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Öğe The Comparison of Alternaria and Cladosporium Spore Counts in Two City, Ankara and Konya Atmosphere at 2009(WILEY-BLACKWELL, 2010) Kızılpınar, I.; Doğan, C.; Artaç, H.; Civelek, E.; Şahiner, U.; Yavuz, S.; Reisli, I.[Abstract not Available]Öğe Di George Syndrome: Clinical Heterogeneity Can Hamper the Diagnosis(Wiley-Blackwell, 2010) Göktürk, B.; Artaç, H.; Keleş, S.; Yıldırım, S.; Kara, R.; Kıraç, M.; Reisli, I.[Abstract not Available]Öğe DOCK8 Deletions and Mutations are Associated with the Autosomal Recessive Hyper-IgE Phenotype(MOSBY-ELSEVIER, 2010) McGhee, S. A.; Engelhardt, K.; Winkler, S.; Sassi, A.; Woellner, C.; Lopez-Herrera, G.; Chen, A.; Kim, H.; Garcia Lloret, M.; Schulze,I.; Ehl, S.; Thiel, J.; Pfeifer, D.; Veelken, H.; Niehues, T.; Siepermann, K.; Weinspach, S.; Reisli, I.; Keleş, S.; Genel, F.; Kütükçüker, N.; Camcıoğlu, Y.; Somer, A.; Karakoç-Aydıner, E.; Barlan, I.RATIONALE: Many patients who have a hyper-IgE like phenotype do not have mutations in STAT3 and show an autosomal recessive pattern of inheritance. The genetic cause of the immune deficiency is unexplained. METHODS: We analyzed 27 subjects with an autosomal recessive hyperIgE syndrome phenotype by mapping arrays and sequencing. Subjects were considered to have AR-HIES if they had no skeletal findings and primarily viral infections with a HIES score > 22. We performed copy number analysis and homozygosity mapping to implicate candidate loci. RESULTS: Five subjects had homozygous or compound heterozygous subtelomeric deletions involving 9p24.3, with the minimally deleted region involving only one gene, DOCK8. Sequencing of DOCK8 in the remaining patients showed nonsense and splice site mutations as well as single exon deletions within DOCK8 in 16 patients from 9 families. Patients with DOCK8 deficiency have pneumonia, skin abscesses, severe viral infections and candidiasis. Serum IgE was markedly elevated with profound eosinophilia. T cells from patients with DOCK8 deficiency had reduced proliferation from anti-CD3 stimulation. CONCLUSIONS: Deletions and mutations in DOCK8 are associated with the autosomal recessive hyper-IgE syndrome, as was also found by Zhang, et al (NEJM 2009;361:2046-55). Though its function is unknown, DOCK8 interacts with the cytoskeleton and may alter dendritic cell function, T-cell function, or both. Breakpoints for deletions appear to be near Alu Jb sequences, suggesting the possibility of retrotransposon activity as a mechanism for deletion. Genomic copy number variants are an important, newly appreciated mechanism underlying primary immune deficiency and can provide clues for disease gene identification.Öğe DOWN SYNDROME ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY: A CASE REPORT(MEDECINE ET HYGIENE, 2009) Yildirim, M. S.; Artac, H.; Reisli, I.Down syndrome associated with severe combined immunodeficiency: a case report: An 8-month-old-boy was admitted to the hospital because of recurrent bronchopneumonia and gastrointestinal tract infections. On physical examination, lie had hypotonia, mental retardation, microcephaly with flat facies, low nasal bridge, small nose, small ears. Laboratory evaluation revealed Down syndrome, lymphopenia, hypogammaglobulinemia, reduced proportions of the peripheral blood lymphocytes with an inverted CD4/CD8 ratio and markedly reduced mitogen response of the lymphocytes. We report here unique case of Down syndrome associated with severe combined immunodeficiency.Öğe Influence of education on primary care physicians' knowledge on childhood allergy as a systemic disease and the atopic march(ELSEVIER DOYMA SL, 2011) Yilmaz, O.; Reisli, I.; Tahan, F.; Orhan, F.; Boz, A. B.; Yuksel, H.Background: There are many educational events for physicians in different countries covering one or some of the allergic diseases. Most of these educational events have been reported to improve care by the physicians. The aim of this study was to determine the baseline knowledge of general practitioners (GP) regarding the systemic nature of childhood allergy and atopic march, and to assess the influence of an educational event on this baseline knowledge. Methods: Two hundred and two GPs from five different cities in Turkey who attended education seminars were enrolled. All GPs were received the questionnaire both before and after the seminar. The questionnaire had statements about the systemic nature of childhood allergies and the atopic march, and GPs were asked to mark their degree of agreement as (completely true, partially true, wrong). Results: Mean age of GPs was 38.6 +/- 6.0 years. Mean duration after graduation from medical faculty was 13.9 +/- 6.5 years. There was significant improvement in answers after education. The statement "Frequency of allergic rhinitis and asthma is not as high as expected in children with atopic dermatitis" was regarded "wrong" by 60.9% but increased to 94.3% after the education (p < 0.001). Systemic nature of allergy was approved by 72.8%, which increased to 99% after the education (p < 0.001). Adrenalin as first line treatment in anaphylaxis treatment was appreciated by a higher number of GPs with the education (p<0.001). Conclusion: Many GPs lack updated information about the systemic nature of paediatric allergic diseases and a single educational event may improve their knowledge significantly. (C) 2010 SEICAR Published by Elsevier Espana, S.L. All rights reserved.Öğe Narrow-band ultraviolet B phototherapy for the treatment of vitiligo: evidence against an autoimmune pathogenesis(WILEY-BLACKWELL, 2008) Engin, B.; Baysal, I.; Reisli, I.; Ozdemir, M.; Toy, H.[Abstract not Available]Öğe Pathological Case of the Month - Goodpasture Disease(AMER MEDICAL ASSOC, 2001) Reisli, I.; Özel, A.; Çalışkan, U.; Çakır, M.; Tulunay, O.[Abstract not Available]Öğe A Patient with Combined Immunodeficiency and Hemolytic Anemia(SPRINGER/PLENUM PUBLISHERS, 2014) Sayar, E. Hazar; Guner, S. N.; Emiroglu, M.; De Saint-Basile, G.; Reisli, I.[Abstract not Available]Öğe Serum Rantes Levels in Asthmatic Children(Blackwell Munksgaard, 2002) Reisli, I.; Doğu, F.; İkincioğulları, A.; Babacan, E.[Abstract not Available]Öğe Severe Combined Immune Deficiency Due To Heterozygous Compound Mutation in Rag1 Gene(SPRINGER/PLENUM PUBLISHERS, 2014) Artac, H.; Ozdemir, H.; Ceylan, A.; Uygun, V.; Yesilipek, A.; Guner, S.; Reisli, I.[Abstract not Available]Öğe Swine Influenza a (H1N1) Infections in Patients with Primary Immunodeficiency(WILEY-BLACKWELL, 2010) Kıraç, M.; Göktürk, B.; Keleş, S.; Artaç, H.; Reisli, I.[Abstract not Available]Öğe Thrombocyte Volume and Count in Digeorge Syndrome(SPRINGER/PLENUM PUBLISHERS, 2012) Göktürk, B.; Reisli, I.; Kıraç, M.; Keleş, S.; Artaç, H.; Yıldırım, S.[Abstract not Available]Öğe UNUSUAL NON-HODGKIN LYMPHOMA SUBTYPES IN CHILDREN WITH PRIMARY IMMUNODEFICIENCY(WILEY-BLACKWELL, 2013) Uner, A.; Caliskan, U.; Ugras, N. S.; Reisli, I.; Artac, H.; Kose, D.; Koksal, Y.[Abstract not Available]Öğe Vernal keratoconjunctivitis-A rare but serious comorbidity of allergic rhinitis and eustachian tube dysfunction(ELSEVIER IRELAND LTD, 2010) Bozkurt, M. K.; Bozkurt, B.; Artac, H.; Arslan, N.; Reisli, I.Objective: To determine the prevalence of symptoms and signs of allergic rhinitis (AR) in children with vernal keratoconjunctivitis (VKC) and evaluate eustachian tube (ET) function using tympanometry. Methods: The patients underwent an otolaryngological examination and symptoms of rhinorrhoea, nasal obstruction, nasal itching and sneezing were evaluated for the diagnosis of AR. Tympanometry was performed by a middle ear analyzer (Impedance audiometer AZ 26, Interacoustics A/S, Assens, Denmark). Blood samples were collected for determination of peripheral blood eosinophil count (PBEC) and serum total immunoglobulin E (IgE). Allergen sensitivity was also determined by skin prick test. Results: The study included 26 males (96.3%) and 1 female (3.7%) with a mean age of 12.1 +/- 4.4 years. Eight out of 27 subjects (29.6%) had blood eosinophilia and 11 out of 27 subjects had elevated serum IgE (40.7%). A positive skin prick test was identified for at least one allergen in 40% of patients (10/25 subjects). Symptoms and signs of AR were found in 10 subjects (37%). Median serum IgE level in subjects with AR (262.5 kU/L)was higher than without AR(40.2 kU/L)(p = 0.08),whereas there were no differences in PBEC or eosinophilia percentage (p > 0.05). Mean middle ear pressures in the right and left ears were -66.4 daPa (range between -268 and 4 daPa) and -57.3 daPa (range between -308 and 0 daPa), respectively. The tympanometry results were abnormal in 5 subjects (18.5%) (3 type C and 2 type B tympanogram). Three out of 10 VKC patients with AR (30%) and 2 out of 17 VKC patients without AR (11.8%) had abnormal tympanograms (p = 0.33). Conclusion: AR is commonly associated with VKC and subjects with AR are almost three times more likely to have ET dysfunction than those without. Therefore, opthalmologists should refer VKC patients to otolaryngologists to delineate associated AR and ET dysfunction. Conversely, patients with OME and/or AR who have persistent allergic eye symptoms may well benefit from opthalmologic evaluation for seasonal allergic conjunctivitis and VKC. (C) 2009 Elsevier Ireland Ltd. All rights reserved.Öğe XHIGM with grade III liver fibrosis, successfully transplanted by using treosulphan and cyclophosphamide as a conditioning regimen(NATURE PUBLISHING GROUP, 2010) Dogu, F.; Cipe, F.; Reisli, I.; Ikinciogullari, A.[Abstract not Available]
