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. Objetivo (MADA ectodérmicos c.1579C>T. c1579CT cCT c.1579C>T . c 1579C T C (c.1579C>T) dismórficos subtotal acentuada adunco finos generalizada inclinados terminais dermatológico observouse observou se atrófica cutânea hiperceratose hipocrômicas bilaterais escápulas severa coxofemoral subcutâneas Comentários Caracterizase Caracteriza craniofaciais esqueléticas cutâneas precoce pR527H pRH p R527H R H entanto RC literatura CT (c.1579C>T pR RH

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. Objective (MADA defects c.1579C>T. c1579CT cCT c.1579C>T . c 1579C T C (c.1579C>T) description 6yearold yearold 6 year old signs alopecia eyes retrognathia nose lips shoulders phalanges examination elasticity hyperkeratosis calcinosis observed condyles scapulae calcifications Comments gene deformities anomalies alterations ageing pR527H pRH p R527H R H However RC literature CT (c.1579C>T pR RH

Abstract This study evaluated the scientific contribution of Brazilian CNPq Research Productivity fellows (PQ) in Dentistry by areas of activity. This cross-sectional study included 217 active PQ who were grouped into six groups: (1) Biomaterials, Prosthodontics, and Restorative Dentistry; (2) Public Health and Epidemiology; (3) Oral Pathology, Stomatology, and Dental Radiology; (4) Pediatric Dentistry and Child Health; (5) Dental Clinic (Periodontics, Endodontics, Orthodontics, Oral Surgery, and Implantology), and (6) Basic Areas (Histology, Biochemistry, Molecular Biology, Physiology, Microbiology, Immunology, and Pharmacology). The PQ were predominantly male (n = 122; 56.2%), received level 2 scholarships (n = 121; 55.8%), and performed research in the Southeast region of Brazil (n = 160; 73.73%). Regarding supervision of undergraduate, master's, and PhD students, both during their entire careers and in the last 5 years, the highest average was observed for PQs in the field of Public Health and Epidemiology, the only area with higher average supervision of master's than that of undergraduate and PhD students. PQ in Public Health and Epidemiology had the highest average number of papers published over their career and in the last 5 years, followed by PQ in Pediatric Dentistry and Child Health and Dental Clinic. The high productivity of PQ is demonstrated by modern research performance indicators. Their scientific publications are indexed in bibliometric databases such as WoS, Scopus, and SciELO. Addtionally, highlighted among the PQ was the time since initiation of their scientific careers and master's and doctoral candidates trained. (PQ activity crosssectional cross sectional 21 groups 1 (1 Biomaterials Prosthodontics (2 3 (3 Pathology Stomatology Radiology 4 (4 (5 Periodontics, Periodontics (Periodontics Endodontics Orthodontics Surgery Implantology, Implantology , Implantology) 6 (6 Histology, Histology (Histology Biochemistry Biology Physiology Microbiology Immunology Pharmacology. Pharmacology . Pharmacology) n 122 56.2%, 562 56.2% 56 56.2%) 121 55.8%, 558 55.8% 55 8 55.8%) 160 73.73%. 7373 73.73% 73 73.73%) masters, masters master s, s students years indicators WoS Scopus SciELO Addtionally trained ( 12 56.2 55.8 16 737 73.73 7 56. 55. 73.7 73.

Abstract: 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.

Resumo Objetivos: investigar a prevalência de anomalias dentárias na dentição decídua completa de crianças com FL/PNS. Métodos: este estudo incluiu 75 crianças com FL/PNS e 286 controles saudáveis. Em ambos os grupos as crianças tinham dentição decídua com idade variando de 4 a 6 anos. Exame clínico, radiografias panorâmicas e periapicais foram realizadas e anomalias dentárias de número e forma foram consideradas. Resultados: houve maior prevalência de anomalias dentárias no grupo caso, comparado ao grupo controle. Ao todo 42 anomalias dentárias foram identificadas, 25,33% no grupo caso e 8,04% no grupo controle (p<0,001). Houve maior frequência de anomalias dentárias na FL/PNS (47,36%), seguida da fissura labial não sindrômica (31,57%) e da fissura palatina não sindrômica (21,05%). A ocorrência de agenesia (p= 0,005) e geminação (p=0,029) foram maiores no grupo caso. Conclusão: a ocorrência de agenesia e geminação dentária foram mais frequentes no grupo caso e pode contribuir para a definição de subfenótipos de fissuras orais.

Abstract Objectives: to investigate the prevalence of dental anomalies in complete deciduous dentition of children with NSCL/P. Methods: this study included 75 children with NSCL/P and 286 healthy control. In both groups the children had deciduous dentition with ages varying from 4 to 6 years. Clinical examination, panoramic and periapical radiographies were performed and dental anomalies of number and shape were considered. Results: there was a higher prevalence of dental anomalies in the case group, compared to the control group. In all, 42 dental anomalies were identified, 25.33% in the case group and 8.04% in control group (p<0.001). Therewas a higher frequency of dental anomalies in NSCL/P (47.36%), followed by non-syndromic cleft lip (31.57%) and non-syndromic cleft palate (21.05%). The occurrence of agenesis (p= 0.005) and twinning (p = 0.029) were higher in the case group. Conclusions: the occurrence of agenesis and dental twinning was more frequent in the case group and may contribute to the definition of oral cleft subphenotype.

Oral dirofilariasis is very rare with non-specific clinical manifestations. Here, we report the case of a 65-year-old South American woman with a submucosal nodule on her right buccal mucosa. The nodule was slightly tender and painful. Differential diagnoses included mesenchymal (lipoma or fibrolipoma, solitary fibrous tumor, and neurofibroma) or glandular benign tumors (pleomorphic adenoma) with secondary infections. We performed excisional biopsy. A histopathological examination revealed a dense fibrous capsule and a single female filarial worm showing double uterus appearance, neural plaque, well-developed musculature and intestinal apparatus. Dirofilariasis was diagnosed, and the patient was followed-up for 12 months without recurrence.

The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P). This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher’s test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.

Cyclosporin A (CyA) induces gingival overgrowth via its stimulatory effects on expression of transforming growth factor-beta1 (TGF-β1) and collagen. It is not known whether CyA has a direct effect on gingival fibroblasts or induces its effect indirectly via stimulation of myofibroblast transdifferentiation. The present study was undertaken to examine the in vivo and in vitro effect of CyA on myofibroblast transdifferentiation. Rats were treated for 60 days with a daily subcutaneous injection of CyA, and the gingival overgrowth tissue was analyzed by immunohistochemistry. In vitro, fibroblasts from normal gingiva (NG) were cultured in the presence of different concentrations of CyA, and subjected to semi-quantitative reverse transcriptase-polymerase chain reaction and western blot. Although CyA treatment stimulated TGF-β1 expression by NG fibroblasts, it lacked to induce expression and production of isoform α of smooth muscle actin (α-SMA), the specific myofibroblast marker. The expression levels of connective tissue growth factor (CTGF), which has been considered a key molecule to promote the transdifferentiation of myofibroblasts via TGF-β1 activation, were unaffected by CyA. Our results demonstrate that CyA-induced gingival overgrowth is not associated with activation of myofibroblast transdifferentiation, since CyA is not capable to increase CTGF expression.

OBJETIVO: Avaliar a prevalência dos aumentos gengivais medicamentosos em usuários brasileiros de nifedipina e fenitoína e determinar a presença de fatores preditores/modificadores. METODOLOGIA: Dados demográficos, farmacológicos e periodontais foram obtidos de 100 pacientes usuários da Atenção Primária no Vale do Jequitinhonha que usavam nifedipina e/ou fenitoína. Avaliações clínicas, incluindo a análise do aumento gengival, foram feitas por um avaliador calibrado. Análises bivariadas (teste do qui-quadrado ou teste t de Student) foram usadas para identificar fatores demográficos, periodontais e medicamentosos que apresentassem associação com a severidade do aumento gengival. Foi utilizada análise multivariada (regressão de Poisson) para estimar a razão de prevalência e intervalo de 95% de confiança para identificar os fatores de risco associados ao desenvolvimento do AG. RESULTADOS: A prevalência do aumento gengival foi elevada (86%), mas a gravidade mais comumente observada foi a leve. A prevalência foi maior em usuários de fenitoína do que de nifedipina (P=0.01). Não houve associação entre aumento gengival e as variáveis demográficas, farmacológicas e periodontais. CONCLUSÃO: A alta prevalência do aumento gengival medicamentoso entre os usuários de nifedipina e fenitoína enfatiza a importância do cirurgião dentista no diagnóstico, prevenção e controle dessa alteração.

PURPOSES: The aim of this study was to evaluate the prevalence of drug-induced gingival overgrowth (DIGO) in Brazilian users of nifedipine and/or phenytoin and to determine the presence of predisposing/modifying factors. METHODS: Demographic, pharmacological, and periodontal data were obtained from 100 users of the Brazilian Primary Health Care System in Diamantina, Jequitinhonha Valley, Minas Gerais state, Brazil, who were taking nifedipine and/or phenytoin. Clinical evaluations including gingival overgrowth analysis were carried out by a single calibrated examiner. Bivariate analysis (Chi-square test or Student's t-test) were used to identify demographic, periodontal and drug-related significant factors associated with gingival overgrowth severity. Multivariate analysis (Poisson regression) was used to assess confounding factors. RESULTS: The prevalence of DIGO was high (86%), but its severity was predominately mild. The prevalence of DIGO was significantly higher in phenytoin users than in nifedipine users (p=0.01). There was no association between DIGO and demographic, pharmacological or periodontal variables. CONCLUSION: The high occurrence of DIGO among users of nifedipine and phenytoin emphasizes the importance of the dentist as part of the public health team to provide the prevention, early diagnostic, and control of this alteration.

The aim of this work was to study the immunohistochemical expression of androgen receptor, estrogen receptor and progesterone receptor in pleomorphic adenomas, Warthin's tumors, mucoepidermoid carcinomas and adenoid cystic carcinomas of salivary glands. A total of 41 pleomorphic adenomas, 30 Warthin's tumors, 30 mucoepidermoid carcinomas and 30 adenoid cystic carcinomas were analyzed, and the immunohistochemical expression of these hormone receptors were assessed. It was observed that all cases were negative for estrogen and progesterone receptors. Androgen receptor was positive in 2 cases each of pleomorphic adenoma, mucoepidermoid carcinoma and adenoid cystic carcinoma. In conclusion, the results do not support a role of estrogen and progesterone in the tumorigenesis of pleomorphic adenomas, Warthin's tumors, mucoepidermoid carcinomas and adenoid cystic carcinomas. However, androgen receptors can play a role in a small set of salivary gland tumors, and this would deserve further studies.

O objetivo do presente estudo foi analisar a prevalência de fissuras orais não-sindrômicas em crianças que receberam tratamento no Centro de Reabilitação de Anomalias Craniofaciais da Universidade José do Rosário Vellano, Alfenas, MG, Brasil. Todos os dados epidemiológicos deste estudo foram obtidos dos arquivos de 126 pacientes pediátricos com fissuras orais sem outra malformação adicional que compareceram ao Centro para tratamento entre 2000 e 2005. O predomínio das fissuras foi observado em caucasianos e a relação entre homens e mulheres foi de 1,3. Os homens foram 2,57 vezes mais atingidos por fissuras lábio-palatais (FLP) do que as mulheres. FLP com prevalência de 39,68% e fissuras labial isolada (FL) com prevalência de 38,09% foram as anomalias mais comuns, seguidas por fissuras palatinas isoladas (FP, 22,23%). As FLP completas e unilaterais (26,19%) foram as de maior prevalência, seguidas por FL incompletas e unilaterais (23,81%). O presente estudo mostrou a experiência de um Hospital de Referência em Minas Gerais; contudo, a verdadeira prevalência de fendas orais ainda é desconhecida. Nossos achados divergem dos de alguns poucos estudos anteriores por demonstrar prevalências similares de FLP e FL, e um acometimento maior de FLP em caucasianos do sexo masculino.

The aim of the present study was to analyze the prevalence of nonsyndromic oral clefts in children receiving treatment at the Center for the Rehabilitation of Craniofacial Anomalies, José do Rosário Vellano University, Alfenas, MG, Brazil. All the data for the epidemiological study was retrieved from the files of 126 pediatric patients with oral clefts without any additional malformation, who came to the center for treatment between 2000 and 2005. A predominance of clefts was observed in Caucasians, and the ratio of male to female was 1.3. Males were 2.57 times more affected by cleft lip and palate (CLP) than females. CLP with a prevalence of 39.68% and isolated cleft lip (CL) with a prevalence of 38.09% were the most common anomalies, followed by isolated cleft palate (CP; 22.23%). Complete and unilateral CLP (26.19%) presented the highest prevalence, followed by incomplete and unilateral CL (23.81%). The present study presents the experience of a reference hospital in the state of Minas Gerais; however, the real prevalence of oral clefts in Brazil is still unknown. Our findings differ from those of a few previous Brazilian reports because they suggest similar prevalences of CLP and CL, and a higher prevalence of CLP in Caucasian males.

Fibromatose gengival hereditária (FGH) é uma condição bucal rara clinicamente manifestada por um aumento gengival generalizado e fibrótico, podendo apresentar-se de forma isolada ou associada a outras alterações, como parte de síndromes. Os mecanismos biológicos envolvidos na FGH são desconhecidos, e os resultados de estudos de cultura celulares são controversos. Para elucidar as características fenotípicas dos fibroblastos de FGH, nós isolamos quatro linhagens celulares de fibroblastos de FGH de indivíduos de uma mesma família e comparamos as características morfológicas e proliferativas com fibroblastos provenientes de pacientes com gengiva clinicamente normal (GN). Fibroblastos de GN e FGH em condições de subconfluência celular apresentaram típicas características morfológicas, como formato fusiforme, núcleo central e longos prolongamentos citoplasmáticos, mas em condições de saturação da densidade celular, os fibroblastos de FGH apresentaram dimensões menores que as células controle. A relação núcleo/citoplasma foi sempre menor para todas as linhagens celulares de fibroblastos de FGH, sugerindo que a redução celular, é proveniente de uma redução ou compactação citoplasmática e não nuclear. A capacidade proliferativa de fibroblastos de FGH foi maior que a de fibroblastos de GN. Estes resultados sugerem que diferenças morfológicas e proliferativas dos fibroblastos de FGH podem estar associadas aos eventos biológicos envolvidos na etiopatogenia do aumento gengival observado em pacientes com FGH.

Hereditary gingival fibromatosis (HGF) is a rare oral condition, clinically manifested through a generalized and fibrotic enlargement of the gingiva, which may present as an isolated clinical finding or in association with other features, as part of a syndrome. The biological mechanisms involved in HGF are unknown, and the results of cell-culture studies are controversial. To elucidate the phenotypic and proliferative characteristics of HGF fibroblasts, we isolated 4 cell lines of gingival fibroblasts from members of the same family with HGF, and compared with gingival fibroblasts from 4 healthy patients (NG). HGF and NG fibroblasts, in subconfluent culture densities, showed typical morphological characteristics, such as spindle form with a central spherical nucleus and long cytoplasmatic prolongations, but in saturation density, HGF cells were shorter than control cells. The nucleus/cytoplasm relation was always smaller in all HGF cell lines, suggesting that the cellular reduction is derived from reduction or compaction of the cytoplasm and not of the nucleus. The proliferation rate was higher in fibroblasts from HGF than in the ones from NG. These results suggest that differences in the morphology and proliferation of HGF fibroblasts may be associated with the biological events involved in the pathogenesis of gingival overgrowth in HGF patients.