Reducing delayed detection of isolated cleft palate-related deformity: a call for routine intraoral examination of newborns

Abstract Objective: To provide healthcare professional-friendly practical recommendations for early detection of cleft palate-related deformities in newborns and offer an overview of managing these high-prevalent congenital abnormalities. Source of data: PubMed, SciELO, Lilacs, Cochrane, ScienceDirect, and Scopus databases were reviewed for cleft- and diagnosis-related studies. Summary of the findings: Unfortunately, the global prevalence of delayed detection of cleft palate-related deformities remains unacceptably high, with over a quarter of cleft palates missed at birth. This delayed identification causes physical and psychological distress for patients and families, including feeding challenges and weight faltering. To improve cleft management, it is essential to adopt routine detailed, in-depth intraoral examination immediately after birth. It is recommended not only to finger-assisted palpate the intraoral structures but also to visually inspect the oral cavity from gingiva to uvula using a wooden tongue depressor and light-assisted examination. With timely diagnosis and referral to specialized care, pediatricians, nurses, speech therapists, and plastic surgeons provide life-changing treatments, including health care maintenance, anticipatory guidance, feeding support, primary surgical reconstruction, and age-and condition-specific protocols. Conclusions: Encouraging neonatologists and pediatricians, who are the first to examine new-borns, to actively investigate the intraoral region for cleft palate-related deformities is instrumental in optimizing therapeutic approaches and prioritizing age-phases in treatment. Their crucial role in early detection and referral can lead to transformative outcomes, impacting not only the future of the newborns by facilitating functional integration into society but also yielding positive effects on families and the health system.

Prevalência de fissuras labiopalatais no Brasil e sua notificação no sistema de informação / Prevalence of cleft lip and palate in Brazil and its notification in the information system

Introdução: A fissura labiopalatina é a deformidade congênita mais comum, com uma incidência de 1,53/1000 nascidos vivos e o tratamento predominantemente realizado no Sistema Único de Saúde (SUS). Em 1999, o Sistema de Informações sobre Nascidos Vivos (SINASC) implantou a lacuna para preenchimento referente a deformidade congênita. Trabalhos vêm demostrando a subnotificação importante da fissura no SINASC. Método: Foi levantado o número de crianças nascidas por ano no Brasil entre 2012 e 2018 nas respectivas regiões, projetando o número de fissurados nascidos por ano usando a proporção 1,53/1000 nascidos vivos. A partir destes dados, observado o número de fissurados notificados no sistema SUS e comparado com a projeção feita observando uma estimativa de notificação por região. Verificada também a evolução dos gastos governamentais por região com cirurgia de fissura labiopalatina no período de 2012 a 2018. Resultados: Houve uma notificação de 54,1% a 36,7% das crianças nascidas com fissura, sendo a Região Sudeste com melhor índice e o Nordeste com o índice mais baixo de notificação. Os gastos federais em cirurgia de fissura labiopalatina diminuíram entre 2012 e 2018, frente ao número de nascimentos com fissuras, que se manteve estável neste período. Conclusão: Apesar do SINASC ser uma ferramenta importante, as subnotificações expressivas desta afecção impactam nas políticas públicas, pois utilizam dados inconsistentes com a realidade. Outra preocupação é a diminuição dos gastos federais com cirurgias de fissurados, o que demostra que mais crianças estão deixando de receber tratamento adequado.

Introduction: Cleft lip and palate is the most common congenital deformity, with an incidence of 1.53/1000 live births, and treatment is predominantly carried out in the Unified Health System (Sistema Único de Saúde SUS). In 1999, the Live Birth Information System (Sistema de Informações sobre Nascidos Vivos SINASC) implemented the gap to be filled in regarding congenital deformities. Studies have demonstrated the significant underreporting of the fissure in SINASC. Method: The number of children born per year in Brazil between 2012 and 2018 was surveyed in the respective regions, projecting the number of cleft children born per year using the proportion 1.53/1000 live births. From these data, the number of cleft patients notified in the SUS system was observed and compared with the projection made by observing an estimate of notification by region. The evolution of government spending by region on cleft lip and palate surgery in the period from 2012 to 2018 was also verified. Results: There was a notification of 54.1% to 36.7% of children born with cleft, with the Southeast Region having the best rate and the Northeast with the lowest notification rate. Federal spending on cleft lip and palate surgery decreased between 2012 and 2018, compared to the number of births with clefts, which remained stable during this period. Conclusion: Although SINASC is an important tool, the significant underreporting of this condition impacts public policies, as it uses data inconsistent with reality. Another concern is the decrease in federal spending on cleft surgery, which shows that more children are failing to receive adequate treatment.

Incidência de complicações durante os anos iniciais de formação de um serviço de fissuras labiopalatinas / Incidence of complications during the initial years of formation of a cleft lip and palate service

Introdução: A fissura labiopalatina é a malformação congênita craniofacial mais comum. Dificuldades na alimentação, fala e audição são comuns nestes pacientes, necessitando de tratamento multidisciplinar, o que dificulta a criação e manutenção de serviços especializados. A diversidade de classificações e o grande número de técnicas cirúrgicas utilizadas nas cirurgias primárias (queiloplastia e palatoplastia) dificultam a comparação de dados epidemiológicos e de complicações entre os serviços, existindo carência de estudos avaliando centros especializados em fissuras labiopalatinas recém-criados. Método: Foi realizado estudo do tipo coorte prospectiva com pacientes com diagnóstico de fissura labiopalatina submetidos a procedimentos cirúrgicos primários, no Hospital de Clínicas da Universidade Federal de Uberlândia, entre julho de 2017 e fevereiro de 2023. Foram incluídos pacientes menores de 18 anos com acompanhamento pós-operatório de pelo menos 3 meses. Resultados: Participaram do estudo 79 pacientes, que foram submetidos a 115 cirurgias primárias (54 queiloplastias e 61 palatoplastias). Foram relatadas 11 complicações neste período: 2 deiscências em queiloplastia (3,70%), 1 cicatriz hipertrófica em queiloplastia (1,85%), 6 fístulas em palatoplastia (9,83%) e 2 deiscências em palatoplastia (3,28%). A incidência de complicações foi de 9,56% quando analisado o total de cirurgias, sendo 5,55% nos pacientes submetidos a queiloplastia e 13,11% nos pacientes submetidos a palatoplastia. Conclusão: A incidência de complicações durante os anos iniciais de estruturação do serviço foi semelhante a outros estudos da literatura.

Introduction: Cleft lip and palate is the most common congenital craniofacial malformation. Difficulties in eating, speaking, and hearing are common in these patients, requiring multidisciplinary treatment, which makes it difficult to create and maintain specialized services. The diversity of classifications and the large number of surgical techniques used in primary surgeries (cheiloplasty and palatoplasty) make it difficult to compare epidemiological data and complications between services, and there is a lack of studies evaluating newly created specialized centers for cleft lip and palate. Method: A prospective cohort study was carried out with patients diagnosed with cleft lip and palate who underwent primary surgical procedures at the Hospital de Clínicas of the Universidade Federal de Uberlândia, between July 2017 and February 2023. Patients under 18 years of age with follow-up were included. post-operative period of at least 3 months. Results: 79 patients participated in the study, who underwent 115 primary surgeries (54 cheiloplasties and 61 palatoplasties). 11 complications were reported in this period: 2 dehiscences in cheiloplasty (3.70%), 1 hypertrophic scar in cheiloplasty (1.85%), 6 fistulas in palatoplasty (9.83%) and 2 dehiscences in palatoplasty (3.28%). The incidence of complications was 9.56% when analyzing the total number of surgeries, being 5.55% in patients undergoing cheiloplasty and 13.11% in patients undergoing palatoplasty. Conclusion: The incidence of complications during the initial years of structuring the service was similar to other studies in the literature.

Efectos de las Técnicas de Cierre de Fisura Labio-Máxilo-Palatina sobre el Crecimiento y Desarrollo Esqueletal: Una Revisión Narrativa

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.

Calidad de vida y factores condicionantes en personas con Labio Fisurado y Paladar Hendido No Sindrómico (LPHNs): experiencias de familiares, pacientes, y personal de salud / Quality of life and conditioning factors in people with Non-syndromic Cleft Lip and Palate (NSCLP): experiences of family members, patients, and health personnel

Objetivo: comprender las percepciones sobre calidad de vida (CV) y sus factores condicionantes en personas con Labio Fisurado y Paladar Hendido No Sindrómico (LPHNs), desde la experiencia de las personas con esta condición, y desde sus familias y equipo de salud. Métodos: estudio cualitativo con perspectiva fenomenológica. Se realizaron entrevistas semiestructuradas a seis individuos que cumplían los criterios de participación (4 mujeres) y seis familiares (esposos, hermanos, padre/madre) mediante un guion estructurado. Esta información se complementó con una entrevista a un ortodoncista con experiencia en atención a estos individuos y un grupo focal con laparticipación de profesionales de la salud. Se realizó análisis de contenido cualitativo y estrategias de reducción fenomenológica desde los discursos experienciales de la población participante. Se contó con aprobación ética e institucional. Resultados: se encontraron cuatro categorías principales desde la experiencia de las personas con LPHNs que involucran diferentes perspectivas de los participantes del estudio: 1) concepto de CV y sus factores condicionantes, 2) experiencia de vida con la condición de LPHNs; 3) experiencia durante el tratamiento integral para la condición de LPHNs; y 4) expectativas generales. Todas estas categorías reflejan la historia de vida, los elementos individuales y sociales, y las dificultades propias de su condición. Conclusiones: existen factores individuales, sociales y contextuales que inciden en la CV de los pacientes con LPHNs. Esto implica un abordaje intersectorial y multidisciplinario que permita la generación de políticas en salud y estrategias de tratamiento acordes a las necesidades individuales y colectivas de estas personas.

Objective: Understand the perceptions and experiences about quality of life (QOL) and their conditionants in people with Non-syndromic Cleft Lip and Palate (NSCLP), from the experience of people living with this condition, and from their families and health personnel. Methods: A qualitative study with phenomenological perspective was conducted. Six individuals and relatives (partner, siblings, parents) were interviewed. This information was complemented by an interview with an orthodontist who works with people with NSCLP and a Focus Group with the participation of health personnel working in a Specialized Foundation focused on these individuals. Qualitative content analysis and phenomenological reduction strategies were carried out to address the main themes extracted from the discourses of the participating population. Ethical and institutional approval was obtained. Results: Four main categories of the experience of people with NSCLP were found that involve the different perspectives of the study participants: 1) concept of QOL and its conditioning factors, 2) life experience with the condition of NSCLP; 3) experience during comprehensive treatment for NSCLP condition; and 4) general expectations. All these categories reflect the life history, the individual and social elements, and the difficulties inherent to their condition. Conclusions: there are individual, social, and contextual factors that affect the QOL of people living with NSCLP. This situation implies an intersectoral and multidisciplinary approach that allows the generation of health policies and treatment strategies according to the individual and collective people's needs.

Estado nutricional y practicas alimentarias en lactantes con labio leporino y/o paladar hendido pre y post quirúrgico. Operación Sonrisa Paraguay 2020-2021

Introducción: El labio y paladar hendido (LPH) son una alteración cráneo facial de etiología multifactorial. La alimentación de los niños con LPH puede llegar a ser deficiente, comprometiendo el crecimiento y el desarrollo. Objetivo: Determinar la evolución del estado nutricional pre y post quirúrgico y las prácticas alimentarias en lactantes de 6 a 24 meses de edad, con labio y/o paladar hendido que acudieron a la Clínica de la Fundación Operación Sonrisa durante el periodo de setiembre 2020 a mayo del 2021. Materiales y métodos: Estudio observacional, prospectivo con componente analítico. Se incluyó a 50 niños con diagnóstico de LPH de 6 a 24 meses de edad. Se evaluó el estado nutricional según estándares del MSP y BS. Resultados: Fueron evaluados 50 lactantes de 6 a 24 meses, el 60 % entre 6 -11 meses, el 64 % fueron varones, el 54 % provenía del interior del país y fueron sometidos a cierre primario de labios el 86 % y el 12 % a reconstrucción de paladar hendido. El 88 % de los niños recibieron lactancia materna. El estado nutricional pre quirúrgico fue adecuado (94 %) por indicador peso para la edad. Post quirúrgico hubo una diferencia significativa de 0,927Kg para el peso para la talla (p< 0,001), lo mismo para el peso para la edad(p<0,001). Para la talla para la edad se encontró una diferencia de 0,8cm(p=ns). Conclusiones: El estado nutricional de los niños con labio o paladar hendido, mejora a los 4 meses post cirugía reconstructiva para los indicadores peso para la edad y peso para la talla.

Introduction: Cleft lip and palate (CLP) is a craniofacial alteration of multifactorial etiology. The diet of children with CLP can become deficient, compromising growth and development. Objective: To determine the evolution of the pre- and post-surgical nutritional status and feeding practices in infants between 6 and 24 months of age, with cleft lip and/or palate who attended the "Operation Smile" Foundation Clinic from September 2020 to May 2021. Materials and methods: This was an observational and prospective study with an analytical component. 50 children with a diagnosis of CLP from 6 to 24 months of age were included. Nutritional status was evaluated according to National Health Ministry standards. Results: 50 infants from 6 to 24 months were evaluated, 60% were between 6 -11 months, 64% were males, 54% came from the rural areas. 86% underwent primary lip closure and 12% cleft palate reconstruction. 88% of the children were breastfed. The pre-surgical nutritional status was adequate (94%) by weight for age indicator. Post surgery there was a significant difference of 0.927 kg for weight for height (p < 0.001), the same for weight for age (p < 0.001). For height for age, a difference of 0.8 cm was found (p=ns). Conclusions: The nutritional status of children with cleft lip or palate improves 4 months after reconstructive surgery for the indicators weight for age and weight for height.

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.

Application and accuracy assessment of a novel 3D-printed osteotomy guide in anterior maxillary segmental distraction osteogenesis / 上海交通大学学报（医学版）

Objective·To evaluate the effects of anterior maxillary segmental distraction osteogenesis(AMSDO)in treating sagittal maxillary hypoplasia in cleft lip and palate(CLP)patients and to report a 3D-printed surgical guide to facilitate the osteotomy.Methods·Twelve patients with CLP who underwent AMSDO were included in this study.Virtual osteotomy was performed in a 3-dimensional model and the osteotomy line were fabricated into a tooth-borne surgical guide by using 3D-printing technique.Lateral cephalograms taken before surgery(T0),at the end of consolidation(T1)and six months after consolidation(T2)were used to evaluate the effects of AMSDO.The accuracy of the osteotomy guide was measured by superimposing the postoperative CT data to virtual planning.Results·All the patients went through surgery without serious complications.SNA and overjet changed significantly both from T0 to T1 and from T0 to T2.ANB,facial convexity,and palatal length changed without significance from T0 to T1 and from T0 to T2.SNB remained stable.All the variables remained relatively stable from T1 to T2.The anteroposterior linear root-mean-square deviation(RMSD)between planning and actual results was 0.90 mm,while the angular RMSD in the sagittal plane was 5.07°.Conclusion·AMSDO is an effective treatment for maxillary hypoplasia secondary to CLP.The accuracy of this 3D-printed osteotomy guide is clinically acceptable,and this can simplify the surgery with fewer complications.

miR-135a-5p regulates autophagy of mouse embryonic palatal mesenchymal cells via targeting Kif3B / 中国组织工程研究

BACKGROUND:Studies demonstrated that miR-135a-5p was highly expressed in mouse embryonic palatal mesenchymal cells with cleft palate induced by dexamethasone.The primary cilium and its mediated Shh signaling pathway were involved in the autophagy of mouse embryonic palatal mesenchymal cells.It is speculated that miR-135a-5p may regulate autophagy in mouse embryonic palatal mesenchymal cells through primary cilia and its mediated Shh signaling pathway. OBJECTIVE:To investigate the regulatory effect of miR-135a-5p on autophagy of mouse embryonic palatal mesenchymal cells. METHODS:In vitro,palatal mesenchymal cells from C57BL/6J mouse embryos were extracted and cultured.Cell transfections were set up as follows:(1)the cells were divided into control group,miR-135a-5p negative control group and miR-135a-5p mimic group;(2)NC+miR-NC group,KIF3B overexpression group,and miR-135a-5p+KIF3B group:qRT-PCR was performed to verify transfection efficiency of miR-135a-5p and KIF3B.A transmission electron microscope was used to observe the number of autophagosome/autophagolysosome in the cells of each group.The degree of fluorescence expression of autophagy marker LC3B was determined by the immunofluorescence technique.The protein expression of KIF3B,LC3 and P62 was determined by western blot assay.(3)The cells were divided into miR-135a-5p negative control group,and SAG treated group,and SAG+miR-135a-5p group.qRT-PCR was used to detect the mRNA expression levels of Gli3,a key transcription factor downstream of Shh signaling.The protein expressions of autophagy-related proteins LC3 and P62 were detected by western blot assay. RESULTS AND CONCLUSION:(1)After overexpression of miR-135a-5p,the number of autophagosome/autophagolysosome was significantly increased(P<0.01).The fluorescence density of LC3B increased significantly(P<0.01);the protein expression of KIF3B and P62 decreased(P<0.01),and the protein expression of LC3 increased.(2)After overexpression of KIF3B,the number of autophagosome/autophagolysosome was significantly decreased(P<0.01);the fluorescence density of LC3B was decreased(P<0.01);the protein expression of P62 was increased(P<0.01),and the protein expression of LC3 was decreased(P<0.01).Targeted expression of KIF3B was inhibited by miR-135a-5p(P<0.01);the number of autophagosome/autophagolysosome,the fluorescence intensity of LC3B as well as the protein expression of LC3 were reversed(P<0.01)and the protein expression of P62 was decreased(P<0.01).(3)SAG significantly increased the mRNA expression of Gli3(P<0.01),increased the protein expression of P62(P<0.01),and decreased the protein expression of LC3(P<0.01).When miR-135a-5p was added,Gli3 mRNA expression was significantly decreased(P<0.01);P62 protein expression was decreased(P<0.01),and LC3 protein expression was reversed(P<0.01).(4)These results indicate that miR-135a-5p targets the inhibition of KIF3B and promotes autophagy in mouse embryonic mesenchymal cells possibly by negatively regulating the Shh signaling pathway.

Preoperative quality of life of patients with cleft lip and palate in Nigeria: a multicentre cross-sectional pilot study

Introduction: the objective of this study was to determine the quality of life (QOL) of the patient with a cleft lip or palate scheduled for surgery. Methods: this analytic multicenter cross-sectional study involved six participating Smile Train Partner Hospitals from five geopolitical zones of the country and three major ethnic groups. Patients with cleft lip or cleft palate aged between 8 to 29 years scheduled for repair were recruited. The main outcome measure was quality of life scores as measured by cleft Q. Results: thirty-four (females 18, males 16) patients were scheduled for surgery of either cleft lip n=7 (20.6%) or cleft palate n=27 (79.4). Patients scheduled for primary surgeries were more than those for secondary surgeries, 23 (68.7%) vs 10 (30.3%). Of the QOL scales, the speech distress score was the least (56.0 ± 22.6) and the psychological score highest (73.9 ± 15.8). All QOL mean scores except the psychological score fell below normative cleft Q scores. The psychological scores in males (80.9 ± 16.2) were significantly higher than in females (67.7 ± 12.9, p=0.01). Patients for lip repair had lower psychological scores than those for palatal repair (median=59 vs 73, p=0.01). Patients for palate repair demonstrated significantly lower speech function and distress scores than those for lip repair (p=0.01, p<0.01 respectively). Conclusion: most of the QOL measures in patients with cleft lip and palate in this study fell below normative values. Gender and cleft type affect the quality of life. A larger study is recommended to establish national normative data.

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.

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.

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

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.

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.

Biomechanical behavior of three maxillary expanders in cleft lip and palate: a finite element study

Abstract: This study evaluated the stress distribution in the dentoalveolar and palatal bone structures during maxillary expansion in a 17-year-old male patient with bilateral cleft lip and palate (BCLP) using expanders with dental (HYRAX) and skeletal anchorage (MARPE). For the generation of the specific finite element models, cone-beam computed tomography was used, and the DICOM files were exported to Mimics 3-Matic (Materialise) and Patran (MSC Software) software. Three specific three-dimensional models were generated: A) HYRAX: conventional four-banded hyrax screw (9 mm); B) MARPE-DS: 3 miniscrews (1.8 mm diameter - 5.4 mm length) and four-banded dental anchorage; and C) MARPE-NoDS: 3 miniscrews without dental anchorage. Maxillary expansion was simulated by activating the expanders transversely 1 mm on the "X" axis. HYRAX resulted in higher levels of deformation predominantly in the dentoalveolar region. MARPE-DS showed stress in the dentoalveolar region and mainly in the center of the palatal region, at approximately 4,000 με. MARPE-NoDS exhibited evident stress only in the palatal region. High stress levels in the root anchoring teeth were observed for HYRAX and MARPE-DS. In contrast, MARPE-NoDS cause stress on the tooth structure. The stress distribution from the expanders used in the BLCP showed asymmetric expansive behavior. During the initial activation phase of expansion, the HYRAX and MARPE-DS models produced similarly high strain at the dentoalveolar structures and upper posterior teeth displacement. The MARPE-NoDS model showed restricted strain on the palate.

History of Eugenics in Otorhinolaryngology: Ernst Rüdin and the International Eugenics Network

Abstract Introduction The early geneticist and psychiatrist Ernst Rüdin (1874-1952) became one of the key figures in the eugenics movement and in the German health system of the Nazi era. His connections in the international eugenics network have played an important role in the history of eugenics. Objective To discuss the connections between Ernst Rüdin's scientific group in Munich and Otmar von Verschuer's group in Frankfurt during the Nazi era. Methods Otorhinolaryngological materials from Ernst Rüdin's former private library are presented, and they show Rüdin's deep involvement in the international eugenics network. These materials provide insights into early medical genetics in otorhinolaryngology. Results One result of the present study is that eugenics groups from Munich, Frankfurt, and New York certainly influenced one another in the field of otorhinolaryngology. Karlheinz Idelberger and Josef Mengele were two scientists who performed hereditary research on orofacial clefts. Later, Mengele became deeply involved in Nazi medical crimes. His former work on orofacial clefts clearly had, to some extent, an influence on subsequent studies. Conclusion An international eugenics network already existed before 1933. However, it becomes clear that the weaknesses of many early genetic studies did not enable its authors to draw firm scientific conclusions, suggesting that scientists lacked an accurate concept of the genetic causes of most illnesses.

Ultrasonographic analysis of palatal donor site healing accelerated with platelet-rich fibrin following subepithelial connective tissue harvesting

Abstract Objective Platelet-rich fibrin (PRF) contains a variety of growth factors and bioactive molecules that play crucial roles in wound healing and angiogenesis. We aimed to evaluate the effects of PRF on tissue thickness and vascularization of the palatal donor site by ultrasound (USG) following subepithelial connective tissue harvesting. Methodology A subepithelial connective tissue graft was harvested from the palatal region with a single incision for root coverage in 20 systemically healthy patients. In the test group (n = 10), the PRF membrane was placed at the donor site, whereas no material was applied in the control group (n=10). Palatal tissue thickness (PTT) and pulsatility index (PI) were evaluated by USG at baseline and on the 3rd, 7th, 14th, 30th, and 90th days after surgery. The early healing index (EHI) was used to evaluate donor site healing for 30 days. Results PTT was significantly higher in the PRF group on the 3rd and 14th days after surgery when compared to the controls. In the PRF-treated group, PI levels were significantly higher than in the controls, especially on the 14th day. PTT increased significantly 90 days after surgery compared to the test group baseline, but controls showed a significant decrease. The PRF group showed statistically significant improvements in EHI scores compared to controls on days 3, 7, and 14. This study found a negative correlation between PI values and EHI scores on postoperative days three and seven in the test group. Conclusion USG is a non-invasive, objective method to radiographically evaluate the regenerative effects of PRF on palatal wound healing after soft tissue harvesting. To overcome graft inadequacy in reharvesting procedures, PRF application may enhance clinical success and reduce possible complications by increasing tissue thickness and revascularization in the donor area.

Adolescents with orofacial clefts: understanding their experiences / Adolescentes com fissura orofacial: compreendendo suas experiências

ABSTRACT Objective: To understand the experience of young people with orofacial clefts regarding life as an adolescent. Methods: Descriptive, qualitative study, developed in a Brazilian public and tertiary hospital, a reference center in the care of patients with craniofacial anomalies and related syndromes, between February and April 2019. The sample was defined by theoretical saturation. The following inclusion criteria were established: age between ten and 19 years old and having previously operated on orofacial cleft (lip and/or palate). Individuals with fissure associated with syndromes or other malformations were excluded. Data collection was performed through semi-structured interviews, which were audio recorded and transcribed in full. The trigger element was: how has it been for you to experience your adolescence? For the construction of the results, content analysis was used in the thematic modality. Results: Seventeen adolescents participated. From the speeches, three categories were revealed: interacting socially, feeling supported, and experiencing and facing prejudice. Conclusions: The biopsychosocial and conflicting complexity that adolescents with orofacial clefts experience was noticed, as well as the importance of receiving support and establishing modalities of situational coping.

RESUMO Objetivo: Compreender a experiência de jovens com fissura orofacial quanto à vivência da adolescência. Métodos: Estudo descritivo, qualitativo, desenvolvido em um hospital público e terciário brasileiro, referência no atendimento de pacientes com anomalias craniofaciais e síndromes relacionadas, entre fevereiro e abril de 2019. A amostra foi definida por saturação teórica. Estabeleceram-se como critérios de inclusão: idade compreendida entre dez e 19 anos completos e apresentação de fissura orofacial (lábio e/ou palato) previamente operada. Excluíram-se aqueles que apresentavam a fissura associada a síndromes ou outras malformações. A coleta de dados foi realizada por meio de entrevista semiestruturada, que foi gravada em áudio e transcrita na íntegra. O elemento disparador foi: como tem sido para você vivenciar sua adolescência? Para a construção dos resultados, utilizou-se a análise de conteúdo na modalidade temática. Resultados: Participaram 17 adolescentes. Com base nos discursos, desvelaram-se três categorias: interagindo socialmente; sentindo-se apoiado; e vivenciando e enfrentando o preconceito. Conclusões: Percebeu-se a complexidade biopsicossocial e conflituosa que adolescentes com fissura de orofacial vivenciam, assim como a importância de eles receberem apoio e de se estabelecerem modalidades de enfrentamento situacional.

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.