Higher maternal age is associated with higher occurrence of cleft lip/palate in neonates under intensive care

Aim: To assess the prevalence of cleft lip and/or cleft palate (CL/P) and associated variables in neonates admitted to neonatal intensive care units (ICU). Methods: Medical charts for neonates born and admitted to the ICU between 2012 and 2018 were reviewed. Obstetric and neonatal variables were collected by a trained researcher. In the case group, all neonates with CL/P were included. The control group was formed by matching sex, prematurity and month of birth using random number generation. Neonates with congenital malformations were excluded from the control group. Adjusted logistic regression was used (p<0.05). Results: The prevalence of CL/P was 0.43% (n=15). Five cases were excluded, as pairing was not possible. Twenty neonates were included in the control group. In the final multivariate model, CL/P was only associated with increased maternal age. For each year of increase in maternal age, neonates had a 35.2% higher chance of presenting CL/P (95% confidence interval: 1.021­1.792). Conclusions: Higher maternal age was associated with higher occurrence of CL/P in neonates admitted to the ICU. No other neonatal or maternal independent variables were associated with CL/P. Due to missing data, interpretation of study results must be approached with caution

Fisura labio palatina: revisión de la literatura / Cleft lip and palate: literature review

La formación del paladar ocurre entre la quinta y undécima semana de vida intrauterina producto de la unión del paladar primario y secundario. Por otra parte, la formación del labio superior ocurre entre la quinta y sexta semana del desarrollo, y se configura en su parte media por la fusión de los procesos nasales mediales y lateralmente, a expensas de los procesos maxilares. La prevalencia de las fisuras labiales y/o fisura palatina varía según las distintas etnias, con cifras entre 0,7 hasta 1,1 casos por 1000 nacidos vivos. El objetivo de este trabajo fue realizar una revisión bibliográfica sobre aspectos epidemiológicos, mecanismos genéticos moleculares y ambientales que influyen en la ocurrencia de la fisura labial, fisura palatina y fisura labio palatina. La búsqueda bibliográfica se realizó en las bases de datos PUBMED, SCOPUS, SPRINGER, SCIENCEDIRECT utilizando los términos en inglés "cleft lip and palate", "cleft lip", "cleft palate" y "embriology". Entre los criterios de inclusión se consideraron estudios realizados en humanos y animales, publicados entre los años 2015 y 2021. La búsqueda arrojó un total de 407 trabajos, de los cuales tras un filtro por título y resumen quedaron un total de 38 artículos, en los cuales se realizó un análisis de texto completo para finalmente seleccionar 26 artículos que abarcan temas genéticos-moleculares, ambientales, epidemiológicos y sindrómicos. Además se incorporaron por búsqueda manual, 6 documentos asociados a libros de texto, y artículos científicos, sin considerar el criterio inclusión de tiempo. Dentro de esta revisión se describe la fuerte asociación entre las fisuras orales y las mutaciones de genes Msx1, sonic hedgehog, proteínas morfogenéticas óseas y factor de crecimiento fibroblástico durante la migración de las células de la cresta neural y la modelación y formación del paladar. La ausencia de ácido fólico durante el desarrollo del paladar y la presencia de hipoxia por exposición a humo, son los factores ambientales observados con mayor frecuencia en malformaciones orofaciales.

SUMMARY: Palate formation occurs between the fifth and eleventh week of intrauterine life as a result of the union of the primary and secondary palate. On the other hand, the formation of the upper lip occurs between the fifth and sixth week of development, and is configured in its middle part by the fusion of the medial and lateral nasal processes, at the expense of the maxillary processes. The prevalence of cleft lips and / or cleft palate varies according to the different ethnic groups, with figures ranging from 0.7 to 1.1 cases per 1000 live births. The aim of this work was to carry out a literature review on epidemiological aspects, molecular and environmental genetic mechanisms that influence the occurrence of cleft lip, cleft palate and its embriology. The literature search was carried out in the databases PUBMED, SCOPUS, SPRINGER, SCIENCEDIRECT using the English terms "cleft lip and palate", "cleft lip", "cleft palate" and "embryology". Inclusion criteria included studies carried out in humans and animals, published between 2015 and 2021. The search yielded a total of 407 works, of which after a filter by title and abstract, a total of 38 articles remained, in which a text analysis was carried out complete to finally select 26 articles that cover genetic-molecular, environmental, epidemiological and syndromic topics. In addition, 6 documents associated with textbooks and scientific articles were incorporated by manual search, without considering the inclusion criterion of time. This review describes the strong association between oral fissures and mutations of genes Msx1, sonic hedgehog, bone morphogenetic proteins and fibroblast growth factor during migration of neural crest cells and palate shaping and formation. Lack of folic acid during palae development dar and the presence of hypoxia due to exposure to smoke, are the environmental factors most frequently observed in orofacial malformations.

Prevalence of cleft lip and palate and associated factors in Brazil's Midwest: a single-center study

Abstract: The aim of this study was to evaluate the prevalence of cleft lip and/or palate (CL/P) and associated factors in patients treated at a referral service in Brazil's Midwest. Data were obtained from medical records on file between 2010 and 2017 for this epidemiologic and associational study. A descriptive analysis of the sociodemographic and clinical data was carried out, after which the data were analyzed using the chi-square test and Poisson regression with robust variance. A total of 1,696 medical records were eligible. The requests for rehabilitation were mainly for children in the early years of life, and were mostly for patients from low-income families in the state of Goiás. CL/P was more prevalent in its most severe morphological representation (cleft lip and palate), and the most frequently affected side was the left. Syndromic cleft was present in 4.1% of the cases, and the Pierre Robin sequence and Apert syndrome appeared more frequently. Adjusted multivariate Poisson regression showed an association between cleft palate and the presence of syndromes, since the prevalence was 2.33 times higher in this case than that of no syndrome. Cleft lip and palate were associated with males, whereas cleft palate was associated with females. This study highlights the importance of collecting and analyzing epidemiological data, managing health service planning, and allocating funds to assist cleft patients.

Lactancia materna y factores asociados a la alimentación en bebés con fisura de paladar / Breastfeeding and factors associated to feeding in babies with cleft palate

Breastfeeding can be affected in babies with cleft palate, due to various factors associated with feeding. The objective of the study was to relate the time of breastfeeding and the time to express breast milk with factors associated with feeding in babies between 0 and 6 months with cleft palate. Electronic records of care of 36 babies with cleft palate from a public hospital in Chile were reviewed. Sociodemographic characteristics of the mother and father, perinatal and postnatal antecedents of the babies and general characteristics of feeding up to 6 months were extracted. The data were compared with the Mann-Whitney U test and relationships were established with the Pearson and Spearman correlations. In the time of direct breastfeeding (days), significant differences were observed in: the babies who used a nasogastric tube (p = 0.009), the indication to express breast milk (p = 0.017), the presence of manual extraction of breast milk (p = 0.005) and the presence of electrical extraction of breast milk (p = 0.002). In addition, a positive correlation (p = <.001; r = 0.538) was recorded between the time of direct breastfeeding and the time of expressed breast milk. It is concluded that the longer the breastfeeding time, the longer the breast milk extraction time. Meanwhile, the time of breastfeeding was influenced by the use of a nasogastric tube, the expression of breast milk as a personal option, and the manual and electrical expression of breast milk.

La lactancia materna puede afectarse en bebés con fisura de paladar, debido a diversos factores asociados a la alimentación. El objetivo del estudio fue relacionar el tiempo de lactancia materna y el tiempo de extracción de leche materna con factores asociados a la alimentación en bebés de entre 0 y 6 meses portadores de fisura de paladar. Se revisaron registros electrónicos de atenciones de 36 bebés portadores de fisura de paladar de un hospital público de Chile. Fueron extraídas características sociodemográficas de la madre y padre, antecedentes perinatales y postnatales de los bebés y características generales de la alimentación hasta los 6 meses. Se compararon los datos con el Test de la U de Mann-Whitney y se establecieron relaciones con las correlaciones de Pearson y Spearman. En el tiempo de lactancia materna directa (días) se observaron diferencias significativas en: los bebés que utilizaron sonda nasogástrica (p = 0.009), la indicación de extracción de leche materna (p = 0.017), la presencia de extracción manual de leche materna (p = 0.005) y la presencia de extracción eléctrica de leche materna (p = 0.002). Además, se registró una correlación positiva (p = < .001; r = 0.538) entre el tiempo de lactancia materna directa y el tiempo de leche materna extraída. Se concluye que a mayor tiempo de lactancia materna existe un mayor tiempo de extracción de leche materna. En tanto, el tiempo de lactancia materna fue influenciado por el uso de sonda nasogástrica, la extracción de leche materna como opción personal y la extracción de leche materna de manera manual y eléctrica.

Factors associated with the presence of cleft lip and / or cleft palate in Brazilian newborns / Fatores associados à presença de fissura labial e/ou fenda palatina em recém-nascidos brasileiros

Abstract Objectives: to analyze the trend and the associated factors with the presence of cleft lip and/or cleft palate in Brazilian newborns, in order to verify possible associations with maternal care and newborn factors. Methods: a cross-sectional and ecological study, involving all live births in Brazil, recorded in the Information System on Live Births from 2005 to 2016. Maternal and infant information were evaluated using trend analysis and odds ratio, with a 95% confidence interval. The analyses were performed using SPSS software. Results: we analyzed 17,800 live births with presence of cleft lip and/or cleft palate. The Brazilian prevalence rate was 0.51 / 1000 live births, with South and Southeast Regions registering higher rates than the national rate. There was an association with maternal age above 35 years old, with no partner, less than seven prenatal consultations, premature birth and cesarean section. About the factors of the newborn, being male, Apgar less than seven in the 1st and 5th minutes of life, low birth weight and white color were associated. Conclusions: Brazil has an increasing tendency for cleft lip and/or cleft palate (p=0.019), reinforcing the need to strengthen health care networks, providing adequate support for newborn with cleft lip and/or cleft palate and their families.

Resumo Objetivos: analisar a tendência e os fatores associados à presença de fissura labial e/ou fenda palatina em recém-nascidos brasileiros, a fim de verificar possíveis associações da mesma com fatores maternos, assistenciais e do recém-nascido. Métodos: estudo transversal, ecológico, envolvendo todos os nascimentos vivos do Brasil, registrados no Sistema de Informação sobre Nascidos Vivos de 2005 a 2016. Foram avaliadas informações maternas e infantis, utilizando-se análise de tendência e razão de chances, com intervalo de confiança de 95%. As análises foram realizadas através do software SPSS. Resultados: foram analisados 17.800 nascidos vivos com presença de fissura labial e/ou fenda palatina. A taxa de prevalência brasileira foi de 0,51/1000 nascidos vivos, sendo que as Regiões Sul e Sudeste registraram taxas maiores do que a nacional. Houve associação com idade materna superior a 35 anos, sem companheiro, menos de sete consultas de pré-natal, nascimento prematuro e cesariana. Sobre os fatores do recém-nascido, o sexo masculino, Apgar menor que sete no 1º e 5º minutos de vida, baixo peso ao nascer e raça/cor branca apresentaram associação. Conclusões: o Brasil apresenta tendência crescente das taxas de fissura labial e/ou fenda palatina (p=0,019), reforçando a necessidade de fortalecimento das redes de atenção à saúde, prevendo o amparo adequado aos bebês com fissura labial e/ou fenda palatina e suas famílias.

Perfil clínico-epidemiológico das fissuras orofaciais em um centro de referência do nordeste do Brasil / Clinical-epidemiological profile of orofacial fissures in a reference center from northeast Brazil / Perfil clinico-epidemiológico de las fisuras orofaciales en un centro de referencia en el noreste de Brasil

RESUMO Objetivo Descrever o perfil clínico-epidemiológico dos portadores de fissuras orofaciais, atendidos em um Centro de Referência do Nordeste do Brasil. Métodos Estudo descritivo, baseado em dados secundários de prontuários médicos. Informações sociodemográficas do portador e da mãe, uso de medicamentos durante a gestação, aspectos clínicos e cirúrgicos relacionados às fissuras, histórico familiar da malformação e consanguinidade dos pais foram investigadas. Os dados foram analisados descritivamente, com o uso do programa estatístico SPSS (Statistical Package for te Social Sciences), no qual foram obtidas medidas de frequência, média e desvio padrão. Resultados 51,1% dos portadores de fissuras orofaciais eram do sexo feminino, 46,2% menores de um ano e 54,4% eram procedentes na zona urbana. A maioria das mães encontrava-se na faixa etária entre 16 a 25 anos durante o período gestacional e relatou uso de medicação em 59,2% dos casos. A fissura transforame incisivo foi a mais diagnosticada (34,4%). No momento de cadastro ao Centro de Reabilitação de Anomalias Craniofaciais, 90,5% dos indivíduos ainda não haviam realizado tratamento cirúrgico. História familiar de fissura foi observada em 29,8% dos casos estudados e em apenas 7,1% desses foi reportado consanguinidade entre os pais. Conclusão Os fatores socioeconômicos e genéticos podem exercer influência sobre o desenvolvimento de fissuras orofaciais, o que exige uma maior atenção governamental assim como novos estudos para melhor investigação.(AU)

ABSTRACT Objective To describe the clinical-epidemiological profile of patients with orofacial fissures treated at a reference center from northeast Brazil. Materials and Methods Descriptive study, based on secondary data obtained from medical records. Sociodemographic information of patients and their mothers, use of medication during pregnancy, clinical and surgical aspects related to fissures, family history of malformation, and consanguinity among the parents were investigated. Data were analyzed descriptively using the SPSS (Statistical Package for Social Sciences) statistical program to obtain frequency, mean and standard deviation measures. Results 51.1% of the patients with orofacial fissures were female, 46.2% were under one year of age and 54.4% lived in urban areas. The majority of mothers were between the ages of 16 and 25 during the gestational period, and 59.2% reported the use of medication. Cleft lip and palate were the most prevalent types of fissures (34.4%). On admission to the Craniofacial Anomaly Rehabilitation Center, 90.5% of the individuals had not yet undergone surgical treatment. Family history of fissure was found in 29.8% of the cases studied, but inbreeding among parents was reported in only 7.1% of them. Conclusion Socioeconomic and genetic factors can influence the development of orofacial fissures; this requires greater governmental attention as well as new studies for better investigation.(AU)

RESUMEN Objetivo Describir el perfil clínico-epidemiológico de los portadores de fisuras orofaciales, atendidos en un Centro de Referencia del Nordeste de Brasil. Métodos Estudio descriptivo, basado en datos secundarios de pronóstico médicos. La información sociodemográfica del portador y de la madre, uso de medicamentos durante la gestación, aspectos clínicos y quirúrgicos relacionados con las fisuras, historia familiar de la malformación y consanguinidad de los padres fueron investigadas. Los datos fueron analizados descriptivamente, con el uso del programa estadístico SPSS (Statistical Package for te Social Sciences), en el cual se obtuvieron medidas de frecuencia, media y desviación estándar. Resultados 51,1% de los portadores de fisuras orofaciales eran del sexo femenino, 46,2% menores de un año y 54,4% eran procedentes en la zona urbana. La mayoría de las madres se encontraban en el grupo de edad entre 16 a 25 años durante el período gestacional y relató uso de medicación en el 59,2% de los casos. La fisura transforam incisiva fue la más diagnosticada (34,4%). En el momento de la inscripción en el Centro de Rehabilitación de Anomalías Craneofaciales, el 90.5% de los individuos aún no se habían sometido a tratamiento quirúrgico. La historia familiar de fisura fue observada en el 29,8% de los casos estudiados y en apenas el 7,1% de esos fue reportado consanguinidad entre los padres. Conclusión Los factores socioeconómicos y genéticos pueden influir en el desarrollo de fisuras orofaciales, lo que exige una mayor atención gubernamental así como nuevos estudios para una mejor investigación.

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population / Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population

Abstract Introduction: Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. Objective: In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. Methods: We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS® version 19.0, by applying Chi-Square tests. Values with p < 0.05 were considered statistically significant. Results: Of the 1206 children included in this study, 608 (50.40%) were female and 598 (49.60%) were male (p = 0.773). The average age of children was 3.75 years (standard deviation ± 3.78 years). Of the 1206 children studied, 6 (0.5%) presented with bifid uvula. Submucosal cleft palate was not found in any child. When the family histories of children were examined for the presence of nonsyndromic cleft lip and/or cleft palate, no first degree relatives presented with the congenital anomaly. Conclusion: This study revealed that the incidence of bifid uvula and submucous cleft palate in this population was quite similar to previously reported incidence rates. Our study suggests an intensification of new reviews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts.

Resumo: Introdução: A úvula bífida é uma anomalia frequentemente observada na população em geral e pode ser considerada como um marcador de fissura palatina submucosa. Objetivo: Determinar a frequência de úvula bífida e fissura palatina submucosa e sua relação com fissura orais em uma população brasileira. Método: Realizamos um estudo transversal, descritivo e quantitativo de 1.206 crianças entre agosto de 2014 e dezembro de 2015. O exame clínico das crianças foi realizado por meio da inspeção da cavidade oral com auxílio de um abaixador de língua e luz direcionada. Após o exame clínico nas crianças, os pais responderam a um questionário com perguntas sobre informações demográficas básicas e antecedentes de fendas orais em familiares de primeiro grau. As informações coletadas foram arquivadas em um banco de dados e analisadas pelo programa estatístico SPSS® versão 19.0, aplicando testes de Qui-Quadrado. Os valores com p < 0,05 foram considerados estatisticamente significativos. Resultados: Das 1.206 crianças incluídas neste estudo, 608 (50,40%) eram do gênero feminino e 598 (49,60%) do masculino (p = 0,773). A idade média das crianças foi de 3,75 anos (desvio-padrão ± 3,78 anos). Das 1.206 crianças estudadas, seis (0,5%) apresentavam úvula bífida. A fissura palatina submucosa não foi encontrada em nenhuma criança. Quando as histórias familiares de crianças foram examinadas quanto à presença de fissura de lábio e/ou palato não sindrômica, nenhum parente de primeiro grau apresentava esta anomalia congênita. Conclusão: Este estudo revelou que a incidência de úvula bífida e fissura palatina submucosa nesta população é bastante semelhante às taxas de incidência previamente relatadas. Nosso estudo sugere uma intensificação de novas revisões, com populações mais amplas e diversas, buscando associar a ocorrência de úvula bífida, fissura palatina submucosa e fissura orais.

Impacto del Ácido Fólico en la Incidencia de Fisuras Labiopalatinas de la Población Occidente de la Región Metropolitana, Chile / Impact of Folic Acid on the Incidence of Cleft Lip and Palate of the Western Population of the Metropolitan Region, Chile

RESUMEN: La fisura labiopalatina ha tenido una alta frecuencia en la población chilena. A partir del 2000 se inició el programa de fortificación de la harina con ácido fólico a fin de disminuir los defectos del tubo neural. El objetivo de este estudio fue determinar el impacto que presenta la incorporación del ácido fólico en la incidencia de fisuras labiopalatinas de la población del área occidente de la Región Metropolitana. Se recopiló información a partir de las fichas clínicas de la Fundación Gantz seleccionando a los recién nacidos entre 1990 y 2009, correspondientes a las comunas del Servicio de Salud Occidente de la Región Metropolitana. Desde el 2000 hasta el 2004 se observó una disminución importante en las tasas de fisura labiopalatina, con una tasa de 0,88 fisurados por 1000 recién nacidos vivos. Posteriormente se observó un incremento a partir del 2005 hasta el 2009 llegando a una tasa de 1,52 fisurados por 1000 recién nacidos vivos. En conclusión, el efecto protector del ácido fólico se evidencia en la disminución de las tasas de los recién nacidos con fisuras durante los primeros años de su implementación. Sin embargo, posteriormente se observó un aumento de dichas tasas, lo cual podría deberse al incumplimiento de la norma.

ABSTRACT: Cleft lip and palate has had a high frequency in the Chilean population. From the year 2000 a flour fortification program with folic acid was initiated in order to reduce the defects of the neural tube. The objective of this study was to determine the impact of the incorporation of folic acid in the incidence of cleft lip and palate of the population of the western area of the Metropolitan Region. Information was collected from clinical records of the Gantz Foundation, selecting newborns from 1990 to 2009, corresponding to the districts of the western sector of the Metropolitan Region. From 2000 to 2004 there was a significant decrease in cleft lip and palate rates, with a rate of 0.88 cases per 1000 live births. Subsequently, an increase was observed from 2005 to 2009, reaching a rate of 1.52 cases per 1000 live births. In conclusion, the protective effect of folic acid is evidenced in the reduction of the rates of newborns with cleft palate during the first years of its implementation. However, an increase in these rates was subsequently observed, which could be due to noncompliance with the standard.

Risk factors and comorbidities in Brazilian patients with orofacial clefts

Abstract: Considering that environmental risk factors substantially contribute to the etiology of orofacial clefts and that knowledge about the characteristics and comorbidities associated with oral clefts is fundamental to promoting better quality of life, this study aimed to describe the risk factors, main characteristics, and comorbidities of a group of patients with cleft lip and/or cleft palate (CL/P) from Rio Grande do Norte (RN), Brazil. Data were obtained from 173 patients with CL/P using a form from the Brazilian database on Orofacial Clefts. Most patients were male with cleft lip and palate and had a normal size and weight at birth; presented few neonatal intercurrent events; and had anemia and respiratory and cardiovascular diseases as main associated comorbidities. They also required timely surgical rehabilitation and multidisciplinary care to stimulate their neuropsychomotor development. In addition, a high frequency of familial recurrence and of parental consanguinity was evidenced in the studied population, especially for the cleft lip and cleft palate type. Other relevant findings were the considerable maternal exposure to alcohol, infections, smoking, and hypertension, as well as low supplementation with vitamins and minerals and deliberate consumption of analgesics, antibiotics, and antihypertensives during pregnancy. Characterization of the CL/P patient profile is essential for the planning of health services and integration among the health professionals involved in the diagnosis and treatment of these malformations. Our results reinforce the need for additional research to confirm the association between environmental factors and the development of orofacial clefts.

Perfil epidemiológico dos pacientes portadores de fissuras labiopalatinas atendidos por equipe cirúrgica de referência no Estado do Amazonas / Epidemiological profile of patients with orofacial cleft treated by a reference surgical team in the State of Amazonas, Brazil

Introdução: As fissuras labiopalatinas são malformações congênitas e, no Brasil, estima-se a ocorrência de 1:650 nascimentos. A classificação adotada é a de Spina. A queiloplastia e a palatoplastia são as principais cirurgias executadas. Métodos: Estudo retrospectivo descritivo com obtenção de dados a partir do sistema Smile Train Express referente a pacientes com fissura labiopalatina atendidos por equipe cirúrgica de referência entre 1 de março de 2014 e 1 de dezembro de 2016. Resultados: Foram identificados 477 pacientes, predominando o sexo masculino e os dois primeiros anos de vida na admissão. A fissura mais prevalente foi transforame e unilateral esquerda. O tratamento cirúrgico mais frequente foi a queiloplastia. Conclusões: O padrão epidemiológico está em consonância com a literatura nacional.

Introduction: Orofacial clefts are congenital malformations with an estimated occurrence of 1:650 births in Brazil. The most widely adopted classification system in that country is the method developed by Spina, and cheiloplasty and palatoplasty are the main surgeries performed. Methods: This was a retrospective descriptive study using data collected from the Smile Train Express organization regarding patients with orofacial clefts treated by a reference surgical team between March 1, 2014 and December 1, 2016. Results: A total of 477 patients were identified, predominantly male and in the first two years of life at admission. The most prevalent type of malformation was left unilateral transforamen cleft. The most frequent surgical treatment was cheiloplasty. Conclusions: The epidemiological pattern is consistent with the findings described in the national literature.

Estudio clínico-epidemiológico en niños con labio paladar hendido en un hospital de segundo nivel / Clinical-epidemiological study in children with cleft lip palate in a secondary-level hospital

Resumen: Introducción: El padecimiento de labio paladar hendido es una de las alteraciones congénitas más comunes que afecta las estructuras de la cara. El objetivo de este trabajo fue generar el perfil epidemiológico y clínico de la población con LPH atendida en el Hospital de Especialidades del Niño y la Mujer Dr. Felipe Núñez Lara de la Secretaría de Salud del estado de Querétaro, México, en el periodo de 2011-2014, a través de la Clínica de Labio Paladar Hendido, para brindar tratamientos interdisciplinarios a los pacientes con esta afección con base en la información de los expedientes registrados en el periodo mencionado. Métodos: Estudio observacional, transversal, retrospectivo usando análisis univariado con frecuencias para variables cualitativas, y estadísticas centrales y de dispersión para variables cuantitativas y perfil clínico. Se revisaron 100 expedientes; se descartaron 15 por tratarse de casos sindrómicos. Las variables estudiadas fueron sociodemográficas, epidemiológicas y clínicas. Resultados: Se presentan los perfiles epidemiológicos (variables relativas al embarazo de la madre y salud del paciente al momento de su nacimiento, desarrollo nutricional y psicomotor; antecedentes heredo-familiares y presencia de adicciones; datos socioeconómicos familiares) y clínicos (clasificación del padecimiento por sexo, estructura y lado de afectación; clasificación de las cirugías y orden en que se efectuó el procedimiento) de la población considerada. Conclusiones: Los resultados del estudio mostraron la necesidad de estandarizar el registro de datos en expedientes para mejorar el seguimiento y tratamiento de los pacientes y enfatizar en acciones preventivas que permitan mantener la baja incidencia del labio paladar hendido en Querétaro.

Abstract: Background: One of the most common congenital disorders that affects the facial structures is the cleft lip palate (CLP). The aim of this study was to generate the clinical-epidemiological profile of CLP patients from Hospital de Especialidades del Niño y la Mujer (HENM) Dr. Felipe Nuñez Lara, from the Ministry of Health, Queretaro, Mexico, from 2011 to 2014, who received treatment from the Cleft Lip Palate Clinic in order to provide interdisciplinary treatments for CLP patients based on the information from the pediatric records. Methods: Retrospective, cross-sectional, observational study using univariate analysis frequencies for qualitative variables; central statistical and dispersion for quantitative variables and clinical profile. One hundred records were reviewed, from which 15 were discarded for being syndromic cases. Epidemiological, clinical, and socio-demographic variables were studied. Results: The epidemiological profile (variables associated with mother's pregnancy, patient's health at birth, nutritional and psychomotor development; family medical records, addictions, and socioeconomic factors) and clinical profile (disease classification by sex, structure, and side; surgeries classification and order in which they took place) of the treated population were registered. Conclusions: The results showed the need to standardize the data registration on medical records to improve the monitoring and treatment of patients and emphasize actions to maintain low incidence of CLP in Queretaro.

Orofacial clefts in Brazil and surgical rehabilitation under the Brazilian National Health System

Abstract The objective of this study was to investigate the prevalence of live births with orofacial clefts in Brazil from 2009 to 2013, according to Brazil’s federative units and regions, and correlate it with the number of corrective surgery procedures for cleft lip and palate performed through the Brazilian National Health System in the same period. The data were collected from the National Live Birth System (SINASC in Portuguese) and the Hospital Information System (SIH-SUS in Portuguese). The results showed that the average prevalence of oral clefts in the period was 5.86 per 10,000 live births, with differences observed between the federative units and the regions. The correlation between the prevalence of orofacial clefts and the number of medical procedures associated with this anomaly was statistically significant (r=0.94; p <0.001). This result indicates that greater investments are being made in areas with a higher number of cases. The relationship between supply and demand for corrective surgeries suggests that only 18.91% of the live births with orofacial clefts in this period may have received this service under the Brazilian National Health System.

Maternal risk factors associated with cleft lip with or without cleft palate: a review / Factores de riesgo materno asociados con el labio fisurado con o sin paladar hendido: una revisión

Disruptions in the development of the nasal and oral structures lead to cleft palate and cleft lip. There are many different factors that can affect this development such as genetic, mechanical traumas or teratogeny. The oral clefts are one of the most common birth defects worldwide affecting approximately 1 in 700 to 1000 children. The development of oral clefts is multifactorial and affect a significant portion of the population. The study results showed that smoking is the risk factor most associated with oral clefts (OR 1.09 to 2.11) and the least associated is the ingestion of folic acid (OR 0.59). Many of the risk factors discussed in this article will show an increase in the development of oral clefts although, some of the data could not be effectively compared due to differences in the methodology of each study and the subjective measures used.

Las interrupciones en el desarrollo de las estructuras nasales y orales conducen al paladar hendido y labio leporino. Hay muchos factores diferentes que pueden afectar este desarrollo, tal como los traumas o teratogenia mecánica genética. Las hendiduras orales son uno de los defectos de nacimiento más comunes en todo el mundo y afectan aproximadamente a 1 de cada 700 a 1000 niños. El desarrollo de fisuras orales es multifactorial y afecta a una parte significativa de la población. Los resultados del estudio mostraron que el tabaquismo es el factor de riesgo que más se asocia con fisuras orales (OR 01,09 a 02,11) y el menos asociado es la ingestión de ácido fólico (OR 0,59). Muchos de los factores de riesgo descritos en este artículo demuestran un aumento en el desarrollo de fisuras orales. No obstante, algunos de los datos no pudieron ser comparados con eficacia debido a las diferencias en la metodología de cada estudio y las medidas subjetivas utilizadas.

Fisuras labio-palatinas y fortificación de la harina con ácido fólico en Chile: an exploratory study / Cleft lip/palate and flour fortification with folic acid in Chile

Background: The effect of food fortification with folic acid on the incidence of lip-palate fissures (FLP) is under discussion. Aim: To calculate the rate of hospital discharges due to cleft lip and palate (CLP) and explore whether they decreased after the start of folic acid fortification in Chile. Material and Methods: The hospital discharge databases published by the Chilean Ministry of Health were analyzed. The trends of discharge rates due to CLP of children of less than one year of life (ICD-10 Q350-379 code) and live births (lb) were calculated from 1986 to 2012. Variables such as incidence of rubella, poverty rate, obesity in pregnant women, and percentage of women who smoked or drank alcohol in the last month were included. The relative risk (RR) of CLP pre-fortification (1986-1999) and post-fortification (2000-2010) was calculated. Mixed and Prais-Winsten models were used to adjust other variables. Results: The hospital discharge rate due to CLP decreased from 1.88 x 1,000 lb during 1986-1996 to 1.68 x 1,000 lb (RR = 1.09 (95% CI 1.05-1.14, p < 0.001). Prais-Winsten and Mixed models, determined that folic acid fortification is the variable explaining this decrease. During 2004-2011, hospital discharge rates for cleft lip decreased but there was an increase in the figures for cleft lip and palate. Conclusions: The 9% decrease in hospital discharge rates for CLP is concomitant with wheat folic acid fortification.

Parental age is related to the occurrence of cleft lip and palate in Brazilian populations

Aim: To evaluate the association of environmental risk factors, particularly paternal and maternal age, with gender and type of oral cleft in newborn with nonsyndromic cleft lip with or without cleft palate (NSCL/P). Methods: This study included 1,346 children with NSCL/P of two Brazilian Services for treatment of craniofacial deformities. Parental ages were classified into the following groups: maternal age <35, 36-39, and ≥40 years; paternal age <39 and ≥40 years. The data was analyzed with chi-square test and multinomial logistic regression analysis. The odds ratios were estimated with a 95% confidence interval. Results: Of the 1,346 children included in this study, CLP was the type of NSCL/P with highest prevalence, followed by, respectively, CL and CP. There was a greater occurrence of NSCL/P in males compared to females (55.8% versus 44.2%). CLP was more common in men, while the CL and CP were more prevalent in women (p=0.000). No association between maternal age and clefts was observed (p=0.747). However, there was evidence of association between father's aged ≥40 years old and NSCL/P (p=0.031). When patients with CP were analyzed separately, no association between the father's age and the child's gender (p=0.728) was observed, i.e. the female gender prevails among patients with CP, regardless of the father's age. Conclusions: This study showed that there were differences in the distribution of the non-syndromic cleft lip and/or palate and the gender, and fathers aged ≥40 years old may have increased risk of oral cleft. Further studies involving different populations are needed for a better understanding of the effect of maternal and paternal ages as a risk factor for the occurrence of oral clefts (Au)

Pacientes con fisura labio-alveolo-palatina: estudio descriptivo de pacientes atendidos en el Hospital Público Materno Infantil, Pcia. de Salta, entre los años 2010 y 2014 / A descriptive study of patients with FLAP at the Public Maternity Child Hospital in the province of Salta, between 2010 and 2014

La fisura labio-palatina (FLP) es una de las malformaciones congénitas más frecuentes. Si bien la fisura de labio y la fisura de paladar son distintas y pueden presentarse de manera individual o ambas en el mismo individuo, es útil estudiarlas en conjunto. La prevalencia en Argentina es menor que la media informada a nivel mundial. Esta patología requiere un tratamiento continuo y mutidisciplinario, con el fin de disminuir sus secuelas. El Hospital Público Materno Infantil (HPMI) de la provincia de Salta, es el principal centro de referencia que trabaja con niños fisurados de toda la provincia. Dada la diversidad de etnias y regiones geográficas de procedencia de los pacientes, se considera conveniente sistematizar la información. Para ello, se realizó un estudio descriptivo sobre 308 pacientes con FLAP: el sexo más afectado fue el masculino y la mayoría proviene de los Departamentos de Molinos y Los Andes. La fisura más frecuente es la unilateral izquierda completa. El 92,5 por ciento de los pacientes FLAP no presentaron asociación con síndromes y el 28,6 por ciento abandonó el tratamiento ortodóncico-ortopédico, la mayoría antes del primer año de vida. Si bien los datos aportados fueron similares a los de otros autores, ésta es la primera base de datos para la provincia de Salta. La misma permitirá realizar nuevas investigaciones y propone consignar una historia clínica estandarizada para la institución...

El estrés materno como factor de riesgo para fisuras labio-palatinas / Maternal stress like risk factors for oral clefts

Introduction: several studies have shown an association between stress caused by natural disasters, acts of terrorism and war, which have been corroborated by experimental studies in rats, with presence of oral clefts (FO) in the children of women who suffered stress in the first weeks of pregnancy. Objectives: To demonstrate the relationship between stress caused by the earthquake and tsunami that struck the central and south regions of Chile, on February 27, 2010 and the prevalence rate of FO in the disaster area. Material and Methods: Registration of ECLAMC (Latin American Collaborative Study of Congenital Malformations) Period 2000- 2011. With this information we created two groups: Group 1: Children born before the event, from 2002 to 2009 up to 6 months after earthquake, that means August 2010. Group 2: the post-earthquake period, from the seventh month after the earthquake (September) until the end of 2011. Results: the prevalence of oral clefts of the first group was 0.88 per thousand births (0.57 for cleft lip and cleft palate 0.30) .and the second group of 1.07 per thousand, (0.70 cleft lip and cleft palate 0.37) statistically significant difference (p <0.05). Conclusion: There is a positive, significant association between maternal stress and the risk of having children with FO.

Diabetes mellitus and drug abuse during pregnancy and the risk for orofacial clefts and related abnormalities / La diabetes mellitus, el abuso de drogas durante el embarazo y el riesgo de malformaciones craneofaciales y anomalías relacionadas / Diabetes mellitus e uso de drogas durante a gravidez e o risco de fissuras orofaciais e anomalias relacionadas

Abstract Objective: to assessed the prevalence of diabetes mellitus (DM) and drug abuse in mothers of children with orofacial clefts (OFC). Methods: 325 women who had children (0-3y) with clefts were interviewed. Data regarding type of diabetes, use of legal/illegal drugs during pregnancy, waist girth and fasting blood sugar at the first prenatal consult were collected. Results: twenty seven percent of the women had DM, out of these, 89% had gestational DM, 5,5% type 1 DM and 5,5% type 2 DM. The prevalence of DM in mothers of children with OFC was 27%, it is significantly higher than the average Brazilian population which is 7.6% (p<0.01) (OR=4.5, 95%CI=3.5-5.8). Regarding drug abuse during pregnancy, 32% of the mothers used drugs and a significant positive correlation was observed between drug abuse and the occurrence of clefts and other craniofacial anomalies (p=0.028) (OR=2.87; 95%CI=1.1-7.4). Conclusions: DM and drug abuse during pregnancy increases the risk for OFC and related anomalies and early diagnosis of DM and prevention of drug abuse, especially in pregnant women, should be emphasized.

Resumen Objetivos: esta investigación estableció la prevalencia de diabetes mellitus (DM) y el abuso de drogas en madres de niños con malformaciones creaneofaciales (MCF). Métodos: 325 mujeres que tuvieron hijos (0-3 años) con malformaciones fueron entrevistadas. Se obtuvieron datos referentes a: tipo de diabetes; uso de drogas lícitas o ilícitas durante el embarazo; circunferencia de la cintura; y, glucemia en ayunas en la primera consulta prenatal. Resultados: el veintisiete por ciento de las mujeres tenían DM. Entre estas, el 89% tuvieron DM gestacional, el 5,5% DM tipo 1 y el 5,5% DM tipo 2. La prevalencia de DM en madres de hijos con MCF fue de 27%. Esto es significativamente más alto que el promedio de la población brasileña afectada por esa enfermedad, que es de 7,6% (p<0.01) (OR=4,5, 95%IC=3,5-5,8). Observando el abuso de drogas durante el embarazo, el 32% de las madres había utilizado drogas y una correlación positiva significativa fue observada entre el abuso de drogas y la ocurrencia de hendiduras y otras malformaciones craneofaciales (p=0,028) (OR=2,87; 95%IC=1,1-7,4). Conclusiones: la DM y el abuso de drogas durante el embarazo aumentan el riesgo de MCF y de anomalías relacionadas; se enfatiza la importancia del diagnóstico precoz de DM y la prevención del abuso de drogas, especialmente entre las mujeres embarazadas.

Resumo Objetivos: avaliar a prevalência de diabetes mellitus (DM) e o uso de drogas em mães de crianças com fissuras orofaciais (FOF). Método: 325 mulheres que tiveram filhos (0-3 anos) com fissuras foram entrevistadas. Os dados referentes tipo de diabetes, uso de drogas lícitas / ilícitas durante a gravidez, circunferência abdominal e glicemia em jejum na primeira consulta pré-natal foram coletados. Resultados: vinte e sete por cento das mulheres tinham DM. Destes, 89% tinham DM gestacional, 5,5% DM tipo 1 e 5,5% DM tipo 2. A prevalência de DM em mães de crianças com FOF foi de 27%, significativamente mais elevado que a média da população brasileira que é de 7,6% (p <0,01) (OR = 4,5, IC de 95% = 3,5-5,8). Com relação ao uso de drogas, 32% das mães eram usuárias drogas durante a gravidez e uma correlação positiva foi observada entre o uso de drogas e a ocorrência de FOF e anomalias relacionadas (p = 0,028) (OR = 2,87; IC95% = 1,1-7,4). Conclusões: DM e uso de drogas durante a gravidez aumentam o risco de FOF e anomalias relacionadas e o diagnóstico precoce de DM e a prevenção do uso de drogas, especialmente em mulheres grávidas, devem ser enfatizados.

Clinical aspects associated with syndromic forms of Orofacial Clefts in a Colombian population / Aspectos Clínicos asociados a Fisuras Orofaciales en una población Colombiana

Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

Objetivos: Presentar la epidemiología descriptiva en torno a las Fisuras Orofaciales y determinar asociaciones entre Fisuras Orofaciales sindromica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades en una población Colombiana. Métodos: Se planteó un estudio de serie de casos anidado estratificado. Se calcularon frecuencias en relación al tipo de fisura desde el punto de vista anatómico, anomalías congénitas paralelas, morbilidades y forma clínica. Se analizó la distribución de las Fisuras Orofaciales de acuerdo al género y lateralidad. Se determinaron razones de disparidad entre la forma sindrómica y antecedentes antenatales de alto riesgo, parto pretérmino, y comorbilidades. Se evaluaron trecientos once pacientes que asistieron a la consulta de genética clinica durante un año. Resultados: La Fisura Labio-palatina fue el tipo más frecuente en la muestra evaluada y la más frecuente en hombres. La Fisura Palatina fué la más frecuente en mujeres, la forma clínica más común fue la no sindrómica. En la población sindrómica el Síndrome de Aarskog-Scott mostró la frecuencia más alta. Los trastornos Hipertensivos de Embarazo, la Displasia del Desarrollo de la Cadera, las enfermedades respiratorias y del sistema nervioso central mostraron una asociación estadísticamente significativa con la forma sindrómica. (p <0.05). Conclusiones: Estos datos ofrecen una referencia epidemiológica descriptiva de las Fisuras Orofaciales en Colombia. Las asociaciones encontradas entre los aspectos clínicos estudiados y la forma sindrómica, deben ser investigadas en próximos estudios con el fin de determinar relaciones de causalidad.

Prevalence of patients with cleft lip and palate who were treated at the San Borja Arriarán Clinical Hospital in Santiago Chile, within the AUGE Healthcare Plan / Prevalencia de pacientes con fisuras labio palatinas tratadas en el Hospital San Borja Arriarán en Santiago de Chile, en el marco del Plan Auge

Cleft lip and palate (CLP) are congenital defects caused by faulty fusion of the embryonic processes that participate in the formation of oral and nasal cavities, this leads to a number of functional, social and psychological alterations. The incidence is estimated at 1/700 live birth, resulting in a high cost to the public health system. In 2005 these malformations were incorporated in the Regime of Explicit Health Guarantees (Garantías Explícitas en Salud ­ GES), also known as Plan AUGE, a health program developed in Chile, that has been conceived and implemented to guarantee access, quality, protection and recovery for certain pathologies. To determine which clefts are more prevalent in patients who were treated in the Hospital and compare these results are consistent with international literature, along with which gender is more affected and their association with other syndromes. Medical records of 169 patients with CLP were reviewed. Their gender, type of cleft according to its anatomical classification and their association with other syndromes were recorded. Ten percent of the CLP were associated with syndromes, there being a higher prevalence among male infants (56.8%) than females (43.2%). Incidence of cleft lip, with or without cleft palate, was higher than the incidence of isolated cleft palate. CLP has a heterogeneous distribution. This creates the need to know, which clefts are more prevalent in our patients and to compare with other results.

Las Fisuras Labio Palatinas (FLP) son defectos congénitos causados por una mala fusión de los procesos embrionarios que participan en la formación de las cavidades oral y nasal, que generan una seria de alteraciones funcionales, sociales y pscicológicas. La incidencia de las FLP se estima en 1/700 nacidos vivos, lo que genera un importante gasto a nivel de salud pública. En el 2005 éstas malformaciones fueron incorporadas al "Régimen de Garantías Explícitas en Salud (GES)", también conocido como Plan AUGE, éste es un programa de salud concebido y creado para garantizar el acceso, calidad, protección y recuperación de ciertas patologías. Determinar que fisuras con más prevalentes en pacientes que han sido tratados en el Hospital y comparar estos resultados con la literatura internacional, además determinar que género se ve más afectado y si existe asociación con síndromes. Se revisaron las fichas clínicas de 169 pacientes con FLP. Registrándose el género, el tipo FLP de acuerdo a su clasificación anatómica y la asociación con otros síndromes. Resultados: 10% de las FLP presentaban otro síndrome asociado. Hay una mayor incidencia en el género masculino (56,8%) que en el femenino (43.2%). Las fisuras de labio, con o sin compromiso del paladar, son más frecuentes que las fisuras labiales aisladas. Las FLP tienen una distribución heterogénea. Esto crea la necesidad de conocer que fisuras son más prevalentes en nuestros pacientes con el objetivo de compararlos con otros resultados.