49 results on '"Bailleul-Forestier I"'
Search Results
2. Expressions buccodentaires de maladies systémiques en pédiatrie
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Bailleul-Forestier, I
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- 2003
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3. Expression of amelogenin in odontoblasts
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Papagerakis, P, MacDougall, M, Hotton, D, Bailleul-Forestier, I, Oboeuf, M, and Berdal, A
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- 2003
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4. Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome
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Poelmans, S., Kawamoto, T., Christofoli, F., Politis, C., Vermeesch, J., Bailleul-Forestier, I., Hens, G., Devriendt, K., Verdonck, A., Carels, C.E.L., Poelmans, S., Kawamoto, T., Christofoli, F., Politis, C., Vermeesch, J., Bailleul-Forestier, I., Hens, G., Devriendt, K., Verdonck, A., and Carels, C.E.L.
- Abstract
Item does not contain fulltext
- Published
- 2015
5. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
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Kohler, S., Doelken, S.C., Mungall, C.J., Bauer, S., Firth, H.V., Bailleul-Forestier, I., Black, G.C.M., Brown, D.L., Brudno, M., Campbell, J., FitzPatrick, D.R., Eppig, J.T., Jackson, A.P., Freson, K., Girdea, M., Helbig, I., Hurst, J.A., Jahn, J., Jackson, L.G., Kelly, A.M., Ledbetter, D.H., Mansour, S., Martin, C.L., Moss, C., Mumford, A., Ouwehand, W.H., Park, S.M., Riggs, E.R., Scott, R.H., Sisodiya, S., Vooren, S. van der, Wapner, R.J., Wilkie, A.O., Wright, C.F., Silfhout, A.T. van, Leeuw, N. de, Vries, B. de, Washingthon, N.L., Smith, C.L., Westerfield, M., Schofield, P., Ruef, B.J., Gkoutos, G.V., Haendel, M., Smedley, D., Lewis, S.E., Robinson, P.N., Kohler, S., Doelken, S.C., Mungall, C.J., Bauer, S., Firth, H.V., Bailleul-Forestier, I., Black, G.C.M., Brown, D.L., Brudno, M., Campbell, J., FitzPatrick, D.R., Eppig, J.T., Jackson, A.P., Freson, K., Girdea, M., Helbig, I., Hurst, J.A., Jahn, J., Jackson, L.G., Kelly, A.M., Ledbetter, D.H., Mansour, S., Martin, C.L., Moss, C., Mumford, A., Ouwehand, W.H., Park, S.M., Riggs, E.R., Scott, R.H., Sisodiya, S., Vooren, S. van der, Wapner, R.J., Wilkie, A.O., Wright, C.F., Silfhout, A.T. van, Leeuw, N. de, Vries, B. de, Washingthon, N.L., Smith, C.L., Westerfield, M., Schofield, P., Ruef, B.J., Gkoutos, G.V., Haendel, M., Smedley, D., Lewis, S.E., and Robinson, P.N.
- Abstract
Contains fulltext : 136954.pdf (publisher's version ) (Open Access), The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes using terms from ontologies for anatomy, cell types, function, embryology, pathology and other domains. This allows interoperability with several resources, especially those containing phenotype information on model organisms such as mouse and zebrafish. Here we describe the updated HPO database, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO. Various meta-attributes such as frequency, references and negations are associated with each annotation. Several large-scale projects worldwide utilize the HPO for describing phenotype information in their datasets. We have therefore generated equivalence mappings to other phenotype vocabularies such as LDDB, Orphanet, MedDRA, UMLS and phenoDB, allowing integration of existing datasets and interoperability with multiple biomedical resources. We have created various ways to access the HPO database content using flat files, a MySQL database, and Web-based tools. All data and documentation on the HPO project can be found online.
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- 2014
6. Syndrome of hajdu-cheney: three case reports of orofacial interest.
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Vingerhoedt, E., Bailleul-Forestier, I., Fellus, P., Schoenaers, J., Fryns, J.P., Carels, C.E.L., Vingerhoedt, E., Bailleul-Forestier, I., Fellus, P., Schoenaers, J., Fryns, J.P., and Carels, C.E.L.
- Abstract
1 november 2010, Contains fulltext : 89089.pdf (publisher's version ) (Closed access), Hajdu-Cheney syndrome is a rare, probably autosomal dominant connective tissue disorder with a variable expressivity. It is characterized by an osteoporotic skeleton, acro-osteolysis, a proportionate short stature, and distinctive orofacial anomalies. The aim of this article is to focus on the orofacial manifestations in two sporadic cases and one familial case with Hajdu-Cheney syndrome. Several common dental and craniofacial features are described. In contrast to earlier proposed diagnostic features, these patients show persisting deciduous teeth, problematic tooth eruption, and tendency toward a Class III malocclusion.
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- 2010
7. Syndrome of Hajdu-Cheney: Three Case Reports of Orofacial Interest
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Vingerhoedt, E., primary, Bailleul-Forestier, I., additional, Fellus, P., additional, Schoenaers, J., additional, Frijns, J.-P., additional, and Carels, C., additional
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- 2010
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8. Les anomalies de l’éruption dentaire
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Vaysse, F., primary, Noirrit, E., additional, Bailleul-Forestier, I., additional, Bah, A., additional, and Bandon, D., additional
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- 2010
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9. Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia
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Swinnen, S, primary, Bailleul‐Forestier, I, additional, Arte, S, additional, Nieminen, P, additional, Devriendt, K, additional, and Carels, C, additional
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- 2008
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10. Dental alveolar bone defects related to Vitamin D and calcium status
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Davideau, J.L., primary, Lezot, F., additional, Kato, S., additional, Bailleul-Forestier, I., additional, and Berdal, A., additional
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- 2004
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11. Immunolocalization of Vitamin D Receptor and Calbindin-D28k in Human Tooth Germ
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Bailleul-Forestier, I, primary, Davideau, J L, additional, Papagerakis, P, additional, Noble, I, additional, Nessmann, C, additional, Peuchmaur, M, additional, and Berdal, A, additional
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- 1996
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12. Generalized periodontitis associated with Chédiak-Higashi syndrome.
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Bailleul-Forestier I, Monod-Broca J, Benkerrou M, Mora F, and Picard B
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- 2008
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13. The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients.
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BAILLEUL-FORESTIER I, VERHAEGHE V, FRYNS J, VINCKIER F, DECLERCK D, and VOGELS A
- Abstract
BACKGROUND: Prader-Willi syndrome (PWS) is a rare disorder caused by genetic defects in certain regions of chromosome 15q11-13. It is characterized by severe neonatal hypotonia and feeding problems, childhood-onset hyperphagia and obesity, short stature, facial dysmorphy, hypogonadism, learning and behavioural difficulties, and dental abnormalities. AIM: To describe the oro-dental phenotypic spectrum of patients with PWS. DESIGN: Fifteen PWS patients (3-35 years of age) being followed at the Centre for Human Genetics of the University Hospital of Leuven were examined at the dental clinic of the same institution. Medical information collected included age at diagnosis, body mass index (BMI) and level of cognitive functioning. Oral, clinical and radiological evaluations were performed. Caries experience (cavitation level), dental erosion and salivary flow rates were assessed. RESULTS: The 15 patients had dmft/DMFT scores ranging from 0 to 28, while nine were cavity-free. Those with severe caries experience also presented advanced dental erosion. BMI ranged from 16 to 42.6. There was no association between BMI and caries experience or erosive tooth wear. The PWS patients in our survey presented with a more favourable oral health status than those in previous studies. This might be due to early diet management or better oral hygiene during childhood or both. [ABSTRACT FROM AUTHOR]
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- 2008
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14. Caries experience in a severely obese adolescent population.
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Bailleul-Forestier I, Lopes K, Souames M, Azoguy-Levy S, Frelut ML, and Boy-Lefevre ML
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- 2007
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15. Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.
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Plaisancié J, Chesneau B, Fares-Taie L, Rozet JM, Pechmeja J, Noero J, Gaston V, Bailleul-Forestier I, Calvas P, and Chassaing N
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- Humans, Transcription Factors genetics, Anterior Eye Segment abnormalities, Alleles, Forkhead Transcription Factors genetics, Mutation, Microphthalmos genetics, Eye Abnormalities genetics
- Abstract
Ocular malformations (OMs) arise from early defects during embryonic eye development. Despite the identification of over 100 genes linked to this heterogeneous group of disorders, the genetic cause remains unknown for half of the individuals following Whole-Exome Sequencing. Diagnosis procedures are further hampered by the difficulty of studying samples from clinically relevant tissue, which is one of the main obstacles in OMs. Whole-Genome Sequencing (WGS) to screen for non-coding regions and structural variants may unveil new diagnoses for OM individuals. In this study, we report a patient exhibiting a syndromic OM with a de novo 3.15 Mb inversion in the 6p25 region identified by WGS. This balanced structural variant was located 100 kb away from the FOXC1 gene, previously associated with ocular defects in the literature. We hypothesized that the inversion disrupts the topologically associating domain of FOXC1 and impairs the expression of the gene. Using a new type of samples to study transcripts, we were able to show that the patient presented monoallelic expression of FOXC1 in conjunctival cells, consistent with the abolition of the expression of the inverted allele. This report underscores the importance of investigating structural variants, even in non-coding regions, in individuals affected by ocular malformations.
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- 2024
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16. Association between malocclusions and amelogenesis imperfecta genotype and phenotype: A systematic review.
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Broutin A, K Bidi-Lebihan A, Canceill T, Vaysse F, Bloch-Zupan A, Bailleul-Forestier I, and Noirrit-Esclassan E
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- Humans, Genotype, Phenotype, Dental Enamel, Proteins genetics, Amelogenesis Imperfecta genetics, Amelogenesis Imperfecta complications, Amelogenesis Imperfecta diagnosis, Malocclusion complications, Open Bite
- Abstract
Introduction: The aim of this systematic review (Prospero CRD42022323188) is to investigate whether an association exists in patients with amelogenesis imperfecta (AI) between occlusal characteristics and genotype on the one hand and enamel structural phenotype on the other., Material and Methods: Reports up to May 2023 assessing occlusion of individuals with AI were browsed in a systematic search using Medline, Embase, ISI Web of Science, and the grey literature. Randomised control trials, case control studies, and case series specifying both occlusion, assessed by cephalometric or clinical analysis, and genotype or dental phenotype in patients with AI were included without any age limitation. Two authors independently selected the publications and extracted the data in accordance with the PRISMA statement. The risk of bias was assessed with the Critical Appraisal Checklists from the Johanna Briggs Institute., Results: Twenty-five articles were chosen from the 261 results. Most of the included publications were case series (n=22) and case control studies (n=3). Thirteen studies reported both a genotype (ENAM, FAM83H, FAM20A, DLX3, CNMM4, WDR72) and occlusal diagnostic. The methodological quality of the studies was moderate. All AI phenotypes showed an open bite (OB) rate around 35%, except mixed form. The other malocclusions were not often mentioned. No correlation between occlusal phenotype and genotype or AI phenotype could be identified in patients with AI, as most studies had short occlusal descriptions and small sample sizes., Conclusion: OB malocclusions were more frequently reported in AI. This review highlighted the need for a more accurate description of orofacial features associated with AI, to better clarify the role of amelogenesis genes in the regulation of craniofacial morphogenesis and identify patients requiring orthognathic surgery at an early stage., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)
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- 2023
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17. Oral health status in patients with inherited epidermolysis bullosa: a comparative multicenter study.
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Joseph C, Marty M, Dridi SM, Verhaeghe V, Bailleul-Forestier I, Chiaverini C, Hubiche T, Mazereeuw-Hautier J, Deny O, Declerck D, and Kémoun P
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- Humans, Child, Quality of Life, Dentists, Professional Role, Blister, Oral Health, Epidermolysis Bullosa complications, Epidermolysis Bullosa epidemiology, Epidermolysis Bullosa genetics
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Objective: Epidermolysis bullosa (EB) is a rare genetic mucocutaneous disorder characterized by epithelial fragility leading to blister formation on skin and mucous membranes with even minor mechanical trauma. Most EB oral health publications give fragmented information, focusing on only one oral health aspect or one EB type. The aim of this study was to expand the knowledge of the overall oral health status of individuals with dystrophic, junctional, and simplex EB., Method and Materials: A comparative multicenter study, including a control group, and based on questionnaires and clinical examinations, was undertaken in three EB expert centers., Results: Most EB (90.2%) participants brushed their teeth at least once a day despite the pain. The prevalence of enamel defects and caries experience did not differ between the 42 EB participants and the 42 age-/sex-matched healthy controls. Gingival inflammation unrelated to dental plaque accumulation was found in EB participants. Blisters, erythema, and erosion/ulceration mainly involved gingiva, buccal mucosa, lips, and palate, with different topographic patterns according to EB type. EB patients whatever the age showed a similar lesion distribution. Simplex and dystrophic EB patients under 12 years old displayed higher lesion severity than junctional EB ones. Only dystrophic type exhibited microstomia and ankyloglossia., Conclusion: Oral health status seemed to benefit from a close collaboration between dental practitioner and dermatologist, and from regular dental examination, starting at a young age and with a focus on prevention. The new appreciation of oral health involvement highlighted by this study is essential for EB patients care, regarding comorbidities and quality of life.
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- 2023
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18. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
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Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gómez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Pérez VL, Devriendt K, Pasquier L, and Pérez-Jurado LA
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- Humans, Scalp abnormalities, Scalp metabolism, HEK293 Cells, Transcription Factor AP-1 genetics, Exons genetics, RNA, Messenger, Fos-Related Antigen-2 genetics, Autism Spectrum Disorder genetics, Ectodermal Dysplasia genetics, Neurodevelopmental Disorders genetics
- Abstract
Purpose: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex., Methods: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction. In vitro coimmunoprecipitation and proteasome inhibition assays in transfected HEK293 cells were performed to explore protein and AP-1 complex stability., Results: We identified 11 individuals from 10 families with mostly de novo truncating FOSL2 variants sharing a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts. Mutant FOSL2 messenger RNAs escaped nonsense-mediated messenger RNA decay. Truncated FOSL2 interacts with c-JUN, thus mutated AP-1 complexes could be formed., Conclusion: Truncating variants in the last exon of FOSL2 associate a distinct clinical phenotype by altering the regulatory degradation of the AP-1 complex. These findings reveal a new role for FOSL2 in human pathology., Competing Interests: Conflict of Interest L.A.P.-J. is founding partner and scientific advisor of qGenomics Laboratories. All other authors declare no conflicts of interest., (Copyright © 2022 American College of Medical Genetics and Genomics. All rights reserved.)
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- 2022
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19. Oral status in patients with inherited epidermolysis bullosa: A multicentric observational study.
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Chiaverini C, Marty M, Dridi SM, Campana SC, Canceill T, Bailleul-Forestier I, Verhaeghe V, Declerck D, Hubiche T, Kémoun P, Mazereeuw-Hautier J, and Joseph C
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- Humans, Epidermolysis Bullosa complications, Epidermolysis Bullosa genetics, Epidermolysis Bullosa Dystrophica
- Abstract
Competing Interests: Conflicts of interest None disclosed.
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- 2022
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20. From Child to Adulthood, a Multidisciplinary Approach of Multiple Microdontia Associated with Hypodontia: Case Report Relating a 15 Year-Long Management and Follow-Up.
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Thomas C, Vaysse F, Courset T, Nasr K, Courtois B, L'Homme A, Chassaing N, Vinel A, Bailleul-Forestier I, Raynaldy L, and Laurencin-Dalicieux S
- Abstract
Oral rehabilitation of patients presenting multiple microdontia is a real therapeutic challenge. These alterations in size, often associated with other dental anomalies, have aesthetic and functional repercussions for patients and can lead to significant psycho-social consequences. We report here the case of an 11-year-old patient with bilateral sectorial microdontia and agenesis of teeth numbers 13 and 23. She also presented staturo-ponderal delay and a history of acute coronary syndrome with a lower coronary occlusion of unknown aetiology. At first, additive coronoplasties and an orthodontically retained interim prosthesis answered the aesthetic and functional need during childhood and adolescence. Once she reached adulthood, a multidisciplinary meeting was conducted and a treatment plan was established. The decision was made to rehabilitate the upper arch with a permanent bridge and the lower arch with indirect adhesive restorations. This solution solved the problem of the bilateral lateral infraocclusions and tooth agenesis, restoring both aesthetics and function. This paper presents 15 years of management and treatment of a patient presenting multiple microdontia associated with hypodontia. Both the multidisciplinary approach and coordination between the different medical team members was essential to maintain the existing dentition while preparing, planning, and carrying out a personalized treatment plan once maxillofacial growth was complete.
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- 2021
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21. Dentine disorders and adhesive treatments: A systematic review.
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Massé L, Etienne O, Noirrit-Esclassan E, Bailleul-Forestier I, and Garot E
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- Dental Cements, Dental Enamel, Hardness, Dentin, Tooth
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Objectives: A better understanding of the microstructure and mechanical properties of enamel and dentine may enable practitioners to apply the current adhesive dentistry protocols to clinical cases involving dentine disorders (dentinogenesis imperfecta or dentine dysplasia)., Data/sources: Publications (up to June 2020) investigating the microstructure of dentine disorders were browsed in a systematic search using the PubMed/Medline, Embase and Cochrane Library electronic databases. Two authors independently selected the studies, extracted the data in accordance with the PRISMA statement, and assessed the risk of bias with the Critical Appraisal Checklist. A Mann-Whitney U test was computed to compare tissues damage related to the two dentine disorders of interest., Study Selection: From an initial total of 642 studies, only 37 (n = 164 teeth) were included in the present analysis, among which 18 investigating enamel (n = 70 teeth), 15 the dentine-enamel junction (n = 62 teeth), and 35 dentine (n = 156 teeth). Dentine is damaged in cases of dentinogenesis imperfecta and osteogenesis imperfecta (p = 2.55E-21 and p = 3.99E-21, respectively). These studies highlight a reduction in mineral density, hardness, modulus of elasticity and abnormal microstructure in dentine disorders. The majority of studies report an altered dentine-enamel junction in dentinogenesis imperfecta and in osteogenesis imperfecta (p = 6.26E-09 and p = 0.001, respectively). Interestingly, enamel is also affected in cases of dentinogenesis imperfecta (p = 0.0013), unlike to osteogenesis imperfecta (p = 0.056)., Conclusions: Taking into account all these observations, only a few clinical principles may be favoured in the case of adhesive cementation: (i) to preserve the residual enamel to enhance bonding, (ii) to sandblast the tooth surfaces to increase roughness, (iii) to choose a universal adhesive and reinforce enamel and dentine by means of infiltrant resins. As these recommendations are mostly based on in vitro studies, future in vivo studies should be conducted to confirm these hypotheses., (Copyright © 2021 Elsevier Ltd. All rights reserved.)
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- 2021
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22. Morbidity and Mortality Review in a University Dental Hospital: A Necessary Tool to Improve Quality of Care.
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Esclassan R, Valera MC, Bergia JM, Canceill T, Mendes LC, Bailleul-Forestier I, Gardette V, Vaysse F, Gurgel-Georgelin M, and Noirrit E
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Objective: The study aimed to describe and to analyze the first morbidity and mortality review (MMRs) set up within a Dental University Hospital using detailed case reports to highlight the benefits of MMRs for patients, practitioners, teachers and to implement appropriate protocols to prevent recurrence., Materials and Methods: The MMRs were performed within the dentistry departments of the hospital over the 1-year study period. Each case was reviewed according to a protocol based on a tool defined by the Clinical Risk Unit and the Association of Litigation and Risk Management (ALARM)., Results: Four cases were selected based on an oral report by a doctor from the dental service, a downstream service, or by the attending physician. The first case report related to a patient who suffered a breathing shock. The second concerned a tooth inhalation by a young disabled boy. The third was a therapeutic failure instigated by a student during a tooth preparation, and the fourth case involved an unexpected face-to-face meeting between a prisoner accompanied by police guards and an ancient victim at the dental hospital., Discussion: Clinical incidents were investigated with the ALARM protocol. This process is also less focused on the individual who makes the error and more on contributing systemic factors. The systematic analysis of cases associated with bibliographic reviews improves learning and performance outcomes. Clear answers were given in response to the problems raised during these MMRs., Conclusion: In dental hospitals, the culture of MMRs needs to be integrated into resident training like in medical hospitals., Competing Interests: None declared., (European Journal of Dentistry. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).)
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- 2021
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23. Orofacial manifestations of SAPHO syndrome: a systematic review of case reports.
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Ferreira-Vilaca C, Costa Mendes L, Campana SC, Bailleul-Forestier I, Audouin-Pajot C, Esclassan R, and Canceill T
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- Humans, Male, Mandible, Acquired Hyperostosis Syndrome complications, Acquired Hyperostosis Syndrome diagnosis, Osteitis, Osteomyelitis, Synovitis
- Abstract
SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a poorly known disease with cutaneous and osteo-articular manifestations requiring a multidisciplinary care. The aim of this study was to review the case reports that have described oral manifestations in patients suffering for this syndrome. A systematic review of case reports was performed on PubMed and Science Direct on January 2020 among all the articles dealing with the disease. In vitro, preclinical, and clinical studies have not been included to select only the case reports. Eighteen articles, published between 1999 and 2019, were included. All the patients presented mandibular osteomyelitis or sclerosis, associated with various other symptoms such as trismus, temporomandibular joint arthritis, or dysphagia. The data highlight the high variability in the disease's manifestations between people and also in the treatments applied. Knowing the orofacial signs of the SAPHO syndrome, the dental surgeon has a crucial role in the diagnosis procedure and must take place in the multidisciplinary medical team involved in the patient following. Some care adaptations are needed for oral interventions in these patients, depending on their treatments and their handicap. Key Points • Orofacial manifestations of SAPHO syndrome mainly occur on the mandible. • In cases of mandible sclerosis, decorticalization surgeries may be performed. • Oral care are encouraged, especially the preventive treatments to limit the necessity of surgeries. • The complexity in the management of patients suffering for a SAPHO syndrome concerns the oral manifestations, the patient general health and the treatments he has to take every day.
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- 2020
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24. Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies.
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Marty M, Bonnaud C, Jones N, Longy M, Vaysse F, Bieth E, and Bailleul-Forestier I
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Background: Megalencephaly-capillary malformation (MCAP) is a rare overgrowth syndrome caused by postzygotic activating mutations in the PIK3CA gene., Aim: To illustrate the benefits of gingival biopsy in the genetic diagnosis of overgrowth syndromes., Design: Gingival biopsy was performed on a 13-year-old patient and a 16-year-old patient with MCAP and who suffered from periodontal disease. PIK3CA sequencing was performed on DNA extracted from gingival biopsies, blood, and saliva., Results: Pathogenic p.Glu365Lys and p.Glu545Asp PIK3CA mutations were found in the gingival biopsies with an allelic frequency of 22% and 35%, respectively, while they were undetectable in blood or saliva. The genetic diagnosis of MCAP through detection of PIK3CA somatic mosaicism in a periodontal biopsy is unprecedented., Conclusions: Considering the tissue distribution and level of somatic mosaicism for PIK3CA mutation, the composite embryologic origin of periodontium and its high fibroblast cell content make it an ideal target for molecular analysis in overgrowth syndromes, and multidisciplinary approach including paediatric dentists should be encouraged. In addition, our clinical findings suggest that periodontal disease is part of the MCAP phenotypic spectrum and should be systematically investigated., Competing Interests: None of the authors had conflicts of interest to declare., (Copyright © 2020 Mathieu Marty et al.)
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- 2020
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25. LEF1 haploinsufficiency causes ectodermal dysplasia.
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Lévy J, Capri Y, Rachid M, Dupont C, Vermeesch JR, Devriendt K, Verloes A, Tabet AC, and Bailleul-Forestier I
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- Adult, Animals, Child, Preschool, Ectodermal Dysplasia diagnosis, Ectodermal Dysplasia pathology, Ectodermal Dysplasia 1, Anhidrotic diagnosis, Ectodermal Dysplasia 1, Anhidrotic pathology, Female, Haploinsufficiency genetics, Humans, Male, Mice, NF-kappa B genetics, Signal Transduction genetics, Young Adult, beta Catenin genetics, Ectodermal Dysplasia genetics, Ectodermal Dysplasia 1, Anhidrotic genetics, Lymphoid Enhancer-Binding Factor 1 genetics
- Abstract
Ectodermal dysplasias are a family of genodermatoses commonly associated with variants in the ectodysplasin/NF-κB or the Wnt/β-catenin pathways. Both pathways are involved in signal transduction from ectoderm to mesenchyme during the development of ectoderm-derived structures. Wnt/β-catenin pathway requires the lymphoid enhancer-binding factor 1 (LEF1), a nuclear mediator, to activate target gene expression. In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. We report two unrelated patients with 4q25 de novo deletion encompassing LEF1, associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. Taurodontism and a particular alveolar bone defect were also observed in both patients. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human. We provide further evidence for LEF1 haploinsufficiency role in ectodermal dysplasia and delineate its clinical phenotype., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
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- 2020
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26. Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.
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Gasse B, Prasad M, Delgado S, Huckert M, Kawczynski M, Garret-Bernardin A, Lopez-Cazaux S, Bailleul-Forestier I, Manière MC, Stoetzel C, Bloch-Zupan A, and Sire JY
- Abstract
Amelogenesis imperfecta (AI) designates a group of genetic diseases characterized by a large range of enamel disorders causing important social and health problems. These defects can result from mutations in enamel matrix proteins or protease encoding genes. A range of mutations in the enamel cleavage enzyme matrix metalloproteinase-20 gene ( MMP20 ) produce enamel defects of varying severity. To address how various alterations produce a range of AI phenotypes, we performed a targeted analysis to find MMP20 mutations in French patients diagnosed with non-syndromic AI. Genomic DNA was isolated from saliva and MMP20 exons and exon-intron boundaries sequenced. We identified several homozygous or heterozygous mutations, putatively involved in the AI phenotypes. To validate missense mutations and predict sensitive positions in the MMP20 sequence, we evolutionarily compared 75 sequences extracted from the public databases using the Datamonkey webserver. These sequences were representative of mammalian lineages, covering more than 150 million years of evolution. This analysis allowed us to find 324 sensitive positions (out of the 483 MMP20 residues), pinpoint functionally important domains, and build an evolutionary chart of important conserved MMP20 regions. This is an efficient tool to identify new- and previously-identified mutations. We thus identified six functional MMP20 mutations in unrelated families, finding two novel mutated sites. The genotypes and phenotypes of these six mutations are described and compared. To date, 13 MMP20 mutations causing AI have been reported, making these genotypes and associated hypomature enamel phenotypes the most frequent in AI.
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- 2017
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27. Necrotizing Periodontal Diseases in Children: A Literature Review and Adjustment of Treatment.
- Author
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Marty M, Palmieri J, Noirrit-Esclassan E, Vaysse F, and Bailleul-Forestier I
- Subjects
- Child, Child, Preschool, Gingivitis, Necrotizing Ulcerative diagnosis, Humans, Treatment Outcome, Anti-Infective Agents, Local therapeutic use, Dental Plaque therapy, Dental Scaling, Gingivitis, Necrotizing Ulcerative drug therapy
- Abstract
Necrotizing ulcerative gingivitis, sometimes observed in young children, may lead to necrotizing stomatitis and noma. Therefore, its interception is a necessity and a challenge for the paediatric practitioners. First, this article aims to propose a systematic review of recent literature on the use of local antiseptic and antibiotic prescription in this particular periodontal condition. Then, a protocol is proposed to have a simple, costless and reproducible treatment on children., (© The Author [2016]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
- Published
- 2016
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28. Recurrent Aphthous Stomatitis As a Marker of Celiac Disease in Children.
- Author
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Marty M, Bailleul-Forestier I, and Vaysse F
- Subjects
- Female, Humans, Male, Stomatitis, Aphthous epidemiology, Stomatitis, Aphthous pathology
- Published
- 2016
- Full Text
- View/download PDF
29. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
- Author
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Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, and Bloch-Zupan A
- Subjects
- Amelogenesis Imperfecta genetics, Autoantigens genetics, Chromosome Deletion, Chromosome Disorders genetics, Chromosomes, Human, Pair 11 genetics, Cohort Studies, Coloboma genetics, Dentin Dysplasia genetics, France, Hearing Loss, Sensorineural genetics, Humans, Non-Fibrillar Collagens genetics, Reproducibility of Results, Collagen Type XVII, High-Throughput Nucleotide Sequencing methods, Mutation, Tooth Abnormalities genetics
- Abstract
Background: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders., Methods: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption., Results: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases., Conclusions: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease., Trial Registration Numbers: NCT01746121 and NCT02397824., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)
- Published
- 2016
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30. Direct Microscopy: A Useful Tool to Diagnose Oral Candidiasis in Children and Adolescents.
- Author
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Marty M, Bourrat E, Vaysse F, Bonner M, and Bailleul-Forestier I
- Subjects
- Adolescent, Child, Child, Preschool, Humans, Candidiasis, Oral diagnosis, Microscopy methods
- Abstract
Introduction: Oral candidiasis is one of the most common opportunistic fungal infections of the oral cavity in human. Among children, this condition represents one of the most frequent affecting the mucosa. Although most diagnoses are made based on clinical signs and features, a microbiological analysis is sometimes necessary. We performed a literature review on the diagnosis of oral candidiasis to identify the techniques most commonly employed in routine clinical practice., Materials and Methods: A Medline-PubMed search covering the last 10 years was performed., Results: Microbiological techniques were used in cases requiring confirmation of the clinical diagnosis. In such cases, direct microscopy was the method most commonly used for diagnosing candidiasis., Conclusion: Direct microscopy appears as the method of choice for confirming clinical diagnosis and could become a routine chair-side technique.
- Published
- 2015
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31. Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.
- Author
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Poelmans S, Kawamoto T, Cristofoli F, Politis C, Vermeesch J, Bailleul-Forestier I, Hens G, Devriendt K, Verdonck A, and Carels C
- Subjects
- Adolescent, Anodontia metabolism, Anodontia pathology, Child, Comparative Genomic Hybridization, DNA Copy Number Variations, Eye Proteins genetics, Eye Proteins metabolism, Female, Genotype, Hedgehog Proteins deficiency, Hedgehog Proteins genetics, Holoprosencephaly, Homeodomain Proteins genetics, Homeodomain Proteins metabolism, Humans, Incisor metabolism, Incisor pathology, Male, Maxilla abnormalities, Maxilla metabolism, Mutation, Nerve Tissue Proteins genetics, Nerve Tissue Proteins metabolism, Phenotype, Repressor Proteins deficiency, Repressor Proteins genetics, Young Adult, Homeobox Protein SIX3, Anodontia genetics, Chromosome Deletion, Chromosomes, Human, Pair 18, Chromosomes, Human, Pair 7, Genetic Association Studies, Genetic Heterogeneity, Incisor abnormalities
- Abstract
Solitary Median Maxillary Central Incisor occurs in 1 of 50,000 live births. It is the mildest manifestation of the holoprosencephaly spectrum and is genetically heterogeneous. Here we report six patients with solitary median maxillary central incisor, and a range of other phenotypic anomalies with different degrees of severity, varying from mild signs of holoprosencephaly to associated intellectual disability, and with different genetic background. Using array comparative genomic hybridization, pathogenic copy number variants were found in three of the six patients. Two patients had a deletion at the 18p11 chromosomal region that includes TGIF1 while the other patient had a deletion at 7q36, including the SHH gene. In one patient, a mutation in SIX3 was detected with exome sequencing, while in the two remaining patients all known holoprosencephaly genes were excluded using multiplex ligation-dependent probe amplification and sequencing, and remain unsolved. One of the two latter patients had isolated solitary median maxillary central incisor without other visible dentofacial anomalies, while the other had clinical features not part of the known holoprosencephaly spectrum., (© 2015 Wiley Periodicals, Inc.)
- Published
- 2015
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32. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
- Author
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Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert JL, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette MC, Mcleod R, Antequera R, Gellé MP, Coeuriot JL, Jacquelin LF, Bailleul-Forestier I, Manière MC, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, and Bloch-Zupan A
- Subjects
- Adolescent, Amelogenesis Imperfecta diagnostic imaging, Animals, Base Sequence, Child, Consanguinity, DNA Mutational Analysis, Female, Frameshift Mutation, Genetic Association Studies, Humans, Male, Mice, Mice, Inbred C57BL, Mice, Knockout, Mutation, Missense, Osteochondrodysplasias diagnostic imaging, Pedigree, Radiography, Sequence Deletion, Amelogenesis Imperfecta genetics, Latent TGF-beta Binding Proteins genetics, Osteochondrodysplasias genetics
- Abstract
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. This phenotype was first described in 1996 by Verloes et al. as an autosomal recessive form of brachyolmia associated with AI. Whole-exome sequencing resulted in the identification of recessive hypomorphic mutations including deletion, nonsense and splice mutations, in the LTBP3 gene, which is involved in the TGF-beta signaling pathway. We further investigated gene expression during mouse development and tooth formation. Differentiated ameloblasts synthesizing enamel matrix proteins and odontoblasts expressed the gene. Study of an available knockout mouse model showed that the mutant mice displayed very thin to absent enamel in both incisors and molars, hereby recapitulating the AI phenotype in the human disorder., (© The Author 2015. Published by Oxford University Press.)
- Published
- 2015
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33. Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst.
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Valéra MC, Vaysse F, Bieth E, Longy M, Cances C, and Bailleul-Forestier I
- Subjects
- Child, Female, Humans, Mutation, Missense, Periodontal Cyst genetics, Proteus Syndrome genetics, Radiography, Tooth Abnormalities diagnostic imaging, Tooth Abnormalities genetics, Periodontal Cyst diagnostic imaging, Proteus Syndrome diagnostic imaging, Proto-Oncogene Proteins c-akt genetics
- Abstract
Proteus syndrome (PS) is a sporadic and rare congenital disorder characterized by a patchy or mosaic postnatal overgrowth, sometimes involving the face. The onset of overgrowth typically occurs in infancy and can commonly involve skin, connective tissue, central nervous system, eyes and viscera. The progressive overgrowth causes severe complications, such as skeletal deformities, cystic lung disease, invasive lipomas, connective tissue hyperplasia, benign and malignant tumours and deep venous thrombosis with pulmonary embolism, which can cause premature death. This disorder is caused by somatic mosaicism for a specific activating AKT1 mutation that would be lethal in a non-mosaic state. In this report, current knowledge of the aetiology, the diagnosis and the craniofacial manifestations of the disorder are reviewed. The short-term management of a 7-year-old patient with unusual oral manifestations is described. For the first time mutation of AKT1 (c.49G > A) gene was detected both in cranial exostosis and in central odontogenic fibroma of the lower jaw., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)
- Published
- 2015
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34. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
- Author
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Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, and Robinson PN
- Subjects
- Animals, Genetic Diseases, Inborn diagnosis, Genomics, Humans, Internet, Mice, Biological Ontologies, Databases, Factual, Genetic Diseases, Inborn genetics, Phenotype
- Abstract
The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes using terms from ontologies for anatomy, cell types, function, embryology, pathology and other domains. This allows interoperability with several resources, especially those containing phenotype information on model organisms such as mouse and zebrafish. Here we describe the updated HPO database, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO. Various meta-attributes such as frequency, references and negations are associated with each annotation. Several large-scale projects worldwide utilize the HPO for describing phenotype information in their datasets. We have therefore generated equivalence mappings to other phenotype vocabularies such as LDDB, Orphanet, MedDRA, UMLS and phenoDB, allowing integration of existing datasets and interoperability with multiple biomedical resources. We have created various ways to access the HPO database content using flat files, a MySQL database, and Web-based tools. All data and documentation on the HPO project can be found online.
- Published
- 2014
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35. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
- Author
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Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, and Chassaing N
- Subjects
- Amino Acid Sequence, Anodontia complications, Ectodermal Dysplasia complications, Edar Receptor genetics, Female, Genetic Association Studies, Genotype, Humans, Male, Molecular Sequence Data, Phenotype, Sequence Alignment, Anodontia genetics, Ectodermal Dysplasia genetics, Mutation, Wnt Proteins genetics
- Abstract
Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal derivatives. Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of patients with the hypohidrotic form. Autosomal dominant and autosomal recessive forms are occasionally seen, and result from mutations in at least three genes (WNT10A, EDAR, or more rarely EDARADD). We have screened for mutations in EDAR (commonly involved in the hypohidrotic form) and WNT10A (involved in a wide spectrum of ED and in isolated hypodontia) in a cohort of 36 patients referred for EDA molecular screening, which failed to identify any mutation. We identified eight EDAR mutations in five patients (two with homozygous mutations, one with compound heterozygous mutations, and two with heterozygous mutation), four of which were novel variants. We identified 28 WNT10A mutations in 16 patients (5 with homozygous mutations, 7 with compound heterozygous mutations, and 4 with heterozygous mutations), seven of which were novel variants. Our study allows a more precise definition of the phenotypic spectrum associated with EDAR and WNT10A mutations and underlines the importance of the implication of WNT10A among patients with ED., (Copyright © 2013 Wiley Periodicals, Inc.)
- Published
- 2013
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36. Oral manifestations of patients with Kenny-Caffey Syndrome.
- Author
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Moussaid Y, Griffiths D, Richard B, Dieux A, Lemerrer M, Léger J, Lacombe D, and Bailleul-Forestier I
- Subjects
- Foot Deformities, Congenital diagnostic imaging, Foot Deformities, Congenital genetics, Humans, Phenotype, Radiography, Abnormalities, Multiple diagnostic imaging, Abnormalities, Multiple genetics, Dwarfism diagnostic imaging, Dwarfism genetics, Hyperostosis, Cortical, Congenital diagnostic imaging, Hyperostosis, Cortical, Congenital genetics, Hypocalcemia diagnostic imaging, Hypocalcemia genetics, Tooth Abnormalities diagnostic imaging, Tooth Abnormalities genetics
- Abstract
Kenny-Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data. In this article 5 new individuals with KCS, are described focusing on oral findings. All cases had short roots and showed dental anomalies as hypo/oligodontia, microdontia. Dental anomalies are a constant feature in KCS, further study is required to better delineate the syndrome., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)
- Published
- 2012
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37. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
- Author
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Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, and Kleta R
- Subjects
- Adolescent, Adult, Amelogenesis Imperfecta complications, Amelogenesis Imperfecta pathology, Child, Consanguinity, Exome genetics, Family Health, Female, Genes, Recessive genetics, Genome-Wide Association Study, Humans, Male, Middle Aged, Nephrocalcinosis complications, Nephrocalcinosis pathology, Pedigree, Sequence Analysis, DNA methods, Syndrome, Young Adult, Amelogenesis Imperfecta genetics, Dental Enamel Proteins genetics, Genetic Predisposition to Disease genetics, Mutation, Nephrocalcinosis genetics
- Abstract
Background/aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood., Methods: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing., Results: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified., Conclusions: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis., (Copyright © 2013 S. Karger AG, Basel.)
- Published
- 2012
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38. Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.
- Author
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Bailleul-Forestier I, Gros C, Zenaty D, Bennaceur S, Leger J, and de Roux N
- Subjects
- Adenine, Adolescent, Adult, Anodontia genetics, Arginine genetics, Bicuspid abnormalities, Child, Preschool, Cleft Palate genetics, Cysteine genetics, Cytosine, Female, Glutamine genetics, Glycine genetics, Guanine, Humans, Incisor abnormalities, Male, Middle Aged, Molar abnormalities, Sequence Deletion genetics, Tooth Root abnormalities, Tooth, Deciduous abnormalities, Tryptophan genetics, Young Adult, Kallmann Syndrome genetics, Mutation genetics, Receptor, Fibroblast Growth Factor, Type 1 genetics, Tooth Abnormalities genetics
- Abstract
Background: Kallmann syndrome (KS) is a rare genetic disorder characterised by central hypogonadism with a lack of sense of smell and in some cases renal aplasia, deafness, syndactyly, cleft lip/palate, and dental agenesis. To date, five genes for KS have been identified: KAL1, located on the X chromosome, and FGFR1, PROKR2, PROK2 and FGF8, which are involved in autosomally transmitted forms of KS., Aim: The study characterised the dental ageneses of individuals with KS associated with mutations in the FGFR1 gene., Design: Six individuals displaying dental agenesis were included. Clinical and radiological dental evaluations as well as medical anamneses were carried out., Results: Microdontia, screwdriver-shaped mandibular incisors, thin molar roots, and patterns of dental agenesis in both dentitions were observed. One to nine teeth were missing, most frequently, in descending order, lateral mandibular incisors, second premolars of upper and lower jaws, and lateral maxillary incisors. The pattern of dental agenesis is associated with four new mutations in the FGFR1 gene., Conclusion: Dental agenesis may be a clinical feature of Kallmann syndrome caused by a mutation in the FGFR1 gene. These findings highlight the role that odontologists can play in the early diagnosis and treatment of gonadotropic deficiency.
- Published
- 2010
- Full Text
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39. [Eruption and teething complications].
- Author
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Vaysse F, Noirrit E, Bailleul-Forestier I, Bah A, and Bandon D
- Subjects
- Child, Child, Preschool, Humans, Infant, Infant, Newborn, Natal Teeth, Tooth Abnormalities diagnosis, Tooth Diseases diagnosis, Tooth Eruption, Tooth Eruption, Ectopic diagnosis
- Published
- 2010
- Full Text
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40. Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.
- Author
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Rifai L, Port-Lis M, Tabet AC, Bailleul-Forestier I, Benzacken B, Drunat S, Kuzbari S, Passemard S, Verloes A, and Aboura A
- Subjects
- Chromosome Banding, Female, Humans, Infant, Newborn, Chromosomes, Human, Pair 2, Ectodermal Dysplasia genetics, Gene Deletion, Intellectual Disability genetics
- Abstract
We report on a patient with an interstitial deletion of the long arm of chromosome 2 at 2q31.2q33.2. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectodermal anomalies. She showed thin, atrophic skin, sparse, brittle, slowly growing hair, oligodontia with abnormally shaped teeth, normal sweating, and normal fingernails, consistent with a diagnosis of ectodermal dysplasia. Array CGH analysis (Agilent 44K) showed the deletion to span 26 Mb, between cytogenetic bands 2q31.2 and 2q33. The deletion leads to hemizygosity for the HOXD cluster and its regulatory elements, COL3A1/COL5A2, GTF3C3, CASP8, CASP10, and SABT2 could perhaps interfere with long range control of DLX1 and DLX2 expression. This girl confirms the existence of a clinically recognizable 2q32 microdeletion syndrome, as recently delineated by Van Buggenhout et al. and confirms a novel putative locus for ectodermal dysplasia on chromosome 2q31q33. We recommend considering cytogenetic and/or molecular screening for del(2q32) in patients with developmental disability and ectodermal dysplasia-like phenotype, including thin skin, oligodontia, dysplastic teeth, and sparse hair.
- Published
- 2010
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41. [Orthodontic treatment of children suffering from attention deficit disorder with hyperactivity (ADHD)].
- Author
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Pessah S, Montluc N, Bailleul-Forestier I, and Decosse MH
- Subjects
- Adolescent, Case-Control Studies, Child, Child Behavior, Dental Caries complications, Female, Humans, Male, Malocclusion complications, Oral Hygiene, Patient Acceptance of Health Care, Patient Care Team, Risk Factors, Surveys and Questionnaires, Tooth Injuries etiology, Attention Deficit Disorder with Hyperactivity complications, Attention Deficit Disorder with Hyperactivity therapy, Dental Care for Children, Orthodontics, Corrective
- Abstract
Successful orthodontic treatment requires the child's cooperation. Yet how can this be achieved when this cooperation is compromised by a neurobehavioural disorder: the attention deficit hyperactivity disorder (ADHD)? This disorder, slightly tracked down, common in children, leads to hyperactivity, impulsiveness and a short attention span. The objective of this survey is to compare the challenges of conducting orthodontic treatment on children who have or have not been diagnosed and treated by a multi-disciplinary medical team. The data of this survey was collected from orthodontists in Paris and Strasbourg, and from graduate orthodontics students. The orthodontic treatment of 30 children (25 males and 5 females) between 8 and 15 years, affected by ADHD (half have been diagnosed and treated by a multi-disciplinary team) are compared to 30 control subjects. The results highlight the therapeutic difficulties (with behavior, attention span, cooperation, hygiene and dental trauma) encountered with children affected by ADHD (especially those who did not benefit from multidisciplinary follow up) compared to control population. In conclusion, hyperactive children present more challenges during an orthodontic treatment compared to a control population. Nevertheless, the treatment is easier when children are diagnosed and treated multimodally. Further studies are required on a wider population to confirm the differences in therapeutic difficulties.
- Published
- 2009
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42. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
- Author
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Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, and Verloes A
- Subjects
- Abnormalities, Multiple diagnosis, Amelogenesis Imperfecta genetics, Anodontia genetics, Dental Enamel abnormalities, Dentinogenesis Imperfecta genetics, Ectodermal Dysplasia genetics, Humans, Osteogenesis Imperfecta genetics, Phenotype, Syndrome, Tooth physiology, Tooth Abnormalities diagnosis, Abnormalities, Multiple genetics, Tooth Abnormalities genetics, Tooth Abnormalities pathology
- Abstract
Teeth are specialized structural components of the craniofacial skeleton. Developmental defects occur either alone or in combination with other birth defects. In this paper, we review the dental anomalies in several multiple congenital anomaly (MCA) syndromes, in which the dental component is pivotal in the recognition of the phenotype and/or the molecular basis of the disorder is known. We will consider successively syndromic forms of amelogenesis imperfecta or enamel defects, dentinogenesis imperfecta (i.e. osteogenesis imperfecta) and other dentine anomalies. Focusing on dental aspects, we will review a selection of MCA syndromes associated with teeth number and/or shape anomalies. A better knowledge of the dental phenotype may contribute to an earlier diagnosis of some MCA syndromes involving teeth anomalies. They may serve as a diagnostic indicator or help confirm a syndrome diagnosis.
- Published
- 2008
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43. The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.
- Author
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Bailleul-Forestier I, Molla M, Verloes A, and Berdal A
- Subjects
- Amelogenesis Imperfecta diagnosis, Amelogenesis Imperfecta genetics, Amelogenesis Imperfecta pathology, Animals, Humans, Syndrome, Tooth Abnormalities diagnosis, Tooth Abnormalities genetics, Tooth Abnormalities pathology
- Abstract
The genetic control of dental development represents a complex series of events, which can very schematically be divided in two pathways: specification of type, size and position of each dental organ, and specific processes for the formation of enamel and dentin. Several genes linked with early tooth positioning and development, belong to signalling pathways and have morphogenesis regulatory functions in morphogenesis of other organs where they are associated with the signalling pathways. Their mutations often show pleïotropic effects beyond dental morphogenesis resulting in syndromic developmental disorders. Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (cleft palate, colorectal cancer). By contrast, genes involved in enamel (AMELX, ENAM, MMP20, and KLK4) and dentin (DSPP) structures are highly specific for tooth. Mutations in these genes have been identified as causes of amelogenesis imperfecta, dentinogenesis imperfecta, dentin dysplasias and anomalies of teeth number (hypo-, oligo and anodontia), which only partially overlap with the classical phenotypic classifications of dental disorders. This review of genetic basis of inherited anomalies describes, in this first paper, the molecular bases and clinical features of inherited non-syndromic teeth disorders. And in a second part, the review focus on genetic syndromes with dental involvement.
- Published
- 2008
- Full Text
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44. Mesiodens.
- Author
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Van Buggenhout G and Bailleul-Forestier I
- Subjects
- Humans, Tooth, Supernumerary diagnosis, Tooth, Supernumerary epidemiology, Tooth, Supernumerary surgery
- Abstract
The presence of an extra supernumerary tooth in the central position of the upper or lower jaw is called mesiodens. These teeth can be present as part of a syndrome or can be found as an isolated finding. Mesiodens is the most frequently found extra tooth, with a prevalence in the general population of 0.15-1.9%, and with a higher frequency in males than females. Usually the shape is conical and mesiodens is smaller than the neighbour incisor. Several hypotheses have been suggested for the formation of supernumerary teeth. Early diagnosis and treatment are needed to support right dental occlusion.
- Published
- 2008
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45. High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.
- Author
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Guilmin-Crépon S, Garel C, Baumann C, Brémond-Gignac D, Bailleul-Forestier I, Magnier S, Castanet M, Czernichow P, VAN DEN Abbeele T, and Léger J
- Subjects
- Abnormalities, Multiple diagnostic imaging, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Nasal Obstruction complications, Pituitary Diseases diagnosis, Risk, Tomography, X-Ray Computed, Abnormalities, Multiple epidemiology, Hypothalamo-Hypophyseal System abnormalities, Nasal Obstruction diagnostic imaging, Pituitary Diseases epidemiology, Pituitary-Adrenal System abnormalities
- Abstract
We aimed to determine the occurrence of pituitary dysfunction and additional malformations in patients with congenital nasal pyriform aperture stenosis (CNPAS) and to predict which patients are at risk of pituitary dysfunction. Among the 40 studied patients, hypothalamo-pituitary (HP) axis abnormalities were found in 16 patients (40%), with endocrine dysfunction (n = 9) and/or abnormal HP MRI findings (n = 15). A normal HP axis on MRI was highly predictive of normal endocrine function. Of the 40 patients, 31 had additional abnormalities in the cranio-facial area (n = 26), the brain (n = 12), the vertebrae (n = 5), the limbs (n = 4), the heart (n = 7) and the kidney (n = 3). Six patients had syndromic associations: VACTERL (n = 4), CHARGE (n = 1) and RHYNS (n = 1) syndromes. Craniofacial and brain malformations were more common in patients with HP axis abnormalities than in patients with normal HP axis. Familial history of midline defects and/or consanguinity were found in 30% of patients. In conclusion, HP axis abnormalities are frequent in patients with CNPAS and justify MRI of the brain early in life and clinical evaluation to screen for patients with pituitary insufficiency. CNPAS may be a genetically heterogeneous condition with a large phenotypic variability that shares common etiological mechanisms with the various forms of the holoprosencephaly phenotype.
- Published
- 2006
- Full Text
- View/download PDF
46. Oligodontia in partial trisomy 9q syndrome.
- Author
-
Bailleul-Forestier I and Fryns JP
- Subjects
- Abnormalities, Multiple genetics, Child, Cleft Palate complications, Cleft Palate genetics, Female, Humans, Microcephaly complications, Microcephaly genetics, Tooth Abnormalities complications, Chromosomes, Human, Pair 9 genetics, Tooth Abnormalities genetics, Trisomy genetics
- Published
- 2006
47. [Influence of systemic disease on oral/dental health in children].
- Author
-
Bailleul-Forestier I
- Subjects
- Child, Chronic Disease, Humans, Mouth Diseases etiology, Tooth Diseases etiology
- Published
- 2003
- Full Text
- View/download PDF
48. Ameloblasts and odontoblasts, target-cells for 1,25-dihydroxyvitamin D3: a review.
- Author
-
Berdal A, Papagerakis P, Hotton D, Bailleul-Forestier I, and Davideau JL
- Subjects
- Ameloblasts drug effects, Animals, Calbindin 1, Calbindins, Humans, Odontoblasts drug effects, Osteocalcin physiology, Receptors, Calcitriol physiology, S100 Calcium Binding Protein G physiology, Tooth drug effects, Ameloblasts physiology, Calcitriol pharmacology, Odontoblasts physiology, Tooth growth & development
- Abstract
The basic features on the vitamin D endocrine system, synthesis of the main metabolite 1,25-dihydroxyvitamin D3 (1,25) and its genomic action mediated via the vitamin D receptor (VDR), are reviewed. Calbindin-D9k, calbindin-D28k and osteocalcin are presented as the most-extensively investigated vitamin D-dependent calcium-binding proteins. The action of 1,25 on the basic process of proliferation and differentiation is introduced. Then, the basis of the systemic theory of vitamin D action on teeth (clinical and experimental data and the dissimilar distribution of VDR and of potential vitamin D-dependent proteins in dental cells) are exposed. Finally, the data obtained with calbindin-D9k, calbindin-D28k, osteocalcin and VDR, which supports the theory that ameloblasts and odontoblasts are target-cells for 1,25 is presented. As a perspective, a cross-survey of the 1,25 and tooth-related literature is proposed which may indicate potential target-genes for 1,25 in teeth as done previously for calbindins-D.
- Published
- 1995
49. [Evaluation of the daily amount of fluoride ingested by children].
- Author
-
Bailleul Forestier I
- Subjects
- Absorption, Adolescent, Child, Child, Preschool, Fluorides pharmacokinetics, Humans, Mouthwashes, Dentifrices, Fluorides administration & dosage, Toothpastes
- Published
- 1989
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