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Indian Journal of Nephrology 2021The enamel renal syndrome (ERS) is a rare autosomal recessive disease that is associated with mutations in the gene. The syndrome is characterized by impaired... (Review)
Review
The enamel renal syndrome (ERS) is a rare autosomal recessive disease that is associated with mutations in the gene. The syndrome is characterized by impaired amelogenesis of the hypoplastic type and nephrocalcinosis, presenting with presence of thin or absence of enamel, late dental eruption, intrapulpal calcifications, bilateral nephrocalcinosis, and normal plasma calcium level. The objective is to characterize ERS by systematically literature reviewing, highlighting the main findings of the syndrome to increase knowledge about this condition in the health professionals. The study is a systematic review of the scientific literature, whose research was developed in the PubMed database in March 2018. A total of 69 articles were found. Two authors analyzed their abstracts and selected, according to the language and main subject, 30 articles to write this study. A total of 69 patients were cited in the studies and their data were analysed. There was gender equivalence and the ages ranged from 1 to 64 years old. There is a clear hereditary relation of the syndrome, since there was consanguinity in 18 cases, indicating a percentage of 26.08% and family history in 30 cases (43.47%). Laboratory changes vary greatly from patient to patient and may even remain unchanged. The relationship between the syndrome and the mutation in the gene can be proven from the data, since all patients with ERS screened by the mutation were positive. With the advancement of the ERS studies, some associations with the syndrome are suspected, such as the presence of gingival fibromatosis, hearing loss, and hypertrichosis. Thus, it is noticed that the syndrome does not show a predilection for gender or age and there is a strong hereditary character, marked by the consanguinity and family history of the patients. The association with the gene is reinforced, since the mutation was identified in all patients analyzed.
PubMed: 33994680
DOI: 10.4103/ijn.IJN_27_19 -
International Journal of Dentistry 2021The aim of this study was to explore the literature in order to assess systematically the association between amelogenesis imperfecta (AI) and caries development and to... (Review)
Review
OBJECTIVES
The aim of this study was to explore the literature in order to assess systematically the association between amelogenesis imperfecta (AI) and caries development and to evaluate the DMF index among AI patients. . PubMed was used to explore the database Medline. The key words used were "Amelogenesis Imperfecta" [Mesh], "Dental Caries" [Mesh], "Tooth Loss" [Mesh], "DMF Index" [Mesh], and "Dental Restoration, Permanent" [Mesh]. Moreover, an ad hoc search was performed in order to make the study as exhaustive as possible.
RESULTS
Fifty-five articles were retained. The total number of patients gathered was 499. A percentage of 68.8% of the articles dealt with cases with a relatively low dental caries process, 20.8% dealt with cases in which the dental caries process was relatively moderate, and 10.4% dealt with cases in which the dental caries process was severe. Teeth extraction due to dental caries was mentioned in 10 articles. Eleven articles, concerning 53 patients, mentioned dental fillings. Four patients did not have dental filling due to dental caries. DMF index was very low in 2 articles and low-to-high in 3 articles.
CONCLUSION
Low dental caries susceptibility with AI patients was noticed in this study. A possible factor could be the lack of proximal contacts and elimination of fissures through enamel loss. The lack of dental caries susceptibility was also explained by the microbacterial specificity of hypoplastic AI patients. Moreover, it was also noted that the prevalence of dental caries among AI patients depends on sociodemographic change.
PubMed: 34447436
DOI: 10.1155/2021/5577615 -
European Archives of Paediatric... Dec 2022Amelogenesis imperfecta (AI) is a hereditary condition which affects the composition and structure of enamel in terms of hypoplasia and/or hypomineralization. The...
PURPOSE
Amelogenesis imperfecta (AI) is a hereditary condition which affects the composition and structure of enamel in terms of hypoplasia and/or hypomineralization. The condition severely affects patients facing such difficulties as hypersensibility, loss of tooth substance and poor aesthetics. The objective is to perform a systematic review of patient-reported outcome measures (PROMs) in patients with amelogenesis imperfecta.
METHODS
Inclusion criteria were articles written in English, including PROMs from patients with amelogenesis imperfecta. The databases PubMed, Scopus and Web of Science were searched on April 27, 2022, and eligible articles were screened. Exclusion criteria were articles based on proxy reports and single case reports.
RESULTS
405 studies were screened in terms of title and abstract, with 31 articles eligible for full-text screening, resulting in a total of 11 articles eligible for inclusion, (articles including 4-82 patients). The content was analyzed, resulting in the outcome divided into seven domains: Oral Health-Related Quality of Life (OHRQoL), Dental fear, Esthetics, Psychosocial factors, Function, Dental hypersensitivity, and Treatment outcome.
CONCLUSION
The limited quantity of research on PROMS from patients with AI indicates a significant impact of OHRQoL and daily life. A large variety of approaches have been presented in the articles. Patients report concerns of esthetics, hypersensitivity, function, and a general impact on well-being and social interaction. This highlights the importance for the need of early dental treatment.
PROSPERO REGISTRATION NUMBER
256875.
Topics: Humans; Amelogenesis Imperfecta; Quality of Life; Dental Enamel; Patient Reported Outcome Measures
PubMed: 35896941
DOI: 10.1007/s40368-022-00737-3 -
Journal of Clinical Medicine Jun 2023Individuals with amelogenesis imperfecta (AI) often present with malocclusions, especially a dental or skeletal anterior open bite (AOB). (Review)
Review
BACKGROUND
Individuals with amelogenesis imperfecta (AI) often present with malocclusions, especially a dental or skeletal anterior open bite (AOB).
OBJECTIVES
To evaluate the craniofacial characteristics in individuals with AI.
MATERIAL AND METHODS
A systematic literature search was conducted with the PubMed, Web of Science, Embase and Google Scholar databases to identify studies relating to the cephalometric characteristics of individuals with AI, without any language or publication date restrictions. The grey literature was searched using Google Scholar, Opengrey and Worldcat. Only studies with a suitable control group for comparison were included. Data extraction and a risk of bias assessment were carried out. A meta-analysis was performed using the random effects model for cephalometric variables that were evaluated in at least three studies.
RESULTS
The initial literature search yielded 1857 articles. Following the removal of duplicates and a screening of the records, seven articles were included in the qualitative synthesis, representing a total of 242 individuals with AI. Four studies were included in the quantitative synthesis. The meta-analysis results showed that individuals with AI present a smaller SNB angle and larger ANB angle than those of control groups in the sagittal plane. In the vertical plane, those with AI present a smaller overbite and larger intermaxillary angle than those without AI. No statistically significant differences were found for the SNA angle when comparing the two groups.
CONCLUSIONS
Individuals with AI seem to present with more vertical craniofacial growth, leading to an increased intermaxillary angle and decreased overbite. This possibly leads to a more retrognathic mandible with a larger ANB angle due to an anticipated posterior mandibular rotation.
PubMed: 37298021
DOI: 10.3390/jcm12113826 -
The Cochrane Database of Systematic... Jun 2013Amelogenesis imperfecta (AI) is a tooth development disorder in which the teeth are covered with thin, abnormally formed enamel. This enamel is easily fractured and... (Review)
Review
BACKGROUND
Amelogenesis imperfecta (AI) is a tooth development disorder in which the teeth are covered with thin, abnormally formed enamel. This enamel is easily fractured and damaged, which affects the appearance of the teeth, especially if left untreated. Negative psychological outcomes, due to compromised appearance and function, in patients with AI, have been found to compromise a person's attractiveness and reduce social interaction. The treatment used depends on the severity of the problem.
OBJECTIVES
To compare the success rates of different restorative materials and techniques used for the restoration of anterior and posterior teeth with AI in terms of patient satisfaction (aesthetics and sensitivity) and function.
SEARCH METHODS
We searched the Cochrane Oral Health Group's Trials Register (to 18 April 2013), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2013, Issue 3), MEDLINE via OVID (1946 to 18 April 2013), EMBASE via OVID (1980 to 18 April 2013), CINAHL via EBSCO (1980 to 18 April 2013), Abstracts of the Conference Proceedings of the International Association for Dental Research (2001 to 18 April 2013) and reference lists of relevant articles. There were no restrictions on language or date of publication in the electronic searches.
SELECTION CRITERIA
Randomised controlled trials where children and adolescents with AI who required restoration of teeth were allocated to different restoration techniques would have been selected. Outcomes which would have been evaluated were patient satisfaction, aesthetics, masticatory function and longevity of restorations.
DATA COLLECTION AND ANALYSIS
Two review authors would have extracted data and assessed the risk of bias in included studies independently. Disagreement between the two authors would have been resolved by consulting a third review author. First authors were contacted for additional information and unpublished data.
MAIN RESULTS
No studies met the inclusion criteria for this review.
AUTHORS' CONCLUSIONS
We found no randomised controlled trials of restorative treatments for children and adolescents with AI, and therefore there is no evidence as to which is the best restoration. Well defined randomised controlled trials which recruit children and adolescents and focus on the type and severity of the disorder should be undertaken to determine the best intervention for restoring teeth affected by AI.
Topics: Adolescent; Amelogenesis Imperfecta; Child; Humans; Treatment Outcome
PubMed: 23744349
DOI: 10.1002/14651858.CD007157.pub2 -
Journal of the Indian Society of... 2023Genetic polymorphisms of genes regulating amelogenesis can alter susceptibility to Early Childhood Caries (ECC). This systematic review aims to analyze associations... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Genetic polymorphisms of genes regulating amelogenesis can alter susceptibility to Early Childhood Caries (ECC). This systematic review aims to analyze associations between single-nucleotide polymorphisms of enamel formation genes and ECC.
METHODS
Search was conducted across PUBMED, CINAHL, LILACS, SCOPUS, EMBASE, Web of Science, Genome-Wide Association Studies databases from January 2003 to September 2022. This was supplemented by hand search. Totally 7124 articles were identified and 21 articles that satisfied the inclusion criteria proceeded to data extraction. Quality assessment was done using the Q-Genie tool.
RESULTS
Quantitative synthesis revealed that homozygous genotype AA of rs12640848 was significantly higher in children with ECC with an odds ratio of 2.36. Gene-based analysis revealed significant association between six variants of AMBN, four variants of KLK4, two variants of MMP20, and a single variant of each of MMP9 and MMP13 genes and ECC. The Bonferroni corrected-log10 P value of amelogenesis gene Cluster was 2.25 (0.05/88 = 5.6 × 10). Search Tool for Retrieval of Interacting Genes and Proteins plot constructed to comprehend the protein-protein interaction revealed the presence of four functional clusters. Gene function prediction using Multiple Association Network Integration Algorithm revealed that physical interaction between these genes was 69.3%.
CONCLUSION
Polymorphisms of genes regulating amelogenesis can influence the susceptibility to ECC. AA genotype of rs12640848 may increase the susceptibility to ECC. Gene-based analysis revealed a significant association between multiple polymorphisms of genes regulating amelogenesis and ECC.
Topics: Child; Humans; Child, Preschool; Polymorphism, Single Nucleotide; Genome-Wide Association Study; Dental Caries Susceptibility; Dental Caries; Multigene Family; Dental Enamel
PubMed: 37282406
DOI: 10.4103/jisppd.jisppd_78_23 -
European Journal of Dentistry Oct 2019The aim of this study was to explore the literature for clinical and histological data of an unconventional treatment with implants placement in contact with dental...
The aim of this study was to explore the literature for clinical and histological data of an unconventional treatment with implants placement in contact with dental tissue (IPICDT) and to try to clarify its indications and surgical procedure particularities.Relevant publications published until May 2019 on the IPICDT were thoroughly reviewed. Search strategy was developed using a controlled vocabulary combination.Medline's exploration and manual research identified 397 articles; 15 of these were selected after screening. IPICDT was indicated in three clinical situations: impacted teeth, ankylosed teeth, or residual roots. Clinical and radiological follow-up were satisfied except for implants placed in contact with (and not through) roots. Histological analysis revealed different mineralized tissues formed on the implant surface: cementum on removed implants in human and osteodentin on implants placed in contact with animal teeth dentin and pulp. These findings were described as new concept of implants' "Mineral integration."According to this study, the follow-up results of implants placed in contact with roots were controversial. Some implants were stable and others were either removed or kept and disinfected after root extraction because of bacterial infection. However, implants placed through ankylosed or impacted teeth were stable. These findings suggest that the clinicians have to be cautious when applying this unconventional approach. Further studies are recommended to explore its long follow-up. It is also interesting to explore this technique in cases of syndromic dental diseases with several impacted teeth (such as cleidocranial dysplasia; or amelogenesis imperfecta).
PubMed: 31891983
DOI: 10.1055/s-0039-1697213