Efectos de las Técnicas de Cierre de Fisura Labio-Máxilo-Palatina sobre el Crecimiento y Desarrollo Esqueletal: una Revisión Narrativa / Effects of Surgical Cleft Lip and Palate Closure Techniques on Skeletal Growth and Development: a Narrative Review

Las fisuras labio-máxilo-palatinas (FLMP) son malformaciones congénitas que requieren de un manejo quirúrgico complejo para devolver un correcto funcionamiento del sistema estomatognático. Sin embargo, aún no existe un consenso sobre qué modalidad quirúrgica representa los mejores resultados y sus efectos a largo plazo en el desarrollo esqueletal y funcional de los individuos. El objetivo de este trabajo fue describir mediante la información científica disponible; el efecto de los diferentes protocolos quirúrgicos para el cierre de la FLMP sobre el crecimiento y desarrollo esqueletal de los pacientes. Se realizó una búsqueda de la literatura en bases de datos Pubmed, Cochrane y Epistemonikos, contemplando estudios desde el año 2013 hasta la actualidad. Se obtuvieron un total de 999 estudios encontrados. Una vez aplicados los criterios de inclusión y exclusión, se seleccionaron 13 estudios. El tratamiento quirúrgico de las FLMP consiste en procedimientos complejos que implican alteraciones en el desarrollo esqueletal de los individuos intervenidos a largo plazo. Las discrepancias en el desarrollo esqueletal de los pacientes empiezan a detectarse durante la dentición mixta. Es recomendable extender el seguimiento hasta la etapa de la pubertad y adultez, ya que podría demostrar diferencias significativas entre las diferentes cronologías quirúrgicas empleadas.

Cleft Lip and Palate (CLP) belong to a group of congenital anomalies that require complex surgical management, in order to restore the normal function of the stomatognathic system. However, there is no consensus that determines which surgical technique is better according to its outcomes and long- term effects on the skeletal and functional development of treated individuals. The objectives of this study are To describe, using the available scientific information, the effect of the different surgical protocols regarding CLP closure, on the skeletal and functional development patients undergoing surgery. A research of the available information was made in three different databases: PubMed, Cochrane and Epistemonikos. This research included articles released since the year 2013 onwards. A total of 999 studies were found. Once exclusion and inclusion criteria were applied, 13 studies were selected. Surgical treatment of CLP consists of complex procedures which imply long-term skeletal alterations in undergoing patients. These skeletal discrepancies are first detected during the mixed dentition phase. It is recommended to extend patient follow-up up until puberty and adulthood, as it might demonstrate significant differences among the different surgical approaches.

Diferenças dentárias e craniofaciais entre fissura labiopalatal unilateral e bilateral não sindrômica reparadas em crianças e adolescentes: um estudo transversal retrospectivo / Dental and craniofacial differences between unilateral and bilateral nonsyndromic repaired cleft lip and palate in children and adolescents: a retrospective cross-sectional study

Introdução: este estudo comparou características dentárias e craniofaciais de crianças e adolescentes com fissura labiopalatal unilateral (UFLP) e bilateral (BFLP) não sindrômica reparada. Métodos: foram extraídos dados secundários dos prontuários de 42 pacientes com FLPU (n = 31) e FLPB (n = 11), 6 e 17 anos de ambos os sexos. Foram avaliadas distâncias intercaninas e intermolares, relações caninas e molares, overjet, overbite e mordida cruzada posterior em modelos de gesso; anomalias dentárias e outras ausências dentárias em radiografias panorâmicas digitais; e medidas cefalométricas em telerradiografias laterais digitais. Os dados foram expressos em frequência absoluta e percentual (qui-quadrado ou teste exato de Fisher) e média ± DP (teste de Kolmogorov-Smirnov e teste t de Student) (SPSS, p < 0,05). Resultados: a agenesia foi a anomalia dentária mais prevalente (n = 29; 69,0%) na amostra. Houve diferença estatisticamente significativa entre os grupos para overbite (UFLP 2,04 ± 2,82 mm e BFLP 4,26 ± 2,63 mm; p = 0,028) e as medidas cefalométricas (p < 0,05) 1/./1, 1/NS, 1/Orbita, 1/NB, 1-NB, 1/NPog, Pog-NB, 1-Linha I, (Go-Me).(V-T), F.(V-T), A-(V-T), discrepância cefalométrica, Prn.(Sn-Ls), Sfl/-A perpendicular e Iii-A(A-Pog). Conclusões: há diferenças dentárias e craniofaciais entre UFLP e BFLP, e isso deve ser considerado no plano de tratamento ortodôntico-cirúrgico desses pacientes, a fim de proporcionar uma abordagem mais adequada.

Introduction: this study compared dental and craniofacial characteristics of children and adolescents with unilateral cleft lip and palate (UFLP) and bilateral cleft lip and palate (BFLP) non-syndromic repairs. Methods: secondary data were extracted from the medical records of 42 patients with UFLP (n = 31) and BFLP (n = 11), aged 6 to 17 years and both genders. Intercanine and intermolar distances, canine and molar relationships, overjet, overbite, and posterior crossbite were evaluated on plaster models; dental anomalies and other dental absences on digital panoramic radiographs; and cephalometric measurements on digital lateral cephalometric radiographs. Data were expressed as absolute frequency and percentage (chi-square or Fisher's exact test) and mean ± SD (Kolmogorov-Smirnov test and Student's t-test) (SPSS, p < 0.05). Results: agenesis was the most prevalent dental anomaly (n = 29; 69.0%) in the sample. There was a statistically significant difference between the groups for overbite (UFLP 2.04 ± 2.82 mm and BFLP 4.26 ± 2.63 mm; p = 0.028) and cephalometric measurements (p < 0.05) 1/./1, 1/NS, 1/Orbita, 1/NB, 1-NB, 1/NPog, Pog-NB, 1-Line I, (Go-Me).(V-T), F.(V-T), A-(V-T), cephalometric discrepancy, Prn.(Sn-Ls), Sfl/-A perpendicular, and Iii-A(A-Pog). Conclusions: there are dental and craniofacial differences between UFLP and BFLP, and it should be considered in the orthodontic-surgical treatment plan of these patients to provide a more appropriate approach.

É possível identificar anomalias dentárias em pacientes com fissura labiopalatina por meio de radiografias panorâmicas? Uma revisão integrativa / Is it possible to identify dental abnormalities in patients with cleft lip and palate through panoramic radiograph? An integrative review

Objetivo: revisar a literatura acerca da presença de anomalias dentárias por meio de radiografias panorâmicas de pacientes com fissura labiopalatina. Métodos: a busca foi realizada utilizando-se os descritores DECs/MeSH "Radiography, panoramic", "Cleft palate" e "Tooth Abnormalities", submetidos às bases de dados LILACS, SciELO, PubMed e Portal de Periódicos da Capes. Foram aceitos artigos observacionais e de caso-controle, publicados entre 2018 e 2022, em português, inglês ou espanhol. Resultados: trinta e dois artigos foram encontrados a partir dos critérios de inclusão. Dentre eles, foram excluídos artigos de revisão, relatos de caso e livros, além daqueles que não se enquadraram nos objetivos do estudo ou que estivessem publicados exclusivamente em outras línguas. Por fim, 5 artigos compuseram esta revisão. Entre as anomalias dentárias identificadas, a agenesia foi a mais prevalente, acometendo, majoritariamente, o incisivo lateral superior. Outras anomalias encontradas também foram relatadas, como hiperdontia, impactações, dilacerações radiculares, giroversões, geminações e fusões, e distúrbios na erupção. Conclusão: é possível considerar a radiografia panorâmica como recurso auxiliar no diagnóstico dessas anomalias com maior precisão.

Objective: the aim of this study is to review the literature on the presence of dental anomalies identified through panoramic radiographs of patients with cleft lip and palate. Methods: the search was carried out using the DECs/MeSH descriptors "Radiography, panoramic", "Cleft palate", and "Tooth Abnormalities", which were submitted to the LILACS, SciELO, PubMed, and Portal de Periódicos da Capes databases. Observational and case-control articles published between 2018 and 2022 in English, Portuguese, and Spanish were accepted. Results: thirty-two (32) articles were accepted according to the inclusion criteria. Among them, review articles, case reports and books were excluded, as well as articles that did not fit the objectives of this study or that were published only in other languages. Finally, five (5) articles were considered to compose this review. Among the identified dental anomalies, dental agenesis was the most prevalent, especially affecting the upper lateral incisor. Other anomalies found were also reported, such as hyperdontia, impaction, root laceration, rotation, twinning, and fusion, in addition to eruption disorders. Conclusion: It's possible to consider panoramic radiography as an important resource in the diagnosis of these anomalies with more precision.

Prevalência de anomalias dentárias e outros achados orais em radiografias panorâmicas de brasileiros com fissura labiopalatal: um estudo retrospectivo / Prevalence of dental anomalies and other oral findings on panoramic radiographs of Brazilian with cleft lip and palate: a retrospective study

Objetivo: avaliar a prevalência de anomalias dentárias (AD) e outros achados orais em radiografias panorâmicas de pacientes com fissuras labiopalatais (FLP) nascidos no Nordeste brasileiro. Métodos: a amostra foi composta por 69 pacientes com fissuras labiopalatais unilateral (FLPu) (n = 51) e bilateral (FLPb) (n = 18), não sindrômicos, de ambos os sexos, idade de 6 a 17 anos, nascidos no Nordeste brasileiro. Foram analisados prontuários e radiografias panorâmicas de pacientes atendidos de janeiro/2020 a julho/2022. Os dados categóricos foram expressos em forma de frequência absoluta e percentual e comparados por teste exato de Fisher ou qui-quadrado de Pearson (SPSS, p < 0,05). Resultados: entre os achados orais, destacaram-se as anomalias de número e as ausências dentárias por trauma, cárie ou doença periodontal. As AD foram identificadas em 34 pacientes (49,3%). As anomalias de número apresentaram maior prevalência, com diferença estatística significativa para pacientes FLPb do sexo masculino (p = 0,047). A agenesia foi a AD mais frequente (n = 24; 34,8%). As ausências dentárias por trauma, cárie ou doença periodontal foram observadas em 44 pacientes (n = 63,8%), com uma diferença estatística significativa entre os grupos FLPu e FLPb (p = 0,018). Conclusões: as AD e as ausências dentárias por trauma, cárie ou doença periodontal apresentaram uma alta prevalência entre pacientes brasileiros com FLP e devem ser consideradas durante o planejamento ortodôntico-cirúrgico desses indivíduos.

Aim: this study aimed to assess the prevalence of dental anomalies (DA) and other oral findings in panoramic radiographs of patients with cleft lip and palate (CLP) born in the Northeast region of Brazil. Methods: the sample consisted of 69 patients with unilateral cleft lip and palate (UCLP) (n = 51) and bilateral cleft lip and palate (BCLP) (n = 18), non-syndromic, of both genders, aged 6 to 17 years, born in the Brazilian Northeast. Patient records and panoramic radiographs from those treated between January 2020 and July 2022 were analyzed. Categorical data were expressed as absolute frequency and percentage and compared using Fisher's exact test or Pearson's chi-square test (SPSS, p < 0.05). Results: among oral findings, anomalies in number and tooth absences due to trauma, caries, or periodontal disease stood out. DAs were identified in 34 patients (49.3%). Anomalies in number showed higher prevalence, with a statistically significant difference for male BCLP patients (p = 0.047). Agenesis was the most frequent DA (n = 24; 34.8%). Tooth absences due to trauma, caries, or periodontal disease were observed in 44 patients (63.8%), with a statistically significant difference between the UCLP and BCLP groups (p = 0.018). Conclusions: DAs and tooth absences due to trauma, caries, or periodontal disease showed a high prevalence among Brazilian patients with CLP and should be considered during the orthodontic-surgical planning for these individuals.

Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.

Anquilobléfaro filiforme congênito / Ankyloblepharon filiforme adnatum

RESUMO O anquiloblefáro filiforme congênito é uma rara anomalia congênita, caracterizada por uma fusão palpebral, parcial ou completa, cuja incidência é de 4,4 por 100 mil recém-nascidos. Normalmente, o anquiloblefáro filiforme congênito constitui uma malformação solitária, de ocorrência esporádica, no entanto, pode estar associado a outras malformações. O pediatra possui papel imprescindível para observar as alterações clínicas do recém-nascido e dar orientação para o tratamento adequado. O objetivo deste estudo foi relatar o caso de recém-nascido de termo que teve diagnóstico precoce de anquiloblefáro filiforme congênito associado a outras malformações congênitas, tendo desfeito as aderências em procedimento cirúrgico oportuno, evitando-se a evolução para futuras complicações visuais do paciente.

ABSTRACT Ankyloblepharon filiforme adnatum is a rare congenital anomaly, characterized by partial or complete palpebral fusion, with an incidence of 4.4 per 100,000 newborns. Normally, ankyloblepharon filiforme adnatum constitutes a solitary malformation, with sporadic occurrence, however, it can be associated with other malformations. Pediatricians play an essential role in observing clinical changes in newborns and providing guidance on appropriate treatment. The this study aims to report the case of a full-term newborn who had an early diagnosis of ankyloblepharon filiforme adnatum associated with other congenital malformations.

Fatores associados à adesão ao aleitamento materno em lactentes com fissura orofacial: revisão de escopo / Factors associated with breastfeeding adherence in infants with orofacial clefts: a scoping review / Factores asociados a la adherencia a la lactancia materna en lactantes con fisura orofacial: revisión del alcance

RESUMO: Objetivo: Mapear os fatores associados à adesão ao aleitamento materno em lactentes com fissura orofacial. Método: Revisão de escopo conforme recomendações do Instituto Joanna Briggs, com busca realizada em março de 2023, nas bases de dados PubMed, CINAHL, Web of Science, SCOPUS, EMBASE, LILACS, ProQuest e BDTD. Resultados: Foram selecionados 31 documentos. Fatores associados a adesão ao aleitamento materno incluíram: complexidade anatômica da fissura, orientação/treinamento pré e pós-natal, desejo de amamentar, experiência prévia, conhecimento dos benefícios da amamentação, uso de obturadores palatinos, uso de sonda alimentadora, apoio social, familiar e profissional, ordenha e oferta por utensílios e realização precoce da queiloplastia. Conclusão: Embora a complexidade da fissura consista em um fator não modificável precocemente, as demais variáveis que influenciam à adesão ao aleitamento materno são passíveis de intervenções. Assim, o apoio de todos os envolvidos no processo de amamentação é fundamental para sua otimização.

ABSTRACT Objective: To map the factors associated with breastfeeding adherence in infants with orofacial clefts. Method: Scoping review according to the recommendations of the Joanna Briggs Institute, with a search carried out in March 2023 in the PubMed, CINAHL, Web of Science, SCOPUS, EMBASE, LILACS, ProQuest and BDTD databases. Results: A total of 31 documents were selected. Factors associated with adherence to breastfeeding included: anatomical complexity of the cleft, preand post-natal guidance/training, desire to breastfeed, previous experience, knowledge of the benefits of breastfeeding, use of palatal obturators, use of feeding tube, social, family, and professional support, milking and offering by utensils and early performance of cheiloplasty. Conclusion: Although the complexity of the cleft is a factor that cannot be changed early on, the other variables that influence adherence to breastfeeding can be intervened upon. Thus, the support of all those involved in the breastfeeding process is fundamental for its optimization.

RESUMEN: Objetivo: Mapear los factores asociados a la adherencia a la lactancia materna en lactantes con fisuras orofaciales. Método: Revisión de alcance según recomendaciones del Instituto Joanna Briggs, la búsqueda se realizó en marzo de 2023, en las bases de datos PubMed, CINAHL, Web of Science, SCOPUS, EMBASE, LILACS, ProQuest y BDTD. Resultados: Se seleccionaron 31 documentos. Los factores asociados a la adherencia a la lactancia materna incluyeron: complejidad anatómica de la fisura, orientación/capacitación prenatal y posnatal, deseo de amamantar, experiencia previa, conocimiento sobre los beneficios de la lactancia materna, uso de obturadores palatinos, uso de sonda de alimentación, apoyo social, familiar y profesional, extracción de leche y administración mediante utensilios y queiloplastía temprana. Conclusión: Si bien la complejidad de la fisura es un factor que no puede modificarse tempranamente, las demás variables que influyen en la adherencia a la lactancia materna son pasibles de intervención. Por lo tanto, el apoyo de todos los implicados en el proceso de lactancia materna es fundamental para su optimización.

Efeitos do modelador nasoalveolar (NAM) associado ou não à queiloplastia em indivíduos com fissura labiopalatina: ensaio clínico e revisão sistemática de literatura / Effects of Nasoalveolar Molding (NAM) associated or not with cheiloplasty in individuals with cleft lip and palate: clinical trial and systematic literature review

Fissuras labiopalatinas ocorrem devido a uma falha na fusão embrionária. O modelador nasoalveolar (NAM) é uma intervenção ortopédica anterior à cirurgia labial. Os objetivos deste trabalho são: avaliar o efeito do NAM na simetria facial/arco maxilar e seu impacto psicossocial. Realizar uma revisão sistemática para investigar o impacto do NAM na simetria nasal. A metodologia utilizada foi avaliar 2 grupos (26 bebês tratados com NAM e 12 bebês não tratados com NAM) em dois tempos; antes do NAM (T1) e depois do NAM (T2). Foram analisados: perímetro do arco maxilar (PA), comprimento do arco maxilar (CA) e ângulo do freio labial (AFL), largura nasal (LN), largura bucal (LB), ângulo da columela (AC) e área da narina (AN). Estes mesmos 2 grupos foram comparados antes do NAM e após queiloplastia. O impacto da condição fissura no bebê na rotina familiar também foi avaliado. E ainda foram realizadas buscas eletrônicas considerando estudos que comparavam indivíduos submetidos à queiloplastia/NAM e indivíduos submetidos apenas à queiloplastia. Foram realizadas meta-análises, avaliação do risco de viés e da força da evidência. Nos resultados pudemos ver que houve aumento de PA e CA nos grupos NAM e Controle no período T2 em relação ao T1. O AFL foi reduzido no grupo NAM em comparação com os períodos NAM-T1 e Controle-T2. O NAM produziu uma redução no LN no período de T2 em relação ao T1. AC foi melhorado após o uso de NAM em T2. A AN foi reduzida no grupo NAM em T2 em relação ao Controle. O grupo NAM apresentou redução na largura nasal pós-NAM e queiloplastia. A largura da boca e o ângulo da columela apresentaram alterações no grupo NAM no pós-operatório. Houve redução na área da narina fissurada após o NAM. As pontuações globais do FIS foram mais altas em T1 do que em T2, configurando um impacto positivo do uso do NAM nas famílias. Nas buscas eletrônicas foram recuperados 416 artigos e nove foram incluídos. No grupo NAM houve aumento na altura das narinas e na largura e comprimento da columela. A largura das narinas e a largura bialar diminuíram no curto prazo e aumentaram no longo prazo nos indivíduos submetidos à queiloplastia e NAM. Seis estudos exibiram risco moderado de viés; três exibiram um sério risco de viés. A força da evidência variou de muito baixa a moderada. Desta forma, pudemos concluir que o tratamento NAM melhorou as medidas AFL, LN e AC, melhorando a simetria maxilar e nasal. O NAM promoveu aumento do ângulo da columela e redução das larguras da boca e do nariz, e ainda, redução da área da narina afetada pela fissura. O NAM mostrou um impacto positivo nas emoções familiares. A altura da narina e largura/comprimento columelar foram favorecidos pela queiloplastia seguida do NAM. O comprimento alar foi impactado positivamente pelo NAM.

Cleft lip and palate occur due to a failure in embryonic fusion. The nasoalveolar molding (NAM) is an orthopedic intervention prior to lip surgery. The objectives of this study are: to evaluate the effect of NAM on facial symmetry/maxillary arch and its psychosocial impact. To conduct a systematic review to investigate the impact of NAM on nasal symmetry. The methodology used was to evaluate 2 groups (26 babies treated with NAM and 12 babies not treated with NAM) in two time points; before NAM (T1) and after NAM (T2). The following were analyzed: maxillary arch perimeter (AP), maxillary arch length (AL) and labial frenum angle (LFA), nasal width (NW), buccal width (BW), columella angle (CA) and nostril area (NA). These same 2 groups were compared before NAM and after cheiloplasty. The impact of the cleft condition on the baby's family routine was also evaluated. Electronic searches were also performed considering studies that compared individuals undergoing cheiloplasty/NAM and individuals undergoing only cheiloplasty. Meta-analyses, assessment of risk of bias and strength of evidence were performed. The results showed that there was an increase in AP and AC in the NAM and Control groups in the T2 period compared to T1. LFA was reduced in the NAM group compared to the NAM-T1 and Control-T2 periods. NAM produced a reduction in LN in the T2 period compared to T1. CA was improved after the use of NAM in T2. NA was reduced in the NAM group in T2 compared to the Control. The NAM group showed a reduction in nasal width after NAM and cheiloplasty. The width of the mouth and the angle of the columella showed changes in the NAM group in the postoperative period. There was a reduction in the area of the cleft nostril after NAM. The global FIS scores were higher in T1 than in T2, configuring a positive impact of the use of NAM on families. In the electronic searches, 416 articles were retrieved and nine were included. In the NAM group, there was an increase in nostril height and columella width and length. Nostril width and bialar width decreased in the short term and increased in the long term in individuals undergoing cheiloplasty and NAM. Six studies showed a moderate risk of bias; three showed a serious risk of bias. The strength of evidence ranged from very low to moderate. Thus, we were able to conclude that NAM treatment improved LFA, NW and CA measurements, improving maxillary and nasal symmetry. NAM promoted an increase in the columella angle and a reduction in the widths of the mouth and nose, and also a reduction in the area of the nostril affected by the cleft. NAM showed a positive impact on family emotions. Nostril height and columellar width/length were favored by cheiloplasty followed by NAM. Alar length was positively impacted by NAM.

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.

ENAM gene polymorphisms associated with dental anomalies in individuals with cleft lip and palate

Aim: This study aimed to investigate the occurrence of enamelin gene (ENAM) single nucleotide polymorphisms (SNP) and ENAM polymorphism association with dental anomalies (DA) in individuals with unilateral or bilateral cleft lip and palate (CLP). Methods: Saliva samples were collected from 147 individuals aged between 6 and 15 years-old, both genders, and divided into 4 groups: Group 1 (G1) - CLP and DA; Group 2 (G2) - CLP without DA; Group 3 (G3) - without CLP with DA; Group 4 (G4) - without CLP and DA. The genomic DNA was extracted from saliva samples and the following ENAM SNPs markers were genotyped: rs3796703, rs3796704, rs3796705, rs7671281, rs2609428, and rs35951442. Fisher exact and Pearson's Chi-square tests statistically analyzed the results (α=5%). Results: Individuals without CLP with DA (Group 3 - 19.2%) showed statistically higher prevalence of SNP rs2609428 heterozygotes (p=0.006) than individuals with CLP and DA (Group 1 - 0%). Individuals without CLP (10%) exhibited statistically higher prevalence of mutated heterozygotes/homozygous (p=0.028) than in individuals with CLP (1.3%). Conclusion: SNP rs2609428 marker of ENAM gene may be associated with dental anomalies in individuals without cleft lip and palate

Hyaluronic Acid Dermal Fillers for Treatment of Congenital and Acquired Lip Asymmetries and Deformities / Rellenos Dérmicos de Ácido Hialurónico para el Tratamiento de Asimetrías y Deformidades Labiales Congénitas y Adquiridas

Hyaluronic acid (HA) dermal fillers are widely used in aesthetic treatments for facial and lip modeling. Despite HA fillers has largely known to be use in procedures for augmentation the lip volume, their application to management lip abnormalities is not widespread. This study reviewed the use of HA fillers for reconstruction of congenital and acquired li p asymmetries and deformities, searching to expand knowledge about this treatment modality. To undertake this narrative review, the Medline-Pubmed, Web of Science, Scopus, Embase, Google Schoolar e Lillacs databases were searched. Several studies have reported positive results in the use of HA fillers for the treatment of lip deformities caused by different factors such as: Insatisfactory dermal fillers, permanent lip implants, excision of lip carcinoma, post-operative scars and electrical burns. HA fillers are also an alternative for the management of lip asymmetries and residual surgical scars in patients with cleft lip. Moreover, injection of HA fillers in individuals with facial paralysis and facioscapulohumeral muscular dystrophy can also improve lip incompetence. Additionally, HA fillers can be used as a complementary treatment in cases of severe malocclusion associated with skeletal changes, helping to maintain the seal and refine the lip appearance. Therefore, HA fillers can be used as alternative treatment for several types of congenital and acquired lip deformities and asymmetries. However, it is necessary to carry out randomized clinical trials with a greater number of patients and follow-up time, in order to investigate the benefits of the HA fillers for carriers patients of lip abnormalities.

Los rellenos dérmicos de ácido hialurónico (AH) son muy utilizados en tratamientos estéticos para el modelado facial y de labios. A pesar de que se sabe en gran medida que los rellenos de HA se utilizan en procedimientos para aumentar el volumen de los labios, su aplicación para el tratamiento de anomalías labiales no está muy extendida. Este estudio revisó el uso de rellenos de HA para la reconstrucción de asimetrías y deformidades labiales congénitas y adquiridas, buscando ampliar el conocimiento sobre esta modalidad de tratamiento. Para realizar esta revisión narrativa, se realizaron búsquedas en las bases de datos Medline-Pubmed, Web of Science, Scopus, Embase, Google Schoolar y Lillacs. Varios estudios han reportado resultados positivos en el uso de rellenos de HA para el tratamiento de deformidades labiales causadas por diferentes factores tales como: rellenos dérmicos insatisfactorios, implantes labiales permanentes, escisión de carcinoma labial, cicatrices postoperatorias y quemaduras eléctricas. Los rellenos de HA también son una alternativa para el manejo de asimetrías labiales y cicatrices quirúrgicas residuales en pacientes con labio hendido. Además, la inyección de rellenos de HA en personas con parálisis facial y distrofia muscular facioescapulohumeral también puede mejorar la incompetencia de los labios. Además, los rellenos de HA se pueden usar como un tratamiento complementario en casos de maloclusión severa asociada con cambios esqueléticos, lo que ayuda a mantener el sellado y refinar la apariencia de los labios. Por lo tanto, los rellenos de HA se pueden utilizar como tratamiento alternativo para varios tipos de deformidades y asimetrías labiales congénitas y adquiridas. Sin embargo, es necesario realizar ensayos clínicos aleatorizados con mayor número de pacientes y tiempo de seguimiento, para investigar los beneficios de los rellenos HA para pacientes portadores de anomalías labiales.

Displasia frontonasal / Frontonasal dysplasia

Los trastornos del desarrollo son aquellos padecimientos que se manifiestan por defectos en la embriogénesis de la región afectada. La cara del ser humano comienza su formación alrededor de la cuarta semana de vida intrauterina y se manifiesta gracias a la fusión de cinco prominencias: dos pares conocidas como maxilar y mandibular, y una impar conocida como frontonasal. Cuando esta fusión no se lleva a cabo de una forma óptima, aparecen numerosas alteraciones del desarrollo como el labio y paladar hendido, y la displasia frontonasal. La displasia frontonasal produce frecuentemente afecciones oculares, nasales y orales. Dentro de las manifestaciones orales destacan una forma atípica de hendidura labial o palatina, afecciones dentales y alteraciones en el crecimiento de la cara. Dada la gran relación que este padecimiento tiene con la cavidad oral resulta importante que el odontólogo conozca la etiología y las características clínicas de este trastorno (AU)

Developmental disorders are those conditions that are manifested by defects in the embryogenesis of the affected region. The human face begins its formation around the fourth week of intrauterine life and is manifested thanks to the fusion of five prominences: two pairs known as maxillary and mandibular and odd one known as frontonasal. When this fusion is not carried out in an optimal way, numerous developmental alterations appear, such as cleft lip and palate and frontonasal dysplasia. Frontonasal dysplasia frequently produces ocular, nasal and oral affections. Among the oral manifestations, and atypical form of clef lip and/or palate, dental affections and alterations in the growth of the face stand out. Given the great relationship that this condition has with the oral cavity, it is important for the dentist to know the etiology and clinical characteristics of this disorder (AU)

Uso del modelador nasolabial (NAM) como tratamiento ortopédico prequirúrgico de paciente con labio y paladar hendido / Use of nasoalveolar molding (NAM) as a pre-surgical orthopedic treatment for patients with cleft lip and palate

Introducción: el labio y paladar hendido es la malformación craneofacial congénita más frecuente y es producida por una falla en la fusión de procesos faciales durante periodos iniciales en el desarrollo embrionario. Objetivo: el objetivo de la ortopedia prequirúrgica es facilitar la primera intervención para la corrección de esta condición de manera que disminuya el trauma quirúrgico, al obtener una menor formación de cicatrices y menor riesgo de complicaciones postquirúrgicas, además de ayudar a obtener una óptima deglución en el paciente para mejorar el aspecto nutricional en el bebé. Material y métodos: el paciente fue llevado a la clínica a las dos semanas de nacido para la toma de impresión y colocación de un aparato ortopédico; se le colocó el NAM (nasoalveolar molding), la cinta transport, además se realizaban citas una vez al mes para evaluar el stent nasal, activarlo y revisar que la colocación de la cinta estuviese correcta, así como para comprobar que la alimentación del bebé estuviera mejorando. Resultados: se observa una mejoría anatómica y fisiológica, también una disminución de la fisura labial de 6 mm y una remodelación nasal. Se notó una mejora en deglución y alimentación con ganancia de peso. Conclusiones: la ortopedia prequirúrgica con el NAM es una terapia aceptable y recomendable para los pacientes con labio y paladar hendido, ya que nos ayudan a generar mejores resultados quirúrgicos, además de colaborar con el aspecto nutricional del bebe (AU)

Introduction: cleft lip and palate is a craniofacial malformation most frequent congenital and is produced by a failure to fuse facial processes during early periods in embryonic development. Objective: the objective of pre-surgical orthopedics is to facilitate the first intervention for the correction of this condition, reducing surgical trauma, obtaining less scar formation and less risk of post-surgical complications, in addition to helping the patient obtain better swallowing to improve the nutritional aspect in the baby. Material and methods: the patient came to the clinic at two weeks of age for impression taking and placement of the orthopedic device. The NAM (nasoalveolar molding) and the transport tape were placed and appointments were made once a month to evaluate the nasal stent, activate it and check that the placement of the tape was correct, as well as to check that the baby's feeding was improving. Results: an anatomical and physiological improvement is observed, as well as a 6mm decrease in the cleft lip and nasal remodeling. An improvement in swallowing and feeding with weight gain was observed. Conclusions: pre-surgical orthopedics with NAM is an acceptable and recommended therapy for patients with cleft lip and palate since it helps us to generate better surgical results in addition to collaborating with the nutritional aspect of the baby (AU)

Pudendal nerve block for circumcision of pediatric patient with Pierre Robin Sequence: case report

Abstract Pierre Robin Sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and cleft palate that presents with airway obstruction and developmental delay with or without other congenital anomalies. These patients' anesthesia management is challenging because of difficult ventilation and intubation. Regional anesthesia methods should be considered for these patients on a case-by-case basis. This report presents primary use of regional anesthesia for circumcision of a 9-year-old boy with PRS.

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.

Progress in research of risk prediction of non-syndromic oral clefts using genetic information / 中华流行病学杂志

Non-syndromic oral cleft (NSOC), a common birth defect, remains to be a critical public health problem in China. In the context of adjustment of childbearing policy for two times in China and the increase of pregnancy at older childbearing age, NSOC risk prediction will provide evidence for high-risk population identification and prenatal counseling. Genome-wide association study and second generation sequencing have identified multiple loci associated with NSOC, facilitating the development of genetic risk prediction of NSOC. Despite the marked progress, risk prediction models of NSOC still faces multiple challenges. This paper summarizes the recent progress in research of NSOC risk prediction models based on the results of extensive literature retrieval to provide some insights for the model development regarding research design, variable selection, model-build strategy and evaluation methods.

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.

Three-dimensional reconstruction reveals the correlation between the extent of alveolar clefts and secondary nasal deformity in adults / 华西口腔医学杂志

OBJECTIVES@#This study aimed to explore the relationship between alveolar cleft and secondary nasal deformity post unilateral cleft lip repair in adults.@*METHODS@#A total of 27 patients aged 16-30 years old with unilateral secondary nasal deformity and alveolar cleft were included, 13 of whom underwent bone grafting. Spiral CT data of all preoperative and postoperative patients who had alveolar bone grafting were collected. Then, Mimics software was used for three-dimensional reconstruction to evaluate the correlation between the width, height, and volume of the alveolar cleft and those of the nasal deformity. The difference in nasal deformity before and after alveolar bone grafting was also explored.@*RESULTS@#The width of the alveolar cleft was positively correlated with the difference in bilateral nostril floor width (P<0.05). As the effective depth of the alveolar cleft increased, the sub-alare inclination angle largened (P<0.05). However, no significant difference was found in the nasal deformity between before and after alveolar bone grafting.@*CONCLUSIONS@#Alveolar cleft is closely related to secondary nasal deformities post unilateral cleft lip repair, especially nasal floor deformities. Alveolar bone grafting benefits adult patients for the improvement of secondary nasal deformities post unilateral cleft lip repair.