Browsing by Author "Çelebi, HBG"

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    Molecular analyses of ADAMTS-1,-4,-5, and IL-17 a cytokine relationship in patients with ulcerative colitis
    Buran, T; Batir, MB; Çam, FS; Kasap, E; Çöllü, F; Çelebi, HBG; Sahin, M
    BackgroundUlcerative colitis (UC) is a chronic inflammatory bowel disease that develops due to the impaired immune response in genetically susceptible individuals, and its etiopathogenesis is not fully elucidated. IL-17 A is a cytokine that is produced by a type of immune cell called Th17 cells and is involved in the immune response and inflammation. On the other hand, ADAMTS-1, -4, and - 5 are enzymes that are involved in the breakdown of extracellular matrix proteins, including proteoglycans, which are important components of the intestinal wall. This study aimed to evaluate the relationship between interleukin 17 (IL-17 A) cytokine, which plays a role in the pathogenesis of ulcerative colitis, and the inflammation-controlled a disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS)-1, -4, and - 5 protein members.MethodsBowel tissue samples and blood serum from 51 patients with UC and 51 healthy controls were included in this study. mRNA expression levels of the ADAMTS-1, -4, -5, and IL-17 A were analyzed by RT-qPCR, and immunohistochemical analyses were performed to evaluate ADAMTS-1, -4, -5, and IL-17 A proteins in tissue samples. In addition, ELISA analysis determined serum levels of the ADAMTS-1, -4, -5, and IL-17 A.ResultsRT-qPCR results reveal that the expression of ADAMTS-1, -4, -5, and IL-17 A genes in the UC tissue samples were significantly high according to the control tissue samples. Also, ADAMTS-1, -4, -5, and IL-17 A proteins revealed enhanced expression pattern UC groups according to the control. Also, ADAMTS-1, -4, -5, and IL-17 A protein showed cytoplasmic localization patterns in both control and UC groups. The serum levels of ADAMTS-1,-5, and IL-17 A were significantly higher in UC samples than in the control group.ConclusionsWe observed a positive correlation between the ADAMTS-1, -5 and IL17A cytokine expression in UC samples. These results provide a new understanding of controlling crucial ADAMTS family protein members by IL-17 A cytokines with UC.
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    Neutropenic Fever in a Two-and-a-Half Month Old Girl: Severe Congenital Neutropenia
    Gülen, H; Öçalan, M; Yildirim, AT; Çam, FS; Çelebi, HBG
    Severe congenital neutropenia is a hereditary disease characterized by a low number of neutrophils occurring from the first months of life leading to severe infections. It is rare but threatens life because of severe infections. For this reason, early diagnosis and treatment of this disease is important. Here, we present a case of a two and a half month old girl who was admitted to our clinic with fever and absolute neutropenia was determined in her clinical course.
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    A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy
    Ayça, S; Çelebi, HBG; Çam, S; Polat, M
    We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter hyperintensity in both siblings. In the older sister, muscle biopsy was performed; immunohistochemical studies showed a dystrophic pattern and merosin deficiency. With the diagnosis of merosin-deficient congenital muscular dystrophy (MDC1A), LAMA2 gene mutation analysis revealed an NM_000426.3:c.163_163delA; (p.N55Mfs*16) homozygous frameshift mutation in the siblings. This mutation leads to a premature stop codon and has not been reported previously in the literature.