ABSTRACT
BACKGROUND: Fetal deaths are a major source of information on the epidemiology of neural tube defects (NTDs; anencephaly and myelomeningocele). We analyzed NTDs prevalence and secular trend using fetal death records between 1994 and 2019 in Argentina. MATERIALS AND METHODS: Data were obtained from the Department of Statistics and Information of the Ministry of Health (DEIS). Using the number of fetal deaths due to anencephaly and myelomeningocele, we estimated the proportion of all fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) during pre- and post-fortification period in Argentina. We also estimated the ratio of fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) to 10,000 live births. Secular trend in the outcomes was analyzed using a Poisson model and Joinpoint regression analysis. RESULTS: In the entire period analyzed, the NTD proportion on fetal deaths was 1.32. In 1994, NTDs accounted for 34.7% of congenital malformations fetal deaths (CM) and 1.7% of all fetal deaths, whereas in 2019, these percentages were 9.4% and 0.5%, respectively. NTDs present a negative secular trend (p < .05). The risk of fetal death due to anencephaly and myelomeningocele decreases between 2005 and 2019 by 67% and 51% respectively (p < .05) in comparison to the period between 1994 and 2004 before the effective fortification of wheat flour used in the food industry destined for the domestic market. DISCUSSION AND CONCLUSION: We found a significant decrease in the risk of all fetal deaths due to NTDs, particularly anencephaly, in Argentina over the study period, with most reduction observed during the mandatory flour fortification era (introduced in Argentina in 2002). The inclusion of fetal deaths in NTD surveillance, coupled or uncoupled with other pregnancy outcomes, is essential for monitoring preventive supplementation measures.
Subject(s)
Anencephaly , Meningomyelocele , Neural Tube Defects , Pregnancy , Female , Humans , Anencephaly/epidemiology , Anencephaly/prevention & control , Folic Acid , Meningomyelocele/epidemiology , Prevalence , Flour , Argentina/epidemiology , Triticum , Neural Tube Defects/epidemiology , Neural Tube Defects/etiology , Neural Tube Defects/prevention & control , Fetal Death/etiologyABSTRACT
Congenital malformations are more frequently found among children born to mothers with diabetes than in the background population. There are several complex mechanisms involved in the development of congenital malformations in the offspring of mothers with hyperglycemia, such as the overexpression of glucose transporters (GLUTs) 1 and 2, the increased activity of the hexosamine biosynthetic pathway and the reduced expression of the PAX3 gene with a consequent increase in p53 protein expression. These alterations can lead to increased glucose and free radical concentrations in the embryo, thus promoting the process of apoptosis and causing malformation. The most frequent malformations found in the offspring of mothers with diabetes are heart and neural tube defects, urinary tract and kidney malformations, and cleft lip with or without cleft palate. Strict glycemic control should be obtained before and during pregnancy, aiming to avoid or minimize the risk of congenital malformations in the offspring. Beyond hyperglycemia, several factors may also be associated with increased risks of malformations in the offspring of these women, such as obesity, multiple pregnancies, advanced maternal age, folic acid deficiency, use of angiotensin converting enzyme inhibitors and angiotensin receptor blockers, assisted reproduction techniques, and exposure to different types of environmental pollutants.
Subject(s)
Hyperglycemia , Neural Tube Defects , Pregnancy , Child , Humans , Female , Neural Tube Defects/etiology , Hyperglycemia/complications , Obesity/complications , GlucoseABSTRACT
Background: Neural tube defects are a heterogeneous group of alterations of the central nervous system with multifactorial origin, mainly caused by a failure in the mechanisms of closure of the neural tube which involves skin, paravertebral muscles, connective tissue, bone and spinal cord. Clinical case: 36-year-old woman with a pregnancy of 25.3 weeks, corroborated by second trimester ultrasound. She had a previous pregnancy with anencephaly and a poor prenatal care in the actual pregnancy. An obstetric ultrasound was performed with the diagnosis of craniorachischisis, which is why the delivery was performed by vaginal birth with labor induction with prostaglandins. Conclusions: The craniorachischisis is a rare defect of the neural tube that must be diagnosed early because it is a pathology incompatible with life.
Introducción: los defectos del tubo neural son un grupo heterogéneo de alteraciones del sistema nervioso central, de origen multifactorial, principalmente ocasionados por una falla en los mecanismos de cierre del tubo neural, la cual involucra: piel, músculos paravertebrales, tejido conectivo, hueso y médula espinal. La craneorraquisquisis es la variante más grave y rara de los defectos del tubo neural. Caso clínico: Mujer de 36 años con un embarazo de 25.3 semanas, corroborado por ultrasonido del segundo trimestre, con el antecedente de un embarazo previo con anencefalia y mal control prenatal en el embarazo actual. Se le realizó un ultrasonido que diagnosticó craneorraquisquisis, por lo que se procedió a finalizar el embarazo por inducción de trabajo de aborto con prostaglandinas. Conclusiones: la craneorraquisquisis es un defecto raro del tubo neural que debe diagnosticarse tempranamente por ser una patología incompatible con la vida.
Subject(s)
Anencephaly , Neural Tube Defects , Adult , Anencephaly/complications , Central Nervous System , Female , Humans , Neural Tube Defects/etiology , Pregnancy , Ultrasonography, PrenatalABSTRACT
BACKGROUND: Dolutegravir has been widely available in Brazil since 2017. Following the signal that infants born to women with dolutegravir exposure at conception in Botswana had a higher risk of neural tube defects (NTDs), public health leaders initiated a national investigation to evaluate periconception dolutegravir exposure among all pregnant Brazilian women with HIV and its potential association with risk of NTDs, stillbirth, or miscarriage before 22 weeks (also called spontaneous abortion). METHODS: In this retrospective, observational, national, cohort study, we identified all women with pregnancies and possible dolutegravir exposure within 8 weeks of estimated date of conception between Jan 1, 2017, and May 31, 2018, and approximately 3:1 matched pregnant women exposed to efavirenz between Jan 1, 2015, and May 31, 2018, using the Brazilian antiretroviral therapy database. We did detailed chart reviews for identified women. The primary outcomes were NTD and a composite measure of NTD, stillbirth, or miscarriage. NTD incidences were calculated with 95% CI. The composite outcome was examined with logistic regression using propensity score matching weights to balance confounders. FINDINGS: Of 1427 included women, 382 were exposed to dolutegravir within 8 weeks of estimated date of conception. During pregnancy, 183 (48%) of 382 dolutegravir-exposed and 465 (44%) of 1045 efavirenz-exposed women received folic acid supplementation. There were 1452 birth outcomes. There were no NTDs in either dolutegravir-exposed (0, 95% CI 0-0·0010) or efavirenz-exposed groups (0, 95% CI 0-0·0036). There were 23 (6%) stillbirths or miscarriages in 384 dolutegravir-exposed fetuses and 28 (3%) in the 1068 efavirenz-exposed fetuses (p=0·0037). Logistic regression models did not consistently indicate an association between dolutegravir exposure and risk of stillbirths or miscarriages. After study closure, two confirmed NTD outcomes in fetuses with periconception dolutegravir exposure were reported to public health officials. An updated estimate of NTD incidence incorporating these cases and the estimated number of additional dolutegravir-exposed pregnancies between Jan 1, 2015 and Feb 28, 2019, is 0·0018 (95% CI 0·0005-0·0067). INTERPRETATION: Neither dolutegravir nor efavirenz exposure was associated with NTDs in our national cohort; incidence of NTDs is probably well under 1% in dolutegravir-exposed HIV-positive women but still slightly above HIV-uninfected women (0·06%) in Brazil. FUNDING: The Brazilian Ministry of Health and the United States' National Institutes of Health.
Subject(s)
HIV Infections/complications , HIV Integrase Inhibitors/adverse effects , Heterocyclic Compounds, 3-Ring/adverse effects , Neural Tube Defects/etiology , Oxazines/adverse effects , Piperazines/adverse effects , Pyridones/adverse effects , Abortion, Spontaneous/epidemiology , Abortion, Spontaneous/etiology , Adult , Antiretroviral Therapy, Highly Active/adverse effects , Brazil/epidemiology , Comorbidity , Female , HIV Infections/drug therapy , HIV Infections/epidemiology , HIV Infections/virology , HIV Integrase Inhibitors/administration & dosage , HIV Integrase Inhibitors/therapeutic use , Heterocyclic Compounds, 3-Ring/administration & dosage , Heterocyclic Compounds, 3-Ring/therapeutic use , Humans , Neural Tube Defects/diagnosis , Neural Tube Defects/epidemiology , Oxazines/administration & dosage , Oxazines/therapeutic use , Piperazines/administration & dosage , Piperazines/therapeutic use , Pregnancy , Pregnancy Outcome , Pyridones/administration & dosage , Pyridones/therapeutic use , Retrospective Studies , Stillbirth , Young AdultABSTRACT
We determine the prevalence and trends of open neural tube defects (ONTDs) during 1991 to 2019 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Mexico). Also, details of potential risks were obtained in 662 newborns, including those 143 patients with anencephaly and open spina bifida (OSB) classified as isolated (cases) and 519 controls. Data were analyzed using multivariable logistic regression. Among 267 201 live births during the study period, 336 were born with ONTDs, yielding an overall prevalence of 12.6 per 10 000. After folic acid (FA)-related programs began in Mexico (2003-2019), only OSB showed a decline of 20.6%. For anencephaly, associated risks included relatives with neural tube defects (NTDs) (adjusted odds ratio [aOR]: 67.9, 95% confidence interval [95% CI]: 11.3-409.8), pre-pregnancy body mass index (BMI) ≥25 kg/m2 (aOR: 2.6, 95% CI: 1.1-6.0), insufficient gestational weight gain (aOR: 3.0, 95% CI: 1.3-7.1), parity ≥4 (aOR: 3.2, 95% CI: 1.3-7.7), and exposure to analgesic/antipyretic drugs (aOR: 9.0; 95% CI: 2.5-33.0). For OSB, associated risks included consanguinity (aOR: 14.0, 95% CI: 3.5-55.9), relatives with NTDs (aOR: 22.4, 95% CI: 4.5-112.9), BMI ≥25 kg/m2 (aOR: 2.5, 95% CI: 1.6-4.2), insufficient gestational weight gain (aOR: 1.9, 95% CI: 1.1-3.1), and exposures to hyperthermia (aOR: 2.3, 95% CI: 1.2-4.3), common cold (aOR: 6.8, 95% CI: 3.6-12.7), and analgesic/antipyretic drugs (aOR: 3.6, 95% CI: 1.3-10.0). Our high rate probably results from exposures to preventable risks, most related to FA, indicating a need for strengthening existing FA-related programs in Mexico.
Subject(s)
Anencephaly/epidemiology , Neural Tube Defects/epidemiology , Spinal Dysraphism/epidemiology , Adult , Anencephaly/etiology , Case-Control Studies , Female , Humans , Live Birth , Male , Mexico/epidemiology , Neural Tube Defects/etiology , Population Surveillance , Prevalence , Registries , Risk Assessment , Risk Factors , Spinal Dysraphism/etiology , Young AdultABSTRACT
OBJECTIVE: To determine if the fortification of wheat and maize flours with iron and folic acid - which became mandatory in Brazil from June 2004 - is effective in the prevention of neural tube defects. METHODS: Using data from national information systems on births in central, south-eastern and southern Brazil, we determined the prevalence of neural tube defects among live births and stillbirths in a pre-fortification period - i.e. 2001-2004 - and in a post-fortification period - i.e. 2005-2014. We distinguished between anencephaly, encephalocele, meningocele, myelomeningocele and other forms of spina bifida. FINDINGS: There were 8554 neural tube defects for 17,925,729 live births notified between 2001 and 2014. For the same period, 2673 neural tube defects were reported for 194,858 stillbirths. The overall prevalence of neural tube defects fell from 0.79 per 1000 pre-fortification to 0.55 per 1000 post-fortification (prevalence ratio, PR: 1.43; 95% confidence interval, CI: 1.38-1.50). For stillbirths, prevalence fell from 17.74 per 1000 stillbirths pre-fortification to 11.70 per 1000 stillbirths post-fortification. The corresponding values among live births were 0.57 and 0.44, respectively. CONCLUSION: The introduction of the mandatory fortification of flour with iron and folic acid in Brazil was followed by a significant reduction in the prevalence of neural tube defects in our study area.
Subject(s)
Flour , Folic Acid Deficiency/prevention & control , Folic Acid/administration & dosage , Food, Fortified , Neural Tube Defects/prevention & control , Stillbirth/epidemiology , Adult , Brazil/epidemiology , Female , Folic Acid Deficiency/complications , Humans , Incidence , Infant, Newborn , Legislation, Food , Male , Maternal Age , Neural Tube Defects/epidemiology , Neural Tube Defects/etiology , Pregnancy , Prevalence , Retrospective Studies , Sex Distribution , Young AdultABSTRACT
Jarcho-Levin syndrome (JLS) is a rare axial skeletal growth disorder characterized by the presence of multi-level costovertebral malformations, a short neck, a short trunk, and kyphoscoliosis at birth. Neural tube defects appear to be common findings in patients with JLS, and chest hypoplasia frequently leads to respiratory insufficiency and death in early childhood. There have been no previous studies in the literature on the anesthetic management of JLS with neural tube defects and hydrocephalus. Therefore, we have reported a case of JLS in a female full-term newborn, who underwent surgery for myelomeningocele repair and ventriculoperitoneal shunting, with the associated anesthetic challenges and their management.
Subject(s)
Abnormalities, Multiple/surgery , Anesthetics/administration & dosage , Hernia, Diaphragmatic/surgery , Meningomyelocele/surgery , Neural Tube Defects/etiology , Abnormalities, Multiple/physiopathology , Female , Hernia, Diaphragmatic/physiopathology , Humans , Hydrocephalus/etiology , Hydrocephalus/surgery , Infant, Newborn , Meningomyelocele/etiology , Ventriculoperitoneal Shunt/methodsABSTRACT
BACKGROUND: Timing of surgical treatment for tethered cord syndrome due to a lipomyelomeningocele (LMM) has been controversial. The purpose of this study was to evaluate populations of patients treated surgically for LMM in a meta-analysis in order to better understand how outcomes differ based on follow-up time, symptomatology, and LMM classification. METHODS: An extensive search on PubMed and Google Scholar was performed for LMM and surgical outcomes to identify case series of patients for inclusion in this analysis. Patients were sorted based upon symptomatology prior to surgery and Chapman's LMM classification, where possible. Deterioration rates were determined by symptomatic retethering of the spinal cord that led to repeat surgery. RESULTS: Of 608 (19 %) patients, 115 were included in the study experienced deterioration leading to repeat surgery. Symptomatic and asymptomatic patients did not experience significantly different rates of deterioration after surgical untethering. There was a significant positive linear correlation between follow-up time of studies and percentage of patients deteriorating with an increase of 3.3 % per year of follow-up. Transitional LMM had a significantly higher rate of deterioration compared to the caudal type along with the entire patient pool. CONCLUSIONS: Outcomes of primary surgical treatment in regard to late deterioration are not significantly affected by patient symptomatology. Patient deterioration increases linearly over time. Additional studies should be performed to adequately determine the natural history of asymptomatic patients that are treated conservatively for LMM.
Subject(s)
Meningomyelocele/surgery , Neural Tube Defects/etiology , Neurosurgical Procedures/adverse effects , Postoperative Complications/physiopathology , Spinal Cord/surgery , Humans , Treatment OutcomeABSTRACT
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.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Bariatric Surgery/adverse effects , Pregnancy Complications/etiology , Obesity/surgery , Cesarean Section , Diabetes, Gestational , Neural Tube Defects/etiology , Fertility , Obstetric Labor, Premature , Obesity/complications , Pregnancy Outcome , Pre-Eclampsia/etiology , Weight LossABSTRACT
BACKGROUND: Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130 different abnormalities have been described in these patients-among them are neural tube defects. METHODS: We verified the frequency and types of major neural tube defects observed among patients with trisomy 18. Our sample consisted of consecutive patients evaluated by a clinical genetics service of a referral hospital in southern Brazil between 1975 and 2008. Fisher's exact test (two-tailed) and chi-square test with Yates' correction were used to compare frequencies (P < 0.05 values were considered as significant). RESULTS: During the period of evaluation, we identified 50 patients with trisomy 18; 33 (66%) were female and age at the first evaluation ranged from 1 day to 16 years (median 14 days). One cell line with full trisomy 18 was the predominant cytogenetic finding (90%). Three patients (6%) had major neural tube defects, all females. These were two patients (4%) with encephaloceles and one (2%) with myelomeningocele. This last patient undergo to correction surgery on her first day of life. CONCLUSIONS: Our data, in accordance with the literature, support the idea that the presence of neural tube defects among patients with trisomy 18 is not coincidental (i.e., these defects are actually part of the spectrum of abnormalities presented in trisomy 18). Thus, the diagnosis of trisomy 18 should be considered in children with major neural tube defects, especially in the presence of other abnormalities or dysmorphisms.
Subject(s)
Neural Tube Defects/etiology , Neural Tube Defects/genetics , Trisomy/physiopathology , Adolescent , Brazil , Chi-Square Distribution , Child , Child, Preschool , Chromosomes, Human, Pair 18 , Female , Humans , Infant , Infant, Newborn , Male , Retrospective Studies , Trisomy 18 SyndromeABSTRACT
BACKGROUND: Neural tube defects (NTD) involve disruptions in the axial mesenchyme, and are related to an imbalance between folic acid (FA) and homocysteine (Hcy). This study evaluated the effects of FA/Hcy imbalance on cell proliferation and expression of the Pax 1/9 and Sox 9 gene products in the axial mesenchyme of chickens. METHODS: Embryos were incubated (38°C) and pretreated at 24 h and treated at 46 h of incubation. The experimental groups were: FA-pretreated with saline and treated with 0.5 µg FA/saline; Hcy-pretreated with 50 µl saline and treated with 20 µmol D,L-Hcy/50 µl saline; FA+Hcy-pretreated with 0.5 µg FA/50 µl saline and treated with 20 µmol D,L-Hcy/50 µl saline; and the control embryos were pretreated and treated with saline. Embryos were analyzed at E4 and E6. Immunohistochemistry was performed to identify proliferating cells and the expression of the gene products of Pax 1/9 and Sox 9. Total RNA of the E4 embryos was extracted and a RT-qPCR assay was performed to quantify Pax 1/9 mRNA expression. RESULTS: Hcy treatment caused spinal NTD and abnormalities in axial mesenchyme development, affecting the distribution of sclerotomal cells and chondrification. Hcy also reduced cell proliferation and changed the expression of Pax 1/9 and Sox 9 in the mesenchyme. CONCLUSIONS: Our data clarified the relationship between spinal NTD genesis and disruptions of Pax 1/9 and Sox 9 gene products in the axial mesenchyme caused by the FA/Hcy imbalance.
Subject(s)
Cell Proliferation/drug effects , Folic Acid Deficiency/blood , Gene Expression Regulation, Developmental/physiology , Homocysteine/blood , Mesoderm/metabolism , Neural Tube Defects/etiology , Analysis of Variance , Animals , Chick Embryo , DNA Primers/genetics , Gene Expression Regulation, Developmental/drug effects , Homocysteine/administration & dosage , Homocysteine/pharmacology , Immunohistochemistry , Neural Tube Defects/metabolism , Neural Tube Defects/pathology , PAX9 Transcription Factor/metabolism , Paired Box Transcription Factors/metabolism , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
We reviewed the published findings from the Texas Neural Tube Defect Project, a 6-year case-control study (1995-2000) of neural tube defects (NTDs) on the Texas-Mexico border. In this review, we highlight what was learned about environmental, genetic, and nutritional factors (i.e., those related to the folate and other metabolic pathways) and the novel putative risk factors that emerged from this study of Mexican American women living on the Texas-Mexico border. Our investigations of the micronutrients and metabolic pathways involved confirmed the findings of other researchers that increased folate intake has a protective effect and that low serum B(12) , high serum homocysteine levels, and obesity independently contribute to risk. Studies of this population also have implicated hyperinsulinemia and low ferritin, metabolic risk factors, which require additional study to elucidate their physiologic mechanism. Environmental contaminants such as heavy metals, pesticides, and polychlorinated biphenyls (PCBs), which were of community concern, did little to explain NTD risk. Studies in this folic acid deficit-population also revealed several novel risk factors, namely, diarrhea, stress, fumonisins, and the combination of nitrosatable drug exposure with high nitrate/nitrite intake. In conclusion, the 23 studies among the Mexican American women living along the Texas-Mexico border have demonstrated the multifactorial nature of NTDs and that a population deficient in folic acid will be vulnerable to a variety of insults whether brought on by individual behaviors (e.g., obesity) or through the surrounding environment (e.g., fumonisins). Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc.
Subject(s)
Folic Acid/administration & dosage , Hispanic or Latino , Micronutrients/administration & dosage , Neural Tube Defects/epidemiology , Vitamins/administration & dosage , Adult , Body Mass Index , Case-Control Studies , Environmental Pollutants/toxicity , Female , Folic Acid/metabolism , Humans , Maternal Exposure , Micronutrients/metabolism , Neural Tube Defects/ethnology , Neural Tube Defects/etiology , Neural Tube Defects/metabolism , Pregnancy , Risk Factors , Texas/epidemiology , Vitamins/metabolismABSTRACT
Lowered maternal weight gain and reduction in early pregnancy have been associated with risk of neural tube defects (NTDs) in offspring. We examined the association of self-reported maternal dieting behaviors on the occurrence of NTDs. We conducted a population based case-control study among Mexican-American women who were residents of the 14 Texas counties bordering Mexico. Case women had an NTD-affected pregnancy identified at birth or prenatally and had deliveries during the years 1995-2000. Control women were those who delivered live born infants without an apparent congenital malformation, randomly selected and frequency-matched to cases by year and facility. One hundred eighty-four case women and 225 control women were asked in person about the use of nutritional supplements, dieting to lose weight, and type of weight reduction supplements used during the 3 months before conception. Women who reported being on a diet to lose weight during the 3 months before conception had an NTD odds ratio (OR) of 1.9 (95% confidence interval (CI) = 1.1, 3.3) compared with those not reporting being on a diet. Neither consuming vitamin drinks (OR = 1.2) nor using diet pills (OR = 1.6) during the 3 months before conception had ORs that were different from the null, when compared to women not reporting those behaviors. The risk effect for dieting did not differ markedly among normal or underweight (OR = 2.0, 95% CI = 0.7, 5.6), overweight (OR = 1.9, 95% CI = 0.7, 5.0), or obese women (OR = 1.5, 95% CI = 0.6, 4.0). No effect was seen among dieting women who were consuming at least 1.0 mg/day of folate (OR = 1.1, CI = 0.3, 4.5). Maternal dieting prior to conception may increase the risk of NTDs in offspring.
Subject(s)
Diet/adverse effects , Mexican Americans/statistics & numerical data , Neural Tube Defects/ethnology , Neural Tube Defects/etiology , Overweight/prevention & control , Adult , Case-Control Studies , Diet/ethnology , Female , Humans , Infant , Interviews as Topic , Population Surveillance , Pregnancy , Pregnancy Complications/epidemiology , Risk Factors , Socioeconomic Factors , Surveys and Questionnaires , Texas/epidemiology , Young AdultABSTRACT
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.
Subject(s)
Folic Acid/metabolism , Food Contamination , Fumonisins/adverse effects , Neural Tube Defects/etiology , Adolescent , Adult , Animals , Carcinogens, Environmental/adverse effects , Digestive System Neoplasms/chemically induced , Digestive System Neoplasms/epidemiology , Equidae , Female , Folate Receptor 2/antagonists & inhibitors , Fumonisins/chemistry , Fumonisins/pharmacokinetics , Fumonisins/toxicity , Homocystinuria/epidemiology , Homocystinuria/genetics , Humans , Kidney Tubular Necrosis, Acute/chemically induced , Leukoencephalopathies/chemically induced , Leukoencephalopathies/veterinary , Male , Membrane Transport Proteins/metabolism , Methylenetetrahydrofolate Reductase (NADPH2)/deficiency , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Mexico , Mice , Muscle Spasticity/epidemiology , Muscle Spasticity/genetics , Neural Tube Defects/chemically induced , Neural Tube Defects/epidemiology , Neural Tube Defects/genetics , Pregnancy , Psychotic Disorders/epidemiology , Psychotic Disorders/genetics , Rats , Sphingolipids/chemistry , Sphingolipids/metabolism , Swine , Teratogens/toxicity , Young Adult , Zea mays/microbiologyABSTRACT
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.
Subject(s)
Adolescent , Adult , Animals , Female , Humans , Male , Mice , Pregnancy , Rats , Young Adult , Folic Acid/metabolism , Food Contamination , Fumonisins/adverse effects , Neural Tube Defects/etiology , Carcinogens, Environmental/adverse effects , Digestive System Neoplasms/chemically induced , Digestive System Neoplasms/epidemiology , Equidae , /antagonists & inhibitors , Fumonisins/chemistry , Fumonisins/pharmacokinetics , Fumonisins/toxicity , Homocystinuria/epidemiology , Homocystinuria/genetics , Kidney Tubular Necrosis, Acute/chemically induced , Leukoencephalopathies/chemically induced , Leukoencephalopathies/veterinary , Membrane Transport Proteins/metabolism , /deficiency , /genetics , Mexico , Muscle Spasticity/epidemiology , Muscle Spasticity/genetics , Neural Tube Defects/chemically induced , Neural Tube Defects/epidemiology , Neural Tube Defects/genetics , Psychotic Disorders/epidemiology , Psychotic Disorders/genetics , Sphingolipids/chemistry , Sphingolipids/metabolism , Swine , Teratogens/toxicity , Young Adult , Zea mays/microbiologyABSTRACT
Association between neural tube defects (NTDs) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was suspected, because the MTHFR gene codes for a key enzyme in folate metabolism. Its deficiency usually leads to significant reductions in plasma concentrations of folate, vitamin B(12) and methionine, whereas homocysteine levels are increased. We examined folate, vitamin B(12) and homocysteine serum concentrations and polymorphism of the C677T MTHFR gene in Turkish children with neural tube defects. Thirty-three children with NTDs, 26 mothers and 48 healthy individuals were studied. C677T MTHFR polymorphism was determined by melting curve analyses (LightCycler). The levels of folate, vitamin B(12) and homocysteine serum concentrations in NTDs were evaluated and compared, along with information concerning alleles of the MTHFR gene. C677T allele frequencies in NTD children and their mothers were similar to those found in controls. Serum folate and vitamin B(12) concentrations were significantly higher in NTD children than that of controls. Serum homocysteine concentrations were not significantly higher in NTD children and mothers. We concluded that C677T MTHFR gene polymorphism does not affect folic acid, vitamin B(12) and homocysteine metabolism in Turkish children with NTDs. C677T polymorphism of the MTHFR gene cannot be regarded as a major risk factor for NTDs in Turkish children.
Subject(s)
Folic Acid/metabolism , Genetic Predisposition to Disease , Homocysteine/metabolism , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Neural Tube Defects/etiology , Neural Tube Defects/genetics , Polymorphism, Genetic , Vitamin B 12/metabolism , Adult , Alleles , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , TurkeyABSTRACT
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.