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Article ; Online: Le mot des coordinateurs : La cavité orale et les dents, au cœur de la santé.

Berdal, Ariane / Lescaille, Géraldine / Fricain, Jean-Christophe

2024 Volume 40, Issue 1, Page(s) 9

Title translation	Oral cavity and teeth, at the heart of health.
MeSH term(s)	Humans ; Mouth ; Heart
Language	French
Publishing date	2024-02-01
Publishing country	France
Document type	Journal Article
ZDB-ID	632733-3
ISSN	1958-5381 ; 0767-0974
ISSN (online)	1958-5381
ISSN	0767-0974
DOI	10.1051/medsci/2023188
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Article ; Online: In Situ Hybridization in Mineralized Tissues: The Added Value of LNA Probes for RNA Detection.

Lignon, G / Hotton, D / Berdal, A / Bolaños, A

Methods in molecular biology (Clifton, N.J.)

2019 Volume 1922, Page(s) 181–190

Abstract: In situ hybridization (ISH) is one of the fundamental methods in developmental biology and neurobiology. Their first ISH protocols were reported in 1969 (Gall and Pardue, Proc Natl AcadSci USA 63:378-83, 1969). Since several decades, ISH based on the ... ...

Abstract	In situ hybridization (ISH) is one of the fundamental methods in developmental biology and neurobiology. Their first ISH protocols were reported in 1969 (Gall and Pardue, Proc Natl AcadSci USA 63:378-83, 1969). Since several decades, ISH based on the specific hybridization of 100-2000 nucleotides long probes enabled the localization of DNA/RNA sequences in tissues and cells with high cellular resolution. But sometimes a limited sensitivity notably in mineralized tissues (Obernosterer et al., Nature Protocols 2:1508-14, 2007).Here we describe a recent improvement of in situ hybridization efficiency by applying nucleotide locked nucleic acid (LNA)-incorporated oligodeoxynucleotide probes (20 LNA/DNA nucleotide probes) essentially used for noncoding miRNA and messenger RNAs.
MeSH term(s)	Animals ; DNA Probes ; In Situ Hybridization/methods ; Mice ; MicroRNAs/analysis ; Paraffin Embedding ; RNA, Messenger/analysis ; Tooth/metabolism
Chemical Substances	DNA Probes ; MicroRNAs ; RNA, Messenger
Language	English
Publishing date	2019-03-04
Publishing country	United States
Document type	Journal Article
ISSN	1940-6029
ISSN (online)	1940-6029
DOI	10.1007/978-1-4939-9012-2_18
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Article ; Online: Methods for In Situ Protein Visualization in Dental Mineralized Tissues.

Hotton, D / Berdal, A / Bolaños, A

Methods in molecular biology (Clifton, N.J.)

2019 Volume 1922, Page(s) 173–180

Abstract: Immunohistochemistry (IHC) is a technique based on the specificity of antibody-antigen principle used commonly to detect antigens in tissue sections. The immune labeling can be performed in paraffin sections, cryostat sections, and ultrathin sections and ...

Abstract	Immunohistochemistry (IHC) is a technique based on the specificity of antibody-antigen principle used commonly to detect antigens in tissue sections. The immune labeling can be performed in paraffin sections, cryostat sections, and ultrathin sections and can be observed in light confocal and transmission electron microscopy. However, the use of immunohistochemical techniques for the study of mineralized tissues has been a challenge for decades (Berdal et al., Arch Oral Biol 36:715-725, 1991; Nanci et al., Eur J Histochem 52:201-214, 2008). Specific procedures are necessary when compared with soft tissue immunohistochemistry. This chapter describes methods for IHC on Tissue-Tek O.C.T. compound and paraffin-embedded sections to detect antigens in the dental mineralized tissues.
MeSH term(s)	Animals ; Antigens/analysis ; Immunohistochemistry/methods ; Mice ; Paraffin Embedding ; Proteins/analysis ; Tooth/metabolism
Chemical Substances	Antigens ; Proteins
Language	English
Publishing date	2019-03-04
Publishing country	United States
Document type	Journal Article
ISSN	1940-6029
ISSN (online)	1940-6029
DOI	10.1007/978-1-4939-9012-2_17
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Article ; Online: Oral prosthetic rehabilitation in patients with Epidermolysis Bullosa Hereditaria: a systematic review.

Mascarell, Salomé / Citterio, Hélène / Le Roux, Énora / Berdal, Ariane / Lescaille, Géraldine / Friedlander, Lisa

The International journal of prosthodontics

2023 , Page(s) 1–38

Abstract: Epidermolysis bullosa hereditaria (EBH) is a group of rare diseases characterized by a cutaneous-mucosal fragility with the formation of bullae, including the oral mucosa. Therapeutic choices, especially prosthetic rehabilitation, must anticipate the ... ...

Abstract	Epidermolysis bullosa hereditaria (EBH) is a group of rare diseases characterized by a cutaneous-mucosal fragility with the formation of bullae, including the oral mucosa. Therapeutic choices, especially prosthetic rehabilitation, must anticipate the worsening of the limitation of oral opening while respecting the functional and aesthetic expectations of the patients. This review on the oral prosthetic rehabilitation of patients with epidermolysis bullosa hereditaria (EBH) to study the level of evidence and quality of the presented available articles and establish clinical recommendations for the prosthetic management of these patients. Materials and methods: An electronic search was done in July 2022 in five databases following PICOTS elements. The quality of the reports was established using the modified Pierson, Bradford Hills, and Ottawa Newcastle scale. Results: Data extracted from 19 case reports for protocolized analysis corresponded to 64 patients and 80 dental prostheses with almost 9 out of 10 patients being completely edentulous. The distribution of EBH types was 84% dystrophic, 10.5% junctional, and 5.5% simplex. The difficulties encountered by the authors synthetized in this review characteristically reflected those most likely encountered in dental practice. Most rehabilitations were implant-supported prostheses (85%) followed by removable dentures (10%) and finally dental-supported rehabilitations (5%). Fixed full-arch implant-supported prostheses represented 76.4% of implant-supported prostheses and this last prosthetic solution described showed the highest scientific quality. Conclusions: In an individualized approach to treatment, we recommend that in cases of total edentulism, fixed full arch implant-supported prostheses are the most appropriate, as they allow the best computer-aided planning, design, manufacture, and fitting of the prosthesis in such a complex clinical context.
Language	English
Publishing date	2023-12-14
Publishing country	United States
Document type	Journal Article
ZDB-ID	645046-5
ISSN	1942-4426 ; 0893-2174
ISSN (online)	1942-4426
ISSN	0893-2174
DOI	10.11607/ijp.8791
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Article ; Online: Determinants of dental care use in patients with rare diseases: a qualitative exploration.

Friedlander, Lisa / Berdal, Ariane / Cormier-Daire, Valérie / Lyonnet, Stanislas / Garcelon, Nicolas

BMC oral health

2023 Volume 23, Issue 1, Page(s) 413

Abstract: Background: Oral health is an inherent part of overall health as an important physiological crossroad of functions such as mastication, swallowing or phonation; and plays a central role in the life of relationships facilitating social and emotional ... ...

Abstract	Background: Oral health is an inherent part of overall health as an important physiological crossroad of functions such as mastication, swallowing or phonation; and plays a central role in the life of relationships facilitating social and emotional expression.Our hypothesis was that in patients with rare diseases, access to dental care could be difficult because of the lack of professionals who know the diseases and accept to treat the patients, but also because some patients with cognitive and intellectual disabilities could not find adequate infrastructure to assist in managing their oral health. Methods: This study employed a qualitative descriptive design including semi-structured interviews using guiding themes. The transcripts were reviewed to identify key themes and interviews were performed until the data were saturated and no further themes emerged. Results: Twenty-nine patients from 7 to 24 years old were included in the study of which 15 patients had an intellectual delay. The results show that access to care is complicated more by aspects concerning intellectual disability than by the fact that the disease is rare. Oral disorders are also an obstacle to the maintenance of their oral health. Conclusion: The oral health of patients with rare diseases, can be greatly enhanced by a pooling of knowledge between health professionals in the various sectors around the patient's care. It is essential that this becomes a focus of national public health action that promotes transdisciplinary care for the benefit of these patients.
MeSH term(s)	Humans ; Child ; Adolescent ; Young Adult ; Adult ; Rare Diseases ; Health Personnel ; Intellectual Disability ; Mastication ; Dental Care ; Qualitative Research
Language	English
Publishing date	2023-06-22
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2091511-1
ISSN	1472-6831 ; 1472-6831
ISSN (online)	1472-6831
ISSN	1472-6831
DOI	10.1186/s12903-023-03048-1
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Article ; Online: La dent : un marqueur d’anomalies génétiques du développement.

de La Dure-Molla, Muriel / Gaucher, Céline / Dupré, Nicolas / Bloch Zupan, Agnès / Berdal, Ariane / Chaussain, Catherine

Medecine sciences : M/S

2024 Volume 40, Issue 1, Page(s) 16–23

Abstract: Tooth formation results from specific epithelial-mesenchymal interactions, which summarize a number of developmental processes. Tooth anomalies may thus reflect subclinical diseases of the kidney, bone and more broadly of the mineral metabolism, skin or ... ...

Title translation	The tooth: A marker of developmental abnormalities.
Abstract	Tooth formation results from specific epithelial-mesenchymal interactions, which summarize a number of developmental processes. Tooth anomalies may thus reflect subclinical diseases of the kidney, bone and more broadly of the mineral metabolism, skin or nervous system. Odontogenesis starts from the 3
MeSH term(s)	Humans ; Epithelium ; Signal Transduction ; Tooth/metabolism ; Odontogenesis/genetics ; Cell Differentiation/genetics ; Gene Expression Regulation, Developmental
Language	French
Publishing date	2024-02-01
Publishing country	France
Document type	English Abstract ; Journal Article
ZDB-ID	632733-3
ISSN	1958-5381 ; 0767-0974
ISSN (online)	1958-5381
ISSN	0767-0974
DOI	10.1051/medsci/2023190
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Article ; Online: Impact of three endocrine disruptors, Bisphenol A, Genistein and Vinclozolin on female rat enamel.

Jedeon, K / Berdal, A / Babajko, A

Bulletin du Groupement international pour la recherche scientifique en stomatologie & odontologie

2016 Volume 53, Issue 1, Page(s) e28

Abstract: Concerns about the potential adverse effectsof endocrine disruptors (EDs) have been increasingover the last three decades. BisphenolA (BPA), genistein (G) and vinclozolin (V) arethree widely used EDs sharing similar effects.Since populations are exposed ... ...

Abstract	Concerns about the potential adverse effectsof endocrine disruptors (EDs) have been increasingover the last three decades. BisphenolA (BPA), genistein (G) and vinclozolin (V) arethree widely used EDs sharing similar effects.Since populations are exposed to many diverseEDs simultaneously, we demonstratedrecently their impact alone or combined onmale rat tooth enamel. The purpose of thisstudy was therefore to assess their effects onfemale rat tooth enamel in order to understandwhy they are differentially sensitive. Ratswere exposed daily in utero and after birth tolow doses of EDs during the critical fetal andsuckling periods when amelogenesis takesplace. Enamel of rats exposed to EDs presentedopaque areas of hypomineralization. Theproportion of affected rats was the highestin the groups of rats treated with BPA aloneand higher in males than in females (in all thegroups). Comparison of enamel key gene expressionlevels showed modulations of Klk4and Enamelin in males but no significant variationsin females. These findings show thatfemale rats are less affected than males bythe three EDs chosen in this study and suggestthat enamel hypomineralization may differbetween males and females.
Language	English
Publishing date	2016-06-28
Publishing country	Belgium
Document type	Journal Article
ZDB-ID	604450-5
ISSN	1647-1377 ; 0250-4693
ISSN (online)	1647-1377
ISSN	0250-4693
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Article: Relations gènes/environnement dans le développement et les anomalies dentaires.

Berdal, A

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

2003 Volume 10 Suppl 1, Page(s) 16s–18s

Title translation	Gene/environment relations in the development of tooth anomalies.
MeSH term(s)	Child ; Environment ; Genetic Predisposition to Disease ; Humans ; Risk Factors ; Tooth/growth & development ; Tooth Abnormalities/etiology ; Tooth Abnormalities/genetics
Language	French
Publishing date	2003-09-01
Publishing country	France
Document type	Journal Article
ZDB-ID	1181947-9
ISSN	1769-664X ; 0929-693X
ISSN (online)	1769-664X
ISSN	0929-693X
DOI	10.1016/s0929-693x(03)90365-4
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Article ; Online: Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method.

Friedlander, Lisa / Vincent, Marc / Berdal, Ariane / Cormier-Daire, Valérie / Lyonnet, Stanislas / Garcelon, Nicolas

Orphanet journal of rare diseases

2022 Volume 17, Issue 1, Page(s) 317

Abstract: Background: Around 8000 rare diseases are currently defined. In the context of individual vulnerability and more specifically the one induced by rare diseases, ensuring oral health is a particularly important issue. The objective of the study is to ... ...

Abstract	Background: Around 8000 rare diseases are currently defined. In the context of individual vulnerability and more specifically the one induced by rare diseases, ensuring oral health is a particularly important issue. The objective of the study is to evaluate the pattern of oral health care course for patients with any rare genetic disease. Description of oral phenotypic signs-which predict a theoretical dental health care course-and effective orientation into an oral healthcare were evaluated. Materials and methods: We set up a retrospective cohort study to describe the consideration of patient oral health and potential orientation to an oral health care course who have at least been seen once between 1 January 2017 and 1 January 2020 in Necker Enfants Malades Hospital. We recruited patients from this study using the data warehouse, Dr Warehouse® (DrWH), from Necker-Enfants Malades Hospital. Results: The study sample included 39 rare diseases, 2712 patients, with 54.7% girls and 45.3% boys. In the sample studied, 27.9% of patients had an acquisition delay or a pervasive developmental disorder. Among the patient files studied, oral and dental phenotypic signs were described for 18.40% of the patients, and an orientation in an oral healthcare was made in 15.60% of patients. The overall "network" effect was significantly associated with description of phenotypic signs (corrected p = 1.44e-77) and orientation to an oral healthcare (corrected p = 23.58e-44). Taking the Defiscience network (rare diseases of cerebral development and intellectual disability) as a reference for the odd ratio analysis, OSCAR, TETECOU, FILNEMUS, FIMARAD, MHEMO networks stand out from the other networks for their significantly higher consideration of oral phenotypic signs and orientation in an oral healthcare. Conclusion: To our knowledge, no study has explored the management of oral health in so many rare diseases. The expected benefits of this study are, among others, a better understanding, and a better knowledge of the oral care, or at least of the consideration of oral care, in patients with rare diseases. Moreover, with the will to improve the knowledge on genetic diseases, oral heath must have a major place in the deep patient phenotyping. Therefore, interdisciplinary consultations with health professionals from different fields are crucial.
MeSH term(s)	Data Mining ; Data Warehousing ; Female ; Humans ; Male ; Oral Health ; Rare Diseases ; Retrospective Studies
Language	English
Publishing date	2022-08-20
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-022-02467-7
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Article ; Online: Transcriptional Regulation of Jaw Osteoblasts: Development to Pathology.

Nassif, A / Lignon, G / Asselin, A / Zadikian, C C / Petit, S / Sun, H W / Klein, C / Ferré, F C / Morasso, M I / Berdal, A / Fournier, B P J / Isaac, J

Journal of dental research

2022 Volume 101, Issue 7, Page(s) 859–869

Abstract: Craniofacial and jaw bones have unique physiological specificities when compared to axial and appendicular bones. However, the molecular profile of the jaw osteoblast (OB) remains incomplete. The present study aimed to decipher the bone site-specific ... ...

Abstract	Craniofacial and jaw bones have unique physiological specificities when compared to axial and appendicular bones. However, the molecular profile of the jaw osteoblast (OB) remains incomplete. The present study aimed to decipher the bone site-specific profiles of transcription factors (TFs) expressed in OBs in vivo. Using RNA sequencing analysis, we mapped the transcriptome of confirmed OBs from 2 different skeletal sites: mandible (Md) and tibia (Tb). The OB transcriptome contains 709 TF genes: 608 are similarly expressed in Md-OB and Tb-OB, referred to as "OB-core"; 54 TF genes are upregulated in Md-OB, referred to as "Md-set"; and 18 TF genes are upregulated in Tb-OB, referred to as "Tb-set." Notably, the expression of 29 additional TF genes depends on their RNA transcript variants. TF genes with no previously known role in OBs and bone were identified. Bioinformatics analysis combined with review of genetic disease databases and a comprehensive literature search showed a significant contribution of anatomical origin to the OB signatures. Md-set and Tb-set are enriched with site-specific TF genes associated with development and morphogenesis (neural crest vs. mesoderm), and this developmental imprint persists during growth and homeostasis. Jaw and tibia site-specific OB signatures are associated with craniofacial and appendicular skeletal disorders as well as neurocristopathies, dental disorders, and digit malformations. The present study demonstrates the feasibility of a new method to isolate pure OB populations and map their gene expression signature in the context of OB physiological environment, avoiding in vitro culture and its associated biases. Our results provide insights into the site-specific developmental pathways governing OBs and identify new major OB regulators of bone physiology. We also established the importance of the OB transcriptome as a prognostic tool for human rare bone diseases to explore the hidden pathophysiology of craniofacial malformations, among the most prevalent congenital defects in humans.
MeSH term(s)	Gene Expression Regulation ; Humans ; Mandible ; Neural Crest ; Osteoblasts/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism
Chemical Substances	Transcription Factors
Language	English
Publishing date	2022-02-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80207-4
ISSN	1544-0591 ; 0022-0345
ISSN (online)	1544-0591
ISSN	0022-0345
DOI	10.1177/00220345221074356
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