A5015060725- Congenital gastrointestinal and neural anomalies
- Autoimmune and Inflammatory Disorders Research
- Blood Coagulation and Thrombosis Mechanisms
- Hemoglobinopathies and Related Disorders
- Intestinal Malrotation and Obstruction Disorders
- Childhood Cancer Survivors' Quality of Life
- Folate and B Vitamins Research
- Hematopoietic Stem Cell Transplantation
- Platelet Disorders and Treatments
- Hemophilia Treatment and Research
- Iron Metabolism and Disorders
- Metabolism and Genetic Disorders
- Hematological disorders and diagnostics
- Pharmacological Effects and Toxicity Studies
- Infections and bacterial resistance
- Neonatal Health and Biochemistry
- Acute Myeloid Leukemia Research
- Parvovirus B19 Infection Studies
- Neurological Complications and Syndromes
- Neutropenia and Cancer Infections
- Blood groups and transfusion
- Acute Lymphoblastic Leukemia research
- COVID-19 Clinical Research Studies
- Erythrocyte Function and Pathophysiology
- Adolescent and Pediatric Healthcare
Istanbul Yeni Yüzyıl University
2020-2025
Van Yüzüncü Yıl Üniversitesi
2025
University of Health Sciences Antigua
2021-2023
Sağlık Bilimleri Üniversitesi
2020-2023
University of Health Sciences
2019-2021
Izmir Tepecik Eğitim ve Araştırma Hastanesi
2017-2020
Education Training And Research
2020
University of Health Science
2019
Ege University
2018
Başkent University
2007-2016
Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. It generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed better delineate phenotype, natural history, genotype-phenotype correlations MWS.In collaborative study, analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described prevalence all aspects,...
Abstract Recent studies have emphasized the presence of airway hyperreactivity (AHR) in children with sickle cell disease (SCD). However, various tests for detection AHR yielded distinctly different results these patients. This study identified via a methacholine challenge test (MCT) group SCD (31 patients; age range, 6–16 years). The pulmonary function (PFTs) patients and age‐matched controls (30 healthy children) were investigated compared. A positive result was noted 25 (77.5%). We found...
PurposeMowat–Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital eye anomalies, heart defects, caused haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern brain dysmorphology in MWS has been defined.MethodsThrough magnetic resonance imaging (MRI) analysis, we delineated neuroimaging phenotype 54 patients with proven defect,...
Abstract Mowat–Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and characterized distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities other congenital malformations. Epilepsy considered main manifestation syndrome, with prevalence about 70–75%. In order delineate electroclinical phenotype epilepsy in MWS, we investigated onset evolution, including seizure types, EEG response...
Background/Aims: Preimplantation genetic diagnosis (PGD) with human leukocyte antigen (HLA) typing represents a significant advancement in treating inherited hematological disorders, particularly thalassemia major.This technology enables the birth of healthy children who can serve as compatible stem cell donors for their affected siblings.Turkey is world leader both PGD+HLA and hematopoietic transplantation from savior siblings born through typing.Aims: This study investigated experiences...
Abstract Primary hemophagocytic lymphohistiocytosis (p-HLH) can be cured with allogeneic haematopoietic stem cell transplantation (allo-HSCT). It remains unclear whether HSCT outcomes are affected by the presence of different genetic mutations. We used data obtained from children who underwent allo-HSCT for HLH to examine effects mutations on outcomes. Data 153 paediatric patients in 18 centres were retrospectively evaluated. Patients divided into four groups: 1) PRF1 mutation ( n = 46), 2)...
Mowat–Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical including heart disease, Hirschsprung hypospadias, agenesis of the corpus callosum, short stature, epilepsy, microcephaly. Less common clinical include ocular anomalies, craniosynostosis, mild disability, choanal atresia. These cases may be more difficult diagnose. In this report, we add 28 MWS...
Ophthalmologic disease in patients with acute leukemia occurs due to primary leukemic infiltration (involvement), or secondary the and its treatment. In recent years life expectancy of has increased advent modern therapies. The present study aimed determine incidence ocular manifestations children leukemia.The included 120 diagnosed at Başkent University Hospital, Pediatric Hematology Department between 1995 2010. All were examined by an ophthalmologist via direct indirect...
Since the beginning of Syrian civil war, more than 3.5 million Syrians have been under temporary protection status in Turkey. Because beta-thalassemia (BT) is a prevalent disorder Mediterranean countries, we decided to estimate prevalence and make an overview demographic, socioeconomic, medical characteristics, healthcare problems refugee children with BT.Eighteen Turkish Pediatric Hematology Oncology Centers (PHOC) 318 from 235 families participated study. The mean age patients was 8.1 ±...
Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It characterized moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations which congenital heart defects urogenital anomalies are most frequent ones. To date, clear description physical development MWS patients does not exist. The aim this study to provide up-to-date growth charts specific for...
Pancreatic infiltration with leukemic cells is a rare manifestation of acute lymphoblastic leukemia. There are only few reported cases. We report the clinical and radiologic findings 4-year-old boy mature B-cell leukemia pancreatic involvement. A computed tomography scan his abdomen demonstrated diffuse hypodense lesions in pancreas. Plasma amylase lipase levels at that time were high, but no signs hypoglycemia or hyperglycemia observed. After 2 cycles chemotherapy, pancreas, liver, kidney...
This study was conducted to analyze the incidence of and risk for thrombosis in thrombotic children monitored Department Pediatric Hematology our hospital at time diagnosis, addition clinical characteristics those patients. The laboratory findings 122 patients diagnosed with from 1997 2006 were retrospectively analyzed. 88.6/10,000 admissions. authors found that 31.1% studied had a more than 1 region. by anatomic site as follows: 42 thromboses peripheral arterial system, 39 an intracardiac...
A 10-year-old girl who presented to our hospital was diagnosed as having B-precursor cell acute lymphoblastic leukemia. St Jude's Total XIII protocol started. In the second block of consolidation phase, 10 hours after triple intrathecal treatment, we realized that instead 12 mg, 120 mg methotrexate had accidentally been given. Although patient no symptoms prevent possible neurotoxic effects methotrexate, a cerebrospinal fluid exchange performed. Simultaneously, systemic dexamethasone and...
Objective: Immune thrombocytopenia (ITP) is a rare autoimmune disease and hematologic disorder characterized by reduced platelet counts that can result in significant symptoms, such as bleeding, bruising, epistaxis, or petechiae.The thrombopoietin receptor agonist eltrombopag (EPAG) second-line agent used to treat chronic ITP purpura adults children. Materials Methods:The present retrospective study evaluated the efficacy, safety, side effects of EPAG treatment pediatric patients with acute...
Ifosfamide (IFO) is an alkylating agent used to treat broad range of malignancies. One the life-threatening toxic effects reversible neurotoxicity. In this report; we presented a case report ifosfamide induced encephalopathy (IIE) in child with osteosarcoma order emphize that it important continue treatment as well importance potentially fatal complication.Following 20th week treatment, patient's follow-up diagnosis developed neurological findings. Laboratory analyzes before and after...
Early detection of primary hypertension (HT) is essential to prevent the development end organ damage, especially in patients with a family history HT. Physicians must pay great attention during follow-up these children. Our aim was investigate whether children hypertensive parents are under risk HT or not by using ambulatory blood pressure measurement (ABPM). Seventy-nine healthy were enrolled study: 39 positive familial (study group) and 40 without (control group). Complete count,...