RESUMO
Neural tube defects (NTD) are among the most common congenital abnormalities, with an incidence of 3 per 1000 live births in Turkey. In a study of major congenital abnormalities in the city of Denizli, Turkey, abnormalities of the central nervous system are particularly common (31.1%). The objective of this study was to develop a registry of cases with NTDs in Denizli. Cases that had been diagnosed with NTD between January 2004 and September 2010 in State Hospitals of Central Denizli were retrospectively examined. The diagnoses were established based on the ICD-10 criteria. A total of 250 subjects with NTD were identified, including 123 (49.2%) females and 127 (50.8%) males with a mean age of 13.72 ± 15.62 years (age range 1-81 years). Interestingly, spina bifida constituted a significant percentage of the cases (149 cases; 59.6%). In addition, 10 (4.0%) cases had hydrocephalus plus spina bifida. The second most common diagnosis was microcephaly, which included 70 cases (28.0%). Encephalocele was observed in only 2 cases (0.8%). Development of NTD is influenced by nutrition, socioeconomic factors, and the use of folic acid during the peri-conceptional period. Studies examining the effect of these factors on NTD in Turkey and a review of primary prevention measures are necessary.
Assuntos
Defeitos do Tubo Neural/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Defeitos do Tubo Neural/mortalidade , Sistema de Registros , Estudos Retrospectivos , Turquia/epidemiologia , Adulto JovemRESUMO
OBJECTIVE: Evaluate the impact of the fortification of food with folic acid on prevalence trends for neural tube defects (NTD) and the infant mortality rate (IMR) associated with this disorder in Costa Rica. METHODS: The surveillance data from the Congenital Disease Registry Center and the Central American Population Center were analyzed. The neural tube defects considered were anencephaly, spina bifida, and encephalocele. The trends from 1987-2009, as well as the differences in prevalence and mortality rates prior to and up to 12 years after food fortification with folic acid, were examined (95% confidence interval [CI]). The contribution of fortification to the decrease in the overall IMR was determined. RESULTS: During 1987-1997, prior to the period of food fortification with folic acid, NTD prevalence was 12/10 000 births (95% CI: 11.1-12.8), whereas in 2009 prevalence was 5.1/10 000 births (3.3-6.5). The IMR associated with NTD was 0.64/1 000 births (46-0.82) in 1997 and 0.19/1 000 births (0.09-9.3) in 2009. There were significant decreases in the IMR associated with NTD and the prevalence of NTD: 71%, and 58%, respectively (P < 0.05). The overall IMR decreased from 14.2/1 000 births in 1997 to 8.84/1 000 births in 2009 (P < 0.05). The decrease in the IMR associated with NTD contributed to an 8.8% decrease in the overall IMR from 1997 to 2009. CONCLUSIONS: Food fortification with folic acid caused a decrease in NTD at birth and the IMR associated with this malformation during the 1997-2009 period. It also led to a decrease in the overall IMR. There is a temporal relationship between the introduction of fortification policies and the decrease in prevalence and mortality associated with NTD. This intervention should be promoted in Latin American and Caribbean countries where it has not yet been implemented.
Assuntos
Ácido Fólico/administração & dosagem , Alimentos Fortificados , Defeitos do Tubo Neural/prevenção & controle , Anencefalia/epidemiologia , Anencefalia/mortalidade , Anencefalia/prevenção & controle , Animais , Costa Rica/epidemiologia , Encefalocele/epidemiologia , Encefalocele/mortalidade , Encefalocele/prevenção & controle , Feminino , Farinha , Humanos , Recém-Nascido , Masculino , Leite , Morbidade/tendências , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/mortalidade , Oryza , Prevalência , Sistema de Registros , Estudos Retrospectivos , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/mortalidade , Disrafismo Espinal/prevenção & controleRESUMO
OBJETIVO: Evaluar el impacto de la fortificación de alimentos con ácido fólico en las tendencias de las prevalencias de los defectos del tubo neural (DTN) y la tasa de mortalidad infantil (TMI) por este trastorno en Costa Rica. MÉTODOS: Se analizaron los datos de vigilancia del Centro de Registro de Enfermedades Congénitas y el Centro Centroamericano de Población. Se consideraron defectos del tubo neural la anencefalia, la espina bífida y el encefalocele. Se examinaron las tendencias durante 1987-2009, así como las diferencias de tasas (intervalo de confianza [IC] 95 por ciento) de prevalencia y mortalidad antes de la fortificación de alimentos con ácido fólico y hasta 12 años después de su implementación. Se determinó el aporte de la fortificación al descenso en la TMI general. RESULTADOS: En 1987-1997, previo al período de fortificación de alimentos con ácido fólico, la prevalencia de DTN fue de 12/10 000 nacidos (IC95 por ciento: 11,1-12,8), mientras que en 2009 fue de 5,1/10 000 nacidos (3,3-6,5). La TMI por DTN en 1997 fue de 0,64/1 000 nacimientos (46-0,82) y en 2009 de 0,19/1 000 (0,09-0,3). La TMI por DTN y su prevalencia disminuyeron en forma significativa, 71 por ciento y 58 por ciento respectivamente (P < 0,05). La TMI general disminuyó de 14,2/1 000 nacidos en 1997 a 8,84/1 000 en 2009 (P < 0,05). El descenso en la TMI por DTN contribuyó a una caída de 8,8 por ciento en la TMI general entre 1997 y 2009. CONCLUSIONES: La fortificación de alimentos con ácido fólico provocó una reducción de DTN al nacimiento y de la TMI por esta malformación durante el período 1997-2009, así como también el descenso de la TMI general. Existe relación de temporalidad entre el inicio de las políticas de fortificación y el descenso de la prevalencia y mortalidad por DTN. Se debe pro-mover esta intervención en los países de América Latina y el Caribe donde todavía no ha sido implementada.
OBJECTIVE: Evaluate the impact of the fortification of food with folic acid on prevalence trends for neural tube defects (NTD) and the infant mortality rate (IMR) associated with this disorder in Costa Rica. METHODS: The surveillance data from the Congenital Disease Registry Center and the Central American Population Center were analyzed. The neural tube defects considered were anencephaly, spina bifida, and encephalocele. The trends from 1987-2009, as well as the differences in prevalence and mortality rates prior to and up to 12 years after food fortification with folic acid, were examined (95 percent confidence interval [CI]). The contribution of fortification to the decrease in the overall IMR was determined. RESULTS: During 1987-1997, prior to the period of food fortification with folic acid, NTD prevalence was 12/10 000 births (95 percent CI: 11.1-12.8), whereas in 2009 prevalence was 5.1/10 000 births (3.3-6.5). The IMR associated with NTD was 0.64/1 000 births (46-0.82) in 1997 and 0.19/1 000 births (0.09-9.3) in 2009. There were significant decreases in the IMR associated with NTD and the prevalence of NTD: 71 percent, and 58 percent, respectively (P < 0.05). The overall IMR decreased from 14.2/1 000 births in 1997 to 8.84/1 000 births in 2009 (P < 0.05). The decrease in the IMR associated with NTD contributed to an 8.8 percent decrease in the overall IMR from 1997 to 2009. CONCLUSIONS: Food fortification with folic acid caused a decrease in NTD at birth and the IMR associated with this malformation during the 1997-2009 period. It also led to a decrease in the overall IMR. There is a temporal relationship between the introduction of fortification policies and the decrease in prevalence and mortality associated with NTD. This intervention should be promoted in Latin American and Caribbean countries where it has not yet been implemented.
Assuntos
Humanos , Animais , Masculino , Feminino , Recém-Nascido , Ácido Fólico/administração & dosagem , Alimentos Fortificados , Defeitos do Tubo Neural/prevenção & controle , Anencefalia/epidemiologia , Anencefalia/mortalidade , Anencefalia/prevenção & controle , Costa Rica/epidemiologia , Encefalocele/epidemiologia , Encefalocele/mortalidade , Encefalocele/prevenção & controle , Farinha , Leite , Morbidade/tendências , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/mortalidade , Oryza , Prevalência , Sistema de Registros , Estudos Retrospectivos , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/mortalidade , Disrafismo Espinal/prevenção & controleRESUMO
Objetivos. Analizar la mortalidad por defectos en el cierre del tubo neural (DTN) en niños menores de 5 años de edad, en México de 1998 a 2006 en municipios prioritarios y compararla con la relativa a defectos al nacimiento (DAN). Material y métodos. Las fuentes de datos fueron la Secretaría de Salud y el Instituto Nacional de Estadística, Geografía e Informática. Se utilizó el análisis espacial para la selección de municipios y los criterios se basaron en percentiles. Resultados. Las defunciones por DTN representaron entre 39.63 y 56.91 por ciento de los defectos del sistema nervioso y disminuyeron 53 por ciento. La tasa descendió 59 por ciento. De las muertes, entre 86 y 93 por ciento correspondieron a menores de 5 años. La tasa en menores de 1 año descendió 51 por ciento; en los de 1 a 4 años, 60 por ciento. 205 municipios resultaron de alta prioridad, concentrando 63.23 por ciento de fallecimientos. El índice Kappa entre municipios prioritarios DAN/DTN fue 0.75. Conclusión. En los municipios seleccionados se deben enfatizar las acciones contra los DTN.
Objectives. To analyze mortality due to neural-tube defects (NTD) in children under 5 years of age, 1998-2006 and select priority municipalities and compare them to those selected for birth defects (BD). Materials and Methods. Sources of data were the Secretary of Health and the National Institute of Statistics and Geography. Spatial analysis was used to select municipalities and criteria were based on percentiles. Results. Deaths due to NTD represented 39.63 percent - 56.91 percent of nervous system defects and decreased 53 percent; the rate decreased 59 percent. Regarding deaths, 86-93 percent occurred in children under 5 years of age. The rate for children under 1 year of age decreased 51 percent, and 60 percent for 1-4 years of age. A total of 205 municipalities resulted in being high priority, where 63.23 percent of deaths were concentrated. The Kappa index between BD/NTD priority municipalities was 0.75. Conclusion. Actions against NTD should be emphasized in the selected municipalities.
Assuntos
Pré-Escolar , Humanos , Lactente , Defeitos do Tubo Neural/mortalidade , México/epidemiologia , Fatores de TempoRESUMO
OBJECTIVES: To analyze mortality due to neural-tube defects (NTD) in children under 5 years of age, 1998-2006 and select priority municipalities and compare them to those selected for birth defects (BD). MATERIALS AND METHODS: Sources of data were the Secretary of Health and the National Institute of Statistics and Geography. Spatial analysis was used to select municipalities and criteria were based on percentiles. RESULTS: Deaths due to NTD represented 39.63% - 56.91% of nervous system defects and decreased 53%; the rate decreased 59%. Regarding deaths, 86-93% occurred in children under 5 years of age. The rate for children under 1 year of age decreased 51%, and 60% for 1-4 years of age. A total of 205 municipalities resulted in being high priority, where 63.23% of deaths were concentrated. The Kappa index between BD/NTD priority municipalities was 0.75. CONCLUSION: Actions against NTD should be emphasized in the selected municipalities.
Assuntos
Defeitos do Tubo Neural/mortalidade , Pré-Escolar , Humanos , Lactente , México/epidemiologia , Fatores de TempoRESUMO
Las malformaciones congénitas son un problema poco frecuente; considerando todas las malformaciones en conjunto, éstas se presentan en menos del 2 por ciento de los recién nacidos. Los defectos del cierre del tubo neural: anencefalia, espina bifida, acrania y meningocele, al igual que la mayoría de las malformaciones congénitas, son un grupo de afecciones de etiología multifactorial, producto de la interacción de factores genéticos y ambientales. Los factores genéticos actúan en un sistema poligenético, en el que se tienen que considerar los riesgos de recurrencia, cálculos de heredabilidad, la frecuencia de consanguineidad y las variaciones raciales, los factores ambientales, las infecciones virales, agentes físicos como la hipertemia (fiebre), deficiencia o alteraciones del metabolismo del ácido fólico, así como la exposición a diversas substancias químicas.
Assuntos
Humanos , Adulto , Feminino , Recém-Nascido , Ácido Fólico/genética , Anormalidades Congênitas/genética , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/mortalidade , Defeitos do Tubo Neural/patologia , Desenvolvimento Embrionário/genética , Disrafismo Espinal/patologia , Feto/anormalidades , Sistema Nervoso Central/embriologia , Ultrassonografia , Anencefalia/genética , Anencefalia/mortalidade , Compostos Químicos/efeitos adversos , Encéfalo/anormalidades , Ginecologia , Misoprostol/farmacologia , Obstetrícia , Placa Neural/anormalidadesRESUMO
OBJECTIVE: To describe the mortality due to neural tube defects (NTD) in Mexico for the 1980-1997 period. MATERIAL AND METHODS: The annual NTD mortality rates per 10000 liveborn infants were calculated by state and for the country. The time trend was evaluated with the annual percent change (APC) obtained using a Poisson regression model. The NTD mortality ratio was calculated using the average national rate as reference. NTD mortality rates and ratios were graphically displayed on maps. RESULTS: During the 1980-1997 period the gross NTD mortality rate was 5.8 per 10000 live-born infants. Anencephaly (International Classification of Diseases ICD-9 740.0) was the most frequent type of NTD (37.7%), followed by spina bifida without hydrocephaly (CIE9 741.9) (31.6%). The national trend of NTD mortality increased between 1980 and 1990 (APC 7.5 95% CI 6.5, 8.6) and decreased between 1990 and 1997 (APC-2.3 95% CI-3.6, -0.9). CONCLUSIONS: The high NTD mortality rates were related to the high frequency of anencephaly. Also, the increase observed is not only attributable to diagnostic factors or to improved reporting. In Mexico, the influence of some NTD-associated factors such as specific genetic polymorphisms, folic acid deficit, maternal obesity, occupational exposure to pesticides, and poverty, should be assessed in specific studies.
Assuntos
Defeitos do Tubo Neural/mortalidade , Humanos , Recém-Nascido , México/epidemiologiaRESUMO
OBJETIVO: Describir la mortalidad en México por defectos del tubo neural, durante el periodo 1980-1997. MATERIAL Y MÉTODOS: Las tasas anuales de mortalidad estatales y nacionales, por defectos del tubo neural, se calcularon por 10 000 nacidos vivos. La tendencia temporal fue evaluada por el porcentaje de cambio anual obtenido mediante un modelo de regresión de Poisson. Se calculó la razón de mortalidad, tomando la media nacional como referencia. Las tasas y las razones se representaron gráficamente en mapas. RESULTADOS: Durante el periodo la tasa bruta de mortalidad por defectos del tubo neural fue de 5.8 por 10 000 nacidos vivos. La anencefalia fue el tipo de defecto más frecuente (37.7 por ciento), seguida de la espina bífida sin hidrocefalia (31.6 por ciento). La tendencia nacional de la mortalidad por defectos del tubo neural fue ascendente entre 1980 y 1990 (porcentaje de cambio anual 7.5 IC 95 por ciento 6.5, 8.6) y descendente entre 1990-1997 (porcentaje de cambio anual -2.3 IC 95 por ciento -3.6, -0.9). CONCLUSIONES: Las altas tasas de mortalidad por defectos del tubo neural fueron debidas principalmente a la elevada frecuencia de las anencefalias. El incremento observado parece no ser sólo atribuible a cuestiones puramente diagnósticas o de mejora en los registros. La influencia de factores asociados a estos defectos, como determinados polimorfismos genéticos, la deficiencia de ácido fólico, la obesidad materna, la exposición laboral a plaguicidas y la pobreza deberán evaluarse mediante estudios específicos
Assuntos
Humanos , Recém-Nascido , Defeitos do Tubo Neural/mortalidade , México/epidemiologiaRESUMO
OBJECTIVE: To calculate the risk of fetal death due to neural tube defects and estimate associated factors in the state of Hidalgo, Mexico. MATERIAL AND METHODS: Data were abstracted from death certificates registered during 1990-1995 in the state of Hidalgo, Mexico. The design was a proportional mortality study, which is considered as a variant of the case control design. Cases were deaths with any type of neural tube defect, and controls were fetal deaths due to other causes. RESULTS: A total of 3,673 fetal death certificates were analyzed; 8.06% had neural tube defects and the remaining died of other causes. Fetal death was associated with fetal weight less than 2500 grams (OR 5.0, 95% CI 3.6-6.8), being female (OR 1.7, 95% CI 1.3-2.3), and death during the late fetal period (OR 5.5, 95% CI 3.8-8.1). CONCLUSIONS: Results show that the risk of fetal death due to neural tube defects is greater among low birth weight babies, females, and during the late fetal period.
Assuntos
Morte Fetal/epidemiologia , Defeitos do Tubo Neural/mortalidade , Adolescente , Adulto , Atestado de Óbito , Feminino , Morte Fetal/etiologia , Idade Gestacional , Humanos , Incidência , Recém-Nascido de Baixo Peso , Recém-Nascido , Masculino , Idade Materna , México/epidemiologia , Gravidez , Complicações na Gravidez/epidemiologia , Fatores de Risco , Fatores SocioeconômicosRESUMO
BACKGROUND: Neural tube defects (NTDs) have been associated with biochemical factors involved in the conversion of homocysteine to methionine as folate deficiency and the mutation 677T in the N(5),N(10)-methylenetetrahydrofolate reductase gene (MTHFR). METHODS: A case-control study was performed to detect this mutation in 38 unrelated women with NTD deceased products and 31 mothers without antecedents of NTD offspring. All products were born in Nuevo León (northeastern Mexico) during 1997. Erythrocyte and plasmatic folate levels and the genotype of the 677 polymorphism at the MTHFR locus were analyzed in both groups. RESULTS: Although no significant differences were found in mean blood folate levels, the percentage of women in the case group with erythrocyte folate levels <160 ng/mL was significantly higher than in the control group (75 vs. 51.2%, p <0.05). The proportion of women with plasma folate levels <3.5 ng/mL was higher in the case group (16.2 vs. 0%, p <0.01). Genotype analysis demonstrated a significantly higher proportion of 677T homozygous mothers with NTD products (39.6 vs. 9.1%, p <0.05). Allele frequencies for the 677T mutation were 0.55 and 0.36 for cases and controls, respectively. The odds ratio (OR) for having a NTD product was 6.1 (95%, CI 1.56-23.6) for homozygous 677T mothers vs. homozygous 677C and heterozygous mothers. Significantly low levels of erythrocyte folate were found in the 677C homozygous case group and in plasma folate in the 677C/677T heterozygous case mothers. CONCLUSIONS: Our study suggests that folate deficiency and MTHFR unfavorable genotype in mothers are important risk factors for severe NTD phenotype in our population.
Assuntos
Deficiência de Ácido Fólico/genética , Ácido Fólico/sangue , Defeitos do Tubo Neural/etiologia , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Complicações na Gravidez/enzimologia , Adulto , Alelos , Substituição de Aminoácidos , Anencefalia/etiologia , Anencefalia/mortalidade , Estudos de Casos e Controles , Códon/genética , Análise Mutacional de DNA , Eritrócitos/química , Feminino , Deficiência de Ácido Fólico/enzimologia , Deficiência de Ácido Fólico/epidemiologia , Deficiência de Ácido Fólico/metabolismo , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Homocisteína/metabolismo , Humanos , Recém-Nascido , Masculino , Troca Materno-Fetal , Metilenotetra-Hidrofolato Redutase (NADPH2) , México/epidemiologia , Mutação de Sentido Incorreto , Defeitos do Tubo Neural/mortalidade , Gravidez , Resultado da Gravidez , Fatores de Risco , Disrafismo Espinal/etiologia , Disrafismo Espinal/mortalidadeRESUMO
The incidence of neural tube defects (NTDs) is about 1.3 cases per 1000 live births. The higher incidence of NTDs occurs among certain ethnic groups, and geographic areas. The fetal morbimortality is high and the treatment for those babies who live is expensive with pour quality of live. It is unclear what biochemical mechanism involving folate explain the relationship of this vitamin to the pathogenesis of NTDs. However elevated concentrations of homocysteine or decreased methionine concentrations could be interfere with closure of the neural tube. The pharmacologic periconceptional intake of 0.4-4.0 mg/day of folic acid reduces the risk of occurrent NTDs by approximately 40-75%. A relatively high dietary intake of folate may also reduce the risk.