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Öğe Acute Myelomonocytic Leukemia in a Boy With Leopard Syndrome (Ptpn11 Gene Mutation Positive)(Lippincott Williams & Wilkins, 2006) Uçar, Canan; Çalışkan, Ümran; Martini, Susanne; Heinritz, WolframThe LEOPARD syndrome is a complex of multisystemic congenital abnormalities characterized by lentiginosis, electrocardiographic conduction abnormalities. ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). Mutations in PTPNII, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q24. 1, have been identified in 88% of patients with LEOPARD syndrome. A missense mutation (836 -> G; Tyr279Cys) in exon 7 of PTPNII gene was identified in this patient and his mother with LEOPARD syndrome. This mutation is one of the two recurrent mutations most often associated with the syndrome. Leukemia has not previously been reported in patients with LEOPARD syndrome. The authors describe a 13-year-old boy diagnosed with both LEOPARD syndrome and acute myelomonocytic leukemia (AML-M4).Öğe Autoimmune Hemolytic Anemia as Presenting Manifestation of Primary Splenic Anaplastic Large Cell Lymphoma(Turkish J Pediatrics, 2006) Köksal, Yavuz; Çalışkan, Ümran; Uçar, Canan; Erekul, Selim; Yakut, Zeynep İlerisoyAutoimmune hemolytic anemia (AIHA) is an unusual complication of malignancy. We diagnosed primary splenic anaplastic large cell lymphoma (ALCL) in a patient. A seven-year-old boy presented with Coombs test-positive hemolytic anemia. After a course of prednisolone therapy, a complete response for anemia was achieved. Twenty months later, in addition to severe hemolytic anemia, the patient was diagnosed with ALCL after splenectomy and pathologic examination of the sample. The recognition of this clinical picture as a complication of non-Hodgkin's lymphoma has important implications. The most effective management of AIHA in the setting of cancer is to treat the underlying malignancy.Öğe A Burkitt's Lymphoma Case With Eyelid, Renal and Pulmonary İnvolvement(Turkish J Pediatrics, 2006) Köksal, Yavuz; Reisli, İsmail; Uçar, Canan; Avunduk, Mustafa; Açıkgözoğlu, Saim; Çalışkan, ÜmranAn eight-year-old boy was admitted with a three-week history of painless masses on the left upper eyelid, in front of the left ear and on the left side of his jaw. On examination, there was a 3x2 cm tumor on the left upper eyelid, and lymphadenopathies in front of the tragus and in the left submandibular area were observed in the absence of hepatosplenomegaly. Complete blood count, peripheral smear and bone marrow aspiration were normal. After the left submandibular lymphadenopathy was removed, he was diagnosed with Burkitt's lymphoma by pathological examinations. Thorax and abdomen computed tomography showed pulmonary and renal involvement. On the seventh day of treatment, eyelid involvement disappeared. After induction therapy, no renal or pulmonary lesions were observed. An unusual clinical presentation of Burkitt's lymphoma with eyelid and pulmonary involvement is reported.Öğe Can flow-cytometry be used at diagnosis and follow-up in neuroblastoma with bone marrow involvement?(2006) Köksal, Yavuz; Reisli, İsmail; Doğu, Figen Esin; Uçar, Canan; Acar, Hasan; Çalışkan, ÜmranA 4.5-year-old boy was admitted to our clinic with fever, which had persisted for one month, weakness, and hand, arm and knee pain. Physical examination was remarkable for pallor, the movement of the right knee was painful and restricted, yet both knees were same in diameter. The peripheral blood smear revealed moderate immature lymphocytosis. Bone marrow aspiration revealed uniform cells with narrow cytoplasm and hyperchromatic nuclei which formed a "rosette" scene. On bone marrow flow-cytometry examination, CD45(-)/CD44(+)/CD56(+) cells were 70% positive. The urinary VMA level was 41.6 mg/24 h. There was an anterior paramediastinal mass and vertebral destructions in thoracal computed tomography (CT). Cranial CT and magnetic resonance imaging (MRI) revealed duramater involvement and numerous subdural tumors. A paravertebral mass that extended into the spinal canal was determined with spinal MRI. Stage IV neuroblastoma (NB) was diagnosed and ENSG-3C chemotherapy protocols including cisplatin, etoposide, ifosfamide, mesna, vincristine and adriamycine was given. After two cycle of the chemotherapy, bone marrow aspiration was normal and CD45(-)/CD44(+)/CD56(+) cells were 5% positive. Following treatment, he has been in remission for 18 months. Flow-cytometry may be useful for the diagnosis and follow-up of NB with bone marrow involvement.Öğe Correlation Between Down Syndrome and the Level of Placental Alkaline Phosphatase in Amniotic Fluid(2005) Uçar, Canan; Balcı, Sevim; Tunçbilek, Ergül; Ünsal, İbrahimThe aim of this study was to investigate the correlation between Down syndrome and the level of placental alkaline phosphatase (PLAP) in amniotic fluid. A total of 279 amniotic fluid samples taken between 14 and 24 gestational weeks were investigated in this study. Karyotype analysis was made in all samples. In 10 samples trisomy 21 was determined, in one sample trisomy 18, in two samples 47,XXY, in six samples various structural chromosomal anomalies and in 260 samples normal karyotype. PLAP was measured using a fluorometric heat inactivation assay. Mean PLAP multiples of normal gestational median (MOM) value in samples with Down syndrome was 0.44 MOM, and in those with normal karyotype was 1.14 MOM. In fetuses with Down syndrome, amniotic fluid PLAP levels were significantly reduced (p = 0.002). There was no difference between mean PLAP MOM values in samples with normal karyotype and in those with structural chromosomal abnormality (p = 0.47). When 0.37 MOM was accepted as a cut-off value of PLAP activity in amniotic fluid, detection rate (sensitivity) of the test was 50%, specificity was 94%, and false-positive rate was 5.8%. We conclude that PLAP levels are reduced in the amniotic fluid of women carrying a fetus with Down syndrome.Öğe Criteria for Judging the Improvement in Subclinical Rheumatic Valvitis(CAMBRIDGE UNIV PRESS, 2003) Karaaslan, Sevim ; Demiroren, Saadet; Oran, Bülent; Baysal, Tamer; Başpinar, Osman; Uçar, CananRecent technical improvements in cross-sectional echocardiography have made it possible to detect even mild organic regurgitation of the mitral and aortic valves in patients with acute rheumatic fever. To determine the prevalence and prognosis of subclinical valvitis, we have analyzed 104 patients with acute rheumatic fever referred to our institution. Of 53 patients who had no murmur, 22 of them with polyarthritis, 29 with chorea, and 2 with polyarrhritis and chorea, 23 (43.4%) had subclinical valvitis. Isolated mitral regurgitation was the most common valvar lesion, seen in 82.6% of the patients. Isolated aortic regurgitation was detected in 4.4%, of the cases, and combined mitral and aortic regurgitation in the remaining 13%. During follow-up, the degree of mitral regurgitation improved in 59.1%, decreased in 18.2%, and increased or remained unchanged in 22.7% according to the length of colour jet. According to criterions of velocity, mitral regurgitation improved in 86.4% of the patients, and increased or unchanged in the remaining 13.6%. Mitral regurgitation disappeared completely in 6 of the patients (27.3%) as judged according to both the length of colour jet and the velocity of regurgitation. Aortic regurgitation improved in all the patients with this problem, disappearing completely in two of the four. Based on this experience, we suggest that not only the disappearance of regurgitation, but also improvements in the echocardiographic diagnostic criterions of regurgitation, such as the length of the colour jet less than 1 cm, or velocity less than 2.5 m/s, or indicative of regurgitation that is either intermittent or of short duration, should also be considered as criterions indicating improvement in valvar regurgitation in patients with subclinical rheumatic valvitis.Öğe Sistemik tutulum ile giden Langerhans hücreli histiositozis'li üç vaka sunumu(2004) Köksal, Yavuz; Gülyüz, Abdülgani; Çalışkan, Ümran; Reisli, İsmail; Uçar, CananLangerhans hücreli histiositozlar, dentritik hücre sistemine ait hücrelerinin proliferasyonu sonucu ortaya çıkan nadir bir hastalık olup, vücudun herhangi bir yerini tutan izole bir lezyon ya da yaygın sistemik bir hastalık olarak görülebilir. Burada deri biyopsilerinden Langerhans hücreli histiositozis tanısı konulan, klinik tablolarında döküntü, hepatosplenomegali ve anemi ile birlikte kafa kemiklerinde litik lezyonları olan 27 aylık erkek çocuk ile on altı aylık kız çocuk ve timus tutulumu olan dokuz aylık kız hastanın klinik ve laboratuar bulguları literatür ışığı altında tartışıldı.Öğe A Suprarenal Mass in a Child(SPRINGER, 2006) Güçer, Şafak; Çalışkan, Ümran; Uçar, Canan; Köksal, Yavuz; Dilsiz, Alaettin; Kale, Gülsev[Abstract not Available]
