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  • Küçük Resim
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    Common polymorphisms of growth hormone: Growth hormone receptor axis in Turkish children with short stature
    (AVES, 2022) Yılmaz Güleç, Elif; Ercan, Oya; Adal, Servet Erdal; Buyru, Ayşe Nur; Yıldız, Metin; Deviren, Ayhan
    Objective: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy. Materials and Methods: Children with idiopathic isolated growth hormone deficiency (n = 39) and with idiopathic short stature (n = 10) and 50 control subjects were evaluated for anthropo-metric parameters, annual growth velocity, and annual height gain. Growth hormone receptor gene polymorphisms were analyzed via multiplex polymerase chain reaction; growth hormone 1 gene polymorphism was analyzed via polymerase chain reaction and single-strand confor-mation polymorphism techniques. Results: The frequency of genotypes carrying the “A” allele was not significantly higher in the idiopathic isolated growth hormone deficiency group than in the idiopathic short stature and control groups (P = .03 for each). The exon 3 deleted variant genotype was significantly lower in the idiopathic short stature group compared to the control group (P = .01). There was no effect of exon 3 deleted variant, on response to the first-year growth hormone therapy. Conclusion: In Turkish population, no correlation was found between the “A” allele of GH1IVS4+90A>T polymorphism and idiopathic isolated growth hormone deficiency and short stature, and a significant negative correlation was found between exon 3 deleted variant and idiopathic short stature and short stature. Exon 3 deleted variant has no effect on response to growth hormone treatment.
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    Squamous cell carcinoma development in Fanconi anemia patients who underwent hematopoietic stem cell transplantation
    (Wiley, 2020) Anak, Sema; Yalman, Nevin; Bilgen, Hülya; Sepet, Elif; Deviren, Ayhan; Gürtekin, Başak; Tunca, Fatih; Başaran, Bora
    We examined SCC development of 24 FA patients, who received HSCT from HLA-matched relatives. In our BMT center, we applied low-dose CY + LFI + ATG (n:13) as conditioning regimen for FA patients between 1992 and 1999, and CY + BU + ATG (n:11) between 1999 and 2002. The aim of this study was to investigate SCC development after HSCT and examine features of the follow-up patients. The 10-year overall survival (OS) of the group with LFI + regimen was 43%, whereas the group without LFI regimen was 60%. There was a statistically significant relationship between infections (viral/bacterial) and overall survival (Fisher's Exact test P < .001). Five out of 13 long-term (>1 year) surviving patients developed SCC in the HNSCC (n:4) and esophagus (n:2) region (a patient with oral SCC developed a second primary esophageal SCC). The SCC rate in our FA patients was 38%, four of the SCC patients were transplanted with irradiation used conditioning regimens, three of them had acuteGvHD (Grade II-III), only one developed chronic GvHD. The interval between HSCT and SCC diagnosis was median 13 (range 6-18) years, the age for the development of cancer was median 21 (range 15-32) years. Survival after SCC was low, median 6 months (range 6-12), due to delayed SCC diagnosis, tumor progression under therapy and treatment-related toxicities of the usually reduced RT and/or CT.