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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.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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)
9.
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
10.
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
11.
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
12.
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
13.
Br J Oral Maxillofac Surg ; 56(6): 543-545, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29859779

RESUMO

We describe a paramedian cleft of the lower lip that cannot be explained by embryological development in a child with only one predisposing factor, which was fetal reduction for a multiple pregnancy. To the best of our knowledge, there has been no report of a cleft that has been induced by the reduction of a multifetal pregnancy.


Assuntos
Fenda Labial/etiologia , Fenda Labial/cirurgia , Redução de Gravidez Multifetal , Feminino , Humanos , Lactente , Masculino , Gravidez , Nascimento Prematuro , Fatores de Risco
14.
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
15.
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
16.
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
17.
Ann Plast Surg ; 80(4 Suppl 4): S178-S181, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29389703

RESUMO

BACKGROUND: Cleft lip and/or cleft palate (CL ± P) are among the most common congenital anomalies. Nevertheless, their etiologies remain poorly understood. Several studies have demonstrated increased rates of cancer among patients with CL ± P and their relatives, as well as increased risk of CL ± P among family members of cancer survivors. In addition, a number of possible genetic associations between cancer and CL ± P have been identified. However, these studies are limited by confounding factors that may be prevalent in these patients, such as tobacco exposure and perinatal complications.The purpose of this study was to quantitatively evaluate the association between family history of cancer and development of CL ± P in the child. METHODS: A case-control study was conducted at the Cleft Hospital and the Bashir Hospital in Gujrat, Pakistan from December 2015 to December 2016. All new cases of CL ± P at the Cleft Hospital were included. Sociodemographically similar patients without congenital malformations at the Bashir Hospital served as controls. Risk factors associated with CL ± P were identified through bivariate analyses. Multiple logistic regressions were performed to calculate adjusted odds ratios of developing CL ± P. RESULTS: There were 137 patients with CL ± P and 147 controls in the study. The following factors were statistically significantly associated with development of cleft: history of cancer in the family (P < 0.001), complications during pregnancy (P = 0.02), maternal hypertension during pregnancy (P = 0.01), mother not on any medications (P < 0.001), consanguineous marriage (parents are first or second cousins) (P = 0.03), lower socioeconomic status (P < 0.001), having a parent who smokes (P = 0.001), and history of miscarriage (P = 0.01). After adjustment for these variables, having a history of cancer in the family was independently associated with a 5.19 times increased odds of the child being born with CL ± P (95% confidence interval [CI], 1.57-17.03). Middle-class socioeconomic status (compared with lower) (odds ratio [OR], 0.36; 95% CI, 0.16-0.83), having a smoking parent (OR, 2.12; 95% CI, 1.05-4.28), and history of miscarriage (OR, 4.60; 95% CI, 1.21-17.54) were also statistically significantly associated with CL ± P within this model. CONCLUSIONS: This study provides evidence for a relationship between CL ± P and cancer that has been adjusted for confounders traditionally associated with patients with CL ± P, thereby supporting the evidence of shared environmental and/or genetic etiologies.


Assuntos
Fenda Labial/etiologia , Fissura Palatina/etiologia , Anamnese , Neoplasias/complicações , Adulto , Pré-Escolar , Feminino , Interação Gene-Ambiente , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Masculino , Razão de Chances , Paquistão , Estudos Prospectivos , Fatores de Risco
18.
Birth Defects Res ; 110(6): 527-537, 2018 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-29322637

RESUMO

BACKGROUND: Oral clefts are among the most common congenital anomalies. Most studies on risk factors of oral clefts have been carried out in developed countries. We investigated the associations between maternal exposures in the first trimester and oral clefts in South Vietnam. METHODS: We conducted a hospital-based case-control study during October 2014-November 2015. Cases included 170 patients with nonsyndromic cleft lip with or without cleft palate and those with cleft palate only. Controls were 170 children without oral clefts, matched to each case by age and gender. Mothers were interviewed using structured questionnaire. We performed conditional logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: Passive smoking was associated with increased risk of oral clefts in univariate analysis, but not in multivariable analysis (adjusted OR [aOR] = 1.68; 95% CI, 0.53-5.37). No association was observed between liver intake and oral clefts. Compared with nondrinkers, mothers who reported consumption of caffeine-containing beverages were more likely to have an infant with oral cleft (aOR = 5.89; 95% CI, 1.08-32.00). Periconceptional use of folic acid and multivitamins supplementation was associated with reduced risk of oral clefts (aOR = 0.01; 95% CI, 0.00-0.09 and aOR = 0.03; 95% CI, 0.01-0.13, respectively). CONCLUSIONS: The results suggest no associations of maternal passive smoking or liver intake with oral clefts. Periconceptional use of folic acid or multivitamins may protect against oral clefts. Further studies are warranted to examine the roles of caffeine consumption in pregnant mothers on occurrence of oral clefts in offspring.


Assuntos
Fenda Labial/epidemiologia , Fenda Labial/etiologia , Exposição Materna/efeitos adversos , Feminino , Humanos , Lactente , Masculino , Comportamento Materno , Fatores de Risco , Vietnã/epidemiologia
19.
Plast Reconstr Surg ; 141(5): 1201-1214, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29351181

RESUMO

BACKGROUND: Fistulas following cleft palate repair impair speech, health, and hygiene and occur in up to 35 percent of cases. The authors detail the evolution of a surgical approach to palatoplasty; assess the rates, causes, and predictive factors of fistulas; and examine the temporal association of modifications to fistula rates. METHODS: Consecutive patients (n = 146) undergoing palatoplasty during the first 6 years of practice were included. The technique of repair was based on cleft type, and a common surgical approach was used for all repairs. RESULTS: The fistula rate was 2.4 percent (n = 125) after primary repair and 0 percent (n = 21) after secondary repair. All complications occurred in patients with type III or IV clefts. Cleft width and cleft-to-total palatal width ratio were associated with fistulas, whereas syndromes, age, and adoption were not. Most complications could also be attributed to technical factors. During the first 2 years, modifications were made around specific anatomical features, including periarticular bony hillocks, maxillopalatine suture, velopalatine pits, and tensor insertion. The fistula rate declined by one-half in subsequent years. CONCLUSIONS: The authors describe a surgical approach to cleft palate repair, its evolution, and surgically relevant anatomy. Fistulas were associated with increasing cleft severity but could also be attributed to technical factors. A reduction in frequency and severity of fistulas was consistent with a learning curve and may in part be associated with modifications to the surgical approach. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Fístula Bucal/epidemiologia , Procedimentos Cirúrgicos Ortognáticos/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Criança , Pré-Escolar , Fenda Labial/etiologia , Fissura Palatina/etiologia , Feminino , Humanos , Incidência , Lactente , Masculino , Fístula Bucal/diagnóstico , Fístula Bucal/etiologia , Fístula Bucal/prevenção & controle , Procedimentos Cirúrgicos Ortognáticos/métodos , Procedimentos Cirúrgicos Ortognáticos/tendências , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Estudos Prospectivos , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do Tratamento
20.
J Oral Maxillofac Surg ; 76(5): 1058-1064, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29125932

RESUMO

PURPOSE: The etiology of the palatal cleft in Robin sequence (RS) is unknown. The purpose of this study was to assess the position of the fetal tongue at prenatal magnetic resonance imaging (MRI) and to suggest a potential relation between tongue position and development of the cleft palate seen in most patients with RS. MATERIALS AND METHODS: This is a retrospective case-and-control study including fetuses with prenatal MRIs performed in the authors' center from 2002 to 2017. Inclusion criteria were 1) prenatal MRI of adequate quality, 2) liveborn infant, and 3) postnatal diagnosis of RS (Robin group) or cleft lip and palate (CLP group). Patients with postnatal RS without a palatal cleft were excluded. A control group with normal facial morphology was matched by gestational age. The outcome variable was tongue position at fetal MRI, described as within the cleft, along the floor of the mouth (normal), other, or indeterminate. RESULTS: One hundred twenty-two patients with mean gestational age at MRI of 25.8 ± 4.9 weeks were included (Robin, n = 21 [17%]; CLP, n = 47 [39%]; control, n = 54 [44%]). The tongue was visualized within the palatal cleft in 76.2% of the Robin group and 4.3% of the CLP group. The tongue was found along the floor of the mouth (normal) in the remainder of the Robin and CLP groups and in 100% of the control group. CONCLUSION: These findings suggest a relation between in utero tongue position and the development of cleft palate in RS.


Assuntos
Fissura Palatina/embriologia , Imagem por Ressonância Magnética , Síndrome de Pierre Robin/embriologia , Diagnóstico Pré-Natal , Língua/embriologia , Estudos de Casos e Controles , Fenda Labial/diagnóstico por imagem , Fenda Labial/embriologia , Fenda Labial/etiologia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/etiologia , Feminino , Humanos , Masculino , Síndrome de Pierre Robin/diagnóstico , Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Língua/diagnóstico por imagem
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