Canan Albayrak

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Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. In 2000, we found that mutations in the TCIRG1 gene encoding for a subunit of the proton pump (V-ATPase) are responsible for more than one-half of ARO cases. Since then, five additional genes have been demonstrated to be(More)
The objective of this study was to assess the effects of concha bullosa variation on maxillary sinus volume and uncinate angle. The study group included 169 patients (338 sides) who underwent either surgical or medical treatment with the diagnosis of chronic rhinosinusitis. The paranasal sinus computed tomography of these patients was analyzed to measure(More)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive genetic defect that can cause hemolytic crisis. However, this disease affects both males and females. In Turkey, the frequency of this enzyme deficiency was reported to vary, from 0.25 to 18%, by the geographical area. Its prevalence in the northern Black Sea region of Turkey is(More)
OBJECTIVE To define the status of juvenile myelomonocytic leukemia (JMML) patients in Turkey, in terms of time of diagnosis, clinical characteristics, mutational studies, clinical course and treatment strategies. MATERIALS AND METHODS Data including clinical and labarotory characteristics and treatment strategies of JMML patients were collected(More)
Osteoporosis in hemophilic patients is a significant problem. The causes of osteoporosis in hemophilic patients are lack of adequate exercise, multiple hemorrhage and inflammation, and low vitamin D levels. The aim of this study was to retrospectively determine the frequency of vitamin D deficiency and insufficiency in children with severe hemophilia A.(More)
BACKGROUND To evaluate the clinical feature and outcome of invasive fungal infections (IFI) in children with hematologic and malign diseases. PATIENTS AND METHODS The medical records of children with hematologic and malignant diseases, who were hospitalized at our hospital between January 2010 and December 2011, were reviewed. Proven, probable, and(More)
Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the(More)
Presenting with severe thrombocytopenia and pancytopenia is rare in children with brucellosis, and at the beginning it can be misdiagnosed as a hematological or a viral hemorrhagic disease. The follow-ups of 52 patients diagnosed with brucellosis from January, 2008, to December, 2013, in our clinic have shown the following results. Eleven out of these 52(More)
To the Editor: Rickets is an illness which is seen in childhood due to the lack of vitamin D. Myelofibrosis is rarely associated with rickets. Say and Berkel [1] described the first case of rickets associated with myelofibrosis. All the reported cases are in infanthood [1–13]. We diagnosed and treated myelofibrosis associated with rickets in a 10-year-old(More)
Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray(More)
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