Exploring the role of the WNT5A rs566926 polymorphism and its interactions in non-syndromic orofacial cleft: a multicenter study in Brazil

Abstract Associations between the WNT5A rs566926 variant and non-syndromic orofacial cleft (NSOC) have been reported in different populations. Objective This study aimed to investigate the role of the rs566926 single nucleotide polymorphism (SNP) in WNT5A and its interactions with SNPs in BMP4, FGFR1, GREM1, MMP2, and WNT3 in the occurrence of NSOC in a Brazilian population. Methodology A case-control genetic association study was carried out involving participants from four regions of Brazil, totaling 801 patients with non-syndromic cleft lip with or without cleft palate (NSCL±P), 273 patients with cleft palate only (NSCPO), and 881 health volunteers without any congenital condition (control). Applying TaqMan allelic discrimination assays, we evaluated WNT5A rs566926 in an ancestry-structured multiple logistic regression analysis, considering sex and genomic ancestry as covariates. Interactions between rs566926 and variants in genes involved in the WNT5A signaling pathway (BMP4, FGFR1, GREM1, MMP2, and WNT3) were also explored. Results WNT5A rs566926 was significantly associated with an increased risk of NSCL±P, particularly due to a strong association with non-syndromic cleft lip only (NSCLO), in which the C allele increased the risk by 32% (OR: 1.32, 95% CI: 1.04-1.67, p=0.01). According to the proportions of European and African genomic ancestry, the association of rs566926 reached significant levels only in patients with European ancestry. Multiple interactions were detected between WNT5A rs566926 and BMP4 rs2071047, GREM1 rs16969681 and rs16969862, and FGFR1 rs7829058. Conclusion The WNT5A rs566926 polymorphism was associated with NSCL±P, particularly in individuals with NSCLO and high European ancestry. Epistatic interactions involving WNT5A rs566926 and variants in BMP4, GREM1, and FGFR1 may contribute to the risk of NSCL±P in the Brazilian population.

Epidemiologic profile and prevalence of live births with orofacial cleft in Brazil: a descriptive study / Perfil epidemiológico e prevalência de nascidos vivos com fissura orofacial no Brasil: um estudo descritivo

ABSTRACT Objective: To describe the epidemiological profile and prevalence of live births with orofacial clefts in Brazil between 1999 and 2020. Methods: Descriptive study. The population corresponded to live births with isolated orofacial clefts in Brazil registered in the Live Birth Information System between 1999 and 2020. Descriptive variables were selected according to their availability and grouped into socioeconomic and demographic, maternal and child health care, and biological variables. Data were submitted to a descriptive analysis using the Software for Statistics and Data Science (STATA). Results: During the period, 33,699 children were born with orofacial clefts, and 82.1% (27,677) of them were isolated clefts. Regarding these cases, the majority were cleft lip and palate (9,619 or 34.7%), followed by cleft palate (9,442 or 34.1%), and by cleft lip (8,616 or 31.3%). Conclusions: Live births with orofacial clefts in Brazil were male, white, with birthweight ≥2,500 g and gestational age ≥37 weeks, born by cesarean section, and with Apgar scores ≥7. The cases were more frequent among mothers who were in their first and single pregnancy and had seven or more prenatal appointments. The mothers were 20 and 29 years old, had eight to ten years of study, and were single. The national prevalence of clefts was 4.24/10,000. The South and Southeast regions of Brazil had the highest prevalence, while the lowest prevalence was recorded in the Northeast and North regions. For the Federative Units, the highest and lowest prevalences were found, respectively, in Paraná and Acre.

RESUMO Objetivo: Descrever o perfil epidemiológico e a prevalência dos nascidos vivos com fissuras orofaciais no Brasil entre 1999 e 2020. Métodos: Estudo descritivo. A população correspondeu aos nascidos vivos com fissuras orofaciais isoladas no Brasil registrados no Sistema de Informação de Nascidos Vivos entre 1999 e 2020. As variáveis descritivas foram selecionadas de acordo com a sua disponibilidade e agrupadas em variáveis socioeconômicas e demográficas, de atenção à saúde materno-infantil e biológicas. Os dados foram submetidos a análise descritiva utilizando o Software for Statistics and Data Science (STATA). Resultados: No período, 33.699 indivíduos nasceram com fissura orofacial no Brasil, e 82,1% (27.677) deles foram fissuras isoladas. Com relação a esses casos, a maioria foi de fissuras de lábio e palato (9.619 ou 34,7%), seguidas por fissura de palato (9.442 ou 34,1%) e por fissura de lábio (8.616 ou 31,1%). Conclusões: O perfil epidemiológico dos nascidos vivos com fissuras orofaciais no Brasil foi de nascidos do sexo masculino, da raça/cor branca, por parto cesáreo, com peso ao nascer ≥2,500 g, idade gestacional ≥37 semanas e com índices de Apgar ≥7. Os casos foram mais frequentes entre mães que estavam na primeira gestação, única e que haviam realizado sete ou mais consultas de pré-natal. As mães, com maior frequência, tinham entre 20 e 29 anos, apresentavam oito ou mais anos de estudo, eram solteiras e residiam em cidades do interior. A prevalência nacional de fissuras foi de 4,24/10.000. As Regiões Sul e Sudeste apresentaram as maiores prevalências, enquanto as menores foram registradas nas Regiões Nordeste e Norte. Para as Unidades Federativas, as maiores e menores prevalências foram encontradas, respectivamente, no Paraná e no Acre.

Itinerário terapêutico de crianças com fissura labiopalatina / Itinerario terapéutico del niño con labio y paladar hendido / Therapeutic itinerary of children with cleft lip and palate

Resumo Objetivo conhecer o itinerário terapêutico de crianças com fissuras de lábio e/ou palato. Método estudo descritivo de natureza qualitativa realizado com famílias de crianças com fissura labiopalatina. A coleta de dados ocorreu entre junho e julho de 2022 por meio de entrevistas semiestruturadas, e aplicou-se a análise de conteúdo temática. Resultados participaram oito famílias e emergiram três categorias: I) Enfrentando o desconhecido: diagnóstico de fissura labiopalatina na criança - notaram-se sentimentos de choque, medo e incerteza que permeiam durante o diagnóstico precoce ou tardio; II) Um caminho árduo: pausas e recomeços durante o itinerário terapêutico - observou-se que as famílias percorreram caminhos diferentes devido à especificidade da configuração familiar e da própria fissura; III) Tecendo a rede de apoio para o cuidado - mostrou-se ser de extrema necessidade o apoio dos amigos, família, profissionais e instituições de saúde. Conclusões e implicações para prática o itinerário terapêutico de crianças com fissura labiopalatina é árduo e acompanhado de desafios, que se iniciam no diagnóstico e permanecem após o nascimento. Espera-se que os resultados deste estudo suscitem o diálogo entre os profissionais de saúde e se familiarizem com as necessidades dessa população e possam atuar nos diferentes pontos de atenção à saúde.

Resumen Objetivo conocer el itinerario terapéutico de los niños con labio hendido y/o paladar hendido. Método estudio cualitativo descriptivo realizado con familias de niños con labio y paladar hendido. La recolección de datos se realizó entre junio y julio de 2022 mediante entrevistas semiestructuradas, y se aplicó análisis de contenido temático. Resultados participaron ocho familias y surgieron tres categorías: I) Frente a lo desconocido: diagnóstico de labio y paladar hendido en niños: se observaron sentimientos de shock, miedo e incertidumbre que permean durante el diagnóstico temprano o tardío; II) Un camino arduo: pausas e inicios durante el itinerario terapéutico - se observó que las familias siguieron caminos diferentes debido a la especificidad de la configuración familiar y de la propia hendidura; III) Tejer la red de apoyo para la atención: el apoyo de amigos, familiares, profesionales e instituciones de salud resultó ser extremadamente necesario. Conclusiones e implicaciones para la práctica el itinerario terapéutico de los niños con labio y paladar hendido es arduo y está acompañado de desafíos, que comienzan desde el diagnóstico y continúan después del nacimiento. Se espera que los resultados de este estudio fomenten el diálogo entre los profesionales de la salud y conozcan las necesidades de esta población y puedan actuar en los diferentes puntos de la atención en salud.

Abstract Objective to understand the therapeutic itinerary of children with cleft lip and/or palate. Method a descriptive qualitative study carried out with families of children with cleft lip and palate. Data collection took place between June and July 2022 through semi-structured interviews, and thematic content analysis was applied. Results eight families participated and three categories emerged: I) Facing the unknown: diagnosis of cleft lip and palate in children - feelings of shock, fear and uncertainty were noted that permeate during early or late diagnosis; II) An arduous path: pauses and beginnings during the therapeutic itinerary - it was observed that the families followed different paths due to the specificity of the family configuration and the cleft itself; III) Weaving the support network for care - support from friends, family, professionals and health institutions proved to be extremely necessary. Conclusions and implications for practice the therapeutic itinerary of children with cleft lip and palate is arduous and followed by challenges, which begin at diagnosis and continue after birth. It is hoped that the results of this study will encourage dialogue among health professionals and become familiar with the needs of this population and be able to act at different points of health care.

Satisfacción posterior a la intervención quirúrgica en pacientes con labio y paladar hendido en el Hospital Central Militar / Satisfaction after surgical intervention in patients with cleft lip and palate at the Hospital Central Militar

Resumen Objetivo: Conocer el nivel de satisfacción percibido en pacientes posoperados con labio y paladar hendido conforme al resultado estético y funcional en el Hospital Central Militar. Metodología: Se procedió a realizar cuestionario Cleft Q en la consulta externa de reconstrucción del Hospital Central Militar a los pacientes posoperados con labio y paladar hendido y sus padres, otorgándole un tiempo aproximado de 20 minutos para su llenado bajo supervisión directa, se recabaron los resultados obtenidos para posteriormente proceder al análisis estadístico descriptivo. Resultados: Los resultados en la esfera "apariencia" sugieren que los pacientes están más satisfechos con la apariencia de la cicatriz de queiloplastia después de la cirugía. Respecto a la esfera de funcionalidad facial, se observa que la función de comer y beber resultó con una puntuación más satisfactoria. Hablando de la calidad de vida relacionada con la salud, la función escolar resultó con mayor puntuación. Limitaciones del estudio o implicaciones: Ninguna. Originalidad o valor: Es el primer estudio realizado en el Hospital Central Militar valorando la satisfacción quirúrgica en pacientes con labio y paladar hedido. Conclusiones: Los resultados de las esferas anteriores sugieren que los pacientes intervenidos en un tratamiento quirúrgico reconstructivo presentan mejoría con su apariencia, en la funciona de comer y hablar, así como la calidad de para socializar y desarrollarse en la escuela.

Abstract: Objective: To know the level of satisfaction perceived in postoperative patients with cleft lip and palate according to the aesthetic and functional result at the Hospital Central Militar. Methodology: The Cleft Q questionnaire was carried out in the reconstruction outpatient clinic of the Hospital Central Militar for postoperative patients with cleft lip and palate and their parents, giving it an approximate time of 20 minutes to fill it out under direct supervision, the results were collected. obtained to later proceed to the descriptive statistical analysis. Results: The results in the "appearance" sphere suggest that patients are more satisfied with the appearance of the cheiloplasty scar after surgery. Regarding the sphere of facial functionality, it is observed that the function of eating and drinking resulted in a more satisfactory score. Talking about the quality of life related to health, the school function resulted in a higher score. Study limitations or implications: None. Originality or value: It is the first study carried out in the Hospital Central Militar assessing surgical satisfaction in patients with cleft lip and palate. Conclusions: The results of the previous areas suggest that patients undergoing reconstructive surgical treatment present improvement with their appearance, improvement. In the function of eating and speaking, as well as the quality of socializing and development in school.

Investigación en fisuras faciales: quo vadis España? / Investigation in facial fissures: quo vadis Spain?

Las fisuras orofaciales representan un grupo heterogéneo de malformaciones congénitas que afectan a distintas estructuras de la cavidad oral y de la cara. Globalmente, los bebés con estos trastornos presentan una mayor morbilidad y mortalidad a lo largo de su vida en comparación con individuos no afectados. Por ello, los avances en la investigación biomédica resultan ineludibles. Así, el objetivo general de este trabajo fue llevar a cabo una revisión bibliográfica para analizar narrativamente los 10 principales estudios primarios sobre fisuras orofaciales llevados a cabo en España, publicados del 2018 hasta la actualidad. Según esto, a nivel institucional, destaca la Universidad Complutense de Madrid (UCM) con cuatro artículos publicados por el grupo de investigación UCM 920202. También sobresale la Universidad Rey Juan Carlos de Madrid, con tres artículos relacionados con diferentes aspectos de la personalidad y la calidad de vida de los pacientes fisurados, así como otras muchas variables cognitivo-emocionales. En relación con la Universidad de Valencia, encontramos dos artículos llevados a cabo en amplias muestras de pacientes con fisuras. Por último, en Barcelona resulta destacable un estudio observacional sobre problemas otorrinolaringológicos en pacientes operados de fisura palatina. En conclusión, si bien en los últimos años se han publicado varios artículos sobre distintos aspectos relacionados con las fisuras, aún queda mucho trabajo por hacer. España debería seguir potenciando proyectos con líneas de trabajo centradas en estas alteraciones del desarrollo craneofacial. Se necesitan estudios amplios, multicéntricos y colaborativos, para ahondar en los mecanismos etiológicos y, en última instancia, en las posibles herramientas para su prevención. Del mismo modo, se necesitan ayudas para dilucidar mejor las cuestiones relacionadas con los tratamientos en todas las dimensiones de la salud, preferentemente a partir de ensayos clínicos controlados aleatorizados, que faciliten la traslación de conocimientos y su accesibilidad universal dentro del sistema sanitario público español.

SUMMARY: Orofacial clefts represent a heterogeneous group of congenital malformations affecting different structures of the oral cavity and face. Overall, infants with these disorders have a higher lifetime morbidity and mortality compared to unaffected individuals. Therefore, advances in biomedical research are unavoidable. Thus, the overall objective of this work was to conduct a literature review to narratively analyse the 10 main primary studies on orofacial clefts carried out in Spain, published from 2018 to date. According to this review, at an institutional level, the Complutense University of Madrid (UCM) is notable with 4 articles published by the UCM 920202 research group. The Rey Juan Carlos University of Madrid also stands out, with three papers related to different aspects of the personality and quality of life of cleft patients, as well as many other cognitive-emotional variables. In relation to the University of Valencia, we found two studies carried out on large samples of cleft patients. Finally, in Barcelona, an observational study on otorhinolaryngological problems in cleft palate patients is noteworthy. In conclusion, although several studies have been published in recent years on different aspects related to clefts, there is still much work to be done. Spain should craniofacial development. Large, multicenter and collaborative studies are needed to delve deeper into the aetiological mechanisms and, ultimately, into the possible tools for their prevention. Similarly, support is needed to better elucidate questions related to treatments in all dimensions of health, preferably randomised controlled clinical trials, which facilitate the transfer of knowledge and its universal accessibility within the Spanish public health system.

Influence of an Intensive Speech Therapy Program on the Speech of Individuals with Cleft Lip and Palate

Abstract Introduction Compensatory articulations are speech disorders due to the attempt of the individual with cleft palate/velopharyngeal dysfunction to generate intraoral pressure to produce high-pressure consonants. Speech therapy is the indicated intervention for their correction, and an intensive speech therapy meets the facilitating conditions for the correction of glottal stop articulation, which is the most common compensatory articulation. Objective To investigate the influence of an intensive speech therapy program (ISTP) to correct glottal stop articulation in the speech of individuals with cleft palate. Methods Speech recordings of 37 operated cleft palate participants of both genders (mean age = 19 years old) were rated by 3 experienced speech/language pathologists. Their task was to rate the presence and absence of glottal stops in the 6 Brazilian Portuguese occlusive consonants (p, b, t, d, k, g) distributed within several places in 6 sentences. Results Out of the 325 pretherapy target consonants rated with glottal stop, 197 (61%) remained with this error, and 128 (39%) no longer presented it. The comparison of the pre- and posttherapy results showed: a) a statical significance for the p1, p2, p3, p4, t1, k1, k2 and d6 consonants (McNemar test; p < 0.05); b) a statistical significance for the p consonant in relation to the k, b, d, g consonants and for the t consonant in relation to the b, d, and g consonants (chi-squared test; p < 0.05) in the comparison of the proportion improvement among the 6 occlusive consonants. Conclusion The ISTP influenced the correction of glottal stops in the speech of individuals with cleft palate.

Application of data mining to extract knowledge about the occurrence of fistulas after palatoplasty / Aplicação de mineração de dados para extração de conhecimento sobre ocorrência de fístulas após palatoplastia

Introduction: Data mining techniques expand access to important information for the decision-making process during health care. The objective the study proposes using data mining techniques to identify variables (surgical treatment protocols, patient characteristics, post-surgical complications) associated with fistulas after primary palatoplasty in patients with unilateral transforamen incisor cleft (UTIC). Method: A data set of 222 patients with UTIC without syndromes, operated by four surgeons with Furlow's or von Langenbeck's primary palatoplasty techniques, was analyzed for this study. Two models for detecting the outcome of surgery were induced using data mining techniques (Decision Tree and Apriori). Results: Five rules were selected from a decision tree pointing to some variables as predictors of fistulas associated with primary palatoplasty: infection, cough, hypernasality, and surgeon. Analysis of the model indicates that it correctly classifies 95.9% of occurrences between the absence and presence of fistulas. The second model indicates that the absence of post-surgical complications (infection and fever) and normal speech results (absent hypernasality, without suggestive of velopharyngeal dysfunction) are related to the absence of fistulas. Regarding surgical procedures, the Furlow technique and the Vomer flap were more frequent in patients with fistulas. Conclusion: Data mining techniques, as applied in the present study, pointed to infection and cough, hypernasality, and surgeon and surgical techniques as predictors of fistulas related to primary palatoplasty.

Introdução: As técnicas de mineração de dados ampliam o acesso a informações importantes para o processo de tomada de decisão durante os cuidados com a saúde. O objetivo do estudo propõe a utilização de técnicas de mineração de dados para identificar variáveis (protocolos de tratamento cirúrgico, características do paciente, intercorrências pós-cirúrgicas) associadas à ocorrência de fístulas após palatoplastia primária em pacientes com fissura transforame incisivo unilateral (FTIU). Método: Um conjunto de dados de 222 pacientes com FTIU sem síndromes, operados por quatro cirurgiões com as técnicas de palatoplastia primária de Furlow ou von Langenbeck, foi analisado para este estudo. Dois modelos para detecção do resultado da cirurgia foram induzidos usando técnicas de mineração de dados (Árvore de Decisão e Apriori). Resultados: Cinco regras foram selecionadas de uma árvore de decisão apontando para algumas variáveis como preditivas de fístulas associadas à palatoplastia primária: infecção, tosse, hipernasalidade, cirurgião. A análise do modelo indica que ele classifica corretamente 95,9% das ocorrências entre ausência e presença de fístulas. O segundo modelo indica que a ausência de intercorrências pós-cirúrgicas (infecção e febre) e resultado de fala normal (hipernasalidade ausente, sem sugestivo de disfunção velofaríngea) estão relacionados à ausência de fístulas. Em relação aos procedimentos cirúrgicos, o uso da técnica de Furlow e retalho de Vomer foram mais frequentes nos pacientes com fístulas. Conclusão: Técnicas de mineração de dados, conforme aplicadas no presente estudo, apontaram para infecção e tosse, presença de hipernasalidade, cirurgião e técnica cirúrgica como preditores de fístulas relacionadas à palatoplastia primária.

Efeito do treinamento perceptivo-auditivo na classificação da hipernasalidade de fala / Effect of perceptive-auditory training on the classification of speech hypernasality

RESUMO Objetivo Analisar o efeito de um treinamento perceptivo-auditivo de fonoaudiólogas sem experiência na classificação da hipernasalidade de fala de indivíduos com fissura labiopalatina e comparar a classificação da presença e grau de hipernasalidade realizadas dessas fonoaudiólogas (com a avaliação padrão-ouro), antes e depois do treinamento perceptivo-auditivo. Método Três fonoaudiólogas sem experiência analisaram 24 amostras de fala de alta pressão de indivíduos com fissura labiopalatina, antes e depois de treinamento perceptivo-auditivo, usando escala de quatro pontos. As amostras de fala correspondiam a seis amostras de cada grau de hipernasalidade. Entre as análises, as fonoaudiólogas receberam treinamento perceptivo-auditivo. Houve acesso às amostras de referência e feedback de respostas corretas quanto ao grau de hipernasalidade no treinamento. Resultados Não houve diferença significativa na porcentagem geral de acertos entre os momentos antes e depois do treinamento perceptivo-auditivo. Houve associação e concordância significativa das três avaliadoras com avaliação padrão ouro após treinamento, com aumento da concordância para uma avaliadora (aumento de respostas corretas para os graus ausente e leve). A análise dicotômica dos dados mostrou aumento do índice de concordância Kappa dessa avaliadora. Houve aumento do índice concordância inter-avaliadores para hipernasalidade ausente, leve, e grave, porém sem significância estatística. Conclusão O treinamento perceptivo-auditivo não resultou em melhora significativa da classificação da hipernasalidade de fala pelas fonoaudiólogas sem experiência, embora a análise individual dos dados tenha mostrado que o treinamento favoreceu uma dessas avaliadoras. Novos estudos envolvendo treinamento perceptivo-auditivo gradual e mais extenso poderão favorecer a classificação da hipernasalidade de fala por fonoaudiólogos sem experiência.

ABSTRACT Purpose To analyze the effect of auditory-perceptual training by inexperienced speech-language pathologists in the classification of hypernasality in individuals with cleft lip and palate and compare their classification of hypernasality individually, with the gold standard evaluation, before and after this training. Methods Three inexperienced speech-language pathologists used a four-point scale to assess 24 high-pressure speech samples from individuals with cleft lip and palate, before and after auditory-perceptual training. The speech samples corresponded to six samples of each degree of hypernasality. The speech-language pathologists received auditory-perceptual training during the assessments. They had access to anchor samples and immediate feedback of correct answers regarding the degree of hypernasality in training. Results There was no significant difference in the overall percentage of correct answers when comparing before and after the auditory-perceptual training. There was a significant association and agreement of the three evaluators with a gold standard evaluation after training, with an increase in agreement for a single evaluator for absent and mild degrees of hypernasality. The dichotomous analysis of the data showed an increase in the Kappa Index of Agreement of this evaluator. Although there was an increase in the Index of Agreement between evaluators for absent, mild, and severe hypernasality, this increase did not reach statistical significance. Conclusion The auditory-perceptual training provided did not result in a significant improvement in the hypernasality classification for the inexperienced speech-language pathologists, even though the individual data analysis showed that the training favored one of the evaluators. Further studies involving gradual and more extensive auditory-perceptual training may favor the classification of hypernasality by inexperienced SLPs.

Assessment of websites on cleft lip and palate in Brazilian Portuguese

ABSTRACT Purpose: this study aimed at assessing the legibility, reliability, usability and coverage of websites on cleft lip and/or palate (CL/P) in Brazilian Portuguese and providing a global comparison. Methods: in order to evaluate the obtained data, four protocols were used, i.e., the Website Coverage Protocol, the legibility (by means of the COH METRIX PORT), the reliability (Discern Protocol), and the usability (by means of the System Usability Scale). Results: 98 websites were included with average legibility scoring of 31.6±11.7, rated as a hard readability level. Coverage average scoring was 19.9±3.79 from a total of 35 points. As for reliability, average scoring was 43.2±6.51 points, rated as acceptable. The usability scoring was 24.8±2.18 points, rated as the worst imaginable one. Conclusion: therefore, the assessed Brazilian websites on CL/P were rated difficult for legibility, requiring high-school level of education, restricted coverage and acceptable reliability, in addition to the low usability. The results were similar to those of websites from other countries, except for the legibility aspect, which was lower for Brazilian websites.

Caracterización de pacientes con fisura labiopalatina

Introducción: Las fisuras labiopalatinas son los defectos congénitos más frecuentemente atendidas en los servicios de cirugía maxilofacial pediátricos. Estas aparecen precozmente en la vida intrauterina durante el período embrionario e inicio del período fetal. Objetivo: Examinar las características clínicas de pacientes con fisuras labiopalatinas. Métodos: Estudio descriptivo, retrospectivo y transversal. El universo de estudio quedó conformado por 91 historias clínicas de pacientes atendidos en el departamento de Cirugía Maxilofacial del Hospital Pediátrico Universitario "William Soler Ledea" en La Habana, entre 2015 y 2019. Las variables medidas fueron edad, sexo, tipo de fisura, defectos congénitos aislados y defectos congénitos múltiples. Resultados: Predominaron las féminas con 57,1 % y las edades menores de un año para el 54,9 %. Las fisuras palatinas aisladas se presentaron con mayor frecuencia (39,6 %) y las fisuras labiales del lado izquierdo se mostraron en 18 pacientes (32,7 %). El defecto congénito aislado más usual resultó la comunicación interventricular (4,4 %) y el defecto congénito múltiple resultó el síndrome de Goldenhar (5,5 %). Conclusiones: En los niños estudiados con fisuras labiopalatinas existió predominio del sexo femenino, fundamentalmente, en las niñas con menos de cinco años. La fisura palatina aislada resultó la más frecuente; un pequeño grupo de pacientes presentó defectos congénitos asociados, sobre todo cardiovasculares; y los defectos congénitos múltiples se vincularon con mayor frecuencia con las fisuras palatinas aisladas.

Introduction: Cleft lip and palate are the most frequently seen congenital defects in pediatric maxillofacial surgery services. They appear early in intrauterine life during the embryonic and early fetal period. Objective: To examine the clinical characteristics of patients with cleft lip and palate. Methods: Descriptive, retrospective and cross-sectional study. The study universe consisted of 91 clinical histories of patients attended at the Maxillofacial Surgery Department of "William Soler Ledea" University Pediatric Hospital in Havana, between 2015 and 2019. The variables measured were age, sex, type of cleft, isolated congenital defects and multiple congenital defects. Results: Females predominated with 57.1% and ages younger than one year (54.9%). Isolated cleft palates were more frequent (39.6%) and left-sided lip clefts were present in 18 patients (32.7%). The most usual isolated congenital defect was ventricular septal defect (4.4 %) and multiple congenital defect resulted in Goldenhar syndrome (5.5%). Conclusions: In the children studied with cleft lip and palate there was a predominance of the female sex, mainly in girls under five years of age. Isolated cleft palate was the most frequent; and small group of patients presented cleft palate defects.

Maternal consumption of caffeine and second-hand tobacco smoke as risk factors for the development of oral clefts

Abstract Objective The aim of this case-control study was to investigate environmental factors, such as caffeine, folic acid, nutritional iron supplementation, multivitamin complexes, alcohol, and tobacco (second-hand smoking), which have been described as risk factors for the development of oral clefts. Methods This case-control study employed convenience sampling and included 409 mothers: 132 with children with oral clefts (cases) and 277 with children without oral clefts (controls). The age range of the children in both groups was 0 to 2 years. A questionnaire was administered to each mother to inquire about their habits and food consumption during the first trimester of pregnancy. Results Folic acid supplementation was observed in 116 (87.8%) of the case group (p< 0.001) and 271 (97.8%) of the control group. Regarding the use of ferrous sulfate, 114 (86.3%) of the case group and 271 (97.8%) of the control group reported using it. In the case group, 84 (63.6%) mothers reported being exposed to second-hand smoke, and 5 (3.7%) reported alcohol consumption (p= 0.797). In terms of caffeine consumption, 127 mothers (95.4%) in the case group consumed it (p= 0.13), while 247 (88.8%) reported consumption in the control group. Conclusions The results suggest a direct relationship between secondhand smoke, alcohol consumption, and the lack of maternal supplementation with oral clefts.

Auditory-perceptual training for the assessment of hypernasality in cleft palate speakers: an integrative literature review / Treinamento perceptivo-auditivo para a avaliação da hipernasalidade de fala em indivíduos com fissura labiopalatina: uma revisão integrativa da literatura

ABSTRACT Purpose: to describe the auditory-perceptual training for the assessment of hypernasality in individuals with cleft lip and palate. Methods: an integrative literature review in the databases Virtual Health Library, SciELO, and PubMed, aimed to answer the following guiding question: 1) What are the characteristics of auditory-perceptual training to assess hypernasality in individuals with cleft lip and palate? Articles in Portuguese and English, available in full access, without the restriction of the publication date, which presented programs of training for speech hypernasality, unprecedented, adapted, or replicated, were included. The pursuit of descriptors, selection, extraction, and synthesis of data was performed by three independent evaluators. Literature Review: 10 articles were included in this study, based on established criteria. Five articles investigated the effectiveness of training on speech analysis by listeners, regardless of experience level. Another five articles pertained to training when validating speech assessment protocols. Consensus analyses and reference samples were the most used training reported. Perceptual rating of phrases, using the equal appearance scale and in person training, was the most reported one. Conclusions: the auditory-perceptual training of listeners to identify hypernasality showed variability in the proposed strategies, particularly when proposed for non-experienced listeners. The difficulty in maintaining acquired skills in the long term is pointed out.

RESUMO Objetivo: descrever as características dos treinamentos perceptivo-auditivos para a avaliação da hipernasalidade em indivíduos com fissura labiopalatina. Métodos: revisão integrativa de literatura nas bases de dados Biblioteca Virtual da Saúde, SciELO e PubMed que visou responder a seguinte pergunta norteadora "Quais são as características dos treinamentos perceptivos-auditivos para avaliação da hipernasalidade em indivíduos com fissura labiopalatina?". Foram incluídos artigos em português e inglês, disponíveis na íntegra, sem restrição de data de publicação, que apresentassem programas de treinamento para hipernasalidade, inéditos, adaptados ou replicados. A busca dos descritores, seleção, extração e síntese dos dados foram feitas por três avaliadores independentes. Revisão da Literatura: foram incluídos dez artigos com base nos critérios estabelecidos. Cinco artigos investigaram o efeito do treinamento na análise perceptiva de ouvintes, com ou sem experiência. Outros cinco utilizaram treinamentos de fonoaudiólogos, ao validar protocolos de avaliação da fala. Análises consensuais e amostras de referências foram os treinamentos mais empregados. Julgamentos perceptivos de frases, usando escala de intervalos iguais, em modalidade presencial foram os mais descritos. Conclusão: treinamentos perceptivo-auditivos para identificação da hipernasalidade variaram, particularmente, em sua duração e ouvintes incluídos. A dificuldade em manter habilidades adquiridas a longo prazo é apontada.

Outcomes of permanent canines on the cleft side after secondary alveolar grafting using different materials in complete unilateral cleft lip and palate

Abstract The prevalence of impaction of the permanent canine on the cleft side (PCCS) ranges from 12-35% after alveolar bone grafting (ABG). PCCSs usually develop above other permanent teeth in the alveolar process, gradually becoming vertical until they reach the occlusal plane. The type of cleft, hypodontia of lateral incisor on the cleft side, slower PCCS root development, and genetic factors are predictors of impaction and/or its ectopic eruption. Objective: To compare the behavior of PCCS in individuals with complete unilateral cleft lip and palate (UCLP) subjected to secondary alveolar grafting (SAG) with different materials. Methodology: This retrospective longitudinal study analyzed 120 individuals undergoing SAG with iliac crest bone, rhBMP-2, and mandibular symphysis. The individuals were selected at a single center and equally divided into three groups. Panoramic radiographs were analyzed by the Dolphin Imaging 11.95 software to measure PCCS angulation and PCCS height from the occlusal plane at two different timepoints. Results: No statistical significance was found between grafting materials (P=0.416). At T1, the PCCS height from the occlusal plane was greater for rhBMP-2 and mandibular symphysis compared to iliac crest bone. The lateral incisor on the cleft side was not related to success or lack of eruption of PCCS (P=0.870). Conclusion: Impaction rates of PCCS were similar for the materials studied. Absence of the lateral incisor on the cleft side did not prevent spontaneous eruption of PCCSs.

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.

Soft tissue changes in midfacial healthy and affected sides of unilateral cleft lip and palate patients after orthognathic surgery / 中华医学美学美容杂志

Objective:To investigate the alterations in soft tissue morphology and thickness in the mid-face region of patients with cleft lip and palate (UCLP) secondary to maxillofacial deformity following Le Fort I osteotomy.Methods:A total of 22 patients (16 males and 6 females aged from 17 to 28 years with an average of 20 years) diagnosed with cleft lip and palate secondary to maxillofacial deformity were collected from the Wuhan University Hospital of Stomatology from July 2012 to August 2020. All patients underwent Le Fort I osteotomy. CBCT scans were obtained at T0 (3 days before surgery), T1 (7 days after surgery), and T2 (1 year after surgery). The Dolphin11.95 software and 3D Slicer software were utilized to measure and analyze the soft tissue near the mid-face osteotomy line. Differences in soft tissue thickness before and after surgery were compared.Results:Before and after the operation, the soft tissue thickness at P3, P5, P6, and P8 on the affected side was thicker than that on the healthy side, and the difference was statistically significant, with a P-value of <0.05. At P5, P6, P7, P8, and P9 below the osteotomy line at T2-T0, the degree of postoperative thinning on the affected side was more apparent than that on the healthy side, and there was statistical significance at P6 ( P<0.05). The postoperative soft tissue asymmetry in the Ck region was improved compared with the preoperative one. The preoperative average protruding of the affected side was 0.63 compared with the healthy side, and the postoperative value was 0.17. The preoperative and postoperative Mann-Whitney U tests showed significantly statistical difference. Conclusions:After Le Fort I osteotomy, the facial asymmetry of patients with unilateral cleft lip and palate secondary to maxillofacial deformity is improved. However, there is still a difference in the soft tissue thickness between the healthy side and the affected side, and the change in soft tissue thickness on the affected side is more significant than that on the healthy side.

A case of BMP2 gene variation-caused short stature, facial dysmorphism and skeletal anomalies with or without cardiac anomaly syndrome / 中华围产医学杂志

This article reported the genetic analysis of a case diagnosed with fetal micrognathia and cleft palate by mid-trimester ultrasound in two consecutive pregnancies. In the first pregnancy, the pregnant woman delivered a full-term boy transvaginally, who died two weeks after birth and was diagnosed with Pierre Robin sequence (PRS). Chromosome karyotype and genomic copy number variation. In the second pregnancy, the woman underwent amniocentesis due to suspected PRS presenting by fetal cleft palate, micrognathism, and additional ultrasound anomalies. No abnormalities were detected in fetal karyotype or genomic copy number variation. Whole-exome sequencing, bioinformatics analysis, and Sanger sequencing suggested that both the fetus and the firstborn boy inherited a possible pathogenic variant of c.79delG p.E27Sfs*24 in the BMP2 gene from the mother. The pregnancy was terminated after the genetic consultation. Fetal phenotypes in the two fetuses were similar, indicating that short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaly in the pedigree were caused by the heterozygous variant of c.79delG p.E27Sfs*24 in the BMP2 gene.

Incidence of congenital cleft lip and cleft palate in Shanxi province and its trend from 2010 to 2020 / 中华全科医师杂志

Objective:To analyze the incidence of congenital cleft lip and cleft palate in Shanxi province and its trend from 2010 to 2020.Methods:The clinical data of perinatal infants from 2010 to 2020 were collected from Shanxi Provincial Hospital Monitoring System, and the distribution, prenatal diagnosis, the incidence of cleft lip, cleft palate, and the trend were analyzed.Results:From 2010 to 2020, among 843 457 prenatal infants in Shanxi province, there were 1 264 cases of cleft lip and/or cleft palate with an overall incidence rate of 1 4.99/10 4. Among them 199 cases were cleft palate (15.74%) with an incidence rate of 2.36/10 4; 358 cases were cleft lip (28.33%) with an incidence rate of 4.24/10 4; 707 cases were cleft lip with cleft palate (55.93%) with an incidence rate of 8.38/10 4. The overall incidence of cleft lip and/or cleft palate was significantly decreased from 2010 to 2020 ( χ2=104.04, P<0.001). The incidence of cleft lip in rural area was higher than that in urban areas (19.13/10 4vs. 11.50/10 4, χ2=81.29, P<0.001); the incidence in male infants was higher than that in female infants (16.41/10 4vs. 13.41/10 4, χ2=90.59, P<0.001). There were significant differences in the incidence of cleft lip and cleft palate among different maternal ages ( χ2=58.40, P<0.001); the incidence in maternal age<20 years (21.66/10 4) and 20-<25 years (21.06/10 4) was higher than that of other groups. The proportion of prenatal diagnosis of total cleft lip was 27.85% (352/1 264), which showed an increasing trend ( χ2=6.96, P=0.008). Conclusion:From 2010 to 2020, the incidence of congenital cleft lip and palate in Shanxi province shows a decreasing trend, while the prenatal diagnosis rate shows an increasing trend.

Congenital alveolar synechiae with cleft palate: A case report / 口腔医学

@#An oral synechia is a fibrous or soft tissue adhesion between the maxilla and the mandible. These synechiae can appear at various locations in the oral cavity, with alveolar synechia being one of the manifestations. Alveolar synechia is a rare congenital deformity and often accompanied by additional congenital defects, such as cleft lip or palate, microglossia, micrognathia, or TMJ anomalies. Among these, cleft palate is the most common. A case of congenital alveolar synechiae with cleft palate is reported. The child is in good condition after surgical treatment. The etiology and treatment are discussed.

Preliminary experimental study on the prevention of all-trans retinoic acid induced cleft palate in mice by nicotinamide / 口腔疾病防治

Objective@# To explore the preventive effect of nicotinamide (NAM) on cleft palate induced by all-trans retinoic acid (RA), to provide research evidence for the prevention of cleft palate. @*Methods @#The mouse cleft palate model was induced by intragastric administration of 70 mg/kg all-trans retinoic acid at embryonic day 10.5 (E10.5) in the control group. The mouse cleft palate model was treated by caudal vein injection of 20 mg/kg NAM at E8.5 to E13.5 in the experimental group (1). The cleft palate model was treated by caudal vein injection of 40 mg/kg NAM at E8.5-E13.5 in the experimental group (2). The cleft palate of fetal rats was observed by laparotomy on E16.5 and statistically analyzed. Annexin V-FITC/PI double staining was used to detect the apoptosis of mouse embryonic palatal mesenchyme (MEPM) cells treated with RA 1 μmol/L (RA 1 group), NAM 200 μmol/L (NAM 200 group), and both NAM 200 μmol/L and RA 1 μmol/L (NAM 200+RA 1 group) for 24 hours by flow cytometry and the apoptosis rate in groups were compared. Culture without RA or NAM was used as a control. @*Results @# The cleft palate rate in the control group was 98%. The cleft palate rate in experimental group (1) was 87%. There was no significant difference between groups (P>0.05). The cleft palate rate in the experimental group (2) was 63%, compared with the control group, there was a significant difference (P<0.01). The cell apoptosis rate was 16.53%±2.89% in the CONTROL group. The cell apoptosis rate was 22.9%±1.85% in the RA 1 group, which was a significant increase compared with the CONTROL group (P<0.01). The apoptotic rate of the NAM 200 group was 9.23%±1.39%, which was a significant decrease compared with NA 1 group (P<0.01). The apoptosis rate of the NAM 200+RA 1 group was 14.9%±7.67%, which was a significant decrease compared with the RA 1 group (P<0.01).@*Conclusion@#NAM can prevent cleft palate. 40 mg/kg nicotinamide during pregnancy is an effective concentration for the prevention of RA-induced cleft palate. The mechanism by which NAM prevents cleft palate may be that NAM inhibits RA-induced apoptosis of MEPM cells.

Craniofacial morphology of patients with unilateral cleft lip and palate at two stages of skeletal maturation

Abstract The aim of this retrospective cross-sectional investigation was to perform a 3D analysis of craniofacial morphology of patients with unilateral cleft lip and palate (UCLP) at two stages of skeletal maturation. Cone-beam computed tomography (CBCT) scans of 52 UCLP patients (34 prepubertal; 18 pubertal) were collected from an outpatient referral center for the treatment of craniofacial deformities. In total 15 multiplanar craniofacial landmarks were identified, 3D virtual surface models were created, and 13 variables were measured to assess the 3D Euclidean distances between landmarks and spatial position of the landmarks in the projected X, Y and Z components. Maxillary and mandibular pitch (clockwise, counterclockwise) rotation relative to the cranial base was also evaluated. The significance level was set at 5%. Maxillary retrusion value relative to the cranial base was higher and statistically significant greater (p = 0.028) in pubertal (SNA, 77.4° ± 6.2; N-ANS Y, 3.3 mm ± 3.1) than in prepubertal patients (SNA 81.0° ± 5.2; N-ANS Y, 5.8 mm ± 2.7). The posterior cranial base length (S-Ba Y) was significantly longer (p = 0.013) in pubertal (20.7 mm ± 3.4) than in prepubertal patients (18.4 mm ± 2.7). The upper facial height (N-ANS Z) was significantly greater (p = 0.01) in pubertal (46.9 mm ± 4.5) than in prepubertal patients (43.4 mm ± 3.0). Prepubertal and pubertal UCLP patients presented distinct patterns of craniofacial morphology, mainly in the sagittal component of the maxilla and in the posterior cranial base length. Pubertal patients had greater maxillary retrusion and posterior cranial base length.