IL17A and IL17RA gene polymorphisms in Fanconi anemia

Abstract Fanconi anemia is a rare autosomal recessive disease. In this disease, cytokine pathways can induce the bone marrow failure that is observed in individuals with Fanconi anemia. Interleukin IL-17 exhibits a protective effect in organisms because it induces neutrophil recruitment and shows a pathological role in several models of autoimmune diseases, periodontal disease, cancer, allograft rejection, and graft versus host disease. Polymorphisms in the IL17A and IL17RA genes were evaluated from DNA in saliva, comparing individuals with or without Fanconi anemia, using models of genotypic transmission (additive, dominant, and recessive). Polymorphisms in the IL17A and IL17RA genes (rs2241044 [C allele], rs879577 [C allele], rs9606615 [T allele], and rs2241043 [C allele]) were risk factors for developing Fanconi anemia. We also performed an analysis of gene markers with clinical variables in the Fanconi group. Polymorphisms in the IL17A gene (rs3819025 [A allele] and rs2275913 [G allele], respectively) were associated with an age of less than 20 years (p = 0.026; RP 0.65) and the female sex (p = 0.043; RP 0.88). The IL17RA gene was also associated with age and the presence of leukoplakia (a potentially malignant oral disorder). An age of less than 20 years was associated with rs917864 (T allele; p = 0.036; RP 0.67). The presence of leukoplakia was associated with rs17606615 (T allele; p = 0.042; RP 0.47). To our knowledge, this is the first study that associates IL17A and IL17RA gene polymorphisms with Fanconi anemia and examines rs2241044 polymorphisms in scientific literature thus far.

Telehealth in Oral Medicine: report of an experience from public health care in a southern Brazilian state

Abstract: This study aimed to describe the telediagnosis of oral lesions through a telehealth program offered in the State of Paraná, southern Brazil. This report included all oral medicine-related teleconsultations between January 2015 and December 2019. Primary care dentists from the public health services of the state were trained to use the Telessaúde Brasil Redes platform, a national telehealth program that provides telediagnostic support through teleconsultations with specialists. Clinical information and images of oral lesions were solicited to each teleconsultation request. An oral medicine specialist evaluated the cases and provided diagnostic hypotheses, management, and referral suggestions. Finally, dentists were invited to evaluate the services. A total of 162 cases were submitted by 44 dentists. The patient's main complaint was described in 98.8% of cases, while the duration/evolution and the type of lesions were 64.81% and 40.12%, respectively. No images were attached to 19 (11.70%) patients. The information sent was sufficient for diagnostic reasoning in 125 (77.16%) requests. The specialist considered 78 cases (48.1%) to be resolved in primary care. Among respondents (45.7%), dentists considered that the teleconsultation "totally attended" their needs in 92% of requests. The description of the telehealth platform usage in oral medicine in Paraná showed the need to improve the participation of primary care dentists and the quality of clinical information provided as barriers to be overcome, aiming for the best usage of the platform.

Innovative reflection on oral cancer research priorities: the contribution of social network analysis

Abstract: The objective of this study is to present a tool to help understand how variables associated with oral cancer prevention relate to each other in a social network. A search of the Scopus database was performed using terms related to oral cancer and prevention from 2000 to 2020. The keywords were used as nodes and were analyzed using NodeXL, which produced the network graphic analysis. From the 1004 publications available, 4038 different keywords were obtained and then grouped into 75 constructs based on conceptual similarity. The most influential nodes were risk factors, comorbidities, epidemiology, and treatment. However, topics such as technology, telemedicine, self-examination, and diagnostic delay remain far removed from central relations. Network analysis enabled us to observe the bias of biological and basic science in the field and identify a need for studies concerning primary prevention, behavioral interventions, and inequalities in oral cancer.

Self-perception of periodontal health status among individuals with Fanconi anemia

ABSTRACT Introduction: Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations and bone marrow failure. One of the most common oral diseases in individuals with FA is periodontitis and adequate self-perception of periodontal status could contribute to its prevention and early detection. Aim: To compare oral health self-perception, measured by a questionnaire, with the clinical oral condition of patients with FA. Methods and Results: Fifty-six patients with FA, over 11 years of age, answered a questionnaire about dental history and self-reported oral health. Decayed, missing, and filled teeth (DMFT), Visible Plaque Index (VPI) and Gingival Bleeding Index (GBI) were measured. The median age of participants was 21 years (min 11, max 44), 31 (55%) were females and 25 (45%) males. Thirty-five (62.5%) participants rated their oral condition as satisfactory and 7 (12.5%) participants reported tooth mobility, 10 (17.9%) exposed roots and 21 (37.5%) gingival bleeding. Clinical examination detected average DMFT = 5.23, VPI = 31.36% and GBI = 33.77%. The gingival bleeding report was more frequent among individuals with higher GBI (p = 0.014). The DMFT was higher in those who had already undergone dental treatments (p = 0.031). There was an association between participants who presented dental caries and who rated their oral health as poor (p = 0.03). The question "Do your gums bleed easily?" had good accuracy in the evaluation of periodontal disease (p = 0.68). Conclusion: Oral health self-perception of individuals with FA about gingival inflammation was associated with their gingival bleeding index.

Evaluación longitudinal de la mucositis oral en el trasplante de células madre hematopoyéticas: un estudio piloto / Longitudinal evaluation of oral mucositis in hematopoietic stem cell transplantation: a pilot study

Resumen Objetivo: Describir la incidencia y el puntaje de la mucositis oral (MO) y las morbilidades relacionadas en individuos sometidos a trasplante de células madre hematopoyéticas (TCMH) a lo largo del período de inmunosupresión. Métodos: Los sujetos con enfermedades onco / hematológicas, mayores de 14 años, sometidos a TCMH alogénico fueron evaluados diariamente por la presencia y clasificación de OM, nivel de dolor, disfagia, disgeusia y xerostomía. El examen comenzó dos días antes de la infusión de células madre hematopoyéticas y finalizó veinte días después. La OM se clasificó de acuerdo con la escala de la OMS y se utilizó la escala analógica visual (EVA) para medir el nivel de dolor. Resultados: Se reclutaron 23 individuos, el 83% con enfermedades malignas y el 91% con OM. La mediana del grado máximo de OM fue 3 y el nivel máximo de dolor fue 9. Hubo una mediana de 11 días de uso de medicación opioide. Los sujetos que tuvieron el mayor número de días con dolor en la boca alcanzaron el grado máximo de OM y el mayor número de días y el uso de opioides. Conclusión: Hubo una alta incidencia y puntuaciones más altas de OM, pérdida de masa corporal y dolor en esta muestra.

Abstract Aim: To describe the oral mucositis (OM)` incidence and score, and related morbidities in individuals submitted to Hematopoietic Stem Cell Transplantation (HSCT) throughout the immunosuppression period of time. Methods: Subjects with onco / hematological diseases, older than 14 years, submitted to allogeneic HSCT were daily evaluated by the presence and classification of OM, pain level, dysphagia, dysgeusia and xerostomia. The examination started two days before the infusion of hematopoietic stem cells and ended twenty days later. The OM was classified according to the WHO scale and visual analog scale (VAS) was used to measure pain level. Results: Twenty-three individuals were recruted, 83% with malignant diseases and 91% had OM. The median of maximum OM degree was 3 and the maximum pain level was 9. There was a median of 11 days of opioid medication use. The subjects who had the highest mean number of days with mouth pain reached the maximum degree of OM and higher number of days and opiod use. Conclusion: There was a high incidence and high scores of OM, loss of body mass and pain in this sample.

Ocupações relacionadas ao câncer de cabeça e pescoço em uma cidade do Sul do Brasil, 1998 a 2012 / Occupations associated with head and neck cancer in a city in Southern Brazil, 1998 to 2012

INTRODUÇÃO: O câncer é uma doença multifatorial e depende de múltiplas etapas. A redução da incidência ou a modificação da evolução da doença se dão pela eliminação dos fatores de risco associados ao câncer. A identificação de fatores de risco para o desenvolvimento de câncer de cabeça e pescoço associados à ocupação profissional pode complementar ações de vigilância desse tipo de câncer e também favorecer a implantação de medidas preventivas nos ambientes de trabalho. OBJETIVO: Identificar as ocupações de pacientes com câncer de cavidade oral (CCO) e de orofaringe (COF) na cidade de Curitiba, Paraná. MÉTODO: Foi realizado um estudo transversal que avaliou 896 casos de CCO e COF a partir do Registro de Câncer de Base Populacional, entre 1998 e 2012. As ocupações coletadas foram classificadas em quatro grupos baseados no grau de risco definido pelo Ministério do Trabalho e foi analisado o consumo de álcool e tabaco pelos pacientes. RESULTADOS: Os grupos ocupacionais associados aos serviços de limpeza e construção, setor administrativo, agricultura e transportes mantiveram as maiores frequências. O grau de risco 3 concentrou o maior número de casos, com 55,2% do total, atingindo 65,5% quando foram avaliados indivíduos com história de consumo de tabaco e álcool. Comércio, construção, limpeza e serviços mecânicos tiveram o maior número de CCO e COF no município estudado. CONCLUSÃO: Foram encontradas 131 ocupações na amostra estuda, sendo a maior concentração observada no grupo de risco 3. Dessa forma, entende-se que o risco ocupacional deve ser levado em consideração no planejamento de ações preventivas da doença

BACKGROUND: Cancer is a multifactorial disease and depends on multiple stages. Eliminating risk factors contributes to reduce the incidence of disease or modifies its progression. Identifying risk factors for head and neck cancer associated with definite occupations might complement surveillance actions and help in the implementation of preventive measures in the workplace. OBJECTIVE: To identify the occupations of patients with oral cavity (OCC) or oropharyngeal (OPC) cancer in Curitiba, Parana, Brazil. METHODS: Cross-sectional study in which we analyzed 896 cases of OCC and OPC based on the Population-based Cancer Registry, 1998­2012. The located occupations were categorized in four risk groups following the classification formulated by the Ministry of Labor. We also analyzed variables smoking and alcohol consumption. RESULTS: The highest rates of oral cancer corresponded to occupations associated with cleaning, construction, administration, agriculture and transport. Most occupations, 52.2%, were categorized as risk grade 3. This rate increased to 65.5% when smoking and alcohol consumption were included in analysis. Workers in trade, construction, cleaning services and mechanics accounted for the largest number of OCC and OPC cases in the analyzed municipality. CONCLUSION: We found 131 occupations associated with cases of oral cancer, most of which were categorized as risk grade 3. In consequence, occupational risk should be considered in the planning of preventive actions.

Fanconi Anemia: main oral manifestations / Anemia de Fanconi: principais manifestações bucais

Fanconi Anemia is a recessive and rare genetic disorder, characterized by chromosomal instability that induces congenital alterations in individuals. Aplastic anemia due to the progressive failure of the bone marrow, malignant neoplasias such as acute myeloid leukemia, liver tumors and squamous cell carcinoma are some of the possible evolutions of Fanconi Anemia. Some of these diseases develop mainly after bone marrow transplantation. The aim of this critical review of the literature was to discourse about the main oral manifestations and their involvement in the health of individuals who are ill with Fanconi Anemia. The clinical oral findings described in the literature include periodontal changes, such as gingivitis and aggressive periodontitis, recurrent aphthous ulcers and traumatic lesions. Papillary atrophy, macroglossia, melanic pigmentation and squamous cell carcinoma are the most common oral manifestations on the tongue. An increased risk for the development of malignant neoplasias in individuals with Fanconi Anemia has been reported, and this is progressive after bone marrow transplantation. In radiographs, dental anomalies such as the presence of supernumerary teeth, tooth agenesis, tooth rotation and transposition of teeth are observed. Salivary flow and some salivary components are also altered. Due to the increased susceptibility to the development of cancer in this specific population, it is important for the dentist to know the common oral manifestations and potentially cancerous lesions, in order to make an early diagnosis in individuals with Fanconi Anemia.

A Anemia de Fanconi é uma desordem genética recessiva e rara caracterizada por uma instabilidade cromossômica que induz a alterações congênitas nos indivíduos. Anemia aplásica pela falência progressiva da medula óssea, neoplasias malignas como leucemia mielóide aguda, tumores de fígado e carcinoma espinocelular, são algumas das possíveis evoluções da Anemia de Fanconi. Algumas dessas doenças desenvolvem-se principalmente após o transplante de medula óssea. O objetivo desta revisão crítica da literatura é discorrer sobre as principais manifestações bucais e sua implicação na saúde dos indivíduos doentes da Anemia de Fanconi. Os achados clínicos bucais descritos na literatura incluem alterações periodontais, como gengivite e periodontite agressiva; úlcera aftosa recorrente e lesão traumática. A atrofia papilar, macroglossia, pigmentação melânica e o carcinoma espinocelular são as manifestações bucais mais comuns na língua. Um aumento do risco ao desenvolvimento de neoplasias malignas em indivíduos com Anemia de Fanconi é relatado, sendo este progressivo após o transplante de medula óssea. Nas radiografias são observadas anomalias dentárias como a presença de supranumerários, agenesias dentárias, giroversão e transposição dentária. O fluxo salivar e alguns componentes salivares também estão alterados. Devido à suscetibilidade aumentada ao desenvolvimento do câncer nessa população específica, torna-se importante para o cirurgião dentista conhecer as manifestações bucais comuns e as lesões cancerizáveis para realizar um diagnóstico precoce nos indivíduos com Anemia de Fanconi.

Maxillary squamous cell carcinoma: diagnosis and evolution of an inoperable case

Introduction: Squamous cell carcinoma (SCC) is a malignant neoplasia, originating from the oral lining epithelium, responsible for approximately 90-95% of malignancies in this location. Incidence and mortality rates for oral SCC may vary due to personal habits, socioeconomic characteristics, environmental factors and quality of health care. This study reports the aggressive evolution of SCC with a delayed diagnosis and the impossibility of immediate curative therapy. Case report: A 47-year-old brown male patient, smoker and drinker was referred by a primary health care center to the Stomatology Clinic at UFPR (Federal University of Paraná). The diagnosis of well-differentiated SCC was confirmed by histopathological examination. The patient was referred to a specialized service where an oncology team defined the case as inoperable due to lung function limitations and advanced tumor staging. The patient underwent lung physiotherapy sessions until reaching clinical conditions to undergo oncologic therapy which included radiotherapy and chemotherapy. Conclusion: The reported case highlights the importance of establishing an early diagnosis for SCC. There is a need of facilitating and speeding the access to both health care services and information that lead patients to seek professional assistance as soon as the first disease signs appear.

Oral cancer after prolonged immunosuppression for multiorgan chronic graft-versus-host disease

Long-term survivors of hematopoietic stem cell transplantation are recognized as a risk group for malignization. Malignant oral neoplasms are increasingly being reported in the literature as a consequence of lesions of chronic graft-versus-host disease, and prolonged multidrug treatment to control its manifestations. This report describes a 43-year-old patient who, after allogeneic bone marrow transplantation, developed an oral squamous cell carcinoma secondary to the use of azathioprine, cyclosporine, prednisone, and tacrolimus, associated with multiorgan chronic graft-versus-host disease involving the oral mucosa, skin, eyes, and liver. This report aims to discuss the possible role of immunosuppressant therapy for chronic graft-versus-host disease on the development of oral squamous cell carcinoma, and the relevance of a close oral follow-up of patients to detect dysplastic or malignant alterations at an early stage.

Atitudes e acesso à informação de saúde bucal de um grupo de gestantes adolescentes / Atttitudes and acess to information on oral health of a group of pregnant adolescents

Objetivos: Avaliar as atitudes de gestantes adolescentes sobre saúde bucal e alguns indi­cadores de acesso e informação à atenção odontológica. Materiais e Métodos: A pesquisa teve desenho observacional transversal. Os dados coletados foram obtidos através de questionário desenvolvido para este estudo em gestantes adolescentes, realizados no período de maio a dezembro de 2011, em uma Maternidade em Curitiba/Paraná. Resultados: O total da amos­tra foi de 38 adolescentes gestantes, com média de idade de 15,5 anos, sendo que a maioria (n= 22) encontrava-se no terceiro trimestre de gestação. A maioria das entrevistadas visitou o Cirurgião-Dentista durante o período gestacional 55% (n=21) e 45% (n= 17) disseram ter re­cebido orientações sobre cuidados bucais. Apenas três gestantes firmaram ter recebido algum tipo de material instrucional tais como cartilhas ou panfletos. Em relação à saúde bucal durante a gravidez, 81% (n=31) relataram não ter mudado seus hábitos de higiene e 74% (n=28) das adolescentes disseram não ter notado alterações significativas na mucosa. Apenas 25% (n=9) da amostra responderam saber cuidar da boca e dos dentes do futuro bebê. Conclusão: Apesar de a maioria das adolescentes ter visitado o Cirurgião-Dentista durante a gestação, observou-se desconhecimento em relação aos cuidados bucais e necessidade de aumentar o nível de infor­mação ao acesso de saúde bucal no grupo pesquisado.

Aim: Evaluate the knowledge of pregnant adolescents about oral health and some indica­tors of access to dental care. Materiais and Methods: A cross-sectional observational study was designed. The data were collected through a questionnaire developed for this study with 38 pregnant adolescents, conducted from May to December 2011 at a Hospital in the city of Curi­tiba, southern Brazil, Results: The mean age of the sample was 15.5, the majority (n = 22) in the third trimester pregnancy. Most of the respondents visited the dentist during pregnancy, 55% (n = 21) and 45% (n = 17) said they had received guidance concerning oral care. However, only three women said they had received some type of instructional material such as brochures or leaflets. Regarding oral health during pregnancy, 81% (n = 31) reported they have not changed their hygiene habits, and 74% (n = 28) of teenagers said they have noticed significant changes in the mucosa. Only 25% (n = 9) said they know how to take care of their future babv's mouth and teeth. Conclusion: Although most adolescents have seen a dentist during pregnancy, there was poor oral care knowledge and a great need to increase the amount of information and access to oral health in this group.

Câncer de boca baseado em evidências científicas / Oral cancer based on scientific evidences

Apesar dos inúmeros avanços no conhecimento científico do câncer de boca até o momento, muito ainda há para ser corretamente descoberto e compreendido. Convicções do passado foram substituídas por novas evidências científicas. O câncer de boca acomete cerca de 275.000 pessoas no mundo anualmente sendo mais de 14.100 casos no Brasil, em 90% dos casos é diagnosticado como carcinoma epidermoide. A taxa de mortalidade permanece praticamente a mesma de décadas passadas. Suas características clínicas são bastante conhecidas, mas apesar disso o número de pacientes diagnosticados tardiamente permanece alto. A biologia celular avançou muito, porém ainda carece de um marcador eficiente. A biópsia permanece como o padrão ouro do diagnóstico, apesar das pesquisas realizadas com outras técnicas. O tratamento odontológico de pacientes portadores de neoplasias malignas será cada vez mais comum nos consultórios e o Cirurgião-Dentista deverá estar preparado para diagnosticar e lidar com essas situações

Although the advances in the oral cancer knowledge, several issues have to be addressed for a better understood of this disease. Convictions of the past have been replaced by new scientific evidences. Oral cancer affects annually more than 275.000 people worldwide and more than 14.100 cases in Brazil, 90% of these are squamous cell carcinoma; the mortality rate remains the same for many decades. Their clinical characteristics are well known, but despite this, the number of patients with late diagnosis remains high. Cell biology had a great advance in the last years and a precise marker is still a dream. Biopsy remains the gold standard for diagnosis of oral cancer in spite of studies with other techniques. The dental treatment of oncologic patients will be more common and the dentist should be prepared to diagnose and manage these patients

Análise imunoistoquímica de metaloproteases nos cistos dentígeros, cistos radiculares e tumores odontogênicos ceratocísticos: revisão sistemática / Immunohistochemical analysis of metalloproteases in dentigerous cysts, radicular cysts and keratocystic odontogenic tumors: systematic review

Evidence suggests that metalloprotease expression may affect the biological behavior of odontogenic lesions. This study was conducted to review the literature about the role of metalloproteases in the development of odontogenic lesions. A search was carried out using one database, MEDLINE, via PubMed. Only articles written in English were included. Abstracts of all articles retrieved in the electronic search were evaluated for their relevance. Three articles met inclusion criteria. They analyzed the role of MMP-2, MMP-8 and MMP-13 in radicular cysts, dentigerous cysts and keratocystic odontogenic tumors, and of MMP-1, MMP-7 and MMP-27 in keratocystic odontogenic tumors. The immunostaining technique used for all studies was similar, differing only in type of staining used. Different immunoreactivity results were found in the studies. The pattern of metalloprotease expression in odontogenic lesions was different from the pattern found in other lesions. In the studies analyzed, there was a significant positive immunoreactivity for metalloproteases in odontogenic lesions, particularly in keratocystic odontogenic tumors, a finding that may explain KCOT aggressiveness.

Evidências sugerem que a expressão das metaloproteinases podem afetar o comportamento biológico das lesões odontogênicas. Esse estudo foi conduzido a fim de revisar a literatura sobre o papel das metaloproteinases no desenvolvimento das lesões odontogênicas. A pesquisa foi realizada utilizando a base de dados do MEDLINE, via PUBMED. Somente artigos escritos em língua inglesa foram aceitos. Os resumos de todos os artigos encontrados na busca foram avaliados de acordo com sua relevância. Três artigos preencheram os critérios de inclusão. Eles analisaram o papel da MMP-2, MMP-8 e MMP-13 nos cistos radiculares, cistos dentígeros e nos tumores odontogênicos ceratocísticos (TOC) e MMP-1, MMP-7 e MMP-27 no TOC. A técnica imunoistoquímica utilizada por todos os estudos foi similar, diferindo somente pelo tipo da coloração utilizada. Diferentes imunomarcações foram encontradas nos estudos. O padrão da expressão das metaloproteinases nas lesões odontogênicos variou entre as lesões. Nos estudos analisados, houve uma imunomarcação positiva, significante estatiticamente, das metaloproteinases nas lesões odontogênicas em especial nos TOCs, o que pode explicar a agressividade dessas lesões.

Análise dos fatores de risco para o desenvolvimento de mucosite oral em pacientes submetidos ao transplante de medula óssea / Risk factors analysis for the development of oral mucositis in patients submmited to bone marrow transplant

A mucosite oral é uma das complicações que pode acometer o paciente submetido ao transplante de medula óssea (TMO). As lesões apresentam-se como um eritema, descamação ou ulceração da mucosa bucal causando mal-estar e dificultando o período imediato de recuperação dos pacientes transplantados. Não existem mecanismos efetivos para preveni-la ou tratá-la e a história natural do desenvolvimento das lesões ainda precisa ser melhor detalhada. Vários fatores de risco têm sido relacionados à ocorrência de mucosite oral e o principal deles parece estar ligado ao tipo de protocolo de preparo quimio/radioterápico que antecede o TMO. O presente estudo avaliou retrospectivamente a ocorrência da mucosite oral através da observação de 583 prontuários clínicos do Serviço de Transplante de Medula Óssea da Universidade Federal do Paraná, abrangendo um período total de 10 anos (1991-2001). Os pacientes selecionados haviam sido tratados de doenças hematológicas neoplásicas (Leucemia Linfóide Aguda, Leucemia Mielóide Crônica, Leucemia Mielóide Aguda) e doenças de falência medualr (Anemia Aplástica Severa e anemia de Fanconi). Os prontuários foram revisados no período de pós-transplante imediato quando se fez o registro do grau máximo de mucosite oral desenvolvido entre todos os pacientes. Todos os prontuários dos pacientes com sobrevida superior a 100 dias após o transplante foram avaliados para a duração da mucosite oral...