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1.
J Biol Regul Homeost Agents ; 33(3 Suppl. 1): 145-151, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31538461

RESUMO

Nonsyndromic cleft lip with or without cleft palate is the most common craniofacial anomaly affecting around 1 in 700 live births worldwide. Clefts of the human face can be classified anatomically as cleft palate only (CPO), cleft lip only (CLO), cleft lip and palate (CLP) or a combined group of cleft lip with or without cleft palate (CL/P), based on different in embryologic development. These malformations have some genetic origin, in fact several association studies have been performed to obtain important information about the candidate genes; but more important are gene-environment interactions that play an increasing role in its etiology. Epidemiological studies have shown how environmental factors (alcohol, smoking, drugs), as well as possible gene-environment interactions, play an important role in the onset of the malformation. On the contrary, folic acid intake seems to have a protective effect. In this review, we analyze the role of environmental factors related to onset of cleft.


Assuntos
Fenda Labial/etiologia , Fissura Palatina/etiologia , Consumo de Bebidas Alcoólicas/efeitos adversos , Fenda Labial/genética , Fissura Palatina/genética , Ácido Fólico/administração & dosagem , Interação Gene-Ambiente , Humanos , Fumar/efeitos adversos , Transtornos Relacionados ao Uso de Substâncias/complicações
2.
Rev. cuba. estomatol ; 56(3): e1863, jul.-set. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1093238

RESUMO

RESUMEN Introducción: Los defectos del desarrollo se deben a malformaciones congénitas, deformaciones o disrupciones. Las fisuras de labio y/o paladar son deficiencias estructurales congénitas debidas a la falta de unión entre procesos faciales embrionarios en formación. Objetivo: Evaluar la calidad de las guías de manejo de labio y/o paladar hendido. Métodos: Se realizó un estudio descriptivo. Se evaluaron seis guías de manejo de labio y/o paladar hendido en inglés y español desde 1990 a 2012. La búsqueda se realizó de manera electrónica (nivel global) y manual (nivel local); en la electrónica se consultaron bases de datos como MEDLINE, PubMed, EMBASE y SciELO; para la búsqueda manual se solicitaron por escrito guías a entidades públicas y privadas que manejan pacientes con labio y/o paladar hendido como Hospital Militar, Hospital San José, Operación Sonrisa, y Universidad El Bosque. Estas guías fueron filtradas según título y contenido para su selección. Previo a la evaluación de estas, se realizó una estandarización entre las evaluadoras. Finalmente se evaluó la calidad de las guías según lineamientos del instrumento Agree II. Resultados: La guía clínica de Chile en los dominios 1 y 4 obtuvo 100 por ciento y la guía de la Universidad Santo Tomás en Bucaramanga, presentó menos del 50 por ciento en los seis dominios. Conclusiones: De las guías para el manejo de labio y/o paladar hendido evaluadas, ninguna cumplió con todos los criterios de calidad del instrumento Agree II(AU)


ABSTRACT Introduction: Developmental defects are due to congenital malformations, deformations or disruptions. Lip and/or palate fissures are congenital structural deficiencies caused by lack of conjunction between developing embryonic facial processes. Objective: Evaluate the quality of cleft lip and/or palate management guidelines. Methods: A descriptive study was conducted. Evaluation was performed of six cleft lip and/or palate management guidelines published in English and Spanish from 1990 to 2012. The search was both electronic (global level) and manual (local level). The electronic search included databases such as MEDLINE, PubMed, EMBASE and SciELO, whereas for the manual search written requests for guidelines were sent to public and private organizations that manage cleft lip and/or palate patients, such as the Military Hospital, San José Hospital, Operación Sonrisa (Operation Smile) and El Bosque University. For their selection, the guidelines were filtered by title and content. Before assessing the guidelines, the evaluators standardized them. Finally, evaluation of the guidelines was performed following the instructions in the AGREE II tool. Results: The Chilean clinical guideline obtained 100 percent in domains 1 and 4, whereas the guideline from Saint Thomas University in Bucaramanga obtained less than 50 percent in the six domains. Conclusions: None of the management guidelines for cleft lip and/or palate evaluated met all the quality criteria in the AGREE II tool(AU)


Assuntos
Humanos , Anormalidades Congênitas/epidemiologia , Bases de Dados Bibliográficas , Fissura Palatina/etiologia , Guia de Prática Clínica , Literatura de Revisão como Assunto , Epidemiologia Descritiva , Estudos Transversais
3.
BMC Res Notes ; 12(1): 495, 2019 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-31399144

RESUMO

OBJECTIVE: Although infant mortality because of birth defect has increased in both developed and developing countries, had not got attention like other health issues at national, regional, or local levels. Documenting the risk factors that influence the occurrence of birth defects and its seasonality will help to inform the community and to develop preventive strategies for the country. RESULTS: Factors associated with higher likelihood of a major structural birth defects included maternal age; neonates born from women living in urban; and in Dega; history of fever during pregnancy; intake of herbal medicine; and drinking alcohol. Counselling for pregnancy preparation and folic acid supplementation was found protective for the likelihood of birth defect.


Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anormalidades Congênitas/epidemiologia , Anormalidades Musculoesqueléticas/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Adulto , Consumo de Bebidas Alcoólicas/efeitos adversos , Estudos de Casos e Controles , Fenda Labial/etiologia , Fenda Labial/prevenção & controle , Fissura Palatina/etiologia , Fissura Palatina/prevenção & controle , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/prevenção & controle , Países em Desenvolvimento , Suplementos Nutricionais , Etiópia/epidemiologia , Feminino , Febre/complicações , Ácido Fólico/administração & dosagem , Humanos , Lactente , Recém-Nascido , Masculino , Idade Materna , Anormalidades Musculoesqueléticas/etiologia , Anormalidades Musculoesqueléticas/prevenção & controle , Defeitos do Tubo Neural/etiologia , Defeitos do Tubo Neural/prevenção & controle , Parto , Gravidez , Encaminhamento e Consulta , Fatores de Risco , Estações do Ano , População Urbana
4.
Artigo em Inglês | MEDLINE | ID: mdl-31336885

RESUMO

This study examines the spatial structure of children with cleft lip and palate (CLP) and its association with polluted areas in the Monterrey Metropolitan Area (MMA). The Nearest Neighbor Index (NNI) and the Spatial Statistical Scan (SaTScan) determined that the CLP cases are agglomerated in spatial clusters distributed in different areas of the city, some of them grouping up to 12 cases of CLP in a radius of 1.2 km. The application of the interpolation by empirical Bayesian kriging (EBK) and the inverse distance weighted (IDW) method showed that 95% of the cases have a spatial interaction with values of particulate matter (PM10) of more than 50 points. The study also shows that 83% of the cases interacted with around 2000 annual tons of greenhouse gases. This study may contribute to other investigations applying techniques for the identification of environmental and genetic factors possibly associated with congenital malformations and for determining the influence of contaminating substances in the incidence of these diseases, particularly CLP.


Assuntos
Fenda Labial/epidemiologia , Fenda Labial/etiologia , Fissura Palatina/epidemiologia , Fissura Palatina/etiologia , Poluentes Ambientais/toxicidade , Poluição Ambiental , Teorema de Bayes , Criança , Pré-Escolar , Fissura Palatina/etnologia , Feminino , Humanos , Incidência , Masculino , México/epidemiologia , Material Particulado
5.
Int J Pediatr Otorhinolaryngol ; 124: 164-172, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31200319

RESUMO

OBJECTIVE: Cleft palate is one of the most common craniofacial birth defects in the maxillofacial region. There is an urgent need in tissue regeneration research to establish animal models that faithfully mimic human diseases. Here, we compared three surgical models of bone tissue defects in cleft palate in rabbits in order to screen for the biomaterials that induced optimal bone regeneration. DESIGN: Rabbits were used to establish the models of hard palate cleft, alveolar cleft, and alveolar process cleft. Eight weeks following surgery, bone tissue self-healing capacity was estimated by macroscopic appearance and calculating the area of defective bone tissue. The dimensions of the upper jaw in left and right sides were measured at zero and eight weeks. RESULTS: Bone defects in three types of cleft palate models were made at the positions of the hard palate, alveoli and alveolar process. After 8 weeks, when the hard palate was partially excised, it underwent self-healing. When the hard palate was completely excised, it underwent partial self-healing. However, in the models of alveolar cleft and alveolar process cleft, there was no significant self-healing in the bone tissues. The dimensions of the upper jaw in left and right sides were no significant differences in three types of cleft palate models. CONCLUSIONS: Bone defects in the alveolar and alveolar process clefts exhibit a diminished capability for self-healing. This study may provide valuable information for the screening of materials that induce bone regeneration.


Assuntos
Fissura Palatina/cirurgia , Modelos Animais de Doenças , Modelos Anatômicos , Processo Alveolar/cirurgia , Animais , Regeneração Óssea , Fissura Palatina/etiologia , Feminino , Masculino , Maxila/cirurgia , Palato Duro/cirurgia , Coelhos , Cicatrização
6.
J Craniofac Surg ; 30(8): e694-e696, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31188249

RESUMO

PURPOSE: The aim of this study is to assess the influence of some risks factors on the fistula development after palatoplasty to improve the outcome of the patients PATIENTS AND METHODS:: A total of 48 patients (the males were 22, The females were 26) were included in this study. All the patients were examined weekly for the first month postoperatively to assess any breakdown in the wound by inspection and by asking the parents for any nasal regurgitation during fluids feeding. RESULTS: The incidence of palatal fistula development after primary palatoplasty in this study was 12.5% (6\48). Occurrence of fistula was unrelated to the gender (P >0.5), but it was directly related to the age of patients (r = 0.98) and to the size of the cleft (r = 1). Fistula had occurred most likely in cases of Baradach 2 flap palatoplasty (83.3%) this was occurred especially when it was used for isolated cleft palate, but it was not associated with the type of the cleft (P >0.4). The surgeons experience and the use of prophylactic antibiotic were associated with the development of the fistula (P = 0.01 for both). CONCLUSION: knowledge of the expected risk factors for fistula after different protocols of palatoplasty can improve the experience of the surgeon and improve the outcome on the patients.


Assuntos
Fissura Palatina/etiologia , Fístula Bucal/cirurgia , Procedimentos Cirúrgicos Bucais/efeitos adversos , Pré-Escolar , Humanos , Incidência , Lactente , Estudos Retrospectivos , Fatores de Risco , Retalhos Cirúrgicos
7.
Hum Exp Toxicol ; 38(9): 1014-1023, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31169026

RESUMO

Cleft lip and cleft palate also known as orofacial cleft is a congenital malformation involving the partial or total lack of anatomical continuity of craniofacial tissue. The most common environmental factors that may cause orofacial clefts include pharmaceuticals, alcohol, addictive drugs, and tobacco smoke. Living in the area of industrial factories, garbage, ironworks, crematoria, wastewater treatment plants, and plastic waste landfills also has a significant impact on the development of the craniofacial defects. Some of the main factors causing the formation of congenital craniofacial defects are dioxins, of which emission to the environment is an important environmental and health problem. Dioxins are a diverse group of organic chemical compounds, derivatives of oxanthrene and fumarates, which are organoleptically imperceptible. Acting mainly through induction of inflammation, they influence a number of metabolic processes, including the process of bone mineralization and embryonic development. In this work, we highlight the problem of orofacial cleft including the impact of dioxin on development of this defect and the recommended prevention.


Assuntos
Fenda Labial/etiologia , Fissura Palatina/etiologia , Dioxinas/toxicidade , Poluentes Ambientais/toxicidade , Fenda Labial/prevenção & controle , Fissura Palatina/prevenção & controle , Feminino , Humanos , Gravidez
8.
Eur J Hum Genet ; 27(2): 226-234, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30254216

RESUMO

Nonsyndromic oral clefting (NSOC) is although one of the most common congenital disorders worldwide, its underlying molecular basis remains elusive. This process has been hindered by the overwhelmingly high level of heterogeneity observed. Given that hitherto multiple loci and genes have been associated with NSOC, and that complex diseases are usually polygenic and show a considerable level of missing heritability, we used a systems genetics approach to reconstruct the NSOC network by integrating human-based physical and regulatory interactome with whole-transcriptome microarray data. We show that the network component contains 53% (23/43) of the curated NSOC-implicated gene set and displays a highly significant propinquity (P < 0.0001) between genes implicated at the genomic level and those differentially expressed at the transcriptome level. In addition, we identified bona fide candidate genes based on topological features and dysregulation (e.g. ANGPTL4), and similarly prioritised genes at GWA loci (e.g. MYC and CREBBP), thus providing further insight into the underlying heterogeneity of NSOC. Gene ontology analysis results were consistent with the NSOC network being associated with embryonic organ morphogenesis and also hinted at an aetiological overlap between NSOC and cancer. We therefore recommend this approach to be applied to other heterogeneous complex diseases to not only provide a molecular framework to unify genes which may seem as disparate entities linked to the same disease, but to also predict and prioritise candidate genes for further validation, thus addressing the missing heritability.


Assuntos
Encéfalo/anormalidades , Fenda Labial/genética , Fissura Palatina/genética , Redes Reguladoras de Genes , Estudo de Associação Genômica Ampla/métodos , Genômica/métodos , Transcriptoma , Fenda Labial/etiologia , Fissura Palatina/etiologia , Humanos , Herança Multifatorial , Mapas de Interação de Proteínas
9.
Oral Maxillofac Surg ; 23(1): 113-117, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30515601

RESUMO

BACKGROUND: Russell-Silver syndrome (RSS) is characterized by intrauterine growth retardation, short stature without postnatal catch-up growth, and an inverted triangular face with relative macrocephaly. There have been few case reports of RSS with cleft palate, in which perioperative problems such as difficult intubation due to trismus and impossibility to wear a mouth gag due to growth failure of the mandible were described. The case of a female RSS patient with cleft palate who underwent palatoplasty is reported. CASE PRESENTATION: Although her weight was particularly low (5920 g), palatoplasty was performed under general anesthesia at 3 years and 6 months of age. Despite limited mouth opening, intubation was relatively easy. Although her mandibular alveolar width was narrow, a Dingman mouth gag could be tightly fastened around her mouth. Postoperatively, the patient was transferred to the intensive care unit without extubation due to pharyngeal edema. On the following day, since the pharyngeal edema had improved, the endotracheal tube was extubated, and her respiratory status was subsequently stable. CONCLUSIONS: In RSS patients with cleft palate, there have been a few reports of pharyngeal edema. Thus, the risk of pharyngeal edema must be considered in such patients.


Assuntos
Fissura Palatina/etiologia , Síndrome de Silver-Russell/complicações , Pré-Escolar , Fissura Palatina/cirurgia , Feminino , Humanos , Palato/cirurgia
10.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 48(4): 378-383, 2019 Jun 25.
Artigo em Chinês | MEDLINE | ID: mdl-31901040

RESUMO

OBJECTIVE: To analyze clinical and genetic features of a family affected with Van der Woude syndrome. METHODS: The umbilical cord blood of the proband and the peripheral blood of the parents were used for the whole exon sequencing to find the candidate gene.Peripheral blood of 9 members of the family were collected for Sanger sequencing verification, bioinformatics analysis and genotype-phenotype correlation analysis. RESULTS: The proband was diagnosed with cleft lip and palate by ultrasound. His father and grandmother had hollow lower lip and all other family members did not have the similar phenotype. A missense c.263A>G (p.N88S) mutation was found in exon 4 of IRF6 gene in the proband, his father and his grandmother.The mutation was not found in other family members. CONCLUSIONS: A missense c.263A>G (p.N88S) mutation in IRF6 gene probably underlies the pathogenesis of Van der Woude syndrome in the family and the mutation has been firstly discovered in China.


Assuntos
Anormalidades Múltiplas , Fenda Labial , Fissura Palatina , Cistos , Fatores Reguladores de Interferon , Lábio/anormalidades , Anormalidades Múltiplas/genética , China , Fenda Labial/complicações , Fenda Labial/diagnóstico por imagem , Fenda Labial/etiologia , Fenda Labial/genética , Fissura Palatina/complicações , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/etiologia , Fissura Palatina/genética , Cistos/complicações , Cistos/genética , Feminino , Humanos , Fatores Reguladores de Interferon/genética , Masculino , Mutação , Linhagem , Ultrassonografia
11.
Prim Dent J ; 7(3): 38-41, 2018 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-30428966

RESUMO

Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms including important oral manifestations which general dental practitioners should be aware of. In light of the risk of malignancy it is important to be aware of this syndrome and recognise the need for early referral for multidisciplinary management. This paper aims to discuss Gorlin-Goltz syndrome, the pathophysiology of the condition and address the wide range of clinical manifestations. The author will pay particular attention to the oral manifestations of the condition and the management of such anomalies.


Assuntos
Síndrome do Nevo Basocelular/diagnóstico , Fenda Labial/etiologia , Fissura Palatina/etiologia , Humanos , Cistos Odontogênicos/etiologia , Cistos Odontogênicos/terapia
12.
Birth Defects Res ; 110(19): 1468-1477, 2018 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-30338937

RESUMO

BACKGROUND: Limited epidemiologic research exists on the association between weather-related extreme heat events (EHEs) and orofacial clefts (OFCs). We estimated the associations between maternal exposure to EHEs in the summer season and OFCs in offspring and investigated the potential modifying effect of body mass index on these associations. METHODS: We conducted a population-based case-control study among mothers who participated in the National Birth Defects Prevention Study for whom at least 1 day of their first two post-conception months occurred during summer. Cases were live-born infants, stillbirths, and induced terminations with OFCs; controls were live-born infants without major birth defects. We defined EHEs using the 95th and the 90th percentiles of the daily maximum universal apparent temperature distribution. We used unconditional logistic regression with Firth's penalized likelihood method to estimate adjusted odds ratios and 95% confidence intervals, controlling for maternal sociodemographic and anthropometric variables. RESULTS: We observed no association between maternal exposure to EHEs and OFCs overall, although prolonged duration of EHEs may increase the risk of OFCs in some study sites located in the Southeast climate region. Analyses by subtypes of OFCs revealed no associations with EHEs. Modifying effect by BMI was not observed. CONCLUSIONS: We did not find a significantly increased risk of OFCs associated with maternal exposure to EHEs during the relevant window of embryogenesis. Future studies should account for maternal indoor and outdoor activities and for characteristics such as hydration and use of air conditioning that could modify the effect of EHEs on pregnant women.


Assuntos
Encéfalo/anormalidades , Fenda Labial/etiologia , Fissura Palatina/etiologia , Calor Extremo/efeitos adversos , Vigilância da População/métodos , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Modelos Logísticos , Masculino , Exposição Materna/efeitos adversos , Mães , Razão de Chances , Gravidez , Primeiro Trimestre da Gravidez , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Fatores de Risco , Estações do Ano , Autorrelato , Temperatura , Tempo (Meteorologia)
13.
Birth Defects Res ; 110(19): 1455-1467, 2018 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-30367712

RESUMO

BACKGROUND: Arsenic is widely distributed in the environment in both inorganic and organic forms. Evidence from animal studies suggests that maternal inorganic arsenic may lead to the development of orofacial clefts (OFC)s in offspring. This evidence, together with the limited epidemiologic data available, supports the need for a comprehensive examination of major sources of arsenic exposure and OFCs in humans. METHODS: Using interview data collected in the National Birth Defects Prevention Study, public and well water arsenic sampling data, and dietary arsenic estimates, we compared expert-rater assessed occupational arsenic exposure, individual-level exposure to arsenic through drinking water, and dietary arsenic exposure between mothers of OFC cases (N = 435) and unaffected controls (N = 1267). Associations for each source of exposure were estimated for cleft lip ± palate (CL/P) and cleft palate (CP) using unconditional logistic regression analyses. RESULTS: Associations for maternal drinking water arsenic exposure and CL/P were near or below unity, whereas those for dietary arsenic exposure tended to be positive. For CP, positive associations were observed for maternal occupational arsenic and inorganic arsenic exposures, with confidence intervals that excluded the null value, whereas those for drinking water or dietary arsenic exposures tended to be near or below unity. CONCLUSIONS: Positive associations were observed for maternal occupational arsenic exposure and CP and for maternal dietary arsenic exposure and CL/P; the remainder of associations estimated tended to be near or below unity. Given the exploratory nature of our study, the results should be interpreted cautiously, and continued research using improved exposure assessment methodologies is recommended.


Assuntos
Arsênico/efeitos adversos , Encéfalo/anormalidades , Fenda Labial/etiologia , Fissura Palatina/etiologia , Vigilância da População/métodos , Adulto , Intoxicação por Arsênico/complicações , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Modelos Logísticos , Masculino , Exposição Materna , Mães , Razão de Chances , Gravidez , Primeiro Trimestre da Gravidez , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Fatores de Risco , Autorrelato
14.
Orthod Craniofac Res ; 21(4): 236-241, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30188007

RESUMO

OBJECTIVE: To investigate parental age in relation to the severity of cleft diagnosis in a population-based consecutive sample of individuals with clefts. SETTING/SAMPLE: Retrospective, consecutive. MATERIAL/METHODS: The sample comprised 545 consecutive cases with nonsyndromic clefts (437 individuals with cleft lip with/without cleft palate [CL ± P] and 106 individuals with isolated cleft palate [CP]) and parental ages recorded. The groups were subdivided according to the extent/severity of cleft. Unilateral clefts were divided according to left/right sidedness. Logistic regression was used to analyse the association between parental age and risk of severe cleft separately for CL ± P and CP, as well as between parental age and risk of right-sided cleft. RESULTS: In CL ± P, the risk of a complete cleft in the offspring increases with maternal age when the paternal age exceeds approximately 29 years. Moreover, the risk is higher when both parents are old than when both parents are young. In CP, no statistically significant results were identified. However, there were clear trends that indicated a similar pattern as that for CL ± P. No association was identified between increased parental age and the sidedness of clefts. CONCLUSIONS: Parental age seems to contribute to cleft severity, as older parents showed a higher risk of having offspring with a complete cleft than younger parents.


Assuntos
Fenda Labial/etiologia , Fissura Palatina/etiologia , Pais , Fatores Etários , Fenda Labial/genética , Fissura Palatina/genética , Suscetibilidade a Doenças , Feminino , Humanos , Modelos Logísticos , Masculino , Estudos Retrospectivos , Fatores de Risco
15.
Birth Defects Res ; 110(12): 1027-1042, 2018 07 17.
Artigo em Inglês | MEDLINE | ID: mdl-30133956

RESUMO

BACKGROUND: Maternal exposure to drinking water disinfection byproducts (DBP)s may contribute to orofacial cleft (OFC) development, but studies are sparse and beset with limitations. METHODS: Population-based, maternal interview reports of drinking water filtration and consumption for 680 OFC cases (535 isolated) and 1826 controls were linked with DBP concentration data using maternal residential addresses and public water system monitoring data. Maternal individual-level exposures to trihalomethanes (THM)s and haloacetic acids (HAA)s (µg/L of water consumed) were estimated from reported consumption at home, work, and school. Compared to no exposure, associations with multisource maternal exposure <1/2 or ≥1/2 the Maximum Contaminant Levels (MCL)s for total THMs (TTHM)s and HAAs (HAA5) or Maximum Contaminant Level Goals (MCLG)s for individual THMs and HAAs (if non-zero) were estimated for all OFCs and isolated OFCs, cleft palate (CP), and cleft lip ± cleft palate (CL/P) using logistic regression analyses. RESULTS: Compared to controls, associations were near or below unity for maternal TTHM, HAA5, and individual THM exposures with all OFCs and isolated OFCs, CP, and CL/P. Associations also were near or below unity for individual HAAs with statistically significant, inverse associations observed with each OFC outcome group except CL/P. CONCLUSIONS: This study examined associations for maternal reports of drinking water filtration and consumption and maternal DBP exposure from drinking water with OFCs in offspring. Associations observed were near or below unity and mostly nonsignificant. Continued, improved research using maternal individual-level exposure data will be useful in better characterizing these associations.


Assuntos
Encéfalo/anormalidades , Fenda Labial/etiologia , Fenda Labial/prevenção & controle , Fissura Palatina/etiologia , Fissura Palatina/prevenção & controle , Desinfecção , Água Potável/efeitos adversos , Acetatos/análise , Feminino , Humanos , Recém-Nascido , Masculino , Exposição Materna , Razão de Chances , Fatores de Risco , Trialometanos/análise
16.
Ann Epidemiol ; 28(8): 510-514, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29936049

RESUMO

PURPOSE: Exposure misclassification, selection bias, and confounding are important biases in epidemiologic studies, yet only confounding is routinely addressed quantitatively. We describe how to combine two previously described methods and adjust for multiple biases using logistic regression. METHODS: Weights were created from selection probabilities and predictive values for exposure classification and applied to multivariable logistic regression models in a case-control study of prepregnancy obesity (body mass index ≥30 vs. <30 kg/m2) and cleft lip with or without cleft palate (CL/P) using data from the National Birth Defects Prevention Study (2523 cases, 10,605 controls). RESULTS: Adjusting for confounding by race/ethnicity, prepregnancy obesity, and CL/P were weakly associated (odds ratio [OR]: 1.10; 95% confidence interval: 0.98, 1.23). After weighting the data to account for exposure misclassification, missing exposure data, selection bias, and confounding, multiple bias-adjusted ORs ranged from 0.94 to 1.03 in nonprobabilistic bias analyses and median multiple bias-adjusted ORs ranged from 0.93 to 1.02 in probabilistic analyses. CONCLUSIONS: This approach, adjusting for multiple biases using a logistic regression model, suggested that the observed association between obesity and CL/P could be due to the presence of bias.


Assuntos
Índice de Massa Corporal , Peso Corporal , Fenda Labial/etiologia , Fissura Palatina/etiologia , Obesidade/classificação , Complicações na Gravidez/classificação , Adolescente , Adulto , Viés , Estudos de Casos e Controles , Feminino , Humanos , Modelos Logísticos , Pessoa de Meia-Idade , Obesidade/complicações , Vigilância da População , Gravidez , Resultado da Gravidez , Análise de Regressão , Medição de Risco , Adulto Jovem
17.
J Appl Oral Sci ; 26: e20170234, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29791568

RESUMO

Objectives To evaluate the association between hypoxia during embryo development and oral clefts in an animal model, and to evaluate the association between polymorphisms in the HIF-1A gene with oral clefts in human families. Material and Methods The study with the animal model used zebrafish embryos at 8 hours post-fertilization submitted to 30% and 50% hypoxia for 24 hours. At 5 days post-fertilization, the larvae were fixed. The cartilage structures were stained to evaluate craniofacial phenotypes. The family-based association study included 148 Brazilian nuclear families with oral clefts. The association between the genetic polymorphisms rs2301113 and rs2057482 in HIF-1A with oral clefts was tested. We used real time PCR genotyping approach. ANOVA with Tukey's post-test was used to compare means. The transmission/disequilibrium test was used to analyze the distortion of the inheritance of alleles from parents to their affected offspring. Results For the hypoxic animal model, the anterior portion of the ethmoid plate presented a gap in the anterior edge, forming a cleft. The hypoxia level was associated with the severity of the phenotype (p<0.0001). For the families, there was no under-transmitted allele among the affected progeny (p>0.05). Conclusion Hypoxia is involved in the oral cleft etiology, however, polymorphisms in HIF-1A are not associated with oral clefts in humans.


Assuntos
Fenda Labial/embriologia , Fenda Labial/etiologia , Fissura Palatina/embriologia , Fissura Palatina/etiologia , Hipóxia Fetal/complicações , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Polimorfismo Genético , Adolescente , Adulto , Idoso , Análise de Variância , Animais , Criança , Pré-Escolar , Modelos Animais de Doenças , Feminino , Hipóxia Fetal/genética , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase em Tempo Real , Índice de Gravidade de Doença , Estatísticas não Paramétricas , Adulto Jovem , Peixe-Zebra
18.
J Craniofac Surg ; 29(6): e534-e541, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29762322

RESUMO

INTRODUCTION: There is controversial evidence from the literature regarding the protective effect of folic acid supplementation during pregnancy against orofacial clefts. The authors undertook this meta-analysis to assess whether folate supplementation during pregnancy can reduce the risk of nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) in infants. METHODS: Eligible articles were identified by searching databases, including PubMed, Medline, Scopus, ISI (Web of Knowledge) to September 2017. A meta-analysis was performed to evaluate the effects of maternal supplementation on oral clefts. Odds ratios (ORs) and 95% confidence intervals (CIs) were pooled using Stata software. Publication bias was assessed by the Begg and Egger test. (Registration ID: CRD42018083922) RESULTS:: Out of the 1630 articles found in the authors' initial literature searches, 6 cohort studies, and 31 case-control studies were included in the authors' final meta-analysis. The results of the main analysis revealed that maternal folate supplementation was associated with a modest but statically significant decreased risk of all cleft subtypes (OR = 0.69, 95% CI: 0.60, 0.78). Folic acid intake alone was inversely associated with CL/P (OR = 0.73, 95% CI: 0.62-0.85,) but to a lesser extent than CPO (OR = 0.75, 95% CI = 053-1.04). Multivitamin intake had a significant protective effect for CL/P (OR = 0.65 95% CI = 0.55-0.80) as well as CPO (OR = 0.69, 95% CI = 0.53-0.90). CONCLUSIONS: Our results indicate that maternal supplementation in early pregnancy reduces the risk of nonsyndromic CL/P and CPO in infants. These data can serve to reassure women planning a pregnancy to consume multivitamins during the periconception period to protect against oral clefts.


Assuntos
Fenda Labial/etiologia , Fissura Palatina/etiologia , Suplementos Nutricionais/efeitos adversos , Ácido Fólico/efeitos adversos , Exposição Materna/efeitos adversos , Feminino , Humanos , Recém-Nascido , Gravidez , Fatores de Risco , Complexo Vitamínico B/efeitos adversos
19.
Braz Oral Res ; 32: e24, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29641641

RESUMO

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.


Assuntos
Fenda Labial/epidemiologia , Fenda Labial/etiologia , Fissura Palatina/epidemiologia , Fissura Palatina/etiologia , Adolescente , Adulto , Brasil/epidemiologia , Criança , Pré-Escolar , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Comorbidade , Consanguinidade , Feminino , Humanos , Lactente , Masculino , Idade Materna , Exposição Materna , Gravidez , Prevalência , Medição de Risco , Fatores de Risco , Fatores Sexuais , Fumar/efeitos adversos , Adulto Jovem
20.
Ann Anat ; 218: 59-68, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29604388

RESUMO

INTRODUCTION: Craniofacial development in mammals is a complex process that involves a coordinated series of molecular and morphogenetic events. Folic acid (FA) deficiency has historically been associated with congenital spinal cord malformations, but the effect that a maternal diet deficient in FA has on the development of other structures has been poorly explored. In the present study, the objective was to describe and quantify the alterations of craniofacial structures presented in mouse foetuses from dams fed a FA deficient (FAD) diet compared with controls that were given a regular maternal diet. MATERIAL AND METHODS: E17 mouse foetuses were removed from dams that were fed with a control diet or with a FAD diet for several weeks. Foetuses with maternal FAD diets were selected for the study when they showed an altered tongue or mandible. Histological sections were used to quantify the dimensions of the head, tongue, mandibular bone and masseter muscle areas using ImageJ software. The muscles of the tongue, suprahyoid muscles, lingual septum, submandibular ducts, and lingual arteries were also analysed. RESULTS: The heads of malformed foetuses were smaller than the heads of the controls, and they showed different types of malformations: microglossia with micrognathia (some of which were combined with cleft palate) and aglossia with either micrognathia or agnathia. Lingual and suprahyoid muscles were affected in different forms and degrees. We also found alterations in the lingual arteries and in the ducts of the submandibular glands. Summarised we can state that pharyngeal arches-derived structures were affected, and the main malformations observed corroborate the vulnerability of cranial neural crest cells to FA deficiency. CONCLUSION: The present study reveals alterations in the development of craniofacial structures in FAD foetuses. This study provides a new focus for the role of FA during embryological development.


Assuntos
Anormalidades Craniofaciais/patologia , Feto/patologia , Deficiência de Ácido Fólico/patologia , Animais , Fissura Palatina/etiologia , Fissura Palatina/patologia , Anormalidades Craniofaciais/etiologia , Dieta , Feminino , Mandíbula/anormalidades , Músculos da Mastigação/patologia , Camundongos , Camundongos Endogâmicos C57BL , Gravidez , Língua/anormalidades , Doenças da Língua/patologia
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