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.

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.

Craneorraquisquisis: reporte de un caso / Craniorachischisis: a case report

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.

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.

Intervenciones de prevención y tratamiento en recién nacidos con defectos del tubo neural / Prevention and treatment interventions in newborns with neural tube defects

Introducción: los defectos de tubo neural son anomalías congénitas del sistema nervioso central; estas malformaciones elevan el grado de morbimortalidad en los recién nacidos durante los diez primeros años de vida. Objetivo: definir las intervenciones que el profesional de enfermería puede realizar en el recién nacido con defectos del tubo neural tomando en cuenta aspectos de prevención y tratamiento. Material y métodos: se realizó una búsqueda sistematizada en las bases de datos de PudMed y BVS de julio-septiembre 2021, que incluyo artículos completos relacionados con intervenciones de enfermería a recién nacidos con defectos del tubo neural publicados entre 2016-2021 y artículos médicos de revisión literaria. Resultados: se seleccionaron 41 artículos para definir las intervenciones, a saber: a. intervenciones preventivas con el consumo de ácido fólico, control prenatal y educación sanitaria, b. intervenciones relacionadas al tratamiento enfocadas al cuidado de las derivaciones ventriculoperitoneales y cuidado de heridas quirúrgicas, c. intervenciones ante complicaciones. Discusión: las tasas de mortalidad y discapacidad infantil han incrementado en los últimos años a pesar de los avances en la medicina preventiva, por lo que toma relevancia el consumo de ácido fólico, educación sanitaria y métodos de cuidado hospitalarios. Conclusiones: la enfermera neonatal puede participar con cuidados estandarizados en beneficio de los recién nacidos considerando intervenciones para evitar retraso en el crecimiento y desarrollo de los hitos motores y cognitivos, reducir complicaciones y mejorar las posibilidades de una óptima condición de vida.

Introduction: neural tube defects are congenital anomalies of the central nervous system; These malformations increase the degree of morbidity and mortality in newborns during the first ten years of life. Objective: define the interventions that the nursing professional can be carried out in newborns with neural tube defects, considering aspects of prevention and treatment. Material and methods: systematized search was carried out in the databases of PudMed and BVS during July-September 2021, which included complete articles related to nursing interventions for newborns with neural tube defects published between 2016-2021 and medical literature review articles. Results: forty-one articles were selected to define the interventions: a. Preventive interventions in the consumption of folic acid, prenatal control and health education, b. Interventions related to treatment focused on the care of ventriculoperitoneal shunt and surgical wound care, c. interventions for complications. Discussion: infant mortality and disability rates have increased in recent years despite advances in preventive medicine, which is why the consumption of folic acid, health education and hospital care methods are relevant. Conclusions: neonatal nurse can participate with standardized care for the benefit of newborns, considering interventions to avoid delayed growth and development of motor and cognitive milestones, reduce complications and improve the chances of an optimal life condition.

Mielomeningocele: actualización para la práctica clínica / Myelomeningocele: update for clinical practice

El mielomeningocele es una de las malformaciones congénitas más frecuentes en Honduras, que se caracteriza por un cierre anormal de la lámina posterior de los cuerpos vertebrales, con la exposición de las estructuras nerviosas. El propósito de esta revisión fue recopilar información que apoye la práctica clínica oportuna en pacientes con mielomeningocele, especialmente en la literatura médica hondureña, reforzada con literatura de otras revistas médicas nacionales e internacionales, en la base de datos PubMed y LILACS, para el periodo 1985- 2018. En conclusión, dar un manejo oportuno proporciona un mejor pronóstico y calidad de vida a los pacientes con defectos del tubo neural...(AU)

Two cases of neural tube defects with dolutegravir use at conception in south Brazil

ABSTRACT Dolutegravir (DTG) is amongst the most prescribed antiretrovirals worldwide and is recommended as first line regimen in most HIV treatment guidelines. Its use, although infrequently, had been associated to an increased chance of neural tube defects (NTD) in Botswana, Africa. Herein we describe two cases of NTD in women who conceived while taking DTG as part of their antiretroviral treatment in the city of Porto Alegre, Brazil.

A importância do metilfolato na prevenção dos defeitos abertos do tubo neural / The importance of methylfolate in the prevention of open neural tube defects

A suplementação periconcepcional com vitamina B9 ou folato é considerada medida efetiva para diminuir a ocorrência e a recorrência de defeitos do tubo neural (DTNs). É recomendada para todas as mulheres que planejam gravidez ou que possam engravidar. O ácido fólico necessita passar por processos enzimáticos necessários à metabolização para a sua forma ativa L-5-metiltetrahidrofolato (L-metilfolato, 5-MTHF) envolvida nos processos biológicos e que circula no plasma. A enzima metilenotetrahidrofolato redutase (MTHFR) é de fundamental importância para fornecer 5-MTHF, forma biologicamente ativa. A presença de polimorfismo do gene da MTHF-redutase promove menor atividade enzimática e menor produção de L-metilfolato.(AU)

Maternal periconceptional folic acid supplementation and its effects on the prevalence of fetal neural tube defects / 北京大学学报(医学版)

OBJECTIVE@#To find out the status of folic acid supplementation among women, to evaluate the prevention effects on neural tube defects (NTDs), and to explore the factors impact on folic acid supplementation compliance.@*METHODS@#Based on the routine data of 92 121 women in prenatal health care and birth defect surveillance system in Tongzhou District of Beijing from 2013 to 2018, we described the prevalence of periconceptional folic acid supplementation, pre-pregnancy folic acid supplementation and regularly folic acid supplementation (compliance supplementation). Trend χ2 tests were used to evaluate the change of folic acid supplementation prevalence. The prevalence difference among the women with folic acid supplementation and without supplementation were tested with Fisher's exact test. Factors asso-ciated with folic acid supplementation compliance rate were analyzed with univariate and multivariate Logistic regression model.@*RESULTS@#The prevalence of periconceptional folic acid supplementation during the six years was 90.08% and it was increased from 2013 to 2018, but the rate of pre-pregnancy and regular supplementation was only 41.5% and declined from 2013 to 2018, especially 2013 to 2015. The prevalence of NTDs among the fetuses whose mothers took folic acid during periconceptional period was 5.5/10 000, while the prevalence for the fetuses whose mothers did not take folic acid was 19.7/10 000 (P < 0.001), the rates ratio was 27.9% (χ2=23.74, P < 0.001). The difference between the prevalence of NTDs among the fetuses whose mothers took folic acid only and multiple micronutrients was not statistically significant. After controlling the confounding factors, it was found that the compliant folic acid supplementation rates in women, whose household registrations were outside Beijing and whose education levels were junior high school or below, and who were younger than 25 years old, and who were multiparas and who were pre-pregnancy underweight or obese, were lower than those of the corresponding control groups (P < 0.05).@*CONCLUSION@#The rate of folic acid supplementation among women in Tongzhou District of Beijing was relatively high, but their compliance was poor. Women who did not take folic acid during periconception seriously affected the prevention effect of NTDs. We should focus on women who are younger than 25 years old, lower educated, pre-pregnancy underweight or obese, multiparas and nonlocal household registers, in order to improve the periconceptional folic acid supplementation compliance and improve the effects of NTDs prevention.

A review of the epidemiology, post-neurosurgical closure complications and outcomes of neonates with open spina bifida

Background. Spina bifida (SB) is a neural tube defect (NTD) that has an increased risk of fatal and disabling effects if not repaired early, i.e. within the first 24 to 48 hours of life. Its diagnosis holds an increased burden for the patient and the caregiver owing to secondary complications. The effects of the disease are detrimental even with early repair, because of the long-term disabling nature of the disease.Objective. This retrospective study aimed to assess the effects of demographics, immediate post-surgical complications and impact of time to surgical intervention on the outcome of neonates with open SB (OSB) admitted to the neonatal intensive care unit (NICU) at Inkosi Albert Luthuli Central Hospital (IALCH) in KwaZulu-Natal, South Africa (SA), between January 2011 and December 2015.Methods. A retrospective chart review was conducted at the NICU of IALCH. All neonates diagnosed with SB were identified. The study period was from 1 January 2011 to 31 December 2015. Data were collected from the IALCH electronic database. All neonates with SB admitted to the IALCH NICU were included; any patient who presented beyond the neonatal period (i.e. >28 days) was excluded from the study. Data collected included maternal demographics. Additionally, neonatal history was reviewed and post surgery complications evaluated. Outpatient management post discharge was reviewed.Results. One hundred and fifty neonates were included (58% male). The mean (standard deviation) maternal age was 26.7 (6.6) years. Only 10% had an antenatal diagnosis of OSB. Seventy-eight percent were born at term and 22% prematurely. The lumbar/sacral region was the most commonly affected. More males (14%) had thoraco/lumbar lesions than females (7.8%). Forty-eight percent presented before 3 days of life (early presentation). In the late-presentation group, there was an association with wound sepsis (p=0.003). Twenty-five percent were repaired between days 0 and 3 of life and 75% after 3 days. Postoperative complications in patients whose open SBs were repaired beyond 3 days of life were not statistically significant compared with those with early repair; all were p>0.05. There was a borderline association of prolonged hospitalisation with wound sepsis (p=0.07). Long-term outcomes showed that 68% had lower limb dysfunction, 18% urological complications, 14% limb deformity, and 11% hydrocephalus. A minority had psychomotor (7%) and developmental (15%) disorders. Ten percent required readmission secondary to shunt complications, and 7% died. Conclusion. SB remains a significant disease burden that affects outcome and survival of neonates in SA. Lack of good antenatal care, which includes early ultrasound and timely referral to centres, are barriers to good outcomes. Long-term follow-up is also necessary to prevent morbidity

Profile and management of central nervous system malformations in a tertiary hospital

Background: Central Nervous System (CNS) malformations rank among the commonest malformations. These may be identified in utero or noticed immediately after birth. Most studies showed Myelomeningocoele, a Neural Tube Defect (NTD) to be the commonest. Severe defects have a significant impact on long term disability. While some are preventable, most are surgically managed. Objective: To study the profile and management of CNS malformation in a tertiary hospital. Method: we undertook a 3-year retrospective study of the profile and surgical management, including the postoperative complications among Neonates admitted into the Special Care Baby Unit (SCBU). Data on place of delivery, Gender, Gestational age, Mode of delivery, Prenatal Diagnosis (Ultrasound Scan), types of malformations, types of surgeries, and postoperative complications were retrieved. Result: We found 71 patients with CNS anomalies (31.8% of all congenital anomalies), in delivery 10 (14.1%), out delivery 46(64.8%). Male=43, females=28. Term gestation 66 (93%), preterm 3(4.2%), post-term 2(2.8%). Delivered by Vagina (SVD) in 65(91.6%), Caesarean section 4(5.6%), and undocumented in 4(5.6%). Prenatal diagnosis in only 3(4.2%). Myelomeningocoele was 35(49.3%), meningocoele was 9(12.7%), Hydrocephalus was 18(25.3%), anencephaly was 1(1.4%), occipital Encephalocoele was 6(8.5%), Sincipital Encephalocoele was 2(2.8%). Operated on 53(75%), LAMA/lost to follow was 13(18%), preoperative death was 5(7%). Excision and closure of Neural Tube Defect were 34(64.2%), VP Shunt was 13(24.5%), Excision and closure of occipital Encephalocoele were 5(9.4%) craniofacial excision and repair of Sincipital Encephalocoele was 1(1.9%). CSF leak in 4(28.6%), wound infection in 3(21.4%), shunt infection and obstruction in 2(14.3%) each. meningitis, hypertrophied scar, and pseudo meningocoele in 1(7.1%) each. Conclusion: The commonest CNS anomaly is a Myelomeningocoele a preventable condition, Sincipital Encephalocoele is not common in our environment. Concomitant treatment of hydrocephalus averts post excision CSF Leak

Clinical study of 21 cases of sacral cysts containing fila terminale / 北京大学学报(医学版)

OBJECTIVE@#To summarize the characteristics of sacral cysts containing fila terminale and to explore the surgical treatment methods.@*METHODS@#The clinical features, imaging characteristics and surgical methods of 21 cases of sacral cysts containing fila terminale from July 2010 to March 2017 were reviewed and analyzed. Lumbosacral and perineal pain, weakness of the lower limbs and bladder and bowel dysfunction were the common clinical symptoms. MRI showed that the cysts located in the sacral canal. The lower T1 and higher T2 signals were found on MRI. There were fila terminale within the cysts which tethered the spinal cord. No enhancement was visible within the lesion. The key steps of operation included the resection of the cyst wall, the cutting off of the fila terminale, the release of the tethered cord and the reconstruction of the cisterna terminalis.@*RESULTS@#The total and subtotal resections of cyst walls were achieved in 14 and 7 cases, respectively. The fila terminales were separated and cut off in all the cases, and the tethered cords were released completely. The reconstructions of the cisterna terminalis were accomplished in all the cases. There was no new-onset dysfunction except for 7 cases of mild numbness around anus postoperatively. Pathological examinations confirmed that the cyst wall was fibrous connective tissue, and hyperplasia of fibrous tissue and/or adipose tissue was found within the thickened fila terminale. The lumbosacral and perineal pain disappeared. The weakness of the lower extremities and the bladder and bowel dysfunction gradually improved. The period of follow-up ranged from 3 months to 7 years (average: 2.25 years). The spinal function of all the patients restored to McCormick grade Ⅰ. Only 1 case encountered recurrence of cyst.@*CONCLUSION@#The sacral cysts containing fila terminale are rare. The common symptoms include lumbosacral and perineal pain and symptoms of tethered cord. MRI is helpful to the diagnosis, which shows the signal of cerebrospinal fluid and the fila terminale in the cyst as well as tlow-placed conus medullaris. Microsurgery should remove the cyst wall, cut off the fila terminale, release the tethered cord and reconstruct the cisterna terminalis.

Perfil epidemiológico de mortalidade por espinha bífida / Epidemiological profile of mortality from Spina Bifida

Objetivo: Avaliar o perfil epidemiológico nacional de mortalidade por espinha bífida. Métodos: Trata-se de estudo observacional, descritivo, de série temporal, a partir de dados obtidos da plataforma eletrônica do Departamento de Informática do Sistema Único de Saúde entre os anos de 2005 e 2015. Resultados: Nesse período, as proporções de óbitos infantis relacionados à espinha bífida diminuíram. As Regiões Sul e Sudeste mantiveramse abaixo da média nacional, e as demais permaneceram acima, corroborando o maior apoio técnico nas regiões consideradas referências em saúde no país. As maiores diminuições proporcionais nos coeficientes de mortalidade infantil ocorreram no Nordeste e no Centro-Oeste, de 351,55 a 155,56 e de 809,52 a 290,32, respectivamente. Isso pôde ser justificado por essas duas regiões apresentarem maiores proporções de óbitos. Conclusão: Com a atenuação de outras causas de mortalidade infantil, as malformações evidenciaram-se. O acompanhamento pré-natal, a adoção de estilo de vida saudável pelas gestantes e a prevenção dos fatores de risco para defeitos de fechamento do tubo neural, sobretudo pela suplementação com ácido fólico, merecem destaque na redução do número de óbitos infantis e na perpetuação da vida.

Objective: To evaluate the national epidemiological profile of mortality from Spina Bifida. Methods: This is an observational, descriptive study of a time series, based on data obtained from the electronic platform of the Department of Informatics of the Unified Health System (DATASUS) between 2005 and 2015. Results: In this period, the proportions of infantile deaths related to spina bifida decreased. The Southern and Southeastern regions remained below the national average, while the others remained above, resulting in a greater technical support from the regions considered health references in the country. The largest proportional decreases in infant mortality coefficients took place in the Northeast and Midwest, from 351.55 to 155.56, and from 809.52 to 290.32, respectively. This can be justified by the fact that these two regions have higher proportions of deaths. Conclusion: Because of the attenuation of other causes of infant mortality, the malformations were evidenced. Prenatal follow-up, the adoption of a healthy lifestyle by pregnant women, and the prevention of risk factors for neural tube defects, especially through folic acid supplementation, shall be highlighted for the reduction in the number of infant deaths, and for perpetuation of life

Cervical neurenteric cyst: a case report / Cisto neurentérico cervical: relato de caso / Quiste neurentérico cervical: reporte de un caso

ABSTRACT Objective Neurenteric cysts account for 0.7-1.3% of all spinal cord tumors. These rare lesions are composed of heterotopic endodermal tissue. Methods A 26-year-old woman with a 13-month history of severe cervicalgia and brachial paresthesia. Clinically she had mildbilateral brachial paresis (4/5), generalized hyperreflexia and a left Babinski Sign. Past medical history was significant for a cervical fistula closure when she was 1yearold. The superior somatosensory evoked potentials revealed medullary axonal damage with a left predominance. A cervical magnetic resonance imaging of the neck was performed showing a dorsal homogeneous cystic intradural extramedullary lesion with high signal intensity on T2. Computed tomography revealed a Klippel-Feil syndrome. Results A posterior laminectomy and surgical excision were performed without complications. Post-operative follow-up showed a complete recovery of arm strength. The histopathological report confirmed the preoperative diagnosis of neurenteric cyst. Most neurenteric cysts are located in the spine, mainly in a ventral position. A total of 95% of neurenteric cysts are found in the intradural/intramedullary compartment. Symptomatic neurenteric cysts typically appear in the second and third decades of life and are 1.5 to 3 times more common in men. In 50% of the cases, other vertebral malformations have also been reported. In this case, a congenital dorsal enteric cyst and a Klippel-Feil syndrome were observed. Conclusions The intraspinal neurenteric cysts are rare lesions that must be included in the differential diagnosis of a dorsal, intradural cystic structure. The diagnosis may be overlooked, especially in cases of chronic neck pain without neurological deficit. Level of evidence V; Expert Opinion.

RESUMO Objetivo Os cistos neurentéricos são responsáveis por 0.7 a 1.3% de todos os tumores da medula espinhal. Essas lesões raras são compostas por tecido endodérmico heterotópico. Métodos Uma mulher de 26 anos, com história de cervicalgia ao longo da vida, relatou história de 13 meses de piora da cervicalgia e parestesia braquial. Clinicamente, apresentava paresia braquial bilateral leve (4/5), hiperreflexia generalizada e um sinal de Babinski à esquerda. Na história médica pregressa, história de fechamento de fístula cervical com 1 ano de idade. Durante avaliação neurofisiológica, os potenciais evocados somatos-sensitivos superiores revelaram lesão axonal medular com predomínio à esquerda. Na ressonância magnética cervical, foi evidenciada uma lesão extra medular dorsal cística, intradural homogênea hiperintensa em T2. A tomografia computadorizada evidenciou síndrome de Klippel-Feil. Resultados A laminectomia posterior e a excisão cirúrgica foram realizadas sem complicações. O acompanhamento pós-operatório mostrou recuperação completa da força dos braços. O laudo histopatológico confirmou o diagnóstico pré-operatório de cisto neurentérico. A maioria dos cistos neurentéricos est ão localizados na coluna vertebral, principalmente em posição ventral, sendo 95% dos cistos neurentéricos encontrados no compartimento intradural e intramedular. Cistos neurentéricos sintomáticos aparecem tipicamente na segunda e na terceira décadas de vida e são 1,5 a 3 vezes mais comuns no sexo masculino. Em 50% dos casos, eles também foram relatados com outras malformações vertebrais. Neste caso, um cisto entérico dorsal congênito e uma síndrome de Klippel-Feil foram observados. Conclusão O cisto neurent é rico intramedular é uma lesão rara que deve ser conhecida pelo neurocirurgião e incluída no diagnóstico diferencial de lesões císticas intramurais dorsales, pois seu diagnóstico é muitas vezes difícil, especialmente em casos de cervicalgia crônica sem déficits neurológicos. Nível de evidência V; Opinião de Especialista.

RESUMEN Objetivo Los quistes neuroentéricos representan del 0,7 al 1,3% de todos los tumores de la médula espinal. Estas lesiones raras están compuestas de tejido endodérmico heterotópico. Métodos Una mujer de 26 años con cervicalgia severa de 13 meses de evolución acompañada de parestesia braquial. Clínicamente con paresia braquial bilateral leve (4/5), hiperreflexia generalizada y signo de Babinski izquierdo. En los antecedentes de importancia, le realizaron un cierre de una fístula cervical cuando tenía 1 año. Los potenciales evocados somatosensoriales superiores revelaron daño axonal medular con un predominio izquierdo. Se realizó una resonancia magnética cervical evidenciando una lesión ventral extramedular intradural quística homogénea hiperintensa en T2. La tomografía computarizada reveló un síndrome de Klippel-Feil. Resultados Se realizó una laminectomía posterior y resección quirúrgica sin complicaciones. El seguimiento postoperatorio mostró una recuperación completa de la fuerza de los brazos. El informe histopatológico confirmó el diagnóstico preoperatorio de quiste neuroentérico. La mayoría de los quistes neuroentéricos se localizan en la columna vertebral, principalmente en una posición ventral. El 95% de los quistes neuroentéricos se encuentran en el compartimento intradural/intramedular. Los quistes neuroentéricos sintomáticos aparecen típicamente en la segunda y tercera décadas de la vida y son 1.5 a 3 veces más comunes en los hombres. En el 50% de los casos, también se han notificado otras malformaciones vertebrales. En este caso, se observaron un quiste entérico dorsal congénito y un síndrome de Klippel-Feil. Conclusiones Los quistes neuroentéricos intraspinales son lesiones poco frecuentes que deben incluirse en el diagnóstico diferencial de una estructura quística intradural en posición dorsal. El diagnóstico puede pasarse por alto, especialmente en caso de dolor cervical crónico sin déficit neurológico. Nivel de evidencia V; Opinión de Especialista.

Study design: case series of 19 patients operated for severe scoliosis and diastematomyelia / Série de casos de 19 pacientes operados para escoliose severa e diastematomielia / Diseño del estudio: serie de casos de 19 pacientes operados por escoliosis grave y diastematomielia

ABSTRACT Objective: Diastematomyelia is a rare congenital spine and spinal cord malformation in which the spinal cord is divided into two parts by the osseous or fibrous septum. The incidence of diastematomyelia in patients with the most severe forms of congenital scoliosis is much higher than its general incidence in the population. When performing surgeries to correct scoliotic deformities, the question arises regarding the choice of a strategy for managing the septum. An unambiguous answer to this question does not exist, since the disease is very rare and heterogeneous. The aim was to summarize the data on different surgical strategies for detecting diastematomyelia. Methods: Literature review and retrospective analysis of our own clinical data. Results: We present our own experience of treating 19 patients with diastematomyelia and severe congenital scoliosis. Posture disorder was corrected in all cases; the septum was removed in none of the cases. Significant correction was achieved for all patients, and no neurological complications were observed in the short- and long-term follow-up. Conclusions: Surgical nonremoval of the spur enables compensation to be achieved, without neurological complications either in the immediate postoperative period or in the long-term (more than 2 years) follow-up. Level of Evidence IV; Case seriesh.

RESUMO Objetivo: A diastematomielia é uma má formação rara da espinha dorsal e medula congênita, quando a medula espinhal é dividida em duas partes pelo septo ósseo ou fibroso. A incidência de diastematomielia em pacientes com formas mais graves de escoliose congênita é muito maior do que a incidência geral em uma população. Ao realizar cirurgias para corrigir deformidades escolióticas, surge a questão sobre a escolha de uma estratégia para o manuseio do septo. Uma resposta inequívoca à essa questão não existe, pois a doença é muito rara e heterogênea. O objetivo foi resumir os dados sobre diferentes estratégias cirúrgicas para detecção da diastematomielia. Métodos: Revisão de literatura e análise retrospectiva de nossos próprios dados clínicos. Resultados: Apresentamos nossa própria experiência no tratamento de 19 pacientes com diastematomielia e escoliose congênita grave. Transtorno de postura foi corrigido em todos os casos; em nenhum dos casos o septo foi removido. Correção significativa foi alcançada para todos os pacientes e nenhuma complicação neurológica foi observada a curto e longo prazo de acompanhamento. Conclusões: A não remoção cirúrgica do esporão permite obter uma compensação e ter a falta de complicações neurológicas, tanto no período pós-operatório imediato quanto a longo prazo (mais de 2 anos) de acompanhamento. Nível de Evidência IV; Série de casosh.

RESUMEN Objetivo: La diastematomielia es una malformación congénita rara de la columna vertebral y la médula espinal en la cual la médula espinal se divide en dos partes por el tabique óseo o fibroso. La incidencia de diastematomielia en pacientes con las formas más graves de escoliosis congénita es mucho mayor que su incidencia general en una población. Cuando se realizan cirugías para corregir deformidades escolióticas, surge la pregunta con respecto a la elección de una estrategia para el manejo del tabique. No existe una respuesta inequívoca a esta pregunta, ya que la enfermedad es muy rara y heterogénea. El objetivo fue resumir los datos sobre diferentes estrategias quirúrgicas para la detección de diastematomielia. Métodos: Revisión de la literatura y análisis retrospectivo de nuestros propios datos clínicos. Resultados: Presentamos nuestra propia experiencia en el tratamiento de 19 pacientes con diastematomielia y escoliosis congénita grave. El trastorno postural fue corregido en todos los casos. El tabique no fue removido en ninguno de los casos. Se logró una corrección significativa en todos los pacientes y no se observaron complicaciones neurológicas en el seguimiento a corto y largo plazo. Conclusiones: La no remoción quirúrgica del espolón permite lograr una compensación sin complicaciones neurológicas, ya sea en el postoperatorio inmediato o en el seguimiento a largo plazo (más de 2 años). Nivel de Evidencia IV; Serie de casosh.

Serum copper, zinc, calcium and magnesium levels in mothers with offspring affected by neural tube defects: a case-control study

Background: Neural tube defects (NTDs) are important causes of infant mortality, which result from a complex interaction between genetics and environmental factors such as trace elements, which play and crucial role in the epigenetic regulation in the embryo fetal developmental program. Objectives: To measure the maternal serum levels of copper, zinc, calcium and magnesium in mothers with offspring affected by NTDs, and to examine a possible relationship between the serum concentrations of these micronutrients and occurrence of NTDs. Design: Case-controls study. Subjects and Methods: Maternal serum blood samples were obtained from 72 healthy pregnant women and 36 mothers who had NTDs affected offspring, including those alive, stillbirths and elective pregnancy' termination at Centro Provincial de Genetica in Villa Clara. Copper, zinc, calcium and magnesium levels in serum were measured by flame atomic absorption spectrometry and were compared between the two groups of mothers. Results: Serum zinc levels were determined to be significantly lower in the study group compared with the control group, while copper levels were significant elevated in the study group (all p values < .05). There was a negative correlation between serum zinc levels and serum copper levels. However, no association between calcium and magnesium serum levels and increased risk for the development of NTDs was observed. Conclusions: High maternal serum levels of copper and lower level of zinc during pregnancy were associated with NTDs in offspring. If folic acid supplementation is given, additional zinc supplementation should be considered for the further decrease in the recurrence risk of NTDs(AU)

Médula espinal amarrada. Reporte de caso / Case Report: Tethered cord syndrome

We present the case of a 31-year-old patient recent diagnosed with tethered cord syndrome, by MRI, before urgent caesarian section. The image shows the conus medullaris in a low location, reaching L5-S1, which could lead to potential neurological damage if it hadn't been diagnosed. Tethered cord syndrome is a condition in which the spinal cord is enlongated and in a low location, attached to an inelastic structure that holds the conus medullaris, blocking its normal ascension during growth. As a result, the conus medullaris is located below L2 vertebral body, increasing the risk of suffering direct neural damage at spinal anesthesia. Even if direct cord injury can be avoided, the injection of a local anesthetic agent may increase the subarachnoidal preassure leading undirectly to spinal cord damage. The tethered cord is considered to be a contraindication for spinal anesthesia. The incidence of tethered cord is unknown, it can be asymptomatic in adults or present non-specific symptoms, making it difficult to detect before anesthesia. The MRI is the best method for adult diagnosis, allowing us to evaluate the conus medullaris location, injuries and deformations

Presentamos el caso de una paciente de 31 años coordinada para cesárea de urgencia con diagnóstico reciente de médula amarrada (MA) por resonancia magnética. La imagen muestra el cono medular descendido hasta por lo menos L5-S1, exponiéndola a un potencial daño neurológico de no contar con el diagnóstico. Médula amarrada es una condición en la cual la médula espinal se encuentra estirada y descendida por una estructura inelástica que amarra el cono medular, evitando su normal ascenso durante el crecimiento. Como resultado, el cono medular se encuentra por debajo del cuerpo de L2, incrementando el riesgo de lesión directa con la aguja de raquianestesia. Incluso en aquellos pacientes en que la lesión directa no se produce, la inyección del anestésico local puede aumentar la presión subaracnoidea pudiendo provocar una lesión indirecta. La MA es considerada una contraindicación para la anestesia raquídea. La incidencia de MA se desconoce, en adultos puede ser asintomática o presentar síntomas inespecíficos dificultando su diagnóstico preoperatorio. La RNM es el método de elección para el diagnóstico en adultos, permitiéndonos valorar la localización del cono medular, lesiones y malformaciones En neonatos la ultrasonografía puede ser también de utilidad para el diagnóstico.

Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment

Background. Neural tube defects (NTDs) are an important category of birth defect, but surveillance remains inadequate in South Africa.Objectives. To assess the identification of NTDs at a tertiary hospital using a range of prenatal, perinatal and postnatal data sources, and to estimate the impact of prenatal diagnosis and birth prevalence for the referral area.Methods. Cases of anencephaly, encephalocele and spina bifida (SB) in a 6-year period were retrospectively identified from 5 data sources covering prenatal, perinatal and postnatal care. These were cross-correlated to avoid duplicate entries and to determine the contribution of different data sources. Details of prenatal diagnosis and termination of pregnancy (TOP) were obtained for 10 years, and birth prevalence over 2 years.Results. During a 6-year period 195 NTDs were identified at a Western Cape Province tertiary hospital. These included 59 (30%) cases of anencephaly, 28 (14%) of encephalocele and 108 (55%) of SB. The majority of NTDs (71%) were detected prenatally, although SB was less commonly diagnosed prenatally than cranial defects (56% v. 88%; p<0.001). Of SB cases ascertained pre- or postnatally, 57% of patients were born alive and 50% discharged alive, but 72% of survivors had not been diagnosed prenatally. Women receiving prenatal diagnosis of any type of NTD before 24 weeks' gestation were nearly always offered TOP, and the majority accepted termination after non-directive counselling. For SB, later prenatal diagnosis was associated with much lower termination rates because the option was less often offered (51% v. 100%; p<0.001), and perhaps less often accepted (57% v. 78%; p=0.06). The estimated NTD birth prevalence for the referral area was 0.76 - 0.80 per 1 000 live births, but perhaps up to 1.18 per 1 000 when considering under-referral of lethal cranial lesions from rural areas.Conclusions. A substantial number of NTDs can be ascertained from a tertiary hospital environment if multiple data sources are used, even though adding data from the Perinatal Problem Identification Program for outlying health facilities increases detection of lethal defects. Hospital-based surveillance can be considered, especially for SB. Prenatal diagnosis was fairly common and pregnancy termination was often offered and accepted if detected before 24 weeks' gestation. A regional prenatal ultrasound programme, predominantly based in primary care but with ready access to a tertiary centre, can be quite effective, although limited or delayed access to prenatal diagnosis must be addressed

Analysis of co-segregation of methylation pattern and gene ontology among pedigrees affected with neural tube defects / 中华医学遗传学杂志

OBJECTIVE@#To explore the characteristics of differentially methylated genes and gene ontology associated with neural tube defects (NTDs).@*METHODS@#Twelve subjects from 3 NTDs pedigrees were enrolled. Patients with NTDs have served as the case group, while their family members with normal phenotypes have served as the control group. Genomic DNA was extracted from peripheral venous blood samples of the families and used for DNA methylation analysis. Pairwise comparison was carried out primarily for patient-offspring pairs, and co-segregation of methylation pattern with NTDs was analyzed. Pathway related to differentially methylated genes was predicted with DAVID software.@*RESULTS@#Pairwise comparison indicated that VTRNA2-1 was the only gene in which all CpG sites were methylated. Co-segregation of VTRNA2-1 gene methylation with NTDs was found in all pedigrees. Pathways of hypermethylated genes included plasma membrane component, regulation of cellular protein metabolic process, and regulation of actin cytoskeleton organization, while the pathways of hypomethylated genes have included transcription regulator activity, cell adhesion, and neuronal differentiation.@*CONCLUSION@#Methylation of the VTRNA2-1 gene has co-segregated with NTDs in the studied pedigrees. The pathways of differentially methylated genes has involved with mechanism of neural tube development.