Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis.

OBJECTIVES: To establish whether two families from Malopolska and Mazovia provinces in Poland are affected by hereditary gingival fibromatosis type 1, caused by a single-cytosine insertion in exon 21 of the Son-of-Sevenless-1 gene. MATERIAL AND METHODS: Six subjects with hereditary gingival fibromatosis and five healthy subjects were enrolled in the study. Gingival biopsies were collected during gingivectomy or tooth extraction and used for histopathological evaluation. Total RNA and genomic DNA were purified from cultured gingival fibroblasts followed by cDNA and genomic DNA sequencing and analysis. RESULTS: Hereditary gingival fibromatosis was confirmed by periodontal examination, X-ray, and laboratory tests. Histopathological evaluation showed hyperplastic epithelium, numerous collagen bundles, and abundant-to-moderate fibroblasts in subepithelial and connective tissue. Sequencing of exons 19-22 of the Son-of-Sevenless-1 gene did not reveal a single-cytosine insertion nor other mutations. CONCLUSIONS: Patients from two Polish families under study had not been affected by hereditary gingival fibromatosis type 1, caused by a single-cytosine insertion in exon 21 of the Son-of-Sevenless-1 gene. Further studies of the remaining regions of this gene as well as of other genes are needed to identify disease-related mutations in these patients. This will help to unravel the pathogenic mechanism of gingival overgrowth.

Erratum: Elastase and metalloproteinase 9 concentrations in saliva in patients with chronic periodontitis.

[This corrects the article DOI: 10.5114/ceji.2014.45948.].

Pharmacodynamic resistance to warfarin is associated with nucleotide substitutions in VKORC1.

BACKGROUND: Vitamin K epoxide reductase subunit 1 (VKORC1) is the molecular target of coumarin anticoagulants and mutations in VKORC1 have been identified previously in individuals who required high warfarin doses. OBJECTIVE: Detailed characterization of the relationship between variation in VKORC1 and the warfarin resistance phenotype. PATIENTS AND METHODS: Serum warfarin concentration and coagulation parameters were determined in 289 subjects who required warfarin doses >20 mg day(-1). The VKORC1 sequence was studied in selected study subjects. RESULTS: Twenty-eight out of 289 (10%) subjects had serum warfarin >2.3 mg L(-1) during stable therapeutic anticoagulation indicating pharmacodynamic warfarin resistance. Detailed analysis of 15 subjects from this group showed that eight out of 15 (53%) had nucleotide substitutions in VKORC1 predictive of p.V66M, p.L128R, p.V54L or p.D36Y. VKORC1 was normal in the remaining seven out of 15 (47%) subjects and in nine out of nine (100%) subjects with high warfarin dose requirement not caused by pharmacodynamic resistance. At referral, subjects with VKORC1 mutations received a median warfarin dose of 32 mg day(-1) (range 22-55) and had a median serum warfarin concentration of 4.6 mg L(-1) (range 2.6-9.0). VKORC1 substitutions were associated with a requirement for high warfarin doses but not with adverse clinical events. Family members with VKORC1 nucleotide substitutions and not receiving warfarin had undetectable PIVKA-II and K(1) epoxide (K(1)O). CONCLUSIONS: Nucleotide variations in VKORC1 are a common cause of pharmacodynamic warfarin resistance but are not associated with adverse outcome during anticoagulation. Mutations associated with warfarin resistance do not cause a discernible defect in VKORC1 reductase function.

Clinical state of the patients with periodontitis, IL-1 polymorphism and pathogens in periodontal pocket--is there a link? (An introductory report).

PURPOSE: According to last years' research, polymorphism of IL-1 has an influence on the progression of periodontal disease. Oral mouth microflora can also have an effect on the disease process. The aim of the work was to evaluate the amount of microbacterial pathogens in the periodontal pockets of patients with positive and negative genotype. MATERIAL AND METHODS: Study group comprised of 16 patients, aged 25-50 years. Only patients with severe generalized form of chronic periodontititis were included into the study. After clinical examination patients were subjected to the IL-1 genotype evaluation (Genotype PST, Hain Lifescience GmbH, Germany) and PCR examination of selected bacteria pathological for periodontium (Perio-Analyse, Pierre Fabre Medicament, France). RESULTS: 7 out of 16 individuals were diagnosed as genotype positive (alleles 2 for genes IL-1A and IL-1B). Genetically positive individuals had greater mean pocket depth, clinical attachment loss and percentage of pockets deeper than 4 mm. Although in both groups similar bacterial pathogens have been identified, greater amounts of bacteria have been counted in group with positive genotype. Total count of bacteria from so-called "red complex" (P. gingivalis, T. forsythensis, T. denticola), and "orange complex" (F. nucleatum, P. micros, P. intermedia, C. rectus) were respectively 3-fold and 2-fold higher in group with positive genotype, despite the fact that group was smaller (7 vs 9 persons with negative genotype). Number and species of bacteria seems to correlate with pocket depth, clinical attachment loss, and percentage of pockets deeper than 4 mm. CONCLUSION: Observed association may have an influence on increased severity of periodontal disease in patients with positive genotype.

Periodontitis as a risk factor of coronary heart diseases?

BACKGROUND: Unstable atherosclerotic plaque is a dangerous clinical state, possibly leading to acute coronary deficiency resulting in cardiac infarction. Inflammatory factor's role in creating pathological lesions in the endothelium of coronary vessels is frequently raised. This state may be caused by bacteria able to initiate clot formation in blood vessel and destabilizing atherosclerotic plaque already present. Source of these pathogens are chronic inflammatory processes occurring in organism, among them periodontal disease as one of more frequent. Aim of the work was to evaluate incidence of selected anaerobic bacteria in subgingival plaque and in atherosclerotic plaque in patients treated surgically because of coronary vessels' obliteration. METHODS: Study was performed on 20 individuals with chronic periodontitis. Subgingival plaque was collected from periodontal pockets deeper than 5 mm DNA test was used for marking eight pathogens responsible for periodontal tissues destruction. In the same patients, as well as in 10 edentulous individuals material from atherosclerotic plaque was collected during by-pass implantation procedure, and identical DNA testing occurred. RESULTS: In 13 of 20 patients pathogens most frequent in severe chronic periodontitis were found in coronary vessels. In 10 cases those bacteria were also present in atherosclerotic plaque. Pathogens linked with periodontal disease were also found in 7 of 10 edentulous individuals. Most frequently marked bacteria were: Porphyromonas gingivalis and Treponema denticola. CONCLUSIONS: It seems that advancement of periodontal disease does not have influence on bacteria permeability to coronary vessels. Important is the presence of active inflammatory process expressed by significantly higher bleeding index in patients with marked bacteria in atherosclerotic plaque.

Multidisciplinary treatment of patients after a surgery due to cancers in the facial area: a clinical reports.

Prosthetic rehabilitation of patients after surgical removal of carcinoma in the facial skeleton is one of the most difficult problems in therapy of the stomatognathic system, due to increasing incidence of head and neck carcinoma. Significant deformations of tissues, development of dysfunctions of the stomatognathic system with concurrent biological unbalance of the oral cavity enviroment are frequently a consequence of the treatment. Cicatricial scars, contraction of the oral crevice and limitation of mobility of the tongue are noted in numerous cases. Deformations of the facial area of the skull and of structures of the temporo-mandibular joint are also the reasons of occlusion and articulation disturbances. Two cases of surgery due to carcinoma in the facial skeleton that have required combined and stepwise multispecialistic treatment performed at Department of Prosthetic Dentistry and Department of Periodontology and Oral Disease, Dental Institute, Medical University of Warsaw are presented. The therapy has involved treatment of periodontitis and applying appropriate construction of prostheses that would relieve periodontium and splinting teeth.

Transient oral cavity and skin complications after mucositis preventing therapy (palifermin) in a patient after allogeneic PBSCT. Case history.

PURPOSE: The aim of this study was to assess the state of oral mucosa in a patient after allo-PBSCT who has received palifermin, a recombinant human keratinocyte growth factor. MATERIAL AND METHODS: A 19-year-old male was treated in the Department of Haematology of the Medical University in Warsaw due to the AML. Conditional chemotherapy was applied, according to the BuCy 4 + ATG regimen and allogeneic haematopoietic cells transplantation from an unrelated donor. He was receiving palifermin intravenously for 3 consecutive days immediately before the initiation of conditioning therapy and after allogeneic PBSCT. On day +3 the oral mucous membrane was pale and swollen, with linea alba visible on cheeks. Superficial glossitis and viral pharyngitis were noted. Beginning with day +5/+6 proliferative gingivitis was observed. On day +9 gingival contour was altered and the gingiva covered nearly completely tooth crowns of all teeth. The gingiva were whitened, as if covered by thick epithelium. Slight gingival hyperplasia was still observed on day +24. Since day +4/+5 skin rash coexisted, spreading over hairy head skin, face, dorsum and chest. Disseminated papulopustular (acne-like) lesions were observed, some of them related to the hair follicles. Skin changes were present till day +15. CONCLUSIONS: Palifermin is an efficient pharmaceutical in mucositis prevention in patients after allogeneic PBSC transplantation. Transient complication of hyperplastic gingivitis with a concomitant skin eczema of a papulopustular nature arose.

[Epidemiologic studies of oral mucosa changes occurring in children, adolescents, and adults 13-24 years of age in Warsaw]. / Badania epidemiologiczne wystepowania zmian na blonie sluzowej jamy ustnej u dzieci, mlodziezy i doroslych w wieku 13-24 lat w Warszawie.

The aim of the study was the analysis of RAS occurrence in the population and a comparison to other oral mucosa lesions as well as an analysis of the influence of various factors on RAS occurrence: age, social status of the subject's, parents' education, CPITN index. In the school year 1994/95 a questionnaire concerning the frequency of RAS was distributed to children and adolescents (13-18y) from two Warsaw schools and a group of soldiers of the Polish Army serving in Warsaw. Additionally, all study participants were checked towards RAS by the use of the clinical methods according to WHO methodological guidelines. The periodontal state was measured with the CPITN index described by Ainamo. The following diseases were identified: RAS, leukoplakia, lichen planus, herpes simplex and tongue lesions. The most common declared diseases of oral mucosa was RAS, which usually occurred to patients of age below 18. Clinically the most often observed diseases were oral leukoplakia in soldiers' group and RAS in both students' groups. RAS occurs more often in students, whose parents have higher education compared with persons whose parents have primary education. Parental history of disease (cases of RAS among family members) predisposes to occurrence of RAS. Stress and exhaustion are the supporting factors of RAS incidence. Furthermore, clinical periodontal status and treatment needs may also cause the increase of RAS incidence.