La Filière de Santé Maladies Rares TÊTECOU - Améliorer le parcours de soins, la formation et la recherche des malformations de la tête, du cou et des dents.

Title: La Filière de Santé Maladies Rares TÊTECOU - Améliorer le parcours de soins, la formation et la recherche des malformations de la tête, du cou et des dents. Abstract: Les Filières de Santé Maladies Rares (FSMR) sont des structures nationales, labellisées par les ministères en charge de la Santé et de la Recherche, dans le cadre des Plans nationaux maladies rares (PNMR). Depuis 2004, les maladies rares sont en effet définies comme un enjeu de santé publique et bénéficient d'une organisation et de moyens spécifiques mis en œuvre dans les PNMR successifs.

Oral prosthetic rehabilitation in patients with Epidermolysis Bullosa Hereditaria: a systematic review.

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.

Implant retained prosthesis on a free fibula flap: A challenging procedure for prosthetic and soft tissue management.

A 39-year-old woman who had undergone fibular flap reconstruction and simultaneous implant placement after the surgical removal of a cemento-ossifying fibroma was experiencing mild discomfort 3 years later and requested an implant-supported prosthesis to restore her edentulous left maxillary quadrant. Initially, an interim removable partial denture was provided and later duplicated with clear resin. The interim prosthesis identified the excessive thickness of the grafted cutaneous soft tissue and the inadequate emergence angle of the nonfunctioning implants. By using the interim prosthesis as a surgical guide, vestibuloplasty was performed to thin the peri-implant soft tissue and the excessive skin graft from the initial maxillofacial surgery. Concurrently, the emergence angle of the implant was corrected with angled multi-unit abutments. A tissue compression stent was then made and attached to the abutments to guide the soft tissue healing process. When the peri-implant soft tissue had stabilized, a definitive implant-supported prosthesis was provided.

Determinants of dental care use in patients with rare diseases: a qualitative exploration.

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.

The Smart Data Extractor, a Clinician Friendly Solution to Accelerate and Improve the Data Collection During Clinical Trials.

In medical research, the traditional way to collect data, i.e. browsing patient files, has been proven to induce bias, errors, human labor and costs. We propose a semi-automated system able to extract every type of data, including notes. The Smart Data Extractor pre-populates clinic research forms by following rules. We performed a cross-testing experiment to compare semi-automated to manual data collection. 20 target items had to be collected for 79 patients. The average time to complete one form was 6'81" for manual data collection and 3'22" with the Smart Data Extractor. There were also more mistakes during manual data collection (163 for the whole cohort) than with the Smart Data Extractor (46 for the whole cohort). We present an easy to use, understandable and agile solution to fill out clinical research forms. It reduces human effort and provides higher quality data, avoiding data re-entry and fatigue induced errors.

Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method.

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.

Full-mouth rehabilitation choices depending on amelogenesis imperfecta's type: A familial case report.

Amelogenesis imperfecta, a rare disease, represents inherited, congenital defects that primarily affect enamel with esthetic and functional impairment affecting everyday life. We present oral rehabilitation of a mother and her son, respectively, suffering from an hypoplastic and an hypocalcified form of AI.

Oral health-related quality of life in patients with X-linked hypophosphatemia: a qualitative exploration.

Introduction: X-linked hypophosphatemia (XLH) is a rare, hereditary, and lifelong phosphate-wasting disorder characterized by rickets in childhood and impaired teeth mineralization. In the oral cavity, spontaneous abscesses can often occur without any clinical signs of alteration of the causal tooth. The objective of our study was to evaluate the oral care pathway and the oral health-related quality of life (OHRQoL) of patients following in an expert oral medicine department located within a Parisian hospital and working in close collaboration with an endocrinology department expert in this pathology. Methods: This study employed a qualitative descriptive design including semi-structured interviews using guiding themes. Results: Twenty-one patients were included in the study. The topics brought up exceeded the initial objectives as the patients mostly addressed the alteration of their oral health-related and general quality of life; a very chaotic oral health care pathway with oral health professionals not aware of their pathology; consequences on their social, professional, and school integration. Patients declared the importance of having a multidisciplinary team around them, including medical and dental professionals. Conclusions: The variety of manifestations in patients with XLH necessitates high coordination of multidisciplinary patient care to optimize quality of life and reduce disease burden. Oral health care pathways are very chaotic for patients who have difficulty in finding professionals with sufficient knowledge of the disease. OHRQoL is therefore diminished. This situation improves when patients enter a coordinated care network.

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.

Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements of Morphology and have been established after careful discussions within an international group of experienced dentists and geneticists. The classification system was elaborated in the French collaborative network "TÊTECOU" and the affiliated O-Rares reference/competence centers. The classification includes isolated and syndromic disorders with oral and dental anomalies, to which causative genes and main extraoral signs and symptoms are added. A systematic literature analysis yielded 408 entities of which a causal gene has been identified in 79%. We classified dental disorders in eight groups: dental agenesis, supernumerary teeth, dental size and/or shape, enamel, dentin, dental eruption, periodontal and gingival, and tumor-like anomalies. We aim the classification to act as a shared reference for clinical and epidemiological studies. We welcome critical evaluations of the definitions and classification and will regularly update the classification for newly recognized conditions.

Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study.

BACKGROUND: Rare diseases affecting the teeth, the oral cavity and the face are numerous, each of them present specific characteristics, and is a life-long condition. The aim of the study was to assess the association between Oral health-related quality of life (OHRQoL), and demographic characteristics, clinical and dental factors, and psycho-social characteristics to investigate that oral symptoms are not the main factors underlying a decrease in OHRQoL. MATERIAL AND METHODS: We conducted a national cohort study in French centres for rare diseases (RD) specialized in orofacial diseases. The inclusion criteria were: to have received care in RD centres over the last 5 years (2012-2017) and to have been between 6 and 17 years of age on September 1, 2017. Patients were invited to answer a questionnaire composed of socio-demographic, clinical and dental questions, psychosocial questions and then fill in the Child-OIDP Index. At the end of the questionnaire, a free space was left for the patient to add a verbatim comment to provide qualitative data. Thematic analysis was used to analyze the verbatim answers. RESULTS: Complete data were available for 110 patients. The sample included 44.5% boys and 55.5% girls. Ages ranged from 6 to 17 years old and 68.2% were between 6 to 12 years old and 31.8% were between 13 and 17 years old. Factor associated with a lower OHRQoL were: being a girl (p = 0.03), renouncement to dental care for financial reasons (p = 0.01), having syndromic disease (p = 0.01), having a problem with tooth shape and color (p = 0.03), feeling isolated, alone and different from other children (p = 0.003 and p = 0.02). Qualitative analysis highlighted very little recourse to psychological care and patients reported great anxiety and fear about the future. CONCLUSION: OHRQoL of children suffering from these diseases is impaired, especially from the psychosocial point of view but also from that of the course of treatment and access to care. There is a need to improve the legibility of care pathways and the financial coverage of treatments.

Technical Report: Crown Fabrication Without an Impression.

Prosthetic treatment for elderly patients is a challenge that addresses both patient- and technology-mediated dental concerns. This report describes the fabrication of a cobalt-chromium crown without an impression using a digitized and scanned temporary crown to provide excellent integration.

Clinical Appraisal of the WAM'X Super Quick Post-and-Core Removal Device.

This report describes an innovative technique to remove post-and-core restorations. The WAM'X Super Quick post removal device permits a secure mechanical traction technique that can adapt to variable root angulations. Pivoting prongs mounted on forceps allow post removal while preserving the ferrule effect to improve resistance to fractures.

Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study.

BACKGROUND: In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to the development and evaluation of health strategies to improve the management of patients with rare diseases. The objective of this study has been to provide the first national-level data concerning rare diseases of the head, neck and teeth and to assess the balance between demand and supply of care in France. METHODS: Centres of expertise for rare diseases record a minimum data set on their clinical cases, using a list of rare Head, Neck and Teeth diseases established in 2006. The present analysis focuses on 2008 to 2015 data based on the Orphanet nomenclature. Each rare disease RD "case" was defined by status "affected" and by the degree of diagnostic certainty, encoded as: confirmed, probable or non-classifiable. Analysed parameters, presented with their 95% confidence intervals using a Poisson model, were the following: time and age at diagnosis, proportions of crude and standardized RD prevalence by age, gender and geographical site. The criteria studied were the proportions of patients in Paris Region and the "included cases geography", in which these proportions were projected onto the other French Regions, adjusting for local populations. RESULTS: In Paris Region, estimated prevalence of these diseases was 5.58 per 10,000 inhabitants (95% CI 4.3-7.1). At December 31st 2015, 11,342 patients were referenced in total in France, of whom 7294 were in Paris Region. More than 580 individual clinical entities (ORPHA code) were identified with their respective frequencies. Most abnormalities were diagnosed antenatally. Nearly 80% of patients recorded come to Paris hospitals to obtain either diagnosis, care or follow up. We observed that the rarer the disease, the more patients were referred to Paris hospitals. CONCLUSIONS: A health network covering a range of aspects of the rare diseases problematic from diagnostics to research has been developed in France. Despite this, there is still a noticeable imbalance between health care supply and demand in this area.