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.

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.

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.

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.

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.

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.

Enxerto ósseo alveolar autógeno associado a biomateriais em fissura lábio palatina / Injerto óseo alveolar autógeno asociado a biomateriales en labio y paladar hendido / Autogenous alveolar bone graft associated with biomaterials in cleft lip and palate

Objetivo: Discutir a utilização do enxerto ósseo autógeno associado a biomateriais na reconstrução de defeito ósseo alveolar em paciente com fissura lábio palatina. Relato de caso: Paciente, 09 anos de idade, em tratamento no Serviço Integrado de Reabilitação de Anomalias Craniofaciais do Hospital São Marcos, Teresina - Piauí - Brasil, apresentando fissura lábio palatina unilateral, completa à esquerda, não sindrômica, submetido à queiloplastia aos 03 meses de idade, e palatoplastia aos 18 meses, resultando como sequela uma fístula oronasal, corrigida cirurgicamente quando a paciente completou 07 anos de idade. Aos 09 anos, realizou-se a cirurgia com enxerto ósseo alveolar, com osso autógeno associado a osso mineral tipo (Bio-Oss, Geistlich), protegido com membrana de colágeno (Bio-Gide, Geistlich) e membrana de Fibrina Rica em Plaqueta (PRF). Conclusão: O enxerto ósseo alveolar utilizando osso autógeno associado a osso mineral bovino, membrana de colágeno e membrana de Fibrina Rica em Plaquetas (PRF) assim como a intervenção cirúrgica na faixa etária citada na literatura mostraram-se eficientes para se atingir o sucesso terapêutico... (AU)

Objetivo: Discutir el uso de injerto óseo autógeno asociado a biomateriales en la reconstrucción del defecto óseo alveolar en un paciente con labio y paladar hendido. Reporte de caso: Paciente de 09 años de edad, en tratamiento en el Servicio Integrado de Rehabilitación de Anomalías Craneofaciales del Hospital São Marcos, Teresina - Piauí - Brasil, presentando labio y paladar hendido unilateral, completo a la izquierda, no sindrómico, sometido a queiloplastia a los 03 meses de edad, y palatoplastia a los 18 meses, resultando como secuela una fístula oronasal, corregida quirúrgicamente cuando el paciente completó 07 años de edad. A los 09 años de edad, se realizó una intervención quirúrgica con injerto óseo alveolar, con hueso autógeno asociado de tipo mineral (Bio-Oss, Geistlich), protegido con membrana de colágeno (Bio-Gide, Geistlich) y Membrana de Fibrina Rica en Plaquetas (PRF). Conclusión: El injerto óseo alveolar utilizando hueso autógeno asociado a hueso mineral bovino, membrana de colágeno y Membrana de Fibrina Rica en Plaquetas (PRF), así como la intervención quirúrgica en el rango de edad citado en la literatura, se mostraron eficientes para lograr el éxito terapéutico... (AU)

Objective: To discuss the use of autogenous bone graft associated with biomaterials in the reconstruction of alveolar bone defect in a patient with cleft lip and palate. Case Report: Patient, 09 years old, under treatment at the Integrated Service for Rehabilitation of Craniofacial Anomalies of the Hospital São Marcos, Teresina - Piauí - Brazil, presenting unilateral cleft lip and palate, complete to the left, not syndromic, underwent cheiloplasty at 03 months of age, and palatoplasty at 18 months, resulting as a sequela an oronasal fistula, surgically corrected when the patient turned 07 years old. At 09 years of age, surgery was performed with alveolar bone grafting, with autogenous bone associated with mineral bone type (Bio-Oss, Geistlich), protected with collagen membrane (Bio-Gide, Geistlich) and Platelet Rich Fibrin (PRF) membrane. Conclusion: Alveolar bone grafting using autogenous bone associated with bovine mineral bone, collagen membrane and Platelet Rich Fibrin Membrane (PRF) as well as surgical intervention in the age range cited in the literature were shown to be efficient in achieving therapeutic success... (AU)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Caracterización de pacientes con fisura labiopalatina / Characterization of Patients with Cleft Lip and Palate

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

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