Religiosity and alcohol use in adolescents with orofacial cleft: correlational study / Religiosidade e uso de álcool em adolescentes com fissura orofacial: estudo correlacional

ABSTRACT Objective: To evaluate the correlation between religiosity and alcohol use among adolescents with orofacial clefts. Methods: Cross-sectional study, developed in a Brazilian public and tertiary hospital, between December 2021 and March 2022. Data collection was hybrid, and three instruments were used: Sociodemographic Questionnaire, Durel Religiosity Scale, and the Alcohol Use Disorders Identification Test. For statistical analysis, the following tests were used: χ2, Fisher's Exact, Mann-Whitney and Spearman's Correlation Coefficient, in addition to analyses of linear correlation strength and bivariate logistic regression. The significance level adopted for all tests was 5% (p≤0.05). Results: 370 adolescents participated, with a mean age of 15.2 years (±1.8). Among them, 23 (5.4%) used alcohol riskly or harmfully, being more frequent among male adolescents (p=0.001), those of mixed race (p=0.046), attending high school (p=0.011), with no religion (p<0.001), or who did not attend religious services (p<0.001). Levels of organizational, non-organizational and intrinsic religiosity were significantly lower among adolescents with risky or harmful alcohol use (p=0.005; p<0.001 and p=0.002, respectively). There was a moderate correlation between risky or harmful alcohol use and non-organizational (r=0.31; p=0.002) and intrinsic (r=0.36; p<0.001) religiosity. Male adolescents (p<0.001; OR=6.58), closest in age to 18 years (p<0.001; OR=1.37), and non-practitioners of religion (p<0.001; OR=6. 48) presented higher odds of risky or harmful alcohol use. Conclusions: Adolescents with higher levels of organizational and intrinsic religiosity used less alcohol, while males, closest in age to 18 years, and non-practitioners of religion presented higher odds of using alcohol riskly or harmfully.

RESUMO Objetivo: Avaliar a correlação entre a religiosidade e o uso de álcool em adolescentes com fissura orofacial. Métodos: Estudo transversal, desenvolvido em um hospital público e terciário brasileiro entre dezembro de 2021 e março de 2022. A coleta de dados foi híbrida, e foram utilizados três instrumentos: Questionário Sociodemográfico, Escala de Religiosidade de Durel e o Alcohol Use Disorders Identification Test. Para a análise estatística foram empregados os testes: qui-quadrado, exato de Fisher, Mann-Whitney e o coeficiente de correlação de Spearman, além das análises de forças de correlação linear e de regressão logística bivariada. O nível de significância adotado para todos os testes foi de 5% (p≤0,05). Resultados: Participaram 370 adolescentes, com média de idade de 15,2 anos (±1,8). Entre eles, 23 (5,4%) usavam o álcool de forma arriscada ou prejudicial. A religiosidade organizacional, não organizacional e a intrínseca foram significativamente menos frequentes entre adolescentes que utilizavam o álcool de forma arriscada ou prejudicial (p=0,005; p<0,001 e p=0,002, respectivamente). Evidenciou-se correlação moderada entre o uso arriscado ou prejudicial do álcool e a religiosidade não organizacional (r=0,31; p=0,002) e a intrínseca (r=0,36; p<0,001). Apresentaram maiores chances de usar o álcool adolescentes do sexo masculino (p<0,001; odds ratio — OR=6,58), com idade mais próxima aos 18 anos (p<0,001; OR=1,37) e que não praticavam a religião (p<0,001; OR=6,48). Conclusões: Adolescentes com maiores níveis de religiosidade organizacional e intrínseca utilizaram menos frequentemente álcool de forma arriscada ou prejudicial, enquanto ser homem, possuir idade mais próxima aos 18 anos e não praticar a religião aumentou a chance de utilizar álcool.

Smartphone-based scans of palate models of newborns with cleft lip and palate: Outlooks for three-dimensional image capturing and machine learning plate tool.

OBJECTIVES: To evaluate the performance of smartphone scanning applications (apps) in acquiring 3D meshes of cleft palate models. Secondarily, to validate a machine learning (ML) tool for computing automated presurgical plate (PSP). MATERIALS AND METHODS: We conducted a comparative analysis of two apps on 15 cleft palate models: five unilateral cleft lip and palate (UCLP), five bilateral cleft lip and palate (BCLP) and five isolated cleft palate (ICP). The scans were performed with and without a mirror to simulate intraoral acquisition. The 3D reconstructions were compared to control reconstructions acquired using a professional intraoral scanner using open-source software. RESULTS: Thirty 3D scans were acquired by each app, totalling 60 scans. The main findings were in the UCLP sample, where the KIRI scans without a mirror (0.22 ± 0.03 mm) had a good performance with a deviation from the ground truth comparable to the control group (0.14 ± 0.13 mm) (p = .653). Scaniverse scans with a mirror showed the lowest accuracy of all the samples. The ML tool was able to predict the landmarks and automatically generate the plates, except in ICP models. KIRI scans' plates showed better performance with (0.22 ± 0.06 mm) and without mirror (0.18 ± 0.05 mm), being comparable with controls (0.16 ± 0.08 mm) (p = .954 and p = .439, respectively). CONCLUSIONS: KIRI Engine performed better in scanning UCLP models without a mirror. The ML tool showed a high capability for morphology recognition and automated PSP generation.

Quality of Life of the Primary Caregivers of Children with Cleft Lip and Palate in Guanajuato, Mexico: A Cross-Sectional Study.

Comprehensive treatment is crucial for patients with a cleft lip/palate. While studies have investigated its impact on children's quality of life, few have examined the effects on primary caregivers. The aim of the study was to compare the quality of life of caregivers of children with cleft lip/palate to a control group at the National School for Higher Studies, National Autonomous University of Mexico, Guanajuato. A cross-sectional study was conducted at a teaching dental clinic of the National School of Higher Studies, National Autonomous University of Mexico, Guanajuato, México, from May to December 2021 involving 140 caregivers (70 in each group). The WHOQoL Bref instrument assessed the quality of life. In addition to the descriptive analysis, a binary logistic regression analysis was carried out, taking dichotomized reported quality of life as the dependent variable. Among the caregivers, 88.6% were female (p > 0.05), and 45 (64.8%) from the study group reported poor quality of life (p < 0.05). A multivariate analysis indicated that caring for a child with cleft lip/palate raised the likelihood of poor quality of life (p < 0.05). The findings emphasize the need for comprehensive support for both patients and caregivers, as their well-being affects patient outcomes.

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.

Sequência didática para o ensino de fendas labiopalatinas / Didactic sequence for the teaching of cleft lip and palate / Secuencia didáctica para la enseñanza de labio leporino y paladar hendido

Introdução: A fenda labial e a fissura palatina, apresentam elevada prevalência na população brasileira, sendo necessária uma formação acadêmica de cirurgiões que gere saberes que transformem a realidade. Diante do exposto, o presente manuscrito objetivou descrever o desenvolvimento, a aplicação e a avaliação de uma sequência didática sobre fissuras labiais, palatinas e labiopalatais com enfoque em aprendizagem significativa em que houve a associação de duas metodologias ativas, a construção de modelos didáticos e a sala de aula invertida. Metodologia: A sequência didática foi realizada na educação superior, com equipes de discentes de Odontologia, seguindo três etapas: planejamento; confecção do modelo didático semiplano de fissuras labiais, palatinas e labiopalatais; apresentação em roda de conversa. O desempenho dos acadêmicos foi avaliado em cada etapa. Resultados: Inicialmente, os discentes possuíam pouco conhecimento sobre o tema. Os modelos didáticos foram construídos com facilidade e durante a roda de conversa foram utilizados os modelos didáticos e compartilhados os conhecimentos sobre Embriologia, Teratologia, aspectos clínicos e tratamento odontológico para cada fenda representada, evidenciando a eficácia do método. Conclusões: As metodologias ativas adotadas utilizadas no processo de planejamento, confecção e debate sobre fissuras labiais, palatinas e labiopalatais foram ferramentas valiosas no processo ensino-aprendizagem na educação em Odontologia... (AU)

Introduction: Cleft lip and cleft palate showed prevalence in the Brazilian population, being an academic training of surgeries that generates knowledge that transforms reality. Given the above, this manuscript aimed to describe the development, application and evaluation of a didactic sequence on cleft lip, palate and lip and palate with a focus on meaningful learning with the association of two active methodologies, the construction of didactic models and the inverted classroom. Methodology: The didactic sequence was carried out in Higher Education with teams of Dentistry students following three stages: planning; making the semiplane didactic model of cleft lip, palate and lip and palate; presentation in conversation circle. Academic performance was assessed at each stage. Results: Initially, the students had little knowledge on the topic. Didactic models were easily built. During the conversation, didactic models were used and knowledge about Embryology, Teratology, clinical aspects and dental treatment was shared for each gap represented, showing the effectiveness of the method. Conclusions: The active methodologies adopted used in the process of planning, making and debating cleft lip, palate and lip and palate were valuable tools in the teaching-learning process in Dentistry Education... (AU)

Introducción: Labio leporino y paladar hendido, presentan elevada prevalencia en la población brasileña, es necesária una formación académica de los cirujanos para generar conocimientos que transformen la realidad, dado lo anterior, este manuscrito tuvo como objetivo describir el desarrollo, la aplicación y la evaluación de una secuencia didáctica sobre el lábio leporino, fisura palatina y paladar hendido con un enfoque de aprendizaje significativo en el que hubo la asociación de dos metodologias activas, la construcción de modelos didácticos y el aula invertida. Metodología: La secuencia didáctica se realizo en la enseñanza superior, con equipos de estudiantes de odontologia, siguiendo tres etapas: Planificación; realización de um modelo didáctico semiplano de lábio leporino y paladar hendido; presentación del circulo de conversación. Se evaluo el desempeño de los académicos en cada etapa. Resultados: Inicialmente, los estudiantes tenían poco conocimiento sobre el tema. Los modelos didácticos se construyeron facilmente y durante la conversación se utilizaron los modelos didácticos y se compartieron sobre Embriologia, Teratología, aspectos clínicos y tratamiento odontológico de cada fisura representada, evidenciando la efectividad del método. Conclusiones: Las metodologias activas adoptadas y utilizadas en el proceso de planificación, realización y debate sobre lábio leporino, paladar hendido y fisura palatina fueron herramientas valiosas en el proceso de enseñanza-aprendizaje en la formación odontológica... (AU)

Three-Dimensional Anthropometric Analysis of the Effect of Lip Reconstructive Surgery on Children with Cleft Lip and Palate at Three Different Times.

OBJECTIVES: This investigation aimed to assess the optimal timing for lip repair in children with cleft lip and palate via 3D anthropometric analysis to evaluate their maxillofacial structures. METHODS: The sample comprised 252 digitized dental models, divided into groups according to the following timing of lip repair: G1 (n = 50): 3 months; G2 (n = 50): 5 and 6 months; G3 (n = 26): 8 and 10 months. Models were evaluated at two-time points: T1: before lip repair; T2: at 5 years of age. Linear measurements, area, and Atack index were analyzed. RESULTS: At T1, the intergroup analysis revealed that G1 had statistically significant lower means of I-C', I-C, C-C', and the sum of the segment areas compared to G2 (p = 0.0140, p = 0.0082, p = 0.0004, p < 0.0001, respectively). In addition, there was a statistically significant difference when comparing the cleft area between G2 and G3 (p = 0.0346). At T2, the intergroup analysis revealed that G1 presented a statistically significant mean I-C' compared to G3 (p = 0.0461). In the I-CC' length analysis, G1 and G3 showed higher means when compared to G2 (p = 0.0039). The I-T' measurement was statistically higher in G1 than in G2 (p = 0.0251). In the intergroup growth rate analysis, G1 and G2 showed statistically significant differences in the I-C' measurement compared to G3 (p = 0.0003). In the analysis of the Atack index, there was a statistically significant difference between G1 and the other sample sets (p < 0.0001). CONCLUSION: Children who underwent surgery later showed better results in terms of the growth and development of the dental arches.

Maxillary arch dimensions in bilateral cleft lip and palate in the age 0-5 months.

INTRODUCTION: The complete bilateral cleft lip and palate (BCLP) divides the maxillary arch into three segments, separated from each other, resulting in abnormal growth of the alveolar arch. This study evaluated the maxillary arch dimensions in BCLP and compared them with neonates without craniofacial anomalies. METHODS: This retrospective study was conducted in a tertiary cleft centre. Sixty-six neonates aged 0-5 months were divided into two groups: cleft group-children with BCLP (23 boys and 18 girls) and control group-children without craniofacial deformities (15 boys and 10 girls). The dental models were processed by a 3D scanner. Landmarks were marked to achieve inter-canine distance, inter-tuberosity distance and arch length measurements. t-Tests were used for intergroup comparisons (p < .05). RESULTS: The maxillary cleft arch was demonstrated to be wider and longer in the posterior region compared to the control group. The inter-canine distance did not present differences between the cleft and controls. The inter-canine distance of the control group was the only measurement influenced by the variable sex. CONCLUSIONS: The cleft significantly interfered with the arch posterior width and arch sagittal length, making them larger. There was no statistical difference in the measurements between sex in the cleft group.

Research Trends in the Relationship Between Orofacial Cleft and Cancer: A Bibliometric and Network Visualization Study.

OBJECTIVE: To use the bibliographic data of publications regarding the association between orofacial cleft (OC) and cancer to examine the implications of publication growth, co-citation, co-words, and authorship networks using bibliometric indicators and network visualization. METHODS: Bibliometric study analyzed documents related to the association between OC and cancer. Data were obtained in October 2023 from the Scopus, Pubmed, Web of Science. The search strategy was developed, and data obtained were imported into R ("bibliometrix") for analysis. Results: 70 documents were found from 1977 to 2023. Most were journal articles (90.0%) designed as case-control studies (42.8%). American Journal of Epidemiology was the most relevant source. The most cited document was Frebourg T, et al. (2006). Vieira A, Martelli-Junior were the most cited author. Most authors were affiliated to Brazil (University of Montes Claros) and United States (University of Pittsburgh). Research in this thematic has included children and adults of both sexes. Research trend points to gastric cancer, leukemia and breast cancer as the most investigated cancers in association to OC. CONCLUSION: This bibliometric analysis helps fill research gaps regarding the knowledge of the relationship between OC and cancer, providing some clues for selecting future research in this topic.

Analysis of publications regarding the association between orofacial cleft and cancer highlighted: The majority of publications as journal articles (90.0%) designed as case­control studies (42.8%).American Journal of Epidemiology was the most relevant source.The most global cited documents were Frebourg T, et al. (2006).Vieira A, Martelli-Junior was the top author of the published literature and the most local cited author.Most of the authors were mainly affiliated to Universities from Brazil (University of Montes Claros) and United States (University of Pittsburgh).Motor themes of study include genetic association studies, investigating single nucleotides polymorphisms shared by OC and cancer types.Research in this thematic has included children and adults of both sexes. Research trend points to gastric cancer, leukemia and breast cancer as the most investigated cancers in association to OC.

Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.

OBJECTIVE: The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil. METHODS: This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered. RESULTS: Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581). CONCLUSIONS: Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC.

A systematic review of barriers to accessing cleft care worldwide.

PURPOSE: Patients with cleft lip/palate need an interdisciplinary approach. Delays in the care of these patients and difficulties in accessing health services have been reported in different low-, middle-, and high-income countries. This study aimed to characterize worldwide publications on access to cleft lip and palate health treatment. METHODS: Databases were selected systematically and searched until July 2021. The review process followed standard methods for systematic reviews. The study quality was evaluated using the Strengthening the Reporting of Observational studies in Epidemiology guidelines for observational studies. RESULTS: A total of 289 publications were identified using our search strategy. After reviewing the titles and reading the abstracts and full text, 16 studies met the inclusion criteria in the review. In one study, financial difficulties obtained the attention of the professionals who attended to cleft lip/palate patients. Ethnic disparities, problems in transportation, and long distances between users and health centers were found. Additionally, there was misinformation about treatment and follow-up among the caregivers of patients with cleft lip/palate. CONCLUSION: When reviewing the literature on access to health services for patients with cleft lip/palate, barriers were reported in access to information, physical access to care centers, financial resources to cover expenses for treatment, and opportunities in care.

Knockout mice with pituitary malformations help identify human cases of hypopituitarism.

BACKGROUND: Congenital hypopituitarism (CH) and its associated syndromes, septo-optic dysplasia (SOD) and holoprosencephaly (HPE), are midline defects that cause significant morbidity for affected people. Variants in 67 genes are associated with CH, but a vast majority of CH cases lack a genetic diagnosis. Whole exome and whole genome sequencing of CH patients identifies sequence variants in genes known to cause CH, and in new candidate genes, but many of these are variants of uncertain significance (VUS). METHODS: The International Mouse Phenotyping Consortium (IMPC) is an effort to establish gene function by knocking-out all genes in the mouse genome and generating corresponding phenotype data. We used mouse embryonic imaging data generated by the Deciphering Mechanisms of Developmental Disorders (DMDD) project to screen 209 embryonic lethal and sub-viable knockout mouse lines for pituitary malformations. RESULTS: Of the 209 knockout mouse lines, we identified 51 that have embryonic pituitary malformations. These genes not only represent new candidates for CH, but also reveal new molecular pathways not previously associated with pituitary organogenesis. We used this list of candidate genes to mine whole exome sequencing data of a cohort of patients with CH, and we identified variants in two unrelated cases for two genes, MORC2 and SETD5, with CH and other syndromic features. CONCLUSIONS: The screening and analysis of IMPC phenotyping data provide proof-of-principle that recessive lethal mouse mutants generated by the knockout mouse project are an excellent source of candidate genes for congenital hypopituitarism in children.

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.

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.

Predisposing risk factors for cleft lip and palate in an Amazonian population by focusing on nutritional factors: A case-control study.

BACKGROUND: Orofacial clefts (OFC) are the most common congenital malformation of the craniofacial skeleton. Attempts have been made to correlate the components of maternal diet as triggers for the development or prevention of OFC. OBJECTIVE: To analyze nutritional status as a predictive factor for the development of cleft lip and palate in an Amazonian population. METHODS: A total of 152 mothers within 3 months of delivery were interviewed for comparison: 51 mothers of children with nonsyndromic cleft lip and palate (CLP) (study group) and 101 mothers of children without OFC (control group). A food frequency questionnaire was used to assess maternal nutrition and to analyze the influence of macro- and micronutrients on the possible predisposition or protection for CLP. RESULTS: The study group showed higher percentage of lipid intake than did the control group (p = 0.01). Among the participants with no family history of OFC, the study group had a higher percentage of lipid intake (p = 0.002) and lower vegetable intake (p = 0.037). Maternal micronutrient intake among the participants with a positive family history was lower in the study group for vitamins B2 (p = 0.03), B5 (p = 0.036), E (p = 0.03), and folate (p = 0.022). CONCLUSIONS: Nutritional analysis indicated that higher maternal lipid intake increased the likelihood of having offsprings with nonsyndromic CLP. Moreover, families with a history of OFC and low maternal folate intake showed heightened risk of nonsyndromic CLP in their offsprings.

Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.

BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex subunit 1 and 2 genes (EVC, EVC2) on chromosome 4p16.2. This disease has a broad phenotype, and there are few described phenotype-genotype correlations. METHODS: Ethical Compliance: Written informed consent was obtained from the parents. Here, we report a genetically confirmed Mexican patient with EvCS having two inherited pathogenic variants in trans in EVC2: c.[1195C>T];[2161delC]. RESULTS: This patient allowed a genotypic-phenotypic comparison with another Mexican subject who presented a more attenuated phenotype; furthermore, our patient also presented cleft palate, a rarely reported feature. CONCLUSION: Our case shows the importance of comparing functional hemizygosity between patient's phenotypes when they share a variant, and our case also supports the association of alterations in the palate as part of the EvCS phenotype.

Cleft lip and palate surgery simulator: Open source simulation model.

Objective: Cleft lip and palate is the most common craniofacial birth anomaly and requires surgery in the first year of life. However, craniofacial surgery training opportunities are limited. The aim of this study was to present and evaluate an open-source cleft lip and palate hybrid (casting and three-dimensional (3D) printing) simulation model which can be replicated at low cost to facilitate the teaching and training of cleft surgery anatomy and techniques. Design: The soft tissue component of the cleft surgery training model was casted using a 3D printed 5-component mold and silicone. The bony structure was designed to simulate the facial anatomy and to hold the silicone soft tissue. Setting: Two groups, one group of trainees and one group of expert surgeons, at University Hospital Basel in Switzerland and Pontifical Catholic University of Chile in Santiago, Chile, tested the cleft lip and palate simulation model. Participants completed a Likert-based face and content validity questionnaire to assess the realism of the model and its usefulness in surgical training. Results: More than 70 % of the participants agreed that the model accurately simulated human tissues found in patients with unilateral cleft lip and palate. Over 60 % of the participants also agreed that the model realistically replicated surgical procedures. In addition, 80-90 % of the participants found the model to be a useful and appropriate tool for teaching the anatomy and surgical techniques involved in performing unilateral cleft lip and palate repair. Conclusion: This open-source protocol provides a cost-effective solution for surgeons to introduce the cleft morphology and surgical techniques to trainees on a regular basis. It addresses the current financial barrier that limits access to commercially available models during the early stages of surgeon training prior to specialization in the field.

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

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.

Potential of Viruses as Environmental Etiological Factors for Non-Syndromic Orofacial Clefts.

In this study, we analyzed the potential of viral infections in the species Homo sapiens as environmental causes of orofacial clefts (OFCs). A scoring system was adapted for qualitatively assessing the potential of viruses to cause cleft lip and/or palate (CL/P). This assessment considered factors such as information from the literature, nucleotide and amino acid similarities, and the presence of Endogenous Viral Elements (EVEs). The analysis involved various algorithm packages within Basic Local Alignment Search Tool 2.13.0 software and databases from the National Center for Biotechnology Information and the International Committee on Taxonomy of Viruses. Twenty significant viral species using different biosynthesis strategies were identified: Human coronavirus NL63, Rio Negro virus, Alphatorquevirus homin9, Brisavirus, Cosavirus B, Torque teno mini virus 4, Bocaparvovirus primate2, Human coronavirus HKU1, Monkeypox virus, Mammarenavirus machupoense, Volepox virus, Souris mammarenavirus, Gammapapillomavirus 7, Betainfluenzavirus influenzae, Lymphocytic choriomeningitis mammarenavirus, Ledantevirus kern, Gammainfluenzavirus influenzae, Betapolyomavirus hominis, Vesiculovirus perinet, and Cytomegalovirus humanbeta5. The evident viral etiological potential in relation to CL/P varies depending on the Baltimore class to which the viral species belongs. Given the multifactorial nature of CL/P, this relationship appears to be dynamic.

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.