High prevalence of hyposalivation in individuals with neurofibromatosis 1: a case-control study
TL;DR: Hyposalivation may be a consequence of NF1, as occurs in other genetic diseases, and more studies are necessary to understand if there is and what is the relationship between NF1 and hyposalivation.
Abstract: Background
Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases in humans and has widely variable expressivity. Oral manifestations are common, but there are no studies that investigated functional alterations in salivary glands in NF1. Our aim was to evaluate the salivary flow rate in NF1 individuals, comparing to a control group, and to investigate the possible causes and some consequences of salivary gland alteration.
Citations
More filters
TL;DR: The experience of dental caries in individuals with FXS was correlated with salivary parameters, poor oral hygiene, lower socioeconomic status and an increased count of S. mutans in saliva.
Abstract: Fragile X syndrome (FXS) is the most common cause of hereditary mental retardation, but studies on the oral health condition of these patients are rare. The aim of this study was to determine the experience of dental caries in individuals with FXS, by examining the saliva profile, oral hygiene, socioeconomic characteristics and use of controlled drugs in these patients. Dental health was estimated using the decayed, missing and filled teeth index (DMF-T) and sialometry, and the pH value and buffering capacity of the saliva, colony forming units of S. mutans (CFU/mL), visible biofilm index, and socioeconomic status were all examined. The sample, comprising 23 individuals, had an average age of 17.3 ± 5.6 years, a DMF-T index of 5.5, a diminished salivary flow (78.3%), and a low (73.9%) saliva buffering capacity. Most (52.2%) individuals presented with a high abundance (CFU/mL) of S. mutans. The experience of caries was correlated with salivary parameters, poor oral hygiene, lower socioeconomic status and an increased count of S. mutans in saliva.
8 citations
TL;DR: In this article , the functional salivary analysis was performed to identify mutually activated pathways for NF1-associated oral complications, including periodontal destruction, salivial changes, and dental caries in NF1 patients.
Abstract: Most craniofacial manifestations of neurofibromatosis type 1 (NF1) are considered as a result of tumor compression. We sought to determine salivary changes, caries, and periodontal complications in NF1 patients without tumors in the oral cavity.Eleven NF1 patients without tumors in the oral cavity and 29 matched controls without NF1 were enrolled in this case-control study. Demographic information, medical history, and data of intraoral examinations, including the Decayed, Missing, and Filled Teeth (DMFT) scores and Russel's periodontal index (PI), were recorded. The functional salivary analysis was performed for sialometry, salivary pH values, and amylase activity. Ingenuity Systems Pathway Analysis (IPA) was conducted to identify mutually activated pathways for NF1-associated oral complications.NF1 patients were associated with periodontitis (OR = 1.40, 95% CI = 1.06-1.73, P = 0.04), gingivitis (OR = 1.55, 95% CI = 1.09-2.01, P = 0.0002), and decreased salivary flow rates (OR = 1.40, 95% CI = 1.05-1.76, P = 0.005). Periodontal destruction, salivary changes, and dental caries in NF1 patients were age-dependent. Subgroup analyses based on age stratification suggested that salivary flow rates and salivary amylase activities were significantly low in NF1 patients aged over 20 years and that salivary pH values, PI and DMFT scores were significantly high among NF1- controls aged over 20. All oral complications were not significantly presented in NF1 patients aged below 20 years. IPA analyses suggested that cellular mechanisms underlying NF1-associated oral complications involved chronic inflammatory pathways and fibrosis signaling pathway.NF1 patients without tumors in the oral cavity presented a comparatively high prevalence of age-dependent oral complications, including periodontal destruction and salivary gland dysfunction, which were associated with chronic inflammatory pathogenesis.
8 citations
TL;DR: Brazilian children, adolescents and adults with NF1 have short mandible, maxilla and skull base, and children and adolescents present mandibular retrusion.
Abstract: BACKGROUND Oral manifestations are common in neurofibromatosis 1 (NF1), and include jaws and teeth alterations. Our aim was to investigate the craniomaxillofacial morphology of Brazilian children, adolescents and adults with NF1 using cone beam computed tomography. MATERIAL AND METHODS This study was conducted with 36 Brazilian individuals with NF1 with ages ranging from 4 to 75. The participants were submitted to anamnesis, extra and intraoral exam and cephalometric analysis using cone beam computed tomography. Height of the NF1 individuals was compared to the length of jaws and skull base. The results of the cephalometric measurements of the NF1 group were compared with a control group paired by age, gender and skin color. RESULTS Individuals with NF1 had lower maxillary length (p<0.0001), lower mandibular length (p<0.0001), lower skull base length (p<0.0001). In children and adolescents, the mandible was more posteriorly positioned (p=0.01), when compared with the control group. There was no association between jaws and skull base length with the height of the individuals with NF1. CONCLUSIONS Brazilian children, adolescents and adults with NF1 have short mandible, maxilla and skull base. Moreover, children and adolescents present mandibular retrusion.
8 citations
Cites background from "High prevalence of hyposalivation i..."
...(4–10) The most common oral manifestations in NF1 are the enlargement of fungiform papillae of the tongue, intraoral neurofibromas, alveolar ridge deformities, enlargement of the mandibular canal and mandibular foramen, and hyposalivation (4-10)....
[...]
TL;DR: The oral manifestations of neurofibromatosis type 1 are reviewed, illustrated by a patient followed in the center of rare diseases of the hospital Henri Mondor, clinical service in which the patient works.
Abstract: Neurofibromatosis type 1 (NF-1) is a common genetic disorder with a highly variable phenotype. The disease affects both proliferation and differentiation of cells of neurectodermal origin. The presence of tumors is very common like benign nodular neurofibromas. Tumors with unclear prognosis may be present like plexiform neurofibromas whose prognosis is more uncertain. While many organs exhibit pathologies, most commonly affected are the nervous system, skin, gastrointestinal tract and heart. Oral abnormalities are also very common: 72% of NF-1 patients exhibit pathologies in oral mucosa, gums, maxillary and temporomandibular joints, and teeth. The incidence of NF-1 and its relationship to the prevalence of caries have been discussed in other researches. It is known that poor oral hygiene plays a key role in the development of periodontal disease and caries. Here we review the oral manifestations of neurofibromatosis type 1 that we illustrate by a patient followed in the center of rare diseases of the hospital Henri Mondor, clinical service in which we work.
7 citations
Cites background from "High prevalence of hyposalivation i..."
...It is described as 4-fold higher than in the control group [76]....
[...]
5 citations
References
More filters
TL;DR: The incidence of jaw and skull involvement in neurofibromatosis may be greater than previously reported in the literature.
93 citations
TL;DR: In nursing home residents, xerostomia, hyposalivation and using hyposalivated-related medications seem common and partially associated features.
Abstract: The study objective was to explore the diagnostic suitability of the Xerostomia Inventory and the association between xerostomia, hyposalivation and medication use in a group of nursing home residents. A cross-sectional study was carried out in 50 physically impaired nursing home residents (20 men) with a mean age of 78.1 years (range, 53-98) in The Netherlands. The Xerostomia Inventory-Dutch version was completed for all residents and the data were subjected to exploratory factor analysis to determine the diagnostic suitability. Residents' data on xerostomia, whole saliva secretion rates and hyposalivation-related medications used were collected and statistically analyzed. The diagnostic suitability of the Xerostomia Inventory-Dutch version appeared restricted. The prevalence of xerostomia was 52%, without gender and age difference. The prevalence of hyposalivation was 24% for resting, 60% for chewing-stimulated and 18% for acid-stimulated whole saliva. All whole saliva secretion rates were significantly lower in women than in men and in older than in younger residents. Forty-four percent of all medications used were hyposalivation-related and women used significantly more medications than men. Xerostomia was significantly negatively correlated with the resting whole saliva secretion rate. The number of hyposalivation-related medications used was not significantly correlated with the various whole saliva secretion rates. In nursing home residents, xerostomia, hyposalivation and using hyposalivation-related medications seem common and partially associated features.
91 citations
TL;DR: It is concluded that the method for evaluating tongue-coating status offers new criteria that are superior in reliability and reproducibility, and that also reflect the total number of anaerobic bacteria present on the dorsum of the tongue.
Abstract: The purpose of this study was to determine the viability of Tongue Coating Index, which is a new method for evaluating tongue-coating status. To determine the reliability and reproducibility of our new evaluation criteria (Score 0: Tongue coating not visible; Score 1: Tongue coating thin, papillae of tongue visible; Score 2: Tongue coating very thick, papillae of tongue not visible), 10 observers evaluated 20 photographs of tongues. Each tongue surface was divided into nine sections. Observers evaluated each section according to our new criteria and each score for tongue-coating status was recorded in the pertinent section of the Tongue Coating Record form. They repeated the same evaluation 2 weeks after the first evaluation. The relationship between the scores obtained and number of oral microorganisms was investigated in 50 edentulous patients. Tongue coating was collected from the tongue surface after evaluation of tongue-coating status. The total number of anaerobic bacteria and the number of Candida species were counted from the specimens collected. Interobserver agreement and intraobserver agreement were 0.66 and 0.80 by Cohen's kappa, respectively. No significant difference was observed in the number of Candida species among the three scores. The number of total anaerobic bacteria, however, was significantly different among the scores (P < 0.05). Therefore, we conclude that our method for evaluating tongue-coating status offers new criteria that are superior in reliability and reproducibility, and that also reflect the total number of anaerobic bacteria present on the dorsum of the tongue.
80 citations
TL;DR: The evidence for the efficacy of clinical methods to assess oral dryness is sparse and it can be stated that improved standards for the reporting of diagnostic accuracy are needed in order to assure the methodological quality of studies.
Abstract: The most advocated clinical method for diagnosing salivary dysfunction is to quantitate unstimulated and stimulated whole saliva (sialometry). Since there is an expected and wide variation in salivary flow rates among individuals, the assessment of dysfunction can be difficult. The aim of this systematic review is to evaluate the quality of the evidence for the efficacy of diagnostic methods used to identify oral dryness. A literature search, with specific indexing terms and a hand search, was conducted for publications that described a method to diagnose oral dryness. The electronic databases of PubMed, Cochrane Library, and Web of Science were used as data sources. Four reviewers selected publications on the basis of predetermined inclusion and exclusion criteria. Data were extracted from the selected publications using a protocol. Original studies were interpreted with the aid of Quality Assessment of Diagnostic Accuracy Studies (QUADAS) tool. The database searches resulted in 224 titles and abstracts. Of these abstracts, 80 publications were judged to meet the inclusion criteria and read in full. A total of 18 original studies were judged relevant and interpreted for this review. In all studies, the results of the test method were compared to those of a reference method. Based on the interpretation (with the aid of the QUADAS tool) it can be reported that the patient selection criteria were not clearly described and the test or reference methods were not described in sufficient detail for it to be reproduced. None of the included studies reported information on uninterpretable/intermediate results nor data on observer or instrument variation. Seven of the studies presented their results as a percentage of correct diagnoses. The evidence for the efficacy of clinical methods to assess oral dryness is sparse and it can be stated that improved standards for the reporting of diagnostic accuracy are needed in order to assure the methodological quality of studies. There is need for effective diagnostic criteria and functional tests in order to detect those individuals with oral dryness who may require oral treatment, such as alleviation of discomfort and/or prevention of diseases.
78 citations
TL;DR: It is shown here, using the small interfering RNA (siRNA) technique, that neurofibromin dynamically regulates actin cytoskeletal reorganization, followed by enhanced cell motility and gross cell aggregation in Matrigel matrix, which may explain, in part, the mechanism of multiple Neurofibroma formation in NF1 patients.
75 citations