Exploring the role of the WNT5A rs566926 polymorphism and its interactions in non-syndromic orofacial cleft: a multicenter study in Brazil

Abstract Associations between the WNT5A rs566926 variant and non-syndromic orofacial cleft (NSOC) have been reported in different populations. Objective This study aimed to investigate the role of the rs566926 single nucleotide polymorphism (SNP) in WNT5A and its interactions with SNPs in BMP4, FGFR1, GREM1, MMP2, and WNT3 in the occurrence of NSOC in a Brazilian population. Methodology A case-control genetic association study was carried out involving participants from four regions of Brazil, totaling 801 patients with non-syndromic cleft lip with or without cleft palate (NSCL±P), 273 patients with cleft palate only (NSCPO), and 881 health volunteers without any congenital condition (control). Applying TaqMan allelic discrimination assays, we evaluated WNT5A rs566926 in an ancestry-structured multiple logistic regression analysis, considering sex and genomic ancestry as covariates. Interactions between rs566926 and variants in genes involved in the WNT5A signaling pathway (BMP4, FGFR1, GREM1, MMP2, and WNT3) were also explored. Results WNT5A rs566926 was significantly associated with an increased risk of NSCL±P, particularly due to a strong association with non-syndromic cleft lip only (NSCLO), in which the C allele increased the risk by 32% (OR: 1.32, 95% CI: 1.04-1.67, p=0.01). According to the proportions of European and African genomic ancestry, the association of rs566926 reached significant levels only in patients with European ancestry. Multiple interactions were detected between WNT5A rs566926 and BMP4 rs2071047, GREM1 rs16969681 and rs16969862, and FGFR1 rs7829058. Conclusion The WNT5A rs566926 polymorphism was associated with NSCL±P, particularly in individuals with NSCLO and high European ancestry. Epistatic interactions involving WNT5A rs566926 and variants in BMP4, GREM1, and FGFR1 may contribute to the risk of NSCL±P in the Brazilian population.

Perfil dos pacientes de um centro odontológico de referência para pacientes especiais em Mato Grosso atendidos em ambiente hospitalar / Profile of patients of an odontological reference center for special patients in Mato Grosso served in hospital environment

Objetivo: Este trabalho teve como objetivo traçar o perfil dos pacientes especiais atendidos em ambiente hospitalar em Mato Grosso (MT). Material e método: A pesquisa foi realizada através de prontuários de pacientes especiais atendidos nos anos de 2016, 2017 e 2018 no Centro Estadual de Odontologia para Pacientes Especiais (CEOPE), Cuiabá- MT. Os parâmetros analisados foram: sexo (masculino e feminino), idade, condição clínica prévia (doenças metabólicas; condição de déficit cognitivo; doenças psíquicas; sequelas físicas permanentes e má formação congênita), tipo da anestesia geral, local, não realizado), e dos procedimentos realizados (invasivos; não invasivos; ambos), e se recebe ou não cuidados em residência. Resultados: Os pacientes atendidos em ambiente hospitalar eram em sua maioria do sexo masculino 28 (60,86%). A faixa etária mais prevalente foi adulta (entre 19 e 59 anos) com 31 pacientes (67,39%). A condição clínica prévia mais frequente entre os pacientes foi doenças crônicas e síndromes metabólicas com 14 pacientes (30,43%). A maior parte dos pacientes não dispunha de cuidados em regime de Home Care 43 (93,47%). O tipo da anestesia mais utilizado foi a anestesia geral, em 29 pacientes (63,04%). Dos procedimentos realizados, houve prevalência de procedimentos invasivos, em 30 casos (65,21%). Conclusões: O estudo revelou que o perfil do paciente com necessidade especial, atendido em ambiente hospitalar é adulto, do sexo masculino, com doenças crônicas e síndromes metabólicas para a realização de procedimentos invasivos sob anestesia geral.

Objective: This study aimed to analyze the profile of the special patients of a dental center treated in a hospital environment. Material and method: The research was conducted through the analysis of medical records of special patients attended in 2016, 2017 and 2018 at the State Center of Dentistry for Special Patients (CEOPE), Cuiabá, MT, Brazil. The parameters analyzed were: gender (male and female), age, previous clinical condition (metabolic diseases; cognitive defect condition; psychic disorders; permanent physical sequelae and congenital malformation), type of anesthesia (general, local, not performed), and procedures performed (invasive; noninvasive; both), and whether or not care was received at home. Results: The patients treated in the hospital environment were mostly male 28 (60.86%). The most prevalent age group was adult (between 19 and 59 years old) with 31 patients (67.39%). The most common prior clinical condition among patients was chronic diseases and metabolic syndromes with 14 (30.43%). Most patients did not have home care assistance 43 (93.47%). The most used type of anesthesia was general anesthesia in 29 patients (63.04%). Of the procedures performed, there was a prevalence of invasive procedures in 30 cases (65.21%). Conclusions: The study revealed that the profile of patients with special needs treated in a hospital environment is an adult male with chronic diseases and metabolic syndromes for invasive procedures under general anesthesia.