Publications by authors named "Gizem Ersoy"

8 Publications

  • Page 1 of 1

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.

Turk J Pediatr 2019 ;61(2):257-260

Departments of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey.

Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turk J Pediatr 2019; 61: 257-260. Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus. Here we report, a 5-year-old boy who presented with transfusion dependent anemia and diabetes mellitus and was diagnosed with TRMA. Besides reporting a novel mutation of the causative gene SLC19A2, we wanted to emphasize this syndrome in the aspect of coexistence of insulin dependent diabetes, transfusion dependent anemia and thrombocytopenia.
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http://dx.doi.org/10.24953/turkjped.2019.02.015DOI Listing
July 2020

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.

Turk J Pediatr 2019 ;61(2):257-260

Departments of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey.

Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turk J Pediatr 2019; 61: 257-260. Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus. Here we report, a 5-year-old boy who presented with transfusion dependent anemia and diabetes mellitus and was diagnosed with TRMA. Besides reporting a novel mutation of the causative gene SLC19A2, we wanted to emphasize this syndrome in the aspect of coexistence of insulin dependent diabetes, transfusion dependent anemia and thrombocytopenia.
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http://dx.doi.org/10.24953/turkjped.2019.02.015DOI Listing
July 2020

A Pediatric Case of Idiopathic Hypereosinophilia Preceeding Precursor B-cell Lymphoblastic Lymphoma of Nasopharynx.

J Pediatr Hematol Oncol 2020 04;42(3):248-249

Department of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Traning and Research Hospital.

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http://dx.doi.org/10.1097/MPH.0000000000001561DOI Listing
April 2020

Thiol Disulfide Homeostasis and Ischemia-modified Albumin Level in Children With Beta-Thalassemia.

J Pediatr Hematol Oncol 2019 10;41(7):e463-e466

Department of Clinical Biochemistry, Faculty of Medicine, Yildirim Beyazit University, Ankara, Turkey.

Objective: It is well known that increased oxidative stress leads to tissue damage in beta-thalassemia (β-thal) patients. Thiols are one of the most important antioxidant agents, and thiol/disulfide (SH/SS) homeostasis is a novel oxidative stress marker. This study aimed to investigate the relationship of thiol levels, SH/SS homeostasis, and ischemia-modified albumin (IMA) in patients with β-thal.

Materials And Methods: A hundred transfusion-dependent β-thal patients and 41 healthy controls were included in the study.

Results: Native thiol, total thiol, disulfide, catalase, and IMA levels were significantly higher in the β-thal group compared with the control group (P<0.02). There were no correlation between serum ferritin level and SH/SS homeostasis, and weak positive correlations were found between serum ferritin and IMA (r=0.242, P=0.022).

Conclusions: Our study results suggest that antioxidant systems try to compensate for peroxidative damage in the patients' group and serum IMA level was found increased because of increased oxidative status. To the best of our knowledge, there has been no report evaluating plasma dynamic SH/SS homeostasis in β-thal patients.
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http://dx.doi.org/10.1097/MPH.0000000000001535DOI Listing
October 2019

Causes of Hypochromic Microcytic Anemia in Children and Evaluation of Laboratory Parameters in the Differentiation.

J Pediatr Hematol Oncol 2019 May;41(4):e221-e223

Kanuni Sultan Suleyman Training and Research Hospital, Pediatric Hematology Oncology, Istanbul, Turkey.

Most common causes of microcytic anemia in children are iron deficiency anemia (IDA) and thalassemia. Differentiation of these and detection of coexistence is essential for genetic counseling and to set a treatment plan. Aim is to characterize the frequency of IDA and thalassemia trait (TT) in children presenting with hypochromic, microcytic anemia and to define the significance of blood count parameters in differential diagnosis. Of the 200 enrolled, 107 were male (53.5%). In total 154 had IDA (77%), 27 had β-TT (13.5%), and in 11 (5.5%) both conditions coexisted. Eight patients had α-thalassemia gene mutations, 3 of these also had IDA. RBC, MCV, Mentzer index, serum iron, TIBC, ferritin were significantly different between IDA and β-TT patients (P<0.001); however, RDW was not different between the 2 groups (P>0.05). Sensitivity and specificity of Mentzer index for the detection of β-TT were 100% and 69.4%, respectively. The positive and negative predictive values of Mentzer index in diagnosing β-TT were 36.6% and 100%, respectively. Differential diagnosis of microcytic anemia is important in children, especially in regions where IDA and thalassemia are both prevalent. We found that 7% of children referred to our clinic for hypochromic, microcytic anemia had both TT and IDA. Our data showed that serum iron, ferritin, TIBC, MCV, and Mentzer index were all valuable markers in diagnosing IDA and were significantly different compared with β-TT patients; RDW was not different between the 2 groups.
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http://dx.doi.org/10.1097/MPH.0000000000001382DOI Listing
May 2019

Burkitt Leukemia With Precursor B-Cell Immunophenotype and Dual Translocation of t(14;18) and t(8;14) in a Child: Case Report and Review of the Literature.

J Pediatr Hematol Oncol 2020 01;42(1):e61-e63

Department of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Education and Research Hospital.

Background: Burkitt leukemia (BL) with the precursor B-cell immunophenotype is a rarely reported condition. The prognosis of such patients is similar to that of classic BL. However, the combination of chromosomal translocations associated with bcl-2 and c-myc rearrangement has a poor prognosis.

Observations: An 11-year-old child presented with fever and weakness. Bone marrow aspiration showed morphologically L1 type blasts and flow cytometry analysis was compatible with precursor B-cell immunophenotype. Cytogenetic analysis revealed a combination of t(8;14) and t(14;l8).

Conclusions: The combination of t(8;14) and t(14;l8) can exhibit different immunophenotypical and morphologic features in leukemias.
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http://dx.doi.org/10.1097/MPH.0000000000001354DOI Listing
January 2020

Congenital Factor Deficiencies in Children: A Report of a Single-Center Experience.

Clin Appl Thromb Hemost 2018 Sep 19;24(6):901-907. Epub 2017 Oct 19.

2 Department of Hematology-Internal Medicine, Cerrahpaşa Medical School, İstanbul University, İstanbul, Turkey.

Congenital factor deficiencies (CFDs) refer to inherited deficiency of coagulation factors in the blood. A total of 481 patients with CFDs, who were diagnosed and followed at our Pediatric Hematology and Oncology Clinic between 1990 and 2015, were retrospectively evaluated. Of the 481 cases, 134 (27.8%) were hemophilia A, 38 (7.9%) were hemophilia B, 57 (11.8%) were von Willebrand disease (vWD), and 252 (52.3%) were rare bleeding disorders (RBDs). The median age of the patients at the time of diagnosis and at the time of the study was 4.1 years (range: 2 months to 20.4 years) and 13.4 years (range: 7 months to 31.3 years), respectively. The median duration of the follow-up time was 6.8 years (range: 2.5 months to 24.8 years). One hundred nineteen (47.2%) of 252 patients with RBDs were asymptomatic, 49 (41.1%) of whom diagnosed by family histories, 65 (54.6%) through preoperative laboratory studies, and 5 (4.2%) after prolonged bleeding during surgeries. Consanguinity rate for the RBDs was 47.2%. Prophylactic treatment was initiated in 80 patients, 58 of whom were hemophilia A, 7 were hemophilia B, 13 were RBDs, and 2 were vWD. Significant advances have been achieved during the past 2 decades in the treatment of patients with CFDs, particularly in patients with hemophilias. The rarity and clinical heterogeneity of RBDs lead to significant diagnostic challenges and improper management. In this regard, multinational collaborative efforts are needed with the hope that can improve the management of patients with RBDs.
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http://dx.doi.org/10.1177/1076029617731596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714728PMC
September 2018

A Rare Late Complication of Port Catheter Implantation: Embolization of the Catheter.

Turk J Haematol 2018 May 26;35(2):142-143. Epub 2017 Apr 26.

University of Health Sciences, İstanbul Kanuni Sultan Süleyman Training and Research Hospital, Clinic of Pediatric Hematology and Oncology, İstanbul, Turkey.

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http://dx.doi.org/10.4274/tjh.2017.0134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972342PMC
May 2018