Titre : Malformations de la bouche

Malformations de la bouche : Questions médicales fréquentes

Termes MeSH sélectionnés :

Genetic Testing
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"Diagnostic sur Malformations de la bouche", "description": "Comment diagnostique-t-on une malformation de la bouche ?\nQuels tests sont utilisés pour évaluer ces malformations ?\nLes malformations de la bouche sont-elles visibles à la naissance ?\nPeut-on détecter ces malformations avant la naissance ?\nQuel spécialiste évalue ces malformations ?", "url": "https://questionsmedicales.fr/mesh/D009056?mesh_terms=Genetic+Testing&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Malformations de la bouche", "description": "Quels sont les symptômes courants des malformations buccales ?\nLes malformations de la bouche causent-elles des douleurs ?\nY a-t-il des signes d'infection associés ?\nLes malformations affectent-elles la parole ?\nPeut-on observer des malformations dentaires ?", "url": "https://questionsmedicales.fr/mesh/D009056?mesh_terms=Genetic+Testing&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Malformations de la bouche", "description": "Peut-on prévenir les malformations de la bouche ?\nQuel rôle joue l'acide folique dans la prévention ?\nLes habitudes maternelles influencent-elles ces malformations ?\nLes vaccinations maternelles sont-elles importantes ?\nLes facteurs environnementaux jouent-ils un rôle ?", "url": "https://questionsmedicales.fr/mesh/D009056?mesh_terms=Genetic+Testing&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Malformations de la bouche", "description": "Quels traitements sont disponibles pour ces malformations ?\nLa chirurgie est-elle toujours nécessaire ?\nÀ quel âge peut-on traiter ces malformations ?\nY a-t-il des soins post-opératoires spécifiques ?\nLes traitements sont-ils efficaces ?", "url": "https://questionsmedicales.fr/mesh/D009056?mesh_terms=Genetic+Testing&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Malformations de la bouche", "description": "Quelles complications peuvent survenir après un traitement ?\nLes malformations de la bouche entraînent-elles des problèmes nutritionnels ?\nY a-t-il des risques psychologiques associés ?\nLes malformations peuvent-elles affecter la croissance ?\nQuelles sont les complications à long terme possibles ?", "url": "https://questionsmedicales.fr/mesh/D009056?mesh_terms=Genetic+Testing&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Malformations de la bouche", "description": "Quels sont les facteurs de risque pour ces malformations ?\nL'âge maternel influence-t-il le risque ?\nLes médicaments pendant la grossesse sont-ils un risque ?\nLes infections maternelles peuvent-elles affecter le fœtus ?\nL'alimentation maternelle joue-t-elle un rôle ?", "url": "https://questionsmedicales.fr/mesh/D009056?mesh_terms=Genetic+Testing&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on une malformation de la bouche ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic se fait par examen clinique et imageries comme les radiographies." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour évaluer ces malformations ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests d'imagerie, comme l'IRM ou le scanner, peuvent être utilisés." } }, { "@type": "Question", "name": "Les malformations de la bouche sont-elles visibles à la naissance ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, beaucoup de malformations sont visibles à la naissance ou lors des examens néonatals." } }, { "@type": "Question", "name": "Peut-on détecter ces malformations avant la naissance ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Certaines malformations peuvent être détectées par échographie prénatale." } }, { "@type": "Question", "name": "Quel spécialiste évalue ces malformations ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Un chirurgien maxillo-facial ou un orthodontiste évalue généralement ces malformations." } }, { "@type": "Question", "name": "Quels sont les symptômes courants des malformations buccales ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des difficultés à manger, parler ou respirer, et des déformations visibles." } }, { "@type": "Question", "name": "Les malformations de la bouche causent-elles des douleurs ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Elles peuvent causer des douleurs, surtout si elles affectent les tissus mous ou les dents." } }, { "@type": "Question", "name": "Y a-t-il des signes d'infection associés ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des signes d'infection comme rougeur, gonflement ou écoulement peuvent apparaître." } }, { "@type": "Question", "name": "Les malformations affectent-elles la parole ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elles peuvent entraîner des troubles de la parole en raison de la position des organes buccaux." } }, { "@type": "Question", "name": "Peut-on observer des malformations dentaires ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des malformations de la bouche peuvent également entraîner des anomalies dentaires." } }, { "@type": "Question", "name": "Peut-on prévenir les malformations de la bouche ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Certaines malformations peuvent être prévenues par une bonne nutrition et des soins prénatals." } }, { "@type": "Question", "name": "Quel rôle joue l'acide folique dans la prévention ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "L'acide folique réduit le risque de malformations congénitales, y compris buccales." } }, { "@type": "Question", "name": "Les habitudes maternelles influencent-elles ces malformations ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des habitudes comme le tabagisme ou l'alcoolisme pendant la grossesse augmentent les risques." } }, { "@type": "Question", "name": "Les vaccinations maternelles sont-elles importantes ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines vaccinations peuvent réduire le risque de malformations congénitales." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exposition à des toxines environnementales peut augmenter le risque de malformations." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour ces malformations ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la chirurgie, l'orthodontie et la thérapie de la parole." } }, { "@type": "Question", "name": "La chirurgie est-elle toujours nécessaire ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Pas toujours, certaines malformations peuvent être gérées par des soins conservateurs." } }, { "@type": "Question", "name": "À quel âge peut-on traiter ces malformations ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement peut commencer dès la naissance ou être planifié selon la gravité." } }, { "@type": "Question", "name": "Y a-t-il des soins post-opératoires spécifiques ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des soins post-opératoires incluent le suivi de la cicatrisation et la gestion de la douleur." } }, { "@type": "Question", "name": "Les traitements sont-ils efficaces ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "La plupart des traitements sont efficaces, mais le succès dépend de la gravité de la malformation." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir après un traitement ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications peuvent inclure des infections, des cicatrices ou des problèmes fonctionnels." } }, { "@type": "Question", "name": "Les malformations de la bouche entraînent-elles des problèmes nutritionnels ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elles peuvent causer des difficultés à manger, entraînant des carences nutritionnelles." } }, { "@type": "Question", "name": "Y a-t-il des risques psychologiques associés ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les malformations peuvent entraîner des problèmes d'estime de soi et d'anxiété sociale." } }, { "@type": "Question", "name": "Les malformations peuvent-elles affecter la croissance ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des difficultés alimentaires peuvent impacter la croissance et le développement global." } }, { "@type": "Question", "name": "Quelles sont les complications à long terme possibles ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Les complications à long terme incluent des problèmes dentaires, de parole et d'estime de soi." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour ces malformations ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux, des maladies maternelles et des habitudes de vie." } }, { "@type": "Question", "name": "L'âge maternel influence-t-il le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les femmes de plus de 35 ans ont un risque accru de malformations congénitales." } }, { "@type": "Question", "name": "Les médicaments pendant la grossesse sont-ils un risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains médicaments peuvent augmenter le risque de malformations buccales." } }, { "@type": "Question", "name": "Les infections maternelles peuvent-elles affecter le fœtus ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines infections comme la rubéole peuvent causer des malformations congénitales." } }, { "@type": "Question", "name": "L'alimentation maternelle joue-t-elle un rôle ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une alimentation pauvre en nutriments peut augmenter le risque de malformations." } } ] } ] }

Sources (10000 au total)

Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease.

To date, almost 600 genes have been associated with ocular genetic diseases. As these discoveries are made, clinical genetic testing continues to grow and become a more common element in the diagnosti... We distributed a REDCap survey to parents of pediatric patients in the Indiana University Ocular Genetics Clinic and through the Foundation Fighting Blindness MyRetinaTracker database to examine facto... Parents were primarily motivated by the opportunity to learn about their child's prognosis, formal diagnosis, and possible treatment options. Parents were most interested in discussing prognosis, adap... Parents seem to be generally satisfied by the care from their ocular genetics team. However, families' desires are not being fully met, especially with information about prognosis and support resource...

Genetic Testing for Familial Hypercholesterolemia in Clinical Practice.

Genetic testing has proven utility in identifying and diagnosing individuals with FH. Here we outline the current landscape of genetic testing for FH, recommendations for testing practices and the eff... Alternatives to the traditional genetic testing and counseling paradigm for FH are being explored including expanding screening programs, testing in primary care and/or cardiology clinics, leveraging ...

Preimplantation genetic testing for familial amyloid polyneuropathy.

Embryo selection in Familial amyloid polyneuropathy eradicates the disease, but the widespread application of preimplantation genetic testing (PGT) for this monogenic disease still requires greater po... Familial amyloid polyneuropathy is a fatal, chronic, hereditary autosomal dominant neurodegenerative disorder caused by a single nucleotide mutation in the transthyretin gene. The disease courses with... The application of PGT would prevent the disease, the birth of children with this devastating disease and the enormous health costs associated. For PGT to become the first reproductive option for pati...

A Case for Genetic Testing in Isolated Tympanic Paragangliomas.

The aim of this study is to describe two clinical cases, which we believe highlight the need to consider routine genetic testing of all patients with new diagnosis of a tympanic paraganglioma (PGL).... Two patients seen in the ENT clinic at a tertiary center with a diagnosis of isolated tympanic PGL, without family history.... Since 2016, all patients with newly diagnosed isolated tympanic PGL (glomus tympanicum) are offered review by the clinical genetic team and genetic testing of a panel of paraganglioma/phaeochromocytom... We describe the results of genetic testing, the clinical course and discuss the ongoing implications for management.... Both cases were identified to have a pathogenic variant in the SDHB gene after initial surgery. The clinical course for both cases was complicated by disease recurrence, as well as metastatic and secr... These two cases reinforce the importance of offering genetic testing for all cases of isolated tympanic PGL. The discovery of a significant underlying genetic variant may affect management decisions a...

Genetics professionals are key to the integration of genetic testing within the practice of frontline clinicians.

Genetic tests have become widely available. We sought to understand the use of genetic tests in the practice of frontline clinicians within the United States Department of Veterans Affairs (VA).... We administered a web-based survey to clinicians at 20 VA facilities. Physicians, nurse practitioners, physician assistants, and pharmacists were eligible. We excluded genetics providers and clinician... The response rate was 11.3% (1207/10,680) and of these, 909 respondents were eligible. Only 20.8% of the respondents reported feeling prepared to use genetic tests and 13.0% of the respondents were cu... Most VA clinicians don't feel prepared to use genetic tests. Those with genetic testing experience are more likely to consult genetics providers. The demand for genetics providers should increase as f...