Browsing by Author "Serakinci, Nedime"

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A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections
(FRONTIERS MEDIA SA, 2017-01-01) Akcan, Nese; Serakinci, Nedime; Turkgenc, Burcu; Bundak, Ruveyde; Bahceciler, Nerin; Temel, Sehime G.
Introduction: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. Case presentation: A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c. 665delG variant in exon 4 of the TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-to-T transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations. Conclusion: Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis.
Prognostic role of sensitive-to-apoptosis gene expression in rectal cancer
(BAISHIDENG PUBL GRP CO LTD, 2011-01-01) Ozden, Sevgi A.; Ozyurt, Hazan; Ozgen, Zerrin; Kilinc, Olca; Oncel, Mustafa; Gul, Aylin E.; Karadayi, Nimet; Serakinci, Nedime; Kan, Beki; Orun, Oya
AIM: To investigate the association between prognosis of rectal cancer treated with chemoradiotherapy (CRT) and expression of sensitive-to-apoptosis (SAG), B-cell lymphoma-extra large (Bcl-XL) and Bcl-2 homologous antagonist/killer (Bak). METHODS: Real-time quantitative polymerase chain reaction was used to determine the expression of proteins of interest, namely SAG, Bcl-XL, Bak and beta-actin, in rectal carcinoma patients who had a follow-up period of 3 years after CRT. Biopsy specimens were excised from the rectal tumor preceding CRT. RESULTS: SAG, Bcl-XL and Bak proteins showed significant correlations with each other. In multivariate analysis, patients with high vs low SAG expression showed a statistically significant difference in 2-year survival rates: 56\% vs 73\%, respectively (P = 0.056). On the other hand, there were no significant correlations between the expression levels of all three genes and metastatic rates or tumor responses to CRT. Mean overall survival in the patients with elevated SAG expression was 27.1 mo +/- 3.9 mo {[}95\% confidence interval (CI): 19.3-34.9], and in patients with reduced expression, it was 32.1 mo +/- 2.5 mo (95\% CI: 27.3-36.9). The corresponding values for Bcl-XL were 28.0 mo +/- 4.1 mo (95\% CI: 19.9-36.1) and 31.7 mo +/- 2.9 mo (95\% CI: 26.0-37.5), and those for Bak were 29.8 mo +/- 3.7 mo (95\% CI: 22.5-37.2) and 30.6 mo +/- 2.4 mo (95\% CI: 25.5-35.0), respectively. CONCLUSION: Two-year survival rates significantly correlated with low SAG expression, and SAG may be a candidate gene for good prognosis, independent of therapeutic response of different individuals. (C) 2011 Baishideng. All rights reserved.