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    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, PS
    Background: 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.
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    Identification of the difference in extracellular matrix and adhesion molecules of cultured human gingival fibroblasts versus juvenile hyaline fibromatosis gingival fibroblasts using cDNA microarray analysis
    (AMER ACAD PERIODONTOLOGY, 2005) Hakki, SS; Balci, B; Hakki, EE; Yilmaz, E; Nohutcu, RM
    Background: A difference from the normal range in collagen profile and perivascular hyaline deposition in the dermis and gingiva has been demonstrated histopathologically in juvenile hyaline fibromatosis (JHF), which is an autosomal recessive disease. The aim of this study was to understand the mechanism of gingival overgrowth in JHF, and to observe differences in the expression of genes regulating extracellular matrix organization. Methods: Human gingival fibroblasts (GF) were obtained from individuals who have clinically healthy gingival tissue. JHF-GF were obtained from a patient who underwent a gingivectomy. Cultured fibroblast cells were examined visually using a phase contrast microscope. Total RNA from both cell types was isolated, and after biotin-deoxyuridine triphosphate (dUTP) labeling of cDNA, hybridization was performed with a pathway-specific gene expression profiling array membrane. Extracellular matrix (ECM) and adhesion molecule (AM) mRNA expressions in GF and JHF-GF were analyzed, and microarray data on genes modulating ECM remodeling were confirmed with reverse transcription-polymerase chain reaction (RTPCR). Results: Cell morphology differences were observed between fibroblast types. Although type I collagen gene expression levels were almost the same, decreased type IV Collagen expression was noted in JHF-GF versus GF. Decreased matrix metalloproteinase (MMP) and increased tissue inhibitor of matrix metalloproteinase (TIMP) transcripts were rioted in JHF-GF versus GF. Increased fibronectin and decreased laminin mRNA expression were observed in JHF-GF when compared to GF. The present findings suggest that GF and JHF-GF differ not only morphologically but also in the expression level of ECM and AM genes involving connective tissue turnover and remodeling. Conclusions: Results from these analyses may be helpful to clarify the nature of overgrowth mechanisms, especially regarding enzymes and their inhibitors. This information is important in understanding the remodeling of ECM. The gingival overgrowth that is observed in JHF patients may be explained by a decreased level of MMPs and increased blockage of MMPs with TIMPs.
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    Periodontal status in two siblings with severe congenital neutropenia: Diagnosis and mutational analysis of the cases
    (AMER ACAD PERIODONTOLOGY, 2005) Hakki, SS; Aprikyan, AAG; Yildirim, S; Aydinbelge, M; Gokalp, A; Ucar, C; Guran, S
    Background: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, was originally reported as an autosomal recessive disease of neutrophil production. The disease is characterized by a maturation arrest of neutrophil precursors at the promyelocytic stage of differentiation and by extremely low levels of mature neutrophils in peripheral blood. Methods: A 6-year-old male presented with a complaint of gingival swelling and bleeding, and swelling at the left side of his face. Upon clinical examination, severe inflammation of all gingival tissues was apparent, and a periapical abscess with mobility was noted on the left mandibular second molar. Medical and dental histories revealed numerous recurrent bacterial infections associated with oral and non-oral tissues. His medical history with recurrent infections led us to evaluate his 3-year-old sister to determine the status of her oral health. Inflammation of her oral tissues and recurrent bacterial infections were apparent. Their consanguineous parents were in good health. To assist in identifying possible systemic diseases underlying the inflammatory situation in the siblings, consultations were requested from the Pediatric Hematology Department at Selcuk University and Pediatric Oncology Department at Gulhane Military Medical Academy. Results: Based on absolute neutrophil count (<= 200/mm(3)) and bone marrow aspiration findings consistent with early maturation arrest in myelopoiesis, the cases were diagnosed as SCN. No chromosomal abnormality was detected upon cytogenetic examination. Sequencing analysis also revealed no mutation in the neutrophil elastase or growth factor independent-1 (GFI-1) genes in these patients. Severe periodontal disease, attachment loss, and mobility for over 50% of the deciduous teeth were noted. Within 6 months, the male sibling lost all of his deciduous teeth due to periapical and periodontal infections. His sister presented with tooth mobility for all mandibular incisors. Monthly visits, including scaling, polishing, and 0.2% chlorhexidine digluconate irrigation were performed to support their oral hygiene and to avoid recurrent oral infections. We have been able to stabilize these patients' periodontal conditions during a 2-year follow-up period. Conclusion: This case report emphasizes the role of periodontists and pediatric dentists in the diagnosis of diseases linked with neutrophil and other systemic disorders and highlights the need to optimize the health of oral tissues with regular appointments.
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    Periodontal treatment of two siblings with juvenile hyaline fibromatosis
    (BLACKWELL PUBLISHING, 2005) Hakki, SS; Ataoglu, T; Avunduk, MC; Erdemli, E; Gunhan, O; Rahman, N
    Background and Aim: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive disease that presents with multiple subcutaneous nodular tumours, gingival fibromatosis, flexion contractures of the joint and hyaline material accumulation in extracellular area. Recently, the causative gene for JHF, capillary morphogenesis protein 2 (CMG2) was identified. In this case report, periodontal status, treatment and follow-up together with histopathologic evaluation of gingival tissue specimens and mutation screening of two JHF cases are presented. Case Reports: A 10-year-old female (case 1) and her 3-year-old brother (case 2) were first examined in our department with a complaint of gingival hyperplasia in 1991. Symptoms of the disease were detected in two of four siblings in the family. Several gingivectomy operations were carried out over 11 years with hygiene motivation and initial phase therapy. After the last gingivectomy operation in 2002, the patients were reviewed frequently. Results and Conclusions: Although there was linear marginal gingival inflammation, no remarkable enlargement was noted at last appointment. Histopathological findings showed increased amounts of subepithelial nodular connective tissue, thinned epithelial mucosa, separated inter-cellular bridges and decreased numbers of connective tissue cells in gingival tissue samples. Electron microscopic examinations supported the histopathological findings. Mutation screening of CMG2 demonstrated that the siblings were homozygous for a pathogenic missense mutation, V386F. Our clinical findings demonstrate that gingivectomy is useful and frequent periodontal visits are important for maintaining oral hygiene and decreasing growth rate of gingiva in JHF.