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1.
MMWR Morb Mortal Wkly Rep ; 69(1): 1-5, 2020 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-31917782

RESUMO

In May 2018, a study of birth defects in infants born to women with diagnosed human immunodeficiency virus (HIV) infection in Botswana reported an eightfold increased risk for neural tube defects (NTDs) among births with periconceptional exposure to antiretroviral therapy (ART) that included the integrase inhibitor dolutegravir (DTG) compared with other ART regimens (1). The World Health Organization* (WHO) and the U.S. Department of Health and Human Services† (HHS) promptly issued interim guidance limiting the initiation of DTG during early pregnancy and in women of childbearing age with HIV who desire pregnancy or are sexually active and not using effective contraception. On the basis of additional data, WHO now recommends DTG as a preferred treatment option for all populations, including women of childbearing age and pregnant women. Similarly, the U.S. recommendations currently state that DTG is a preferred antiretroviral drug throughout pregnancy (with provider-patient counseling) and as an alternative antiretroviral drug in women who are trying to conceive.§ Since 1981 and 1994, CDC has supported separate surveillance programs for HIV/acquired immunodeficiency syndrome (AIDS) (2) and birth defects (3) in state health departments. These two surveillance programs can inform public health programs and policy, linkage to care, and research activities. Because birth defects surveillance programs do not collect HIV status, and HIV surveillance programs do not routinely collect data on occurrence of birth defects, the related data have not been used by CDC to characterize birth defects in births to women with HIV. Data from these two programs were linked to estimate overall prevalence of NTDs and prevalence of NTDs in HIV-exposed pregnancies during 2013-2017 for 15 participating jurisdictions. Prevalence of NTDs in pregnancies among women with diagnosed HIV infection was 7.0 per 10,000 live births, similar to that among the general population in these 15 jurisdictions, and the U.S. estimate based on data from 24 states. Successful linking of data from birth defects and HIV/AIDS surveillance programs for pregnancies among women with diagnosed HIV infection suggests that similar data linkages might be used to characterize possible associations between maternal diseases or maternal use of medications, such as integrase strand transfer inhibitors used to manage HIV, and pregnancy outcomes. Although no difference in NTD prevalence in HIV-exposed pregnancies was found, data on the use of integrase strand transfer inhibitors in pregnancy are needed to understand the safety and risks of these drugs during pregnancy.


Assuntos
Infecções por HIV/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Complicações Infecciosas na Gravidez/diagnóstico , Adolescente , Adulto , Antirretrovirais/efeitos adversos , Antirretrovirais/uso terapêutico , Feminino , Infecções por HIV/tratamento farmacológico , Humanos , Recém-Nascido , Gravidez , Complicações Infecciosas na Gravidez/tratamento farmacológico , Estados Unidos/epidemiologia , Adulto Jovem
2.
Bratisl Lek Listy ; 120(9): 680-685, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31475554

RESUMO

OBJECTIVES: Neurenteric cysts (NCs) of the central nervous system (CNS) are cystic congenital lesions that may occur anywhere along the neural tube. They are most common in the spinal region, in the lower part of the cervical and upper thoracic spine. Intracranial NCs occur rarely and there are only small series of patients published in literature worldwide. Microsurgical resection is the treatment of choice. We present our experience in treatment of NCs and review of literature. METHODS: Seven patients with NC of CNS who were operated at the Department of Neurosurgery of Comenius University at University Hospital Bratislava within nine years (2010-2018) were included in the study. The series was retrospectively evaluated with an emphasis on symptomatology, surgery and postoperative course. RESULTS: In three of the seven patients, NC was localized intracranially, in the other four, NC was in the spinal canal. In three patients, a complete removal of NC was achieved (2 intracranial NC, 1 spinal NC). In other patients, a portion of the cyst wall was left to prevent the development of a postoperative neurological deficit. After surgery, the neurological symptoms were completely resolved in six patients, while in one patient, they were alleviated. In one patient, a complication occurred during the postoperatove course. There was no recurrence during the follow-up (3-111 months, mean duration 39 months). CONCLUSION: In our series of patients with intracranial and intraspinal tumors, the incidence of NC was higher than presented in the published data. Our own surgical experience has shown that complete tumor resection is not always possible for intimate adherence to the surrounding structures. Leaving a tiny portion of the cyst wall allowed us to achieve good clinical results with no recurrence. Long-term follow-up of patients is required due to the risk of recurrence. However, it can already be stated that an adequate extent of resection leads to good clinical results (Tab. 1, Fig. 4, Ref. 33).


Assuntos
Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/cirurgia , Humanos , Incidência , Procedimentos Neurocirúrgicos , Estudos Retrospectivos
3.
BMC Res Notes ; 12(1): 495, 2019 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-31399144

RESUMO

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


Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anormalidades Congênitas/epidemiologia , Anormalidades Musculoesqueléticas/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Adulto , Consumo de Bebidas Alcoólicas/efeitos adversos , Estudos de Casos e Controles , Fenda Labial/etiologia , Fenda Labial/prevenção & controle , Fissura Palatina/etiologia , Fissura Palatina/prevenção & controle , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/prevenção & controle , Países em Desenvolvimento , Suplementos Nutricionais , Etiópia/epidemiologia , Feminino , Febre/complicações , Ácido Fólico/administração & dosagem , Humanos , Lactente , Recém-Nascido , Masculino , Idade Materna , Anormalidades Musculoesqueléticas/etiologia , Anormalidades Musculoesqueléticas/prevenção & controle , Defeitos do Tubo Neural/etiologia , Defeitos do Tubo Neural/prevenção & controle , Parto , Gravidez , Encaminhamento e Consulta , Fatores de Risco , Estações do Ano , População Urbana
4.
J Pediatr Orthop ; 39(8): e608-e613, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31393300

RESUMO

BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. OUTCOME MEASURES: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. RESULTS: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. CONCLUSIONS: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities. LEVEL OF EVIDENCE: Level III.


Assuntos
Comunicação Interatrial/epidemiologia , Atresia Intestinal/epidemiologia , Anormalidades Musculoesqueléticas/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Escoliose/epidemiologia , Coluna Vertebral/anormalidades , Adolescente , Criança , Pré-Escolar , Comorbidade , Anormalidades Congênitas/epidemiologia , Bases de Dados Factuais , Humanos , Incidência , Lactente , Recém-Nascido , Intestino Grosso/anormalidades , Rim/anormalidades , Nefropatias/congênito , Nefropatias/epidemiologia , Síndrome de Klippel-Feil/epidemiologia , Prevalência , Estudos Retrospectivos , Adulto Jovem
6.
N Engl J Med ; 381(9): 827-840, 2019 08 29.
Artigo em Inglês | MEDLINE | ID: mdl-31329379

RESUMO

BACKGROUND: A preliminary safety signal for neural-tube defects was previously reported in association with dolutegravir exposure from the time of conception, which has affected choices of antiretroviral treatment (ART) for human immunodeficiency virus (HIV)-infected women of reproductive potential. The signal can now be evaluated with data from follow-up of additional pregnancies. METHODS: We conducted birth-outcomes surveillance at hospitals throughout Botswana, expanding from 8 to 18 sites in 2018. Trained midwives performed surface examinations of all live-born and stillborn infants. Research assistants photographed abnormalities after maternal consent was obtained. The prevalence of neural-tube defects and major external structural defects according to maternal HIV infection and ART exposure status was determined. In the primary analyses, we used the Newcombe method to evaluate differences in prevalence with 95% confidence intervals. RESULTS: From August 2014 through March 2019, surveillance captured 119,477 deliveries; 119,033 (99.6%) had an infant surface examination that could be evaluated, and 98 neural-tube defects were identified (0.08% of deliveries). Among 1683 deliveries in which the mother was taking dolutegravir at conception, 5 neural-tube defects were found (0.30% of deliveries); the defects included two instances of myelomeningocele, one of anencephaly, one of encephalocele, and one of iniencephaly. In comparison, 15 neural-tube defects were found among 14,792 deliveries (0.10%) in which the mother was taking any non-dolutegravir ART at conception, 3 among 7959 (0.04%) in which the mother was taking efavirenz at conception, 1 among 3840 (0.03%) in which the mother started dolutegravir treatment during pregnancy, and 70 among 89,372 (0.08%) in HIV-uninfected mothers. The prevalence of neural-tube defects was higher in association with dolutegravir treatment at conception than with non-dolutegravir ART at conception (difference, 0.20 percentage points; 95% confidence interval [CI], 0.01 to 0.59) or with other types of ART exposure. Major external structural defects were found in 0.95% of deliveries among women exposed to dolutegravir at conception and 0.68% of those among women exposed to non-dolutegravir ART at conception (difference, 0.27 percentage points; 95% CI, -0.13 to 0.87). CONCLUSIONS: The prevalence of neural-tube defects was slightly higher in association with dolutegravir exposure at conception than with other types of ART exposure at conception (3 per 1000 deliveries vs. 1 per 1000 deliveries). (Funded by the National Institutes of Health.).


Assuntos
Antirretrovirais/efeitos adversos , Anormalidades Congênitas/epidemiologia , Infecções por HIV/tratamento farmacológico , Compostos Heterocíclicos com 3 Anéis/efeitos adversos , Defeitos do Tubo Neural/induzido quimicamente , Complicações Infecciosas na Gravidez/tratamento farmacológico , Adulto , Antirretrovirais/uso terapêutico , Botsuana/epidemiologia , Quimioterapia Combinada , Feminino , Feto/efeitos dos fármacos , Inibidores de Integrase de HIV/efeitos adversos , Inibidores de Integrase de HIV/uso terapêutico , Compostos Heterocíclicos com 3 Anéis/uso terapêutico , Humanos , Recém-Nascido , Defeitos do Tubo Neural/epidemiologia , Vigilância da População , Gravidez , Prevalência , Fatores Socioeconômicos
7.
Nutrients ; 11(5)2019 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-31109064

RESUMO

Most professional and international organizations recommend folic acid supplementation for women planning pregnancy. Various studies have shown high levels of non-compliance with this recommendation. This study aimed to identify sociodemographic characteristics related to this compliance. The analyses were based on 16,809 women from the French nationwide ELFE cohort (Etude Longitudinale Française depuis l'Enfance). Folic acid supplementation was assessed at delivery, and sociodemographic characteristics were collected at two months postpartum. The association between sociodemographic characteristics and compliance with recommendations on folic acid supplementation (no supplementation, periconceptional supplementation, and supplementation only after the periconceptional period) was examined using multivariate multinomial logistic regression. Only 26% of French women received folic acid supplementation during the periconceptional period, 10% of women received supplementation after the periconceptional period, and 64% received no supplementation. Young maternal age, low education level, low family income, multiparity, single parenthood, maternal unemployment, maternal overweight, and smoking during pregnancy were related to lower likelihood of folic acid supplementation during the periconceptional period compared to no supplementation. These associations were not explained by unplanned pregnancy. Immigrant and underweight women were more likely to receive folic acid supplementation after the periconceptional period. Our study confirms great social disparities in France regarding the compliance with the recommendations on folic acid supplementation.


Assuntos
Suplementos Nutricionais , Ácido Fólico/administração & dosagem , Ácido Fólico/farmacologia , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/prevenção & controle , Fenômenos Fisiológicos da Nutrição Pré-Natal , Adulto , Criança , Feminino , França , Humanos , Gravidez , Fatores Socioeconômicos , Adulto Jovem
8.
BJOG ; 126(9): 1127-1133, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31006176

RESUMO

BACKGROUND: At the end of the 1980s, several studies suggested a potential increased risk of neural tube defects (NTDs) with ovulation induction/fertility drugs, especially with clomiphene citrate (CC). A previous meta-analysis of observational studies evaluating the risk of NTDs associated with the use of CC performed in 1995 found a risk ratio of 1.08 (95% CI 0.76-1.51). Since then, additional studies have been published and the risk of NTDs associated with periconceptional CC exposure may have changed. OBJECTIVE: To perform an updated quantitative meta-analysis of the risk of NTDs associated with periconceptional CC exposure. SEARCH STRATEGY: MEDLINE, Web of Science, and Scopus were searched (October 2018). SELECTION CRITERIA: Comparative cohort and case-control studies investigating the risk of NTDs after periconceptional CC exposure. DATA COLLECTION AND ANALYSIS: Pooled effect sizes with corresponding 95% CIs were calculated using random effects models, comparing the risk of NTDs between pregnancies exposed and not exposed to CC. MAIN RESULTS: Thirteen studies met the inclusion criteria, totalling 218 819 pregnancies. Periconceptional exposure to CC was not significantly associated with an increased risk of NTDs (pooled odds ratio 1.21, 95% CI 0.88-1.66). No heterogeneity between studies was observed (I2  = 26%). A funnel plot and asymmetry test were not suggestive of publication bias. CONCLUSION: Our meta-analysis confirms that exposure to CC before or in early pregnancy was associated with a 21% increased risk of NTD in relation to CC exposure; however, this increased risk is not statistically significant. TWEETABLE ABSTRACT: A new meta-analysis finds that clomiphene citrate exposure before or in early pregnancy is not associated with an increased risk of NTDs.


Assuntos
Anormalidades Induzidas por Medicamentos/epidemiologia , Clomifeno/efeitos adversos , Fármacos para a Fertilidade Feminina/efeitos adversos , Exposição Materna/efeitos adversos , Defeitos do Tubo Neural/epidemiologia , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Infertilidade Feminina/tratamento farmacológico , Defeitos do Tubo Neural/induzido quimicamente , Estudos Observacionais como Assunto , Razão de Chances , Indução da Ovulação/métodos , Gravidez , Fatores de Risco
9.
Ann Intern Med ; 170(9): 614-625, 2019 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-30934067

RESUMO

Background: Dolutegravir is superior to efavirenz for HIV antiretroviral therapy (ART) but may be associated with an increased risk for neural tube defects (NTDs) in newborns if used by women at conception. Objective: To project clinical outcomes of ART policies for women of child-bearing potential in South Africa. Design: Model of 3 strategies: efavirenz for all women of child-bearing potential (EFV), dolutegravir for all women of child-bearing potential (DTG), or World Health Organization (WHO)-recommended efavirenz without contraception or dolutegravir with contraception (WHO approach). Data Sources: Published data on NTD risks (efavirenz, 0.05%; dolutegravir, 0.67% [Tsepamo study]), 48-week ART efficacy with initiation (efavirenz, 60% to 91%; dolutegravir, 96%), and age-stratified fertility rates (2 to 139 per 1000 women). Target Population: 3.1 million South African women with HIV (aged 15 to 49 years) starting or continuing first-line ART, and their children. Time Horizon: 5 years. Perspective: Societal. Intervention: EFV, DTG, and WHO approach. Outcome Measures: Deaths among women and children, sexual and pediatric HIV transmissions, and NTDs. Results of Base-Case Analysis: Compared with EFV, DTG averted 13 700 women's deaths (0.44% decrease) and 57 700 sexual HIV transmissions, but increased total pediatric deaths by 4400 because of more NTDs. The WHO approach offered some benefits compared with EFV, averting 4900 women's deaths and 20 500 sexual transmissions while adding 300 pediatric deaths. Overall, combined deaths among women and children were lowest with DTG (358 000 deaths) compared with the WHO approach (362 800 deaths) or EFV (367 300 deaths). Results of Sensitivity Analysis: Women's deaths averted with DTG exceeded pediatric deaths added with EFV unless dolutegravir-associated NTD risk was 1.5% or greater. Limitation: Uncertainty in NTD risks and dolutegravir efficacy in resource-limited settings, each examined in sensitivity analyses. Conclusion: Although NTD risks may be higher with dolutegravir than efavirenz, dolutegravir will lead to many fewer deaths among women, as well as fewer overall HIV transmissions. These results argue against a uniform policy of avoiding dolutegravir in women of child-bearing potential. Primary Funding Source: National Institutes of Health, National Institute of Allergy and Infectious Diseases and Eunice Kennedy Shriver National Institute of Child Health and Human Development; Massachusetts General Hospital; and Harvard University Center for AIDS Research.


Assuntos
Benzoxazinas/uso terapêutico , Infecções por HIV/tratamento farmacológico , Infecções por HIV/transmissão , Compostos Heterocíclicos com 3 Anéis/uso terapêutico , Transmissão Vertical de Doença Infecciosa/prevenção & controle , Adolescente , Adulto , Antirretrovirais/uso terapêutico , Feminino , Infecções por HIV/epidemiologia , Humanos , Transmissão Vertical de Doença Infecciosa/estatística & dados numéricos , Contracepção Reversível de Longo Prazo , Pessoa de Meia-Idade , Modelos Teóricos , Defeitos do Tubo Neural/induzido quimicamente , Defeitos do Tubo Neural/epidemiologia , África do Sul/epidemiologia , Adulto Jovem
10.
Paediatr Perinat Epidemiol ; 33(2): 145-153, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30920008

RESUMO

BACKGROUND: We sought to assess the recent trend in NTD prevalence at birth in the post-folic acid food fortification era and to identify the maternal risk factors associated with that trend. METHODS: We carried out a population-based study of all livebirths and stillbirths (including late pregnancy terminations) delivered in hospitals in Canada (excluding Quebec) from 2004 to 2015 (n = 3 439 330). We examined NTD birth prevalence by year, multiple pregnancy, maternal age, parity, pregestational diabetes, chronic illness, and problematic substance use. Poisson regression was used to quantify the association between spina bifida and cranial defects and maternal characteristics and other risk factors. RESULTS: We identified 1517 non-chromosomal NTDs, yielding a birth prevalence of 4.4 per 10 000 total births. NTD prevalence rose from 3.6 in 2004 to 4.6 per 10 000 in 2015 (Ptrend  = 0.03). Among NTD subtypes, only spina bifida showed a temporal increase (Ptrend  = 0.03). Birth prevalence of spina bifida was higher among younger mothers, those with type 2 diabetes (rate ratio (RR) 3.74, 95% confidence interval (CI) 2.21, 6.35), chronic illness (RR 3.16, 95% CI 1.97, 5.07), and problematic substance use (RR 1.88, 95% CI 1.31, 2.71). Adjusting for risk factors attenuated the significant temporal trend in spina bifida (unadjusted average annual prevalence ratio (aAAPR) 1.016, 95% CI 1.001, 1.032; adjusted AAPR 1.014, 95% CI 0.998, 1.029). CONCLUSIONS: Increases in the frequency of maternal risk factors such as pregestational diabetes mellitus, substance use, and chronic illness may be partly responsible for the recent rise in NTDs, particularly spina bifida.


Assuntos
Diabetes Mellitus Tipo 2/complicações , Ácido Fólico/uso terapêutico , Mães , Defeitos do Tubo Neural/epidemiologia , Gravidez em Diabéticas/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/complicações , Adulto , Canadá/epidemiologia , Diabetes Mellitus Tipo 2/fisiopatologia , Feminino , Humanos , Recém-Nascido , Idade Materna , Defeitos do Tubo Neural/etiologia , Vigilância da População , Gravidez , Gravidez em Diabéticas/fisiopatologia , Prevalência , Fatores de Risco , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Adulto Jovem
11.
Congenit Anom (Kyoto) ; 59(4): 118-124, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30883906

RESUMO

The vital role of folic acid is to reduce the risk of having a neonate afflicted with neural tube defects. The prevalence of neural tube defects (myelomeningocele and anencephaly) has been reported in an incomplete form over the last 40 years in Japan. We aimed to evaluate the total number of neural tube defects including those delivered or terminated, to clarify the proportion of those terminated, and to internationally compare their prevalence. Through information on >311 000 deliveries obtained from 262 hospitals/clinics for 2 years of 2014 and 2015, we identified that the rate of total neural tube defects (termination of pregnancy, live births and stillbirths) was 8.29 per 10 000 deliveries for the year 2014 and was 8.72 for 2015, which were 1.5 and 1.6 times higher than the respective values (live births and stillbirths) reported. It is also observed that the ratio of the total number of myelomeningocele (termination of pregnancy, live births, and stillbirths) to that of anencephaly was approximately 1:1.2, that a half of pregnancies afflicted with neural tube defects were terminated, and that the proportion of termination of pregnancy due to myelomeningocele and due to anencephaly was 20% and 80%, respectively. Internationally, the real prevalence of neural tube defects in Japan was comparatively high, ranking fifth among the seven developed countries. In conclusion, the real prevalence of total neural tube defects was approximately 1.5 times higher than that currently reported by the Japan Association of Obstetricians and Gynecologists.


Assuntos
Defeitos do Tubo Neural/epidemiologia , Feminino , Humanos , Recém-Nascido , Japão/epidemiologia , Defeitos do Tubo Neural/diagnóstico , Gravidez , Diagnóstico Pré-Natal , Prevalência , Vigilância em Saúde Pública
12.
Ital J Pediatr ; 45(1): 37, 2019 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-30867013

RESUMO

BACKGROUND: Neural tube defects (NTDs) are birth defects of the brain, spine, or spinal cord invoked by the insufficient intake of folic acid in the early stages of pregnancy and have a complex etiology involving both genetic and environmental factors. So the study aimed to explore the association between alterations in maternal one-carbon metabolism and NTDs in the offspring. METHODS: We conducted a case-control study to get a deeper insight into this association, as well as into the role of genetic polymorphisms. Plasma concentrations of folate, homocysteine (Hcy), S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH) and genotypes and alleles distributions of 52 SNPs in 8 genes were compared for 61 women with NTDs-affected offspring and 61 women with healthy ones. RESULTS: There were significant differences between groups with regard to plasma folate, SAM, SAH and SAM/SAH levels. Logistic regression results revealed a significant association between maternal plasma folate level and risk of NTDs in the offspring. For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259). For MTHFR rs1801133 polymorphism, mothers having TT and CT genotypes were more likely to affect NTDs in the offspring (OR = 4.105, 95%CI: 1.271-13.258; OR = 3.333, 95%CI: 1.068-10.400). Moreover, mothers carrying T allele had a higher risk of NTDs in the offspring (OR = 1.798, 95%CI: 1.070-3.021). For MTRR rs1801394 polymorphism, the frequency of G allele was significantly higher in cases than in controls (OR = 1.763, 95%CI: 1.023-3.036). Mothers with NTDs-affected children had higher AG genotype in RFC1 rs1051226 polymorphism than controls, manifesting an increased risk for NTDs (OR = 3.923, 95%CI: 1.361-11.308). CONCLUSION: Folic acid deficiency, MTHFD1 rs2236225, MTHFR rs1801133, MTRR rs1801349 and RFC1 rs1051226 polymorphisms may be maternal risk factors of NTDs.


Assuntos
Deficiência de Ácido Fólico/genética , Predisposição Genética para Doença/epidemiologia , Defeitos do Tubo Neural/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Carbono/metabolismo , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , China , Feminino , Ferredoxina-NADP Redutase/genética , Deficiência de Ácido Fólico/diagnóstico , Deficiência de Ácido Fólico/epidemiologia , Marcadores Genéticos/genética , Genótipo , Humanos , Recém-Nascido , Modelos Logísticos , Masculino , Metilenotetra-Hidrofolato Desidrogenase (NADP)/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Antígenos de Histocompatibilidade Menor/genética , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/fisiopatologia , Razão de Chances , Gravidez , Valores de Referência
13.
Environ Int ; 126: 222-227, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30807959

RESUMO

Numerous animal studies have shown that high arsenic exposure can induce neural tube defect (NTD) formation. However, epidemiological evidence related to this finding is scarce. The key objective of our study is to evaluate whether maternal arsenic exposure is associated with NTD risk in Northern China. Our case-control study was conducted in 11 countries or cities in Shanxi and Hebei provinces during 2003-2007. A total of 774 mothers were included as participants: 511 controls and 263 cases (including 123 with anencephaly, 115 with spina bifida, 18 with encephalocele, and 7 with other NTD subtypes). The arsenic concentration was measured in a specific section of hair that grew from 3 months before to 3 months after conception. We found a higher hair arsenic concentration in the NTD cases with median (inter-quartile range) of 0.093 (0.025-0.387) µg/g hair than that in the controls with a value of 0.082 (0.030-0.414) µg/g hair. Maternal hair arsenic concentration above its median of the controls was associated with an increased risk of the total NTDs with an adjusted odds ratio (OR) of 1.32 [95% confidence interval (CI): (0.91-1.92)], which was not statistically significant (p = 0.14), although the crude OR without adjusting for the confounders of 1.68 (95% CI: 1.24-2.27; p < 0.001) suggested that hair arsenic is a risk factor of NTDs. There was no dose-response relationship between maternal hair arsenic concentration and the risk of total NTDs. Similar phenomena were found for anencephaly and spina bifida, respectively. Overall, our findings showed that maternal periconceptional arsenic exposure may not significantly contribute to the risk of NTD development in Northern China; other risk factors need to be further examined in future studies.


Assuntos
Arsênico/análise , Poluentes Ambientais/análise , Cabelo/química , Exposição Materna , Defeitos do Tubo Neural/epidemiologia , Adulto , Estudos de Casos e Controles , China/epidemiologia , Monitoramento Ambiental , Feminino , Humanos , Masculino , Razão de Chances , Fatores de Risco
14.
Brain Dev ; 41(5): 406-412, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30651190

RESUMO

BACKGROUND: Nutritional deficiency in pregnant women is a confirmed cause of neural tube defects (NTDs). Alongside to this background, We sought to determine the nutritional status and level of awareness on the issue of the NTDs as well as folic acid (FA) utilization among women who born infants with NTDs in Tigray region of Ethiopia. METHOD: A standard interviewer and a food frequency questionnaire was used to obtain information from mothers of cases with neural tube defects (n = 205) and their controls (n = 412). Demographic information, weekly food frequency consumption, information on awareness on the issue of the NTDs as well as folic acid (FA) use was collected. RESULT: The mean age of the mothers of the cases and controls was 26.5 years (range 17-43 years) and 26.05 years (range 18-40 years), respectively. Approximately 92.2% (189/205) of the cases and 90.5% (373/412) control mothers do not know the term folic acid (FA). Notably, all participant mothers (100%) did not understand that NTDs are a serious health problem associated with inadequate intake of FA and none of them used FA prior to conception. Food frequency analysis revealed that except for cereals (p = 0.12) and milk products (p = 0.8), the proportion of the consumed food type within seven days recalls period showed a statistically significant difference (p < 0.05) as compared with controls. The dietary diversity score assessment showed those attained low and high dietary diversity score were a statistically significant difference (p = 0.0003) and (p = 0.0002) respectively) as compared with controls, but the medium dietary diversity score no significant variation was found (p = 0.35). CONCLUSION: This study has shown none of the study participants do understand that NTDs are a serious health problem associated with inadequate intake of FA. Dietary diversity score was significantly associated with incidence of NTDs. This Ethiopian study also highlighted the need of considering the basic food in future programs of food fortification with folic acid, preconceptional folic acid supplementation and adequate dietary intake counseling. Advance research is required to find out the gene-nutrient and gene environment interactions, as well as particular causative factors associated with NTDs in Ethiopia.


Assuntos
Deficiência de Ácido Fólico/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Defeitos do Tubo Neural/epidemiologia , Estado Nutricional , Complicações na Gravidez/epidemiologia , Adolescente , Adulto , Etiópia/epidemiologia , Feminino , Deficiência de Ácido Fólico/complicações , Humanos , Defeitos do Tubo Neural/etiologia , Gravidez , Complicações na Gravidez/etiologia , Adulto Jovem
16.
Congenit Anom (Kyoto) ; 59(4): 110-117, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29900595

RESUMO

We evaluated the relationship between preconception folic acid supplementation and the occurrence of neural tube defects (NTDs) in offspring, using data from the Japan Environment and Children's Study (a nationwide prospective birth cohort study) database. Of 92 269 participants with single pregnancies, 74 cases (offspring or fetuses) had NTDs, including 32 cases of spina bifida, 24 cases of anencephaly, and 19 cases of encephalocele. A total of 7634 participants (8.27%) used preconception folic acid supplementation, and of these, 621 (0.67%) also took in dietary folic acid at ≥480 µg/day. Multivariate logistic regression analyses demonstrated no association between preconception folic acid supplementation and NTDs in offspring or fetuses (odds ratio [OR] 0.622; 95% confidence interval [CI]: 0.226-1.713). Moreover, the participants who combined preconception folic acid supplement use with dietary folic acid intake ≥480 µg/day demonstrated no incidence of NTDs in offspring or fetuses. Our analysis is limited by the absence of the data on the daily amount of supplementary folic acid intake, requiring careful attention to the interpretation. Additional surveys are required in Japan to resolve those limitations for further comprehensive assessment.


Assuntos
Suplementos Nutricionais , Ácido Fólico/administração & dosagem , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/etiologia , Cuidado Pré-Concepcional , Adolescente , Adulto , Estudos de Coortes , Feminino , Humanos , Japão/epidemiologia , Pessoa de Meia-Idade , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/prevenção & controle , Razão de Chances , Fenótipo , Gravidez , Vigilância em Saúde Pública , Inquéritos e Questionários , Adulto Jovem
17.
Brain Dev ; 41(1): 11-18, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30075882

RESUMO

INTRODUCTION: Unlike developing countries, including Ethiopia the identification of the risk factors in decreasing the burden of neural tube defects (NTDs) is well established in the developed world. Hence, we sought to determine the factors associated with NTDs in Tigray - Ethiopia. METHODS: We undergo a case-control analysis where all NTDs cases were compared to a group of controls derived randomly from the same hospitals where cases were recruited from. The NTDs survey tool which contains a standard questionnaire was prepared. Parental socio-demographic and clinical information such, maternal age, obstetric history, illnesses, drug intake, radiation, occupation, education, history of congenital anomalies, residence, exposure to pollutants such as smoking, chemicals, paternal history, and folic acid utilization was collected and analyzed using SPSS version 20. RESULT: This study has shown the maternal age, and residency, birth order 3 and 4, unplanned pregnancy, history of breastfeeding above 2 years, history of stillbirths, history of male gender predominance were found to have a strong association with an occurrence of NTDs (p = 0.0001). Though the binary logistic regression analysis showed no significant association in some of the risk factors such as maternal health and drug history, the frequency analysis showed they may have an impact on the incidence of NTDs. CONCLUSION: This study has shown the majority of the maternal risk factors and other lifestyle patterns had a significant impact on the occurrence of NTDs. Therefore, efficient monitoring of NTDs in Ethiopia is vital, so our study could be groundwork information in Ethiopia for future programs.


Assuntos
Mães , Defeitos do Tubo Neural/epidemiologia , Adulto , Aleitamento Materno , Estudos de Casos e Controles , Etiópia/epidemiologia , Feminino , Humanos , Recém-Nascido , Idade Materna , Comportamento Materno , Saúde Materna , Distribuição Aleatória , Fatores de Risco , Fatores Sexuais , Fatores Socioeconômicos , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Adulto Jovem
18.
Birth Defects Res ; 111(3): 151-158, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30561844

RESUMO

BACKGROUND: Despite a substantial prevention of neural tube defects with mandatory folic acid (FA) fortification, a significant number of cases still exist in Alberta, Canada, particularly spina bifida (SB). The purpose of this study was to review cases with SB to provide a possible explanation as to why SB is still prevalent in Alberta. METHODS: Cases with SB born between 2001 and 2015, ascertained by the Alberta Congenital Anomalies Surveillance System, were reviewed. Cases were classified as lipomeningomyelocele, syndrome/recognized condition, chromosome, associated multiple congenital anomalies, and isolated. The notice of birth forms were reviewed to determine FA supplement use before and/or during pregnancy. Socioeconomic status (SES) was also examined. RESULTS: The majority of cases were isolated (58%). The total prevalence of SB for 2001-2015 was 0.37/1,000 births, with isolated SB being 0.21/1,000 births. Urinary and congenital heart defects were the most frequently identified associated anomalies. FA supplementation could not be determined for 69% of our cases because of a lack of completeness of the notice of birth forms. There was no significant difference regarding SES between mothers of cases and all mothers in Alberta. CONCLUSIONS: It is important to examine cases with isolated SB to determine why mandatory FA fortification has not completely prevented SB and to identify which cases are not folate-responsive. A more concerted effort of public health education and promotion with the identification of women with suboptimal folate status and a better understanding of the role of other micronutrients is necessary.


Assuntos
Disrafismo Espinal/epidemiologia , Disrafismo Espinal/prevenção & controle , Alberta/epidemiologia , Anencefalia/epidemiologia , Suplementos Nutricionais , Feminino , Ácido Fólico , Alimentos Fortificados , Humanos , Masculino , Defeitos do Tubo Neural/epidemiologia , Gravidez , Prevalência
19.
Nutr J ; 17(1): 115, 2018 12 12.
Artigo em Inglês | MEDLINE | ID: mdl-30541549

RESUMO

BACKGROUND: Folic acid (FA) supplementation is known to prevent neural tube defects (NTDs). We examined whether this preventive effect differs by the sex of the infant. METHODS: Data were gathered from a large population-based cohort study in China that evaluated the effects of FA supplementation on NTDs. All births at 20 complete gestational weeks, including live births, stillbirths, and pregnancy terminations, and all NTDs, regardless of gestational age, were recorded. In a northern China province, a total of 30,801 singleton live births to women whose use of FA supplements during the first trimester was known at the time were included in the study. The birth prevalence of NTDs was classified by sex, subtype, and maternal FA supplementation. Male to female rate ratios [RR] and their 95% confidence intervals [CI] were calculated. RESULTS: A total of 106 NTDs cases were recorded. The overall prevalence of NTDs was 2.5‰ among males and 4.4‰ among females; NTDs were less prevalent among males than among females (RR, 0.58; 95% CI, 0.54-0.63). There was a higher prevalence of anencephaly (RR, 0.34; 95% CI, 0.27-0.43) and spina bifida (RR, 0.73; 95% CI, 0.63-0.84) among females. However, FA supplementation led to significantly greater decreases in the rates of anencephaly (4.8‰) and total NTDs (7.6‰) in females than in males (1.6‰ and 2.8‰, respectively). CONCLUSIONS: FA supplementation successfully reduces the prevalence of NTDs in both male and female infants, although we found a significantly greater decrease in anencephaly and total NTDs in females than in males. How the protective effects of FA supplementation affect the sexes differently needs to be studied further.


Assuntos
Suplementos Nutricionais/estatística & dados numéricos , Ácido Fólico/uso terapêutico , Serviços de Saúde Materna/estatística & dados numéricos , Fenômenos Fisiológicos da Nutrição Materna/fisiologia , Defeitos do Tubo Neural/prevenção & controle , Complexo Vitamínico B/uso terapêutico , China/epidemiologia , Estudos de Coortes , Feminino , Ácido Fólico/administração & dosagem , Humanos , Recém-Nascido , Masculino , Defeitos do Tubo Neural/epidemiologia , Gravidez , Prevalência , Estudos Prospectivos , Distribuição por Sexo , Complexo Vitamínico B/administração & dosagem , Adulto Jovem
20.
PLoS One ; 13(11): e0206212, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30427877

RESUMO

INTRODUCTION: Neural tube defects are the major causes of fetal loss and considerable disabilities in infants. Currently, there is no significant research on the incidence of Neural tube defects in the Tigray region of Ethiopia. OBJECTIVE: To determine the incidence and clinical pattern of the Neural Tube Defects. METHODS: A hospital-based cross-sectional study was conducted from October 2016 to June 2017. All pregnancy outcomes were examined for any externally visible birth defects and neurological integrity by trained midwives under the supervision of senior obstetrics and gynecology and a neurosurgeon. Data were collected using a survey tool to collect maternal and newborn demographic data and a checklist developed to capture newborns with Neural Tube Defects. Data were analyzed using SPSS version 20. The prevalence of NTDs was calculated per 10,000 births. RESULT: Out of the 14,903 births during the study period, a total of 195 infants were born afflicted with Neural Tube Defects. The burden of infants with anencephaly and spina bifida was 66.4 and 64.4 per 10, 000 births, respectively. The overall incidence rate of NTDs in this study was 131 per 10, 000 births of which 23% were liveborn and 77% were stillborn. The highest burden of Neural Tube Defects was observed in Adigrat Hospital from Eastern Zone of Tigray (174 per 10,000 births) and Lemlem Karl Hospital from Southern Zone of Tigray (304 per 10,000 births) compared to Kahsay Abera Hospital from Western Zone (72.8 per 10,000 births) and Sihul Hospital from North Western Zone of Tigray (69.8 per 10,000 births). CONCLUSION AND RECOMMENDATION: Assuming that the non folic acid preventable rate should be 5 per 10,000 births, our prevalence rate is 131 per 10,000 births, and then we have a rate or an epidemic that is 26 times what it should be. This just emphasizes the urgency to implement effective programs to get all women of reproductive age to have adequate folic acid to prevent all of folic acid-preventable spina bifida and anencephaly, which would prevent 96% (125/130) of spina bifida and anencephaly in the Tigray Provence.


Assuntos
Ácido Fólico/metabolismo , Defeitos do Tubo Neural/epidemiologia , Disrafismo Espinal/epidemiologia , Adulto , Estudos Transversais , Etiópia/epidemiologia , Feminino , Ácido Fólico/administração & dosagem , Hospitais , Humanos , Recém-Nascido , Nascimento Vivo , Defeitos do Tubo Neural/dietoterapia , Defeitos do Tubo Neural/fisiopatologia , Vigilância da População , Gravidez , Resultado da Gravidez , Disrafismo Espinal/dietoterapia , Disrafismo Espinal/fisiopatologia , Adulto Jovem
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