Yazar "Patiroglu, Turkan" seçeneğine göre listele

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    ALLOGENEIC BONE MARROW TRANSPLANTATION IN THREE CASES WITH DOCK 8 DEFICIENCY
    (Wiley, 2018) Patiroglu, Turkan; Cansever, Murat; Ozcan, Alper; Ucan, Gulsah; Keles, Sevgi; Unal, Ekrem; Talal, Chatila
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    Group 3 innate lymhoid cells are absent in DOCK8-defective HIES patients
    (Amer Assoc Immunologists, 2018) Eken, Ahmet; Okus, Fatma Zehra; Patiroglu, Turkan; Erdem, Serife; Karakukcu, Musa; Cansever, Murat; Donmez-Altuntas, Hamiyet
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    Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry
    (Wiley, 2019) Karapinar, Deniz Yilmaz; Patiroglu, Turkan; Metin, Ayse; Caliskan, Umran; Celkan, Tiraje; Yilmaz, Baris; Karakas, Zeynep
    Background Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent. Method Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered. Results The most frequently observed mutation was HAX1 mutation (n = 78, 36.1%). A heterozygous ELANE mutation was detected in 29 patients (13.4%) in our cohort. Biallelic mutations of G6PC3 (n = 9, 4.3%), CSF3R (n = 6, 2.9%), and JAGN1 (n = 2, 1%) were also observed. Granulocyte colony-stimulating factor treatment was given to 174 patients (80.6%). Two patients died with infectious complications, and five patients developed myelodysplastic syndrome/acute myeloblastic leukemia. The mean (+/- mean standard error) follow-up period was 129.7 +/- 76.3 months, and overall survival was 96.8% (CI, 94.4-99.1%) at the age of 15 years. In Turkey, severe congenital neutropenia mostly resulted from the p W44X mutation in the HAX1 gene. Conclusion In Turkey, mutation analysis should be started with HAX1, and if this is negative, ELANE and G6PC3 should be checked. Because of the very high percentage of consanguineous marriage, rare mutations should be tested in patients with a negative mutation screen.
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    Multicentric analysis of childhood tuberculosis in Turkey
    (Turkish J Pediatrics, 2013) Pekcan, Sevgi; Aslan, Ayse Tana; Kiper, Nural; Uysal, Gulnar; Gurkan, Fuat; Patiroglu, Turkan; Ozturk, Mustafa
    Only a few series of pediatric tuberculosis (TB) have been reported in the last 20 years. The purpose of this study was to evaluate the clinical, radiological, microbiological, and treatment characteristics of childhood TB. A total of 539 children with childhood TB diagnosed over a 12-year period (1994-2005) in 16 different centers in Turkey participated in the study. The medical records of all childhood TB patients were investigated. A total of 539 children (274 males, 265 females) with childhood TB aged 10 days-17 years participated in the study. Age distribution was nearly equal among all age groups. We detected the index case in 39.8% of the patients. More than one index case was detected in 17.3% of the patients. A minimum 15-mm induration is accepted on tuberculin skin test (TST) following Bacillus Calmette-Guerin (BCG) vaccination. The TST was positive in 55.3% of the patients. Acid-fast bacillus smear was positive in 133, and polymerase chain reaction for Mycobacterium tuberculosis was positive in 45 patients. In 75 patients (13.9%), cultures yielded M. tuberculosis. One hundred fifty-one patients (28%) did not present for follow-up, and families of 5 patients (0.9%) discontinued the treatment. Pulmonary TB (n=285) and meningeal TB (n=85) were the most frequent diseases. In 29% of the patients, there was poor adherence to treatment or patients were lost to follow-up. We have demonstrated that household contact screening procedures play a major and important role, especially considering the high ratio of cases with contact index cases. We also recommend that the positive TST values should be reviewed according to the local cut-off data and should be specified in as many countries as possible. In view of the considerably high percentages of patients lost to follow-up and treatment discontinuation observed in our study, we suggest that application of directly observed treatment, short-course (DOTS) is preferable.