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1.
J Glob Health ; 11: 18002, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34671465

RESUMO

Background: Food fortification can be an effective intervention to improve maternal and child health. Folic acid fortification can reduce neural tube defects due to folate deficiency. Iron fortification is effective to reduce maternal anemia due to iron deficiency. The paper describes the methods for estimating current coverage levels for iron fortification and folic acid fortification and estimates current impact of fortification in low- and middle-income countries (LMICs) using the Lives Saved Tool (LiST). Methods: The database was obtained from Global Fortification Data Exchange. We used the following indicators from the database: food intake, fortification standard, percent of food produced in industrial mills, and percent of industrially milled food that is fortified. Together with the recommended dietary allowances for women of reproductive age (WRA), we calculated percentage of WRA getting recommended intake through fortification and used the percentage as an estimate for fortification coverage. We then used LiST to estimate the health impact of fortification on maternal and child health. Results: Folic acid was fortified in 72 countries, with a median coverage of 43%. Iron was fortified in 87 countries, with a median coverage of 23%. Forty-six LMICs fortified either folic acid, iron, or both. And the weighted coverage of folic acid fortification and iron fortification were 34% and 19%, respectively. A greater percentage of WRA got appropriate levels of folic acid and iron via fortification in higher income countries. Based on LiST projection, it is estimated that in 2021, over 4 million anemia cases among WRA will be averted due to consumption of iron fortified food. About 1900 stillbirths and 3000 neonatal deaths due to neural tube defects will be averted due to consumption of folic acid fortified food. Conclusions: We estimated the coverage of folic acid fortification and iron fortification in LMICs and included them in the most recent version of LiST. Trends in coverage will be included in LiST as data become available. Our analysis shows that while most LMICs have fortification programs, currently the effects of these programs are limited either through low levels of fortification in industrialized food, low consumption of fortified food or both.


Assuntos
Países em Desenvolvimento , Defeitos do Tubo Neural , Criança , Feminino , Ácido Fólico , Alimentos Fortificados , Humanos , Recém-Nascido , Ferro , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/prevenção & controle
2.
Turk J Pediatr ; 63(4): 683-690, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34449151

RESUMO

BACKGROUND: This study aims to evaluate the experience of a tertiary health center on the timeliness of postnatal management in newborns with open neural tube defects (NTDs). METHODS: This is a retrospective review of 38 neonates with NTDs who were treated surgically at a tertiary health care center between January 2009 and January 2019. Five neonates with genetic syndromes were excluded. RESULTS: Twenty-six neonates with NTD underwent surgery on the first postnatal day while 12 neonates with NTD had surgery after the first postnatal day. The reasons for the latency in operative treatment were the delay in the referral of the affected newborn from other health care centers (n=8) and the transient abnormalities in coagulation tests (n=4). Rural residence was significantly more frequent, gestational age at delivery was significantly lower, preterm delivery was significantly more frequent and prenatal diagnosis was significantly less frequent in neonates that underwent surgery for NTD repair after the first postnatal day (p=0.001, p=0.048, p=0.024 and p=0.003 respectively). Postoperative motor dysfunction was significantly more severe (p=0.002), postoperative complications were significantly more frequent (p=0.008), the reoperation and postoperative mortality rates were significantly higher (p=0.009 and p=0.048 respectively) and the duration of hospital stay was significantly longer (p=0.033) for the neonates who underwent surgery after the first postnatal day. CONCLUSIONS: Our study appears to favor the early repair of NTD`s within the first 24 hours of life. Such an approach may reduce the risk of infectious and neurological complications significantly.


Assuntos
Defeitos do Tubo Neural , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/cirurgia , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Centros de Atenção Terciária
3.
J Med Screen ; 28(4): 405-410, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34279151

RESUMO

OBJECTIVE: To compile current usage of serum-based prenatal screening for Down syndrome in the United States and compare it with results from a similar 2011/2012 survey. SETTING: The College of American Pathologists maternal screening proficiency testing survey includes a supplemental question on the first of three yearly distributions. METHODS: Information regarding tests offered and the monthly number of pregnancies tested for US-based laboratories were reviewed. Results were stratified by size of laboratory, tests offered, and pregnancies tested. Findings were compared to an earlier survey. RESULTS: Fifty-six laboratories reported they will have screened 1,131,336 pregnancies in 2020. Of these, 36% are screened by stand-alone first trimester testing, 48% by stand-alone second trimester testing, and 16% using tests that integrate results from both trimesters. Eighty percent of all serum screens were provided by the five laboratories that performed the most screens (at least 50,000). These five performed similar proportions of first or second trimester screens (42.2% and 41.8%, respectively). Compared to eight years earlier, there are now 54% fewer laboratories. Pregnancies screened using the first trimester, second trimester, and integrated protocols were lower by 27%, 69%, and 72%, respectively. The serum screening activity in the US showed a 62% decrease from 2012 levels. During 2012-2020, the number of cell-free DNA tests increased from negligible to 1,492,332. CONCLUSIONS: Maternal serum screening for common aneuploidies has changed significantly in eight years with fewer laboratories, a shift toward larger laboratories and a 2.5-fold reduction in pregnancies tested, likely due to the introduction of cell-free DNA screening.


Assuntos
Síndrome de Down , Defeitos do Tubo Neural , Síndrome de Down/diagnóstico , Feminino , Humanos , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Estados Unidos
4.
Chemosphere ; 284: 131387, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34217934

RESUMO

Aluminum (Al)1 is ubiquitously present in the environment, and human exposure to Al is common. Al has been reported to be involved in various human diseases and adverse pregnancy outcomes, including neural tube defects (NTDs). This study aimed to examine the association between prenatal Al exposure and the risk for NTDs using Al concentrations in maternal serum and placental tissue. The subjects were recruited from six counties/cities in the Shanxi province of northern China from 2003 to 2016. Al concentrations in both types of specimens were assessed using inductively coupled plasma-mass spectrometry. In the maternal serum cohort (200 cases and 400 controls), compared to the lowest tertile concentration of Al, the highest Al tertile was associated with 2.42-fold (95% confidence interval, 1.23-4.87) increased risk after adjustment for confounding factors. In the placental tissue cohort (408 cases and 593 controls), the highest tertile of Al also tended to be associated with an elevated risk for NTDs [adjusted odds ratio, 1.60 (0.94-2.70)]. When analyzed by NTD subtypes, the highest Al tertile was associated with an increased risk for anencephaly in both cohorts after adjustment for confounders [odds ratio, 1.97 (1.15-3.48) in the maternal serum cohort; odds ratio, 4.75 (2.01-12.00) in the placental tissue cohort]. Taken together, using concentrations of Al in maternal serum and placental tissue as exposure markers, we found that prenatal exposure to higher levels of Al is a risk factor for fetal NTDs, especially for the anencephaly subtype.


Assuntos
Alumínio , Defeitos do Tubo Neural , Feminino , Feto , Humanos , Defeitos do Tubo Neural/induzido quimicamente , Defeitos do Tubo Neural/epidemiologia , Razão de Chances , Placenta , Gravidez
5.
Environ Health ; 20(1): 66, 2021 06 05.
Artigo em Inglês | MEDLINE | ID: mdl-34090432

RESUMO

BACKGROUND: Prenatal exposure to heavy metals is implicated in the etiology of birth defects. We investigated whether concentrations of cadmium (Cd) and lead (Pb) in umbilical cord tissue are associated with risk for neural tube defects (NTDs) and whether selected genetic variants of the fetus modify their associations. METHODS: This study included 166 cases of NTD fetuses/newborns and 166 newborns without congenital malformations. Umbilical cord tissue was collected at birth or elective pregnancy termination. Cd and Pb concentrations were assessed by inductively coupled plasma-mass spectrometry, and 20 single-nucleotide polymorphisms (SNPs) in 9 genes were genotyped. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the risk for NTDs in association with metal concentrations or genotype using logistic regression. Multiplicative-scale interactions between the metals and genotypes on NTD risk were assessed with logistic regression, and additive-scale interactions were estimated with a non-linear mixed effects model. RESULTS: Higher concentrations of Cd were observed in the NTD group than in the control group, but no difference was found for Pb. Concentrations of Cd above the median level showed a risk effect, while the association between Pb and NTD risk was not significant in univariate analyses. The association of Cd was attenuated after adjusting for periconceptional folic acid supplementation. Fetuses with the AG and GG genotypes of rs4880 in SOD2 (superoxide dismutase 2) tended to have a lower risk, but fetuses with the CT and TT genotypes of rs1801133 in MTHFR (5,10-methylenetetrahydrofolatereductase) have a higher risk for NTDs when compared to their respective wild-type. rs4880 and Cd exhibited a multiplicative-scale interaction on NTD risk: the association between higher Cd and the risk for NTDs was increased by over fourfold in fetuses carrying the G allele [OR 4.43 (1.30-15.07)] compared to fetuses with the wild-type genotype. rs1801133 and Cd exposure showed an additive interaction, with a significant relative excess risk of interaction [RERI 0.64 (0.02-1.25)]. CONCLUSIONS: Prenatal exposure to Cd may be a risk factor for NTDs, and the risk effect may be enhanced in fetuses who carry the G allele of rs4880 in SOD2 and T allele of rs1801133 in MTHFR.


Assuntos
Cádmio/efeitos adversos , Poluentes Ambientais/efeitos adversos , Exposição Materna/efeitos adversos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Defeitos do Tubo Neural/genética , Superóxido Dismutase/genética , Adulto , Cádmio/análise , Estudos de Casos e Controles , China/epidemiologia , Poluentes Ambientais/análise , Feminino , Feto , Genótipo , Humanos , Recém-Nascido , Chumbo/análise , Troca Materno-Fetal , Defeitos do Tubo Neural/epidemiologia , Polimorfismo de Nucleotídeo Único , Gravidez
6.
Turk Neurosurg ; 31(4): 634-640, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34169990

RESUMO

AIM: To evaluate the duration of hospitalization and the factors that increase this duration in cases treated in the neonatal intensive care unit with the diagnosis of a spinal neural tube defect (NTD). MATERIAL AND METHODS: The demographic characteristics, NTD type and level, ventriculoperitoneal (V-P) shunt needs, accompanying spinal deformity, antibiotherapy applied during treatment, and intensive care stay periods of 73 patients treated in our clinic between July 2017 and 2020 were retrospectively evaluated. RESULTS: The intensive care stay of NTD cases was 7?109 (mean=23) days. Fifty-one cases (69.9%) had myeloschisis, and 22 cases (30.1%) had myelomeningocele (MMC) sac. A V-P shunt was applied to 24 cases (32.9%) during hospitalization, and additional antibiotherapy was given to 32 (43.8%) cases. CONCLUSION: In myeloschisis cases compared with MMC marsupial cases, incidences of ventricular dilatation, kyphotic/scoliotic spine pathology, V-P shunt requirement, and longer hospital stay were observed. No difference in the duration of hospitalization was found in patients who underwent defect repair between the first day and 48 h after birth. However, the length of stay in hospital increased in patients operated on after 48 h. The period was longer in cases operated after seven days postnatally. Therefore, by performing NTD surgical treatment within the first 48 hours, the need for additional antibiotherapy and hospital stay can be shortened.


Assuntos
Tempo de Internação/estatística & dados numéricos , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/terapia , Cuidados Críticos/estatística & dados numéricos , Feminino , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Masculino , Meningomielocele/epidemiologia , Meningomielocele/cirurgia , Defeitos do Tubo Neural/patologia , Procedimentos Neurocirúrgicos/efeitos adversos , Procedimentos Neurocirúrgicos/métodos , Procedimentos Neurocirúrgicos/estatística & dados numéricos , Refugiados/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , Fatores Socioeconômicos , Coluna Vertebral/cirurgia , Síria/etnologia , Resultado do Tratamento , Turquia/epidemiologia , Derivação Ventriculoperitoneal/efeitos adversos , Derivação Ventriculoperitoneal/métodos , Derivação Ventriculoperitoneal/estatística & dados numéricos
9.
BMC Pregnancy Childbirth ; 21(1): 426, 2021 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-34126936

RESUMO

BACKGROUND: Neural tube defects (NTDs) are a group of disorders that arise from the failure of the neural tube close between 21 and 28 days after conception. About 90% of neural tube defects and 95% of death due to these defects occurs in low-income countries. Since these NTDs cause considerable morbidity and mortality, this study aimed to determine the prevalence and associated factors of NTDs in Africa. METHODS: The protocol of this study was registered in the International Prospective Register of Systematic Reviews (PROSPERO number: CRD42020149356). All major databases such as PubMed/MEDLINE, EMBASE, CINAHL, Web of Science, African Journals Online (AJOL), and Google Scholar search engine were systematically searched. A random-effect model was used to estimate the pooled prevalence of NTDs in Africa, and Cochran's Q-statistics and I2 tests were used to assess heterogeneity between included studies. Publication bias was assessed using Begg 's tests, and the association between determinant factors and NTDs was estimated using a random-effect model. RESULTS: Of the total 2679 articles, 37 articles fulfilled the inclusion criteria and were included in this systematic review and meta-analysis. The pooled prevalence of NTDs in Africa was 50.71 per 10,000 births (95% CI: 48.03, 53.44). Folic acid supplementation (AOR: 0.40; 95% CI: 0.19-0.85), maternal exposure to pesticide (AOR: 3.29; 95% CI: 1.04-10.39), mothers with a previous history of stillbirth (AOR: 3.35, 95% CI: 1.99-5.65) and maternal exposure to x-ray radiation (AOR 2.34; 95% CI: 1.27-4.31) were found to be determinants of NTDs. CONCLUSIONS: The pooled prevalence of NTDs in Africa was found to be high. Maternal exposure to pesticides and x-ray radiation were significantly associated with NTDs. Folic acid supplementation before and within the first month of pregnancy was found to be a protective factor for NTDs.


Assuntos
Defeitos do Tubo Neural/epidemiologia , Cuidado Pré-Natal , África/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Defeitos do Tubo Neural/prevenção & controle , Gravidez , Prevalência , Fatores de Risco
10.
Environ Pollut ; 285: 117203, 2021 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-33932758

RESUMO

Studies of the association between prenatal exposure to metal elements and risk for neural tube defects (NTDs) have produced inconsistent results. Little research has examined the joint effects and interactions of multiple elements. This study examined 273 women with NTD-affected pregnancies and 477 controls. Cadmium, cobalt, chromium, copper, iron, mercury, manganese, molybdenum, lead, and zinc were quantified in maternal serum. Single and mixed effects of these elements on NTD risk were evaluated with Bayesian kernel machine regression, and the effects of individual elements were validated using logistic regression. As a result, NTD risk increased with the concentration of the mixture of the 10 elements. NTD risk rose as the levels of the five toxic elements increased, with effect sizes larger than the overall analyses, but they decreased, albeit non-significantly, as the levels of the five essential elements increased. Lead and manganese showed risk effects on NTDs, with odds ratios (ORs) of 1.94 (1.76-2.13) and 1.25 (1.14-1.38), respectively, with the remaining nine elements remaining at their median. Molybdenum showed a protective effect against NTDs with an OR 0.87 (0.90-0.94). The single-element results were validated using logistic regression. In conclusion, NTD risk increased with concentrations of the five toxic elements, with lead and manganese being the major contributors. Essential elements showed protective effects against NTD risk.


Assuntos
Mercúrio , Defeitos do Tubo Neural , Teorema de Bayes , Estudos de Casos e Controles , Feminino , Feto , Humanos , Manganês , Defeitos do Tubo Neural/epidemiologia , Gravidez
11.
PLoS One ; 16(4): e0250719, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33901231

RESUMO

INTRODUCTION: Neural tube defects affect the brain and the spinal cord of the developing embryo. The defects occur due to incomplete or failure of closure of the neural tube. The condition eventually causes death and lifelong disability. Worldwide, more than 300,000 babies are born with neural tube defects each year. The highest burden is in low- and middle-income countries. Therefore, this study aims to identify the risk factors associated with neural tube defects among mothers who gave birth in North Shoa Zone Hospitals. METHODS: A hospital based unmatched case-control study was conducted among 243 (81 cases and 162 controls) study participants in North Shoa Zone Hospitals. The hospitals were selected using simple random sampling and all cases and randomly selected controls in the selected hospitals were included in the study. The data were collected by using pre-tested structured questionnaire. RESULTS: Different factors were identified to have association with neural tube defect. Family annual cash income less than 24000ETB (AOR: 3.73, 95%CI: 1.35, 10.26), history of still birth (AOR: 3.63, 95%CI: 1.03, 12.2), history of abortion (AOR: 6.15, 95%CI: 2.63, 18.56), preconception tea use (AOR: 2.36, 95%CI: 1.15, 4.86) and pesticides/chemical exposure (AOR: 5.34, 95%CI: 1.77, 16.05) were positively associated factors. In contrast, preconception care (AOR: 0.14, 95%CI: 0.05, 0.39) and taking iron/folic acid/multivitamin during the current pregnancy (AOR: 0.16, 95%CI: 0.07, 0.33) showed a protective effect. CONCLUSION: Family annual income less than 24000ETB, history of still birth, history of abortion, preconception tea uses and pesticides/chemical exposure were associated factors of neural tube defects. Preconception counseling and screening should be recommended for women who plan for pregnancy.


Assuntos
Mães/estatística & dados numéricos , Defeitos do Tubo Neural/diagnóstico , Aborto Induzido , Adulto , Estudos de Casos e Controles , Suplementos Nutricionais , Etiópia/epidemiologia , Feminino , Humanos , Renda , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/etiologia , Praguicidas/toxicidade , Cuidado Pré-Concepcional , Gravidez , Fatores de Risco , Natimorto , Adulto Jovem
12.
BMC Pediatr ; 21(1): 190, 2021 04 21.
Artigo em Inglês | MEDLINE | ID: mdl-33882899

RESUMO

BACKGROUND: Neural tube defects are common congenital anomalies that result from early malformation in the development of the spinal cord and brain. It is related to substantial mortality, morbidity, disability, and psychological and economic costs. The aim of this review is to determine the pooled birth prevalence of neural tube defects and associated risk factors in Africa. METHODS: The first outcome of this review was the pooled birth prevalence of the neural tube defects and the second outcome was the pooled measure of association between neural tube defects and associated risk factors in Africa. We systematically searched PubMed, PubMed Central, Joanna Briggs Institute, Google Scopus, Cochrane Library, African Journals Online, Web of Science, Science Direct, Google Scholar, and Medline databases. The heterogeneity of studies was assessed using the Cochrane Q test statistic, I2 test statistic, and, visually, using Forest and Galbraith's plots. A random-effect model was applied to get the pooled birth prevalence of neural tube defects. Subgroup, sensitivity, meta-regression, time-trend, and meta-cumulative analyses were undertaken. The fixed-effect model was used to analyze the association between neural tube defects and associated risk factors. RESULTS: Forty-three studies with a total of 6086,384 participants were included in this systematic review and meta-analysis. The pooled birth prevalence of the neural tube defects was 21.42 (95% CI (Confidence Interval): 19.29, 23.56) per 10,000 births. A high pooled birth prevalence of neural tube defects was detected in Algeria 75 (95% CI: 64.98, 85.02), Ethiopia 61.43 (95% CI: 46.70, 76.16), Eritrea 39 (95% CI: 32.88, 45.12), and Nigeria 32.77 (95% CI: 21.94, 43.59) per 10,000 births. The prevalence of neural tube defects has increased over time. Taking folic acid during early pregnancy, consanguineous marriage, male sex, and substance abuse during pregnancy were assessed and none of them was significant. CONCLUSIONS: The pooled birth prevalence of neural tube defects in Africa was found to be high. The risk factors evaluated were not found significant.


Assuntos
Defeitos do Tubo Neural , Etiópia , Feminino , Humanos , Masculino , Defeitos do Tubo Neural/epidemiologia , Nigéria , Gravidez , Prevalência , Fatores de Risco
13.
Birth Defects Res ; 113(12): 968-980, 2021 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-33754462

RESUMO

BACKGROUND: Few data are available on the prevalence of neural tube defects (NTDs) within different ethnic communities of the United Kingdom. This study aimed to calculate prevalence estimates for NTD-affected pregnancies, classified by maternal ethnicity, and to explore why variations in prevalence might exist. METHODS: A cross-sectional study was performed with data from regional congenital anomaly registers in England and Wales, for NTD-affected pregnancies between 2006 and 2011. Using binomial regression models, we examined NTD-affected pregnancy prevalence estimates and rate ratios (PRRs), by maternal ethnicity. RESULTS: The prevalence of NTDs was 12.14 per 10,000 births, with no differences between study years. Anencephaly, encephalocele and spina bifida occurred at 4.98, 1.37 and 5.80 per 10,000 births respectively. Mothers of Indian ethnicity were 1.84 times more likely (95% CI: 1.24, 2.73) and Bangladeshi mothers 2.86 times more likely (95% CI: 1.48, 5.53) than White mothers to have an NTD-affected pregnancy, after adjusting for maternal deprivation and maternal age. The excess prevalence in Indian mothers was specifically for anencephaly (PRR 2.57; 95% CI: 1.52, 4.34), and in Bangladeshi mothers the trend was for increased spina bifida (PRR 3.86; 95% CI: 0.72, 8.69). Anencephaly in Indian mothers was especially associated with other congenital anomalies (non-isolated NTDs). CONCLUSIONS: Different British ethnic groups vary in NTD prevalence. The excess prevalence of anencephaly as a non-isolated NTD in pregnancies of Indian mothers could indicate involvement of genetic or other unmeasured behavioral factors. Future work is needed to seek etiological explanations for the ethnicity differences and to develop improved methods for primary prevention.


Assuntos
Anencefalia , Defeitos do Tubo Neural , Anencefalia/epidemiologia , Estudos Transversais , Grupos Étnicos , Feminino , Humanos , Defeitos do Tubo Neural/epidemiologia , Gravidez , Prevalência
14.
BMC Pediatr ; 21(1): 124, 2021 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-33722213

RESUMO

BACKGROUND: Neural tube defects (NTDs) are a group of birth defects that result from a partial or complete failure of the neural tube to close during embryogenesis. Their prevalence varies between 0.5 to 2 per 1000 births in countries without folic acid supplementation. The aim of our study is to assess the NTDs incidence and describe the risk factors within Moroccan newborn infants. METHOD: This is a descriptive study over a period of 5 and a half years including all births at "Les Orangers" Maternity and Reproductive Health Hospital of Rabat with notification of NTD cases, whether isolated or combined with other anomalies. Data were reported on pre-established sheets and on the teratovigilance registry. Statistical analysis was performed with SPSS version 18 statistical software. RESULTS: During the study period, 43,923 births were recorded including 44 cases of neural tube defects, an incidence rate of 1 per 1000 births, with a female predominance; sex ratio = 0.8. These defects included anencephaly (50%), spina bifida (38.6%) and encephalocele (11.4%). The risk factors detected during this study include consanguinity (34%), consumption of fenugreek or other plants (36%), diabetes (4.5%) and medication (2.2%). A family history of malformation was reported in 6.8% of cases and among siblings in 4.5% of cases. The average maternal age was 30.38 ± 6.88 and the average gestational age was 36.80 ± 5.11. A quarter of mothers did not benefit from any medical monitoring during pregnancy while 59% did not take folic acid supplementation during the first trimester of pregnancy and none of them took B9 vitamin during the periconceptional period. The antenatal diagnosis was performed in 63% of cases. The mortality rate was 3.8 per 10,000 and 16% of cases evolved positively. CONCLUSION: NTDs require high intensity and multidisciplinary care which stresses the importance, in our context, of strengthening and optimizing acid folic supplementation strategies during the periconceptional period.


Assuntos
Anencefalia , Defeitos do Tubo Neural , Anencefalia/epidemiologia , Feminino , Ácido Fólico , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Defeitos do Tubo Neural/epidemiologia , Gravidez , Prevalência , Fatores de Risco
16.
BMC Pediatr ; 21(1): 66, 2021 02 05.
Artigo em Inglês | MEDLINE | ID: mdl-33546634

RESUMO

BACKGROUND: This study aimed to retrospectively analyze the correlation between congenital abnormality of the urogenital system and various factors in children with neural tube defects (NTDs). METHODS: A total of 190 children with congenital NTDs, who were admitted to a hospital from May 2013 to May 2018, were included into the present study. All admitted children with congenital NTDs were carried out routine abdominal B-ultrasound examinations to determine the malformations of the abdominal organs, including the urinary system. Children with a B-ultrasound result of suspected and unsure malformation underwent intravenous pyelography (IVP) and voiding cysto-urethrography (VCU), and this was further confirmed by the CT results. RESULTS: The incidence of urogenital malformation was 12.1% (23/190) in children with congenital NTDs. For the 23 children with urogenital malformations, most of these children had no definite urinary system symptoms, while some of these children had multiple incidences of urinary system infections. CONCLUSIONS: Congenital NTDs are often combined with urogenital malformations, if not specifically searched these may be overlooked. The early detection of these malformations is beneficial to reduce the risk of operation and improve the prognosis.


Assuntos
Anormalidades Congênitas , Defeitos do Tubo Neural , Anormalidades Urogenitais , Criança , China/epidemiologia , Humanos , Incidência , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/epidemiologia , Estudos Retrospectivos , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/epidemiologia
17.
Public Health Nutr ; 24(8): 1989-1992, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33557995

RESUMO

OBJECTIVE: Mandatory fortification of bread flour with folic acid has helped to reduce the incidence of neural tube defects in several countries. However, it has been suggested that folic acid may have potential adenoma-promoting effects, and reports from some countries have suggested that mandatory folic acid food fortification programmes have increased the incidence of colorectal cancer. The objective of this study was to evaluate colorectal cancer incidence patterns before and after introduction of mandatory folic acid fortification of bread flour in Australia in 2009. DESIGN: Data from the Australian Cancer Database were used to plot age-standardised incidence of colorectal cancer. We calculated age-adjusted rate ratios with 95 % CIs. SETTING: Australia. PARTICIPANTS: We used population-level aggregate data obtained from cancer registries. RESULTS: Age-standardised colorectal cancer incidence generally decreased between 1999 and 2016. Although there was a slight increase in rates in 2010 compared with 2009 (62·8 v. 61·6 cases per 100 000, age-adjusted rate ratio 1·02 (95 % CI 0·99, 1·04), joinpoint regression indicated decreases of -0·4 % (95 % CI -0·7, 0·0) per year from 1999 to 2010 and -2·2 % (95 % CI -3·1, -1·3) per year from 2010 to 2016. CONCLUSIONS: While causation cannot be assessed from these population-level data, our observations indicate that there is no evidence that introduction of mandatory folic acid fortification of bread flour has influenced colorectal cancer incidence in Australia.


Assuntos
Neoplasias Colorretais , Defeitos do Tubo Neural , Austrália/epidemiologia , Pão , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/prevenção & controle , Farinha , Ácido Fólico , Alimentos Fortificados , Humanos , Incidência , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/prevenção & controle
18.
Medicina (Kaunas) ; 57(2)2021 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-33525390

RESUMO

Uncertainty analysis is the process of identifying limitations in knowledge and evaluating their implications for scientific conclusions. Uncertainty analysis is a stable component of risk assessment and is increasingly used in decision making on complex health issues. Uncertainties should be identified in a structured way and prioritized according to their likely impact on the outcome of scientific conclusions. Uncertainty is inherent to the rare diseases (RD) area, where research and healthcare have to cope with knowledge gaps due to the rarity of the conditions; yet a systematic approach toward uncertainties is not usually undertaken. The uncertainty issue is particularly relevant to multifactorial RD, whose etiopathogenesis involves environmental factors and genetic predisposition. Three case studies are presented: the newly recognized acute multisystem inflammatory syndrome in children and adolescents associated with SARS-CoV-2 infection; the assessment of risk factors for neural tube defects; and the genotype-phenotype correlation in familial Mediterranean fever. Each case study proposes the initial identification of the main epistemic and sampling uncertainties and their impacts. Uncertainty analysis in RD may present aspects similar to those encountered when conducting risk assessment in data-poor scenarios; therefore, approaches such as expert knowledge elicitation may be considered. The RD community has a main strength in managing uncertainty, as it proactively develops stakeholder involvement, data sharing and open science. The open science approaches can be profitably integrated by structured uncertainty analysis, especially when dealing with multifactorial RD involving environmental and genetic risk factors.


Assuntos
COVID-19/epidemiologia , Febre Familiar do Mediterrâneo/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Doenças Raras/epidemiologia , Síndrome de Resposta Inflamatória Sistêmica/epidemiologia , Incerteza , Causalidade , Febre Familiar do Mediterrâneo/genética , Genótipo , Humanos , Conhecimento , Fenótipo , Doenças Raras/etiologia , Medição de Risco , Fatores de Risco , SARS-CoV-2
19.
Environ Int ; 150: 106425, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33581418

RESUMO

OBJECTIVE: To examine the role of total mercury (T-Hg) in placenta as a biomarker of prenatal mercury (Hg) exposure and determine the association between prenatal Hg exposure and risk for neural tube defects (NTDs) in offspring. METHODS: Total Hg concentrations in placental tissue were detected in 408 NTD cases and 593 healthy controls enrolled in Shanxi province in northern China. Methylmercury (MeHg) and T-Hg were also detected in the umbilical cord of 147 NTD cases and 140 healthy controls. In addition, MeHg and T-Hg were detected in fetal kidney, liver, and brain tissues of 51 NTD cases. Spearman's rank correlation (rs) was used to evaluate the correlations between placental T-Hg and T-Hg in umbilical cord and fetal kidney, liver, and brain tissues. The Wilcoxon rank-sum test was used to compare T-Hg amounts between case and control groups. Logistic regression was used to examine the association between placental T-Hg and risk for NTDs. RESULTS: Placental T-Hg was significantly correlated with T-Hg in umbilical cord (rs = 0.479), kidney (rs = 0.718), liver (rs = 0.656), and brain (rs = 0.512) tissues (all p < 0.001). The median (25th percentile-75th percentile) concentration for placental T-Hg in the NTD case group was 8.91 (5.00-17.1) ng/g dry weight (d.w.), significantly higher than that in the healthy control group (4.99 [3.26-7.93] ng/g d.w., p < 0.001). After adjusting for potential confounders, higher levels of T-Hg in placenta were associated with increased risk for NTDs in offspring (OR = 1.76, 95% CI: 1.13-2.76), and a dose-response relationship was found (p < 0.001). CONCLUSION: The concentration of T-Hg in placenta is a good biomarker for estimating prenatal Hg exposure, which is associated with increased risk for NTDs.


Assuntos
Exposição Materna/efeitos adversos , Mercúrio , Compostos de Metilmercúrio , Defeitos do Tubo Neural , Biomarcadores , China/epidemiologia , Feminino , Humanos , Recém-Nascido , Mercúrio/análise , Mercúrio/toxicidade , Compostos de Metilmercúrio/toxicidade , Defeitos do Tubo Neural/induzido quimicamente , Defeitos do Tubo Neural/epidemiologia , Gravidez
20.
Lancet HIV ; 8(1): e33-e41, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33387477

RESUMO

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.


Assuntos
Infecções por HIV/complicações , Inibidores de Integrase de HIV/efeitos adversos , Compostos Heterocíclicos com 3 Anéis/efeitos adversos , Defeitos do Tubo Neural/etiologia , Oxazinas/efeitos adversos , Piperazinas/efeitos adversos , Piridonas/efeitos adversos , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/etiologia , Adulto , Terapia Antirretroviral de Alta Atividade/efeitos adversos , Brasil/epidemiologia , Comorbidade , Feminino , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Infecções por HIV/virologia , Inibidores de Integrase de HIV/administração & dosagem , Inibidores de Integrase de HIV/uso terapêutico , Compostos Heterocíclicos com 3 Anéis/administração & dosagem , Compostos Heterocíclicos com 3 Anéis/uso terapêutico , Humanos , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Oxazinas/administração & dosagem , Oxazinas/uso terapêutico , Piperazinas/administração & dosagem , Piperazinas/uso terapêutico , Gravidez , Resultado da Gravidez , Piridonas/administração & dosagem , Piridonas/uso terapêutico , Estudos Retrospectivos , Natimorto , Adulto Jovem
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