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AIMS: The oral microbiota composition of patients diagnosed with Papillon-Lefèvre-syndrome and treated for several years were compared to those existing in the oral cavity of the clinically healthy family members and a cohort of patients having various stages of chronic periodontitis. MATERIALS AND METHODS: A family with two sisters affected with severe periodontitis and with the typical skin symptoms of Papillon-Lefèvre-syndrome, and symptomless parents and third sibling were investigated. The Patients received periodontal treatment for several years and their oral microbiome was analysed by amplicon sequencing. Data were evaluated by microbial cluster analysis. RESULTS: The microbiome of the patients with Papillon-Lefèvre-syndrome was predominated with Aggregatibacter actinomycetemcomitans and associated oral periodontopathogens. Although the clinically healthy family members showed no oral disorder, their microbiome resembled that of subjects having mild periodontitis. CONCLUSIONS: Predominance of A. actinomycetemcomitans in the subgingival microbiome of patients with Papillon-Lefèvre-syndrome suggests that specific treatment strategies directed against this pathobiont may improve the oral health status of the affected individuals. TRIAL REGISTRATION: The study was conducted in accordance with the Declaration of Helsinki and the ethical permission has been issued by the Human Investigation Review Board of the University of Szeged, Albert Szent-Györgyi Clinical Centre (Permission No. 63/2017-SZTE). September 19, 2017. https://u-szeged.hu/klinikaikutatas/rkeb-altal-jovahagyott/rkeb-2017 .
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Doença de Papillon-Lefevre , Periodontite , Humanos , Periodontite/terapia , Nível de SaúdeRESUMO
The aim of the present review is to provide an up-to-date picture of what we know about the connection between odontogenic foci and non-oral diseases. After a brief historical summary, we give an overview on how the odontogenic focus causes disease in distant areas of the body in general, and then we start the discussion of the particular conditions, such as cardiovascular diseases, pneumonia, diabetes mellitus, metabolic syndrome, rheumatoid arthritis and adverse pregnancy outcomes. The review is centered around the two main odontogenic foci: periodontitis and periapical periodontitis, the latter being a widely recognized but rarely discussed oral focus. Finally, we offer a few considerations that the practicing dentist may find useful when dealing with odontogenic foci. Orv Hetil. 2018; 159(11): 415-422.
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Infecções/etiologia , Doenças Periodontais/complicações , Artrite Reumatoide/etiologia , Doenças Cardiovasculares/etiologia , Diabetes Mellitus/etiologia , Suscetibilidade a Doenças , Feminino , Humanos , Masculino , Síndrome Metabólica/etiologia , Pneumonia Bacteriana/etiologia , Gravidez , Complicações Infecciosas na Gravidez/etiologia , Fatores de RiscoRESUMO
Papillon-Lefèvre syndrome, a rare disease with autosomal recessive inheritance, is characterized by aggressive periodontitis and palmoplantar hyperkeratosis. Mutations of the cathepsin C gene are responsible for the development of the disease. In this study, we aimed to describe in details the clinical symptoms and to determine the underlying genetic abnormality in two Hungarian siblings affected by Papillon-Lefèvre syndrome. The siblings are under regular dental and dermatological care since their symptoms appeared, but, due to the fact that genetic analysis of Papillon-Lefèvre syndrome has been available for one or two years in Hungary, their mutation screenings were just recently performed. We have identified a homozygous missense mutation on the cathepsin C gene, which is an already published mutation and was originally reported from Germany. Our investigations would like to draw attention to a rare disease, Papillon-Lefèvre syndrome, in which first symptom can be the aggressive periodontitis, and in which genetic testing and for helping child-bearing and family planning is now available.
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Catepsina C/genética , Boca Edêntula/genética , Boca Edêntula/reabilitação , Mutação de Sentido Incorreto , Doença de Papillon-Lefevre/genética , Adulto , Periodontite Agressiva/genética , Periodontite Agressiva/reabilitação , Europa (Continente) , Feminino , Humanos , Hungria , Doença de Papillon-Lefevre/diagnóstico , Linhagem , Análise de Sequência de DNARESUMO
Periodontitis is one of the most widespread bacterial infectious oral diseases that affects a significant percentage of the population worldwide. Different bacterial strains are responsible for the chronic inflammation and subgingival plaque that could be effectively treated with prolonged exposure to therapeutic levels of antibiotics and antiseptics in the periodontal pockets. Medicated in situ gels of chlorhexidine (CHX), for extended drug release and long-lasting antiseptic effect in the targeted cavities, were prepared in a two-compartment system. One compartment was loaded with sodium alginate solution while other was filled with CHX and calcium solution. The mixing of the solutions during the application resulted in gelation. Two 33 full factorial designs were applied in this study in order to optimize the gel formulation. Initially, the effects of concentration of gelling agent, crosslinker, and pH of the system on the dependent variables such as gel formation and structure characteristics were investigated. Then, the concentration of the crosslinker was optimized. Afterwards, the effect of gelling agent, loading of the drug, and pH of the gel system were correlated with the gel characteristics through another factorial design. Optimized formulations were tested for mucoadhesion, in vitro drug release, and microbiological investigation. Based on the results of the factorial design, mucoadhesiveness, antimicrobial investigation, and drug release, a 4 % alginate composition can be considered optimal. Overall, the optimized in situ periodontal gel was found to be effective with prolonged retention time and desirable outcomes.
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Anti-Infecciosos Locais , Periodontite , Humanos , Clorexidina , Periodontite/tratamento farmacológico , Preparações de Ação Retardada/química , Excipientes , Géis/químicaRESUMO
Összefoglaló. Bevezetés és célkituzés: A gingivahyperplasia a kalciumcsatorna-blokkoló gyógyszerek gyakori mellékhatása. Eredményeink közlésének célja, hogy bemutassuk, sebészi terápia nélkül, megfelelo egyéni szájhigiénia kialakításával és nem sebészi parodontalis terápiával milyen eredményt tudunk elérni az ínymegnagyobbodás kezelése során. Módszer: A Szegedi Tudományegyetem Fogorvostudományi Karának Parodontológiai Tanszékén 2015 és 2019 között 10 - 7 no és 3 férfi, átlagéletkoruk 56 év (50-69 év) volt -, kalciumcsatorna-blokkoló gyógyszer szedése során kialakuló, Grade III. ínyhyperplasiában szenvedo páciens kezelését végeztük konzervatív parodontalis módszerekkel, a gyógyszercsere mellozésével. A legfontosabb parodontalis értékeket rögzítettük, a tasakmélység, a vérzési index, a plakkindex és a fogmozgathatóság értékeit összegeztük vizsgálatunkban. A parodontium destrukciója mértékének megállapításához ortopantomogram és periapicalis röntgenfelvételeket értékeltünk. Eredmények: Minden parodontológiai paraméterben jelentos javulást tapasztaltunk. A nem sebészi parodontalis terápia eredményeként megszunt az elváltozás mind a 10 betegnél, és a szigorú fenntartó terápiának is köszönhetoen nem is újult ki. Következtetés: A nem sebészi terápia alkalmasnak bizonyult a súlyos gingivahyperplasia definitív kezelésére, ha az gingivitis vagy enyhe és középsúlyos parodontitis talaján alakult ki. Arra is következtethetünk az eredményeinkbol, hogy a gyógyszeres terápia megkezdése elott vagy azzal párhuzamosan parodontológiai terápiában részesülo páciensek nagy részénél a gingivahyperplasia - s ezzel a hosszú ideig tartó, drága kezelés - megelozheto lenne. Orv Hetil. 2022; 163(13): 506-512. INTRODUCTION AND OBJECTIVE: Gingival overgrowth is an adverse drug reaction in patients on long-term calcium channel blocker therapy. The aim of this study was to assess the efficacy of non-surgical pocket therapy in patients suffering from Grade III drug-related gingival overgrowth. METHOD: 10 (7 female and 3 male) patients (age between 50-69 years) diagnosed with severe, Grade III gingival overgrowth were treated in our department. Non-surgical periodontal therapy consists of improving of individual oral hygiene, scaling, polishing and subgingival mechanical debridement instrumentation. The main periodontal parameters (probing pocket depth, bleeding index, plaque index and mobility) were scored in this study. Bone loss was evaluated by orthopantomograms and periapical radiographs. Calcium channel blockers have not been replaced by any other medications during the whole course of periodontal treatment. RESULTS: Compared with baseline parameters, all scores improved after therapy. All patients showed decrease in the average probing pocket depth, deepest probing pocket depth, bleeding scores, plaque scores and tooth mobility. None of the patients needed further surgical treatment. In our followed-up patients, recurrence of gingival overgrowth has not been observed during the two-year meticulous supportive periodontal care in the patient group. CONCLUSION: Non-surgical periodontal treatment can be a potential definitive therapy in Grade III gingival overgrowth associated with gingivitis or moderate periodontitis. Periodontal screening and treatment before or simultaneously with the administration of calcium channel blockers can prevent the gingival enlargement in the majority of patient. These results outline the importance of the successful cause related periodontal therapy, started before or simultaneously with the administration of anithypertensive medications and in this way a series of further expensive therapies could be anticipated. Orv Hetil. 2022; 163(13): 506-512.
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Hiperplasia Gengival , Crescimento Excessivo da Gengiva , Idoso , Bloqueadores dos Canais de Cálcio/uso terapêutico , Feminino , Hiperplasia Gengival/induzido quimicamente , Crescimento Excessivo da Gengiva/induzido quimicamente , Crescimento Excessivo da Gengiva/terapia , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Összefoglaló. Az irodalmi adatok arra utalnak, hogy a systolés vérnyomás értékének emelkedése már 110-115 Hgmm-tol együtt jár az atherosclerosissal összefüggo elváltozások kialakulásával is és ezzel együtt a cardiovascularis és a renalis funkció romlásával. Az összefüggés exponenciális, de mértékét az életkor jelentosen befolyásolja. A kezelés során az elérendo vérnyomás célértéke a jelenlegi adatok alapján 120-130 Hgmm között helyezkedik el a 18-65 év közötti populációban; idosebb korban - különösen 80 év felett - ennél magasabb, a 130 Hgmm alatti érték elérése nem reális, de talán nem is szükséges. A leghelyesebb az egyéni vérnyomásprofil meghatározása, és számos befolyásoló tényezot is figyelembe kell venni a páciens legmegfelelobb kezeléséhez. A populáció egészségének javításához és megorzéséhez az egyik legfontosabb és leggyakoribb cardiovascularis kockázati tényezot, a magas vérnyomást idoben fel kell fedezni, amihez a vérnyomást rendszeresen szükséges ellenorizni, és ezzel párhuzamosan kell végezni a prevenciót célzó tevékenységeket (nevelés, oktatás, szurés, egészségtudatos életmód) is. Orv Hetil. 2021; 162(34): 1351-1361. Summary. The data in the literature suggest that the increase in the value of systolic blood pressure from 110-115 mmHg leads to the development of atherosclerotic process and to the deterioration of cardiovascular and renal function. The correlation is initially linear, then above 140-150 mmHg it is already exponential, but it is also related to the progression of the age. The systolic target for therapy is between 120-130 mmHg in the population aged 18-65; in older ages - especially over 80 years - it is higher and reaching the value below 130 mmHg is unrealistic, and may even be not necessary. It is the best to determine the individual treatment, taking into account the individual blood pressure profile and the factors influencing the patient. In order to improve and maintain the health of the population - in addition to unknown hypertension - it is necessary to regularly monitor blood pressure and apply the known preventive methods (education, training, screening, etc). Orv Hetil. 2021; 162(34): 1351-1361.
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Objetivos , Hipertensão , Idoso , Pressão Sanguínea , Humanos , Hipertensão/tratamento farmacológico , Pessoa de Meia-Idade , SístoleRESUMO
Periodontitis is caused by pathogenic subgingival microbial biofilm development and dysbiotic interactions between host and hosted microbes. A thorough characterization of the subgingival biofilms by deep amplicon sequencing of 121 individual periodontitis pockets of nine patients and whole metagenomic analysis of the saliva microbial community of the same subjects were carried out. Two biofilm sampling methods yielded similar microbial compositions. Taxonomic mapping of all biofilms revealed three distinct microbial clusters. Two clinical diagnostic parameters, probing pocket depth (PPD) and clinical attachment level (CAL), correlated with the cluster mapping. The dysbiotic microbiomes were less diverse than the apparently healthy ones of the same subjects. The most abundant periodontal pathogens were also present in the saliva, although in different representations. The single abundant species Tannerella forsythia was found in the diseased pockets in about 16-17-fold in excess relative to the clinically healthy sulcus, making it suitable as an indicator of periodontitis biofilms. The discrete microbial communities indicate strong selection by the host immune system and allow the design of targeted antibiotic treatment selective against the main periodontal pathogen(s) in the individual patients.
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Microbiota , Periodontite , Biofilmes , Disbiose , Gengiva , Humanos , Periodontite/diagnósticoRESUMO
Fibers were spun from a mixture of dichloromethane (DCM) and dimethyl sulfoxide (DMSO) solution of poly(lactic acid)(PLA) containing various amounts of amoxicillin (Amox) as the active component. Composition changes during spinning, structure, solubility, and the location of the drug were considered during the evaluation of drug release and microbial activity. The results showed that the composition of the material changes during the preparation procedure. The solubility of the drug in the components and that of the components in each other is limited, which results in the formation of several phases and the precipitation of the drug. The technology used results in the partitioning of the drug; some is located inside, while the rest is among the fibers. The wetting of the fibers or disks by the water-based dissolution media is poor, the penetration of the liquid into and the diffusion of the active component out of the device takes considerable time. Drug release takes place in one, burst-like step, only Amox located among the fibers dissolve and diffuse into the surrounding medium. The slow second stage of release claimed in the literature is less probable because the size of the Amox molecule is considerably larger than the holes creating the free volume of the polymer. The prepared device has antimicrobial activity, inhibits the growth of the two bacterial strains studied. The time scale of activity is short and corresponds to that of the release experiments and the burst-like behavior of the device. The results clearly prove that physical-chemical factors play a determining role in the effect and efficiency of medical devices prepared from electrospun fibers containing an active component.
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Periodontitis is a set of inflammatory conditions affecting the tissues surrounding the teeth predominantly sustained by bacterial infections. The aim of the work was the design and the development of scaffolds based on biopolymers to be inserted in the periodontal pocket to restore tissue integrity and to treat bacterial infections. Nanofibrous scaffolds were prepared by means of electrospinning. Gelatin was considered as base component and was associated to low and high molecular weight chitosans and alginate. The scaffolds were characterized by chemico-physical properties (morphology, solid state-FTIR and differential scanning calorimetry (DSC)-surface zeta potential and contact angle), and mechanical properties. Moreover, preclinical properties (cytocompatibility, fibroblast and osteoblast adhesion and proliferation and antimicrobial properties) were assessed. All the scaffolds were based on cylindrical and smooth nanofibers and preserved their nanofibrous structure upon hydration independently of their composition. They possessed a high degree of hydrophilicity and negative zeta potentials in a physiological environment, suitable surface properties to enhance cell adhesion and proliferation and to inhibit bacteria attachment. The scaffold based on gelatin and low molecular weight chitosan proved to be effective in vitro to support both fibroblasts and osteoblasts adhesion and proliferation and to impair the proliferation of Streptococcus mutans and Aggregatibacter actinomycetemcomitans, both pathogens involved in periodontitis.
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PURPOSE: Electrospun PLA fiber devices were investigated in the form of fiber mats and disks. Metronidazole was used as an active agent; its concentration was 12.2 and 25.7 wt% in the devices. METHODS: The structure was studied by X-ray diffraction and scanning electron microscopy, drug release by dissolution measurements, while the antimicrobial efficiency was tested on five bacterial strains. RESULTS: The XRD study showed that the polymer was partially crystalline in both devices, but a part of metronidazole precipitated and was in the form of crystals among and within the fibers. Liquid penetration and dissolution were different in the two devices, they were faster in disks and slower in fiber mats, due to the morphology of the device and the action of capillary forces. Disks released the drug much faster than fiber mats. Although the release study indicated fast drug dissolution, the concentration achieved a plateau value in 24 hrs for the disks; the inhibition effect lasted much longer, 13 days for bacteria sensitive to metronidazole. The longer inhibition period could be explained by the slower diffusion of metronidazole located inside the fibers of the device. CONCLUSION: The results suggest that the devices may be effective in the treatment of periodontitis.
Assuntos
Antibacterianos/farmacologia , Metronidazol/farmacologia , Doenças Periodontais/tratamento farmacológico , Poliésteres/química , Aggregatibacter actinomycetemcomitans/efeitos dos fármacos , Antibacterianos/química , Liberação Controlada de Fármacos , Eikenella corrodens/efeitos dos fármacos , Firmicutes/efeitos dos fármacos , Fusobacterium nucleatum/efeitos dos fármacos , Humanos , Metronidazol/química , Testes de Sensibilidade Microbiana , Microscopia Eletrônica de Varredura , Tamanho da Partícula , Doenças Periodontais/microbiologia , Prevotella intermedia/efeitos dos fármacos , Propriedades de Superfície , Difração de Raios XRESUMO
BACKGROUND: Despite being a highly prevalent disease and a possible contributor to adult tooth loss, periodontitis possesses no well-established therapy. The aim of the recent study was the development and evaluation of a mucoadhesive monophase lipid formulation for the sustained local delivery of amoxicillin, metronidazole, and/or zinc hyaluronate or gluconate. METHODS: To investigate our formulations, differential scanning calorimetry, X-ray diffraction, swelling, erosion, mucoadhesivity, drug release, and antimicrobial measurements were performed. RESULTS: Differential scanning calorimetry (DSC) and X-ray diffraction (XRD) results show that the loaded drugs are in a suspended form, the softening of the formulations starts at body temperature, but a part remains solid, providing sustained release. Swelling of the lipid compositions is affected by the hydrophilic components, their concentration, and the strength of the coherent lipid structure, while their erosion is impacted by the emulsification of melted lipid components. CONCLUSIONS: Results of drug release and antimicrobial effectiveness measurements show that a sustained release may be obtained. Amoxicillin had higher effectiveness against oral pathogens than metronidazole or zinc hyaluronate alone, but the combination of the two latter could provide similar effectiveness to amoxicillin. The applied mucoadhesive polymer may affect adhesivity, drug release through the swelling mechanism, and antimicrobial effect as well.
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BACKGROUND: Periodontitis is a chronic inflammatory disease, which affects the supporting tissues of the teeth, and without proper treatment it may lead to tooth loss. Antibiotics - administered orally - have been widely used in the treatment of periodontitis. With the conventional administration routes, adequate drug levels cannot be reached in the periodontal pockets and oral application of antimicrobials could lead to side effects. Drug delivery systems containing antibiotics, administered at the site of infection, could possibly help eliminate pathogen bacteria and treat periodontitis. OBJECTIVE: The aim of the recent study was to create a locally swellable, biodegradable, biocompatible, mucoadhesive, lipophilic drug delivery system containing antimicrobial drugs which softens at body temperature, accommodate to the shape of the periodontal pocket and can provide extended drug release for at least one week. METHODS: During the formulation, thermoanalytical, consistency, wettability, swelling, degradation and drug release studies were applied to determine the ideal ratios of lipid bases, structure-building components and surface active agent concentrations. RESULTS AND DISCUSSION: The structure-building component cetostearyl alcohol appeared to be the most convenient, thanks to its wettability and mechanical properties, which led to controlled drug release. With the use of ideal concentrations of components (10% surfactant, 40% structure-building component, 32 % lipid base, 15% antimicrobial agent and 3% polymer), sustained drug release can be provided up to nearly 3 weeks.
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Antibacterianos/farmacologia , Composição de Medicamentos , Sistemas de Liberação de Medicamentos , Lipídeos/química , Doenças Periodontais/tratamento farmacológico , Streptococcus mutans/efeitos dos fármacos , Antibacterianos/química , Varredura Diferencial de Calorimetria , Humanos , Testes de Sensibilidade Microbiana , Doenças Periodontais/microbiologia , MolhabilidadeRESUMO
The purpose of this study was to evaluate the changes of the periodontal parameters of mobile, but splinted teeth with intracoronal fiber reinforced composite and compare to non-mobile teeth in maintenance phase. We splinted 73 teeth (29 non-mobile, 44 mobile) in 18 cases. The periodontal parameters - probing depth, gingival index (Loe-Silness, 1964), plaque index (Silness-Loe, 1965) - were monitored clinically immediately, 1 year and 2 years after complete periodontal treatment. There were scored 69 treated teeth after 1 year and 37 treated teeth after 2 years. Statistical comparisons were performed using Wilcoxon test for two related parameters and Mann-Whitney U test for two independent parameters in the software package SPSS 11.0 for Windows (SPSS, Chicago, IL, USA). There was not mobility recorded at splinted teeth neither after treatment immediately nor at recall visits. The periodontal parameters demonstrated no significant changes of probing depth (-0,08 +/- 0,41, 0,05 +/- 0,51) and gingival index (-0,32 +/- 0,79, -0,32 +/- 0,75) 1 and 2 years after complete therapy. There was significant decrease in plaque index (-0,77 +/- 0,43, -0,36 +/- 0,55) measured at recall visits. No significant differences were detected between the mobile and the non-mobile groups in all parameters. No significant correlation between changes of gingival index and plaque index was determined. The intracoronal FRC splint do not obstruct the individual and professional oral hygiene. The stabilize of mobile teeth allow the same healing like a non-mobile teeth.
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Contenções Periodontais , Mobilidade Dentária/terapia , Adulto , Índice de Placa Dentária , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Perda da Inserção Periodontal/terapia , Índice Periodontal , Fatores de Tempo , CicatrizaçãoRESUMO
The periodontal abscess is an acute destructive process in the periodontium resulting in localized collections of pus communicating with the oral cavity through the gingival sulcus or other periodontal sites and not arising from the tooth pulp. The prevalence of periodontal abscess is relatively high and it affects the prognosis of the tooth. Periodontal abscesses can develop on the base of persisting periodontitis but can also occur in the absence of periodontitis. The cause of the development of periodontal abscess originating from chronic periodontitis is the marginal closure of a periodontal pocket, or the pocket lumen might be too tight to drain the increased suppuration due to changes in the composition of subgingival microflora, alteration of bacterial virulence or host defenses. Diagnosis of a periodontal abscess is based on medical and dental history as well as oral examination (pocket depth, swelling, suppuration, mobility, sensibility of the tooth). The most prevalent group of bacteria: P. gingivalis, P. intermedia, B. forsythus, F. nucleatum and P. micros. Previous studies have suggested that the complete therapy of the periodontitis patients with acute periodontal abscess has to do in two stages: the first stage is the management of acute lesions, then the second stage is the appropriate comprehensive treatment of the original and/or residual lesions. The management of acute lesions includes establishing drainage via pocket lumen, subgingival scaling and root planing, curettage of the lining pocket epithelia and seriously inflamed connective tissue, compressing pocket wall to underlying tooth and periodontal support, and maintaining tissue contact. Some authors recommend the incision or to establish drainage and irrigation, or a flap surgery, or even extraction of hopeless teeth. We recommend the use of systemic antibiotics as a preventive measure of systemic disease or in case of systemic symptoms.
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Abscesso Periodontal , Doença Aguda , Antibacterianos/administração & dosagem , Doença Crônica , Drenagem , Humanos , Abscesso Periodontal/diagnóstico , Abscesso Periodontal/etiologia , Abscesso Periodontal/terapia , Periodontite/complicações , Periodontite/tratamento farmacológicoRESUMO
Even in the ancient age there was an ambition to fix loose teeth. From the 1950s almost the same materials were used for splinting like today. A real breakthrough happened with the introduction of the etching method and the development of better composites as well as fiber-reinforced materials. In this paper the authors give a review of literature and their experience about the fiber-reinforced composites (FRC). Properties and use of the fiber-reinforced composites are presented, and suggestions are given how to apply the different materials for splinting, orthodontic retentive treatment, fixing traumatised mobile teeth, or temporary and long-distance provisional and permanent prostheses.
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Resinas Acrílicas , Resinas Compostas , Coroas , Restauração Dentária Permanente , Prótese Parcial , Aparelhos Ortodônticos , Contenções Periodontais , Poliuretanos , HumanosRESUMO
Attachment loss through advanced periodontitis results in tooth mobility, and then loss of teeth. To prevent progression it is needed to eliminate any exciting agent and correct functional disorders in consequence of disease. Regeneration of periodontium is impossible and mastication is difficult because of tooth mobility. Long-term maintenance of mobile teeth is doubtful. We have to prevent the extraction of these teeth to stabilise them by a splint made of material that is inexpensive, reparable, provides sufficient support for the artificial tooth. Fiber-Reinforced Composite (FRC) fulfills the above requirements. In their case-reports the authors demonstrate the practical application of splinting with FRC materials. In these cases the FRC splints are not only periodontal splints but they act as orthodontic retainers or supports for an artificial tooth.
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Resinas Compostas , Restauração Dentária Permanente , Contenções Periodontais , Periodontite/terapia , Adulto , Feminino , Humanos , MasculinoRESUMO
Christ-Siemens-Touraine syndrome (CST; OMIM 305100) belongs to the group of ectodermal dysplasias and is characterized by the development of sparse hair, abnormal or missing teeth and sweating deficiency. CST is the consequence of mutations located in the ectodysplasin A (EDA1) gene. We have identified a 35-year-old Hungarian man with characteristic dysmorphic facial features, sparse hair, reduced sweating and missing teeth. Direct sequencing of the coding regions revealed a novel missense mutation in the eighth exon (c.971T/A, p.Val324Glu). The affected patient carries the mutation in a hemizygous form. Previous studies reported the association of missense mutations with non-syndromic tooth agenesis. However, the reported hemizygous patient exhibits hypodontia as well as hypotrichosis and reduced sweating. His daughter, an obligate heterozygous carrier of the identified missense mutation, exhibits only mild teeth abnormalities. As the novel missense mutation is located within the tumor necrosis factor (TNF) domain of the ectodysplasin protein, we hypothesize that this genetic variant affects the ectodysplasin/NFκB signaling pathway.
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Displasia Ectodérmica Anidrótica Tipo 1/genética , Ectodisplasinas/genética , Mutação de Sentido Incorreto/genética , Adulto , Anodontia/genética , Fácies , Variação Genética , Humanos , Hungria , Hipo-Hidrose/genética , Hipotricose/genética , Masculino , NF-kappa B/genética , Transdução de Sinais/genética , Fator de Necrose Tumoral alfa/genéticaRESUMO
Papillon-Lefèvre syndrome (PLS; OMIM 245000) is an autosomal recessive condition characterized by palmoplantar hyperkeratosis and periodontitis. In 1997, the gene locus for PLS was mapped to 11q14-21, and in 1999, variants in the cathepsin C gene (CTSC) were identified as causing PLS. To date, a total of 75 different disease-causing mutations have been published for the CTSC gene. A summary of recurrent mutations identified in Hungarian patients and a review of published mutations is presented in this update. Comparison of clinical features in affected families with the same mutation strongly confirm that identical mutations of the CTSC gene can give rise to multiple different phenotypes, making genotype-phenotype correlations difficult. Variable expression of the phenotype associated with the same CTSC mutation may reflect the influence of other genetic and/or environmental factors. Most mutations are missense (53%), nonsense (23%), or frameshift (17%); however, in-frame deletions, one splicing variant, and one 5' untranslated region (UTR) mutation have also been reported. The majority of the mutations are located in exons 5-7, which encodes the heavy chain of the cathepsin C protein, suggesting that tetramerization is important for cathepsin C enzymatic activity. All the data reviewed here have been submitted to the CTSC base, a mutation registry for PLS at http://bioinf.uta.fi/CTSCbase/.
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Papillon-Lefévre syndrome (PLS; OMIM 245000) is a rare autosomal recessive condition characterized by symmetrical palmoplantar hyperkeratosis and periodontal inflammation, causing loss of both the deciduous and permanent teeth. PLS develops due to mutations in the cathepsin C gene, CTSC. Recently we have identified a Hungarian PLS family with two affected siblings. Direct sequencing of the coding regions of the CTSC gene revealed a novel seven-base deletion leading to frameshift and early stop codon in the fourth exon of the CTSC gene (c.681delCATACAT, p.T188fsX199). The affected family members carried the mutation in homozygous form, while the clinically unaffected family members carried the mutation in heterozygous form. The unrelated controls carried only the wild type sequence. In this paper we report a novel homozygous deletion of seven bases on the CTSC gene leading to the development of PLS. Since consanguineous marriage was unknown in the investigated family, the presence of the homozygous seven-base deletion of the CTSC gene may suggest that the parents are close relatives.