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AIM: In various experimental animal studies, it has been proven that solanine, a subtype of glycoalkaloids, is responsible for neural tube defects. However, there have not been any human studies yet in this area. Our aim is to investigate whether there are any connections between blood glycoalkaloid levels and anencephaly in humans. METHODS: Blood and amniotic fluid samples were taken from patients diagnosed with fetal anencephaly during pregnancy. The samples from patients with normal pregnancies were taken as well and was compared to the patients with fetal anencephaly during pregnancy. We searched the levels of three glycoalkaloids: solanine, chaconine and solamargine in the collected samples. RESULTS: Solanine, which is one of the glycoalkaloids, could not be detected in both serum and amniotic fluid in the anencephaly as well as the control groups. However, alpha-solamargine levels were observed to be significantly higher in the blood and amniotic fluid samples of the control group than in the study group (p = 0.04). Alpha-chaconine levels were also significantly higher in the control group (p < 0.001) as well. CONCLUSION: Based on our tests, we can conclude that no connections were found between blood solanine levels and anencephaly during pregnancy. Alpha-chaconine and alpha-solamargine levels were observed to be higher in blood and amniotic fluid in pregnancies without anencephaly. The relationship between glycoalkaloids and congenital anomalies needs to be further investigated in tissues other than blood.
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BACKGROUND: When a pregnant mother finds out she has a fetus with a congenital defect, the parents feel profound worry, anxiety, and melancholy. Anomalies can happen in singleton or twin pregnancies, though they are more common in twin pregnancies. In twins, several congenital defects are typically discordant. We present a rare case of concordant fatal anomaly in twin pregnancy in a 22-year-old African patient primigravida mother from Western Ethiopia who presented for routine antenatal care. An obstetric ultrasound scan showed anencephaly, meningomyelocele, and severe ventriculomegaly. After receiving the counseling, the patient was admitted to the ward, and the pregnancy was terminated with the medical option. Following a successful in-patient stay, she was given folic acid supplements and instructed to get preconception counseling before getting pregnant again. CONCLUSION: The case demonstrates the importance of early obstetric ultrasound examination and detailed anatomic scanning, in twin pregnancies in particular. This case also calls for routine preconceptional care.
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Anencefalia , Gravidez de Gêmeos , Ultrassonografia Pré-Natal , Humanos , Feminino , Gravidez , Adulto Jovem , Anencefalia/diagnóstico por imagem , Meningomielocele/diagnóstico por imagem , Ácido Fólico/uso terapêutico , Ácido Fólico/administração & dosagem , Hidrocefalia/diagnóstico por imagem , EtiópiaRESUMO
Conjoined twins are rare congenital malformations that have been reported in mammals. Two different cases are presented in this study. Case No. 1 features monocephalic, thoracopagus-conjoined twin piglets with anencephaly and palatoschisis of the Pietrain breed, and case No. 2 features monocephalic, thoracopagus conjoined twin piglets with palatoschisis and bifid root tongue of a mixed breed. These cases were examined using post-mortem and computed tomography (CT) examinations. In both cases, the conjoined symmetrical twins had a single head, one neck, and fused thoracic cavities, while the abdominal cavities were separated. Similarly, in both cases, they had four forelimbs and four hindlimbs and duplicated foramen magnum. During CT examination, in case No. 1, severe abnormalities were observed in the skull and vertebral column. In the left twin, occult dysraphism was seen from the C2 vertebra until the end of the vertebral column, and in the right twin, from the C3 vertebra until the end of the state vertebral level. In case No. 2, the oral cavity contained a tongue with a bifid root connected with one hyoid bone, and the soft palate presented a small cleft. During CT examination, the parietal bone and the occipital bones were partially duplicated. This case also presented occult dysraphism, but only in the cervical vertebrae, C1-C6 for the left twin and C1-C5 for the right twin. In both cases, abnormalities of the internal organs were revealed during necropsy. Conjoined twins with multiple congenital anomalies presented here enhance our understanding of the various clinical forms of conjoined cases in veterinary medicine.
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BACKGROUND: On May 29, 2023, the 76th World Health Assembly (WHA) unanimously adopted the resolution entitled, "Accelerating efforts for preventing micronutrient deficiencies and their consequences, including spina bifida and other neural tube defects, through safe and effective food fortification." The Society for Birth Defects Research and Prevention published their resolution in 2015 supporting mandatory fortification of staple foods with folic acid and recommendations aiming to achieve global total prevention of folate-sensitive spina bifida and anencephaly, setting a goal to achieve by the year 2024. The WHA resolution provides another global push for the cause, with recommendations to member nations for food fortification to be achieved by the year 2030. METHODS: This short communication documents the steps, from inception up to the passage, of the 76th WHA resolution on food fortification, with a narrative on the nature of strategic advocacy efforts by multiple governmental and nongovernmental organizations. RESULTS: WHA resolutions can take many years to be introduced and passed by the assembly; however, this is a case study of the swiftness of the process enabled by powerful global partnership. CONCLUSION: The documentation of this process serves as an example for developing and processing future WHA resolutions aiming to improve global maternal and child health.
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Alimentos Fortificados , Saúde Global , Micronutrientes , Defeitos do Tubo Neural , Humanos , Defeitos do Tubo Neural/prevenção & controle , Micronutrientes/deficiência , Ácido Fólico , Organização Mundial da Saúde , Cooperação InternacionalRESUMO
BACKGROUND: Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification. METHODS: Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000-2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied. RESULTS: Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8-1.5 for all NTDs combined, 0.6-2.0 for spina bifida, and 0.7-1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7-1.1, 0.5-1.5, and 0.6-1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null. CONCLUSIONS: Using community- and individual-level data from a large, US, population-based, case-control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.
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Desinfecção , Água Potável , Exposição Materna , Defeitos do Tubo Neural , Humanos , Feminino , Água Potável/efeitos adversos , Defeitos do Tubo Neural/etiologia , Defeitos do Tubo Neural/epidemiologia , Gravidez , Exposição Materna/efeitos adversos , Exposição Materna/estatística & dados numéricos , Desinfecção/métodos , Adulto , Estudos de Casos e Controles , Desinfetantes/efeitos adversos , Desinfetantes/análise , Purificação da Água/métodos , Trialometanos/análise , Trialometanos/efeitos adversos , Masculino , Poluentes Químicos da Água/análise , Poluentes Químicos da Água/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal , Disrafismo Espinal/etiologia , Disrafismo Espinal/epidemiologiaRESUMO
Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet gestations are recognized for their propensity to bring about a spectrum of pregnancy related complexities, encompassing fetal structural abnormalities, neurological anomalies, disturbances in amniotic fluid levels, preterm labor, and suboptimal neonatal outcomes. Anencephaly is a serious congenital defect where the brain and skull do not fully develop, often leading to a poor prognosis. It's a preventable neural tube defect (NTD) with timely intake of folic acid, is caused by the incomplete closure of the neural tube during fetal development, resulting in the absence of the cerebrum (responsible for thinking and coordination) and the front part of the brain (forebrain) in affected infants. While anencephaly in a triplet is scarcely reported, spontaneous reabsorption of an anencephalic fetus in utero is a rare and unexpected event, with no documented cases in triplet pregnancies until now. We report a case of anencephaly in a triplet pregnancy where the mother presented late during her third trimester, the reabsorption of the anencephalic fetus in utero is an unprecedented event, highlighting the unique nature of this triplet pregnancy.
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Introduction and importance: Neural tube defect occurs as a result of failure of spontaneous closure of the neural tube between the third and fourth weeks of foetal life. Exencephaly is a rare malformation of the neural tube characterized by a large amount of protruding brain tissue in the absence of the calvarium. Case presentation: The authors report a 29-year-old female, non-compliant to iron, calcium and folic acid tablets due to nauseating and itchy sensation after intake for 2 weeks, was admitted in ward Obstetrics ward in view of twin pregnancy. After proper counselling, she was advised for caesarean section, which revealed gross malformation in the form of cleft lip, cleft palate and exposed brain tissue covered by thin layer of membrane with incompletely formed cranial vault and multiple-haematoma and ulcerations in the exposed brain tissue suggestive of Exencephaly. The deformed baby survived for 2 days after birth while the other baby was grossly healthy. Clinical discussion: Exencephaly is said to be the embryological precursor anomaly of anencephaly. Exencephaly is a type of cranial malformation that characteristically involves a large disorganized mass of brain tissue. The flat bones of calvaria are absent and the brain mass is left uncovered. This condition is incompatible with life. Conclusion: Each and every pregnant lady must be advised to undergo ultrasonography in every trimester, especially second trimester scan (anomaly scan) to diagnose any gross congenital malformations. Each pregnant lady is suggested to take the necessary vitamins (like folic acid) to avoid any Neural tube defects.
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In the changing legal environment of obstetric care in the USA, with laws in many states banning termination at all stages of pregnancy with narrow exemptions, healthcare providers are encountering cases in which risk to maternal safety is increased. This report presents a case of a 28-year-old primigravida with an anencephalic fetus who was legally unable to pursue termination in her home state. She traveled to another state in order to pursue safe and legal abortion of a non-viable fetus. Due to an unrecognized cornual ectopic gestation, the delivery resulted in uterine rupture, the need for hysterectomy, and significant morbidity in a patient with a strong desire for future fertility.
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Gravidez Ectópica , Gravidez , Feminino , Humanos , Adulto , Gravidez Ectópica/cirurgia , Aborto Legal , HisterectomiaRESUMO
OBJECTIVES: To investigate whether the induction-to-expulsion interval during second-trimester medication abortion in pregnancies complicated by anencephaly or other fetal anomalies is prolonged compared to pregnancies without fetal anomalies STUDY DESIGN: This was a retrospective cohort study of women who had second-trimester medication abortion at St. Paul's Hospital Millennium Medical College (Addis Ababa, Ethiopia). We assigned subjects to one of three groups based on fetal diagnosis: 1) anencephaly group, 2) other congenital anomaly group, and 3) no anomaly group. Data were collected by reviewing patients' charts. We used SPSS version 23 to analyze the data. Simple descriptive analysis and χ2 test were performed as appropriate. RESULTS: A total of 303 women had second-trimester medication at 14-28 weeks, of which 58 had anencephaly, 19 had congenital anomalies other than anencephaly, and the remaining 226 had no fetal anomalies. The mean induction-to-expulsion interval was 18.4 hours in the anencephaly group versus 19.4 hours in the other congenital anomaly group versus 19.2 hours in those without anomaly (p-value = 0.924). The 24-hour nonexpulsion rate was also comparable among the groups, with 5.25% rate of nonexpulsion in the anencephaly group versus 15.8% in the other congenital anomaly group versus 11.15% in the no anomaly group (p-value = 0.594). In multivariable regression analysis after controlling for parity, the 24-hour nonexpulsion rate was not significantly different. CONCLUSIONS: In this study, pregnancies undergoing second-trimester medication abortion for fetal anomalies had comparable induction-to-expulsion interval and 24-hour expulsion rates compared to those who had the same procedure for other or no anomalies. IMPLICATIONS: Second-trimester medication abortion procedure length in pregnancies complicated by anencephaly is similar to those pregnancies without anomalies.
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Aborto Induzido , Anencefalia , Gravidez , Humanos , Feminino , Segundo Trimestre da Gravidez , Aborto Induzido/métodos , Estudos Retrospectivos , EtiópiaRESUMO
PURPOSE: Neural tube defects (NTDs) are one of the most common congenital anomalies and a cause of chronic disability. The study was done to study outcomes of neural tube defects admitted at a tertiary level neonatal intensive care unit (NICU) from 2018 to 2022, a period of 4 years that also coincided with the COVID pandemic. The secondary outcome was to study the clinical presentation, associated anomalies and epidemiological features. METHODS: It was a retrospective observational study; data of infants was obtained from medical records and analysis was done. RESULTS: Thirty-four neonates were enrolled, of which there were 16 (47%) males and 18 (53%) females. History of pre-pregnancy maternal folate intake was present in 4 (11.7%) cases. 33 (97%) babies were diagnosed with meningomyelocele (MMC) and one each had anencephaly, iniencephaly and encephalocele, of which one had frontal and two had occipital encephalocele. The median age of surgery was 16 days of life with primary repair being the most common procedure followed by MMC repair with VP shunt. Twenty babies (58.8%) were discharged successfully, while 9 (26.5%) expired and 5 (14.7%) were discharged against medical advice; which can be attributed to the financial problems of the patients in a developing country. The overall deaths in our series were four (26.5%) which is slightly higher than other studies which may be due to the fact that this study was conducted during the COVID era with lesser rates of folate supplementation, reduced access to prenatal diagnosis coupled with poor follow-up and compliance of patients post-surgical repair. CONCLUSION: This study emphasizes the importance of periconceptional folic acid supplementation, prenatal diagnosis, early surgery and meticulous follow-up as being pivotal to improving outcomes in children with NTDs.
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Anencefalia , Meningomielocele , Defeitos do Tubo Neural , Gravidez , Masculino , Recém-Nascido , Lactente , Feminino , Criança , Humanos , Unidades de Terapia Intensiva Neonatal , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/cirurgia , Ácido Fólico , Meningomielocele/cirurgia , Anencefalia/diagnóstico , Encefalocele/diagnósticoRESUMO
Exposure to pesticides during pregnancy has been associated with several serious congenital malformations, such as neural tube defects, therefore, is a cause for concern in terms of human health. This review aims to gather information related to maternal exposure during pregnancy and the risk of triggering neural tube defects in the offspring. The search strategy for the studies followed the PRISMA guidelines. We conducted a systematic search in the Science Direct, PubMed, Cochrane Library, Embase, Scopus, and Web of Science databases for all epidemiological studies that sought to associate exposure to pesticides during embryonic development with the risk of neural tube defects (NTDs). The keywords used were "pesticide", "herbicide", "congenital" and "neural". Of the 229 articles, 8 eligible ones (7 case-control and 1 cross-sectional) evaluated pesticide exposure in pregnancy. Different methods were used, including analysis of biological samples and questionnaires. The pesticides studied included insecticides, herbicides, fungicides, and nematicides. Insecticides were the most studied, with variations in concentrations between tissues and studies. Distinct levels of pesticides have been detected in maternal serum, placenta, and umbilical cord. Models were statistically adjusted for confounding factors, such as smoking and dietary supplement intakes. Concentrations were measured in different exposure windows (periconception and prenatal), related to NTDs such as anencephaly and spina bifida. Different data collection techniques, types of biological samples, and exposure windows were used, which made comparison difficult. The main pesticides studied included DDT, DDE, HCH, and endosulfan. Maternal serum showed the highest concentrations of pesticides, but detection in placental tissue and umbilical cord confirms embryonic exposure. Confounding variables were adjusted for in the analysis of the articles, but they may still contribute to the risk of NTDs. All the studies analyzed pesticide exposure and the relationship with NTDs. However, a more standardized survey would be ideal for better comparisons.
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Herbicidas , Inseticidas , Defeitos do Tubo Neural , Praguicidas , Feminino , Humanos , Gravidez , Praguicidas/toxicidade , Praguicidas/análise , Estudos Transversais , Placenta/química , Defeitos do Tubo Neural/induzido quimicamente , Defeitos do Tubo Neural/epidemiologia , Fatores de RiscoRESUMO
Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present anencephaly in a stillborn male kitten from an accidental inbreeding using various paraclinical methods. Histological examination of tissue samples from the cranial region, where parts of the skull were absent, revealed the presence of atypical nerve tissue with neurons and glial cells organized in clusters, surrounded by an extracellular matrix and with an abundance of blood vessels, which are large, dilated, and filled with blood, not characteristic of nerve tissue structure. In CT scans, the caudal part of the frontal bone, the fronto-temporal limits, and the parietal bone were observed to be missing. CT also revealed that the dorsal tubercle of the atlas, the dorsal neural arch, and the spinal process of the C2-C7 bones were missing. In conclusion, the kitten was affected by multiple congenital malformations, a combination of exencephaly-anencephaly, maxillary brachygnathism, closed cranial spina bifida at the level of cervical vertebrae, kyphoscoliosis, palatoschisis, and partial intestinal atresia. The importance of employing imaging techniques cannot be overstated when it comes to the accurate diagnosis of neural tube defects.
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La anencefalia es una anomalía gestacional que produce la ausencia de gran parte del cerebro y del cráneo; aunque se desconoce el motivo principal de su aparición, puede estar relacionado con toxinas ambientales, y pobre ingesta de ácido fólico durante el embarazo. Los fetos que padecen de esta malformación, en su mayoría, no llegan a nacer vivos o mueren a las pocas horas. Se presentó una paciente recibida en emergencia en el Centro de Atención Integral Materno Infantil, municipio Ixchiguan, departamento de San Marcos, Guatemala con embarazo a término, según refirió la paciente, sin atención prenatal, dolor en hipogastrio y pérdida de líquido amniótico de un día de evolución. Siendo este un defecto genético multifactorial, para el cual no existe tratamiento, el único recurso para su prevención fue brindar una atención prenatal pormenorizada con énfasis especial en el programa de genética para la detección precoz de anomalías congénitas.
Anencephaly is a gestational anomaly that produces the absence of a large part of the brain and skull; although the main reason for its appearance is unknown, it may be related to environmental toxins and poor intake of folic acid during pregnancy. Most of the fetuses that suffer from this malformation are not born alive or die within a few hours. We present a female patient who was received in the emergency service of the Comprehensive Maternal and Child Care Center in Ixchiguan municipality, San Marcos department, Guatemala, with a full-term pregnancy, as reported by the patient, without prenatal care, hypogastric pain and loss of amniotic fluid of one day of evolution. Since there is no treatment for this multifactorial genetic defect, the only resource for its prevention was to provide detailed prenatal care with special emphasis on the genetics program for the early detection of congenital anomalies.
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Anormalidades Congênitas , Sistema Nervoso Central , AnencefaliaRESUMO
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.
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Anencefalia , Meningomielocele , Defeitos do Tubo Neural , Gravidez , Feminino , Humanos , Anencefalia/epidemiologia , Anencefalia/prevenção & controle , Ácido Fólico , Meningomielocele/epidemiologia , Prevalência , Farinha , Argentina/epidemiologia , Triticum , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/etiologia , Defeitos do Tubo Neural/prevenção & controle , Morte Fetal/etiologiaRESUMO
Neural tube defects (NTDs), including anencephaly and spina bifida, are common major malformations of fetal development resulting from incomplete closure of the neural tube. These conditions lead to either universal death (anencephaly) or severe lifelong complications (spina bifida). Despite hundreds of genetic mouse models of neural tube defect phenotypes, the genetics of human NTDs are poorly understood. Furthermore, pharmaceuticals, such as antiseizure medications, have been found clinically to increase the risk of NTDs when administered during pregnancy. Therefore, a model that recapitulates human neurodevelopment would be of immense benefit to understand the genetics underlying NTDs and identify teratogenic mechanisms. Using our self-organizing single rosette cortical organoid (SOSR-COs) system, we have developed a high-throughput image analysis pipeline for evaluating the SOSR-CO structure for NTD-like phenotypes. Similar to small molecule inhibition of apical constriction, the antiseizure medication valproic acid (VPA), a known cause of NTDs, increases the apical lumen size and apical cell surface area in a dose-responsive manner. GSK3ß and HDAC inhibitors caused similar lumen expansion; however, RNA sequencing suggests VPA does not inhibit GSK3ß at these concentrations. The knockout of SHROOM3, a well-known NTD-related gene, also caused expansion of the lumen, as well as reduced f-actin polarization. The increased lumen sizes were caused by reduced cell apical constriction, suggesting that impingement of this process is a shared mechanism for VPA treatment and SHROOM3-KO, two well-known causes of NTDs. Our system allows the rapid identification of NTD-like phenotypes for both compounds and genetic variants and should prove useful for understanding specific NTD mechanisms and predicting drug teratogenicity.
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Anencefalia , Defeitos do Tubo Neural , Disrafismo Espinal , Gravidez , Feminino , Humanos , Camundongos , Animais , Ácido Valproico/farmacologia , Anencefalia/complicações , Anencefalia/genética , Glicogênio Sintase Quinase 3 beta/genética , Camundongos Knockout , Defeitos do Tubo Neural/induzido quimicamente , Defeitos do Tubo Neural/genética , Disrafismo Espinal/genética , Encéfalo/patologia , Proteínas dos MicrofilamentosRESUMO
BACKGROUND: Laparoscopic cholecystectomy at the time of cesarean section is novel in medicine. It is safe, feasible, and cost-effective. CASE PRESENTATION: A 29-year-old G3P2 + 0 woman had two previous cesarean sections. She was pregnant at 32 weeks. The fetus had anencephaly. She had acute cholecystitis. Laparoscopic cholecystectomy done at the time of termination of pregnancy by cesarean section. CONCLUSIONS: In a critical period, such as acute cholecystitis, the combination of laparoscopic cholecystectomy immediately post cesarean section is effective if the surgeon is highly qualified and experienced.
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Anencefalia , Colecistectomia Laparoscópica , Colecistite Aguda , Complicações na Gravidez , Gravidez , Humanos , Feminino , Adulto , Cesárea/efeitos adversos , Colecistectomia Laparoscópica/efeitos adversos , Colecistite Aguda/etiologia , Colecistite Aguda/cirurgia , Complicações na Gravidez/cirurgiaRESUMO
BACKGROUND: Neural tube defects continue to be one of the main congenital malformations affecting the development of the nervous system and a significant cause of disability and disease burden to individuals living with these conditions. Mandatory food fortification with folic acid is, by far, one of the most efficacious, safe, and cost-effective interventions to prevent neural tube defects. However, most countries fail to effectively fortify staple foods with folic acid, impacting public health and healthcare systems and generating dismal disparities. AIM: This article discusses the main barriers and facilitators for implementing mandatory food fortification as an evidence-based policy to prevent neural tube defects worldwide. METHODS: A comprehensive review of the scientific literature allowed the identification of the determinant factors acting as barriers or facilitators for the reach, adoption, implementation, and scaling up of mandatory food fortification with folic acid as an evidence-based policy. RESULTS: We identified eight barriers and seven facilitators as determinant factors for food fortification policies. The identified factors were classified as individual, contextual, and external, inspired by the Consolidated Framework for Implementation of Research (CFIR). We discuss mechanisms to overcome obstacles and seize the opportunities to approach this public health intervention safely and effectively. CONCLUSIONS: Several determinant factors acting as barriers or facilitators influence the implementation of mandatory food fortification as an evidence-based policy worldwide. Notoriously, policymakers in many countries may lack knowledge of the benefits of scaling up their policies to prevent folic acid-sensitive neural tube defects, improve the health status of their communities, and promote the protection of many children from these disabling but preventable conditions. Not addressing this problem negatively affects four levels: public health, society, family, and individuals. Science-driven advocacy and partnerships with essential stakeholders can help overcome the barriers and leverage the facilitators for safe and effective food fortification.
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Ácido Fólico , Defeitos do Tubo Neural , Criança , Humanos , Ácido Fólico/uso terapêutico , Alimentos Fortificados , Defeitos do Tubo Neural/prevenção & controle , Saúde Pública , PolíticasRESUMO
BACKGROUND: Congenital anomalies are the fifth most common cause of neonatal mortality in Nicaragua, and neural tube defects (NTDs) are the most common of all cases of lethality associated with a birth defect. Prevalence and mortality estimates are needed to propose effective intervention strategies that prevent NTDs over time. METHODS: A cross-sectional study was carried out in northwestern Nicaragua from January 2006 to December 2018. All cases of NTDs (anencephaly, spina bifida, and encephalocele) were registered in hospital surveillance systems, and the medical histories of the mothers and newborns were reviewed. Prevalence was calculated by considering the number of live births and stillbirths older than 20 weeks of gestation with NTDs, divided by the total number of live births and stillbirths in each study year. Neonatal mortality rate (NMR) for NTD, and case fatality for spina bifida was calculated. RESULTS: Two hundred fifty cases of NTDs were identified from 178,498 deliveries (177,316 live births and 1,182 stillbirths). The prevalence of NTDs during this time period was 14.01 (95% CI: 12.27-15.74) per 10,000 births. The prevalence of spina bifida (n = 140), anencephaly (n = 97), and encephalocele (n = 13) was 7.84, (95% CI: 6.54-9.14), 5.43 (95% CI: 4.30-6.45), and 0.73 (95% CI: 0.33-1.12) per 10,000 births, respectively. Mothers with fetus or newborns affected with NTDs did not use folic acid prior to conception, and 11% experienced periods of hyperthermia during the first trimester of pregnancy. NMR for NTDs was 0.55 per 1.000 livebirths. Case fatality for all NTDs and for spina bifida were 55% and 18%, respectively. CONCLUSION: The prevalence and mortality of NTDs in the northwestern region of Nicaragua present peaks and troughs during the study period. Spina bifida was the most frequent type of NTD. We believe that these findings could be of use by health policy makers to strengthen the primary prevention of NTDs in the region through the monitoring of the food fortification policy and folic acid supplementation to women of childbearing age. Additional etiologic studies of NTDs should be considered to identify additional prevention measures.