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Isovaleric acidemia is a rare autosomal recessive inborn error of leucine metabolism. Two phenotypes with either an acute neonatal or a chronic intermittent presentation were described. The acute type is observed more frequently and is... more
Isovaleric acidemia is a rare autosomal recessive inborn error of leucine metabolism. Two phenotypes with either an acute neonatal or a chronic intermittent presentation were described. The acute type is observed more frequently and is more fatal. We report the case of a girl in childhood who presented with hyperglycemia and metabolic acidosis with an increased anion gap; and preliminarily diagnosed as diabetic ketoacidosis, but further investigation revealed chronic intermittent isovaleric academia. This case is of interest because of the rarity of this presentation. The importance of thinking for inborn errors of metabolism in children with metabolic acidosis in late childhood is emphasized.
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Akut miyeloid lösemi (AML) çocuklarda ikinci en sık lösemi türüdür. AML tanısı için kemik iliğinde % 30’un üstünde blast varlığı gereklidir. Destekleyici bakımdaki iyileşmelerle birlikte yoğunlaştırılmış konvansiyonel kemoterapi çocukluk... more
Akut miyeloid lösemi (AML) çocuklarda ikinci en sık lösemi türüdür. AML tanısı için kemik iliğinde % 30’un üstünde blast varlığı gereklidir. Destekleyici bakımdaki iyileşmelerle birlikte yoğunlaştırılmış konvansiyonel kemoterapi çocukluk çağı AML prognozunu iyileştirmiştir. AML olan çocukların tedavisinde gelişmeler, lökomogenezin ve ilaç direncinin altında yatan genetik anormallikler dikkate alınarak hastalığın biyolojisinin daha iyi anlaşılmasını gerektirir. Bu yazımızda AML genetik ve biyolojisine yeni bir bakış açısı sağlayan son çalışmaları, hastalık için risk sınıflaması ve tedavi tartışmalarını ve halen araştırılmakta olan terapötik ajanları özetledik.
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This is the report of a 2-year-old boy who presented with fever, cytopenia, and splenomegaly. The patient was diagnosed with hemophagocytic lymphohistiocytosis (HLH) and treated with HLH-2004 protocol. Repeated bone marrow aspiration... more
This is the report of a 2-year-old boy who presented with fever, cytopenia, and splenomegaly. The patient was diagnosed with hemophagocytic lymphohistiocytosis (HLH) and treated with HLH-2004 protocol. Repeated bone marrow aspiration showed amastigotes on follow-up. In endemic countries, visceral leishmaniasis should be considered in the differential diagnosis to avoid chemotherapy toxicity.
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Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate demographic and disease characteristics of patients, and assessed the efficacy of hemoglobinopathy control program (HCP) over 10 years in... more
Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate demographic and disease characteristics of patients, and assessed the efficacy of hemoglobinopathy control program (HCP) over 10 years in Turkey. A total of 2046 patients from 27 Thalassemia Centers were registered in which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%). The majority of patients were accumulated into the costal areas of Turkey. The high number of patients in South Eastern Anatolia would be contributed by the highest rate of consanguinity marriage and fertility. The most common 11 mutations represented 90% of all β-thalassemia alleles in which 47% of those was IVS1-110(G->A). The probability to undergo splenectomy within the first 10 years of life was 20% and unchanged since 1980s. The iron chelators were administered as monotherapy regimen in 95% of patients and deferasiro...
Research Interests: Demography, Thalassemia, Turkey, Humans, Mutation, and 7 moreFemale, Male, Registries, Phenotype, alleles, mass Screening, and Population surveillance
Mild bleeding symptoms are commonly seen in the general population. The aim of this study was to determine the final clinical and laboratory features of children referred for a first evaluation with a suspected bleeding disorder in the... more
Mild bleeding symptoms are commonly seen in the general population. The aim of this study was to determine the final clinical and laboratory features of children referred for a first evaluation with a suspected bleeding disorder in the pediatric outpatient clinic of İstanbul University. The medical records of 26,737 outpatients who were admitted to the Division of Ambulatory Pediatrics between 31 October 2011 and 31 October 2012 were evaluated retrospectively. Ninety-nine patients were initially diagnosed as having probable bleeding disorders and were followed up. The symptoms of bleeding in addition to coagulation tests were analyzed. Of the 99 patients, 52 (52.5%) were male and 47 were female, and the mean age of the entire study group was 9.1±4.1 years (range: 2-18 years). Major bleeding symptoms were epistaxis in 36 patients (36.4%), easy bruising in 32 (32.3%), and menorrhagia in 6 (6.1%). After initial tests ordered by the pediatrician, 36 of 99 patients (36.4%) were diagnosed...
