Dental Anomalies and Muscle Segment Homeobox1 Gene Polymorphism in Nonsyndromic Cleft Lip with or without Palate Children

@#This study aims to determine the prevalence of dental anomalies and MSX1 gene 799G>T polymorphism and its association with non-syndromic cleft lip with or without palate (NSCLP) attending Hospital Universiti Sains Malaysia. Clinical and radiological assessments on 37 NSCL±P patients and 80 non-cleft children were done to detect dental anomalies. The buccal cells were collected and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to identify polymorphism. NSCL±P was higher among males (54%) and mostly unilateral cleft lip and palate (51.3%). The prevalence of dental anomalies in morphology in NSCL±P was 18.9% (95% CI: 5.7%, 32.2%) and non-cleft was 6.3% (95% CI: 0.8%, 11.7%). Hypodontia in NSCLP was 75% (95% CI: 61.2%, 90.2%) and non-cleft was 7.5% (95% CI: 1.6%, 13.4%). There was a significant association between NSCLP and anomalies in morphology (P= 0.04; OR=3.5)) and number (P< 0.01; OR= 40). There was an absence of rare 799G>T polymorphism in all NSCL±P and non-cleft children indicating that all samples contain common 799G polymorphism. In conclusion, the prevalence of dental anomalies in morphology and number was significantly higher in NSCL±P compared to non-cleft children. However, it was not significantly associated with MSX1 799G>T polymorphism.

Vírus e fissuras orofaciais: um histórico isolado e de associação / Viruses and orofacial clefts: an isolated and associational history / Virus y fisuras orofaciales: una historia aislada y asociativa

Os vírus são microrganismos comumente associados as doenças e infectam todos os seres vivos. Atuam de forma direta e indireta levando a pressão seletiva, com papel significativo e ainda em exploração no planeta. As fissuras orofaciais são anomalias congênitas de etiologia complexa e multifatorial, sendo as infecções virais durante a gestação um dos possíveis fatores etiológicos. A história da humanidade frente aos vírus e fissuras orofaciais de forma isolada é vasta, remontando a períodos antes de Cristo, seja por meio de leis para o controle de pragas e/ou por lendas de míticas criaturas deificadas e/ou demonizadas, cuja criação está fundamentada na Teoria Alegórica do surgimento das mitologias, demonstrando assim o interesse do ser humano e sua curiosidade em inovação e explicação destes assuntos. Considerando a relevância histórica, bem como a possível relação etiológica destes dois elementos, uma revisão da literatura foi realizada para apresentar a história mitológica e científica dos vírus e fissuras orofaciais, de forma isolada e associadas para fins de comparação. Para isso, foram utilizadas as bases PubMed/Medline, SciElo, LILACS e Portal Periódicos (CAPES) com os descritores: Virus, Anomalias/Anomalies, Virus and Anomalias/Virus and Anomalies, A History of viruses/História dos vírus, Virus and History/História and Virus, Virus and Myth/Virus and Mito, Anomalias and Mitos/Anomalies and Myths, Vampires and Virus/Vampiros and Virus. Enquanto o histórico mitológico é cheio de teorias contraditórias, o histórico cientifico acadêmico se revela coerente, porém resistente as novas áreas de atuação, não ponderando novas possibilidades e limitando a exploração científica, que só pôde ser alcançada nos séculos atuais. Quanto a associação, a linha de pesquisa relacionando vírus e fissuras orofaciais não possui nem meio século de existência, propiciando um grande campo a ser explorado e na mesma medida limitando os benefícios em prevenção que poderiam ser obtidos através destes estudos.

Viruses are microorganisms commonly associated with diseases that infect all living beings, they act directly and indirectly leading to selective pressure, their role on the planet is significant and still under exploration. Orofacial clefts are congenital anomalies that have a complex multifactorial etiology, with viral infections during pregnancy being one of the possible etiological factors. The history of humanity in the face of viruses and orofacial clefts in isolation is vast, dating back to periods before Christ, whether through laws for pest control and/or legends of mythical deified and/or demonized creatures, whose creation is fundamentalized in the Allegorical Theory of the emergence of mythologies, thus demonstrating the interest of human beings and their curiosity in innovation and explanation of these subjects. Considering the historical relevance, as well as the possible etiology relationship of these two elements, we carried out a literature review to present the mythological and scientific history of viruses and orofacial clefts, isolated and associated for comparison purposes. For this intent, the bases PubMed/Medline, SciElo, LILACS and Portal Periódicos (CAPES) were selected with the descriptors: A History of viruses/História dos vírus, Virus and History/História and Virus, Virus and Myth/Virus and Mito, Anomalias and Mitos/Anomalies and Myths, Vampires and Virus/Vampiros and Virus. While the mythological history is full of contradictory theories, the academic, scientific history proves to be consistent, but resistant to new areas of action, not considering new possibilities and limiting scientific exploration, which can only be achieved in the present centuries. As for the association, the line of research relating viruses and orofacial clefts does not even have half a century of existence, providing a large field to be explored and at the same time limiting the benefits of prevention that could be obtained through these studies.

Los virus son microorganismos comúnmente asociados a enfermedades que infectan a todos los seres vivos, actúan directa e indirectamente provocando presión selectiva, su papel en el planeta es significativo y aún en exploración. Las hendiduras orofaciales son anomalías congénitas que tienen una compleja etiología multifactorial, siendo las infecciones virales durante el embarazo uno de los posibles factores etiológicos. La historia de la humanidad frente a los virus y las hendiduras orofaciales de forma aislada es vasta, remontándose a períodos anteriores a Cristo, ya sea a través de leyes para el control de plagas y/o leyendas de criaturas míticas deificadas y/o demonizadas, cuya creación se fundamentaliza en la Teoría Alegórica del surgimiento de las mitologías, demostrando así el interés del ser humano y su curiosidad en la innovación y explicación de estos temas. Considerando la relevancia histórica, así como la posible relación etiológica de estos dos elementos, realizamos una revisión bibliográfica para presentar la historia mitológica y científica de los virus y las hendiduras orofaciales, aislados y asociados para fines de comparación. Para ello, se seleccionaron las bases PubMed/Medline, SciElo, LILACS y Portal Periódicos (CAPES) con los descriptores: A History of viruses/História dos vírus, Virus and History/História and Virus, Virus and Myth/Virus and Mito, Anomalias and Mitos/Anomalías y Mitos, Vampiros and Virus/Vampiros y Virus. Mientras que la historia mitológica está llena de teorías contradictorias, la historia académica, científica, se muestra coherente, pero resistente a nuevos campos de actuación, no considerando nuevas posibilidades y limitando la exploración científica, que sólo puede alcanzarse en los siglos actuales. En cuanto a la asociación, la línea de investigación que relaciona virus y hendiduras orofaciales no tiene ni medio siglo de existencia, proporcionando un gran campo a ser explorado y al mismo tiempo limitando los beneficios de prevención que podrían ser obtenidos a través de estos estudios.

Análise Descritiva da Ocorrência de Fenda Orofacial ­ Série Histórica de 2007 a 2016 no Sul do Brasil / Descriptive Analysis of the Occurrence of Orofacial Cleft - Historical Series from 2007 to 2016 in Southern Brazil

Introdução: Entre a quarta e décima segunda semana de gestação, ocorre o desenvolvimento da cavidade bucal e da face. Caso aconteça alguma desordem nesse período, acarretará a formação de fissuras labiopalatinas, uma das mais frequentes anomalias congênitas orofaciais. Este estudo teve como objetivo analisar a tendência temporal de fissura labiopalatina no sul do Brasil, durante o período de 2007-2016, e caracterizar o perfil epidemiológico do recém-nascido e da mãe dos portadores dessa malformação. Métodos: Estudo descritivo de tipo ecológico, tendo como fonte de dados o Sistema de Informações de Nascidos Vivos (SINASC). Foram pesquisados 3203 nascimentos com fenda orofacial no sul do Brasil durante o período estudado. Resultados: Observou-se uma homogeneidade em relação à incidência dessa malformação nos três estados estudados ­ 8,39 casos a cada 10.000 nascimentos, com leve predomínio em Santa Catarina. Quanto ao perfil epidemiológico dos recém-nascidos, notou-se uma incidência 37% maior no sexo masculino do que no sexo feminino. Além disso, a incidência dessa malformação ocorreu mais em indivíduos com baixo peso ao nascer e em prematuros. Em relação ao perfil epidemiológico das mães dos recém-nascidos com fissura labiopalatina, a idade materna apresentou um pico bimodal, com incidência 21% maior em mulheres com menos de 14 anos do que com mais de 35 anos. Conclusão: Este estudo demonstrou fatores de risco para fissura labiopalatina como: sexo masculino, baixo peso ao nascer, parto cesário, pré-natal incompleto, prematuridade, extremos de idade materna e baixo grau de instrução materna.

Introduction: Between the fourth and twelfth week of gestation, the development of the oral cavity and face occurs. If any disorder occurs during this period, it will lead to cleft lip and palate formation, one of the most frequent congenital orofacial anomalies. This study aimed to analyze the temporal trend of cleft lip and palate in southern Brazil from 2007 to 2016 and to characterize the epidemiological profile of the newborn and the mother of carriers of this malformation. Methods: A descriptive study of ecological type using the Live Births Information System (SINASC) as a data source. A total of 3203 births with orofacial cleft were surveyed in southern Brazil during the period studied. Results: Homogeneity was observed regarding the incidence of this malformation in the three states studied - 8.39 cases per 10,000 births, with a slight predominance in Santa Catarina. Concerning the epidemiological profile of the newborns, we observed a 37% higher incidence in males than in females, and the incidence of this malformation occurred more in individuals with low birth weight and premature babies. Regarding the epidemiological profile of mothers of newborns with cleft lip and palate, maternal age showed a bimodal peak, with a 21% higher incidence in women aged under 14 than in those over 35. Conclusion: This study demonstrated risk factors for cleft lip and palate, such as male gender, low birth weight, cesarean delivery, incomplete prenatal care, prematurity, extremes of maternal age, and low maternal education.

A Review on Evolution and Controversies Regarding Surgical Methods and Timing of Palatoplasty in UCLP Cases

To establish speech, growth and development of maxillofacial region and hearing etc. towards normal is the aim of every professional working for cleft care. With a quest to attain and normalize the growth and development in CLP since ages, researchers and workers have invented and still inventing newer technique to treat them. The procedure of surgeries has evolved over a period of time. Controversies concerning speech and maxillofacial growth have challenged many surgeons who have come up with different views in surgical methods. Studies suggest that the palate repair is the main cause of the maxilla and growth disturbance that later is responsible for speech impairment due to fibrous tissue in anterior palate and constricted tissue in uvula due to repair. Many authors have noted that delayed hard palate repair has more positive effects on maxillary growth than that of early hard palate repair, but studies have also proved that late palate repair impair the speech with due respect. This unsolved controversy whether to opt for late/ early palatoplasty w.r.t to the improvement in speech is still unsolved controversy. The purpose of this article is to review the history of cleft palate surgery, its evolution, various surgical methods and optimal timing of cleft palate repair.

Abordagem fonoaudiológica nas fissuras orofaciais não sindrômicas: revisão de literatura / Speech pathology treatment on nonsyndromic orofacial clefts: literature review

A fi ssura labiopalatina é uma malformação comum que ocorre em virtude da falta de fusão dos processos embrionários que formam a face e o palato. A avaliação e o tratamento voltados à fi ssura labiopalatina envolvem uma equipe multidisciplinar que contempla, entre outras especialidades, cirurgião-plástico, fonoaudiólogo, ortodontista, cirurgião-bucomaxilofacial, cirurgião-dentista, odontopediatra, otorrinolaringologista e psicólogo. Desse modo, por meio da assistência com profi ssionais especializados, é possível alcançar resultados estéticos e funcionais satisfatórios, proporcionando interações sociais mais efetivas e consequentemente melhor qualidade de vida ao fi ssurado. O objetivo deste trabalho é apresentar alguns dos princípios da ação do fonoaudiólogo nas fi ssuras orofaciais não sindrômicas, destacando-se a avaliação e terapia voltadas à função alimentar, mecanismo velofaríngeo e aspectos articulatórios da fala. Para tanto, procedeu-se a uma revisão narrativa da literatura. Como critério de inclusão dos trabalhos, consideraram-se publicações em coletâneas de repercussão na área fonoaudiológica e manuscritos que contemplassem os seguintes temas: aleitamento, orientações pré e pós-cirúrgicas, articulações compensatórias, função velofaríngea e terapia fonoaudiológica.

Cleft lip and palate is a common defect that occurs due to the lack of fusion of embryonic processes that form the face and the palate. Evaluation and treatment for cleft lip and palate involve an interdisciplinary team that includes, among other specialties, plastic surgeon, speech-language therapist, otorhinolaryngology, audiologist, orthodontist, maxillofacial surgeon and psychologist. Thus, through assistance with specialized professionals, it is possible to achieve satisfactory results, providing more effective social interactions and consequently better quality of life to subject with cleft lip and palate. The aim of this paper is to present some of the speech-language therapist's action principles on typical orofacial clefts, emphasizing the evaluation and therapy focused on food function, velopharyngeal mechanism and articulatory aspects of speech. Therefore, we proceeded to a literature review. For the inclusion of the papers, the following topics were considered: breastfeeding, pre and post-surgical guidelines, compensatory articulation, velopharyngeal function and speech-language therapy

Acción de tutela y barreras de acceso a servicios de salud en labio y/o paladar hendido / Tutela and acces barriers to helth services to cleft lip and palate / Ação de tutela 1 e barreiras de acesso aos serviços de saude em pacientes com fissuras labiopalatinas

La investigación busca identificar barreras de acceso a servicios de salud para la atención integral de pacientes con labio y/o \r\npaladar hendido (LPH) a partir del análisis de acciones de tutela relacionadas con esta condición en un periodo de veinte años: \r\n1994-2014. Se identificaron tutelas interpuestas por familiares de niños con LPH; se construyó una matriz para organizar los datos \r\nmás relevantes (motivos de tutela, fallo y consideraciones para este); posteriormente, se hizo un análisis para identificar las barreras \r\ny la manera como la justicia resuelve la solicitud. En total, se analizaron once fallos de tutela. El principal motivo para interponerlas \r\nfue la negación por parte de la entidad promotora de salud de tratamientos para LPH por no encontrarse incluidos en el plan de \r\natención en salud (catalogados como estéticos) o por falta de infraestructura para su atención. Cinco de ellas fueron negadas por \r\nrazones administrativas o procedimentales, por dificultades en la afiliación a una entidad de salud o porque cesaron los efectos \r\nque motivaron la tutela. En las tutelas aceptadas, se obliga a realizar la atención integral, considerando la garantía del derecho a la \r\nsalud en conexidad con los derechos a la vida, la dignidad y los derechos de los niños. Conclusión: la principal barrera de atención para pacientes con LPH se relaciona con el hecho de que algunos tratamientos no están incluidos en el plan de atención en salud \r\nde Colombia; por tanto la acción de tutela, a la luz del derecho a la salud, permite aclarar imprecisiones del Sistema General de \r\nSeguridad Social y superar las barreras en la atención de individuos con labio y/o paladar hendido.

Objective: to identify access barriers to health services to \r\nachieve comprehensive care of patients with Cleft Lip and/or \r\nPalate (CLP), based on a "tutela," or writ of fundamental rights, \r\nanalysis related with this condition in a 20-year period, from \r\n1994 to 2014. Materials and methods: tutelas from parents of \r\nchildren with CLP were identified; a matrix to organize the \r\nrelevant data (reasons for the tutela, verdict and related consid\r\n-\r\nerations) was developed and an analysis carried out to identify \r\nthe barriers and how the issues were legally resolved. Results: \r\nthere were 11 tutelas reviewed and the main reasons for their \r\nfilings were: negation of treatment for conditions related to \r\nCLP, as they were not included in the health plan that regarded \r\nthe treatment as aesthetic intervention, or due to lack of infra\r\n-\r\nstructure for their attention. Five were denied due to lack of \r\nawareness of the attending agency, difficulties in affiliation to \r\na health provider, or due to cessation of the effects that led \r\nto the tutela. In those, which were accepted, comprehensive \r\nhealth was mandated, taking into consideration the right of \r\naccess to health in relation to the rights of life, dignity and chil\r\n-\r\ndren's rights. Conclusion: the main barrier to care for patients \r\nwith CLP is related to the fact that some treatments are not \r\nincluded in the health care plan of Colombia; therefore the \r\ntutela, in light of the right to health, can clarify ambiguites of \r\nthe General System of Social Security and overcome barriers in \r\nthe care of individuals with cleft lip and/or palate.

Objetivo: identificar barreiras de acesso aos serviços de saúde \r\npara atenção integral de pacientes com fissuras labiopalatinas \r\n(FLPs), partindo da análise das ações do procedimento cons\r\n-\r\ntitucional relacionadas com essa condição, em um período \r\nde 20 anos: 1994-2014. Materiais e métodos: identificaram-se \r\nprocedimentos constitucionais interpostos pela família das \r\ncrianças com FLPs; foi criada uma matriz para organizar os \r\ndados mais relevantes (motivos do procedimento constitu\r\n-\r\ncional, conclusão e considerações para esta) logo, foi feita uma \r\nanálise para identificar as barreiras e o modo como a justiça \r\nas resolve. Resultados: foram analisados 11 procedimentos \r\nconstitucionais. As principais razões para interpô-los: negação \r\ndos tratamentos para FLPs, por não se encontrarem inclusas \r\nno plano de saúde (estéticos) ou pela ausência de infraestru\r\n-\r\ntura para seu atendimento. Cinco deles foram negados: pelo \r\ndesconhecimento perante à entidade encarregada da atenção, \r\ndificuldades na afiliação a um plano de saúde ou porque \r\ncessaram os efeitos que os motivaram. Nos aceitos, obriga-\r\nse a realizar a atenção integral, considerando-se a garantia \r\ndo direito em conexão com os direitos à vida, dignidade e \r\ndireitos das crianças. Conclusão: A principal barreira para cuidar \r\nde pacientes com FLP está relacionado com o fato de que \r\nalguns tratamentos não estão incluídos no plano de saúde \r\nda Colômbia; portanto, a tutela, à luz do direito à saúde, pode \r\nesclarecer imprecisões do Regime Geral da Segurança Social \r\ne superar as barreiras no cuidado aos indivíduos com fissuras \r\nlabiopalatinas.

EEC Syndrome: A rare entity

Ectrodactyly, Ectodermal dysplasia and Cleft lip/palate (EEC) syndrome is a rare combination of multiple congenital anomalies. Although the anomalies are diverse, the underlying problem arise from early embryonic ectodermal tissue defects or insults. We report a case of a baby boy who was born at 33 weeks of gestation with EEC syndrome. He died five months later of aspiration pneumonia. The management requires a multidisciplinary approach and proper parental counseling which should include risk of recurrence in future pregnancies. Prenatal diagnosis is possible by antenatal ultrasound scan at 14-16 weeks of gestation.

Síndrome de ectrodactilia, displasia ectodérmica y labio-paladar hendidos / Syndrome of Ectrodactylism, ectodermic dysplasia and lip-cleft palate

El presente trabajo se propone reportar a un paciente masculino de 12 años de edad con presencia de la tríada completa del síndrome ectrodactilia, displasia ectodérmica y labio-paladar hendidos (EEC); señalar los hallazgos clínicos encontrados en las valoraciones, así como los tratamientos realizados. Es un síndrome autonómico dominante, con penetración incompleta y expresividad variable. Esta conjunción de signos y síntomas puede llevar a la confusión con otro tipo de entidades clínicas, y ocasionar un diagnóstico erróneo del paciente. La hendidura de labio y ausencia del conducto lagrimal no es una combinación usual en otras condiciones. Se hace mención de las manifestaciones clínicas reportadas en la literatura, y se enfatiza en las manifestaciones maxilofaciales y dentales. Los dos hermanos del paciente se consideraron normales o exentos de este síndrome(AU)

In present paper is reported the case of a patient presenting with the complete triad of Ectrodactylism syndrome, ectodermic dysplasia and lip-cleft palate, to mention the clinical findings present in assessments as well as the treatments applied. The syndrome is characterized by the triad Ectrodactylism, ectodermic dysplasia and cleft (EEC) and it is autosomal dominant with incomplete penetration and a variable expressiveness. This group of signs and symptoms may be cofounded with other clinical entities, leading to a mistake diagnosis of patient. Lip cleft and lack of lacrimal duct is not a usual combination in other conditions. This is the clinical case of a male patient aged 12 with the syndrome of: Ectrodactylism, ectodermic dysplasia and lip-cleft palate. Clinical manifestations reported in literature are mentioned emphasizing the maxillofacial and dental manifestations. The two brothers of patient were normal or free of this syndrome. It is very important that the professionals charged of oral and maxillofacial health, as well the Stomatology students of Bachelor degree of postgraduate level, be able to identify, diagnose and to work in a multidisciplinary way to arrive to definite diagnosis of patients presenting with EEC syndrome and to apply the appropriate treatments(AU)

A Three-Dimensional Computed Tomography Analysis of Craniofacial Asymmetry in Malaysian Infants with Cleft Lip and Palate

Background: The application of three-dimensional computed tomography (3D CT) to analyse craniofacial morphology in individuals with cleft lip and palate (CLP) enables detailed assessments to be made of asymmetry in the region of the cleft and in regions distant from the cleft. The aim of this study was to compare craniofacial morphology in a sample of Malaysian infants with unoperated CLP with a control sample of unaffected Malaysian infants. Methods: The study sample comprised 29 individuals: 10 with unilateral CLP (UCLP), 5 with bilateral CLP (BCLP), 7 with cleft lip and primary palate (CLPP), and 7 with isolated cleft palate (ICP). The control sample consisted of 12 non-cleft (NC) infants. All subjects were between 0.4 and 12.2 months of age. Nine mid-facial and 4 nasal bone landmarks were located on 3D CT scans and compared to a midline reference plane, which was created using the landmarks basion, sella, and nasion. Unpaired t tests and F tests were used to compare means and variances between sample groups, whereas paired t tests were used for comparisons within the UCLP and NC groups. Results: Differences in variances of some mid-facial breadths and nasal bone dimensions were found in both male and female cleft groups when compared to the NC sample. In the UCLP group, some nasal bone and facial breadth dimensions were larger than in the NC sample and the nasal bone tended to deviate to the contralateral side of the cleft. Conclusion: : CLP affects the size and orientation of the nasal bones and is associated with an altered morphology of some facial bones at positions distant from the region of the cleft.

Dental caries and congenital cleft lip, cleft palate of 6-12 year old age children treated at the odonto-maxillo-facial department of Hue Central hospital in the years 1999-2004

The DEVIEMED programme (Joint programme of Vietnam and Germay) realization showed the state of caries among 210 children aged 6-12 years old with congenital defect of palatine clef and hare-lip treated at Hue Central Hospital in 1999-2004 year period. The prevalence of caries in children with palatine clef and hare lip was 70.5%, prevalence of los teeth 18.4%, of stoped teeth 6.2%. The detection, management dental congenital defect and the dental care services needed to improve at all levels.