrial and ventricular arrhythmias. Data regarding the relationship between electrocardiographic parameters of atrial depolarisation and ventricular repolarisation with cardiac T2* MRI are scarce. Therefore, we aimed to investigate these electrocardiographic parameters and their relationship with cardiac T2* value in patients with beta-thalassemia major. In this prospective study, 52 patients with beta-thalassemia major and 52 age- and gender-matched healthy patients were included. Electrocardiographic measurements of QT, T peak to end interval, and P wave intervals were performed by one cardiologist who was blind to patients' data. All patients underwent MRI for cardiac T2* evaluation. Cardiac T2* scores less than 20 ms were considered as iron overload. P wave dispersion, QTc interval, and the dispersions of QT and QTc were significantly prolonged in beta-thalassemia major patients compared to controls. Interestingly, we found prolonged P waves, QT and T peak to end dispersions, T peak to end intervals, and increased T peak to end/QT ratios in patients with T2* greater than 20 ms. No significant correlation was observed between electrocardiographic parameters and cardiac T2* values and plasma ferritin levels. In conclusion, our study demonstrated that atrial depolarisation and ventricular repolarisation parameters are affected in beta-thalassemia major patients and that these parameters are not correlated with cardiac iron load

Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF

###EgeUn###Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE. Furthermore, the mutations of HAX1, G6PC3, and JAGN1 genes may cause CN. These patients generally find great benefit from subcutaneous administration of Granulocyte Colony Stimulating Factor (GCSF). In recent years, Biallelic Colony Stimulating Factor 3 Receptor (CSF3R) mutations have been described as an underlying defect of CN in several children. In contrast to the previous group, the patients who have a CSF3R mutation do not respond to GCSF treatment. Here, we present a CN patient with hypomorphic biallelic CSF3R mutation responding to GCSF

Hyponatremia in Children with Acute Lymphoblastic Leukemia

Yazici Ozkaya, Pinar/0000-0002-1209-2534; Ozen, Selime/0000-0002-7156-7480WOS: 000533660200011Aim: Hyponatremia is a common electrolyte abnormality in hospitalized patients. Administration of isotonic maintenance fluids is recommended to prevent hyponatremia. the present study was conducted to evaluate the frequency and severity of hyponatremia in children with acute lymphoblastic leukemia (ALL). Materials and Methods: the frequency, severity and possible causes of hyponatremia in children with ALL throughout their entire intensive treatment were retrospectively evaluated. All children in this study received isotonic fluids as maintenance IV treatment during the hospitalization period. Results: in a five-year period, 618 hyponatremia episodes seen in 92 children with ALL (median age 59 months), treated with ALLIC 2002 protocol were entered into the study. the median number of hyponatremia episodes per patient was 6. All patients had at least one hyponatremia episode of which 83.2% were classified as mild, 13.2% as moderate, 2.9% as severe and 0.6% as very severe. the median duration of hyponatremia episodes was 5 (range between 1-43) days. the total duration of all hyponatremia episodes of each patient varied from 6 to 138 days with a median of 30 days. in 241 episodes of 68 children, there was inadequate salt intake secondary to oral feeding intolerance, nausea, vomiting and oral aphthous stomatitis. in four patients, seizure was seen during the hyponatremia period and thought to be secondary to hyponatremic encephalopathy. No patient developed central pontine myelinolysis. Conclusion: Hyponatremia is very frequent in ALL patients. Despite the use of isotonic IV fluids, it seems it cannot be completely prevented

Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF

WOS: 000524726900008PubMed: 30499904Severe Congenital Neutropenia (SCN) is a rare inherited disease characterized by an absolute neutrophil count (ANC) lower than 500/mu L. Genetic heterogeneity and biallelic CSF3R mutation has rarely been identified as an underlying genetic defect in SCN. the majority of SCN patients respond to granulocyte colony stimulating factor treatment; however, in patients with inherited CSF3R mutation, ANC cannot generally be increased with granulocyte colony stimulating factor treatment. in such cases, granulocyte macrophage colony stimulating factor presents as an effective treatment option. Herein, we report a case of a 5-year-old SCN girl with homozygous c610-611 del ins AG (p.Q204R) mutation in the CSF3R gene, who was successfully treated with granulocyte macrophage colony stimulating factor

Hematologic Malignancies in Children with Down Syndrome: Transient Myeloproliferative Disease and Acute Megakaryoblastic Leukemia

WOS: 000219054200011Down Syndrome (DS) is an important genetic disease resulting from partial or total trisomy of chromosome 21 and characterized by dysmorphic facial features, intellectual disabilities and multiple congenital anomalies. Children with DS are at increased risk of developing leukemia. Specifically, 3-10% of newborns with DS are diagnosed with transient myeloproliferative disease, and children with DS are 500 times more likely to develop acute megakaryoblastic leukemia (AMKL), and 20 times more likely to develop acute lymphoblastic leukemia (ALL) than children without DS. In this study, we report two children with DS presented with transient myeloproliferative disease

Proven and probable invasive fungal infections in children with acute lymphoblastic leukaemia: results from an university hospital, 2005-2013

WOS: 000351404000006PubMed ID: 25728069Despite improvements in diagnosis and treatment, invasive fungal infections (IFIs) are still a major cause of morbidity and mortality in immunocompromised patients. The data on IFI among children with acute lymphoblastic leukaemia (ALL) are still scarce, and our aim was to estimate the risk, aetiology and outcome of proven and probable IFIs in children with ALL who did not receive primary prophylaxis over an 8-year period. Between January 2005 and February 2013, 125 children who were treated for ALL at the Pediatric Hematology Department of the Medical School of Ege University were retrospectively reviewed. Proven and probable IFIs were defined according to revised definitions of the European Organization for Research and Treatment of Cancer/Invasive Fungal Infections Cooperative Group and the National Institute of Allergy and Infectious Diseases Mycoses Study Group. The proven and probable IFI incidence was 30/125 (24%). Profound neutropenia was detected in 18 (60%) patients, and prolonged neutropenia was detected in 16 (53.3%) of the patients. The most isolated agents were non-albicans Candida spp. The crude and attributable mortality was 20% and 13.3% respectively. Profound neutropenia was associated with mortality (P<0.05). The younger patients were especially at risk for proven IFI. Prolonged neutropenia, to be in the induction phase of chemotherapy, and profound neutropenia were found to be the most common predisposing factors for IFI episodes

Utility of the serum galactomannan assay for the diagnosis of invasive aspergillosis in children with acute lymphoblastic leukemia

Objectives: Invasive aspergillosis (IA) is an important cause of mortality and morbidity in children with hematological malignancies. The monitoring of serum galactomannan (GM) antigen is considered useful in the diagnosis of IA . The aim of this study was to determine the utility of serum GM monitoring in the early diagnosis of IA and the role of positive antigenemia in the management of children with acute lymphoblastic leukemia (ALL). Methods: The cases of 141 children who were being treated for ALL in the Division of Pediatric Hematology of the Medical School of Ege University between January 2006 and February 2015 were reviewed retrospectively. Cases of proven and probable IA were defined according to the European Organization for the Research and Treatment of Cancer/Mycoses Study Group (EORTC/MSG) criteria. Results: The incidence of proven and probable IA was 3.5% (5/141). The incidence of positive GM antigenemia among 3264 serum samples was 5.5% (n = 179). Of the cases detected, 21.7% were true-positive, 52.1% were false-positive, and the remaining 26.1% were classified as ‘undetermined.’ An increase in the incidence of true-positive tests and induction of antifungal therapy was determined through multiple consecutive positive tests. Conclusions: GM may be detected in the serum before the clinical signs of IA appear, but its sensitivity and specificity are variable. False-positivity is a significant disadvantage, and consecutive positive GM must be taken into account in the case of clinical and imaging findings that are relevant to IA