Browsing by Author "Uluçay S."

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    Triple A syndrome with clinical and genetic findings: A case report; [Klinik ve genetik bulgulari ile triple A sendromu: Bir vaka takdimi]
    (Cocuk Sagligi ve Hastaliklan Dergisi, 2014) Appak Y.Ç.; Çam F.S.; Şahin G.E.; Uluçay S.; Huebner A.; Kasirga E.
    Triple A syndrome (Allgrove syndrome) is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenal insufficiency, and progressive neurological syndrome. This syndrome is caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene in the chromosome 12q13 region. We present a nine-year-old boy who had vomiting and progressive dysphagia since six years of age. Achalasia was determined with barium esophagography and esophagus manometric investigation. He had positive Schirmer test (<5 mm) and bilateral optic disc atrophy. The patient's serum cortisol levels were normal and cortisol response was low with ACTH stimulation test. Genetic analysis revealed a homozygous mutation (c.1066-1067delCT) in exon 11 of the AAAS gene, and her younger brother and sister were heterozygous carriers of this mutation. For treatment of achalasia, calcium channel blocker therapy was started, and botulinum toxin was applied to the distal esophagus. The patient's vomiting decreased but continued; his symptoms resolved after the implementation balloon dilation of the esophagus. © 2014, Cocuk Sagligi ve Hastaliklan Dergisi. All rights reserved.
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    A novel association between TGFβ1 and ADAMTS4 in coronary artery disease: A new potential mechanism in the progression of atherosclerosis and diabetes
    (AVES, 2015) Uluçay S.; Çam F.S.; Batır M.B.; Sütçü R.; Bayturan Ö.; Demircan K.
    Objective: Coronary artery disease is characterized by atherosclerosis in the vessel wall. Recently, it has been thought that increasing LDL-binding capacity of subendothelial proteoglycan fragments that are formed by protease activity can be responsible for the initiation of atherosclerosis. ADAMTS4 is a member of the versican-degrading proteinases. In vitro studies demonstrated that TGFb inhibits the expression of ADAMTS4 in macrophages. In this study, we aimed to investigate the role and association between TGFβ1 and ADAMTS4 in coronary artery disease. Methods: A total of 84 cases with atheroma plaque and 72 controls without plaque were analyzed. The severity of disease was determined by Gensini score. TGFβ1 gene polymorphisms were genotyped by the PCR-RFLP method. TGFβ1 and ADAMTS4 serum levels were measured by ELISA method. Statistical analyses of genotypes and their relationship with serum levels were performed by chi-square, student t test and ANOVA. Results: ADAMTS4 levels were higher in cases compared with controls (p<0.05). In the patient group, ADAMTS4 levels were higher than in controls and correlated with TGFβ1 serum levels (r=0.29; p<0.05) and severity of disease (r=0.20; p<0.05). The TGFβ1 gene CCA haplotype was associated with 3.3-fold increase in coronary artery disease (OR=3.26 95% CI 1.22-8.68; p<0.05). Unexpectedly, ADAMTS4 serum levels were also higher in diabetic cases (p=0.05). Conclusion: This study has demonstrated that ADAMTS4 may be responsible for the pathogenesis of atherosclerosis. This is the first report about the association between ADAMTS4 and TGFβ1 serum levels in the progression of atherosclerosis in CAD. Furthermore, it is seen that TGFβ1 haplotype can cause a genetic susceptibility to CAD in the Turkish population. To our knowledge, this is also the first report suggesting higher serum ADAMTS4 levels in diabetic patients. © 2015 by Turkish Society of Cardiology.
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    A novel association between TGFb1 and ADAMTS4 in coronary artery disease: A new potential mechanism in the progression of atherosclerosis and diabetes
    (2015) Uluçay S.; Çam F.S.; Batır M.B.; Sütçü R.; Bayturan Ö; Demircan K.
    OBJECTIVE: Coronary artery disease is characterized by atherosclerosis in the vessel wall. Recently, it has been thought that increasing LDL-binding capacity of subendothelial proteoglycan fragments that are formed by protease activity can be responsible for the initiation of atherosclerosis. ADAMTS4 is a member of the versican-degrading proteinases. In vitro studies demonstrated that TGFb inhibits the expression of ADAMTS4 in macrophages. In this study, we aimed to investigate the role and association between TGFb1 and ADAMTS4 in coronary artery disease.; METHODS: A total of 84 cases with atheroma plaque and 72 controls without plaque were analyzed. The severity of disease was determined by Gensini score. TGFb1 gene polymorphisms were genotyped by the PCR-RFLP method. TGFb1 and ADAMTS4 serum levels were measured by ELISA method. Statistical analyses of genotypes and their relationship with serum levels were performed by chi-square, student t test and ANOVA.; RESULTS: ADAMTS4 levels were higher in cases compared with controls (p<0.05). In the patient group, ADAMTS4 levels were higher than in controls and correlated with TGFb1 serum levels (r=0.29; p<0.05) and severity of disease (r=0.20; p<0.05). The TGFb1 gene CCA haplotype was associated with 3.3-fold increase in coronary artery disease (OR=3.26 95% CI 1.22-8.68; p<0.05). Unexpectedly, ADAMTS4 serum levels were also higher in diabetic cases (p=0.05).; CONCLUSION: This study has demonstrated that ADAMTS4 may be responsible for the pathogenesis of atherosclerosis. This is the first report about the association between ADAMTS4 and TGFb1 serum levels in the progression of atherosclerosis in CAD. Furthermore, it is seen that TGFb1 haplotype can cause a genetic susceptibility to CAD in the Turkish population. To our knowledge, this is also the first report suggesting higher serum ADAMTS4 levels in diabetic patients.