Associated oral manifestations with HIV southeastern Brazilian patients on antiretroviral therapy

Abstract Objectives This study aimed to assess the prevalence of oral lesions in patients living with HIV infection and their association with CD4 count, viral load, and antiretroviral therapy in patients with HIV. Methods A cross-sectional study was conducted on a sample of 161 patients attending the… All the patients were examined for their oral lesions, current CD4 counts, type, and duration of the therapy. Data analyses were carried out using Chi-Square, Student T/Mann-Whitney, and logistic regression tests. Results Oral lesions were observed in 58.39% of patients with HIV. Periodontal disease with 78 (48.45%) or without mobility 79 (49.07%) was observed more frequently, followed by hyperpigmentation of oral mucosa 23 (14.29%), Linear Gingival Erythema (LGE) 15 (9.32%), candidiasis pseudomembranous 14 (8.70%). Oral Hairy Leukoplakia (OHL) was observed only in 3 (1.86%). A relationship between periodontal disease with dental mobility and smoking was found (p = 0.04), as well duration of treatment (p = 1.53e-3) and age (p = 0.02). Hyperpigmentation was related to race (p = 0.01) and smoking (p = 1.30e-6). CD4 count, CD4:CD8 ratio, viral load, or type of treatment were not associated with oral lesions. Logistic regression showed that the duration of treatment has a protective effect on the periodontal disease with dental mobility (OR = 0.28 [−2.27 to −0.25]; p-value = 0.03), independent of age or smoking. To hyperpigmentation, the best model included smoking (OR = 8.47 [1.18-3.10], p = 1.31e-5), without race or type and duration of treatment. Conclusion Among HIV patients undergoing antiretroviral treatment, oral lesions can be observed, predominantly periodontal disease. Pseudomembranous candidiasis and oral hairy leukoplakia were also observed. No relationship was found between associated oral manifestations in HIV patients and the start of the treatment, TCD4+ and TCD8+ cell count, TCD4:TCD8 ratio, or viral load. The data indicate that there is a protective effect of duration of treatment with relation to periodontal disease with mobility and that hyperpigmentation seems to be more related to smoking than type and duration of treatment. Level of evidence Level 3 (OCEBM Levels of Evidence Working Group*. "The Oxford 2011 Levels of Evidence").

American Cutaneous Leishmaniasis in Eastern Minas Gerais: veiled reality of a neglected disease / Leishmaniose Tegumentar Americana no Leste de Minas Gerais: realidade velada de uma doença negligenciada

Objective: to analyze the notified and confirmed cases of ACL in a municipality in east Minas Gerais, from 2007 to 2020. Methods: a combined study was carried out as a cross-sectional and an ecological approach of time series type, using notified and confirmed ACL cases, from 2007 to 2020. Primary and secondary data were used. Data were analyzed using descriptive and inferential statistics (simple linear regression, T-test, Mann-Whitney, chi-square (χ2) at a 5% significance level). Results: a total of 219 cases were reported with a decreasing temporal trend, with a higher frequency observed for the cutaneous form (82.6%), age group 40 to 59 years (32.1%), black race (56.4%), and completed elementary school (47.7%). Individuals with the mucosal clinical form had lesions for a longer time, a greater chance of not progressing to cure, and used more vials of meglumine antimoniate when compared to patients with the cutaneous form. Conclusions: different correlations were observed between the variables studied and the profile of involvement described in the scientific literature, with the clinical form predominantly cutaneous and with a good prognosis.

Objetivo: analisar os casos notificados e confirmados de LTA em um município do leste de Minas Gerais, no período de 2007 a 2020. Métodos: foi realizado um estudo combinado com abordagem transversal e ecológica do tipo série temporal, utilizando casos notificados e confirmados de LTA, de 2007 a 2020. Foram utilizados dados primários e secundários. Os dados foram analisados por meio de estatística descritiva e inferencial (regressão linear simples, teste T, Mann-Whitney, qui-quadrado (χ2) com nível de significância de 5%). Resultados: foram notificados 219 casos com tendência temporal decrescente, com maior frequência observada para a forma cutânea (82,6%), faixa etária de 40 a 59 anos (32,1%), raça negra (56,4%) e ensino fundamental completo (47,7%). Indivíduos com a forma clínica mucosa apresentaram maior tempo de lesão, maior possibilidade de não evoluir para cura e utilizaram mais ampolas de antimoniato de meglumina quando comparados aos pacientes com a forma cutânea. Conclusões: foram observadas diferentes correlações entre as variáveis estudadas e o perfil de acometimento descrito na literatura científica, com a forma clínica predominantemente cutânea e com bom prognóstico.

Factors associated with advanced-stage oral and oropharyngeal squamous cell carcinoma in a Brazilian population

Diagnosis of oral and oropharyngeal cancer in advanced stages may be associated with social nature factors, access to health care, education, occupation, and behavioral/ cultural factors. Aim: To determine the factors related to high clinical-staging in patients diagnosed with squamous cell carcinoma in the oral and oropharyngeal region in a Cancer Center in Brazil between 2009 and 2015. Methods: It is an epidemiological, retrospective, and exploratory study. Patients diagnosed with squamous cell carcinoma had their medical records analyzed. The variables considered were sociodemographic, lifestyle, and disease characteristics. Descriptive and exploratory tests (Pearson's, chi-square test and, Student's t-test) were realized. Results: We analyzed 365 patient records, among which 289 (79.17%) were male, and 73 (20.0%) were female. Age ranged from 16 to 101 years, with a mean of 61.13. Regarding education, 157 (43.01%) studied < 8 years, 103 (28.21%) were illiterate and 102 (27.94%) studied > 8 years. 305 (83.56%) patients live in urban areas. There was an association between high clinical-staging and low educational level. For high clinical-staging, symptomatology, tobacco, and alcohol intake as well. Conclusion: Patients with low educational levels tend to report the disease later, and their diagnostics occurred in advanced stages. Thus, specific public health policies for this population, including access to dental care to recognize the clinical signs and early diagnosis, are necessary

Hospitalização para casos de câncer de boca e faringe no Brasil e Mundo / Hospitalization for cases of oral and pharyngeal cancer in Brazil and World

Objetivo: Avaliar a internação hospitalar por câncer de boca e faringe no Brasil no período de 2008 a 2017. Métodos: Estudo das internações por estas neoplasias registradas no Sistema de Informação Hospitalar disponíveis no DATASUS/MS entre 2008 e 2017. Resultados: Foram registradas 263.556 mil internações por câncer de boca e faringe. O Sudeste apresentou a maior frequência de casos (44,3%). A maior taxa de internação ocorreu no Sul (19,6/100 mil habitantes). As maiores taxas de letalidade encontradas foram no Norte (12,7%) e Sudeste (12,3%). Houve um predomínio de internações em regime privado (53,5%) e em caráter de urgência no Brasil (53,5%). A média de permanência hospitalar foi de 6,4 dias. A taxa de letalidade em caráter de urgência foi maior do que em caráter eletivo. A taxa de internação apresentou tendência decrescente e a taxa de letalidade hospitalar, tendência de incremento de 0,2% a cada ano. A análise de índice de desenvolvimento humano médio e taxa de internação mostrou correlação moderada positiva entre essas variáveis e as regiões do país. Houve maior custo médio em reais por internação hospitalar em caráter eletivo e a região Centro-Oeste obteve maior média de custo financeiro (por guia autorizada) nesta modalidade. Conclusão: Observa-se um elevado número de internações por estes tipos de câncer no Brasil, além de um acentuado custo e alta média de permanência hospitalar, sendo variável entre as regiões do país.

Aim: To analyze hospital admission for oral and pharyngeal cancer in Brazil and regions from 2008 to 2017. Methods: This study analyzed the hospitalizations for this neoplasm registered in the Hospital Information System available in DATASUS/MS between 2008 and 2017. Results: A total of 263,556 hospitalizations were registered. The Southeast presented the highest frequency of cases (44.3%). The highest hospitalization rate occurred in the South (19.6/100 thousand). The highest rates of lethality were found in the North (12.7%) and Southeast (12.3%). There was a predominance of hospitalizations in the private care (53.5%) and emergency care (53.5%) sectors in Brazil. The mean hospital stay was 6.4 days. The case fatality rate was higher than the elective rate. The hospitalization rate declined, and the hospital lethality rate showed a tendency toward an increase of 0.2% per year. The correlation analysis of the average human development index and the hospitalization rates were moderately positive between the variables and the regions of the country. There was a higher average cost in reais for hospital admission on an elective basis, and the Mid-West region obtained a higher average financial cost (per authorized guide) in this modality. Conclusion: It was possible to verify a high number of hospitalizations for these types of cancer in Brazil, in addition to a high cost and average hospital stay, which tend to vary throughout the country.

Periapical and Endodontic Status Scale for Endodontically Treated Teeth and Their Association with Maxillary Sinus Abnormalities: A Cone-beam Computed Tomographic Study.

INTRODUCTION: This retrospective cross-sectional study investigated the applicability of the periapical and endodontic status scale (PESS) to determine the association of endodontically treated teeth with maxillary sinus (MS) abnormalities through cone-beam computed tomographic imaging. METHODS: A total of 631 endodontically treated teeth were analyzed. MS abnormalities were classified as mucosal thickening, sinus polyp, antral pseudocyst, nonspecific opacification, periostitis, and antral calcification. The PESS was used to evaluate the quality of endodontic treatment as well as periapical tissue conditions. The data were analyzed by chi-square tests (P < .05). RESULTS: MS abnormalities were detected in 70.52% of the sample, with a greater prevalence of mucosal thickening (38.19%), whereas periapical lesions were observed in 55.94% of the cases. Treated root canals with unsatisfactory filling, homogeneity, and coronal sealing had an odds Ratio (OR) of 2.21, 2.88, and 2.99, respectively (P < .001). Periapical lesions larger than 5 mm (OR = 314.95), in more than 1 root (OR = 3.72), involving the furcation region (OR = 5.21), in contact with important structures (OR = 7.37), and with cortical bone destruction (OR = 4.09) were significantly related to the presence of MS abnormalities (P < .001). An OR of 99,668 was observed in periostitis lesions greater than 5 mm (P < .001). CONCLUSIONS: The PESS proved to be an important tool for the analysis of endodontic and periapical conditions and was applicable to determine potential associations with MS abnormalities.

Associação das características sociodemográficas, clínicas e laboratoriais com estadiamento do câncer de próstata no norte de Minas Gerais, Brasil: estudo transversal analítico / Association of sociodemographic, clinical and laboratory characteristics with prostate cancer staging in northern Minas Gerais, Brazil: cross-sectional analytical study

Contexto e objetivo: O objetivo é investigar as associações das características sociodemográficas, clínicas e laboratoriais de pacientes com câncer de próstata admitidos nos serviços de referência em Montes Claros, Minas Gerais. Tipo de estudo e local: Estudo transversal e analítico realizado em Montes Claros, norte de Minas Gerais, entre 1o de janeiro de 2007 e 31 de dezembro de 2012. Métodos: Foram coletadas, de 395 prontuários clínicos, características sociodemográficas, clínicas e laboratoriais dos pacientes e realizados análise descritiva, teste de qui-quadrado e regressão logística binária. Resultados: Houve maior prevalência de câncer de próstata nos pacientes com 55 a 69 anos (52,5%), com ensino fundamental incompleto (79%), residentes em cidades de baixo Índice de Desenvolvimento Humano (76,2%). A maioria foi procedente de serviços privados (85,1%). Pacientes com história familiar de câncer (59,1%), sintomáticos, foram prevalentes (62,2%). A maioria (78,4%) foi diagnosticada em estágios precoces e nunca havia se submetido ao exame de toque retal (81%). A dosagem do antígeno prostático específico (PSA) recente acima de 10 ng/ml foi detectada em (57,9%) dos pacientes. Foi encontrada uma associação entre escore de Gleason ≥ 7 (odds ratio, OR: 2,21 intervalo de confiança, IC 95% 1,12-4,35), dosagem de PSA elevada (OR 2,36 IC 95% 1,12 - 4,94), e a não realização do toque retal (OR 4,80 IC 95% 1,06-21,66), bem como a presença de sintomas (OR 3,25 IC 95% 1,56-6,75) em câncer de próstata em estágio avançado. Conclusão: Este estudo demonstrou que os homens com câncer de próstata no norte de Minas Gerais, em sua maioria, procuraram o serviço quando já havia presença de sintomas, e que não haviam realizado exames preventivos.

Epidemiological features of patients with nonsyndromic cleft lip and/or palate in Western Parana

Aim: : To describe the clinical, demographic and environmental features associated with NSCL/P(nonsyndromic cleft lip and/or palate) patients born in western Parana state, Brazil. Methods: Thiscross-sectional, observational, retrospective study included 188 patients attended at the Associationof Carriers of Cleft Lip and Palate - APOFILAB, Cascavel-Parana, between 2012 and 2014.Information on demographic characteristics, medical and dental histories and life style factors wereobtained from records and personal interviews. Results: Among the 188 patients, cleft lip and palate(CLP) was the most frequent subtype (55.8%), followed by cleft lip only (CLO, 25.0%) and cleft palateonly (CPO, 19.2%). Caucasian males were the most affected, although no differences among typesof cleft were observed. The otorhinolaryngologic and respiratory alterations were the most frequentsystemic alterations in NSCL/P patients, and more than 80% of the NSCL/P mothers reported novitamin supplements during the first trimester of pregnancy. Conclusions: This study revealed thatthe prevalence of nonsyndromic oral cleft types in this cohort was quite similar to previously reportedprevalence rates. Systemic alterations were identified among 23.4% of the patients and patientswith CLP were the most affected. History of maternal exposition to environmental factors related tononsyndromic oral clefts was frequent and most mothers reported no vitamin supplements duringthe pregnancy. This study highlights the importance of identifying systemic alterations and riskfactors associated with NSCL/P in the Brazilian population for planning comprehensive strategiesand integrated actions for the development of preventive programs and treatment.

Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family

BACKGROUND: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. MATERIAL AND METHODS: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. RESULTS: The pedigree of the family, including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. CONCLUSIONS: These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. Clinical relevance: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1

Evaluating fluctuating asymmetry in a Brazilian population with non-syndromic cleft lip and/or palate.

OBJECTIVE: The objective of this work was to analyse the levels of dermatoglyphic asymmetry between both parents and individuals with non-syndromic cleft lip and/or palate (NSCL/P) and unaffected control trios. METHODS: A case-control analysis was carried out of 51 affected trios (unaffected parents and NSCL/P subjects), and 50 unaffected control trios. Finger and palm prints were taken from each participant, and dermatoglyphic patterns, the number of lines on the digits, and the palmar angles were recorded. To determine the level of fluctuating asymmetry the case group was compared with the control group, significance accepted at p ≤ 0.05. RESULTS: There was a statistically significant difference between the atd angles (angle between the lines triradii a and t and triradii t and d) of fathers of those affected by NSCL/P, and the dermatoglyphic patterns of the affected mothers, with significantly more arches in the control group. However, in this study, multiple comparisons were used, and the results must be evaluated as initial findings and evaluated carefully since the significance disappears after correction for multiple comparisons. Other parameters did not differ between groups. There was no difference in parameters among patients affected by NSCL/P. CONCLUSIONS: Based on these results it is speculated that the mechanisms responsible for the formation of NSCL/P may be associated with those responsible for deviations in the asymmetry of the atd angles in the fathers and dermatoglyphic patterns of the mothers of affected patients. Besides, further studies are required to determine the real relationship between these conditions.

Uncommon oral cleft in Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

Prevalence of depressive symptoms in patients with cleft lip and palate / Prevalência de sintomas depressivos em pacientes com fissuras labiopalatinas

INTRODUCTION: Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face. OBJECTIVE: To evaluate the prevalence of depressive symptoms in children and adolescents with nonsyndromic cleft lip and/or palate (nsCL/P). METHODS: We conducted an observational, case-control study, with a case study group composed of 61 patients with nsCL/P, aged 7-17 years, and a control group of 61clinically normal patients. Both groups were selected at the same institution. RESULTS: Depressive symptoms were observed in the case group (nsCL/P), but there were no statistically significant differences compared to the control group. No association was found between the two groups (case and control) in relation to sociodemographic variables: gender, age and education. CONCLUSIONS: This study identified the prevalence of depressive symptoms in children and adolescents with nsCL/P from a localized geographic population, although the results were not statistically significant when compared to the control group, not justifying the use of CDI (Child Depression Inventory) as a screening instrument for depressive symptoms in the examined population. .

INTRODUÇÃO: Fissuras labiais e/ou palatinas (FL/Ps) representam as anomalias craniofaciais mais comuns. OBJETIVOS: Avaliar a prevalência de sintomas depressivos em crianças e adolescentes não sindrômicos com FL/P (FL/PNS). MÉTODO: Foi realizado um estudo observacional de caso-controle com uma amostra populacional de conveniência, com um grupo caso (61 pacientes com FL/PNS, tendo idades entre 7 a 17 anos) e um grupo controle (61 pacientes clinicamente normais). Ambos os grupos foram selecionados na mesma Instituição. RESULTADOS: Sintomas depressivos foram observados no grupo caso (FL/PNS), mas não houve diferenças estatisticamente significantes quando comparado com o grupo controle. Não foi encontrada associação entre os dois grupos (caso e controle) em relação às variáveis sociodemográficas: gênero, idade e educação. CONCLUSÕES: Este estudo observou a prevalência de sintomas depressivos em crianças e adolescentes com FL/PNS de uma população geográfica localizada, embora os resultados não tenham sido estatisticamente significantes quando comparado com o grupo controle, não justificando assim a utilização de instrumentos rastreadores de sintomas depressivos na população analisada. .

Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome (WHS) is a syndrome with craniofacial and systemic abnormalities, which is related to 4p deletion. A 3-month old girl with an undiagnosed syndrome was referred for evaluation of the cleft lip and palate. Hypotonia, short stature, cardiac malformation, hypertrophied clitoris, and atypical thumb of both hands was observed. Microcephaly, low-set ear, prominent glabella, downslanting palpebral fissures, a characteristic "Greek warrior helmet" appearance, micrognathia, ears with pits/tags and bilateral incomplete cleft lip apart from incomplete cleft palate were observed as craniofacial findings. With clinical diagnosis of WHS, blood was subjected to karyotyping, which showed a 4p15.2 deletion, consistent with the condition. Here is reported the case of this WHS patient with an uncommon oral cleft extending the phenotypic spectrum of the disorder. The child was referred to a multidisciplinary team to reparative surgery of the cleft lip and palate. The patient is on regular medical follow-up and will be further assisted by dentists, physical therapists, occupational therapists and psychologists. The genotype-phenotype correlation of the affected patient with previous WSH syndrome reports is described.

A síndrome de Wolf-Hirschhorn (WHS) é uma condição genética caracterizada por anomalias craniofaciais e sistêmicas, causada por deleção cromossômica na região 4p. Paciente de 3 meses de idade, gênero feminino, foi encaminhada para avaliação de fissura de lábio e fissura palatina, associada a uma síndrome não diagnosticada. A paciente apresentava-se com hipotonia, baixa estatura, malformação cardíaca, clitóris hipertrofiado e implantação atípica do polegar nas duas mãos. Microcefalia, baixa implantação da orelha, glabela proeminente, inclinação baixa das fissuras palpebrais, aparência característica de capacete de guerreiro grego, micrognatia, fossetas em orelhas, fissura labial bilateral incompleta e fissura palatina incompleta foram observadas como características craniofaciais. Com um diagnóstico clínico de WHS, foi realizado o cariótipo, que mostrou a deleção 4p15.2, consistente com a condição. Esse relato de caso apresenta um caso de WHS, com uma fissura oral incomum, ampliando o espectro fenotípico da doença. A paciente foi encaminhada a tratamento com equipe multidisciplinar para correção cirúrgica da fissura labial e palatina. Encontra-se em acompanhamento médico bem como odontológico, fisioterapêutico e em terapia ocupacional e psicológica. Uma correlação entre genótipo e fenótipo pode ser observada nesse relato da síndrome de WHS.

Prevalence of depressive symptoms in patients with cleft lip and palate.

INTRODUCTION: Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face. OBJECTIVE: To evaluate the prevalence of depressive symptoms in children and adolescents with nonsyndromic cleft lip and/or palate (nsCL/P). METHODS: We conducted an observational, case-control study, with a case study group composed of 61 patients with nsCL/P, aged 7-17 years, and a control group of 61 clinically normal patients. Both groups were selected at the same institution. RESULTS: Depressive symptoms were observed in the case group (nsCL/P), but there were no statistically significant differences compared to the control group. No association was found between the two groups (case and control) in relation to sociodemographic variables: gender, age and education. CONCLUSIONS: This study identified the prevalence of depressive symptoms in children and adolescents with nsCL/P from a localized geographic population, although the results were not statistically significant when compared to the control group, not justifying the use of CDI (Child Depression Inventory) as a screening instrument for depressive symptoms in the examined population.

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families

Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partialsyndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in theFGFR2 responsible for PS

Frequency of cancer in first-degree relatives of patients with cleft lip and/or palate in the Brazilian population.

Congenital malformations and cancer may share common etiological factors and the association between nonsyndromic cleft lip and/or palate (NSCL/P) and cancers has been observed in different studies. The objective of this study was to evaluate the frequency of cancer in relatives of patients with NSCL/P. This investigation was a cross-sectional, case-controlled study, evaluating 358 patients with NSCL/P treated at a Referral Center for craniofacial deformities (case group) and 358 patients without craniofacial alterations (control group). Information concerning the gender, age and family history of cancer in first-degree relatives for both groups was obtained. The frequency of cancer was 6.4% (n=46) in the studied population, with 18 subjects in the case group (5%) and 28 (7.8%) in control. In both groups, the most frequently reported cases were those of breast, colorectal, stomach, prostate and uterus cancers, but there was no association between the two groups. There was no association with a family history of cancer among the first-degree relatives (odds ratio=0.62; 95% IC: 0.34 to 1.15), neither when the analysis was made by type of cancer. In conclusion, both epidemiological and genetic studies have suggested common etiological factors for NSCL/P and cancer. However, in this population-based study, no association between cancer and NSCL/P could be confirmed.

Frequency of Cancer in First-Degree Relatives of Patients with Cleft Lip and/or Palate in the Brazilian Population

Congenital malformations and cancer may share common etiological factors and the association between nonsyndromic cleft lip and/or palate (NSCL/P) and cancers has been observed in different studies. The objective of this study was to evaluate the frequency of cancer in relatives of patients with NSCL/P. This investigation was a cross-sectional, case-controlled study, evaluating 358 patients with NSCL/P treated at a Referral Center for craniofacial deformities (case group) and 358 patients without craniofacial alterations (control group). Information concerning the gender, age and family history of cancer in first-degree relatives for both groups was obtained. The frequency of cancer was 6.4% (n=46) in the studied population, with 18 subjects in the case group (5%) and 28 (7.8%) in control. In both groups, the most frequently reported cases were those of breast, colorectal, stomach, prostate and uterus cancers, but there was no association between the two groups. There was no association with a family history of cancer among the first-degree relatives (odds ratio=0.62; 95% IC: 0.34 to 1.15), neither when the analysis was made by type of cancer. In conclusion, both epidemiological and genetic studies have suggested common etiological factors for NSCL/P and cancer. However, in this population-based study, no association between cancer and NSCL/P could be confirmed.

Malformações congênitas e o câncer podem compartilhar fatores etiológicos comuns e a associação entre fissura labial e/ou palatina não sindrômica (FL/PNS) com o câncer tem sido observada em diferentes estudos. O objetivo foi avaliar a frequência de câncer em parentes de pacientes com FL/PNS. Conduziu-se um estudo transversal, do tipo caso-controle, avaliando 358 pacientes com FL/PNS, assistidos em um centro de referência para tratamento de deformidades craniofaciais (grupo caso) e 358 pacientes sem alterações congênitas (grupo controle). Foram obtidas informações a respeito de gênero, idade e histórico familiar de câncer em parentes de primeiro grau para ambos os grupos. A frequência de câncer na população estudada foi de 6,4% (n=46), com 18 históricos no grupo caso (5%) e 28 (7,8%) no grupo controle. Em ambos os grupos, os principais cânceres relatados foram de mama, colorretal, estômago, próstata e útero, mas não houve associação quando comparados os dois grupos. Também não houve associação de histórico familiar de câncer em parentes de primeiro grau (odds ratio=0,62; 95% IC: 0,34 a 1,15), nem quando a análise foi feita pelo tipo de câncer. Estudos epidemiológicos e genéticos têm sugerido fatores etiológicos comuns entre FL/PNS e câncer. Contudo, na população do presente estudo, não se verificou a associação entre câncer e FL/PNS.

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population

Background and Objective: Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in genes involved in the craniofacial development. Design: We carried out a case-control analysis of 13 single nucleotide polymorphisms in 9 genes related to craniofacial development, including TBX1, PVRL1, MID1, RUNX2, TP63, TGFâ3, MSX1, MYH9 and JAG2, in 367patients with NSCL/P and 413 unaffected controls from Brazil to determine their association with NSCL/P. Results: Four out of 13 polymorphisms (rs28649236 and rs4819522 of TBX1, rs7940667 of PVRL1 and rs1057744of JAG2) were presented in our population. Comparisons of allele and genotype frequencies revealed that the Gvariant allele and the AG/GG genotypes of TBX1 rs28649236 occurred in a frequency significantly higher in controls than in the NSCL/P group (OR: 0.41; 95% CI: 0.25-0.67; p=0.0002). The frequencies of rs4819522, rs7940667and rs1057744 minor alleles and genotypes were similar between control and NSCL/P group, without significant differences. No significant associations among cleft types and polymorphisms were observed. Conclusion: The study suggests for the first time evidences to an association of the G allele of TBX1 rs28649236polymorphism and NSCL/P (AU)

Non syndromic cleft lip and palate: relationship between sex and clinical extension.

UNLABELLED: Cleft lip and/or palate represent the most common congenital anomaly of the face. AIM: To describe the correlation between non-syndromic cleft lip and/or palate and gender, and its severity in the Brazilian population. METHODS: Cross-sectional study, between 2009 and 2011, in a sample of 366 patients. The data was analyzed with descriptive statistics and multinomial logistic regression with a 95% interval to estimate the likelihood of the types of cleft lip and/or palate affecting the genders. RESULTS: Among the 366 cases of non-syndromic cleft lip and/or palate, the more frequent clefts were cleft lip and palate, followed respectively by cleft lip and cleft palate. The cleft palates were more frequent in females, while the cleft lip and palate and cleft lips only predominated in males. The risk of cleft li in relation the cleft palate was 2.19 times in males when compared to females; while the risk of cleft lip and palate in relation to cleft palate alone was 2.78 times in males compared to females. CONCLUSION: This study showed that there were differences in the distribution of the non-syndromic cleft lip and/or palate between males and females.

Fissuras lábio palatinas não sindrômicas: relação entre o sexo e a extensão clínica / Non sindromic cleft lip and palate: relationship between sex and clinical extension

A fenda labial e/ou palatina representa a anomalia congênita mais comum na face. OBJETIVO: Descrever a correlação existente entre a fenda labial e/ou palatina não sindrômica e gênero e sua gravidade na população brasileira. MÉTODO: Estudo transversal, conduzido entre 2009 e 2011, em uma amostra de 366 pacientes. Os dados foram analisados com estatística descritiva e regressão logística multinomial com intervalo de 95% para estimar a probabilidade dos tipos de fenda labial e/ou palatina afetar os gêneros. RESULTADOS: Entre os 366 casos de fenda labial e/ou palatina não sindrômica, as fendas mais frequentes foram a fenda lábio-palatina, seguida, respectivamente, pela fenda labial e fenda palatina. As fendas palatinas foram mais frequentes entre as mulheres e a fenda lábio-palatina e fenda labial apenas predominaram nos homens. O risco de fenda labial em relação à fenda palatina foi de 2,19 vezes maior em homens quando comparados às mulheres; enquanto o risco de fenda labial e palatina em relação à fenda palatina apenas foi 2,78 vezes em homens, quando comparados às mulheres. CONCLUSÃO: Este estudo mostrou que há diferenças na distribuição de fendas labiais e/ou palatinas não sindrômicas entre homens e mulheres.

Cleft lip and/or palate represent the most common congenital anomaly of the face. AIM: To describe the correlation between non-syndromic cleft lip and/or palate and gender, and its severity in the Brazilian population. METHODS: Cross-sectional study, between 2009 and 2011, in a sample of 366 patients. The data was analyzed with descriptive statistics and multinomial logistic regression with a 95% interval to estimate the likelihood of the types of cleft lip and/or palate affecting the genders. RESULTS: Among the 366 cases of non-syndromic cleft lip and/or palate, the more frequent clefts were cleft lip and palate, followed respectively by cleft lip and cleft palate. The cleft palates were more frequent in females, while the cleft lip and palate and cleft lips only predominated in males. The risk of cleft li in relation the cleft palate was 2.19 times in males when compared to females; while the risk of cleft lip and palate in relation to cleft palate alone was 2.78 times in males compared to females. CONCLUSION: This study showed that there were differences in the distribution of the non-syndromic cleft lip and/or palate between males and females.

Síndrome de Ellis-van Creveld: achados sistêmicos e orais / Ellis-van Creveld syndrome: systemic and oral findings

Aims: To present a case of Ellis-van Creveld syndrome highlighting the systemic and oral manifestations and expandthe phenotypic spectrum of the disorder.Case description: A 4-year-old female, with an initial diagnosis of Ellis-van Creveld syndrome, was referred for dentaltreatment. The patient had hexadactyly of the hands, thorax disproportionate to the shortened limbs, hypopigmentedand dry skin, short stature, a wide gap between the 1st and 2nd toes of the right foot and markedly dystrophic toenails.The oral manifestations were upper labial frenulum causing large vestibule and absence of diastema, labiogingivalfrenulum, enamel hypoplasia, conical teeth, claw-like cusp, oligodontia, microdontia and malocclusion.Conclusions: Ellis-van Creveld syndrome is one among several syndromes with oral manifestations that demandsthe participation of a multidisciplinary team to better patient assessing, treatment and monitoring. Dentists have theleading role in the control and treatment of the oral manifestations.

Objetivos: Apresentar um relato de caso da síndrome de Ellis-van Creveld, destacando as manifestações sistêmicas e orais e expandindo o espectro fenotípico da doença. Descrição do caso: Uma menina de 4 anos com diagnóstico inicial de síndrome de Ellis-van Creveld foi encaminhada para tratamento odontológico. A paciente apresentava hexadactilia das mãos, tórax encurtado e desproporcional aos membros, cabelo fino, pele hipopigmentada e seca, baixa estatura, espaçamento entre o primeiro e o segundo dedos do pé direito e unhas dos pés acentuadamente distróficas. As manifestações orais foram representadas por freio labial superior amplo causando ausência de vestíbulo e diastema, frênulos labiogengivais, hipoplasia do esmalte, dentes cônicos, cúspide em garra, oligodontia, microdontia e maloclusão. Conclusões: A síndrome de Ellis-van Creveld representa uma entre as diversas síndromes com manifestações orais que demandam a participação de uma equipe multidisciplinar para melhor avaliar, tratar e acompanhar os pacientes. O cirurgião dentista tem o principal papel no controle e tratamento das manifestações orais.