Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 88
Filtrar
1.
J Oral Maxillofac Surg ; 82(1): 73-92, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37925166

RESUMO

PURPOSE: The purpose of this study was to measure and compare coronectomy versus extraction in patients at increased risk for inferior alveolar nerve (IAN) injuries associated with third molar removal in terms of IAN injury and other complications. METHODS: The review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-analyses checklist. We conducted a comprehensive literature search across six databases and the gray literature from July 15 to August 01, 2022. We employed Rayyan software to identify and remove duplicate articles to ensure data integrity. Our research followed the strategy patient (P), intervention (I), comparison (C), outcome (O), and study (S): (P) patients needing lower third molar surgery at higher risk of IAN injury; (I) surgery options, coronectomy or complete extraction; (C) comparisons included reduced risks of nerve injuries, postoperative complications (pain, infection, alveolitis), and increased risks of reoperation, root migration, and extraction; (O) desired outcomes were preventing nerve injuries and reducing other surgical complications; and (S) observational study designs (cohort, case-control). Excluded from consideration were studies involving teeth other than lower third molars, as well as reviews, letters, conference summaries, and personal opinions. To gauge the certainty of evidence, we employed the Grading of Recommendation, Assessment, Development, and Evaluation instrument, selecting the most current papers with the highest levels of evidence for inclusion. The primary outcome variable of our study centered on evaluating the incidence of IAN injury, and secondly, the lingual nerve (LN) injury, the postoperative pain, infection, localized alveolitis, the necessity for surgical reintervention, root migration, and extraction. These assessments were carried out with respect to their chosen operative technique for managing third molars, either coronectomy or extraction, as predictor variables. We also considered covariates such as age, gender, and the presence of systemic diseases in our analysis to account for potential confounding factors. The pooled data underwent rigorous analysis utilizing an inverse variance method with both random and fixed effect models by the "metabin" function in the R program's meta-package. Additionally, we assessed the risk of bias in the selected studies by utilizing the Joanna Briggs Institute's Critical Appraisal Checklist for Studies Reporting Prevalence Data and the Critical Appraisal Checklist for Case Reports. RESULTS: Of the 1,017 articles found, after applying the inclusion and exclusion criteria, 42 were included in this study (29 cohort and 13 case-control studies), including 3,095 patients from 18 countries. The meta-analysis showed that coronectomy reduced the risk of IAN injury [OR (Odds Ratio): 0.14; 95% CI (confidence intervals): 0.06-0.30; I2 (inconsistency index) = 0%; P = .0001], postoperative pain (OR: 0.97; 95% CI: 0.33-2.86; I2 = 81%; P = .01), and alveolitis (OR: 0.38; 95% CI: 0.13-1.09; I2 = 32.2%; P = .01) when compared to complete tooth extraction. However, it also highlighted a greater risk of reintervention (OR: 5.38; 95% CI: 1.14-25.28; I2 = 0.0%; P = .01). CONCLUSIONS: This study has demonstrated that coronectomy is associated with a decreased risk for IAN injury and decreased pain and localized alveolitis when compared to complete tooth extraction. However, it is essential to acknowledge the higher likelihood of requiring reintervention with coronectomy. Therefore, clinicians should carefully consider the advantages and potential drawbacks of both techniques and tailor their choices to the unique clinical circumstances of each patient.


Assuntos
Traumatismos do Nervo Lingual , Dente Impactado , Traumatismos do Nervo Trigêmeo , Humanos , Dente Serotino/cirurgia , Traumatismos do Nervo Trigêmeo/etiologia , Traumatismos do Nervo Trigêmeo/prevenção & controle , Dente Impactado/etiologia , Extração Dentária/efeitos adversos , Traumatismos do Nervo Lingual/complicações , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/prevenção & controle , Nervo Mandibular , Mandíbula , Coroa do Dente/cirurgia , Estudos Observacionais como Assunto
2.
Br J Oral Maxillofac Surg ; 62(1): 38-44, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38092567

RESUMO

This study aimed to compare factors that influence perception of quality of life (QoL) in patients scheduled for orthognathic surgery. This was a cross-sectional study with 91 participants from two universities in Curitiba. The orthognathic quality of life questionnaire (OQLQ) was used to assess patients' perceptions of their QoL. Sociodemographic data were collected and facial profiles classified into classes I, II, and III. DNA was extracted from oral mucosal cells and markers rs3800373 and rs1360780 for FKBP prolyl isomerase 5 were genotyped. Statistical analysis was performed using Kruskal-Wallis, Mann-Whitney, and chi-squared tests, with a significance level of 5%. There was a negative impact on general perception of QoL in females (p = 0.019) and in the domains of "oral function" (p=0.032) and "awareness of the deformity" (p=0.009). In the dominant model (CC/CT), the presence of at least one C allele for the rs1360780 marker had a negative impact on QoL in the "facial aesthetics" domain (p = 0.037). The negative impact on QoL was greater in females than in males. The perception of QoL was more negative in individuals with rs1360780 polymorphism on the FKBP5 gene and a CC/CT genotype than it was in those with a TT genotype.


Assuntos
Procedimentos Cirúrgicos Ortognáticos , Qualidade de Vida , Feminino , Humanos , Masculino , Estudos Transversais , Percepção , Inquéritos e Questionários , Proteínas de Ligação a Tacrolimo/genética
3.
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.

5.
BMC Oral Health ; 23(1): 486, 2023 07 14.
Artigo em Inglês | MEDLINE | ID: mdl-37452401

RESUMO

BACKGROUND: Nonsyndromic orofacial clefts (NSOC) are the craniofacial most common congenital malformations. There are evidences that the nonsyndromic cleft palate (NSCP) development differs from other NSOC. However, most of the publications treat NSCP without considering that information. Furthermore, few studies focus on NSCP. The aim of this study was to describe epidemiological findings of patients with isolated NSCP in Brazil. METHODS: In this cross-sectional multicenter study, four reference Centers for treatment in three different Brazilian states was investigated. Data were obtained from clinical records of patients, between November 2021 and June 2022. Researched variables were sociodemographic, clinical characteristics and pregnancy and family history. Pearson's chi-square and ANOVA One-way tests were used for associations. RESULTS: Majority were female (58.1%), white (60.7%) with incomplete NSCP (61.2%). There was an association between complete NSCP and a positive history of medical problems during pregnancy (p = 0.016; 27.9%; OR: 1.94; 1.12-3.35). Systemic alterations were perceived in 40.6% of the sample with odds ratio for development of the complete type (OR: 1.21; 0.74-1.97). Higher OR was visualized in medication use during pregnancy (OR: 1.35; 0.76-2.37) and positive family history of oral cleft (OR: 1.44; 0.80-2.55). Dental and surgical care was associated with higher age groups (p < 0.050). CONCLUSIONS: NSCP was most prevalent in white skin color female. Complete NSCP is associated with medical problems during pregnancy. Medication use during pregnancy and positive family history of oral cleft increase the chance of developing complete NSCP.


Assuntos
Fenda Labial , Fissura Palatina , Gravidez , Humanos , Masculino , Feminino , Fissura Palatina/epidemiologia , Fenda Labial/epidemiologia , Brasil/epidemiologia , Estudos Transversais
6.
Cleft Palate Craniofac J ; : 10556656231180086, 2023 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-37272066

RESUMO

OBJECTIVE: The study evaluated the association of BMP4 tag-SNPs and SNP-SNP interactions involving genes active by BMP4 pathway during craniofacial development in the susceptibility of nonsyndromic orofacial clefts (NSOC) in the Brazilian population. DESIGN: Case-control study. SETTING: Brazilian Oral Cleft Group. PARTICIPANTS: The study included 881 healthy controls and 800 patients with different types of NSOC: 232 with cleft lip only (NSCLO), 568 with cleft lip and palate (NSCLP), and 274 with cleft palate only (NSCPO). INTERVENTIONS: The genomic DNA was genotyped with allelic discrimination assays for five BMP4 tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and analyzed their allelic and genotypic associations using multiple logistic regression. The interactions of these variants with genes involved in the BMP4 signaling pathway, including FGFR1, GREM1, NOG, VAX1 and the 4p16.2 locus, were explored. MAIN OUTCOME MEASURES: BMP4 variants in the NSOC risk. RESULTS: Although only nominal p values were identified when the whole sample was considered, subgroup analysis including the patients with high African genomic ancestry showed significant associations of rs2761887 with risk for nonsyndromic cleft lip with or without cleft palate (NSCL ± P)[(ORhom: 2.16; 95% CI: 1.21-3.85; p = 0.01) and (ORrec: 2.05; 95% CI: 1.21-3.47; p = 0.006)]. Thirteen significant SNP-SNP interactions involving BMP4 and the SNPs at FGFR1, GREM1, NOG and VAX1 and at locus 4p16.2 for increased risk of NSCL ± P were identified. CONCLUSIONS: Our results demonstrate an increased risk of NSCL ± P in Brazilian individuals with enrichment of African ancestry in the presence of the BMP4 rs2762887 polymorphism, and reveal relevant genetic contribution of SNP-SNP epistatic interactions involving BMP4 variants to NSCL ± P risk.

7.
Braz. j. otorhinolaryngol. (Impr.) ; 89(3): 425-431, May-June 2023. tab
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1447711

RESUMO

Abstract Objectives This study aimed to assess the prevalence of oral lesions in patients living with HIV infection and their association with CD4 count, viral load, and antiretroviral therapy in patients with HIV. Methods A cross-sectional study was conducted on a sample of 161 patients attending the… All the patients were examined for their oral lesions, current CD4 counts, type, and duration of the therapy. Data analyses were carried out using Chi-Square, Student T/Mann-Whitney, and logistic regression tests. Results Oral lesions were observed in 58.39% of patients with HIV. Periodontal disease with 78 (48.45%) or without mobility 79 (49.07%) was observed more frequently, followed by hyperpigmentation of oral mucosa 23 (14.29%), Linear Gingival Erythema (LGE) 15 (9.32%), candidiasis pseudomembranous 14 (8.70%). Oral Hairy Leukoplakia (OHL) was observed only in 3 (1.86%). A relationship between periodontal disease with dental mobility and smoking was found (p = 0.04), as well duration of treatment (p = 1.53e-3) and age (p = 0.02). Hyperpigmentation was related to race (p = 0.01) and smoking (p = 1.30e-6). CD4 count, CD4:CD8 ratio, viral load, or type of treatment were not associated with oral lesions. Logistic regression showed that the duration of treatment has a protective effect on the periodontal disease with dental mobility (OR = 0.28 [−2.27 to −0.25]; p-value = 0.03), independent of age or smoking. To hyperpigmentation, the best model included smoking (OR = 8.47 [1.18-3.10], p = 1.31e-5), without race or type and duration of treatment. Conclusion Among HIV patients undergoing antiretroviral treatment, oral lesions can be observed, predominantly periodontal disease. Pseudomembranous candidiasis and oral hairy leukoplakia were also observed. No relationship was found between associated oral manifestations in HIV patients and the start of the treatment, TCD4+ and TCD8+ cell count, TCD4:TCD8 ratio, or viral load. The data indicate that there is a protective effect of duration of treatment with relation to periodontal disease with mobility and that hyperpigmentation seems to be more related to smoking than type and duration of treatment. Level of evidence Level 3 (OCEBM Levels of Evidence Working Group*. "The Oxford 2011 Levels of Evidence").

8.
J Oral Pathol Med ; 52(7): 601-609, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37247331

RESUMO

BACKGROUND: The expression of heat-shock protein 47 (HSP47) has been linked to collagen synthesis control and implicated in fibrotic disorders, but more recent studies have demonstrated its role in solid tumors. In this study, we explored the prognostic impact of HSP47 in oral squamous cell carcinomas (OSCC) and determined the in vitro effects of its loss-of-function on viability, proliferation, migration, invasion, and resistance to cisplatin of OSCC cells. METHODS: The HSP47 expression in tumor samples was assessed by immunohistochemistry in two independent cohorts totaling 339 patients with OSCC, and protein levels were associated with clinicopathological features and survival outcomes. The OSCC cell lines HSC3 and SCC9 were transduced with lentivirus expressing short hairpin RNA to stably silence HSP47 and used in assays to measure cellular viability, proliferation, migration, and invasion. RESULTS: HSP47 was overexpressed in OSCC samples, and its overexpression was significantly and independently associated with poor disease-specific survival and shortened disease-free survival in both OSCC cohorts. The knockdown of HSP47 showed no effects on cell viability or cisplatin sensitivity, but impaired significantly proliferation, migration, and invasion of OSCC cells, with stronger effects on SCC9 cells. CONCLUSION: Our results show a significant prognostic impact of HSP47 overexpression in OSCC and reveal that HSP47 inhibition impairs the proliferation, migration, and invasion of OSCC cells. HSP47 may represent a potential therapeutic target for OSCC.


Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Neoplasias Bucais , Humanos , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas de Cabeça e Pescoço , Proteínas de Choque Térmico HSP47/genética , Proteínas de Choque Térmico HSP47/metabolismo , Neoplasias Bucais/patologia , Cisplatino/farmacologia , Linhagem Celular Tumoral , Proliferação de Células/genética , Movimento Celular/genética
9.
Med. oral patol. oral cir. bucal (Internet) ; 28(3): e278-e284, may. 2023. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-220066

RESUMO

Background: Adverse reactions, caused during the inflammation and healing process, or even later, can be induced by the injection of dermal filler and can present a variety of clinical and histological characteristics. In this study we aimed to review the adverse reactions associated with the injection of aesthetic filling materials in the face and neck. Material and methods: The review was reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist. Studies published that mentioned adverse reactions in patients with aesthetic filling materials in the face or neck were included. Risk of bias was assessed using the Joanna Briggs Institute appraisal tool. After a 2-step selection process, 74 studies were included: 51 case reports, 18 serial cases, and five cohorts. Results: A total of 303 patients from 20 countries were assessed. Lesions were more prevalent in the lip (18%), nasolabial folds (13%), cheeks (13%), chin (10%), submental (8%), glabella (7%), and forehead (6%). Histopathological analysis revealed a foreign body granuloma in 87.1% of the patients, 3% inflammatory granuloma, 3% lipogranuloma, 2.3% xanthelasma-like reaction, 1% fibrotic reaction, 0.7% amorphous tissues, 0.7% xanthelasma, 0.3% sclerosing lipogranuloma, 0.3% siliconoma, and 0.3% foreign body granuloma with scleromyxedema. In addition, two patients displayed keratoacanthoma and two others displayed sarcoidosis after cutaneous filling. The most commonly used materials were silicone fillers (19.7%), hyaluronic acid (15.5%), and hydroxyethyl methacrylate/ethyl methacrylate suspended in hyaluronic acid acrylic hydrogel (5.6%). All patients were treated, and only 12 had prolonged complications. (AU)


Assuntos
Humanos , Técnicas Cosméticas/efeitos adversos , Granuloma de Corpo Estranho/induzido quimicamente , Granuloma de Corpo Estranho/patologia , Ácido Hialurônico/efeitos adversos , Estética Dentária , Polimetil Metacrilato
10.
Braz Oral Res ; 37: e030, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37018811

RESUMO

Hypertrichosis and dental anomalies may occur alone or in combination in the spectrum of many syndromes. To identify genetic entities characterized by hypertrichosis and dental anomalies, a search was performed in the Mendelian Inheritance in Man database with the terms "hypertrichosis" or "hirsutism" and "tooth" or "dental abnormalities." Nondependent androgen metabolism disturbances were classified as hypertrichosis. Genetic entities with hypertrichosis and dental anomalies were included in the study. Additional searches were performed in the PubMed and Orphanet databases, when necessary, in order to include data from scientific articles. An integrative analysis of the genes associated with the identified syndromes was conducted using STRING to characterize biological processes, pathways, and interactive networks. The p-values were subjected to the false discovery rate for the correction of multiple tests. Thirty-nine syndromes were identified, and dental agenesis was the most frequent dental anomaly present in 41.02% (n = 16) of the syndromes. Causative genes were identified in 33 out of 39 genetic syndromes. Among them, 39 genes were identified, and 38 were analyzed by STRING, which showed 148 biological processes and three pathways that were statistically significant. The most significant biological processes were the disassembly of the nucleosome (GO:0006337, p = 1.09e-06), chromosomal organization (GO:0051276, p = 1.09e-06) and remodeling of the chromatin (GO: 0006338, p = 7.86e-06), and the pathways were hepatocellular carcinoma (hsa05225, p = 5.77e-05), thermogenesis (hsa04714, p = 0.00019), and cell cycle (hsa04110, p = 0.0433). Our results showed that the identification of hypertrichosis and dental anomalies may raise the suspicion of one of the thirty-nine syndromes with both phenotypes.


Assuntos
Hipertricose , Humanos , Hipertricose/genética , Fenótipo
11.
Artigo em Inglês | MEDLINE | ID: mdl-36834016

RESUMO

Adolescence is marked by changes and vulnerability to the emergence of psychological problems. This study aimed to investigate associations between anxiety/depression/chronic pain and oral health-related quality of life (OHRQoL)/happiness/polymorphisms in the COMT, HTR2A and FKBP5 genes in Brazilian adolescents. A cross-sectional study was conducted with ninety adolescents 13 to 18 years. Anxiety, depression and chronic pain were evaluated using the RDC/TMD. The Oral Health Impact Profile was used to assess oral OHRQoL. The Subjective Happiness Scale was used to assess happiness. Single-nucleotide polymorphisms in COMT (rs165656, rs174675), HTR2A (rs6313, rs4941573) and FKBP5 (rs1360780, rs3800373) were genotyped using the Taqman® method. Bivariate and multivariate logistic regression analyses were performed (p < 0.05). Chronic pain and depression were associated with feelings of happiness (p < 0.05). A significant inverse association was found between anxiety and OHRQoL (p = 0.004). The presence of minor allele C of COMT rs174675 was significantly associated with depression (p = 0.040). Brazilian adolescents with depression and chronic pain considers themselves to be less happy than others and those with anxiety are more likely to have a negative impact on OHRQoL. Moreover, the rs174675 variant allele in the COMT gene was associated with depressive symptoms in Brazilian adolescents.


Assuntos
Dor Crônica , Qualidade de Vida , Humanos , Adolescente , Depressão/psicologia , Felicidade , Estudos Transversais , Ansiedade/psicologia , Polimorfismo de Nucleotídeo Único , Saúde Bucal
12.
Braz J Otorhinolaryngol ; 89(3): 425-431, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36813599

RESUMO

OBJECTIVES: This study aimed to assess the prevalence of oral lesions in patients living with HIV infection and their association with CD4 count, viral load, and antiretroviral therapy in patients with HIV. METHODS: A cross-sectional study was conducted on a sample of 161 patients attending the… All the patients were examined for their oral lesions, current CD4 counts, type, and duration of the therapy. Data analyses were carried out using Chi-Square, Student T/Mann-Whitney, and logistic regression tests. RESULTS: Oral lesions were observed in 58.39% of patients with HIV. Periodontal disease with 78 (48.45%) or without mobility 79 (49.07%) was observed more frequently, followed by hyperpigmentation of oral mucosa 23 (14.29%), Linear Gingival Erythema (LGE) 15 (9.32%), candidiasis pseudomembranous 14 (8.70%). Oral Hairy Leukoplakia (OHL) was observed only in 3 (1.86%). A relationship between periodontal disease with dental mobility and smoking was found (p=0.04), as well duration of treatment (p=1.53e-3) and age (p=0.02). Hyperpigmentation was related to race (p=0.01) and smoking (p=1.30e-6). CD4 count, CD4:CD8 ratio, viral load, or type of treatment were not associated with oral lesions. Logistic regression showed that the duration of treatment has a protective effect on the periodontal disease with dental mobility (OR = 0.28 [-2.27 to -0.25]; p-value=0.03), independent of age or smoking. To hyperpigmentation, the best model included smoking (OR=8.47 [1.18-3.10], p= 1.31e-5), without race or type and duration of treatment. CONCLUSION: Among HIV patients undergoing antiretroviral treatment, oral lesions can be observed, predominantly periodontal disease. Pseudomembranous candidiasis and oral hairy leukoplakia were also observed. No relationship was found between associated oral manifestations in HIV patients and the start of the treatment, TCD4+ and TCD8+ cell count, TCD4:TCD8 ratio, or viral load. The data indicate that there is a protective effect of duration of treatment with relation to periodontal disease with mobility and that hyperpigmentation seems to be more related to smoking than type and duration of treatment. LEVEL OF EVIDENCE: Level 3 (OCEBM Levels of Evidence Working Group*. "The Oxford 2011 Levels of Evidence").


Assuntos
Candidíase Bucal , Infecções por HIV , Hiperpigmentação , Doenças da Boca , Doenças Periodontais , Humanos , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Leucoplasia Pilosa/epidemiologia , Leucoplasia Pilosa/complicações , Doenças da Boca/etiologia , Estudos Transversais , Brasil/epidemiologia , Candidíase Bucal/epidemiologia , Candidíase Bucal/complicações , Doenças Periodontais/complicações , Hiperpigmentação/complicações
15.
J Periodontol ; 94(1): 108-118, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35665929

RESUMO

BACKGROUND: Hereditary gingival fibromatosis (HGF) is an uncommon genetic condition characterized by slow but progressive fibrous, non-hemorrhagic, and painless growth of the gingival tissues due to the increased deposition of collagen and other macromolecules of the extracellular matrix. HGF occurs in approximately 1:750,000 individuals and can exhibit dominant or recessive inheritance. To date, five loci (2p21-p22, 2p22.3-p23.3, 4q12, 5q13-q22, and 11p15) and three genes [REST (RE1-silencing transcription factor), SOS1 (Son-of-Sevenless-1), and ZNF862 (zinc finger protein 862 gene)] have been associated with HGF. Here, our study aimed to identify genetic variants associated with HGF by applying whole-exome sequencing (WES) and bioinformatics analyses. METHODS: Thirteen Brazilian individuals with HGF and nine relatives without HGF from four unrelated families were chosen for our investigation. Blood collected from the patients and their relatives were used for WES. Five Web-available tools, namely, CADD, PolyPhen, SIFT, Mutation Taster, and Franklin's algorithms, were used to predict protein damage. RESULTS: WES revealed pathogenic variants affecting the known HGF genes REST (c.1491_1492delAG) and SOS1 (c.3265_3266insTAAC) in two families. Additionally, potentially pathogenic variants segregating in the other two families were mapped to ALK receptor tyrosine kinase gene (ALK) (c.361C > T) and to collagen type I receptor and thrombospondin receptor gene (CD36) (c.1133G > T). CONCLUSION: Our findings reinforce the high genetic heterogeneity of HGF, identifying new variants in HGF known genes (REST and SOS1) and ALK and CD36 as new genes that cause HGF.


Assuntos
Fibromatose Gengival , Heterogeneidade Genética , Humanos , Fibromatose Gengival/genética , Fibromatose Gengival/patologia , Antígenos CD36/genética , Linhagem , Receptores Proteína Tirosina Quinases/genética
16.
Artigo em Inglês | MEDLINE | ID: mdl-36396593

RESUMO

Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocular, and digital features, is caused by mutations in GJA1 (gap junction alpha-1) gene and inherited in an autosomal dominant pattern. However, an autosomal recessive pattern is also reported. Here we described 2 families with members affected by ODDD. In the first family, the c.752G>C (p.S251T) and c.848C>T (p.P283L) heterozygous missense mutations and the c.825C>T (p.T275T) silent mutation were identified in the proband, which showed mild ODDD phenotypes, and in his mother, which displayed hemolytic anemia and thrombocytopenia. In the second family, the patients displayed typical features of ODDD, and Sanger sequencing identified a novel homozygous c.604C>T (p.R202C) missense mutation, whereas the parents carried the mutation. Together, these findings suggest that homozygous mutation in GJA1 induces a more severe ODDD phenotype, though interfamilial phenotype variability was observed, whereas compound heterozygous mutations in GJA1 cause a mild phenotype.


Assuntos
Anormalidades Craniofaciais , Anormalidades Dentárias , Humanos , Conexina 43/genética , Anormalidades Craniofaciais/genética , Mutação , Anormalidades Dentárias/genética
17.
Oral Dis ; 29(3): 1017-1027, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34902207

RESUMO

OBJECTIVE: To analyze the proteomic profile of salivary pleomorphic adenoma (PA) and carcinoma ex pleomorphic adenoma (CXPA) samples and correlate them with the malignant transformation of the PA. MATERIALS AND METHODS: Thirty samples (10 PA, 16 CXPA, and 4 residual PA) were microdissected and submitted to liquid chromatography-tandem mass spectrometry (LC-MS/MS). The proteomic data and protein identification were analyzed through LC-MS/MS spectra using the MaxQuant software. RESULTS: The proteomic analysis identified and quantified a total of 240 proteins in which 135 were found in PA, residual PA, and CXPA. The shared proteins were divided into six subgroups, and the proteins that showed statistically significant differences (p > 0.05) and fold-change > or <2.5 in one subgroup to another subgroup were included. Seven proteins (Apolipoprotein A-I-APOA1, haptoglobin-HP, protein of the synaptonemal complex 1-SYCP1, anion transport protein of band 3-SLC4A1, subunit µ1 of AP-1 complex-AP1M1, beta subunit of hemoglobin-HBB, and dermcidin-DCD) were classified as potential protein signatures, being HP, AP1M1, and HBB with higher abundance for PA to residual PA, APOA1 with higher abundance for PA to CXPA, SLC4A1 with lower abundance in the PA to CXPA, SYCP1with lower abundance for residual PA to CXPA, and DCD with higher abundance in the CXPA with epithelial differentiation to myoepithelial differentiation. CONCLUSIONS: In this work, we demonstrated the comparative proteomic profiling of PA, residual PA, and CXPA, and seven were proposed as protein signatures, some of which may be associated with the malignant phenotype acquisition.


Assuntos
Adenoma Pleomorfo , Neoplasias das Glândulas Salivares , Humanos , Adenoma Pleomorfo/genética , Adenoma Pleomorfo/metabolismo , Adenoma Pleomorfo/patologia , Neoplasias das Glândulas Salivares/patologia , Cromatografia Líquida , Proteômica , Espectrometria de Massas em Tandem
18.
Braz. oral res. (Online) ; 37: e030, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS, BBO - Odontologia | ID: biblio-1430036

RESUMO

Abstract Hypertrichosis and dental anomalies may occur alone or in combination in the spectrum of many syndromes. To identify genetic entities characterized by hypertrichosis and dental anomalies, a search was performed in the Mendelian Inheritance in Man database with the terms "hypertrichosis" or "hirsutism" and "tooth" or "dental abnormalities." Nondependent androgen metabolism disturbances were classified as hypertrichosis. Genetic entities with hypertrichosis and dental anomalies were included in the study. Additional searches were performed in the PubMed and Orphanet databases, when necessary, in order to include data from scientific articles. An integrative analysis of the genes associated with the identified syndromes was conducted using STRING to characterize biological processes, pathways, and interactive networks. The p-values were subjected to the false discovery rate for the correction of multiple tests. Thirty-nine syndromes were identified, and dental agenesis was the most frequent dental anomaly present in 41.02% (n = 16) of the syndromes. Causative genes were identified in 33 out of 39 genetic syndromes. Among them, 39 genes were identified, and 38 were analyzed by STRING, which showed 148 biological processes and three pathways that were statistically significant. The most significant biological processes were the disassembly of the nucleosome (GO:0006337, p = 1.09e-06), chromosomal organization (GO:0051276, p = 1.09e-06) and remodeling of the chromatin (GO: 0006338, p = 7.86e-06), and the pathways were hepatocellular carcinoma (hsa05225, p = 5.77e-05), thermogenesis (hsa04714, p = 0.00019), and cell cycle (hsa04110, p = 0.0433). Our results showed that the identification of hypertrichosis and dental anomalies may raise the suspicion of one of the thirty-nine syndromes with both phenotypes.

20.
Work ; 72(3): 827-837, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35694940

RESUMO

BACKGROUND: The likelihood of infection with SARS-COV-2 (COVID-19) in the dental office is considered high. OBJECTIVES: Assessing the impact of the COVID-19 on dental practices and anxiety levels in risk group Brazilian dentists. METHODS: A cross-sectional study was performed using an online questionnaire. The data obtained were analyzed using the IBM SPSS 25.0 software (Pearson's Chi-square association test, multivariate logistic regression, and Poisson multiple regression), with subsequent calculation of the odds ratio at a 95% confidence interval, with a significance level of 5%. RESULTS: Responses of 578 dentists distributed in all regions of Brazil were collected. Most of the dentists were female, with an average age of 35. Of the participants, 23.4% were part of the increased risk group for COVID-19. The professionals who belonged to the increased risk group had a greater chance of not feeling prepared to perform consultations (OR = 1.67) and were not performing any procedures during the pandemic (OR = 2.03). Belonging to the increased risk group did not influence anxiety levels among the dentists. The factors associated with increased anxiety were being female, being younger, working in the southeastern region of the country, being afraid of contracting COVID-19 while working, and being concerned for one's professional future. CONCLUSIONS: The pandemic has had a negative impact on the professional practice of individuals at risk, but the level of anxiety was like professionals who were not part of the increased risk group for COVID-19.


Assuntos
COVID-19 , Adulto , Ansiedade/epidemiologia , COVID-19/epidemiologia , Estudos Transversais , Odontólogos , Feminino , Humanos , Masculino , SARS-CoV-2 , Inquéritos e Questionários
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...