Recurrent tethered cord: outcome and follow-up of 20 de-thetering for symptomatic spina bifida: choort study.

OBJECTIVE: The objective of this study was to evaluate the prevalence of tethered cord among patients in the postoperative period of open and occult spina bifida. To identify warning signs for its early diagnosis, as well as outcomes after the new surgical approach. METHODS: Retrospective study of patients followed at the Pediatric Neurosurgery Department of the Federal University of São Paulo with spinal dysraphism. Signs and symptoms indicating reoperation were collected, and postoperative results were classified as improved, unchanged, or worsened. RESULTS: 222 medical records of patients diagnosed with spinal dysraphism were evaluated. Symptomatic Tethered Cord Syndrome (STCS) was identified in 30 patients (13.51%), with clinical manifestations related to orthopedic deformities (66.7%), neurological deficits (56.7%), urological dysfunction (50%), and intestinal dysfunction (40%). 20 cases underwent surgery for tethered cord release. The mean age at the time of surgery was 7.7 ± 4.9 years, with 13 female patients (65%). In the postoperative evaluation, improvement in low back pain (90.9%), urological pattern, and urinary tract infection episodes (45.4%) were particularly noteworthy. 3 patients (33.3%) with constipation showed improvement, and one worsened (11.1%). Improvement in ambulation was seen in two cases (16.7%). Low back pain was the first symptom to improve after surgery, with an average time of 1.3 months, followed by changes in the urological pattern at 15.6 months. Improvement in constipation was observed in the first month in 2 cases (66.7%), positive changes in ambulation were observed around 7 months after surgery, and only one case showed improvement in clubfoot correction. CONCLUSIONS: The prevalence of tethered cord recurrence after primary correction surgery for open or occult neural tube closure defects was similar to that found in the literature. The results were encouraging, with good postoperative evolution of patients, especially in the improvement of low back pain and urological symptoms.

Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves.

Two 1-day-old full-term female calves from different farms located in the Brazilian state of Rio Grande do Sul were unable to stand due to paresis of the pelvic limbs. Both calves had spina bifida on the spinal lumbar segment and were submitted to euthanasia due to poor prognosis. Postmortem examination revealed cerebellar herniation, caudal displacement of the brainstem, rostral deviation of the cranial nerves, caudal extension of occipital lobes, absence of dorsal lamina of lumbar vertebrae with exposed spinal cord, myelodysplasia, kyphosis, segmental spinal agenesis, renal fusion, muscular atrophy, and arthrogryposis. Histology highlighted myelodysplasia (syringomyelia and diplomyelia) and muscular atrophy. The reverse transcription-polymerase chain reactions for ruminant pestivirus were negative. Based on these lesions, the diagnosis of complex neural tube and skeletal malformations was made. A review of previous publications on calves diagnosed with these malformations, originally called Chiari or Arnold-Chiari malformations, revealed a wide range of nervous system and skeletal lesions. These variations amplified the uncertainty regarding whether all cases represent the same disorder and reinforced the importance of reconfiguring the terminology.

The impact of a biocellulose-based repair of fetal open spina bifida on the need to untether the cord: is it time to unify techniques for prenatal repair?

OBJECTIVE: To report the need for cord untethering after prenatal repair of open spina bifida using a unique biocellulose-based technique performed at a later gestational age. METHODS: An observational cohort study was conducted to determine the incidence of tethered cord syndrome. Between May 2013 and May 2022, we performed 172 procedures using the percutaneous fetoscopic approach in fetuses at 26-28 weeks of gestation. After placode dissection, a biocellulose patch was placed to cover the placode, a myofascial flap (when possible) was dissected, and the skin was closed. Owing to death or loss to follow-up, 23 cases were excluded. Cord tethering syndrome was defined as symptoms of medullary stretching, and the infants were evaluated and operated on by local neurosurgeons after an magnetic resonance imaging examination. Infants over 30-month had ambulation and neurodevelopment evaluations (PEDI scale). RESULTS: Among 172 cases operated at a median gestational age of 26.7 weeks and delivered at 33.2 weeks, 149 cases were available for postnatal follow-up, and cord untethering was needed in 4.4% of cases (6/136; excluding 13 cases younger than 12 months). Cerebrospinal fluid diversion and bladder catheterization were needed in 38% and 36% of cases, respectively. Of the 78 cases evaluated at 30 months, 49% were ambulating independently, and 94% had normal social function. CONCLUSION: The biocellulose-based technique was associated with a low rate of cord tethering, wich may be attributed to the lack of the duramater suture during prenatal repair, the formation of a neoduramater and/or later gestational age of surgery.

Neural tube defects and epigenetics: role of histone post-translational histone modifications.

Neural tube defects (NTDs) are the most common congenital anomalies of the CNS. It is widely appreciated that both genetic and environmental factors contribute to their etiology. The inability to ascribe clear genetic patterns of inheritance to various NTD phenotypes suggests it is possible that epigenetic mechanisms are involved in the etiology of NTDs. In this context, the contribution of DNA methylation as an underlying contributing factor to the etiology of NTDs has been extensively reviewed. Here, an updated accounting of the evidence linking post-translational histone modifications to these birth defects, relying heavily upon studies in humans, and the possible molecular implications inferred from reports based on cellular and animal models, are presented.

"Prevalence and secular trend of neural tube defects in fetal deaths in Argentina, 1994-2019".

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.

Prevalencia de defectos congénitos folato-sensibles en la provincia de Villa Clara / Prevalence of folate-sensitive birth defects in Villa Clara province

Introducción: Los defectos congénitos son un problema global que anualmente afecta a 7,9 millones de recién nacidos, los cuales constituyen la primera causa de muerte en los países desarrollados, y la segunda en países en vías de desarrollo, como es el caso de Cuba. Objetivos: Determinar la prevalencia de defectos congénitos folato-sensibles entre nacidos vivos, nacidos muertos e interrupciones electivas del embarazo. Métodos: Se realizó un estudio descriptivo y transversal en la provincia de Villa Clara donde se incluyeron todos los casos con defectos congénitos folato-sensibles diagnosticados entre 2013 y 2018. Resultados: Las cardiopatías congénitas conotruncales, el síndrome Down y los defectos del tubo neural fueron los fenotipos clínicos más prevalentes. La tasa de prevalencia ajustada fue de 5,79 por 1 000 nacimientos. Se constató una mayor tasa de prevalencia entre nacidos muertos y se interrumpió el 43,26 % de los embarazos con defectos diagnosticados prenatalmente. Las mayores tasas de prevalencia ajustada de cardiopatías y hendiduras labiopalatinas se identificaron en los municipios de Corralillo y Quemado de Güines, mientras que Placetas tuvo las mayores tasas de defectos del tubo neural y síndrome Down, y Manicaragua las de gastrosquisis. Conclusiones: La mayor frecuencia de defectos congénitos entre nacidos muertos puede estar en relación con la gran expresividad variable de los defectos estudiados, donde se incluyen fenotipos clínicos de gravedad. En los diferentes municipios con elevadas tasas de prevalencia de estos defectos están involucrados diferentes factores de riesgo ambientales que actúan sobre un genotipo que predispone a estos defectos congénitos.

Introduction: congenital defects are a global problem, annually affecting 7.9 million newborns. They constitute the leading cause of death in developed countries and the second one in developing countries like Cuba. Objective: to determine the prevalence of folate-sensitive birth defects among live births, stillbirths and elective pregnancy terminations. Methods: a descriptive and cross-sectional study was carried out in Villa Clara province, where all cases with folate-sensitive birth defects diagnosed between 2013 and 2018 were included. Results: conotruncal congenital heart diseases, Down syndrome and neural tube defects were the most prevalent clinical phenotypes. The adjusted prevalence rate was 5.79 per 1,000 births. A higher prevalence rate was found among stillbirths and 43.26% of pregnancies with prenatally diagnosed defects were terminated. The highest rates of adjusted prevalence of cleft lip and palate and heart diseases were identified in Corralillo and Quemado de Güines municipalities, while Placetas had the highest rates of neural tube defects and Down syndrome, as well as Manicaragua those of gastroschisis. Conclusions: the higher frequency of congenital defects among stillbirths may be related to a highly variable expressivity of the studied defects, where serious clinical phenotypes are included. Different environmental risk factors acting on a genotype that predisposes these congenital defects are involved in the different municipalities with high prevalence rates of these defects.

Opciones quirúrgicas para la cobertura de defectos del cierre del tubo neural. Serie de casos / Surgical options for coverage of neural tube closure defects. Case series

Introducción. Los defectos del tubo neural (DNT) son la segunda causa más prevalente de malformaciones congénitas, solo detrás de las cardiopatías congénitas. Los DTN abiertos comprenden el 80% de estas malformaciones. El mielomeningocele es el defecto abierto más común del tubo neural. La mayoría de los defectos son lo suficientemente pequeños como para soportar un cierre por primera o por segunda intención, pero el cierre primario puede no ser posible en aproximadamente 25% de los casos, lo cual es evidente en defectos grandes. Pacientes y métodos. El trabajo a continuación tiene como objetivo mostrar la experiencia en el manejo quirúrgico posnatal a través de una serie de caso con 3 pacientes con diagnóstico de defectos de cierre del tubo neural en distintas localizaciones anatómicas sometidos a cirugía en forma conjunta entre el Servicio de Neurocirugía y Cirugía Plástica del Parque de la Salud en la ciudad de Posadas Misiones. Resultados. En nuestra serie los colgajos realizados para la cobertura de mielomeningoceles fueron eficaces, evolucionando en primera instancia con complicaciones menores. La resolución del caso de encefalocele occipital con un colgajo miocutáneo de trapecio diferido resultó ser una opción válida y confiable. Conclusión. El uso de colgajos regionales para la reconstrucción de este tipo de malformaciones congénitas es una opción válida y reproducible, con bajo porcentaje de complicaciones.

Introduction. Neural tube defects (NTD) are the second most prevalent cause of congenital malformations, only behind congenital heart defects. Open NTDs comprise 80% of these malformations. Myelomeningocele is the most common open neural tube defect. Most defects are small enough to support a first or second intention closure, but primary closure may not be possible in approximately 25% of cases, being evident in large defects. Patients and methods. The following work aims to show the experience in postnatal surgical management through a case series with 3 patients diagnosed with neural tube closure defects in different anatomical locations undergoing joint surgery between the Neurosurgery and Plastic Surgery Service of Parque de la Salud in the city of Posadas, Misiones. Results. In our series, the flaps made to cover myelomeningoceles were effective, evolving in the first instance with minor complications. Resolution of the occipital encephalocele case with a delayed trapezius myocutaneous flap proved to be a valid and reliable option. Conclusion. The use of regional flaps for the reconstruction of this type of congenital malformations is a valid and reproducible option, with a low percentage of complications.

Barriers and facilitators to the implementation of mandatory folate fortification as an evidence-based policy to prevent neural tube defects.

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.

Neural tube defects: Prevalence, mortality, and maternal characteristics in two departmental hospitals in the northwestern region of Nicaragua, 2006-2018.

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.

Prevented cases of neural tube defects and cost savings after folic acid fortification of flour in Brazil.

Anencephaly, encephalocele, and spina bifida are congenital neural tube defects and are the main causes of neonatal morbidity and mortality and impose a heavy economic burden on health systems. This study to estimates the direct costs of neural tube defects from the perspective of the Brazilian Ministry of Health, and the prevented cases and cost savings during the period in which mandatory folic acid fortification was in effect in the country (2010-2019). It is a top-down cost-of-illness oriented study based on the prevalence of the disorders in Brazil. Data were collected from the Brazilian Ministry of Health's outpatient and hospital information system databases. The direct cost was estimated from the total patient-years, allocated by age and type of disorder. Prevented cases and cost savings were determined by the difference in the prevalence of the disorders in the pre- and post-fortification periods based on the total number of births and the sum of outpatient and hospital costs during the period. The total cost of outpatient and hospital services for these disorders totaled R$ 92,530,810.63 (Int$ 40,565,896.81) in 10 years; spina bifida accounted for 84.92% of the total cost. Hospital costs were expressive of all three disorders in the first year of the patient's life. Between 2010 and 2019, mandatory folic acid fortification prevented 3,499 live births with neural tube defects and resulted in R$ 20,381,586.40 (Int$ 8,935,373.25) in hospital and outpatient cost savings. Flour fortification has proved to be a valuable strategy in preventing pregnancies with neural tube defects. Since its implementation, there has been a 30% decrease in the prevalence of neural tube defects and a 22.81% decrease associated in hospital and outpatient costs.

Integrated surveillance strategy to support the prevention of neural tube defects through food fortification with folic acid: the experience of Costa Rica.

PURPOSE: (1) To describe how Costa Rica implemented an integrated surveillance strategy of folate deficiency, neural tube defects (NTDs) prevalence, NTDs-associated infant mortality rate (NTDs-IMR), and folic acid food fortification (FAFF), to support with evidence NTDs prevention policies; (2) to disseminate updated data from monitoring programs. METHODS: We performed a cross-sectional analysis, using the databases of national surveillance systems for NTDs outcomes to compare NTDs-prevalence and NTDs-IMR observed in the pre-fortification (1987-1998) and post-fortification (2010-2020) periods. In addition, using data from FAFF monitoring program (2010-2020), means of folic acid concentration (mg/kg) and folic acid daily intake (µg/day) were calculated for each fortified food (corn and wheat flour, rice and milk), as well as its contribution to folic acid estimated average requirement (EAR). RESULTS: After FAFF Costa Rica showed a decrease of 84% in folic acid deficiency in women of childbearing age, as well as a 53% decrease in the prevalence of NTDs, falling from 11.82/10,000 to 5.52/10,000 livebirths. In addition, there was a 76% reduction in the NTDs-IMR from 77.01/100,000 to 18.66/100,000 livebirths. Between 2010 and 2020, all fortified foods provided an average contribution of 119% of the EAR of folic acid in the population. CONCLUSION: To reduce NTD risk, an integrated surveillance strategy is essential not only to base prevention strategies on evidence, but also to demonstrate their impact and improve interventions over time. The experience in Costa Rica provides evidence that this type of surveillance is feasible to be implemented in developing countries.

Understanding the Role of ATP Release through Connexins Hemichannels during Neurulation.

Neurulation is a crucial process in the formation of the central nervous system (CNS), which begins with the folding and fusion of the neural plate, leading to the generation of the neural tube and subsequent development of the brain and spinal cord. Environmental and genetic factors that interfere with the neurulation process promote neural tube defects (NTDs). Connexins (Cxs) are transmembrane proteins that form gap junctions (GJs) and hemichannels (HCs) in vertebrates, allowing cell-cell (GJ) or paracrine (HCs) communication through the release of ATP, glutamate, and NAD+; regulating processes such as cell migration and synaptic transmission. Changes in the state of phosphorylation and/or the intracellular redox potential activate the opening of HCs in different cell types. Cxs such as Cx43 and Cx32 have been associated with proliferation and migration at different stages of CNS development. Here, using molecular and cellular biology techniques (permeability), we demonstrate the expression and functionality of HCs-Cxs, including Cx46 and Cx32, which are associated with the release of ATP during the neurulation process in Xenopus laevis. Furthermore, applications of FGF2 and/or changes in intracellular redox potentials (DTT), well known HCs-Cxs modulators, transiently regulated the ATP release in our model. Importantly, the blockade of HCs-Cxs by carbenoxolone (CBX) and enoxolone (ENX) reduced ATP release with a concomitant formation of NTDs. We propose two possible and highly conserved binding sites (N and E) in Cx46 that may mediate the pharmacological effect of CBX and ENX on the formation of NTDs. In summary, our results highlight the importance of ATP release mediated by HCs-Cxs during neurulation.

Influence of social, demographic, and clinical factors in live births with spinal dysraphism in Brazil: an ecological study of 21 years.

OBJECTIVES: This study aimed to verify possible associations between sociodemographic and clinical factors in live births with spinal dysraphism. METHODS: An analytical (descriptive and inferential) and ecological study was carried out based on secondary data of 11,308 live births with spinal dysraphism registered in the Live Birth Information System (SINASC) in Brazil from 1999 to 2019. Demographic factors analyzed were age, education, mothers' marital status and geographic region. The clinical factors analyzed were duration, gestation period, birthweight, and number of prenatal visits performed by women who underwent medical follow-up. RESULTS: There was an increase in the number of cases of spinal dysraphism in recent years in Brazil with an annual percentage variation of 3.52%. However, the period from 2005 to 2009 showed a reduction in live births with spinal dysraphism. The regions with the highest incidence were the South and Southeast. The risk increased in mothers born after 1980, older than 30 years and with a high level of education. The risk was increased in live births of whites and blacks, born from double pregnancy and with body weight less than 3000 g. The absence of prenatal care was associated with a higher incidence. CONCLUSION: Sociodemographic and clinical factors have specific characteristics that can predict spinal dysraphism in newborns in Brazil.

Glycemic and nonglycemic mechanisms of congenital malformations in hyperglycemic pregnancies: a narrative review.

Congenital malformations are more frequently found among children born to mothers with diabetes than in the background population. There are several complex mechanisms involved in the development of congenital malformations in the offspring of mothers with hyperglycemia, such as the overexpression of glucose transporters (GLUTs) 1 and 2, the increased activity of the hexosamine biosynthetic pathway and the reduced expression of the PAX3 gene with a consequent increase in p53 protein expression. These alterations can lead to increased glucose and free radical concentrations in the embryo, thus promoting the process of apoptosis and causing malformation. The most frequent malformations found in the offspring of mothers with diabetes are heart and neural tube defects, urinary tract and kidney malformations, and cleft lip with or without cleft palate. Strict glycemic control should be obtained before and during pregnancy, aiming to avoid or minimize the risk of congenital malformations in the offspring. Beyond hyperglycemia, several factors may also be associated with increased risks of malformations in the offspring of these women, such as obesity, multiple pregnancies, advanced maternal age, folic acid deficiency, use of angiotensin converting enzyme inhibitors and angiotensin receptor blockers, assisted reproduction techniques, and exposure to different types of environmental pollutants.

Neural tube defects and uterus development in human fetuses.

One of the most common malformations of the central nervous system is related to embryonic neural tube alterations. We hypothesized that anencephaly affects the development of the uterus during the human second trimester of pregnancy. The objective of this study was to study the biometric parameters of the uterus in fetuses with anencephaly and compare them with normocephalic fetuses at that important. In our study, 34 female fetuses were analyzed, 22 normal and 12 anencephalic, aged between 12 and 22 weeks post-conception (WPC). After dissection of the pelvis and individualization of the genital tract, we evaluated the length and width of the uterus using the Image J software. We compared the means statistically using the Wilcoxon-Mann-Whitney test and performed linear regression. We identify significant differences between the uterus length (mm)/weight (g) × 100 (p = 0.0046) and uterus width (mm)/weight (g) × 100 (p = 0.0013) when we compared the control with the anencephalic group. The linear regression analysis indicated that 80% significance was found in the correlations in normocephalic fetuses (12.9 to 22.6 WPC) and 40% significance in anencephalic fetuses (12.3 to 18.6 WPC). The measurements of the uterus were greater in anencephalic group but there are no difference in the uterine width and length growth curves during the period studied. Further studies are required to support the hypothesis suggesting that anencephaly may affect uterine development during the human fetal period.

Anomalías congénitas frecuentes en Uruguay entre 2011 y 2014: importancia de un registro para la evaluación de las necesidades de salud / Frequent congenital anomalies in Uruguay in 2011-2014; importance of a medical record for health assessment / Anomalias congênitas frequentes no Uruguai entre 2011-2014, importância de um registro para avaliação das necessidades de saúde

Introducción: las anomalías congénitas (AC) son un problema de salud pública con impacto en la infancia, la mortalidad infantil (MI) y la discapacidad. En Uruguay, así como en otros países desarrollados, las AC y la prematuridad son las principales causas de MI. Objetivos: el objetivo de este trabajo fue analizar las anomalías más frecuentes en el país entre 2011 y 2014, y evaluar los factores de riesgo. Material y método: los datos se obtuvieron del Registro Nacional de Defectos Congénitos y Enfermedades Raras y Estadísticas Vitales del Ministerio de Salud Pública. Resultados: se determinó que prácticamente la mitad de los casos fueron: cardiopatías congénitas, síndrome de Down y defectos del tubo neural (anencefalia, encefalocele y mielomeningocele), representando 0,42% (812/191.820) y 2,85% (38/1334) de los nacidos vivos (NV) y de los óbitos fetales respectivamente. Las prevalencias por 10.000 NV y OF fueron: 38,52 y 149,93 para cardiopatías congénitas; 3,6 y 7,5 para síndrome de Down; 2,1 y 127,4 para defectos del tubo neural. La edad materna avanzada fue el principal factor de riesgo de síndrome de Down. Los factores de riesgo observados en las tres anomalías seleccionadas fueron: prematurez, depresión neonatal y bajo peso al nacer. Conclusiones: las anomalías congénitas en general y las seleccionadas en este trabajo en particular, constituyen una causa relevante de morbimortalidad en el período neonatal e infantil, plausibles de prevención. El diagnóstico temprano es fundamental para planificar servicios de salud especializados. Los resultados aquí presentados se pueden utilizar como línea de base para medir el impacto de las acciones de salud a nivel nacional.

Introduction: congenital anomalies (CA) are a public health problem with an impact on childhood, infant mortality (IM) and disability. In Uruguay, as well as in other developed countries, CA and prematurity are the main causes of IM. Objectives: analyze the most frequent anomalies in the country in 2011-2014 and evaluate risk factors. Material and methods: the data were obtained from the National Record of Congenital Defects and Rare Diseases and health statistics from the Ministry of Public Health. Results: it was determined that practically half of the cases were: congenital heart disease, Down syndrome and Neural Tube Defects (anencephaly, encephalocele and myelomeningocele), accounting for 0.42% (812/191,820) and 2.85% (38/1334) of live births and stillbirths respectively. The prevalence per 10,000 NV and stillbirths were: 38.52 and 149.93 for Congenital Heart Disease; 3.6 and 7.5 for Down Syndrome; 2.1 and 127.4 for neural tube defects. Advanced maternal age was the main risk factor for Down syndrome. The risk factors observed in the three selected anomalies were: prematurity, neonatal depression and low birth weight. Conclusions: congenital anomalies in general, and those selected in this study in particular, are a relevant cause of morbidity and mortality in newborns and infants, likely to be prevented. Early diagnosis is essential for planning specialized health services. The results presented in the present paper can be used as a baseline to measure the impact of health actions at national level.

Introdução: as anomalias congênitas (AC) são um problema de saúde pública com impacto na infância, na mortalidade infantil (MI) e na deficiência. No Uruguai, assim como em outros países desenvolvidos as AC e prematuridade são as principais causas de MI. Objetivos: analisar as anomalias mais frequentes no país, entre 2011-2014 e avaliar os fatores de risco. Material e métodos: os dados foram obtidos do Registro Nacional de Defeitos Congênitos e Doenças Raras e estatísticas vitais do Ministério da Saúde Pública. Resultados: determinou-se que praticamente a metade dos casos eram: cardiopatias congênitas, Síndrome de Down e Defeitos do tubo neural (anencefalia, encefalocele e mielomeningocele), representando 0,42% (812/191.820) e 2,85% (38/1334) de nascidos vivos-NV e natimortos, respectivamente. As prevalências por 10.000 NV e natimortos foram: 38,52 e 149,93 para Cardiopatia Congênita; 3,6 e 7,5 para Síndrome de Down; 2,1 e 127,4 para defeitos do tubo neural. A idade materna avançada foi o principal fator de risco para a síndrome de Down. Os fatores de risco observados nas três anomalias selecionadas foram: prematuridade, depressão neonatal e baixo peso ao nascer. Conclusões: as anomalias congênitas em geral e as selecionadas neste estudo em particular, constituem causa relevante de morbimortalidade no período neonatal e infantil, possível de ser prevenida. O diagnóstico precoce é fundamental para o planejamento de serviços de saúde especializados. Os resultados aqui apresentados podem ser usados como base para medir o impacto das ações de saúde realizadas a nível nacional.

Lipomielomeningocele y médula anclada en un neonato: a propósito de un hallazgo cutáneo / Lipomyelomeningocele and tethered cord in neonate: a cutaneous finding / Lipomielomeningocele e medula ancorada em rescem nacido: um achado cutâneo

Introducción: el disrafismo espinal oculto comprende las anomalías congénitas caracterizadas por la fusión incompleta del tubo neural, en las que la lesión se encuentra cubierta por piel sin observarse exposición del tejido nervioso. Existen estigmas cutáneos que se asocian a su presencia, siendo los lipomas congénitos en la línea media posterior altamente sugerentes de lesión espinal. Su principal complicación es la asociación con el síndrome de médula anclada, que puede causar un daño neurológico irreversible. Caso clínico: recién nacida de sexo femenino, durante la exploración en Maternidad detectamos un estigma cutáneo del tipo lipoma en la región sacra sospechoso de disrafismo espinal oculto, confirmándose posteriormente, mediante estudio con ecografía y resonancia magnética, la presencia de lipomielomeningocele y médula anclada. Conclusiones: el reconocimiento de los marcadores cutáneos, que constituyen a veces la única manifestación de la enfermedad en pacientes asintomáticos, posibilitaría un diagnóstico precoz y manejo individualizado con posible corrección quirúrgica según el caso, que podría prevenir el daño neurológico irreversible asociado a la médula anclada.

Introduction: hidden spinal dysraphism involves congenital anomalies characterized by an incomplete fusion of the neural tube, where the lesion is covered by skin and the nervous tissue is not exposed. Some skin stigmas are linked with this spinal injury, mainly congenital lipomas in the posterior midline of the lesion. Hidden spinal dysraphism's main complication could be tethered cord syndrome, which can cause irreversible neurological damage. Clinical case: female newborn showing a lipoma-like skin stigma in the sacral region, looking like hidden spinal dysraphism, which was later confirmed through ultrasound and magnetic resonance imaging, which showed lipomyelomeningocele and a tethered cord. Conclusions: early detection of these skin markers is sometimes the only tool to early diagnosis and personalized treatment in asymptomatic patients. It enables a possible surgical remediation and may prevent the irreversible neurological damage linked to the tethered cord.

Introdução: o disrafismo espinhal oculto envolve anomalias congênitas caracterizadas por uma fusão incompleta do tubo neural, onde a lesão é coberta por pele e o tecido nervoso não fica exposto. Alguns estigmas de pele estão relacionados a essa lesão espinhal, principalmente lipomas congênitos na linha média posterior da lesão. A principal complicação do disrafismo espinhal oculto pode ser a síndrome da medula ancorada, a qual pode causar danos neurológicos irreversíveis. Caso clínico: recém-nascida apresenta estigma cutâneo semelhante a lipoma na região sacral, semelhante a disrafismo espinhal oculto, posteriormente confirmado por ultrassonografia e ressonância magnética, o que evidenciou lipomielomeningocele e medula ancorada. Conclusões: a detecção precoce desses marcadores cutâneos às vezes é a única ferramenta para o diagnóstico precoce e tratamento personalizado em pacientes assintomáticos. Permite uma possível correção cirúrgica e pode prevenir os danos neurológicos irreversíveis ligados à medula ancorada.

[Craniorachischisis: a case report]. / Craneorraquisquisis: reporte de un caso.

Background: Neural tube defects are a heterogeneous group of alterations of the central nervous system with multifactorial origin, mainly caused by a failure in the mechanisms of closure of the neural tube which involves skin, paravertebral muscles, connective tissue, bone and spinal cord. Clinical case: 36-year-old woman with a pregnancy of 25.3 weeks, corroborated by second trimester ultrasound. She had a previous pregnancy with anencephaly and a poor prenatal care in the actual pregnancy. An obstetric ultrasound was performed with the diagnosis of craniorachischisis, which is why the delivery was performed by vaginal birth with labor induction with prostaglandins. Conclusions: The craniorachischisis is a rare defect of the neural tube that must be diagnosed early because it is a pathology incompatible with life.

Introducción: los defectos del tubo neural son un grupo heterogéneo de alteraciones del sistema nervioso central, de origen multifactorial, principalmente ocasionados por una falla en los mecanismos de cierre del tubo neural, la cual involucra: piel, músculos paravertebrales, tejido conectivo, hueso y médula espinal. La craneorraquisquisis es la variante más grave y rara de los defectos del tubo neural. Caso clínico: Mujer de 36 años con un embarazo de 25.3 semanas, corroborado por ultrasonido del segundo trimestre, con el antecedente de un embarazo previo con anencefalia y mal control prenatal en el embarazo actual. Se le realizó un ultrasonido que diagnosticó craneorraquisquisis, por lo que se procedió a finalizar el embarazo por inducción de trabajo de aborto con prostaglandinas. Conclusiones: la craneorraquisquisis es un defecto raro del tubo neural que debe diagnosticarse tempranamente por ser una patología incompatible con la vida.

Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile.

BACKGROUND: In 2000, Chile's Ministry of Health mandated fortification of wheat flour with folic acid at a concentration of 2.2 mg/kg to prevent neural tube defects (NTDs), resulting in a 50% reduction in NTD prevalence. Concerns about possible collateral effects of high folic acid intake led, in 2009, to decrease the folic acid fortification to 1.8 mg/kg of flour. Our study evaluated the impact of this modification on the prevalence of NTDs in Santiago. METHODS: This study measured the prevalence of NTDs in live births and stillbirths born in Santiago. We calculated prevalence ratios (PR) and 95% confidence intervals (CI) between pre-folic acid fortification (1999-2000), post-folic acid fortification (2001-2009), and post-modified folic acid fortification (2010-2015) periods for all NTDs and their specific types. We used chi-square tests to analyze proportions, and a Joinpoint regression to visualize prevalence time trends. RESULTS: The NTD prevalence for the period 2001-2015 was 8.9 per 10,000 births, which represents a 48% reduction (PR = 0.52; 95% CI = 0.45-0.61; p < .001) from the pre-folic acid fortification period. During 2010-2015, the NTD prevalence was 9.5/10,000 births, which was higher, but not statistically significantly different from 2001 to 2009 prevalence of 8.6/10,000 (PR = 1.11; 95% CI = 0.96-1.30, p = .17). CONCLUSIONS: Decreasing the concentration of folic acid fortification was not associated with a statistically significant change in the prevalence of NTDs. Mandatory folic acid fortification continues to be a safe and highly effective policy to prevent NTDs. Future studies should evaluate the prevalence of NTDs across Chile and adherence to folic acid fortification mandates.

Vaginal development during 2nd gestational trimester: translational study in human female fetuses with disorders of the neural tube.

PURPOSE: One of the most common malformations of the central nervous system is related to embryonic neural tube alterations. We hypothesized that anencephaly affects the development of the vagina during the human second trimester of pregnancy. Our study compared the biometric parameters of the vagina in human female fetuses with neural tube defects. METHODS: In our study, 34 female fetuses were analyzed, 22 normal and 12 anencephalic, aged between 12 and 22 weeks post conception (WPC). After dissection of the pelvis and individualization of the genital tract, we evaluated the length and width of the vagina using the Image J software. We compared the means statistically using the Wilcoxon-Mann-Whitney test and performed linear regression. RESULTS: We do not identify statistical significance between the groups for the measurements of vaginal length (Control 3.12-18.33 mm/mean = 9.08 mm/SD +  - 3.77 vs. Anencephalic 2.91-13.10 mm/mean = 7.24 mm/SD +  - 2.28, p = 0.3469) and vaginal width (Control 1.04-4.86 mm/mean = 2.71 mm/SD + - 0.94 vs. Anencephalic 1.35-3.17 mm/mean = 2.13 mm/SD + - 0.65; p = 0.2503). The linear regression analysis indicated that 78.57% significance was found in the correlations in normocephalic fetuses and 57.14% significance in anencephalic fetuses (12.3-18.6 WPC). CONCLUSIONS: We do not find differences in the length and width of the vagina in anencephalic fetuses but the vaginal length and width shows a lesser tendency of growth in the anencephalic fetuses during the second trimester suggesting that anencephaly can impact the development of the vagina.