Frequency of Oral Lesions, Olfactory, and Gustatory Disorders and Xerostomia in Patients with COVID-19.

COVID-19, a respiratory illness with a global impact on millions, has recently been linked to manifestations affecting various bodily systems, including the oral cavity. Studies highlight oral issues, like ulcers, blisters, and white patches, alongside olfactory and gustatory dysfunction, influencing an individual's quality of life. In this context, our study aimed to assess the frequency of oral lesions, olfactory and gustatory disorders, and xerostomia resulting from COVID-19. An observational study was conducted with 414 patients to evaluate the frequency of oral symptoms resulting from COVID-19. Patients were diagnosed with mild symptoms and evaluated through clinical examination of the oral cavity and a questionnaire to assess functional alterations. The findings showed that 139 out of 414 patients presented clinical manifestations, with oral lesions being the most prevalent (19.1%), followed by gustatory disorders (18.1%), xerostomia (14.2%), and olfactory dysfunction (14%). The most prevalent oral lesions were ulcerations (n = 51), candidiasis (n = 8), and erythema or red plaques (n = 7). Unfortunately, 50 (12.1%) patients died during this study. Therefore, oral lesions, olfactory and gustatory dysfunctions, and xerostomia are common symptoms associated with COVID-19.

The impact of smoking on COVID-19-related mortality: a Brazilian national cohort study.

INTRODUCTION: Current evidence suggests the potential heightened vulnerability of smokers to severe coronavirus disease (COVID-19) outcomes. AIMS: This study aimed to analyze the clinical outcomes and mortality related to tobacco use in a cohort of hospitalized Brazilian COVID-19 patients. METHODS: This retrospective cohort study analyzed adults hospitalized for COVID-19 in Brazil using the SIVEP-Gripe database (official data reported by public and private healthcare facilities for monitoring severe acute respiratory syndrome cases in Brazil). The inclusion criteria were patients over 18 years of age with a positive RT-qPCR test for SARS-CoV-2. The analysis focused on in-hospital mortality, considering smoking as an exposure variable, and included covariates such as age, gender, and comorbidities. Smoking history was collected from the self-reported field in the database. Statistical analyses included descriptive statistics, crude Odds Ratios, and multivariable binary logistic regression. RESULTS: This study included 2,124,285 COVID-19 patients, among whom 44,774 (2.1 %) were smokers. The average age of the smokers was higher than that of the never-smokers (65.3 years vs. 59.7 years). The clinical outcomes revealed that smokers had higher rates of intensive care unit admission (51.6 % vs. 37.2 % for never-smokers), invasive ventilatory support (31.5 % vs. 20.2 % for never-smokers), and higher mortality (42.7 % vs. 31.8 % for never smokers). In the multivariable analysis, smokers demonstrated a heightened risk of death (aOR 1.23; 95 % CI 1.19-1.25). CONCLUSIONS: This large populational-based cohort study confirms the current evidence and underscore the critical importance of recognizing smoking as a substantial risk factor for adverse outcomes in COVID-19 patients.

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.

OBJECTIVE: To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T). CASE DESCRIPTION: A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips, generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness and bone reabsorption in the terminal phalanges. In dermatological examination, atrophic skin, loss of cutaneous elasticity, hyperkeratosis, dermal calcinosis, and hyperpigmented and hypochromic patches were observed. Radiology exams performed showed bilateral absence of the mandibular condyles, clavicle resorption with local amorphous bone mass confluence with the scapulae, shoulder joints with subluxation and severe bone dysplasia, hip dysplasia, osteopenia and subcutaneous calcifications. COMMENTS: MADA is a rare autosomal recessive disease caused by mutations in LMNA gene. It is characterized by craniofacial deformities, skeletal anomalies, skin alterations, lipodystrophy in certain regions of the body and premature ageing. Typical MADA is caused by the p.R527H mutation in the LMNA gene. However, molecular analysis performed from oral epithelial cells obtained from the patient showed the rare mutation c.1579C>T, p. R527C in the exon 9 of LMNA. This is the sixth family identified with this mutation described in the literature.

Outcomes of SARS-CoV-2 and seasonal viruses among 2 million adults hospitalized for severe acute respiratory infection during the COVID-19 pandemic in Brazil.

BACKGROUND: The outbreak of the COVID-19 pandemic has had a profound impact on the circulation of seasonal respiratory viruses. This study aimed to compare the outcomes of SARS-CoV-2 and seasonal viruses in adults hospitalized with severe acute respiratory infection (SARI) during the COVID-19 pandemic. METHODS: This population-based cohort study included patients aged > 18 years hospitalized for SARI in Brazil between February 2020 and February 2023. The primary outcome was in-hospital mortality. A competing risk analysis was used to account for competing events. RESULTS: In total, 2,159,171 patients were included in the study. SARS-CoV-2 was the predominant virus (98.7%). The cumulative incidence of in-hospital mortality was 33.1%, 31.5%, 21.0%, 18.7%, and 18.6%, for patients positive for SARS-CoV-2, adenovirus, RSV, influenza, and other viruses, respectively. SARS-CoV-2 accounted for 99.3% of the deaths. Older age, male sex, comorbidities, hospitalization in the northern region, and oxygen saturation <95% were the common risk factors for death among all viruses. CONCLUSIONS: In this large cohort study, individuals infected with SARS-CoV-2 or adenovirus had the highest risk of mortality. Irrespective of the virus type, older age, male sex, comorbidities, hospitalization in vulnerable regions, and low oxygen saturation were associated with an increased risk of fatality.

Vaccination against COVID-19: the view of Brazilian federal judges.

The aim was to analyze the perception of Brazilian federal judges on the implications of COVID-19 vaccination. A study was carried out with Brazilian federal judges, who received a survey designed with multiple-choice questions on COVID-19 vaccination, covering topics such as its mandatory aspect, the application of coercive measures, hesitation to vaccinate, priority groups, the duties of Brazilian Health Regulatory Agency (Anvisa, acronym in Portuguese), the role of the Judiciary branch, and immunity passports. A total of 254 out of 1,300 federal judges from all states responded to the survey. Most respondents have a Bachelor's degree or a specialization (59.1%) and have been judges for more than 10 years (63.8%). A great majority of the judges (87.7%) agree with vaccine mandates for adults and for children and adolescents (66.1%). Over 75% of judges believe that all levels of government can impose sanctions on those who refuse to get vaccinated. The judges trust vaccination 93% of the time, 56.1% reject anti-vaccination movements, and 75.2% believe that Anvisa duties should be respected. The Judiciary branch actions concerning the COVID-19 pandemic are approved by 62.6% of judges, and 88.2% support immunity passports. There is a direct connection among mandatory vaccination, trust in the vaccine, and the adoption of immunity passports. Most federal judges agree with vaccine mandates for children and adults, support the application of sanctions for vaccination refusal, disapprove of anti-vaccination movements, agree with Anvisa's duties, and support judicial intervention in relation to the COVID-19 pandemic.

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

BACKGROUND: 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.

Outcomes of SARS-CoV-2 and Seasonal Viruses Among Children Hospitalized in Brazil.

BACKGROUND AND OBJECTIVES: Understanding how severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) interacts with other respiratory viruses is crucial for developing effective public health strategies in the postpandemic era. This study aimed to compare the outcomes of SARS-CoV-2 and seasonal viruses in children and adolescents hospitalized with severe acute respiratory infection (SARI). METHODS: This population-based, retrospective cohort study included children and adolescents hospitalized with SARI from February 2020 to February 2023 in Brazil. The main exposure of interest was viral etiology. The primary outcome was in-hospital mortality. Competing risk analysis was used to account for time dependency and competing events. RESULTS: A total of 235 829 patients had available results of the viral tests, with SARS-CoV-2 predominance. According to the competing-risk survival analysis, the estimated probability of a fatal outcome at 30 days of hospitalization according to the viral strain was 6.5%, 3.4%, 2.9%, 2.3%, 2.1%, and 1.8%, for SARS-CoV-2, coinfection, adenovirus, influenza, other viruses, and respiratory syncytial virus, respectively. Individuals with a positive test for SARS-CoV-2 had hazard of death 3 times higher than subjects with a negative test (hazard ratio, 3.3; 95% confidence interval, 3.1-3.5). After adjustment by the competing-risk multivariable analysis, admission in Northeast and North regions, oxygen saturation <95%, and the presence of comorbidities were risk factors for death in all viral strains. CONCLUSIONS: SARS-CoV-2 infection had the highest hazard of in-hospital mortality in this pediatric cohort hospitalized with SARI. Regardless of viral etiology, the presence of underlying medical conditions was a risk factor for death.

Resumption of brazilian oral medicine health care during the second period of the COVID-19 pandemic

Aim: This present study aims to compare the data from the Brazilian Unified Health System on the number of clinical consultations of Oral Medicine from the first 6 months (March-August 2020) of the COVID-19 pandemic in Brazil with the last 6 months (September-February 2020/2021) to update the data, verify the measures' effectiveness to return clinical activities in the following months. Methods: perform a literature review of recent articles that report the impact of the COVID-19 pandemic on Oral Medicine. Results: There was an increase in the number of Oral Medicine clinical consultations in the second half of the pandemic throughout Brazil (+64.2%), representing over 9,235 appointments in this period. Conclusion: measures for the return of health assistance and the practice of Telemedicine proved to be effective after the second period of the pandemic. Even so, strengthening security measures against the coronavirus is essential to ward off a new wave since the Omicron variant emerged in the country and, consequently, possible new lockdowns that might affect healthcare in Brazil

Vaccination against COVID-19: the view of Brazilian federal judges / Vacinação contra a COVID-19: a visão de juízes federais brasileiros / Vacunación contra la COVID-19: la visión de los jueces federales brasileños

Abstract: The aim was to analyze the perception of Brazilian federal judges on the implications of COVID-19 vaccination. A study was carried out with Brazilian federal judges, who received a survey designed with multiple-choice questions on COVID-19 vaccination, covering topics such as its mandatory aspect, the application of coercive measures, hesitation to vaccinate, priority groups, the duties of Brazilian Health Regulatory Agency (Anvisa, acronym in Portuguese), the role of the Judiciary branch, and immunity passports. A total of 254 out of 1,300 federal judges from all states responded to the survey. Most respondents have a Bachelor's degree or a specialization (59.1%) and have been judges for more than 10 years (63.8%). A great majority of the judges (87.7%) agree with vaccine mandates for adults and for children and adolescents (66.1%). Over 75% of judges believe that all levels of government can impose sanctions on those who refuse to get vaccinated. The judges trust vaccination 93% of the time, 56.1% reject anti-vaccination movements, and 75.2% believe that Anvisa duties should be respected. The Judiciary branch actions concerning the COVID-19 pandemic are approved by 62.6% of judges, and 88.2% support immunity passports. There is a direct connection among mandatory vaccination, trust in the vaccine, and the adoption of immunity passports. Most federal judges agree with vaccine mandates for children and adults, support the application of sanctions for vaccination refusal, disapprove of anti-vaccination movements, agree with Anvisa's duties, and support judicial intervention in relation to the COVID-19 pandemic.

Resumo: O objetivo foi analisar a visão de juízes federais brasileiros sobre as implicações da vacinação contra a COVID-19. Foi realizado um estudo com juízes federais brasileiros, que receberam uma pesquisa elaborada com questões de múltipla escolha sobre a vacinação contra a COVID-19, abordando temas como sua obrigatoriedade, aplicação de medidas coercitivas, hesitação vacinal, grupos prioritários, ações da Agência Nacional de Vigilância Sanitária (Anvisa), o papel do Poder Judiciário e os passaportes de imunidade. Responderam à pesquisa 254 dos 1.300 juízes federais atuantes em todos os estados. A maioria dos entrevistados possui bacharelado ou especialização (59,1%) e atua como juiz há mais de 10 anos (63,8%). Grande parte dos juízes (87,7%) concorda com a obrigatoriedade da vacina para adultos e crianças e adolescentes (66,1%). Mais de 75% dos juízes acreditam que todos os níveis de governo podem impor sanções para aqueles que se recusam a ser vacinados. 93% dos juízes confiam na vacinação, 56,1% rejeitam movimentos antivacinação e 75,2% acreditam que as ações da Anvisa devem ser respeitadas. As ações do Judiciário referentes à pandemia da COVID-19 são aprovadas por 62,6% dos juízes e 88,2% apoiam passaportes de imunidade. Existe uma ligação direta entre a vacinação obrigatória, a confiança na vacina e a adoção de passaportes de imunidade. A maioria dos juízes federais concorda com a obrigatoriedade da vacina para crianças e adultos, apoia a aplicação de sanções no caso de recusa de vacinação, desaprova movimentos antivacinação, concorda com as ações da Anvisa e apoia a intervenção do Judiciário em relação à pandemia da COVID-19.

Resumen: El objetivo fue analizar la visión de los jueces federales brasileños sobre las implicaciones de la vacunación contra la COVID-19. Se realizó un estudio con jueces federales brasileños, quienes recibieron una encuesta elaborada con preguntas de opción múltiple sobre la vacunación contra la COVID-19, abordando temas como su obligatoriedad, aplicación de medidas coercitivas, reticencia a vacunarse, grupos prioritarios, acciones de Agência Nacional de Vigilancia Sanitaria (Anvisa), el papel del Poder Judicial y los pasaportes de inmunidad. Respondieron a la encuesta 254 de los 1.300 jueces federales que actúan en todos los estados. La mayoría de los encuestados tiene título de licenciatura o especialización (59,1%) y actúa como juez desde hace más de 10 años (63,8%). Gran parte de los jueces (87,7%) está de acuerdo con la obligatoriedad de la vacuna para adultos y niños y adolescentes (66,1%). Más del 75% de los jueces cree que todos los niveles de gobierno pueden imponer sanciones a quienes se nieguen a vacunarse. El 93% de los jueces confía en la vacunación, el 56,1% rechaza los movimientos antivacunas y el 75,2% cree que las acciones de Anvisa deben ser respetadas. Las acciones del Poder Judicial con relación a la pandemia de COVID-19 son aprobadas por el 62,6% de los jueces, y el 88,2% apoya los pasaportes de inmunidad. Existe un vínculo directo entre la vacunación obligatoria, la confianza en la vacuna y la adopción de pasaportes de inmunidad. La mayoría de los jueces federales está de acuerdo con la vacunación obligatoria para niños y adultos, apoya la aplicación de sanciones en caso de rechazo de la vacunación, desaprueba los movimientos antivacunas, está de acuerdo con las acciones de Anvisa y apoya la intervención del Poder Judicial con relación a la pandemia de COVID-19.

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report / Uma rara mutação missense no gene LMNA causando um fenótipo grave de displasia mandibuloacral tipo A: relato de caso

ABSTRACT Objective: To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T). Case description: A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips, generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness and bone reabsorption in the terminal phalanges. In dermatological examination, atrophic skin, loss of cutaneous elasticity, hyperkeratosis, dermal calcinosis, and hyperpigmented and hypochromic patches were observed. Radiology exams performed showed bilateral absence of the mandibular condyles, clavicle resorption with local amorphous bone mass confluence with the scapulae, shoulder joints with subluxation and severe bone dysplasia, hip dysplasia, osteopenia and subcutaneous calcifications. Comments: MADA is a rare autosomal recessive disease caused by mutations in LMNA gene. It is characterized by craniofacial deformities, skeletal anomalies, skin alterations, lipodystrophy in certain regions of the body and premature ageing. Typical MADA is caused by the p.R527H mutation in the LMNA gene. However, molecular analysis performed from oral epithelial cells obtained from the patient showed the rare mutation c.1579C>T, p. R527C in the exon 9 of LMNA. This is the sixth family identified with this mutation described in the literature.

RESUMO Objetivo: Relatar o caso de uma jovem que apresentava um fenótipo grave de displasia mandibuloacral tipo A (MADA) caracterizado por alterações osteolíticas proeminentes e defeitos ectodérmicos, associados a uma rara mutação homozigótica missense no gene LMNA (c.1579C>T). Descrição do caso: Uma menina de seis anos foi avaliada durante hospitalização apresentando os seguintes sinais dismórficos: alopecia subtotal, fácies dismórfica com olhos proeminentes, micrognatia e retrognatia acentuada, nariz pequeno e adunco, dentes apinhados e lábios finos, lipodistrofia generalizada, ombros estreitos e inclinados, rigidez articular e reabsorção óssea nas falanges terminais. Ao exame dermatológico, observou-se pele atrófica, perda da elasticidade cutânea, hiperceratose, calcinose dérmica e manchas hiperpigmentadas e hipocrômicas. Exames radiológicos realizados mostraram ausência de côndilos mandibulares bilaterais, reabsorção da clavícula com massa óssea amorfa local confluindo com as escápulas, articulações do ombro com subluxação e displasia óssea severa, com displasia coxofemoral, osteopenia e calcificações subcutâneas. Comentários: MADA é uma doença autossômica recessiva rara causada por mutações no gene LMNA. Caracteriza-se por deformidades craniofaciais, anomalias esqueléticas, alterações cutâneas, lipodistrofia em determinadas regiões do corpo e envelhecimento precoce. MADA típica é causada pela mutação p.R527H no gene LMNA. No entanto, a análise molecular realizada com células epiteliais orais obtidas da paciente mostrou a mutação rara c.1579C>T, p. R527C no exon 9 do gene LMNA. Esta é a sexta família identificada com essa mutação descrita na literatura.

Evaluation of Brazilian women's participation in the CNPQ in the field of medical research / Avaliação da participação das mulheres brasileiras no CNPQ na área de pesquisa médica

Abstract Introduction: Brazilian scientific production has shown substantial growth and achieved international visibility. However, in general, the participation of women in scientific activities remains limited. Objective: This study aimed to evaluate the indicators of scientific productivity of women fellows of the Council for Scientific and Technological Development (CNPq) in the field of Medicine. Method: This cross-sectional study was conducted on 541 (211 women, 39%) researchers registered as recipients of CNPq research productivity (PQ) scholarships in Medicine according to a list provided in December 2022. Results: There was a predominance of male researchers (n=330; 61%). In both the male and female groups, most researchers were at level 2, with 62.5% women and 47.2% men (p=0.018). All 211 female PQ scholars were distributed among 37 different institutions and published 34,969 papers in scientific journals, averaging 165.7 articles per researcher. In the last five years of the study period (from 2018 to 2022), 9,679 papers were published. Over their careers, the 211 researchers supervised 5,440 undergraduate research students, 4,144 master's degree students, and 2,923 PhD candidates. There was a significant difference between the scholarship levels for the development of human resources in undergraduate research (p=0.040), master's degree (p=0.027), and PhD. (p<0.001). Conclusion: There are still less women participating in CNPq medical research than men. However, we observed a substantial participation of women in all the assessed items, including technical and scientific production and the human resources training.

Resumo Introdução: A produção científica brasileira apresentou crescimento substancial e visibilidade internacional. Contudo, em geral, a participação das mulheres em atividades científicas ainda é limitada. Objetivo: Este estudo objetivou avaliar os indicadores de produtividade científica de mulheres bolsistas do Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) na área de medicina. Método: Foi realizado estudo transversal com 541 (211 mulheres, 39%) pesquisadores cadastrados como bolsistas de produtividade em medicina do CNPq conforme lista disponibilizada em dezembro de 2022. Resultado: Houve predomínio de pesquisadores do sexo masculino (n = 330; 61%). Em ambos os grupos, masculino e feminino, a maioria dos investigadores encontra-se no nível 2, sendo 62,5% mulheres e 47,2% homens (p = 0,018). Todos os 211 pesquisadores foram distribuídos em 37 instituições diferentes e publicaram 34.969 artigos em revistas científicas, com média de 165,7 artigos por pesquisador. De 2018 a 2022, foram publicados 9.679 artigos. Ao longo de suas carreiras, os 211 pesquisadores orientaram 5.440 alunos de iniciação científica, 4.144 alunos de mestrado e 2.923 alunos de doutorado. Houve diferença significativa entre os níveis de bolsas quanto ao desenvolvimento de recursos humanos em iniciação científica (p = 0,040), mestrado (p = 0,027) e doutorado (p < 0,001). Conclusão: Ainda há menor participação de mulheres do que de homens entre os pesquisadores médicos do CNPq. Contudo, foi possível observar participação substancial das mulheres em todos os quesitos avaliados, incluindo a produção técnica e científica e a formação de recursos humanos.

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.

Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.

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.

Multiple odontogenic keratocysts in a patient with Lowe syndrome: a first case report and literature review.

Lowe syndrome (LS) is a rare disease (1:500,000) with X-linked recessive inheritance involving the kidneys, eyes, and nervous system. A Mexican 25-year-old male patient presented for diagnosis of multiple radiolucent lesions observed on routine radiographic examination. General aspects revealed cognitive delay, eye alterations, and kidney involvement, which support the diagnosis of LS. Radiolucent well-delimited lesions were observed in both mandibular angle and symphysis. Under general anesthesia, incisional biopsy and decompression were performed. Histological aspects led to diagnosing odontogenic keratocyst (OKC) for all lesions. The lesions in the right and left mandibular angles were decompressed, and the symphyseal lesion was enucleated. A 2-month follow-up shows the bone healing process. There are few reports detailing oral findings in LS. Here, we reported the first case of multiple OKC in a patient with LS. In addition, we performed a literature review on odontogenic lesions in patients affected by LS.

Maternal consumption of caffeine and second-hand tobacco smoke as risk factors for the development of oral clefts.

OBJECTIVE: The aim of this case-control study was to investigate environmental factors, such as caffeine, folic acid, nutritional iron supplementation, multivitamin complexes, alcohol, and tobacco (second-hand smoking), which have been described as risk factors for the development of oral clefts. METHODS: This case-control study employed convenience sampling and included 409 mothers: 132 with children with oral clefts (cases) and 277 with children without oral clefts (controls). The age range of the children in both groups was 0 to 2 years. A questionnaire was administered to each mother to inquire about their habits and food consumption during the first trimester of pregnancy. RESULTS: Folic acid supplementation was observed in 116 (87.8%) of the case group (p < 0.001) and 271 (97.8%) of the control group. Regarding the use of ferrous sulfate, 114 (86.3%) of the case group and 271 (97.8%) of the control group reported using it. In the case group, 84 (63.6%) mothers reported being exposed to second-hand smoke, and 5 (3.7%) reported alcohol consumption (p = 0.797). In terms of caffeine consumption, 127 mothers (95.4%) in the case group consumed it (p = 0.13), while 247 (88.8%) reported consumption in the control group. CONCLUSIONS: The results suggest a direct relationship between secondhand smoke, alcohol consumption, and the lack of maternal supplementation with oral clefts.

Isolated nonsyndromic cleft palate: multicenter epidemiological study in the Brazil.

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.

The continuous increase in the number of systemic lupus erythematosus cases in Brazil in the COVID-19 era.

This study aims to reevaluate and compare the data from the Brazilian Unified Health System (SUS) on the number of diagnoses of systemic lupus erythematosus (SLE) in the pre-pandemic period with those in the pandemic period, as well as to compare the first year (2020) of the COVID-19 pandemic in Brazil with the last year (2021), to update the data, and to verify whether SLE disease control measures were effective in 2021. There was a consistent and significant increase in the incidence of SLE cases all over Brazil between the first and second pandemic years and between the pre-pandemic triennium and the second pandemic year. Therefore, it is inescapable to have larger clinical studies with different populations to better understand the relationship between these two conditions and find measures to improve the control of this disease.

Ethnic Differences in the Brazilian Population Influence the Impact of BMP4 Genetic Variants on Susceptibility of Nonsyndromic Orofacial Clefts.

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.