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1.
Dent J (Basel) ; 11(12)2023 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-38132417

RESUMO

The aim of this systematic review was to describe the clinical and genetic features of syndromes showing oligodontia as a sign. The review was performed according to the PRISMA 2020 checklist guidelines, and the search was conducted using PubMed, Scopus, Lilacs, Web of science, Livivo, and EMBASE and supplemented by a gray literature search on Google Scholar and ProQuest, applying key terms relevant to the research questions. The systematic review identified 47 types of syndromes in 83 studies, and the most common was hypohidrotic ectodermal dysplasia, which was reported in 24 patients in 22 studies. Other common syndromes that reported oligodontia included Axenfeld-Rieger syndrome, Witkop's syndrome, Ellis-van Creveld syndrome, blepharocheilodontic syndrome, and oculofaciocardiodental syndrome. The X-linked mode of inheritance was the most reported (n = 13 studies), followed by the autosomal dominant (n = 13 studies). The review describes the main syndromes that may have oligodontia as a clinical sign and reinforces the need for orodental-facial examining for adequate diagnosis and treatment of the affected patients. Molecular analysis in order to better understand the occurrence of oligodontia is imperative.

2.
Intractable Rare Dis Res ; 12(3): 202-205, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37662627

RESUMO

We performed a study to present a phenotypic and genotypic characterization of a patient clinically diagnosed with carbonic anhydrase II (CAII) deficiency syndrome. Medical records were reviewed, and oral examination was performed. Sanger sequencing was undertaken for molecular diagnosis. The patient presented with osteopetrosis, renal tubular acidosis, cerebral calcification, blindness, deafness, and development delay. The oral manifestations included anterior open bite, posterior crossbite, tooth eruption impairment, and hypoplastic amelogenesis imperfecta (AI). Molecular analysis revealed a CA2 homozygous deletion (c.753delG, p.Asn252Thrfs*14) and confirmed the clinical diagnosis. This study suggests that AI can be another feature of CAII deficiency syndrome. For the first time, a CA2 disease-causing variant is reported to be associated with syndromic AI.

3.
Eur J Hum Genet ; 31(11): 1337-1341, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37670079

RESUMO

Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). RELT encodes an orphan receptor in the tumor necrosis factor (TNFR) superfamily expressed during tooth development, with unknown function. Here, we report one Brazilian and two French families with ARAI and a distinctive hypomineralized phenotype with hypoplastic enamel, post-eruptive enamel loss, and occlusal attrition. Using Next Generation Sequencing (NGS), four novel RELT variants were identified (c.120+1G>A, p.(?); c.120+1G>T, p.(?); c.193T>C, p.(Cys65Arg) and c.1260_1263dup, p.(Arg422Glyfs*5)). Our findings extend the knowledge of ARAI dental phenotypes and expand the disease-causing variants spectrum of the RELT gene.


Assuntos
Amelogênese Imperfeita , Humanos , Amelogênese Imperfeita/genética , Amelogênese Imperfeita/patologia , Receptores do Fator de Necrose Tumoral/genética , Fenótipo , Brasil , Linhagem
4.
Dent Traumatol ; 36(1): 3-18, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31328384

RESUMO

BACKGROUND/AIMS: Dental avulsion is defined as the complete displacement of a tooth from its socket owing to trauma. The treatment outcome depends on storage of the avulsed teeth in media capable of maintaining the viability of periodontal ligament cells, when immediate replantation is not possible. To maintain the viability of periodontal ligament cells, plants can be used as a storage medium because of their pharmacological and phytotherapic properties. The aim of this study was to evaluate the effect of plants on the tissue repair following tooth replantation. METHODS: This systematic review was conducted according to the PRISMA guidelines and included articles collected in the Cochrane, LILACS, PubMed, Science Direct, Scopus and Web of Science databases, plus articles found in the grey literature. The articles were screened for partial reading using the Endnote and Rayyan platform. The methodology of studies was evaluated by using the OHAT and GRADE. RESULTS: In the initial search, 2361 articles were obtained, only 51 articles were submitted to complete reading, and 35 articles were selected for the qualitative analysis. The evaluated plants had a potential effect on cell viability and proliferation. The articles evaluated mainly the action of plants on cells of the periodontal ligament. Propolis, coconut water and Aloe vera were the most common storage medium. CONCLUSION: The methodological limitations persist, and the evaluation of the pharmacological potential of plants on dental tissues still requires more research.


Assuntos
Aloe , Cocos , Soluções para Preservação de Órgãos , Própole , Avulsão Dentária , Humanos , Ligamento Periodontal , Reimplante Dentário
5.
J Dent Educ ; 83(5): 575-584, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30804172

RESUMO

Health professionals and their patients are subject to cross-contamination and potential exposure to harmful infectious diseases. A common form of cross-contamination is through dental procedures without proper instrument care and lack of hand hygiene. The aim of this systematic review was to evaluate the published research on the adherence of educators and students in academic dental institutions to hand hygiene procedures. This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and included articles collected in the Cochrane, LILACS, PubMed, Science Direct, Scopus, and Web of Science databases. The initial search identified 1,196 articles. Ultimately, three studies were included for qualitative synthesis and two for the meta-analysis. The three articles had similar characteristics of observational hand hygiene research involving educators and dental students. In all three, hand hygiene among dental students did not reach 50% of the total number of opportunities, which is a troubling result. Although the hand hygiene rate of educators was higher than that of dental students, these findings point to a need to further promote hand hygiene to future professionals to avoid cross-contamination between health professionals and patients.


Assuntos
Docentes de Odontologia/estatística & dados numéricos , Higiene das Mãos , Faculdades de Odontologia/estatística & dados numéricos , Estudantes de Odontologia/estatística & dados numéricos , Infecção Hospitalar/prevenção & controle , Higiene das Mãos/normas , Higiene das Mãos/estatística & dados numéricos , Humanos
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