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Öğe Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefevre Syndrome(WILEY, 2005) Cagli, NA; Hakki, SS; Dursun, R; Toy, H; Gokalp, A; Ryu, OH; Hart, PSBackground: Papillon-Lefevre Syndrome (PLS) is an autosomal recessive disease characterized by palmoplantar hyperkeratosis and severe periodontitis affecting both primary and secondary dentitions. Cathepsin C (CTSC) gene mutations are etiologic for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. Methods: A 4-year-old female (case 1) and her 10-year-old sister (case 2) presented with palmoplantar skin lesions, tooth mobility, and advanced periodontitis. Based on clinical findings, the cases were diagnosed with PLS. Mutational screening of the CTSC gene was conducted for the cases, and their clinically unaffected parents and brother. Biochemical analysis was performed for CTSC, cathepsin G (CTSG), and elastase activity in neutrophils for all members of the nuclear family. The initial treatment included oral hygiene instruction, scaling and root planing, and systemic amoxicillin-metronidazole therapy. Results: CTSC mutational screening identified a c.415G > A transition mutation. In the homozygous state, this mutation was associated with an almost complete loss of activity of CTSC, CTSG, and elastase. Although monthly visits, including scaling, polishing, and 0.2% chlorhexidine digluconate irrigation were performed to stabilize the periodontal condition, case I lost all her primary teeth. In case 2, some of the permanent teeth could be maintained. Conclusions: This report describes two siblings with a cathepsin C gene mutation that is associated with the inactivity of cathepsin C and several neutrophil serine proteases. The failure of patients to respond to periodontal treatment is discussed in the context of these biological findings.Öğe Efficiency of low dose N-acetylcystein therapy on experimental rabbit sepsis model(MEDIMOND S R L, 2005) Duran, A; Kafali, ME; Sahin, M; Toy, H; Cander, B; Ak, A[Abstract not Available]Öğe Generalized idiopathic acanthosis nigricans treated with acitretin(TAYLOR & FRANCIS LTD, 2006) Ozdemir, M; Toy, H; Mevlitoglu, I; Demirkesen, CGeneralized idiopathic acanthosis nigricans is a rare form of acanthosis nigricans. This form may be familial or nonfamilial and begins at birth or in early childhood. We report an 18-year-old boy with generalized idiopathic acanthosis nigricans who has no family history of acanthosis nigricans. The patient was treated with oral acitretin. Acitretin has been reported rarely as a therapeutic retinoid agent in the disease to date.Öğe Intraoperative determination of intestinal viability: A comparison with transserosal pulse oximetry and histopathological examination(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2005) Erikoglu, M; Kaynak, A; Beyath, EA; Toy, HBackground. In this study, we aimed to measure the O-2 saturation of ischemic intestinal segments and the relationship between these measures and concomitant pathological gradings. Materials and methods. We used 14 New Zealand White rabbits, anesthetized with a combination of 80 mg/kg (i.m.) Ketamine hydrochloride and 10 mg/kg Acepromazine (i.m.). The superior mesenteric artery (SMA) was explored, and O-2 saturation was measured by pulse oximetry 5 cm proximal to the ileocecal valve at the 0th hour. At the same time a 0.5-cm. full-thickness wedge biopsy was taken from the same region. Thereafter, the SMA was ligated and the abdomen was closed. All rabbits were undertaken relaparotomy at the 4th hour; O-2 saturation was measured by pulse oximetry at 5 cm away from the region of the first biopsy and a 0.5-cm. full-thickness wedge biopsy was taken. The abdomen was then closed. The same procedure was performed at the 8th and the 12th hour. Mucosal hemorrhage, transmural congestion, mucosal necrosis, and transmural necrosis were examined in the specimens. Results. Pathologically, transmural necrosis was concomitant with 64% O-2 saturation (sensitivity: 100%; specificity: 86%). Mucosal necrosis was concomitant with 76% O-2 saturation values (sensitivity: 100%; specificity: 75%). Transmural congestion was concomitant with 81% O-2 saturation values (sensitivity: 89%; specificity: 58%). Mucosal hemorrhage was concomitant with 91% O-2 saturation (sensitivity: 100%; specificity: 31%). Conclusion. O-2 saturation measures > 76% may indicate reversible changes as mucosal necrosis, transmural congestion, or mucosal hemorrhage, and O-2 saturation measures < 64% may indicate permanent transmural necrosis. As a result, intraoperative evaluation of intestinal viability by pulse oximetry may give us an idea about the degree of pathological changes and subsequently might reduce the number of second-look operations. (c) 2005 Elsevier Inc. All rights reserved.Öğe Secondary breast, pancreatic, and renal involvement with non-Hodgkin's lymphoma: Imaging findings(CHURCHILL LIVINGSTONE, 2006) Kiresi, DA; Kivrak, AS; Ecirli, S; Toy, HThe radiologic features in a patient with breast, pancreatic, and renal non-Hodgkin's lymphoma are presented in this paper. Although diagnosis of lymphoma is based on histologic criteria, radiologic techniques may be helpful in the evaluation and follow-up of masses in patients with lymphoma. (c) 2005 Elsevier Ltd. All rights reserved.Öğe Submandibular gland mucocele: Report of two cases(MOSBY, INC, 2005) Ozturk, K; Yaman, H; Arbag, H; Koroglu, D; Toy, HSubmandibular gland mucocele should be remembered in the differential diagnosis of swelling at the submandibular triangle. In the cystic lesion of the submandibular area, the biochemical analysis of aspirated material for amylase should be performed. The cases with submandibular gland mucocele should be treated by removing the lesion with both the submandibular and the sublingual glands.Öğe Two scrotal calcinosis cases with different causal mechanisms(LIPPINCOTT WILLIAMS & WILKINS, 2005) Tosun, Z; Karacor, Z; Ozkan, A; Toy, H; Savaci, N[Abstract not Available]Öğe Zimmermann-Laband syndrome in an infant with an atypical histologic finding(SPRINGER, 2005) Atabek, ME; Pirgon, O; Sert, A; Toy, HZimmermann-Laband syndrome is an inherited disorder that is characterized by abnormalities of the head, face, hands, and feet. Most children with this disorder have generalized hypertrichosis, large gingivae, and hypoplasia of the fingernails and toenails. We report a male infant who exhibited typical features of Zimmermann-Laband syndrome with an unusual histopathologic finding. Excised tissue from the infant's gingivae showed papillary projections that were composed of hyperplastic stratified squamous epithelium with different amounts of keratinization.