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1.
Oral Dis ; 2023 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-37357361

RESUMEN

This study aimed to evaluate and compare the risk of dental caries in between human immunodeficiency virus (HIV)-infected and uninfected children and adolescents. An electronic search was performed on PubMed/MEDLINE, Web-of-Science, Scopus, LILACS, ProQuest, and ClinicalTrials.gov up to May 2022. The critical appraisal checklist developed by the Joanna Briggs Institute was used to evaluate the quality of the included studies. Meta-analysis was performed using the RevMan 5.4. Sixteen studies were included. A total of 3231 participants were evaluated, including 1701 and 1530 HIV-infected and uninfected children and adolescents, respectively. The meta-analysis revealed a higher risk of dental caries for primary dentitions in HIV-infected children and adolescents by decayed, missing, filled tooth (dmft) (SMD:0.34; p = 0.006) and decayed, missing, filled surface (dmfs) scores (SMD:0.37; p = 0.001). Similar results were observed for permanent dentition, with increased dental caries in HIV-infected children and adolescents with DMFT (SMD:0.32; p = 0.003) and DMFS (SMD:1.78; p < 0.0001) scores. Regarding the quality assessment, most of the included studies were moderate or good quality. However, the certainty of the evidence of the outcomes was very low. This systematic review and meta-analysis showed higher caries severity in permanent and deciduous teeth among HIV-infected children and adolescents.

2.
Gen Dent ; 71(2): 28-31, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36825970

RESUMEN

Mucoepidermoid carcinoma (MEC) is the most common salivary gland adenocarcinoma, more frequently affecting female patients in the fifth decade of life. When MEC arises in the minor salivary glands, the palate is the primary site. This case report describes an MEC on the palate of a 30-year-old woman. The lesion was initially treated as a pyogenic granuloma, but the final diagnosis based on histopathology was low-grade MEC. The patient was referred for cancer treatment, and no recurrence was observed during 3 years of follow-up. Some malignant tumors can mimic nonneoplastic reactive lesions clinically, which highlights the importance of biopsy and proper microscopic analysis of the resulting specimens.


Asunto(s)
Carcinoma Mucoepidermoide , Granuloma Piogénico , Neoplasias de las Glándulas Salivales , Humanos , Femenino , Adulto , Carcinoma Mucoepidermoide/diagnóstico , Granuloma Piogénico/patología , Hueso Paladar/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/patología , Glándulas Salivales Menores/patología
3.
J Oral Pathol Med ; 50(10): 1067-1071, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34549835

RESUMEN

BACKGROUND: Adenoid ameloblastoma is a rare epithelial neoplasm, histologically characterized by the presence of ameloblastoma-like features, duct-like structures, epithelial whorls, and cribriform architecture. Dentinoid material is usually present. Some advocate adenoid ameloblastoma is an ameloblastoma variant. However, there are overlapping features not only with ameloblastoma, but also with adenomatoid odontogenic tumor. Most ameloblastomas are characterized by the presence of BRAF p.V600E mutations and adenomatoid odontogenic tumors harbor signature KRAS mutations. The molecular features of adenoid ameloblastoma remain unknown. METHODS: Nine adenoid ameloblastoma cases were screened by TaqMan allele-specific qPCR to assess BRAF p.V600E, ameloblastoma signature mutation, and KRAS p.G12V and p.G12R, adenomatoid odontogenic tumor signature mutations. RESULTS: BRAF and KRAS mutations were not detected in any of the adenoid ameloblastoma cases. CONCLUSION: The molecular results support adenoid ameloblastoma as an entity distinct from adenomatoid odontogenic tumor and ameloblastoma.


Asunto(s)
Tonsila Faríngea , Ameloblastoma , Neoplasias Glandulares y Epiteliales , Tumores Odontogénicos , Proteínas Proto-Oncogénicas B-raf , Proteínas Proto-Oncogénicas p21(ras) , Ameloblastoma/genética , Humanos , Mutación , Tumores Odontogénicos/genética , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas p21(ras)/genética
4.
Gen Dent ; 69(4): 70-74, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34185672

RESUMEN

The objective of this study was to investigate the relationship between antineoplastic treatments and oral complications in patients with head and neck cancer. Medical records from 400 patients treated at a cancer center were analyzed. Univariable analysis was initially performed to verify the association between the variables and the presence of oral complications. Multivariable analysis was performed using multiple linear regression to assess the association between the type of treatment performed and the presence and types of oral complications. The medical records of 290 patients included information about the presence or absence of oral complications of therapy, and 199 of these patients experienced oral complications. An average of 1 oral complication per patient was found; 104 patients experienced 1 complication, 74 patients experienced 2 complications, and 21 patients experienced 3 or 4 complications. Oral complications were correlated with tobacco use (P = 0.01), alcohol use (P = 0.006), radiotherapy (P = 0.000), and chemotherapy (P = 0.028). The association between oral complications and radiotherapy was greater than the association between oral complications and chemotherapy, but the risk increased when both therapies were performed (odds ratio [OR] = 4.41; P = 0.004). Mucositis was associated with both radiotherapy and chemotherapy, and the incidence increased when both types of treatment were combined (OR = 5.28; P = 0.001). Oral complications of antineoplastic therapy are related to lifestyle habits and treatment modalities. Clinicians should educate patients with head and neck cancer about the role of lifestyle habits in possible adverse treatment effects and consider a more careful approach to follow-up care of patients who are undergoing both radiotherapy and chemotherapy.


Asunto(s)
Antineoplásicos , Neoplasias de Cabeza y Cuello , Estomatitis , Antineoplásicos/efectos adversos , Neoplasias de Cabeza y Cuello/tratamiento farmacológico , Neoplasias de Cabeza y Cuello/radioterapia , Humanos , Probabilidad
5.
BMC Med Genet ; 18(1): 39, 2017 04 04.
Artículo en Inglés | MEDLINE | ID: mdl-28376813

RESUMEN

BACKGROUND: Epidemiological studies have indicated a higher incidence of breast and gastric cancer in patients with nonsyndromic cleft lip with or without cleft palate (NSCL ± P) and their relatives, which can be based on similar genetic triggers segregated within family with NSCL ± P. METHODS: This multicenter study evaluated the association of 9 single nucleotide polymorphisms (SNP) in AXIN2 and CDH1, representing genes consistently altered in breast and gastric tumors, with NSCL ± P in 223 trios (father, mother and patient with NSCL ± P) by transmission disequilibrium test (TDT). RESULTS: Our results showed that the minor A allele of rs7210356 (p = 0.01) and the T-G-G-A-G haplotype formed by rs7591, rs7210356, rs4791171, rs11079571 and rs3923087 SNPs (p = 0.03) in AXIN2 were significantly under-transmitted to patients with NSCL ± P. In CDH1 gene, the C-G-A-A and A-G-A-G haplotypes composed by rs16260, rs9929218, rs7186053 and rs4783573 polymorphisms were respectively over-transmitted (p = 0.01) and under-transmitted (p = 0.008) from parents to the children with NSCL ± P. CONCLUSIONS: The results suggest that polymorphic variants in AXIN2 and CDH1 may be associated with NSCL ± P susceptibility, and reinforce the putative link between cancer and oral clefts.


Asunto(s)
Neoplasias de la Mama/genética , Labio Leporino/genética , Neoplasias Gástricas/genética , Alelos , Antígenos CD , Proteína Axina/genética , Brasil , Neoplasias de la Mama/patología , Cadherinas/genética , Labio Leporino/patología , Susceptibilidad a Enfermedades , Femenino , Genotipo , Haplotipos , Humanos , Desequilibrio de Ligamiento , Masculino , Polimorfismo de Nucleótido Simple , Neoplasias Gástricas/patología
6.
Cleft Palate Craniofac J ; 53(5): 550-6, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-26402724

RESUMEN

OBJECTIVE: To determine the association of single-nucleotide polymorphisms (SNPs) in genes related to craniofacial development, which were previously identified as susceptibility signals for nonsyndromic oral clefts, in Brazilians with nonsyndromic cleft lip and/or palate (NSCL/P). DESIGN: The SNPs rs748044 (TNP1), rs1106514 (MSX1), rs28372960, rs15251 and rs2569062 (TCOF1), rs7829058 (FGFR1), rs1793949 (COL2A1), rs11653738 (WNT3), and rs242082 (TIMP3) were assessed in a family-based transmission disequilibrium test (TDT) and a structured case-control analysis based on the individual ancestry proportions. SETTING: The SNPs were initially analyzed by TDT, and polymorphisms showing a trend toward excess transmission were subsequently studied in an independent case-control sample. PARTICIPANTS: The study sample consisted of 189 case-parent trios of nonsyndromic cleft lip with or without cleft palate (NSCL±P), 107 case-parent trios of nonsyndromic cleft palate (NSCP), 318 isolated samples of NSCL±P, 189 isolated samples of NSCP, and 599 healthy controls. MAIN OUTCOME MEASURE: Association of alleles with NSCL/P pathogenesis. RESULTS: Preferential transmission of SNPs rs28372960 and rs7829058 in NSCL±P trios and rs11653738 in NSCP trios (P = .04) were observed, although the structured case-control analysis did not confirm these associations. The haplotype T-C-C formed by TCOF1 SNPs rs28372960, rs15251, and rs2569062 was more frequently transmitted from healthy parents to NSCL±P offspring, but the P value (P = .01) did not withstand Bonferroni correction for multiple tests. CONCLUSIONS: With the modest associations, our results do not support the hypothesis that TNP1, MSX1, TCOF1, FGFR1, COL2A1, WNT3, and TIMP3 variants are risk factors for nonsyndromic oral clefts in the Brazilian population.


Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Polimorfismo de Nucleótido Simple , Brasil , Estudios de Casos y Controles , Genotipo , Humanos
7.
Am J Med Genet A ; 167A(10): 2344-9, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26198054

RESUMEN

Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. Linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL ± P, mostly in European-derived or Asian populations. Genetic predisposition to NSCL ± P is ethnicity-dependent, and the genetic basis of susceptibility to NSCL ± P likely varies among populations. The population of Brazil is highly admixed, with highly variable ancestry; thus, the genetic determinants of NSCL ± P susceptibility may be quite different. This study tested association of 8 single-nucleotide polymorphisms (SNPs), previously identified by genome-wide studies in other populations, with NSCL ± P in a Brazilian population with high African ancestry. SNPs rs560426, rs642961, rs1530300, rs987525, rs3758249, rs7078160, rs17085106, and rs13041247 were genotyped in 293 Brazilian patients with NSCL ± P and 352 unaffected Brazilian controls. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphic markers to characterize genetic ancestry. The average African ancestry background was 31.1% for the NSCL ± P group and 36.7% for the control group. After adjustment for ancestry and multiple testing, the minor alleles of rs3758249 (OR: 1.58, 95% CI: 1.25-2.01, P = 0.0001) and rs7078160 (OR: 1.59, 95% CI: 1.21-2.07, P = 0.0002) were significantly associated with risk of NSCL ± P. Polymorphisms located in IRF6 (rs642961) and 8q24 (rs1530300 and rs987525) showed marginal associations in this Brazilian population with high African ancestry. These results indicate that rs3758249 at 9q22 and rs7078160 at 10q25.3 represent risk loci for NSCL ± P in the Brazilian population with high African ancestry.


Asunto(s)
Población Negra , Labio Leporino/genética , Fisura del Paladar/genética , Sitios Genéticos , Predisposición Genética a la Enfermedad , Alelos , Pueblo Asiatico , Enfermedades Asintomáticas , Brasil , Estudios de Casos y Controles , Cromosomas Humanos Par 10 , Cromosomas Humanos Par 8 , Cromosomas Humanos Par 9 , Labio Leporino/etnología , Labio Leporino/patología , Fisura del Paladar/etnología , Fisura del Paladar/patología , Femenino , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Patrón de Herencia , Factores Reguladores del Interferón/genética , Masculino , Polimorfismo de Nucleótido Simple , Riesgo , Población Blanca
8.
Birth Defects Res A Clin Mol Teratol ; 103(4): 292-8, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25808365

RESUMEN

BACKGROUND: The MTHFR rs1801131A>C and rs1801133C>T variants have been analyzed as putative genetic risk factors for oral clefts within various populations worldwide. METHODS: To test the role of these polymorphisms in nonsyndromic cleft lip with or without cleft palate (NSCL/P) in the Brazilian population, we conducted a study combining a Family-Based Association Test (transmission disequilibrium test) and a structured association analysis (case-control study) based on the individual ancestry proportions. The rs1801131 and rs1801133 were initially analyzed in 197 case-parent trios by transmission disequilibrium test, and polymorphisms showing significant association with NSCL/P were subsequently studied in independent sample composed of 318 isolated samples of NSCL/P and 598 healthy controls in a case-control approach. Genomic ancestry was characterized by a set of 40 biallelic short insertion/deletion markers. RESULTS: A strong overtransmission of the T allele of rs1801133 was observed in case-parent trios of NSCL/P (p = 0.002), but no preferential parent-of-origin transmission was detected. No association of rs1801131 polymorphism with NSCL/P was observed. The structured case-control analysis supported that the T allele was significantly more frequent in the NSCL/P group (odds ratio: 1.37; 95% CI: 1.12-1.69; p = 0.002) than in the control group. Both polymorphisms were in linkage disequilibrium (D' = 0.94 and r(2) = 0.79), and haplotype-transmission disequilibrium test for allelic combination of rs1801131 and rs1801133 showed a significant overtransmission of haplotype A-T to the affected NSCL/P offspring (p = 0.001). CONCLUSION: Our findings provide evidences for the involvement of rs1801133 in the development of NSCL/P in the Brazilian population.


Asunto(s)
Encéfalo/anomalías , Labio Leporino/epidemiología , Labio Leporino/genética , Fisura del Paladar/epidemiología , Fisura del Paladar/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple/genética , Brasil/epidemiología , Marcadores Genéticos/genética , Humanos , Patrón de Herencia/genética , Factores de Riesgo
9.
Med Oral Patol Oral Cir Bucal ; 20(1): e52-8, 2015 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-25129254

RESUMEN

Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits, broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.


Asunto(s)
Acrocefalosindactilia/diagnóstico , Acrocefalosindactilia/genética , Adolescente , Adulto , Brasil , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Fenotipo
10.
Birth Defects Res A Clin Mol Teratol ; 100(1): 36-42, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24446087

RESUMEN

BACKGROUND: Although genome-wide association studies have identified several susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in populations around the world, the role of most loci is unknown in the highly heterogeneous Brazilian population. METHODS: To determine the association of 7 markers that showed genome-wide significant association in Brazilians with NSCL/P, we conducted a structured association study conditioned upon the individual ancestry proportions to evaluate markers at 1p36 (rs742071), 2p21 (rs7590268), 3p11.1 (rs7632427), 8q21.3 (rs12543318), 13q31.1 (rs8001641), 15q22.2 (rs1873147), and 17q22 (rs227731) in 505 patients with NSCL/P and 594 healthy controls recruited from 2 different geographical regions of Brazil. The polymorphisms were genotyped by TaqMan 5'-exonuclease allelic discrimination assay, and each sample was independently typed for 40 biallelic short insertion/deletion markers to characterize the genomic ancestry. RESULTS: After Bonferroni correction for multiple tests, significant associations with NSCL/P were observed for rs742071, rs1873147, and rs227731. However, the frequency of the risk alleles varied between the geographical regions, according to the proportions of European and African genomic ancestry. The group enriched by European ancestry showed significant association with rs227731 (p = 0.001), whereas the group with high African ancestry was significantly associated with rs1873147 polymorphism (p = 0.005). The significant association with rs742071 was only detected in the combined sample (p = 0.005). CONCLUSION: The findings of the present study revealed the associations of 1p36 (rs742071), 15q22 (rs1873147), and 17p22 (rs227731) with NSCL/P in the Brazilian population, and further confirmed that the genetic heterogeneity of NSCL/P may be related to the different ethnic background of the affected individuals.


Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Eliminación de Secuencia , Población Negra , Brasil , Estudios de Casos y Controles , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 17 , Labio Leporino/etnología , Labio Leporino/patología , Fisura del Paladar/etnología , Fisura del Paladar/patología , Frecuencia de los Genes , Marcadores Genéticos , Estudio de Asociación del Genoma Completo , Técnicas de Genotipaje , Humanos , Patrón de Herencia , Mutagénesis Insercional , Oportunidad Relativa , Población Blanca
11.
Birth Defects Res A Clin Mol Teratol ; 100(1): 30-5, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24254627

RESUMEN

BACKGROUND: Polymorphisms within the MTHFR (rs2274976) and MTHFD1 (rs2236225) genes were previously associated with maternal susceptibility for having an offspring with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in the Brazilian population. However, as the genotypes of the patients with NSCL/P were not evaluated, it is not clear whether the effects are associated with maternal or offspring genotypes. The aim of this study was to evaluate the association of rs2274976 and rs2236225 in the pathogenesis of NSCL/P. METHODS: By using the TaqMan 5'-exonuclease allelic discrimination assay, the present study genotyped the rs2274976 and rs2236225 polymorphisms in 147 case-parent trios, 181 isolated samples of NSCL/P and 478 healthy controls of the Brazilian population. Transmission disequilibrium test and structured case-control analysis based on the individual ancestry proportions were performed. RESULTS: The transmission disequilibrium test showed a significant overtransmission of the rs2274976 A allele (p = 0.004), but no preferential parent-of-origin transmission was detected. The structured case-control analysis supported those findings, revealing that the minor A allele of rs2274976 was significantly more frequent in NSCL/P group compared with control group (p = 0.001), yielding an odds ratio of 3.46 (95% confidence interval, 2.05-5.85). No association of rs2236225 polymorphism with NSCL/P was observed in both transmission disequilibrium test and case-control analysis. CONCLUSION: The results of the study revealed that the presence of the rs2274976 A allele is a risk marker for the development of NSCL/P in the Brazilian population.


Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Patrón de Herencia , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Adulto , Alelos , Brasil , Estudios de Casos y Controles , Niño , Labio Leporino/patología , Fisura del Paladar/patología , Femenino , Frecuencia de los Genes , Ligamiento Genético , Marcadores Genéticos , Genotipo , Humanos , Masculino , Oportunidad Relativa , Riesgo
12.
Head Neck Pathol ; 18(1): 63, 2024 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-38958847

RESUMEN

PURPOSE: This study describes a large, well-documented case series of salivary gland polymorphous adenocarcinomas (PAC) from a single Brazilian center. METHODS: Demographic data, clinical presentation, histopathological and immunohistochemical features from 26 cases of PAC were analyzed and discussed in detail. RESULTS: Most patients were females (n = 21), with a ratio of 1:4.2 (male: female) with a mean age of 58.8 years (ranging from 36 to 84 years). The most common clinical presentation was a fibrocollagenous, firm nodular lesion, with a mean size of 2.46 cm (ranging from 0.5 to 3 cm). Most lesions occurred on the palate (n = 16), followed by buccal mucosa (n = 3), upper lip (n = 3), buccal vestibule (n = 2) and alveolar ridge (n = 1). Histologically, various growth patterns were observed, including tubular, solid, cribriform, papillary, and cystic. Additionally, glomeruloid slit-like structures, mucous, and clear cells were noted. Surface papillary epithelial hyperplasia was observed in a few cases. Nine cases exhibited myxoid and collagenous areas, while two cases showed fusiform areas and another case demonstrated squamous differentiation. Clear cell predominance was noted in two cases, and peri- and intraneural invasion was seen in eight cases. Immunohistochemical analysis revealed positivity for S-100, p63 and CK7, and negativity for p40 in all cases. The Ki-67 proliferation index was markedly low in most cases, with a mean of 2.5%. CONCLUSION: We have provided a broad, detailed description of the clinical and microscopic features of PAC in a large, Brazilian cohort. These findings, in a resource-limited area, may be quite useful for establishing a proper diagnosis.


Asunto(s)
Adenocarcinoma , Neoplasias de las Glándulas Salivales , Humanos , Masculino , Persona de Mediana Edad , Femenino , Anciano , Adulto , Anciano de 80 o más Años , Adenocarcinoma/patología , Neoplasias de las Glándulas Salivales/patología , Brasil , Biomarcadores de Tumor/análisis
13.
BMC Med Genet ; 14: 53, 2013 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-23679094

RESUMEN

BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common orofacial birth defect with a wide range prevalence among different populations. Previous association studies with populations from Europe and Asia have identified putative susceptibility markers for NSCL/P in fibroblast growth factor 12 (FGF12), vinculin (VCL), connexin 43 (CX43) and in a region close to the ventral anterior homeobox 1 (VAX1) gene. However, there have thus far been no studies of these markers in NSCL/P Brazilian patients, and as the genetic ancestry of the Brazilian population is highly varied, the predisposition to those disease markers can be different. METHODS: Herein we conducted a structured association study conditioned on the individual ancestry proportions to determine the role of 16 polymorphic markers within those genes in 300 patients with NSCL/P and 385 unaffected controls. RESULTS: None of the alleles and genotypes showed association with NSCL/P, though there was a significant association of the haplotype formed by VAX1 rs10787760, rs6585429 and rs1871345 polymorphisms with NSCL/P that did not persist Bonferroni correction for multiple tests. CONCLUSIONS: Our results are consistent with a lack of involvement of FGF12, VCL and CX43 variants with NSCL/P pathogenesis in Brazilian patients. Furthermore, the higher frequency of a haplotype of VAX1 with NSCL/P patients suggests a low penetrant gene for oral cleft, and warrants further studies.


Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Conexina 43/genética , Factores de Crecimiento de Fibroblastos/genética , Proteínas de Homeodominio/genética , Polimorfismo de Nucleótido Simple , Factores de Transcripción/genética , Vinculina/genética , Alelos , Brasil , Estudios de Casos y Controles , Labio Leporino/complicaciones , Fisura del Paladar/complicaciones , Femenino , Variación Genética , Genotipo , Haplotipos , Humanos , Masculino , Oportunidad Relativa , Riesgo
14.
Med Oral Patol Oral Cir Bucal ; 18(3): e414-20, 2013 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-23524414

RESUMEN

BACKGROUND AND OBJECTIVE: Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in genes involved in the craniofacial development. DESIGN: We carried out a case-control analysis of 13 single nucleotide polymorphisms in 9 genes related to craniofacial development, including TBX1, PVRL1, MID1, RUNX2, TP63, TGFß3, MSX1, MYH9 and JAG2, in 367 patients with NSCL/P and 413 unaffected controls from Brazil to determine their association with NSCL/P. RESULTS: Four out of 13 polymorphisms (rs28649236 and rs4819522 of TBX1, rs7940667 of PVRL1 and rs1057744 of JAG2) were presented in our population. Comparisons of allele and genotype frequencies revealed that the G variant allele and the AG/GG genotypes of TBX1 rs28649236 occurred in a frequency significantly higher in controls than in the NSCL/P group (OR: 0.41; 95% CI: 0.25-0.67; p=0.0002). The frequencies of rs4819522, rs7940667 and rs1057744 minor alleles and genotypes were similar between control and NSCL/P group, without significant differences. No significant associations among cleft types and polymorphisms were observed. CONCLUSION: The study suggests for the first time evidences to an association of the G allele of TBX1 rs28649236 polymorphism and NSCL/P.


Asunto(s)
Labio Leporino/epidemiología , Labio Leporino/genética , Fisura del Paladar/epidemiología , Fisura del Paladar/genética , Polimorfismo Genético , Brasil/epidemiología , Estudios de Casos y Controles , Genotipo , Crecimiento/genética , Humanos , Desarrollo Maxilofacial/genética , Riesgo , Cráneo/crecimiento & desarrollo
15.
Braz J Otorhinolaryngol ; 89(3): 425-431, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36813599

RESUMEN

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").


Asunto(s)
Candidiasis Bucal , Infecciones por VIH , Hiperpigmentación , Enfermedades de la Boca , Enfermedades Periodontales , Humanos , Infecciones por VIH/complicaciones , Infecciones por VIH/tratamiento farmacológico , Leucoplasia Vellosa/epidemiología , Leucoplasia Vellosa/complicaciones , Enfermedades de la Boca/etiología , Estudios Transversales , Brasil/epidemiología , Candidiasis Bucal/epidemiología , Candidiasis Bucal/complicaciones , Enfermedades Periodontales/complicaciones , Hiperpigmentación/complicaciones
17.
Nephron Physiol ; 118(3): p62-5, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21212699

RESUMEN

Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. This paper describes the clinicopathological features of a patient who was born of consanguineous parents and who presented with oral alterations, including yellow and misshapen teeth, intrapulpal calcifications, delayed tooth eruption, and gum enlargement. Scanning electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome. Since nephrocalcinosis is often asymptomatic and can be associated with impaired renal function, dentists who see children with generalized and thin hypoplastic AI should consider a renal ultrasound scan and referral to a nephrologist, if appropriate. Children with nephrocalcinosis should also be considered for a dental check.


Asunto(s)
Anomalías Múltiples/diagnóstico , Amelogénesis Imperfecta/diagnóstico , Nefrocalcinosis/diagnóstico , Diente/patología , Anomalías Múltiples/genética , Niño , Consanguinidad , Femenino , Humanos , Microscopía Electrónica de Rastreo , Nefrocalcinosis/diagnóstico por imagen , Síndrome , Diente/ultraestructura , Ultrasonografía
18.
Head Neck Pathol ; 15(4): 1421-1425, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33715098

RESUMEN

Kaposiform hemangioendothelioma is a rare neoplasm with intermediate malignant behavior, mainly affecting infants and children. Involvement head and neck is uncommon, and there are only four cases reported in the oral cavity and oropharynx. Microscopically, it is characterized by a vascular proliferation permeated by spindle-to-ovoid cells resembling Kaposi sarcoma. Immunohistochemically, the tumor is positive for CD31, CD34 and negative for D2-40. Herein we present a rare case of intraoral Kaposiform hemangioendothelioma in a 10-year-old boy.


Asunto(s)
Hemangioendotelioma/diagnóstico , Síndrome de Kasabach-Merritt/diagnóstico , Neoplasias de la Boca/diagnóstico , Sarcoma de Kaposi/diagnóstico , Biomarcadores de Tumor/análisis , Niño , Diagnóstico Diferencial , Hemangioendotelioma/patología , Hemangioendotelioma/cirugía , Humanos , Síndrome de Kasabach-Merritt/patología , Síndrome de Kasabach-Merritt/cirugía , Masculino , Neoplasias de la Boca/patología , Neoplasias de la Boca/cirugía , Radiografía Panorámica , Sarcoma de Kaposi/patología , Sarcoma de Kaposi/cirugía
19.
Imaging Sci Dent ; 49(3): 191-199, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31583201

RESUMEN

PURPOSE: To compare the diagnostic ability of undergraduate dental students to detect maxillary sinus abnormalities in panoramic radiographs (PR) and cone-beam computed tomography (CBCT). MATERIALS AND METHODS: This was a retrospective study based on the evaluation of PR and CBCT images. A pilot study was conducted to determine the number of students eligible to participate in the study. The images were evaluated by 2 students, and 280 maxillary sinuses were assessed using the following categories: normal, mucosal thickening, sinus polyp, antral pseudocyst, nonspecific opacification, periostitis, antrolith, and antrolith associated with mucosal thickening. The reference standard was established by the consensus of 2 oral radiologists based on the CBCT images. The kappa test, receiver operating characteristic curves, and 1-way analysis of variance with the Tukey-Kramer post-hoc test were employed. RESULTS: Intraobserver and interobserver reliability showed agreement ranging from substantial (0.809) to almost perfect (0.922). The agreement between the students' evaluations and the reference standard was reasonable (0.258) for PR and substantial (0.692) for CBCT. Comparisons of values of sensitivity, specificity, and accuracy showed that CBCT was significantly better (P<0.05). CONCLUSION: CBCT was better than PR for the detection of maxillary sinus abnormalities by dental students. However, CBCT should only be requested after a careful analysis of PR by students and more experienced professionals.

20.
J Endod ; 45(12): 1479-1488, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31630784

RESUMEN

INTRODUCTION: This retrospective cross-sectional study investigated the applicability of the periapical and endodontic status scale (PESS) to determine the association of endodontically treated teeth with maxillary sinus (MS) abnormalities through cone-beam computed tomographic imaging. METHODS: A total of 631 endodontically treated teeth were analyzed. MS abnormalities were classified as mucosal thickening, sinus polyp, antral pseudocyst, nonspecific opacification, periostitis, and antral calcification. The PESS was used to evaluate the quality of endodontic treatment as well as periapical tissue conditions. The data were analyzed by chi-square tests (P < .05). RESULTS: MS abnormalities were detected in 70.52% of the sample, with a greater prevalence of mucosal thickening (38.19%), whereas periapical lesions were observed in 55.94% of the cases. Treated root canals with unsatisfactory filling, homogeneity, and coronal sealing had an odds Ratio (OR) of 2.21, 2.88, and 2.99, respectively (P < .001). Periapical lesions larger than 5 mm (OR = 314.95), in more than 1 root (OR = 3.72), involving the furcation region (OR = 5.21), in contact with important structures (OR = 7.37), and with cortical bone destruction (OR = 4.09) were significantly related to the presence of MS abnormalities (P < .001). An OR of 99,668 was observed in periostitis lesions greater than 5 mm (P < .001). CONCLUSIONS: The PESS proved to be an important tool for the analysis of endodontic and periapical conditions and was applicable to determine potential associations with MS abnormalities.


Asunto(s)
Tomografía Computarizada de Haz Cónico , Periodontitis Periapical , Diente no Vital , Estudios Transversales , Implantes Dentales , Humanos , Seno Maxilar , Periodontitis Periapical/diagnóstico , Periodontitis Periapical/terapia , Estudios Retrospectivos , Diente no Vital/diagnóstico por imagen
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