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Öğe Dysgerminoma in a child with ataxia-telangiectasia(TAYLOR & FRANCIS INC, 2007) Koksal, Yavuz; Caliskan, Umran; Ucar, Canan; Yurtcu, Muslim; Artac, Hasibe; Ilerisoy-Yakut, Zeynep; Reisli, IsmailAlaxia - telangiectasia is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, high incidence of cancer; and increased sensitivity to ionizing radiation. The authors report a case of dysgerminoma in a child with high alpha-fetoprotein, CA125 and beta-human chorionic gonadotropin, who has been followed-up for ataxia-letangiectasia for 2 years.Öğe Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors(LIPPINCOTT WILLIAMS & WILKINS, 2008) Fidanci, Inang D.; Kavakli, Kaan; Ucar, Canan; Timur, Cetin; Meral, Adalet; Kilinc, Yurdanur; Sayilang, HuelyaFactor VIII (FVIII) replacement therapy is ineffective in hemophilia A patients who develop alloantibodies (inhibitors) against FVIII. The type of factor 8 (F8) gene mutation, genes in the major histocompatibility complex loci, and also polymorphisms in IL-10 and tumor necrosis factor-alpha are the major predisposing factors for inhibitor formation. The present study was initiated to reveal the F8 gene mutation profile of 30 severely affected high-responder patients with inhibitor levels of more than 5 Bethesda U (BU)/ml and four low-responder patients with inhibitors less than 5 BU/ml. Southern blot and PCR analysis were performed to detect intron 22 and intron 1 inversions, respectively. Point mutations were screened by DNA sequence analysis of all coding regions, intron/exon boundaries, promoter and 3' UTR regions of the F8 gene. The prevalent mutation was the intron 22 inversion among the high-responder patients followed by large deletions, small deletions, and nonsense mutations. Only one missense and one splicing error mutation was seen. Among the low-responder patients, three single nucleotide deletions and one intron 22 inversion were found. All mutation types detected were in agreement with the severe hemophilia A phenotype, most likely leading to a deficiency of and predisposition to the development of alloantibodies against FVIII. It is seen that Turkish hemophilia A patients with major molecular defects have a higher possibility of developing inhibitors.Öğe Hepatoblastoma in a child with neurofibromatosis type I(WILEY-BLACKWELL, 2007) Ucar, Canan; Caliskan, Umran; Toy, Hatice; Gunel, EnginA major hallmark of NF1 is the development of benign tumors, including peripheral neurofibromas, plexiform neurofibromas, gliomas of the optic tract, other low grade gliomas, and pheochromocytomas. Hepatoblastoma have not been previously reported in patients with neurofibromatosis type 1. We present a case of a 9-month-old boy diagnosed with both hepatoblastoma and neurofibromatosis type 1. Hepatoblastoma occurs in association with several well-described cancer predisposition syndromes, including familial adenomatous polyposis, Beckwith-Wiedemann syndrome, Li-Fraumeni syndrome, trisomy 18, and glycogen storage disease type 1. This paper describes a case of hepatoblastoma diagnosed in association with neurofibromatosis type 1.Öğe Malignancy-associated hemophagocytic lymphohistiocytosis in pediatric cases: a multicenter study from Turkey(TURKISH J PEDIATRICS, 2009) Celkan, Tiraje; Berrak, Su; Kazanci, Elif; Ozyurek, Emel; Unal, Sule; Ucar, Canan; Yilmaz, SebnemThis study evaluates the clinical and laboratory data of children with secondary hemophagocytic lymphohistiocytosis (sHLH) related to malignancy. Charts of patients who met the diagnostic criteria for sHLH associated with malignancy between January 2000-2006 at six different hospitals in Turkey were reviewed retrospectively. The diagnosis of HLH had been established by bone marrow aspiration in 27 patients, cerebrospinal fluid and bone marrow aspiration in one patient and lung-liver biopsy in another. Twenty-nine children were diagnosed as having sHLH related to malignancy. Twenty cases (18 ALL and 2 AML) with acute leukemia (10 girls/10 boys, median age: 8 years [3-14 years]) were found to have sHLH. Five patients with acute leukemia had HLH at the time of diagnosis (Group 1a), and 15 patients with acute leukemia were diagnosed as having sHLH during therapy (Group 1b), namely reactive sHLH associated with the chemotherapy. Nine patients, including two cases each of rhabdomyosarcoma, neuroblastoma, Hodgkin disease, and non-Hodgkin lymphoma (NHL) and one case with Langerhans cell histiocytosis, were diagnosed as having concomitant hemophagocytosis at the initial evaluation of the tumor (Group 2). Fever, anemia, and hypertriglyceridemia were present in all sHLH cases of all three groups. Hepatomegaly was detected in 60.0%, 73.3%, and 88.8% of the three groups, respectively. Splenomegaly was more frequent in patients of Groups la (60.0%) and 2 (88.8%) than in those of Group 1b, the reactive ones (13.3%). Hypofibrinogenemia was detected in all patients of Group la and Group 2. Low level of fibrinogen was present in 91.6%% of patients in Group 1b. All patients in Group 1b (100%) had neutropenia and thrombocytopenia. Neutropenia was found at rates of 60.0% and 55.5% in Group la and Group 2, respectively. Thrombocytopenia was detected in 80.0% of patients in Group la and 77.7% in Group 2. The overall mortality rate was 34.4% (10 cases) in our series of 29 children with sHLH; 50% of deaths were directly attributable to HLH. Pediatric malignancy-associated HLH patients have been commonly described as case presentations or in a review of the literature. We believe that our cohort, compiling 29 children regarding the association between malignancy and HLH, will be useful for pediatricians who are interested in this still mysterious topic.Öğe Pyoderma gangrenosum in a battered child(LIPPINCOTT WILLIAMS & WILKINS, 2006) Keskin, Mustafa; Tosun, Zekeriya; Ucar, Canan; Savaci, NedimPyoderma gangrenosum is an uncommon cutaneous ulceration, which continues to be a difficult disorder to diagnose and treat. A pediatric case of pyoderma gangrenosum with no associated systemic disorder is presented. The disease was precipitated by physical trauma. The disease was controlled with systemic corticosteroid therapy and then the wound was successfully covered with a split-thickness skin graft from the thigh without any healing problem at the donor site. Although pathergy is well described in the etiopathogenesis of the disease, this is the first case reported that was precipitated after physical assault.
