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Öğe 657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population(WAYNE STATE UNIV PRESS, 2005) Tekin, M; Akcayoz, D; Ucar, C; Gulen, H; Akar, NThe 657de15 mutation of the NBS1 gene has been demonstrated in most patients with Nijmegen breakage syndrome (NBS). We identified four Turkish families in which probands were diagnosed as having NBS and found to be homozygous for the 657de15 mutation. The 657de15 allele in the four Turkish families had a single origin.Öğe A case of primary ovarian lymphoma in a child with high levels of CA125 and CA19-9(LIPPINCOTT WILLIAMS & WILKINS, 2005) Koksal, Y; Caliskan, U; Ucar, C; Reisli, IPrimary ovarian lymphoma is extremely rare in children. The authors report a case of primary ovarian lymphoma in a child with high levels of CA125 and CA19-9. To their knowledge, this is the first such case to be reported in the literature.Öğe Periodontal status in two siblings with severe congenital neutropenia: Diagnosis and mutational analysis of the cases(AMER ACAD PERIODONTOLOGY, 2005) Hakki, SS; Aprikyan, AAG; Yildirim, S; Aydinbelge, M; Gokalp, A; Ucar, C; Guran, SBackground: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, was originally reported as an autosomal recessive disease of neutrophil production. The disease is characterized by a maturation arrest of neutrophil precursors at the promyelocytic stage of differentiation and by extremely low levels of mature neutrophils in peripheral blood. Methods: A 6-year-old male presented with a complaint of gingival swelling and bleeding, and swelling at the left side of his face. Upon clinical examination, severe inflammation of all gingival tissues was apparent, and a periapical abscess with mobility was noted on the left mandibular second molar. Medical and dental histories revealed numerous recurrent bacterial infections associated with oral and non-oral tissues. His medical history with recurrent infections led us to evaluate his 3-year-old sister to determine the status of her oral health. Inflammation of her oral tissues and recurrent bacterial infections were apparent. Their consanguineous parents were in good health. To assist in identifying possible systemic diseases underlying the inflammatory situation in the siblings, consultations were requested from the Pediatric Hematology Department at Selcuk University and Pediatric Oncology Department at Gulhane Military Medical Academy. Results: Based on absolute neutrophil count (<= 200/mm(3)) and bone marrow aspiration findings consistent with early maturation arrest in myelopoiesis, the cases were diagnosed as SCN. No chromosomal abnormality was detected upon cytogenetic examination. Sequencing analysis also revealed no mutation in the neutrophil elastase or growth factor independent-1 (GFI-1) genes in these patients. Severe periodontal disease, attachment loss, and mobility for over 50% of the deciduous teeth were noted. Within 6 months, the male sibling lost all of his deciduous teeth due to periapical and periodontal infections. His sister presented with tooth mobility for all mandibular incisors. Monthly visits, including scaling, polishing, and 0.2% chlorhexidine digluconate irrigation were performed to support their oral hygiene and to avoid recurrent oral infections. We have been able to stabilize these patients' periodontal conditions during a 2-year follow-up period. Conclusion: This case report emphasizes the role of periodontists and pediatric dentists in the diagnosis of diseases linked with neutrophil and other systemic disorders and highlights the need to optimize the health of oral tissues with regular appointments.Öğe Successful treatment of acute lymphoblastic leukemia with L-asparaginase-induced intracranial hemorrhage to activated recombinant factor VIIA in a child(TAYLOR & FRANCIS INC, 2006) Ucar, C; Caliskan, UL-Asparaginase, a major component of therapy in children with acute lymphoblastic leukemia, has been shown to induce coagulopathy by inhibiting synthesis of clot-forming and clot- inhibitory proteins. The authors report the successful use of recombinant factor VIIa in a 15-year-old girl with acute lymphoblastic leukemia who had L-asparaginase-induced intracranial hemorrhage. The present case is the first to demonstrate use of rFVIIa in L-asparaginase-induced intracranial hemorrhage in a child with acute lymphoblastic leukemia.