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.

Evaluation of facial pleasantness in patients with complete and unilateral cleft lip and palate rehabilitated and submitted to orofacial harmonization

ABSTRACT Objective: The objective of the present prospective case control study was to evaluate the facial pleasantness of patients with complete and unilateral cleft lip and palate at the end of interdisciplinary rehabilitation, submitted to facial fillers based on hyaluronic acid. Methods: The study group consisted of 18 individuals with complete unilateral cleft lip and palate, aged between 18 and 40 years (mean age 29 years) of both sexes. The patients presented a concave profile with mild to moderate maxillary deficiency, with completed orthodontic treatment and conducted by means of dentoalveolar compensations without orthognathic surgery. Participants underwent facial filling procedures with hyaluronic acid (HA) in the midface, inserted by a single operator. Standard photographs in frontal norm at rest, right profile at rest, and left profile at rest were obtained from each patient at the following operative times: (T1) pre-filler and (T2) and one-month post-filler. The photographs in T1 and T2 were randomly placed on a page of a virtual album. A 5-point Likert scale was used to assess facial pleasantness. The photographs were evaluated by two groups of evaluators consisting of 18 individuals with cleft lip and palate (CLPG=18) and 18 orthodontists with experience in the treatment of clefts (OG=18). For comparison between phases T1 and T2, and between evaluators with orofacial clefts and orthodontists, the Wilcoxon test was used (p<0,05). Results: People with cleft lip and palate rated their face as more pleasant after the midface filling procedure. In the perception of the orthodontists, on the other hand, the facial pleasantness remained similar after the facial filling procedure. Conclusions: The filling of the middle third of the face in patients with cleft lip and palate treated without orthognathic surgery increased the pleasantness of the face in the opinion of laypeople with cleft lip and palate.

RESUMO Objetivo: O objetivo do presente estudo caso-controle prospectivo foi avaliar a agradabilidade facial de pacientes com fissura labiopalatina completa e unilateral ao final da reabilitação interdisciplinar, submetidos a preenchimentos faciais à base de ácido hialurônico. Métodos: O grupo de estudo foi composto por 18 indivíduos com fissura labiopalatina unilateral completa, com idade entre 18 e 40 anos (média de 29 anos), de ambos os sexos. Os pacientes apresentavam perfil côncavo com deficiência maxilar leve a moderada, com tratamento ortodôntico concluído e realizado por meio de compensações dentoalveolares sem cirurgia ortognática. Os participantes foram submetidos a procedimentos de preenchimento facial com ácido hialurônico (AH) no terço médio da face, implantado por um único operador. Fotografias padrão em norma frontal em repouso, perfil direito em repouso e perfil esquerdo em repouso foram obtidas de cada paciente nos seguintes tempos operatórios: (T1) pré-preenchimento e (T2) um mês pós-preenchimento. As fotografias em T1 e T2 foram inseridas aleatoriamente em uma página de um álbum virtual. Uma escala Likert de 5 pontos foi utilizada para avaliar a agradabilidade facial. As fotografias foram avaliadas por dois grupos de avaliadores formados por 18 indivíduos com fissura labiopalatina (GFLP=18) e 18 ortodontistas com experiência no tratamento de fissuras (GO=18). Para comparação entre as fases T1 e T2, e entre avaliadores com fissura labiopalatina e ortodontistas, foi utilizado o teste de Wilcoxon (p<0,05). Resultados: As pessoas com fissura labiopalatina avaliaram seu rosto como mais agradável após o preenchimento do terço médio da face. Já na percepção do ortodontista, a agradabilidade facial permaneceu semelhante após o procedimento de preenchimento facial. Conclusões: O preenchimento do terço médio da face em pacientes com fissura labiopalatina tratados sem cirurgia ortognática aumentou a agradabilidade da face na opinião dos leigos com fissura labiopalatina.

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.

Evaluation of Anaesthetic Challenges in Primary Cleft Lip and Palate Surgeries in a Single Center Study

Background: One of the most prevalent congenital malformations and the most frequent craniofacial defects in children is cleft lip and palate. The aim of the study was to investigate the anaesthetic procedures employed and to determine the challenges and postoperative complications associated with cleft lip and palate surgery. Material & Methods: A retrospective review of the anaesthetic procedures carried out from January 2022 to December 2022 at the Dhaka Dental College and Hospital. The hospital records were reviewed in order to learn about every occurrence of orofacial cleft surgery. In this study, a total number of 120 cases were reviewed. Results: Among 120 cases, 53 (44.2%) of the patients were female and 67 (55.8%) were male. The bulk of patients came after their first year of life. About 54(45%) of them were younger than five years old. 68(56.67%) underwent cleft lip surgery, 37(30.83%) for cleft palate surgery and rest 15(12.5%) patients under went for combined cleft lip and cleft palate surgeries. Upper Respiratory Tract Infection (URTI) was reported as the most common pre-existing morbidity. Bronchospasm was the main intraoperative complications occurred in 8 (6.67%) of the cases with URTI. After surgey 6(5%) patients experienced bleeding, 3(2.5%) patients needed to be reintubated. In addition, 2 (1.67%) instances had trouble controlling their pain, only 1(0.83%) patient had trouble swallowing and 1(0.83%) recovered slowly. Conclusion: Anaesthesia for surgical repair of cleft lip or palate in children is challenging. After a thorough preoperative evaluation, a trained anaesthesiologist should administer anaesthesia under strict supervision to minimize postoperative complications.

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.

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.

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.

3D finite element analysis of the influence of upper lip pressure on the maxilla for patients with unilateral alveolar cleft / 口腔疾病防治

Objective @#To investigate the biomechanical effects of upper lip pressure on the maxilla in patients with a unilateral alveolar cleft and provide evidence for clinical diagnosis and treatment. @*Methods @#A 3D finite element maxillary model was generated based on cone beam CT (CBCT) data from an 11-year-old female patient with a unilateral alveolar cleft. Two different kinds of upper lip pressure, postsurgery pressure and normal pressure, were applied to the model. The displacement and stress of each reference node were compared and analyzed. @*Results @# By loading upper lip pressure, the maxillary alveolar crest rotated toward the defect and was displaced downward and backward. The displacement of the noncleft side was greater than that of the cleft side and it decreased gradually from the anterior to the posterior. The stress was concentrated on the anterior portion of the alveolar crest. The stress on the noncleft side was greater than that on the cleft side and it decreased gradually from the anterior to the posterior. The maximum stress was concentrated on the palate around the defect. The displacement and stress in the postsurgery group were greater than those of the normal group (P<0.05). @*Conclusion @#By loading upper lip pressure, the maxilla demonstrated asymmetry three-dimensionally. The adverse effects on the maxilla could be mitigated by reducing the upper lip pressure.

Clinical application of β-tricalcium phosphate artificial bone material for alveolar cleft repair / 口腔疾病防治

Objective@# To investigate the osteogenic effect of β-tricalcium phosphate (β-TCP) and bone morphogenetic protein-2 (BMP-2) in the repair of the alveolar cleft.@*Methods @# Fifty-nine patients with unilateral alveolar cleft who visited Capital Medical University School of Stomatology from January 2016 to May 2021 were included. They were divided into three groups according to the different bone repair materials: autologous bone, β-TCP and BMP-2 +β-TCP. The preoperative and postoperative CBCT data of the patients were imported into Mimics 21.0 software. The preoperative volume of the bone defect and the new volume of bone formation were calculated by the three-dimensional reconstruction method. The osteogenesis rate was calculated to evaluate the osteogenesis effect@*Results@#The wounds in the three groups healed well after the operation, without implant material discharge, infection, dehiscence, rejection or other symptoms. Twelve months after the operation, CBCT scanning and three⁃dimensional reconstruction images of the three groups of patients showed the formation of new bone bridges in the alveolar ridge fissure area. The image density of the new bone tissue was not significantly different from that of normal bone tissue, and the continuity of the maxilla was re⁃ stored to varying degrees. The bone rate of autogenous bone was 65.00% ± 16.66%, β⁃ TCP group and BMP⁃2+ β⁃ The bone composition rate of TCP was 69.82% ± 17.60%, 71.35% ± 17.51%, respectively, and there was no significant dif⁃ ference compared with the autogenous bone group (P = 0.382, P = 0.244). The β⁃TCP and BMP⁃2+ β⁃TCP groups had no significant differences in bone rate (P = 0.789). @*Conclusion@#β⁃TCP could be used to replace autologous bone for alveolar cleft repair. The addition of BMP⁃2 to β⁃TCP did not significantly improve the osteogenesis rate.

Consensus recommendations on the evaluation and treatment of congenital laryngeal clefts / 临床耳鼻咽喉头颈外科杂志

Congenital laryngeal cleft is a rare airway malformation, mainly manifested as choking, feeding difficulties, which affects the growth and development of children. Patients with a severe laryngeal cleft may have recurrent aspiration, leading to cyanotic spells, or even death. Advances in development of endoscopic techniques have made early diagnosis possible. Depending on the degree of cleft, management may involve a variety of approaches ranging from medical management alone to open repair. Therefore, it is important for pediatric ENT doctors to diagnose and evaluate in clinical practice. This consensus statement, developed by the Pediatric otorhinolaryngology Professional Committee of the Pediatrician Branch of the Chinese Medical Doctor Association, provides comprehensive recommendations and standardized guidance on diagnosis and management of laryngeal cleft, based on symptomatology, physical examinations, and laboratory tests.

Differences of temporomandibular joint symmetry in patients with unilateral complete cleft lip and palate at different developmental stages / 中南大学学报(医学版)

OBJECTIVES@#Currently, the research results regarding the bilateral temporomandibular joint symmetry in patients at different ages with unilateral complete cleft lip and palate (UCLP) are still controversial. In this study, the position of condyle in the articular fossa and morphology of condyle in UCLP patients at different developmental stages was measured and analyzed to explore the asymmetry difference, which can provide a new theoretical basis for the sequential therapy.@*METHODS@#A total of 90 patients with UCLP were divided into a mixed dentition group (31 cases), a young permanent dentition group (31 cases) and an old permanent dentition group (28 cases) according to age and dentition development. Cone beam computed tomography (CBCT) images were imported into Invivo5 software for 3D reconstruction, and the joint space, anteroposterior diameter, medio-lateral diameter, and height of condylar were measured, and its asymmetry index was calculated.@*RESULTS@#The asymmetry index of condylar height and anteroposterior diameter among the 3 groups, from small to large, was the mixed dentition group<the young permanent dentition group<the old permanent dentition group (both P<0.05). There was no significant difference in condylar anteroposterior diameter and asymmetry index between the mixed dentition group and the young permanent dentition group (both P>0.05), all of them were lower than those in the old permanent dentition group (both P<0.05). Compared with the normal side, the height of fracture condyle was smaller among the 3 groups (all P<0.05), and the anterior joint space was smaller (P<0.05) and the posterior joint space was larger (P<0.05) in the mixed dentition group.@*CONCLUSIONS@#In patients with UCLP, the asymmetry of condylar morphology increases with age, but the condylar position tends to normal. These results suggest that early treatment has important clinical significance for the morphologic development of temporomandibular joint in UCLP patients.

Study on brain mechanism of rehabilitation training of articulation disorder in cleft lip and palate patients based on functional magnetic resonance imaging / 生物医学工程学杂志

The cleft lip and palate (CLP) is one of the most common craniofacial malformations in humans. We collected functional magnetic resonance data of 23 CLP patients before rehabilitation training (Bclp) and 23 CLP patients after rehabilitation training (Aclp), who were performing Chinese character pronunciation tasks, and performed brain activation analysis to explore the changes of brain mechanism in CLP patients after articulation disorder rehabilitation training. The study found that Aclp group had significant activation in the motor cortex, Broca area, Wernicke area and cerebellum. While the Bclp group had weak activation in the motor cortex with a small activation range. By comparing the differences and co-activated brain regions between the two groups, we found that rehabilitation training increased the activity level of negatively activated brain areas (cerebellum, left motor area, Wernicke area, etc.) to a positive level. At the same time, the activity level of weakly activated brain areas (right motor area, Broca area, etc.) was also increased. Rehabilitation training promoted the activity level of articulation-related brain regions. So that the activation intensity of articulation-related brain regions can be used as a quantifiable objective evaluation index to evaluate the effect of rehabilitation training, which is of great significance for the formulation of rehabilitation training programs.

Dificuldades na amamentação de lactentes com fissura labiopalatina / Difficulties in breastfeeding infants with cleft lip and palate / Dificultades en la lactancia de niños con labio leporino y paladar hendido

A partir da malformação congênita ocorrida pela 4ª semana a 12ª semana de vida uterina, com etiologia multifatorial , a fissura labiopalatina consiste em processos faciais acometidos com irregularidades o qual , dependendo da complexidade da abertura acarretará em dificuldades para a amamentação de lactantes. Neste sentido, o objetivo deste estudo é expor as principais dificuldades quanto ao processo de amamentação, trazendo referências atualizadas sobre o tema vinculado ao conhecimento científico. Para tal, realizou-se uma revisão integrativa de literatura com busca de artigos originais e revisões indexadas na base de dados da Biblioteca Virtual em Saúde (BVS), disponíveis pela seleção das plataformas LILACS, BDENF e MEDLINE, adotando critérios de inclusão e exclusão de artigos. Dentre os achados, 70% deles foram de origem internacional, e demonstram que, os lactantes encontram dificuldades para a amamentação conforme o grau da fissura labiopalatina, quanto maior a complexidade da fenda, menor a chance de se realizar o Aleitamento Materno Exclusivo (AME) e as principais dificuldades encontradas foram: desnutrição, perda de peso, sucção débil, pega inadequada da mama e deglutição prejudicada. Destaca-se, também, que, na maioria dos estudos abordados, as mães apresentam dificuldades frente ao diagnóstico não esperado. Portanto, torna-se indispensável aos profissionais da equipe de enfermagem ter o conhecimento científico e preparo assistencial para propor a família dos lactantes formas viáveis para a amamentação.

From the congenital malformation occurring in the 4th week to the 12th week of uterine life, with multifactorial etiology, cleft lip and palate consists of affected facial processes with irregularities which, depending on the complexity of the opening will cause difficulties for breastfeeding infants. In this sense, the objective of this study is to expose the main difficulties regarding the process of breastfeeding, bringing updated references on the subject linked to scientific knowledge. To this end, an integrative literature review was carried out searching for original articles and reviews indexed in the Virtual Health Library (VHL) database, available through the selection of LILACS, BDENF, and MEDLINE platforms, adopting article inclusion and exclusion criteria. Among the findings, 70% were of international origin, and showed that the lactating infants encounter difficulties in breastfeeding according to the degree of cleft lip and palate; the greater the complexity of the cleft, the lower the chance of exclusive breastfeeding (EBF), and the main difficulties found were malnutrition, weight loss, weak suction, inadequate grip on the breast, and impaired deglutition. It is also noteworthy that, in most of the studies approached, mothers have difficulties when facing an unexpected diagnosis. Therefore, it is essential for nursing professionals to have the scientific knowledge and assistance preparation to propose viable forms of breastfeeding to the infants' families.

De la malformación congénita que ocurre en la 4ª semana a la 12ª semana de vida uterina, con etiología multifactorial, el labio leporino y paladar hendido consiste en procesos faciales afectados con irregularidades que, dependiendo de la complejidad de la abertura causarán dificultades para la lactancia materna de los lactantes. En este sentido, el objetivo de este estudio es exponer las principales dificultades relativas al proceso de lactancia materna, aportando referencias actualizadas sobre el tema vinculadas al conocimiento científico. Para ello, se realizó una revisión bibliográfica integradora buscando artículos originales y revisiones indexados en la base de datos de la Biblioteca Virtual en Salud (BVS), disponibles a través de la selección de las plataformas LILACS, BDENF y MEDLINE, adoptando criterios de inclusión y exclusión de artículos. Entre los hallazgos, el 70% eran de origen internacional, y mostraron que los lactantes encuentran dificultades en la lactancia materna de acuerdo con el grado de labio leporino y paladar hendido; cuanto mayor es la complejidad de la hendidura, menor es la posibilidad de lactancia materna exclusiva (LME), y las principales dificultades encontradas fueron la desnutrición, pérdida de peso, succión débil, agarre inadecuado al pecho y deglución alterada. También cabe destacar que, en la mayoría de los estudios abordados, las madres tienen dificultades cuando se enfrentan a un diagnóstico inesperado. Por lo tanto, es fundamental que los profesionales de enfermería tengan el conocimiento científico y la preparación asistencial para proponer formas viables de amamantamiento a las familias de los lactantes.

Correlation between cleft width and dental arch symmetry in cleft lip and palate: a longitudinal study

Abstract This study aimed to evaluate the influence of cleft width on dental arch symmetry of children with unilateral cleft lip and palate. Forty-one children were subjected to impression preoperatively (T1; mean age = 0.31 ± 0.07 years) and postoperatively (T2; mean age = 6 .73 ± 1.02 years). Eighty-two digitized dental casts were analyzed by stereophotogrammetry software. The cleft palate width was measured in the anterior (P-P'), middle (M-M'), and posterior (U-U') regions. Also, the following measurements were obtained: anterior intersegment (I-C') and intrasegment (I-C); total intersegment (I-T') and intrasegment (I-T); cleft-side (C'-T') and non-cleft-side (C-T) canine tuberosity. Paired t test and Pearson correlation coefficient were applied (α = 5%). Cleft width had the following means: 10.16 (± 3.46) mm for P-P', 12.45 (± 3.00) mm for M-M', and 12.57 (± 2.71) mm for U-U'. In the longitudinal analysis, I-C' had a significant reduction, while the other measurements significantly increased (p < 0.001). Asymmetry was verified in the following analyses at T1: I-C' vs. I-C and I-T' vs. I-T (p < 0.001); at T2, only in I-C' vs. I-C (p < 0.001). At T1, P-P' vs. I-C' (r = 0.722 and p < 0.001), P-P' vs. I-T' (r = 0.593 and p < 0.001), M-M' vs. I-C' (r = 0.620 and p < 0.001), and M-M' vs. I-T' (r = 0.327 and p < 0.05) showed a positive and significant correlation. At T2, there was a correlation between M-M' and I-C' (r = 0.377 and p < 0.05). In conclusion, the anterior and middle cleft widths influenced palatal asymmetry in the first months of life, while middle width influenced residual asymmetry.

Closure of maxillary lateral incisor agenesis space in unilateral cleft lip and palate: a digital model assessment

ABSTRACT Objective: To compare dental positional and gingival parameters of maxillary anterior teeth in unilateral cleft lip and palate (UCLP) after orthodontic treatment with canine substitution due to lateral incisor agenesis. Methods: This split-mouth study comprised 57 subjects with UCLP (31 male, 26 female) and agenesis of maxillary lateral incisor at the cleft side, from a single center. Canine substitution was completed after the secondary alveolar bone graft. Dental models were taken between 2 to 6 months after debonding (mean age: 20.4 years). The following variables were measured in the maxillary anterior teeth: crown height, width, proportion, and symmetry, as well as steps between incisal edges, gingival margins, tooth mesiodistal angulation and labiolingual inclination. Paired t-tests with Bonferroni post-hoc correction was used for comparisons between cleft and non-cleft sides (p<0.05). Results: At the cleft side, canines replacing missing lateral incisors had a higher crown height (0.77mm) and an increased width (0.67mm), and first premolars showed a shorter crown height (1.39mm). Asymmetries were observed in the gingival level of central and lateral incisors, with a greater clinical crown at the cleft side (0.61 and 0.81mm, respectively). Cleft side central incisors were more upright than their contralaterals (2.12º). Conclusions: Maxillary anterior teeth demonstrated positional, size and gingival height differences between cleft and non-cleft side after space closure of maxillary lateral incisor agenesis. Slight asymmetries in tooth position and gingival margin in the maxillary anterior teeth should be expected after orthodontic treatment in UCLP patients.

RESUMO Objetivo: O presente trabalho teve como objetivo comparar parâmetros dentários posicionais e gengivais de dentes anteriores superiores em pacientes com fissura labiopalatina transforame unilateral (FLPTU) após tratamento ortodôntico com substituição de incisivo lateral ausente por canino, devido a agenesia. Métodos: Esse estudo de boca dividida reuniu uma amostra, de um mesmo centro especializado de tratamento, de 57 indivíduos com FLPTU (31 homens, 26 mulheres) e agenesia do incisivo lateral superior no lado da fissura. A substituição do incisivo lateral por um canino foi concluída após o enxerto ósseo alveolar secundário. Os modelos dentários foram obtidos entre dois e seis meses após a remoção do aparelho (idade média: 20,4 anos). Foram mensuradas nos dentes anteriores as variáveis: altura, largura, proporção e simetria da coroa, bem como as distâncias entre as bordas incisais, margens gengivais, angulação mesiodistal e inclinação vestibulolingual. O teste t pareado com correção post-hoc de Bonferroni foi usado para comparações entre os lados fissurados e não fissurados (p<0,05). Resultados: No lado fissurado, os caninos que substituíram os incisivos laterais ausentes apresentaram uma altura de coroa maior (0,77 mm) e uma largura aumentada (0,67 mm). Os primeiros pré-molares apresentaram uma altura de coroa menor (1,39 mm). Assimetrias foram observadas no nível gengival dos incisivos centrais e laterais, com maior coroa clínica no lado fissurado (0,61 e 0,81mm, respectivamente). Os incisivos centrais do lado fissurado estavam mais intruídos do que os contralaterais (2,12 mm). Conclusão: Os dentes anteriores superiores demonstraram diferenças de posição, tamanho e altura gengival entre os lados fissurado e não fissurado, após o fechamento do espaço da agenesia dos incisivos laterais superiores. Leves assimetrias na posição do dente e margem gengival nos dentes anteriores superiores devem ser esperadas após o tratamento ortodôntico em pacientes com fissura labiopalatina transforame unilateral.

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.

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.