Folate and Vitamin B12 Status in Women of Reproductive Age in Rural Haryana, India: Estimating Population-Based Prevalence for Neural Tube Defects.

BACKGROUND: Folate and vitamin B12 deficiencies in pregnant women are associated with increased risk for adverse maternal and infant health outcomes, including neural tube defects (NTDs). METHODS: A population-based cross-sectional survey was conducted in two rural areas in Ambala District, Haryana, India in 2017 to assess baseline folate and vitamin B12 status among women of reproductive age (WRA) and predict the prevalence of NTDs. We calculated the prevalence of folate and vitamin B12 deficiency and insufficiency by demographic characteristics among 775 non-pregnant, non-lactating WRA (18-49 years). Using red blood cell (RBC) folate distributions and an established Bayesian model, we predicted NTD prevalence. All analyses were conducted using SAS-callable SUDAAN Version 11.0.4 to account for complex survey design. RESULTS: Among WRA, 10.1% (95% CI: 7.9, 12.7) and 9.3% (95% CI: 7.4, 11.6) had serum (<7 nmol/L) and RBC folate (<305 nmol/L) deficiency, respectively. The prevalence of RBC folate insufficiency (<748 nmol/L) was 78.3% (95% CI: 75.0, 81.3) and the predicted NTD prevalence was 21.0 (95% uncertainly interval: 16.9, 25.9) per 10,000 live births. Prevalences of vitamin B12 deficiency (<200 pg/mL) and marginal deficiency (≥200 pg/mL and ≤300 pg/mL) were 57.7% (95% CI: 53.9, 61.4) and 23.5% (95% CI: 20.4, 26.9), respectively. CONCLUSIONS: The magnitude of folate insufficiency and vitamin B12 deficiency in this Northern Indian population is a substantial public health concern. The findings from the survey help establish the baseline against which results from future post-fortification surveys can be compared.

Maternal periconceptional exposure to drinking water disinfection by-products and neural tube defects in offspring.

BACKGROUND: Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification. METHODS: Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000-2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied. RESULTS: Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8-1.5 for all NTDs combined, 0.6-2.0 for spina bifida, and 0.7-1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7-1.1, 0.5-1.5, and 0.6-1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null. CONCLUSIONS: Using community- and individual-level data from a large, US, population-based, case-control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.

Prevalence and associated factors of congenital anomalies in Ethiopia: A systematic review and meta-analysis.

BACKGROUND: Congenital anomalies represent a significant contributor to infant mortality, morbidity, and enduring disability. With this in mind, the present investigation endeavour to ascertain the pooled prevalence of congenital anomalies and associated determinants among neonates in Ethiopia. METHOD: PubMed, Google Scholar, CINAHAL, Hinari, and Global Health databases were systematically searched. Joanna Briggs Institute (JBI) assessment checklist was used to assess quality of included studies. Data were extracted from database and exported to stataMP-17 for analysis. Pooled prevalence was determined using DerSimonian-Laird random effects model. The degree of heterogeneity and Publication bias were assessed using I2 statistics and Eggers test, respectively. Study protocol was registered under PROSPERO ID CRD42021229140. RESULT: A total of 18 studies with 519,327 participants were included in the study. Pooled prevalence of congenital anomalies in Ethiopia was 2% (95% CI: 0.02, 0.03%). Among affected newborns neural tube defect (48%) was the most common congenital anomaly in Ethiopia, followed by orofacial cleft (19%). Risk factors such as alcohol consumption (pooled OR: 2.28, 95% CI: 1.54, 3.38), lack of folic acid supplement (pooled OR: 2.83, 95% CI: 1.09-7.36), medication during pregnancy (pooled OR: 2.58, 95% CI: 1.03-6.47), khat (Catha edulis) chewing (pooled OR: 2.44, 95% CI: 1.61-3.71), exposure to pesticides (pooled OR: 4.45, 95% CI: 2.44-8.09) and maternal illness (pooled OR:1.79, 95% CI: 1.03, 3.10) had statistically significant association with congenital anomalies in Ethiopia. CONCLUSION: In this review, prevalence of congenital anomalies in Ethiopia was high with considerable regional variation. The most common type of congenital anomaly in Ethiopia was neural tube defects, followed by oro-facial cleft. Alcohol consumption, inadequate intake of folic acid, khat chewing, maternal diseases, exposure to pesticides, and use of medication during pregnancy were identified as potential contributors to congenital abnormalities in Ethiopia.

Incidence of tethered cord syndrome in neurofibromatosis types 1 and 2 pediatric patients: a population-level analysis.

PURPOSE: Tethered spinal cord syndrome (TCS) is characterized by cutaneous attachments on the filum terminale that stretch the spinal cord, leading to musculoskeletal and urogenital sequelae. While the neurocutaneous associations with TCS remain undefined, a recent study reports a high incidence of TCS among a pediatric neurofibromatosis (NF) cohort. This present study utilizes a population-level database to estimate TCS incidence among pediatric patients with neurofibromatosis types 1 and 2 (NF1, NF2). METHODS: The TriNetX Research Network was queried to identify patients diagnosed with NF and/or TCS before the age of 21. Symptomatic TCS requiring surgical intervention was identified using corresponding procedural codes within 12 months following TCS diagnosis. Odds ratios (OR) were calculated to measure the associations of NF1/NF2 with TCS. RESULTS: 19,426 pediatric NF patients were evaluated (NF1: 18,383, NF2: 1042). The average ages of TCS diagnosis among NF1, NF2, and non-NF patients were 12, 16, and 9 years, respectively. The incidence of TCS was 1.2% in NF1 patients and 7.3% in NF2 patients, compared to 0.074% in the general population. The associations of NF incidence with TCS were significantly increased in both NF1 (OR 16.42; 14.38-18.76) and NF2 (OR 105.58; 83.56-133.40) patients compared to the general population. Symptomatic TCS requiring surgical intervention was not significantly associated with NF1/NF2 patients compared to the general TCS population. CONCLUSION: This analysis demonstrates a high incidence of TCS but delayed intervention in pediatric NF patients. Considering TCS counseling, spinal MRI, and earlier intervention may be warranted for NF patients experiencing musculoskeletal symptomatology.

Folate and vitamin B12 status and predicted neural tube defects risk among nonpregnant women of reproductive age from the Malawi National Micronutrient Survey, 2015-2016.

BACKGROUND: Maternal folate and vitamin B12 deficiency can lead to serious adverse pregnancy outcomes. There are no nationally representative estimates on folate and vitamin B12 status among women of reproductive age (WRA) in Malawi. OBJECTIVE: We assessed folate and vitamin B12 status among nonpregnant WRA in Malawi and predicted the risk of folate-sensitive neural tube defects (NTDs) were they to become pregnant. METHODS: Using data from the cross-sectional, nationally representative 2015-2016 Malawi Micronutrient Survey, we calculated the proportion of folate and vitamin B12 deficiency and insufficiency by demographic characteristics among 778 nonpregnant WRA (15-49 years). We predicted NTD prevalence using red blood cell (RBC) folate distributions and a published Bayesian model of the association between RBC folate and NTD risk. Analyses accounted for complex survey design. RESULTS: Among WRA, 8.5% (95% CI: 6.2, 11.6) and 13.3% (10.0, 17.4) had serum (<7 nmol/L) and RBC folate (<305 nmol/L) deficiency, respectively. The proportion of vitamin B12 deficiency (<148 pmol/L) and insufficiency (≤221 pmol/L) was 11.8% (8.6, 16.0) and 40.6% (34.1, 47.4), respectively. RBC folate insufficiency (<748 nmol/L, defined as the concentration associated with the threshold for elevated NTD risk: >8 cases per 10,000 births) was widespread: 81.4% (75.0, 86.4). The predicted NTD risk nationally was 24.7 cases per 10,000 live births. RBC folate insufficiency and higher predicted NTD risk were more common among WRA living in urban areas or with higher education. CONCLUSIONS: These findings highlight the importance of nutritional and NTD surveillance in Malawi and the opportunity for improving folate and vitamin B12 nutrition among Malawian WRA.

Cirugía bariátrica y embarazo: revisión de la literatura / Bariatric surgery and pregnancy: literature review

La obesidad ha logrado proporciones epidémicas en la actualidad, tanto en Chile como en el mundo. Esta patología se asocia a diversas complicaciones maternas en todas las etapas del ciclo vital y durante el embarazo. El tratamiento médico no ha logrado controlar esta patología, por lo que a pesar de no ser la primera línea, la cirugía bariátrica ha ido en aumento durante los últimos años. Esta revisión de la literatura pretende mostrar los resultados actuales del tratamiento quirúrgico en la mujer antes y durante el embarazo, respecto a la fertilidad, diabetes gestacional, preeclampsia e hipertensión transitoria del embarazo. Además aborda los posibles efectos de esta cirugía en el feto en desarrollo, y su relación con el parto prematuro, macrosomía fetal, bajo peso al nacer y defectos del tubo neural; así como también se refiere a los resultados materno-fetales, principalmente en el ámbito de la nutrición. Finalmente nos permitimos plantear recomendaciones importantes en relación al rol de la anticoncepción, la nutrición y el lapso entre la cirugía y el embarazo, sugeridas de esta revisión.

Obesity has currently reached epidemic proportions, both in Chile and in the world. This condition is associated to a variety of maternal complications in all stages of the vital cycle and during pregnancy. Medical treatment has not proved successful thus resulting in an increase in bariatric surgery in recent years, even when it is not first line treatment. This literature review aims to report updated results of surgical treatment for obesity before and during pregnancy with respect to fertility, gestational diabetes, pre-eclampsia and pregnancy-induced hypertension. It also looks into the possible effects of surgery on fetal development, and its relation to premature delivery, fetal macrosomy, low birth weight and neural tube defects, as well as effects on maternal and fetal outcomes, mainly in nutrition. Lastly, we suggest some recommendations that arise from this review on the role of contraception, nutrition and time between surgery and pregnancy.

Consumo de fumonisinas y daños a la salud humana / Fumonisin intake and human health

Las fumonisinas son una familia de micotoxinas que contaminan al maíz, alteran el metabolismo de los esfingolípidos y del folato, se asocian con defectos del tubo neural y están catalogadas por la Agencia Internacional de Investigación en Cáncer (IARC por sus siglas en inglés) como posibles carcinógenos humanos. Debido a que en México los derivados de maíz constituyen una parte importante de la dieta y existe alta prevalencia de población genéticamente susceptible a la deficiencia de folato, en este ensayo se presentan las evidencias mundiales y nacionales de la exposición a fumonisinas y la relevancia que para México representa la evaluación de esta exposición.

Fumonisins are mycotoxins that contaminate maize, disrupt the folate and sphingolipid metabolism, are associated with neural tube defects, and are considered by the International Agency for Research on Cancer (IARC) as possible human carcinogens. Since maize-based foods are significant components of the Mexican diet and there is a high prevalence of genetic susceptibility for folate deficiency among Mexicans, this essay presents international and national evidence of fumonisin exposure and the relevance that such exposure represents for Mexico.

Folatos y hierro en mujeres en edad fértil de una comunidad en Venezuela afectada por la incidencia de defectos del tubo neural / Folate and iron in fertile age women from a Venezuelan community affected by incidence of neural tube defects

El objetivo de este estudio transversal fue identificar el estado nutricional de folatos y hierro en mujeres en edad fértil del Municipio Jiménez, Estado Lara, Venezuela. El muestreo fue probabilístico por conglomerados del área urbana y rural, seleccionándose 15 conglomerados donde se estudiaron a las mujeres entre 12 y 45 años (269 mujeres). Previa firma del consentimiento informado, se les practicó: Encuesta con datos personales, antecedentes y variables relacionadas con folatos y hierro; datos socioeconómicos (Encuesta Graffar-Méndez Castellano y Necesidades Básicas Insatisfechas); en muestra de sangre se determinó Hemoglobina y Folato Eritrocitario (FE); en suero se determinó Ferritina, y Folato Sérico (FS). 53,53% de la muestra presentó valores bajos de FS, y el 10,78% valores deficientes. 80,7% presentó deficiencia severa según FE y 5,9% deficiencia moderada. En ambas pruebas, la media fue mayor en mujeres tratadas con Acido Fólico ó embarazadas (p=0,000) y la media del FE también resultó mayor en adultas que adolescentes (p=0,001) y en mujeres no pobres (p=0,011); no hubo diferencias significativas según ingesta de café, alcohol, anticonceptivos, procedencia, estrato social. La anemia se determinó en 11,2%, más frecuente en adultas (p=0,029) y en las del medio urbano (p=0,042). Ferritina baja se encontró en 37.3% de la muestra, las diferencias según variables no fueron significativas. En conclusión, la prevalencia de deficiencia de hierro y folatos en mujeres en edad fértil del Municipio Jiménez es alta, ésta podría constituir un factor condicionante de defectos del tubo neural, por lo cual deben ejecutarse estrategias para superar este déficit.

The objective of this transversal study was to determine folate and iron nutritional status of women in fertile age from Municipio Jiménez, Lara State, Venezuela. The sampling was probabilistic by conglomerates from the urban and rural areas, selecting 15 conglomerates from which women between 12 and 45 years (269), were studied. After signing informed consent, participating were interviewed for personal data, antecedents related to folate and iron, socioeconomic data (Graffar-Mendez Castellano method and unsatisfied basic needs). In blood sample was determined Hemoglobin, and Erythrocytic Folate (FE). Serum was obtained to determine Ferritin and Serum Folate (FS). 53,53% of the sample presented low FS levels, 10.78% were FS deficient. Severe FE deficiency was present in 80.7% of the cases, moderate deficiency affected 5,9%. For both tests, median was higher for women in treatment with Acido Fólico or pregnant (p=0,000), median for FE was higher for adults (p=0.001) and in non poor women (p=0.011). There were no significant differences for coffee, alcohol, anticonceptive consumption, urban or rural resident or socioeconomic strata. The prevalence of anemia was 11,2% being significantly more frequent in adults than in adolescents (p= 0,029) and in urban women (p=0,042). Low ferritin were found in 37,3% of the sample, the effect of different variables was not statistically significant. In conclusion, there is a high prevalence of iron and folate deficiencies in women of fertile age from Municipio Jiménez, which could constitute a conditioning factor for the appearance of neural tube defects.

Estudio sobre el inicio de la suplementación con ácido fólico en gestantes / Study on the start of folic acid supplementation in pregnancy

Objetivo: Conocer el momento en que se inicia la suplementación con ácido fólico en las mujeres gestantes y las que acuden a una visita preconcepcional. Sujetos y método: Estudio descriptivo y transversal de gestantes que acuden a su primera visita con la matrona para el seguimiento de su embarazo.Resultados: En el periodo de estudio se realizaron 567 primeras visitas de mujeres embarazadas. Se seleccionaron para el estudio 183 mujeres(32,3%). La primera visita con la matrona se realizó alrededor de la octava semana de gestación (desviación estándar [DE] ± 3). El 38,7% de las mujeres (n= 71) no habían iniciado la suplementación con ácido fólico en el momento de la primera visita. La cuarta semana de gestaciónes el promedio de inicio de toma de ácido fólico (DE ± 6,37). Un 26,8% (n= 49) de las mujeres inició la ingesta de ácido fólico durante el periodo recomendado. La fuente principal de información fue la matrona en un 51,3% (n= 94) de los casos; en el 42% (n= 77) de los casosla primera visita de embarazo con la matrona coincidió con el momento de información y el inicio de la suplementación con ácido fólico.Ninguna mujer había realizado visita preconcepcional.Conclusiones: La tasa de ingesta correcta de ácido fólico durante el embarazo en las mujeres de este estudio fue baja, aunque superior a la de otros estudios de prevalencia; la ingesta se inició como promedio en la cuarta semana de gestación. La principal fuente de información de consumo de ácido fólico era la matrona (51,3%), pero la primera visita se realizó alrededor de la octava semana de gestación, lo que retrasaba con frecuencia el inicio de la toma del suplemento (AU)

Objective: To determine when folic acid supplementation is started inpregnant women and in women who attend a preconception visit. Subjects and method: A descriptive and transversal study of pregnant women who attend their first visit with a midwife to monitor their pregnancies. Results: During the period of the study 567 first visits of pregnant women took place. Of the total, 183 women (32.3%) were selected forthe study. The first visit with the midwife took place around the eighthweek of pregnancy (standard deviation [SD] ± 3). Of the women, 38.7%(n= 71) had not started folic acid supplementation at the time of the first visit. The average starting point of folic acid supplementation was the fourth week of pregnancy (SD ± 6.37). Of the women, 26.8% (n=49) started taking folic acid during the recommended period. The midwife was the main source of information in 51.3% (n= 94) of the cases;in 42% (n= 77) of the cases the first pregnancy visit with the midwife coincided with the time at which the women received the informationand started the folic acid supplementation. None of the women had attended a preconception visit.Conclusions: The rate of correct folic acid supplementation during pregnancy in the women of this study was low, although it was higher than the rate in other prevalence studies; on average, the supplementation started during the fourth week of pregnancy. The main source of information regarding the consumption of folic acid was the midwife (51.3%), but the first visit took place around the eighth week of pregnancy, which in many cases delayed the start of the supplementation (AU)

Importancia de fortificar la harina de trigo con ácido fólico para prevenir defectos del tubo neural en Perú / Importance of fortifying wheat flour with folic acid to prevent neural tube defects in Peru

La etiología de los defectos del tubo neural (DTN) es multifactorial: interacción de factores ambientales, nutricionales, genéticos, étnicos o de causa desconocida. Se ha relacionado a los DTN con la deficiencia de folatos, cuyas causas son: a) ingesta inadecuada; b) absorción deficiente; c) aumento del consumo; y d) alteraciones en su utilización. Además de la dieta insuficiente hay otras situaciones que favorecen el déficit de folatos: el alcoholismo, las enfermedades intestinales y las interacciones medicamentosas. Esta revisión presenta un panorama sobre los DTN y resalta la importancia de fortificar la harina de trigo con ácido fólico para prevenirlos y muestra información actualizada sobre investigaciones relacionadas con la ingesta de folatos y los DTN en el Perú.

The aetiology of the DTN is multifactorial: environmental interaction, nutritional, genetic, ethnic factors or unknown cause. DTN has been related to the folate deficiency, with causes are: a) inadequate ingestion; inadequate absorption; c) consumption increase; and d) alterations in its use. Besides the insufficient diet, there are other situations to favor folate deficiency: alcoholism, intestinal diseases and medicical interactions. This review focus on DTN and emphasizes the importance of fortifying wheat flour with folic acid to prevent them and displays current information on ingestion of folates related to DTN in Peru.

Prevalência de defeitos de fechamento de tubo neural no Vale do Paraíba, São Paulo / Prevalence of neural tube defects in Vale do Paraíba, São Paulo, Brazil

OBJETIVO: Estimar a prevalência de defeitos de fechamento do tubo neural no Vale do Paraíba paulista e identificar possíveis fatores maternos e neonatais associados a tais defeitos. MÉTODOS: Realizou-se um estudo transversal com dados secundários obtidos na Secretaria Estadual da Saúde referentes aos nascimentos ocorridos em 2004 no Vale do Paraíba paulista, que compreende 35 municípios e conta com população de 2 milhões de habitantes. Anencefalia, encefalocele e espina bífida (mielocele e mielomeningocele) foram considerados defeitos de fechamento do tubo neural. As variáveis maternas foram: idade, escolaridade, cor da pele, número de consultas no pré-natal, número de filhos vivos e relato de óbito fetal prévio. As variáveis relativas ao recém-nascido foram: peso, idade gestacional e escore de Apgar. Realizou-se comparação das médias por meio do teste t de Student e obtiveram-se os valores das razões de chance com intervalos de confiança de 95%. RESULTADOS: Foram analisados 33.653 nascidos vivos. Trinta e oito recém-nascidos com o defeito foram encontrados (1,13/1.000 nascidos vivos), sendo 23 casos de espina bífida. Houve associação com baixo peso ao nascimento, prematuridade e menores escores de Apgar de cinco minutos. CONCLUSÕES: A prevalência desta anomalia foi inferior à de outros estudos nacionais e sua presença esteve associada ao baixo peso, à prematuridade e à baixa vitalidade ao nascer.

OBJECTIVE: To estimate the prevalence of neural tube defects in Vale do Paraíba, São Paulo, Brazil, and to identify possible maternal and neonatal variables associated with these defects. METHODS: This cross-sectional study used secondary records of the Health Department of São Paulo State related live births during 2004 in Vale do Paraíba, São Paulo, Brazil. This region has 35 cities and 2 million inhabitants. Anencephaly, encephalocele and spina bifida (myelocele and myelomeningocele) were considered as neural tube defects. The following maternal variables were analyzed: age, educational level, race, number of born alive and stillborn infants and prenatal visits. Neonatal variables were: birth weight, gestational age and Apgar score. Numerical variables were compared by Student t test, and Odds Ratio values were obtained with the 95%confidence interval. RESULTS: The analysis was performed based on 33,653 records of born alive infants. Twenty-three infants with spina bifida were identified, with an estimated prevalence of 1.13 cases for each 1,000 live births. The presence of neural tube defects was associated to low birth weight, prematurity and low Apgar score. CONCLUSIONS: The estimated prevalence of neural tube defects in this region of São Paulo was lower than others reported in previous Brazilian studies. These defects were associated with low birth weight, prematurity and respiratory depression at birth.

Edad materna y defectos del tubo neural: evidencia para un efecto mayor en espina bífida que anencefalia / Influence of maternal age on the risk for neural tube defects, a meta analysis

Background: Recent evidence from birth order data suggest that maternal factors can differently influence anencephaly and spina bifida. Aim: To study the influence of maternal age on the risk for neural tube defects. Material and methods: A meta-analysis of published data on neural tube defects (NTDs) was carried out to determine whether there is an increased risk to have a child with NTDs for younger and older mothers and if this risk differs depending on the type of NTD. All data available with information regarding the frequency of live births and NTDs cases by maternal age (five- or ten-year intervals) were included in the analysis. Effect sizes calculations were performed. Results: The analysis supports the hypothesis that there is an increased risk of having an offspring with NTDs for mothers 40 years of age or older. However, this effect is stronger for spina bifida than for anencephaly. There is also evidence that mothers 19 years old or younger have a higher risk for having a child with spina bifida. Conclusions: Maternal age influences the risk of having an offspring with neural tube defects.

Disminución de la incidencia de defectos de cierre del tubo neural en el hospital Universitario de Neiva: posible efecto de la promoción del consumo de ácido fólico / Low incidence of congenital neural tube efects at the Neiva University Hospital: possible effect of folic acid supplementation

Los defectos del tubo neural (DTN) son defectos de nacimiento, del cerebro o la médula espinal, los cuales llevan a la muerte o a la discapacidad. Las causas de los DTN son desconocidas. Se piensa que ocurren por una interacción de factores genéticos y ambientales. En 1997, se observó un significativo aumento en la incidencia de defectos del tubo neural en el Hospital Universitario de Neiva (p=0,035), respecto al año anterior. El primer esfuerzo de control consistió en promover el consumo de ácido fólico siguiendo las recomendaciones universales de suplementación y fortificación (CDC Folic Acid Resource Guide) En este estudio se evaluó la incidencia de los DTN durante 1998, como posible indicador del impacto de las medidas tomadas. Se identificaron los nacidos DTN, los nacidos con síndrome de Down o con labio o paladar hendido, la proporción de abortos y la de nacidos muertos. La tasa de DTN disminuyó en forma significativa (p=0,024) respecto a 1997 y su diferencia con la tasa de Latinomérica no fue significativa (p=0,526). Se concluyó que la incidencia fue menor 1998 y regresó a la tasa esperada para la región. Aunque se desconoce la causa del descenso, es posible que sea el resultado de la divulgación de los beneficios de una buena nutrición materna, la suplementación progestacional con ácido fólico, la fortificación de la harina de trigo, o una sumatoria de todas las medidas. Se recomienda desarrollar un estudio de actitudes y prácticas sobre el uso de ácido fólico en la población de mujeres de Neiva en edad fértil y establecer un protocolo de vigilancia activada de los DTN

Importancia del ácido fólico en la medicina actual / The importance of folic acid in present medicine

Lately, folic acid deficiency is gaining a predominant role in the pathogenesis of congenital malformations and cardiovascular diseases in adults. The planning of individual and population preventive strategies for these diseases must consider this deficiency. This paper reviews the anatomical, biochemical and molecular bases of neural tube defects and cardiovascular diseases in adults. In these two frequent diseases, folic acid supplementation has shown a clear cut protective effect

Prevención primaria de malformaciones congénitas / Primary prevention of congenital malformations

A medida que los países mejoran sus índices de salud, las malformaciones congénitas pasan a ocupar el primer lugar en las causas de mortalidad infantil. El énfasis en el tratamiento de las malformaciones congénitas debe hacerse con buenas estrategias de prevensión primaria. Al respecto, durante los últimos años el uso del ácido fólico ha adquirido un rol preponderante. El uso periconcepcional de ácido fólico ha mostrado un claro efecto protector en relación a algunas malformaciones congénitas frecuentes, especialmente en los defectos de cierre del tubo neural. Considerando la importancia de la prevención primaria en la morbimortalidad a cualquier edad, se ha considerado fundamental planificar estrategias de prevención aplicables en el ámbito individual y poblacional. Se presentan las bases embrionarias, anatómicas, bioquímicas y moleculares de los defectos de cierre del tubo neural y la importancia de iniciar estrategias a nivel poblacional que aseguren una ingesta suficiente de ácido fólico en las poblaciones objetivo

Defectos del cierre del tubo neural y retardo en el crecimiento intrauterino, búsqueda de asociación con el tipo anatómico y con la exposición a gripe y medicamentos / Risk factors associated to neural tube defects and intrauterine growth retardation

Introducción. Objetivo: determinar si la presencia de retardo en el crecimiento intrauterino (RCIU) en un grupo general de defectos del cierre del tubo neural (DTN, se asocia con la categoría particular de DTN y con la exposición a enfermedades, medicamentos y algunas variables sociodemográficas. Material y métodos. Se realizó un estudio transversal analítico en todos los neonatos con DTN, existentes en la base de datos que sobre malformaciones congénitas realiza la Universidad de Guadalajara. Se midió la asociación entre todas las categorías anatómicas de DTN con RCIU y defecto anatómico particular, edad de la madre, escolaridad, ocupación y exposición durante el primer trimestre del embarazo a enfermedades medicamentos. Resultados. De 272 sujetos con DTN, tuvieron información suficiente 223 registros (82 por ciento), 57 con DTN y RCIU y 166 con DTN sin RCIU. De las categorías anatómicas de DTN, la anencefalia se asoció fuertemente con RCIU (razón de momios = 7.8; intervalo de confianza a 95 por ciento = 3.8-16.3). El promedio de la edad de las madres de los neonatos con DTN y RCIU comparado con los RN con DTN sin RCIU fue diferente; y el riesgo de RCIU fue mayor del doble cuando las madres de los neonatos estudiados tuvieron una edad menor de 20 años. No se encontró asociación entre DTN y RCIU con la exposición durante el primer trimestre del embarazo a enfermedades y a medicamentos. Conclusiones. En este estudio se demostró la asociación de RCIU en neonatos con DTN en general con edad materna menor de 20 años y con enencefalia

Hiperhomocist(e)inemia / Hyperhomocyst(e)inemia

A través de numerosos datos derivados de observaciones epidemiológicas y experimentales, se ha establecido que existe una correlación positiva entre la hiperhomocist(e)inemia (HH(e)) y las enfermedades vasculares. Los datos clínicos confirman que la homocisteína (Hcy) es un factor de riesgo independiente de afecciones arteriales oclusivas (coronaria, cerebrovascular y periféricovascular) así como también trombosis venosa periférica. Este aminoácido contiene un sulfhidrilo y se forma por la desmetilación de la metionina. Es normalmente catalizado a cistationina por la enzima cistationina ß-sintetasa (CBS), dependiente de fosfato de piridoxal. Homocisteína también es remetilada a metionina por las enzimas 5-metiltetrahidrofolato-Hcy metiltransferasa (metionina sintetasa), dependiente de vitamina B12 y betaína-Hcy metiltransferasa. Estados nutricionales tales como deficiencias en vitamina B12, vitamina B6 o folato y defectos genéticos de las enzimas CBS o 5,10-metilentetrahidrofolato reductasa, pueden contribuir al aumento de los niveles plasmáticos de Hcy. La patogénesis del daño vascular inducido por Hcy puede ser multifactorial: daño directo sobre el endotelio, aumento de la peroxidación de lipoproteínas de baja densidad, incremento de tromboxano A2 plaquetario o menor activación de la proteína C. En el presente trabajo, se describen los más recientes estudios acerca de la patogénesis de la HH(e) y las implicancias para una óptima terapia

Hiperhomocist(e)inemia / Hyperhomocyst(e)inemia

A través de numerosos datos derivados de observaciones epidemiológicas y experimentales, se ha establecido que existe una correlación positiva entre la hiperhomocist(e)inemia (HH(e)) y las enfermedades vasculares. Los datos clínicos confirman que la homocisteína (Hcy) es un factor de riesgo independiente de afecciones arteriales oclusivas (coronaria, cerebrovascular y periféricovascular) así como también trombosis venosa periférica. Este aminoácido contiene un sulfhidrilo y se forma por la desmetilación de la metionina. Es normalmente catalizado a cistationina por la enzima cistationina ß-sintetasa (CBS), dependiente de fosfato de piridoxal. Homocisteína también es remetilada a metionina por las enzimas 5-metiltetrahidrofolato-Hcy metiltransferasa (metionina sintetasa), dependiente de vitamina B12 y betaína-Hcy metiltransferasa. Estados nutricionales tales como deficiencias en vitamina B12, vitamina B6 o folato y defectos genéticos de las enzimas CBS o 5,10-metilentetrahidrofolato reductasa, pueden contribuir al aumento de los niveles plasmáticos de Hcy. La patogénesis del daño vascular inducido por Hcy puede ser multifactorial: daño directo sobre el endotelio, aumento de la peroxidación de lipoproteínas de baja densidad, incremento de tromboxano A2 plaquetario o menor activación de la proteína C. En el presente trabajo, se describen los más recientes estudios acerca de la patogénesis de la HH(e) y las implicancias para una óptima terapia (AU)