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The aim of this study was to characterize the oral alterations in patients with the congenital syndrome caused by Zika virus infection (CZS).Ten children with CZS from the Association of Mothers of Microcephaly, Montes Claros, Minas Gerais State, Brazil were included. Data collection consisted of an interview with the parents, intraoral examination, and panoramic radiography.Oligodontia was found in 2 children. The first child, a 3-year-old boy, had 12 dental absences (2 primary maxillary lateral incisors, 2 primary mandibular lateral incisors, 2 primary maxillary canines, 1 primary mandibular canine, 1 primary maxillary first molar, 2 primary mandibular second molars, and 2 primary maxillary second molars), and the second child, a 5-year-old boy, showed 15 missing teeth (4 primary central incisors, 1 primary maxillary lateral incisor right, 2 primary mandibular lateral incisors, 2 primary maxillary canines, 1 primary mandibular canine, 1 primary mandibular first molar, and 4 primary second molars).This study is the first report of oligodontia in Brazilian patients with CZS. Further studies with CZS patients are needed to better understand the occurrence and the association between Zika virus and oligodontia.

Objective This study aimed to correlate the prevalence of iron deficiency anemia and breastfeeding with orofacial clefts in children. Design Data on the participant profile, presence and type of the cleft lip and/or palate (CL/P), and records on anemia and breastfeeding were collected from patients’ charts, and submitted to statistical analysis by χ2 test ( p Results Two-hundred and ten files were divided according to: CL/P presence (cleft group; n = 132) or absence (control group; n = 78). Group CL/P was subdivided according to the type of cleft: CL/P-I (cleft lip; n = 35); CL/P-II (cleft lip and palate; n = 45); CL/P-III (cleft palate; n = 43); and CL/P-IV (rare orofacial clefts; n = 9). Group CL/P had significantly more records on anemia ( p = .016) and fewer records on breastfeeding (PConclusions Thus, it is suggested that the breastfeeding process is more complex, and the history of anemia is more frequent, in children with cleft lip and palate or rare orofacial clefts than in children without clefts.

Objective The aim of systematic review was to describe the phenotypes and molecular profiles of syndromes with gingival fibromatosis (GF). Methods A comprehensive search of PubMed, LILACS, Livivo, Scopus, and Web of Science was conducted using key terms relevant to the research questions and supplemented by a gray literature search. The Methodological Quality and Synthesis of Case Series and Case Reports in association with the Case Series and Prevalence Studies from the Joanna Briggs Institute critical appraisal tools were used for the risk of bias. We followed the PRISMA checklist guidelines. Results Eighty-four studies reporting GF as an oral manifestation of a syndrome were identified in this review. Enamel renal syndrome was the most frequently reported syndrome with GF, represented by 54 individuals in 19 studies, followed by Zimmermann-Laband syndrome with 24 individuals in 15 studies and Costello syndrome, which was presented in a case series study with 41 individuals. Among reported cases, other clinical manifestations such as hypertrichosis, ectopic gingival calcification, and cherubism were described. Conclusions The results emphasize the need of systematic oro-dental-facial phenotyping for future descriptions as well as further molecular analysis in order to better understand the occurrence of syndromic GF.

Obesity is a well-recognized risk factor for critical illness and death among adult patients with SARS-CoV-2 infection.This study aimed to characterize the clinical outcomes and risk factors of death related to obesity in a cohort of hospitalized paediatric patients with COVID-19.We performed an analysis of all paediatric patients with obesity and COVID-19 registered in SIVEP-Gripe, a Brazilian nationwide surveillance database, between February 2020 and May 2021. The primary outcome was time to death, which was evaluated by using cumulative incidence function.Among 21 591 hospitalized paediatric patients with COVID-19, 477 cases (2.2%) had obesity. Of them, 71 (14.9%) had a fatal outcome as compared with 7.5% for patients without obesity (hazard ratio [HR] = 2.0, 95% confidence interval [CI] 1.59-2.53, p 0.001). After adjustment, the factors associated with death among patients with obesity were female gender (HR = 2.8, 95% CI 1.70-4.61), oxygen saturation 95% (HR = 2.58, 95% CI 1.38-4.79), presence of one (HR = 1.91, 95% CI 1.11-3.26), and two or more comorbidities (HR = 4.0, 95% CI 2.21-7.56).Children and adolescents with obesity had higher risk of death compared with those without obesity. The higher risk of death was associated with female gender, low oxygen saturation at admission, and presence of other comorbidities.

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.752GC (p.S251T) and c.848CT (p.P283L) heterozygous missense mutations and the c.825CT (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.604CT (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.

Diabetes has been recognized as a major comorbidity for COVID-19 severity in adults. This study aimed to characterize the clinical outcomes and risk factors for COVID-19-related death in a large cohort of hospitalized pediatric patients with diabetes.We performed an analysis of all pediatric patients with diabetes and COVID-19 registered in SIVEP-Gripe, a Brazilian nationwide surveillance database, between February 2020 and May 2021. The primary outcome was time to death, which was evaluated considering discharge as a competitive risk by using cumulative incidence function.Among 21,591 hospitalized pediatric patients with COVID-19, 379 (1.8%) had diabetes. Overall, children and adolescents with diabetes had a higher prevalence of ICU admission (46.6% vs. 26%), invasive ventilation (16.9% vs. 10.3%), and death (15% vs. 7.6%) (all P 0.0001). Children with diabetes had twice the hazard of death compared with pediatric patients without diabetes (Hazard ratio [HR] = 2.0, 95% CI, 1.58-2.66). Among children with diabetes, four covariates were independently associated with the primary outcome, living in the poorest regions of the country (Northeast, HR, 2.17, 95% CI 1.18-4.01, and North, (HR 4.0, 95% CI 1.79-8.94), oxygen saturation 95% at admission (HR 2.97, 95% CI 1.64-5.36), presence of kidney disorders (HR 3.39, 95% CI 1.42-8.09), and presence of obesity (HR 3.77, 95% CI 1.83-7.76).Children and adolescents with diabetes had a higher risk of death compared with patients without diabetes. The higher risk of death was associated with clinical and socioeconomic factors.

To summarize the clinical evidence on the relationship between cancer and non-syndromic oral cleft (NSOC).The review was reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist, and a literature search was conducted in six databases and gray literature. Studies published in any language mentioning cancer in patients with NSOC and their relatives and NSOC in patients with cancer and their relatives were included. Risk of bias was assessed using the Joanna Briggs Institute appraisal tool. The certainty of the evidence was evaluated using the GRADE (Grading of Recommendation, Assessment, Development, and Evaluation) assessment. After a 2-step selection process, 33 studies were included: 17 case-control studies, 13 cross-sectional studies, and 3 case reports.The study evaluated 206,096 patients from 20 countries. Of these, 0.35% of patients with cancer (95% CI: 0.0%-1.1%; IOur findings demonstrate an increased risk of cancer in relatives of patients with NSOC and that relatives of patients with leukemia were more frequently affected by NSOC. Together, these findings can help guide cancer screening in patients with NSOC and their relatives and shed light on the risk of NSOC in families with a history of cancer.

The aim of this study was to describe the oral health services offered by the Unified Health System in the northern macro-region of Minas Gerais, Brazil, during the COVID-19 pandemic. This was an observational, cross-sectional and descriptive study. Data collection took place between August and September 2020 through the completion of online questionnaires by oral health managers in the northern municipalities of Minas Gerais and by consultation of information available in the Special Epidemiological Bulletin Coronavirus North Macro-region n° 14. After collection, data were transferred to SPSS® (Statistical Package for the Social Sciences for Windows, version 24.0). Analyses were performed using frequency, mean, standard deviation and percentages. It was found that all included municipalities suspended elective treatments and maintained emergency dental care at all levels of care. In 62.5% of municipalities there were oral health professionals contaminated by COVID-19. Oral health teams implemented specific interventions to address the pandemic,with the most frequent being tele-orientation (74.7%), use of sanitary barriers (72%), and telemonitoring (68%). At the beginning of the pandemic, 62.5% of municipalities lacked personal protective equipment. Comsidering these results, it was found that the COVID-19 pandemic impacted the supply of dental services in northern Minas Gerais due to the suspension of elective care, contamination of professionals, lack of personal protective equipment, and development of new interventions. Thus, oral health teams had to adapt to new contexts of health interventionsto face COVID-19 and maintain dental care services.

Based on an extensive analysis of public databases, we provide an overview of the global scientific output and describe the dynamics of the profound changes in the scientific enterprise during the last decades. The analysis included the scientific production of 53 countries over the 1996-2018 period. During this period, the production of articles per year has tripled. There was a strong correlation between the growth of the global gross domestic product and the increase in the number of articles (R2 = 0.973, P

This review outlines the historical perspective, status, and future challenges of oral medicine (stomatology) in Brazil based on the records of the Brazilian Society of Stomatology and Oral Pathology (SOBEP) and the Brazilian Federal Dental Council as well as expert evidence input from academic leaders from 3 different generations of Brazilian oral medicine specialists. The beginning of oral medicine in Brazil dates to 1969, followed by the organization of SOBEP in 1974; however, official recognition as an independent specialty was achieved more recently within the Brazilian Federal Dental Council in 1992. After a 50-year maturation period of oral medicine in Brazil in terms of specialty crystallization across dentistry, medicine, and research, it is now time to follow the historical trends of the specialty internationally and establish a standard curriculum at a post-graduate level that will lead to uniformity of training for oral medicine in Brazil.

We analyzed the distribution characteristics of the scientific production of Brazilian dentistry researchers of the Brazilian National Council for Scientific and Technological Development. The Lattes curriculum data of 211 researchers from Oral Pathology, Oral Surgery, and Oral Medicine fields were included (2018-2020). Over their academic career, 39 researchers published 7,555 papers (average, 175 articles/researcher); 3,876/7,555 papers were indexed in the Web of Science. During 2018-2020, 1,440/7,555 (19%) papers were published. Brazilian dental researchers contribute significantly to international research by participating in scientific journals' editorial boards, evaluating research promotion agencies, training researchers, and contributing to scientific and technological development.

BACKGROUND: The COVID-19 pandemic has raised challenges in adapting to teaching and learning methods in dental education. OBJECTIVE: This study aimed to evaluate the impact of the COVID-19 pandemic on the academic activities of undergraduate (UDG) and graduate (GD) dental students in Brazil. Additionally, students’ perceptions and attitudes toward teaching activities during this period were analyzed. METHODS: A nationwide cross-sectional survey was conducted with a sample of Brazilian UDG and GD dentistry students. Data were collected in 2020 through an online, self-administered, and anonymous questionnaire, which comprised 26 questions related to demographic data, activities of the college, family and individual student income, and attitudes and perceptions about e-learning during the pandemic. The data were tabulated and analyzed using descriptive statistics. RESULTS: The sample included 1,166 students (779 UDG and 387 GD). Among these, 425 (54.6%) UDG and 270 (69.8%) GD students remotely participated in teaching activities, of which 42.6% of the UDG considered their performance in e-learning to be bad or very bad and 49.8% of the GD regarded it as good or excellent. The survey also showed that 354 (45.4%) UDG and 102 (26.4%) GD expressed a desire to discontinue the course following the outbreak of the pandemic. Among the GD, 225 (58.4%) said that their experiments were completely interrupted. CONCLUSIONS: This study reveals the poor perception and performance of dental students regarding e-learning. Additionally, the findings suggest a negative impact of the pandemic on dental education in Brazil. Effective measures should be taken to mitigate these significant consequences.

The world is looking forward to a prompt response by the scientific community in order to overcome the first pandemic of the 21st century. This study aimed to provide an overview of scientific output on COVID-19 during its first year. We assembled information regarding 60,830 articles related to COVID-19 indexed in the WoS database from January 24 to December 13, 2020. Only 4 countries accounted for about 60% of the articles (USA, China, Italy, and England) and 12 countries accounted for about 95% of the world scientific output on COVID-19 (USA, China, Italy, England, India, Canada, Germany, Spain, Australia, Brazil, Iran, and Turkey). 25 research centers around the world contributed with more than 500 papers on COVID-19. Papers were scattered throughout 6,133 journals, with 12 journals with > 250 articles. 20 articles (0.03%) have already received more than the 1,000 citations. The response of the scientific endeavor to this acute global public health emergency has been fast and robust. The overview provided by the analysis of the scientific response to the pandemic may contribute to further studies aiming to evaluate the impact and changes in the scientific endeavor for the next years in light of the forthcoming new world framework.

OBJECTIVE To investigate the association of single-nucleotide polymorphisms (SNP) in grainyhead-like 3 (GRHL3) and to verify its possible interactions with others genes responsible for craniofacial development in the risk of non-syndromic oral cleft (NSOC). METHODS Applying TaqMan allelic discrimination assays, we evaluated GRHL3 SNPs (rs10903078, rs41268753, and rs4648975) in an ancestry-structured case-control sample composed of 1,127 Brazilian participants [272 non-syndromic cleft palate only (NSCPO), 242 non-syndromic cleft lip only (NSCLO), 319 non-syndromic cleft lip and palate (NSCLP), and 294 healthy controls]. Additionally, SNP-SNP interactions of GRHL3 and previously reported variants in FAM49A, FOXE1, NTN1, and VAX1 were verified in non-syndromic cleft lip with or without cleft palate (NSCL ± P). To eliminate false-positive associations, Bonferroni correction or 1,000 permutation method was applied. RESULTS The multiple logistic regression analysis showed that the CC genotype of rs10903078 (p = .03) and the haplotype C-C formed by the SNPs rs10903078 and rs41268753 (p = .04) were associated with NSCLO, but the p-values did not withstand Bonferroni correction. However, SNP-SNP test revealed significant interactions between GRHL3 SNPs and FAM49A (rs7552), FOXE1 (rs3758249), VAX1 (rs7078160 and rs751231), and NTN1 (rs9891446). CONCLUSIONS Our results confirm the importance of GRHL3 and its interactions with previously NSOC-associated genes, including FAM49A, FOXE1, NTN1, and VAX1, in the pathogenesis of NSOC in the Brazilian population.

Papillon-Lefevre syndrome (PLS; MIM#245000) is a rare recessive autosomal disorder characterized by palmar and plantar hyperkeratosis, and aggressively progressing periodontitis leading to premature loss of deciduous and permanent teeth. PLS is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. PLS clinical expressivity is highly variable and no consistent genotype-phenotype correlation has been demonstrated yet. Here we report the clinical and genetic features of five PLS patients presenting a severe periodontal breakdown in primary and permanent dentition, hyperkeratosis over palms and soles, and recurrent sinusitis and/or tonsillitis. Mutation analysis revealed two novel homozygous recessive mutations (c.947T>C and c.1010G>C) and one previous described homozygous recessive mutation (c.901G>A), with parents carrying them in heterozygous, in three families (four patients). The fourth family presented with the CTSC c.628C>T mutation in heterozygous, which was inherited maternally. Patient carrying the CTSC c.628C>T mutation featured classical PLS phenotype, but no PLS clinical characteristics were found in his carrier mother. All mutations were found to affect directly (c.901G>A, c.947T>C, and c.1010G>C) or indirectly (c.628C>T, which induces a premature termination) the heavy chain of the cathepsin C, the region responsible for activation of the lysosomal protease. Together, these findings indicate that both homozygous and heterozygous mutations in the cathepsin C heavy chain domain may lead to classical PLS phenotype, suggesting roles for epistasis or gene-environment interactions on determination of PLS phenotypes.

How the COVID-19 pandemic is affecting the incidence of syphilis remains unclear.1–4 We extracted data from the Brazilian Unified Health System public disease notification database to compare the mean number of syphilis cases reported from March to December 2017–2019 with those reported the same period of 2020. In all Brazilian macroregions, the incidence rates of syphilis per million population increased significantly during the COVID-19 pandemic, reaching …

INTRODUCTION: Coronavirus disease 2019 (COVID-19) has limited the access of patients with Hansen's disease (HD) to care due to changes in routine health services. METHODS: To ascertain this, we compared the number of HD cases diagnosed before and after the COVID-19 pandemic. RESULTS: The decrease in HD cases in Brazil reached 18,223 (-48.4%), corresponding to an average reduction of 1,518 cases per month during the COVID-19 pandemic. CONCLUSION: Therefore, effective measures should be implemented to minimize the damage and the consequent negative health impact of COVID-19 on the care of HD patients.

Summary Background COVID-19 is usually less severe and has lower case fatality in children than in adults. We aimed to characterise the clinical features of children and adolescents hospitalised with laboratory-confirmed SARS-CoV-2 infection and to evaluate the risk factors for COVID-19-related death in this population. Methods We did an analysis of all patients younger than 20 years who had quantitative RT-PCR-confirmed COVID-19 and were registered in the Influenza Epidemiological Surveillance Information System (SIVEP-Gripe, a nationwide surveillance database of patients admitted to hospital with severe acute respiratory disease in Brazil), between Feb 16, 2020, and Jan 9, 2021. The primary outcome was time to recovery (discharge) or in-hospital death, evaluated by competing risks analysis using the cumulative incidence function. Findings Of the 82 055 patients younger than 20 years reported to SIVEP-Gripe during the study period, 11 613 (14·2%) had available data showing laboratory-confirmed SARS-CoV-2 infection and were included in the sample. Among these patients, 886 (7·6%) died in hospital (at a median 6 days [IQR 3–15] after hospital admission), 10 041 (86·5%) patients were discharged from the hospital, 369 (3·2%) were in hospital at the time of analysis, and 317 (2·7%) were missing information on outcome. The estimated probability of death was 4·8% during the first 10 days after hospital admission, 6·7% during the first 20 days, and 8·1% at the end of follow-up. Probability of discharge was 54·1% during the first 10 days, 78·4% during the first 20 days, and 92·0% at the end of follow-up. Our competing risks multivariate survival analysis showed that risk of death was increased in infants younger than 2 years (hazard ratio 2·36 [95% CI 1·94–2·88]) or adolescents aged 12–19 years (2·23 [1·84–2·71]) relative to children aged 2–11 years; those of Indigenous ethnicity (3·36 [2·15–5·24]) relative to those of White ethnicity; those living in the Northeast region (2·06 [1·68–2·52]) or North region (1·55 [1·22–1·98]) relative to those in the Southeast region; and those with one (2·96 [2·52–3·47]), two (4·96 [3·80–6·48]), or three or more (7·28 [4·56–11·6]) pre-existing medical conditions relative to those with none. Interpretation Death from COVID-19 was associated with age, Indigenous ethnicity, poor geopolitical region, and pre-existing medical conditions. Disparities in health care, poverty, and comorbidities can contribute to magnifying the burden of COVID-19 in more vulnerable and socioeconomically disadvantaged children and adolescents in Brazil. Funding National Council for Scientific and Technological Development, Research Support Foundation of Minas Gerais.

The comprehensive care and treatment for cancer patients in Brazil, regulated by the National Cancer Prevention and Control Policy, is provided by Brazilian Unified Healthcare System (SUS) in certified health institution. Due the COVID-19 pandemic, several restrictive measures have been implemented by the State federation's governments, and cancer diagnosis reference centers were also impacted by these measures. Thus, this study aimed to compare SUS-oriented cancer diagnosis in Brazil before and during the pandemic so far. The average number of cancer diagnoses has dropped considerably in all Brazilian Regions since the pandemic period started. The number of new cancer cases has plunged in all regions, ranged from -24.3% in the North to -42.7% in Northeast region. The overall Brazilian average deficit reached 35.5%, corresponding to about 15,000 undiagnosed cases of cancer monthly. The pandemic period has dramatically reduced the diagnosis of new cases of cancer in Brazil, since consultations in public health services were compromised by restrictive measures. Therefore, effective measures must be urgently put in action in order to minimize the damage, and consequently, the negative health impacts caused by the COVID-19 pandemic in the care of cancer patients.

Kawasaki disease (KD) is a vasculitis with predilection for coronary arteries. Due to a lack of reliable confirmatory laboratory tests, the diagnosis of KD is based on a characteristic pattern of clinical findings that appear in a typical temporal sequence. The diagnostic criteria have been periodically modified and the American Heart Association has proposed the most recent guidelines for its diagnosis. However, patients may have incomplete or atypical forms of KD and diagnosis can often be difficult. Because oropharyngeal manifestations are a common and important feature for diagnosing KD and recent studies have hypothesized a possible association between KD and the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), in this review we highlight the importance of dentists in the diagnosis of KD and its potential association with SARS-CoV-2.

International audience; Coronavirus 2019 (COVID-19), caused by the pathogen SARS-CoV-2, was declared a pandemic in March 2020. Recently, studies have discussed reports of patients infected with COVID-19 associated with vesicular manifestations of Herpes Zoster. The objective of this study was to compare the data from the Unified Health System (SUS) on the number of diagnoses of Herpes Zoster from March to August from 2017 to 2019, with the same period in 2020, in the five Brazilian regions (North, Northeast, Southeast, South, and Midwest). The data were extracted from the public database (DATASUS) of Brazil's Ministry of Health. The data showed an increase in the number of Herpes Zoster diagnoses over the years and the negative impact from the COVID-19 disease, revealing an average increase corresponding to an extra 10.7 cases per million inhabitants during the pandemic in all Brazilian Regions. Therefore, although the association between HZ and COVID-19 is not well established, we observed in this study an increase in HZ cases during the COVID-19 pandemic, which suggests a correlation between these diseases.

The newly emerged Coronavirus disease 2019 (COVID‐19) is an infectious disease that has spread rapidly throughout the world. The most common signs and symptoms are fever, dry cough and shortness of breath which can progress to severe viral pneumonia and multi‐organ failure in susceptive patients (Chen et al. 2020, Wang et al. 2020). Droplet transmission and person‐person transmission appear to be the main route of transmission of COVID‐19, however asymptomatic patients are also carriers of the virus (Rothe et al. 2020).

Due to the COVID-19 pandemic crisis, many dental schools and instructors are rethinking the way they teach and interact with students. New perspectives regarding a change in face-to-face activities, social isolation and the reformulation of clinical activities result in a transition toward e-learning and e-teaching processes. In this review, we discuss some favorable aspects and difficulties associated with virtual teaching and learning, searching for available tools and techniques as well as new perspectives.

Coronavirus disease 19 (Covid‐19) was declared a pandemic by the World Health Organization on March 11th, 2020 (https://www.who.int/emergencies/diseases/novel-coronavirus-2019/events-as-they-happen). As of May 19th, 2020, approximately 4,731,458 cases of contamination and 316,169 deaths from Covid‐19 were recorded (https://who.sprinklr.com).

The Brazilian scientific community and health care workers are working hard to provide support for the political health measures to deal with this unprecedented crisis of the COVID-19 pandemic. Paradoxically, while the society is looking forward for an immediate response of the scientific community, Brazilian scientists are facing a dramatic reduction in financial support for research and graduate programs.

To the Editor, In this period of the COVID-19 pandemic, thousands of health schools have bolted into action to maintain theoretical learning activities. With the help of information technology and pedagogical sectors, online manuals and guides are being created so that professors and students have access to them in real-time. The field of medicine has not been any different. Electronic platforms, video conferencing rooms, and social media are being used for daily teaching purposes. Electronic educational platforms are the official [...]

Objective. Digit ratio (2D : 4D) has been suggested as a biomarker for prenatal hormone activity and has been linked to several types of cancer. This study investigated the possible correlation between 2D : 4D ratios and acute lymphoblastic leukemia. Methods. A case-control study was performed with Brazilian subjects. Direct measurements of the lengths of index and ring fingers of both hands of patients with acute lymphoblastic leukemia (n=43) and controls matched by age and gender (n=86) were obtained by using a digital vernier caliper. Mean ratios between the second and fourth digits were compared. Data were analyzed by Student’s t-test with a significance level of 5%. Results. No significant difference was found between the mean digit ratios of the right and left hands between the groups for any analysis (p>0.05), neither for the whole sample nor for the distribution by gender. Conclusions. We observed that patients with acute lymphoblastic leukemia do not have a different digit pattern when compared with unaffected individuals, which may suggest that exposure to prenatal sex hormone is similar between groups.

Introduction: Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. Objective: In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. Methods: We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS® version 19.0, by applying Chi-Square tests. Values with p

Jalili syndrome (JS) is an autosomal recessive disease characterized by a combination of cone-rode retinal dytrophy (CRD) and amelogenesis imperfect (AI). Mutations in cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene cause JS. Here we described 2 families (3 members) affected by JS. In the first family, JS was caused by the homozygous p.Leu324Pro (c.971T > C) missense mutation and the affected patient developed both CRD and AI. In the second family, a specific combination of a compound heterozygous mutation was found – the p.Leu324Pro (c.971T > C) missense transition and the novel p.Tyr581* (c.1743C > G) nonsense mutation. The proband showed CRD and AI, but her father just developed eye alterations. Together, these findings suggest that the p.Leu324Pro mutation in homozygosis induces a complete phenotype with both CRD and AI, but in heterozygosis and in composition with the novel p.Tyr581* nonsense mutation in CNNM4 promotes variable clinical expressivity, particularly with lack of dental phenotypes. These different phenotypes could be explained by deletions affecting the proband's homologous allele, epistasia or interactions with environmental factors leading to residual activity of protein.

The population of Brazil is highly admixed, with each individual showing variable levels of Amerindian, European and African ancestry, which may interfere in the genetic susceptibility of known risk loci to nonsyndromic cleft lip with or without cleft palate (NSCL±P). Here, we investigated 5 reported genome-wide loci for NSCL±P in an ancestry-structured case-control study containing 1697 Brazilian participants (831 NSCL±P and 866 healthy controls). SNPs rs7552 in 2q24.2, rs8049367 in 16p13.3, rs1880646, rs7406226, rs9891446 in 17p13, rs1588366 in 17q23.2 and rs73039426 in 19q13.11 were genotyped using TaqMan allelic discrimination assays and genomic ancestry was estimated using a panel of 40 biallelic short insertion/deletion polymorphic markers informative of the Brazilian population. Logistic regression analysis of the single-markers revealed rs7552 in 2p24.2 as a susceptibility risk marker for NSCL±P, yielding an odds ratio (OR) of 1.71 (95% confidence interval (CI): 1.31-2.24, P = 9 × 10-6 ) in the homozygous state. Several SNP-SNP interactions containing rs7552 reached significance after adjustment for multiple tests (both Bonferroni assumption and 1000 permutation test), with the most significant interaction involving the 3-loci among rs7552, rs9891446 and rs73039426 (P = 6.1 × 10-9 and p1000 permutation = 0.001). Our study is the first to support the association of rs7552 in 2p24.2 with NSCL±P in the highly admixed Brazilian population.

The digital ratio between the second and fourth digits of the hands, known as 2D:4D, is sexually dimorphic. It has been suggested that a low 2D:4D indicates high exposure to prenatal testosterone and low estrogen exposure while a high 2D:4D indicates the inverse. The 2D:4D may be predictive of cancer susceptibility, and this may be particularly true in cancers that show differences between sexes in their occurrence.To conduct a systematic review of published epidemiological literature examining the association between 2D:4D and cancer.This review was carried out according to criteria recommended for the systematic review of Statement PRISMA. We enrolled 25 papers involving eleven cancer topographies with 4,569 cases and 19,416 controls from Europe, America, Asia and Australia.We noticed variations and discrepancies in the results of the association between 2D:4D and cancer among the studies, either in those that had evaluated the same or different types of cancer, or in the same or distinct lateralities. However, a high 2D:4D was considered a likely predictor of cancer risk in 11 of 25 studies, a low 2D:4D was suggested as a predictor of risk in eight papers, and five of the twenty-five studies did not demonstrate any association.Although this biomarker has the advantage of being easy to measure, it is noted that its relationship with sex hormone levels at specific stages of life has not yet been well quantified, and it has still been questioned. Hence, it is suggested that those findings from studies involving 2D:4D as a proxy for foetal hormone exposure should be interpreted with caution, as well as those studies which claim its association with cancer. Thus, this review shows the need for a greater number of epidemiological studies using more homogeneous methodology and techniques to better investigate the strength of the findings.

Background Although various genes and genomic regions were described as of susceptibility for nonsyndromic oral clefts (NOC), recent reports have demonstrated significant interethnic variations in the genetic predisposition, a situation that affects the Brazilian population, one of the most admixed populations in the world. Therefore, the purpose of this review was to describe the available information on genetic risk markers for NOC in the Brazilian population. Methods A systematic search of the literature was performed using LILACS, LIVIVO, PubMed, Scopus, and Web of Science databases, and studies that investigated genetic susceptibility markers for NOC in the Brazilian population were retrieved. Markers with enough statistical data were subjected to meta-analysis using random- or fixed-effects model with odds ratio (OR) and 95% confidence intervals (95% CI) as effect measures. Results Forty-nine studies conducted since 1999 were found, and in these 114 markers were evaluated throughout case-control or family-based approaches. Most of the studies were conducted with patients affected by nonsyndromic cleft lip with or without cleft palate (NSCL ± P), and 79 markers (69.3%) were evaluated by a single study only. Meta-analysis was performed with nine markers, and the most promising results were obtained for IRF6 (rs642961), 8q24 (rs987525 and rs1530300) and MTHFR (rs1801133), which were associated with increased risk for NSCL ± P, and for BMP4 (rs17563) that showed a protective effect for NSCL ± P. Conclusion A large number of genetic markers distributed in several genes/loci was associated with NOC in the Brazilian population, but in general the original studies included limited number of samples and unsatisfactory protocols. The classical risk markers located in IRF6 and 8q24 showed promising results as well as rs1801133 in MTHFR and rs17563 in BMP4, and they should be validated in larger and multicenter studies taking in consideration the variations in the miscegenation of Brazilian population.

Nonsyndromic oral clefts are common congenital birth defects that exhibit variable prevalence around the world, often influenced by population-dependent genetic predisposition. Few studies have been performed with nonsyndromic cleft palate only (NSCPO), limiting the knowledge of the genetic risk factors related to this type of oral cleft. Genetic variants in golgin subfamily B member 1 (GOLGB1), a gene that is essential for normal murine palatogenesis, were analyzed in this study to establish its potential association with NSCPO risk in the Brazilian population. Five tag-single nucleotide polymorphisms (SNPs) of GOLGB1 (rs1169, rs7153, rs9968051, rs9819530, and rs6794341), which capture the majority of alleles spanning within gene, were genotyped in a case-control study with 270 patients with NSCPO and 284 unrelated healthy controls. The samples were also genotyped for 40 biallelic polymorphic markers to characterize the genetic ancestry. After adjustment for co-variants, the GOLGB1 tag-SNPs and the haplotypes formed by those SNPs were not significantly associated with NSCPO in this Brazilian case-control cohort. Our results suggest that common polymorphisms of GOLGB1 are not associated NSCPO susceptibility in the Brazilian population.

Background Syphilis is a sexually transmitted disease caused by Treponema pallidum. However, there are of hematogenic and vertical transmission. All health care professionals must be aware of the manifestations of this condition, such as oral lesions. Objectives This study to analyze and compare four clinical cases of syphilis that were diagnosed based on lesions in the oral cavity with published literature. Material and Methods Four patients with a confirmed sorologic and clinical diagnosis of syphilis were examined, confirmated from manifestation of oral lesions together with analysis of serological laboratory tests and histopathological analyses. Results Lesions were found in classic sites such as lips, tongue and skin. However, there were also lesions on the hard palate, and labial commissure, which correspond to less than 5% of the syphilis oral manifestations. Conclusions The practice of unprotected oral sex may result in infection and development of syphilis. The acknowledgment of the oral manifestations of syphilis in all its period of training for health professionals is of basic importance, the association of clinical features, histopathological findings and serological tests are required to complete the diagnosis and correct treatment. Key words:Oral syphilis, treponema infections, secondary syphilis.

In this time of confinement due to COVID-19 pandemic some reflections have been made e it has never been as clear as people can benefit from science. From the simple gesture of washing your hands like many others used during the quarantine, they have been identified by previous studies. In this way, we reinforce the need to maintain investments in the science.

Made available in DSpace on 2020-12-10T16:58:07Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-09-29 Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG) Leishmaniasis is a parasitic infection transmitted by the bite of infected female sandflies. It principally affects the skin, and the frequency of mucosal involvement is about 5% to 20%. Considering the rarity of leishmaniasis affecting the upper aerodigestive tract mucosa, we evaluated the characteristics of mucocutaneous leishmaniasis and mucosal leishmaniasis and the diagnostic difficulty when the parasites are scarce in tissue samples. The clinical, histopathological, histochemical, immunohistochemical, and molecular features of 17 cases of mucocutaneous leishmaniasis and mucosal leishmaniasis were assessed. Mucosal disease was principally found in the soft palate, oropharynx, and nose, manifesting mainly as a solitary ulcer. In hematoxylin and eosin-stained sections, 10 cases revealed abundant amastigotes within the macrophages. Giemsa staining was not shown to be helpful to confirm the diagnosis in 6 cases with scarce or nondetectable amastigotes. Immunohistochemistry (IHC) showed high sensitivity by positive staining in 14 out of 17 cases (82.3%). Polymerase chain reaction was shown to be more sensitive than IHC with 13 out of 14 (92.8%) positive cases, including the 3 IHC negative cases; however, this technique is not available in many endemic regions. In summary, we suggest that the IHC is a simple technique with rapid results and relatively low cost, when compared with other laboratorial procedures; thus, IHC is a helpful tool that should be implemented in the routine diagnosis of leishmania. Univ Estadual Campinas, UNICAMP, Piracicaba, Brazil Univ Republica, Montevideo, Uruguay Univ Estadual Montes Claros, Montes Claros, MG, Brazil State Univ Sao Paulo USP, Sao Paulo, Brazil Univ Fed Juiz de Fora, Governador Valadares, MG, Brazil Univ Estadual Campinas, UNICAMP, Campinas, SP, Brazil State Univ Sao Paulo USP, Sao Paulo, Brazil FAPEMIG: APQ01122/14