Arzu Akcay

Acıbadem Mehmet Ali Aydınlar Üniversitesi · Department of Pediatric Bone Marrow Transplantation

Background Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive combined immunodeficiency. The phenotype is profound T cell deficiency with variable B and NK cell functions and results in recurrent and persistent infections that typically begin in the first year of life. Neurologic findings occur in approximately two-third...

Background Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive combined immunodeficiency. The phenotype is profound T-cell deficiency with variable B- and NK-cell functions and results in recurrent and persistent infections that typically begin in the first year of life. Neurologic findings occur in approximately two-thir...

Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory syndrome with diverse clinical manifestations leading to major diagnostic and therapeutic difficulties. This study aimed to evaluate clinical manifestations, prognostic factors, and long-term outcomes in children with primary HLH. Forty-one patients diagnosed with...

Background: Respiratory viral infections (RVIs) are important complications in pediatric patients undergoing hematopoietic stem cell transplantation (HSCT); however, risk factors for lower respiratory tract infections (LRTIs) are not well characterized. The aim of this study was to determine risk factors for the progression to LRTIs in pediatric p...

Objectives: Sinusoidal obstruction syndrome/venoocclusive disease is a significant complication of hematopoietic stem cell transplantation. Due to high mortality rates, new treatment strategies have been investigated. Here, we have presented outcomes of therapeutic plasma exchange performed on patients with sinusoidal obstruction syndrome/veno-occ...

Giriş: Yenidoğan ve çocuk yoğun bakımındaki gelişmelere bağlı olarak çocuklarda tromboz sıklığı artmaktadır. Arteriyel ve derin ven trombozunda (DVT) ölüm oranları %4-9 ve %2’dir. Kraniyal ve intrakardiyak trombozda ise ölüm oranları daha yüksektir (1,2). Rekombinant doku plazminojen aktivatörü (rtPA) 1990’lı yıllardan beri yenidoğanlarda ve çocukl...

Objective: A questionnaire form was prepared by the Turkish Pediatric Hematology Society- Subcommittee of Hemostasis, Thrombosis and Hemophilia to determine the current approaches in the diagnosis and treatment of childhood ITP in our country. Our aim was to share the results of this study, and to do new, national, multicenter prospective studies....

Introduction: In highly sensitized patients who have panel reactive antibodies (PRAs) before hematopoietic stem cell transplantation, primary graft failure risk may increase. In this study, we aimed to determine the association of PRA with engraftment, and graft versus host disease (GVHD) in pediatric patients. Materials and methods: Forty-three...

Türk Pediatrik Hematoloji Derneği (TPHD)-Hemostaz, Tromboz ve Hemofili Alt Komitesi tarafından ülkemizde çocukluk çağı İTP tanı ve tedavisindeki yaklaşımları belirleme ve sonuçlarını paylaşıp, ulusal, çok merkezli prospektif çalışmalara zemin oluşturabilme adına bir anket formu hazırlandı. Yirmi sorudan oluşan, çoktan seçmeli, ancak verilen şıklar...

Objective: Evaluating systemic thrombolysis experience with recombinant tissue plasminogen activator (rtPA). Materials and methods: Retrospective data were collected from 13 Turkish pediatric hematology centers. The dose and duration of rtPA treatment, concomitant anticoagulant treatment, complete clot resolution (CCR), partial clot resolution (...

Background Haploidentical HSCT is a good option for children with PIDs lacking an HLA-matched donor. Co-transplantation of MSCs during haploidentical HSCT in patients with PIDs may enhance engraftment, decrease the risk of GVHD, and ensure stable donor chimerism. Methods Twenty-seven pediatric patients (median age, 1.4 years; range, .3–10.9) with...

Background Anti-human T-lymphocyte immunoglobulin is commonly used as prophylaxis for graft-versus-host disease after allogeneic hematopoietic stem cell transplantation from unrelated donors. The studies according to optimum dose of ATLG especially in pediatric patients are limited. Patients and Methods Outcomes of 99 pediatric patients diagnosed...

Objectives: The most important problems that limit the effectiveness of allogeneic hematopoietic stem cell transplantation in patients with severe aplastic anemia are graft failure and graft-versus-host disease. Mesenchymal stem cells can support normal hematopoiesis and prevent graft-versus-host disease. We aimed to analyze the effects of combined...

PurposePatients with heterozygous gain-of-function (GOF) mutations in STAT1 frequently exhibit chronic mucocutaneous candidiasis (CMC), immunodeficiency and autoimmune manifestations. Several treatment options including targeted therapies and hematopoietic stem cell transplantation (HSCT) are available for STAT1 GOF patients but modalities and outc...

Background Post‐transplant relapse has a dismal prognosis in children with acute leukemia undergoing allogeneic hematopoietic stem cell transplantation (allo‐HSCT). Data on risk factors, treatment options, and outcomes are limited. Procedure In this retrospective multicenter study in which a questionnaire was sent to all pediatric transplant cente...

Mesenchymal stem cells (MSCs) have been used systemically or locally in many chronic and nonhealing skin lesions in recent years. In this study, umbilical cord-derived MSCs (UC-MSCs)-seeded fibrin matrix was used as a wound dressing in pediatric patients with stage 4 acute graft-versus-host disease (aGVHD)-induced desquamated skin lesions. This is...

We examined outcomes of 51 pediatric patients with relapsed acute leukemia (AL) who underwent a second allogeneic hematopoietic stem cell transplantation (alloHSCT). After a median follow-up of 941 days (range, 69–2842 days), leukemia-free survival (LFS) and overall survival (OS) at 3 years were 26.6% and 25.6%, respectively. The nonrelapse mortali...

Therapeutic plasma exchange (TPE) is an effective treatment method in selective indications. Secondary to access and technical features, it is more difficult to apply in pediatric population than adults. The aim of this study is investigate safety, clinical indications, and results of this method in critically ill pediatric patients who need TPE tr...

IRIS is a phenomenon describing localized inflammatory reactions at BCG vaccination site and development of lymphadenopathy as immune system recovers. It is a rare entity in children following haploidentical HSCT. We represent the successful treatment of a case with fluctuating lymphadenopathy due to BCG vaccine during immune reconstitution period...

Purpose Human signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations present with a broad range of manifestations ranging from chronic mucocutaneous candidiasis and autoimmunity to combined immunodeficiency (CID). So far, there is very limited experience with hematopoietic stem cell transplantation (HSCT) as a t...

Invasive fungal infections (IFIs) are a major cause of infection-related morbidity and mortality in patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT). Data from pediatric settings are scarce. To determine the incidence, risk factors and outcomes of IFIs in a 180-day period post-transplantation, 408 pediatric patients who...

T‐cell‐depleted HAPLO HSCT is an option to treat children with high‐risk acute leukemia lacking an HLA‐identical donor. We reviewed the outcome of children with acute leukemia after HAPLO (n = 21) and HLA‐MUD (n = 32) transplantation. The proportion of patients with ≥CR2 was significantly higher in HAPLO transplantation than MUD transplantation. Pa...

Viral infections remain one of the most important complications following allogeneic HSCT. Few reports compare virus infection between different donor types in pediatric patients. We retrospectively analyzed viral infections and the outcome of one hundred and seventy-one pediatric patients (median 7.38 years) who underwent allogeneic HSCT from matc...

Systemic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis and characterized by arthritis and many systemic features like fever, rash, hepatosplenomegaly, lymphadenopathy and serositis. Macrophage activation syndrome is the most dreadful complication of systemic juvenile idiopathic arthritis and can cause mortality and mor...

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...

Objective: The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey. Materials and methods: A total of 2046 patients from 27 thalassemia centers were reg...

Introduction: There are only a few studies regarding the prevalence of atopy in Familial Mediterranean fever (FMF) patients, and their results are conflicting. Methods: In this study children with the diagnosis of FMF were evaluated for the presence of atopy by comparing with controls. One hundred and eighteen children diagnosed as FMF and 50 he...

The aim of this study was to determine usefulness of measurements of maximal systolic velocity of the hepatic artery with Doppler ultrasonography in the diagnosis of venoocclusive disease (VOD) after hematopoietic stem cell transplantation. We prospectively obtained 5 sonograms per patient: pretransplantation, day +1, +7, +14, and +28 on 36 noncons...

This study evaluated the efficacy of mesenchymal stem cells (MSCs) from bone marrow of a third-party donor for refractory aGVHD. We report the first experience using MSCs to treat refractory aGVHD in 33 pediatric patients undergoing allogeneic HSCT from Turkey. Totally, 68 doses of bone marrow derived MSCs were infused. The median dose of MSC was...

Background: Over last 30 years cure rates are increasing among oncology patients. As the therapy intensifies, infectious complications become more common. Neutropenia is defined as neutrophil counts of <500/mm³ and it is one of the most frequent and severe complications of pediatric cancer therapy. In 12-17% of patients with febrile neutropenia, th...

Kasabach-Merritt phenomenon (KMP) is characterized by vascular tumour and consumptive coagulopathy with life-threatening thrombocytopenia, prolonged prothrombin time and partial thromboplastin time, hypofibrinogenemia, and the presence of high fibrin split products. We report a case of 3-year-old boy with local aggressive vascular lesions associate...

In this study, we aimed to determine serum adrenomedullin levels and compare them with levels of C-reactive protein (CRP) and procalcitonin (PCT). Cancer patients aged 0-18 years who experienced febrile neutropenia attacks were included in the study. Adrenomedullin, CRP, and PCT were analyzed at admission, day 3, and days 7-10 later. Fifty episodes...

Cytomegalovirus (CMV) infection is one of the most common complications after allogeneic hematopoietic stem cell transplantations (HSCT). Valganciclovir (VGC) has increasingly been used as prophylaxis against CMV infection after solid organ transplantation, but data on the efficacy and safety of VGC in pediatric HSCT patients are limited. We presen...

The ABO incompatibility between donor and recipient is not considered a barrier to successful allogeneic HSCT. Nevertheless, conflicting data still exist about the influence of ABO incompatibility on transplant outcome in pediatric patients with thalassemia. Fifty-one children with beta-thalassemia major who underwent allogeneic HSCT were enrolled...

Systemic-pulmonary shunts are widely used in initial palliation in cyanotic congenital heart disease. The incidence and the relationship between acute shunt obstruction and thrombophilia are not precisely defined. The aim of this study was to determine the frequency of shunt obstruction in the early postoperative period, and to define the frequency...

WNT5A is one of the most studied noncanonical WNT ligands and is shown to be deregulated in different tumor types. Our aim was to clarify whether hypermethylation might be the cause of low WNT5A mRNA levels and whether we could restore this downregulation by reversing the event. The expression of WNT5A mRNA was studied in a large acute lymphoblasti...

Achromobacter xylosoxidans is an aerobic gram-negative bacillus and important cause of bacteremia in immunocompromised patients. We describe a leukemia pediatric patient with severe neutropenia who developed bacteremia with A xylosoxidans resistant to multiple antibiotics, and treated the patient with tigecycline and piperacillin-tazobactam in addi...

Lymphomatous involvement of the kidneys is a common manifestation of systemic non-Hodgkin’s lymphoma (NHL). In contrast, lymphoma originating within the kidneys is a rare event in children. In this study we report a case of primary renal lymphoma presenting with acute renal failure in a 14-years-old boy. According to histopathological and immunohis...

Background: Rare factor deficiencies (RFDs) are autosomal recessively inherited coagulation factor deficiencies encountered at a frequency of between one in 500, 000 and one in two million. Materials and methods: One hundred and ninety-two patients, diagnosed as having RFD, followed and treated in our clinic between 1990 and 2013 were retrospect...

Background: In this study, we investigated the effect of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in Turkish patients with a non-syndromic cleft lip with or without palate (NSCL/P). Methods: A total of 88 NSCL/P patients, without any other anomalies and 121 healty controls, who had not any kind of genetic disease, were rec...

Objective: To determine outcome of neuroblastoma (NBL) in children under 18 mo of age who had been treated with national protocols. Methods: The characteristics and treatment outcomes of 27 children were evaluated retrospectively. Results: The event-free survival (EFS) at 60 and 108 mo were 84.7 % ± 7.7 and 72.6 % ± 7.7, respectively. The over...

Aim: To investigate metabolic syndrome (MetS) and MetS criteria, and to establish whether metabolic syndrome criteria were associated with non-alcoholic fatty liver disease (NAFLD) in obese children. Methods: A total of 451 pubertal obese children (8-18 years old) were enrolled in the study. Patients were divided into three groups according to t...

Background The plasminogen activator system controls intravascular fibrin deposition; besides, it also participates in a wide variety of physiologic and pathologic processes, including cancer. Procedure In this study, we examined the levels of plasminogen activator inhibitor 1 (PAI-1) and vitronectin in 32 newly diagnosed pediatric patients with m...

Int J Clin Pediatr. 2014;3(1):12-15 Press Elmer This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited Abstract Background: One of the candidate genes for non-syndromic cleft lip...

The aim of the study is to assess the relationship between T2* magnetic resonance imaging (MRI) values and age, serum ferritin level, left ventricular ejection fraction (LVEF), splenectomy status, and to identify appropriate modifications to chelation therapy based on T2* MRI results of children with thalassaemia major. Sixty-four patients with tha...

Background: In this study, we investigated the effect of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in Turkish patients with a non-syndromic cleft lip with or without palate (NSCL/P). Methods: A total of 88 NSCL/P patients, without any other anomalies and 121 healty controls, who had not any kind of genetic disease, were rec...

Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by periodic attacks of fever and serositis caused by mutations in FMF gene (MEFV). Splenomegaly and lymphadenopathy has been reported in FMF. The abdominal lymphadenopahy was reported in the mesentery during laparotomies for acute abdominal attacks of FMF.

Several genes play role in the etiology of non-syndromic cleft lip with/without palate (NS-CL/P). One of the candidate genes is a member of homeobox gene family, mus-cle segment homeobox 1 (MSX1). To date several different variations were reported in MSX1, some of these variations associated the anomaly with intronic CA repeat allele. The aim of th...

Congenital rare factor deficiencies may present in infancy by life-threatening bleedings or may not show any symptoms until adulthood. It is reported more commonly in countries having consanguineous marriages. Data regarding surgical interventions of rare congenital factor deficiencies are based on case reports and records of guidelines. There are...

Objective: The aim of this study was to evaluate the effects of using ACE inhibitors on insulin resistance, glucose metabolism, body fat composition, and lipid profile in children over 10 years of age with obesity-associated metabolic syndrome (MS). Methods: A total of 53 children with MS, who had been followed for at least one year were included i...

Kaposi sarcoma (KS), a human herpes virus 8 (HHV-8; also called KSHV)-induced endothelial tumor, develops only in a small fraction of individuals infected with HHV-8. We hypothesized that inborn errors of immunity to HHV-8 might underlie the exceedingly rare development of classic KS in childhood. We report here autosomal recessive OX40 deficiency...

We describe the fourth case with a complete PROP1 deletion in homozygosis. The apparent location of the respective 5′ (within a highly repetitive region, rich in Alu sequences) and 3′ (within an Alu sequence) breakpoints, suggests that the deletion may have arisen through homologous recombination. The differentiation between PROP1 mutation associat...

Kawasaki disease is the second most common vasculitis syndrome of childhood. Fever is accepted as sine qua non for the diagnosis. Herein, we report a 17 month-old boy diagnosed as afebrile incomplete Kawasaki disease. Although he had 4 features of Kawasaki disease, his mother denied presence of any fever. The diagnosis was made by clinical criteria...

In this study, we evaluated the effect of transforming growth factor β3 intron 5 position +104 A➝G (TGF-β3 IVS5+104AG) transition in patients with a non-syndromic cleft lip with or without cleft palate (NSCL/P). A total of 68 patients and 114 controls were recruited for the study. A genotyping procedure was carried out using the PCR-RFLP method. Fo...

In this study, we evaluated the effect of transforming growth factor β3 intron 5 position +104 A➝G (TGF-β3 IVS5+104AG) transition in patients with a non‑syndromic cleft lip with or without cleft palate (NSCL/P). A total of 68 patients and 114 controls were recruited for the study. A genotyping procedure was carried out using the PCR-RFLP method. Fo...

Diagnosis of secondary malignancies began with the increasing survival in childhood cancer. Children treated for acute lymphoblastic leukemia (ALL) have an increased risk for developing mucoepidermoid carcinoma (MEC) of the parotid gland. The latent period ranges from 5 to 16 years. A 2 6/12-year-old girl was treated for pro-B ALL. Treatment includ...

Approximately 10% of neonates with Down syndrome may develop a form of megakaryoblastic leukemia that usually disappear spontaneously during the first months of the life. Although it seems to have a benign course, it may also be lethal and severe in some cases, especially in the form of hydrops and/or cardiopulmonary failure. Herein, we report a ma...

Objective: To study the risk factors for hemangioma-related complications, treatment indications and analyze the outcome of patients with infantile hemangioma. Design: Retrospective. Setting: University hospital. Patients: Fifty-five patients (1-69 months; median: 12 months) with infantile hemangioma with mean follow-up 19 months. The eligib...

Congenital factor VII deficiency is the most common form of rare coagulation factor deficiencies. This article presents a retrospective evaluation of 73 factor VII deficiency cases that had been followed at our center. The study consisted of 48 males and 25 females (2 months-19 years). Thirty-one (42.5%) of them were asymptomatic. Out of symptomati...

ZET İzole dudak-damak yarıklı Türk çocuk hastaların bölgesel dağılımı ve olası bölgesel etkiler Amaç: İzole dudak-damak yarıkları multifaktöriyel anomaliler ara-sında yer almaktadır. Bu retrospektif-tanımlayıcı çalışmada izole dudak-damak yarıklı Türk çocuk hastaların Türkiye'deki bölgesel dağılımlarını inceleyerek bölgesel ve yaşam tarzlarının, an...

Despite the introduction of new broad-spectrum antibiotics and antifungal therapies over the past decade, infections remains the most frequent cause of death in patients with neutropenia. The aim of this study is to assess the effect and safety of granulocyte transfusions (GTX) for the treatment of severe life-threatening infections in pediatric pa...

B-lineage acute lymphoblastic leukemia (B-ALL) is a common subtype of acute leukemia in children. PAX5 plays a central role in B-cell development and differentiation. In this study, we analyzed PAX5 expression levels, transactivation domain mutations/deletions in B-ALL patients (n=115) and healthy controls (n=10). Relative PAX5 mRNA levels were sig...

Matrix metalloproteinases 1 and 3 (MMP1 and MMP3) are metal dependent endopeptidases responsible for hydrolyzing extracellular matrix molecules, and also have important roles during the matrix destruction in temporomandibular joint (TMJ) degeneration. In the present study, we aimed to investigate the relation between characterized promotor polymorp...

Objective: Mixed lymphocyte culture (MLC) is one of the routine tests performed prior to hematopoietic stem cell transplantation (HSCT) as a predictive assay for assessing the quality of donor matching and graft-versus-host disease (GVHD). The stimulation index is one of the formulas of the MLC test, and it is used for evaluation of matching betwe...

4329 With the recent developments in the treatment of ALL life expectancy is prolonged and complications due to therapy are increased. Combined chemotherapy may be applied in combination with distinct doses and schema of cranial radiotherapy according to the risk groups of patients. CRT damages the hypothalamus-hypophysis axis and affects the secre...

The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage commitment. NOTCH1 and FBXW7 mutations both lead the activation of the NOTCH1 pathway and are found in the majority of T-ALL...

Li-Fraumeni syndrome (LFS) is one of the familial cancers characterized by different tumors and hereditary TP53 mutations. The adrenocortical carcinoma (ACC) association with acute leukemia is unusual in childhood, even in LFS. The authors here present a family with pR337P mutation in TP53 gene who had a child with acute lymphoblastic leukemia (ALL...

The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage commitment. NOTCH1 and FBXW7 mutations both lead the activation of the NOTCH1 pathway and are found in the majority of T-ALL...

Pediatric patients with malignancy are at high risk of thromboembolic complications due to complex interactions of a variety of factors such as the malignancy, chemotherapy, central venous catheters (CVCs), infections, dehydration, and hereditary thrombophilia. In this study, deficiencies of protein C (PC), protein S (PS), and antithrombin (AT), ac...

Systemic juvenile xanthogranuloma is a rare disease in children. A 10-year-old boy who showed renal, pulmonary, and liver involvement is reported. He had pulmonary invasion, renal mass, and nodular liver lesions but no bone involvement. The diagnosis was confirmed by renal biopsy, which revealed foamy, lipid-laden macrophages with positive CD68, bu...

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, with the survival rates up to 80–90%, but in high-risk patients the survival rate is still unsatisfactory. The aim of this study is to analyze the pediatric ALL data of a single pediatric university center between 1987–2005 retrospectively to identify risk factors effecting...

Leukemic cell ploidy is known risk factor in childhood leukemia. Hypodiploidy (DNA index < 1.00 or chromosome number <46) was shown as adverse prognostic factor in many study. The cause of poor prognosis is not known. Cellular drug resistance might provide important information on this subject. In this study, we want to evaluate LC50 (lethal concen...