Publications by authors named "H Apak"
Background: There is limited information on the natural course of chronic ITP in children. We aimed to evaluate the clinical and demographic characteristics of children with chronic ITP in the era before the availability of eltrombopag.
Methods: A total of 86 children with chronic ITP between 1978-2014 were included.
Background: Osteopetrosis and related osteoclastic disorders are a heterogeneous group of inherited diseases characterized by increased bone density. The aim of this study is to investigate the molecular spectrum and natural history of the clinical and radiological features of these disorders.
Methods: 28 patients from 20 families were enrolled in the study; 20 of them were followed for a period of 1-16 years.
The Beckwith-Wiedemann spectrum (BWSp) ranges from isolated lateralized overgrowth (ILO) to classic phenotypes. In this broad clinical spectrum, an epigenetic alteration on chromosome 11p15.5 can be detected.
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- The study investigates the genetic causes and long-term outcomes of metaphyseal chondrodysplasias in 24 Turkish patients with a focus on specific gene mutations.
- Seven pathogenic variants were found in the COL10A1 gene significantly impacting disease severity, particularly in patients with missense mutations.
- Additionally, mutations in other genes like RMRP and LBR contributed to prenatal onset short stature and abnormalities, showcasing the genetic diversity and clinical features of these conditions.
Background: Central nervous system fungal infections (CNSFI) are seen in patients with hematologic malignancies and have high morbidity and mortality. Because of their rarity, there is limited data on CNSFI in children with no established treatment protocols or guidelines.
Materials And Methods: In this multicenter retrospective study, 51 pediatric patients with leukemia, 6 of whom had undergone bone marrow transplantation, with proven or probable CNSFI were evaluated.