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1/4. microbiology of destructive periodontal disease in adolescent patients with congenital neutropenia. A report of 3 cases.

    BACKGROUND, AIMS: Congenital neutropenia is one condition that may predispose for destructive periodontal disease at a young age. In this report, we describe the microbiology of 3 adolescent patients with congenital neutropenia two of whom suffered from severe periodontitis. METHOD: Microbiological testing of the parents was also performed in 1 case. dna fingerprinting was used to study transmission of putative periodontal pathogens in this case. From 1 patient with periodontitis, actinobacillus actinomycetemcomitans and porphyromonas gingivalis were isolated; a 2nd periodontitis patient was infected with P. gingivalis. A 3rd patient had gingivitis only and no A. actinomycetemcomitans or P. gingivalis were found. RESULTS: Using the amplified fragment length polymorphism dna fingerprinting technique, bacterial transmission between the father and a patient was shown for A. actinomycetemcomitans but not for P. gingivalis.
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ranking = 1
keywords = periodontal disease
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2/4. Characterization of patients presenting for treatment to a university refractory periodontal diseases unit: three case reports.

    BACKGROUND: Of the many forms of periodontal disease, refractory periodontal diseases are the least characterized. They are defined as the continued degeneration of the periodontium despite adequate management. This has led to the suggestion that there may be a systemic component that is a contributing factor to the development of this condition. The objectives of this report were to follow the progression of clinical changes associated with periodontal disease over a number of years in this unique population and review various hematologic and microbiologic factors that may be contributing to the disease progression. methods: Three subjects were profiled. They were referred to the Refractory Periodontal Disease Unit at the University of Toronto by periodontists or general practitioners in the Southern ontario region. Complete medical and dental histories were obtained along with baseline clinical measurements. Periodontal examinations were facilitated with the use of a computer-assisted periodontal probe. A microbiologic analysis using immunofluorescence techniques was able to detect prevotella intermedia, porphyromonas gingivalis, Tannerella forsythia, and actinobacillus actinomycetemcomitans and spirochetes. A hematologic analysis, including a complete blood count (CBC), immune profile, and glycosylated hemoglobin assay, was also performed. RESULTS: The clinical presentation revealed that patients receiving adequate maintenance therapy and with good to excellent oral hygiene demonstrated sites with continual loss of attachment. Few periodontal pathogens were detected. However, the most significant finding appeared to be the report elevated levels of CD8 cells within this group of patients compared to normal laboratory ranges. CONCLUSIONS: This report is an attempt at characterizing a unique population within the periodontal realm. The long-term monitoring of these patients allowed for an assessment of factors that may be involved in the continued decline of the periodontal health of these patients. Based on the immune profile, it is possible that a hyperresponsive state may be the primary feature of this population. Future assessments, including full-mouth interleukin (IL)-1 and matrix metalloproteinase (MMP)-8 levels, may assist in characterizing this population further, with the goal of producing markers that will assist clinicians in predicting treatment outcome.
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ranking = 1.4
keywords = periodontal disease
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3/4. Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

    BACKGROUND: Kindler syndrome (online Mendelian Inheritance in Man No. 173650) is an autosomal recessive genodermatosis characterized by acral trauma-induced blistering that improves with age and by progressive poikiloderma in later life. Other clinical features include photosensitivity, webbing of the fingers and toes, nail dystrophy, periodontal disease, and mucosal alterations. Aside from esophageal or anal stenosis, gastrointestinal tract involvement seems to be rare in Kindler syndrome. Recently, mutations in the KIND1 gene that encodes for the membrane-associated protein kindlin-1 have been identified. Kindlin-1 links the actin cytoskeleton to the extracellular matrix and is supposed to have cell-signaling functions owing to different functional domains. In particular, a domain with high homology to 4.1/ezrin/radixin/moesin (FERM) proteins is closely related to the sequences of talin that mediate integrin binding and therefore may play a role in integrin-dependent processes such as cell growth, differentiation, and apoptosis. observation: Complete loss of this multifunctional protein in our patient with Kindler syndrome resulted in severe gastrointestinal tract involvement with hemorrhagic colitis. Mucosa of the descending and sigmoid colon and the rectum showed erosions and ulcers with pseudomembranous alterations of an overall highly vulnerable mucosa. mutation analysis revealed a homozygous status for the novel mutation 20/21delTT in exon 2 of the KIND1 gene resulting in a preterminal stop codon creating a nonfunctional peptide 17 amino acids in length. CONCLUSION: Because of our experience with this and another patient, we propose that gastrointestinal tract involvement should be looked at more frequently in Kindler syndrome.
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keywords = periodontal disease
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4/4. Host defensive functions in a family manifesting early-onset periodontitis.

    family case studies help us identify host risk factors in periodontal disease. In this study we examine a family consisting of a mother (40 years old, with rapidly progressive periodontitis), her elder daughter (14 years old, with localized juvenile periodontitis), and younger daughter (13 years old, with simple gingivitis). We examined 1) the peripheral neutrophil functions (chemotactic migration, phagocytosis, superoxide production); 2) lymphocyte functions (proliferative activity and cytokine productivity of T cells, immunoglobulin [Ig] M productivity of B cells when stimulated with pokeweed mitogen); 3) phenotypic analyses of peripheral lymphocyte subpopulations; 4) serum IgG antibody titers against periodontopathic bacteria; and 5) serological type of HLA class II. All the subjects exhibited high T4/T8 ratios due to high percentage of CD4-positive cells, showed high IgG titers to actinobacillus actinomycetemcomitans, and had a HLA DQw1 in common. The mother showed a slight deficiency of neutrophil chemotactic migration to N-formyl methyonyl leucyl phenylalanin (fMLP), raised interleukin-2 productivity of T cell, and high levels of IgG titers to Porphyromonus gingivalis and fusobacterium nucleatum. Both daughters showed weak T cell proliferative response to anti-CD3 monoclonal antibody and low IgM productivity. Low lymphocyte responsiveness may be involved in the pathogenesis of periodontal disease of these daughters; therefore, the lymphocyte dysfunctions shown should be considered in relation to the progression of periodontal disease.
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ranking = 0.6
keywords = periodontal disease
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