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.

Síndrome de Currarino incompleto. Presentación de un caso

El síndrome de Currarino es una enfermedad hereditaria y de baja incidencia, compuesta por una tríada: estenosis anal, malformación sacro coccígea y masa presacra. Puede cursar desapercibido hasta la adultez y generar subdiagnósticos. Se describe un paciente de 75 años, masculino, piel negra, de procedencia urbana y con antecedentes de hipertensión arterial, quien acudió al hospital por presentar hematuria, dolor en fosa lumbar izquierda y estreñimiento. Se realizaron estudios imagenológicos, como ultrasonido, tomografía de abdomen y resonancia magnética lumbosacra, los cuales condujeron al diagnóstico de tumor renal, síndrome de Currarino incompleto (dado por dos elementos de la triada: malformación sacro coccígea y masa presacra) asociado a otra enfermedad malformativa raquimedular, médula anclada. Son pocos los casos reportados en el mundo (casi 300), por lo que se considera una entidad rara, pero de fácil diagnóstico debido al advenimiento de las nuevas tecnologías en el campo de la imagenología.

Currarino syndrome is a hereditary disease with a low incidence, composed of a triad: anal stenosis, sacrococcygeal malformation and presacral mass. It can go unnoticed until adulthood and generate subdiagnoses. A 75-years-old male, black-skinned, urban origin patient with a history of arterial hypertension is described, who attended the hospital presenting hematuria, pain in the left lumbar fossa, and constipation. Radiological studies such as ultrasound, abdominal tomography and lumbosacral magnetic resonance were performed, which led to the diagnosis of a renal tumor, incomplete Currarino syndrome (given by two elements of the triad: sacrococcygeal malformation and presacral mass) associated with another spinal cord malformation disease, tethered cord. There are few cases reported in the world (almost 300), so it is considered a rare entity, but easy to diagnose due to new imaging technologies.

Conocimientos sobre el ácido fólico periconcepcional en mujeres puérperas del hospital de la mujer, La Paz-Bolivia / Awareness of periconceptional folic acid in postpartum women at the hospital de la mujer, La Paz-Bolivia

INTRODUCCIÓN Y/O ANTECEDENTES: Los defectos del tubo neural se encuentran entre las anomalías congénitas más comunes en todo el mundo, el ácido fólico (0.4-0.8 ug/día) reduce el riesgo de ocurrencia y recurrencia, por lo que se recomienda su uso concepcional y periconcepcional. El conocimiento de sus efectos protectores varía mucho en la población. OBJETIVOS: Describir el conocimiento de las puérperas sobre el uso correcto del ácido fólico y sus alcances como factor protector. MATERIAL Y MÉTODO: Se condujeron encuestas entre un grupo de mujeres puérperas del Hospital de la Mujer mediante cuestionarios estructurados para obtener información el conocimiento del uso del ácido fólico periconcepcional. RESULTADOS: Entrevistamos 87 puérperas. El conocimiento y el uso del ácido fólico entre las entrevistadas fue bajo, 51% y 48.3% respectivamente. La escolaridad en este grupo poblacional es un factor predictivo del conocimiento y uso correcto del ácido fólico. DISCUSIÓN, CONCLUSIONES Y RECOMENDACIONES: El conocimiento del ácido fólico es relativamente bajo entre las mujeres puérperas entrevistadas, su uso durante el embarazo es insuficiente y la suplementación con antes de la concepción es nula. Aún nos queda un largo camino por recorrer. Se recomienda promover el conocimiento y el uso del ácido fólico en etapa periconcepcional, así como mayor información sobre los alimentos fortificados.

INTRODUCTION AND BACKGROUND: Neural tube defects are among the most common congenital anomalies worldwide; folic acid reduces their risk of occurrence and is strongly recommended for conceptional and periconceptional use. Awareness of its protective effects varies widely among populations. OBJECTIVES: To measure the awareness of postpartum women about the correct use of folic acid and its protectants. MATERIALS AND METHODS: A survey was conducted in one group of postpartum women using structured questionnaires to obtain information on awareness and use of folic acid. RESULTS: We interviewed 87 postpartum women. Awareness and use of folic among the interviewees were low, 51% and 48.3% respectively. Schooling is a predictor of folic acid correct use and awareness. DISCUSSION, CONCLUSIONS, AND RECOMMENDATIONS: Awareness of folic acid is relatively low among pregnant Bolivian women, its use during pregnancy is insufficient and supplementation before conception is zero. We still have a long way to go. We recommend the promotion of awareness and the use of folic acid in pregnant women.

Defectos del tubo neural en recien nacidos en el hospital de la mujer / Neural tube defects in newborns in women's hospital

OBJETIVO: Conocer la prevalencia al nacimiento de los defectos del tubo neural en recién nacidos del Hospital de la Mujer, La Paz, Bolivia, período comprendido entre el año 2008 - 2017. DISEÑO METODOLÓGICO: Observacional, descriptivo, de corte transversal, retrospectivo. LUGAR: Hospital de la Mujer, a 3650 m.s.n.m. La Paz, Bolivia. MÉTODOS: Se examinaron los expedientes clínicos de todos los recién nacidos del Hospital de la Mujer, en período ya establecido. Para la detección de anomalías congénitas, se utilizaron libros de registro de nacimientos. Se ingresaron los datos a una base Excel, se procedió al análisis de los mismos a través del uso de la estadística descriptiva. RESULTADOS: Se recurrió a registros de 58120 expedientes de recién nacidos, se presentaron 1269 casos con Anomalías Congénitas (2.2%) con una prevalencia al Nacimiento (PN) de 21.83/10.000 RN (22.57/10.000 RN vivos). De dichos 1269 casos, 69 (5.44%) correspondieron a Defectos del Tubo Neural (DTN), con una PN de 11.87/10.000 RN (12.27/10.000 RN vivos), 59.42% DTN asociados al sexo masculino. El tipo de DTN más frecuente evidenciado fue Mielomeningocele (52.17%), y los DTN mortinatos representan el 17.39%. CONCLUSIONS: La llamativa diferencia encontrada, (en relación a la predilección por el sexo masculino), podría sugerir la presencia de una carga genética cuantitativamente mayor (propia de la población estudiada) en la etiología de los DTN en nuestro medio, ya que cuando las condiciones multifactoriales como los DTN afectan al sexo menos frecuentemente descrito, se puede asumir un peso mayor de los factores genéticos en relación a factores ambientales, siguiendo conceptos de heredabilidad y la teoría del umbral para este modo de herencia, sin embargo, somos conscientes que se requiere un tamaño de muestra mayor para arribar a conclusiones más certeras, dichos factores se adicionan al subregistro y posibles sesgos de registro evidenciados durante la realización del estudio.

OBJECTIVE: To know the prevalence at birth of neural tube defects in newborns at Hospital de La Mujer, La Paz, Bolivia, 3650 m.a.s.l, period between 2008 - 2017. PLACE: Women's Hospital, La Paz, Bolivia. METHODS: Observational, descriptive, cross-sectional, retrospective. The clinical records of all newborns were examined, in an already established period. For the detection of congenital anomalies, birth registration books were used. The data were entered into an Excel database, and analyzed through the use of descriptive statistics. RESULTS: 58120 newborn records were examined, 1269 cases with Congenital Anomalies (2.2%) with a prevalence at Birth (PB) of 21.83/10.000 RN (22.57/10.000 RN alive) were presented. Of these 1269 cases, 69 (5,44%) corresponded to Neural Tube Defects (NTD), with a PB of 11.87/10,000 RN (12.27/10,000 RN alive), 59.42% DTN associated with the male sex. The most frequent type of NTD evidenced was Myelomeningocele (52.17%), and stillborn DTNs represented 17.39%. CONCLUSIONS: The distinctive difference found (predilection of NTD for the male sex), could suggest the presence of a quantitatively greater genetic load (typical of the population studied) in the etiology of NTDs in our environment, since when multifactorial conditions affect the less frequently described sex, a greater weight of genetic factors can be assumed compared to environmental factors, following concepts of heritability and the threshold theory for this mode of inheritance; however, we are aware that a larger sample size is needed to arrive at more accurate conclusions, these factors are added to the underreporting and possible recording biases evidenced during the study.

Apéndice cutáneo sacro asociado a lipoma del filum terminal y médula anclada: un caso de diagnóstico prenatal

Los disrafismos espinales cerrados tienen una prevalencia aún desconocida e involucran una gran variedad de formas. El lipoma del filum terminal es considerado dentro de los lipomas espinales y suele asociarse a médula anclada. Los estigmas cutáneos lumbosacros no siempre son indicadores de disrafismo espinal cerrado. Reportamos un caso de diagnóstico prenatal de apéndice cutáneo sacro con sospecha de médula anclada, confirmado al nacer como lipoma del filum terminal con médula anclada.

Closed spinal dysraphisms have a still unknown prevalence and involve a wide variety of forms. Lipoma of the filum terminale is considered within spinal lipomas and is usually associated with tethered medulla. Lumbosacral cutaneous stigmata are not always indicative of closed spinal dysraphism. We report a case of prenatal diagnosis of sacral cutaneous appendage with suspected tethered cord, confirmed at birth as lipoma of the filum terminale with tethered cord.

Relación del ácido fólico y los defectos del tubo neural en ratas Wistar / Relationship of folic acid and neural tube defects in Wistar rats

RESUMEN Introducción: los defectos del cierre del tubo neural son anomalías del sistema nervioso central superadas únicamente por los defectos cardíacos. En Pinar del Río existe un aumento de interrupciones de embarazo por diagnóstico de este defecto, se desconoce si los niveles de ácido fólico en las gestantes influyen en su incidencia. Objetivo: corroborar la relación entre los defectos del cierre del tubo neural en las crías de ratas Wistar y las dosis de ácido fólico administrada en las ratas Wistar gestadas. Métodos: se realizó un estudio experimental en ratas Wistar, se formaron cinco grupos de dos ratas hembras, dos que recibieron dosis de ácido fólico de 100 y 200 microgramos (µg) antes y durante la gestación, dos que recibieron 100 y 200 µg durante la gestación y un grupo control que no recibió ninguna dosis. La muestra estuvo constituida por 212 ratas recién nacidas, sacrificadas bajo normas internacionales. Se extrajo médula y cerebro para observar las anomalías, se tomaron fotomicrografía de los cortes realizados. El nivel de significación para todas las comparaciones estadísticas fue α ≤ 0,05. Resultados: se observaron en total trece espinas bífidas, once en el grupo control (26,19 %) y dos (4,65 %) en el de 200 µg durante la gestación, al comparar el grupo control respecto a los grupos tratados, la variable masa corporal presentaron significación estadística. Se observó que la presencia de espina bífida fue significativa en la hembra con respecto al macho. Conclusiones: se demostró la necesidad esencial de la ingestión de ácido fólico antes y durante la gestación en ratas Wistar y la asociación de espina bífida y sexo, el sexo femenino fue el predominante.

ABSTRACT Introduction: neural tube closure defects are anomalies of the central nervous system surpassed only by cardiac defects. In Pinar del Rio province there is an increase of pregnancy interruptions due to diagnosis of this defect, and it is not known if folic acid levels in pregnant women influence its incidence. Objective: to corroborate the relationship between neural tube closure defects in Wistar rats' pups and the doses of folic acid administered in pregnant Wistar rats. Methods: an experimental study was carried out in Wistar rats, forming five groups of two female rats; two of them received doses of folic acid of 100 and 200 micrograms (µg) before and during gestation, two that received 100 and 200 µg during gestation and a control group that did not receive any dose. The sample consisted of 212 newborn rats, sacrificed under international standards. Marrow and brain were extracted to observe the anomalies, and photomicrographs were taken of the sections made. The significance level for all statistical comparisons was α ≤ 0,05. Results: a total of thirteen spina bifida were observed, eleven in the control group (26,19 %) and two (4,65 %) in the 200 µg group during gestation, when comparing the control group with the treated groups, the body mass variable presented statistical significance. It was observed that the presence of bifid spina was significant in the female with respect to the male. Conclusions: the essential need of folic acid ingestion before and during gestation in Wistar rats and the association of spina bifida and sex were confirmed, being predominant in the female sex.

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.

Craniocerebral and Spinal Dysraphism with Omphalocele – A Case Report of Primary Neurulation Defect

Background: Anencephaly and Spina bifida are the two most common types of neural tube defects (NTDs). Disrupted formation and closure of neural folds leads to Craniocerebral and spinal dysraphisms. Materials and methods: An 18 week old foetus was received in the department of Anatomy after elective medical termination of pregnancy due to the diagnosis of neural tube defect and associated congenital anomalies. Case Report: The foetus had anencephaly, thoracic-lumbar spina bifida, omphlocele and clubbed foot and hands. The foetus was dissected and studied, to look for abnormal internal structures. On meticulous dissection it was found that there were abnormalities in spine, gastrointestinal system and cranium. Conclusion: Anencephaly is a neural tube defect which has multiple neural and non-neural associated anomalies. A detailed description of the combination of associated anomalies goes a long way in updating knowledge on the same.

Disrafismo Espinal Oculto: Reporte de Caso

RESUMEN El disrafismo espinal oculto incluye alteraciones en la fusión del tubo neural, en el que la lesión está cubierta por la epidermis, su incidencia estimada es de 0,5 a 5 casos por cada 1000 nacidos vivos. Los estigmas cutáneos pueden ser el único signo de la patología, los cuales pueden no ser muy evidentes. Reporte de caso de mujer de 36 años que acudió a consulta por cuadro de dolor lumbar de inicio insidioso, de 3 semanas de duración, que con el paso de los días se fue intensificando, irradia a miembros inferiores, cede parcialmente con analgésicos comunes y se acompaña de parestesias en ambos miembros. Se solicitó TAC y RMN que reveló anomalía anatómica sacrococcígea caracterizada por abertura de canal raquídeo, ausencia de cóccix, situación baja del cono medular, siringomielia e hiperintensidad a nivel del filum terminal sugestivo de lipoma. Se confirmó el diagnóstico de espina bífida oculta a nivel sacro, con lipoma del filum terminal, médula anclada con situación baja del cono medular y siringomielia asociada. Actualmente es controversial el beneficio cirugía profiláctica en pacientes asintomáticos, siendo preferible una conducta conservadora con estrecho seguimiento urológico y neurológico, entre las medidas de prevención se recomienda evitar el ejercicio físico extenuante, disminuir carga de columna lumbar y reeducación postural.

ABSTRACT Occult spinal dysraphism includes alterations in the fusion of the neural tube, in which the lesion is covered by the epidermis, its estimated incidence is 0.5 to 5 cases per 1000 live births. Cutaneous stigmata may be the only sign of pathology, which may not be very obvious. Case report of a 36-year-old woman who came to the clinic for insidious onset lumbar pain, lasting 3 weeks, which intensified over the days, radiating to the lower limbs, partially subsided with common analgesics and accompanied by paresthesias in both limbs. CT and MRI are requested, revealing sacrococcygeal anatomical abnormality characterized by spinal canal opening, absence of coccyx, low location of the medullary cone, syringomyelia, and hyperintensity at the level of the terminal filum suggestive of lipoma. The diagnosis of occult spina bifida at the sacral level was confirmed, with a lipoma of the terminal filum, an anchored cord with a low location of the medullary cone and associated syringomyelia. Currently, the benefit of prophylactic surgery in asymptomatic patients is controversial, being preferable a conservative behavior with close urological and neurological monitoring, among the prevention measures it is recommended to avoid strenuous physical exercise, reduce lumbar spine load and postural reeducation.

Mucocele frontal: reporte de caso

RESUMEN Los mucoceles de los senos paranasales son tumoraciones expansivas que muestran diferentes presentaciones y localizaciones. Son tumores benignos de crecimiento lento, pero debido a la expansión que presentan causan la erosión y desplazamiento de las estructuras adyacentes, la edad de presentación varía de los 40 a los 60 años, sin predilección por el sexo. Aproximadamente en el 60-65 % de casos afectan a los senos paranasales frontales. La clínica de presentación es variable y depende mucho del tamaño del mucocele, así como de su localización y tiempo de evolución, pueden permanecer asintomáticos por mucho tiempo y debutar con alguna complicación; en los de localización frontal los hallazgos más frecuentes son cefalea frontal, asimetría facial, alteraciones a nivel ocular como diplopía, proptosis ocular, disminución de la movilidad ocular, reducción de la agudeza visual, incluso pudiendo llegar a pérdida de la visión total en el ojo afecto; la expansión intracraneal también puede llevar a fístulas de líquido cefalorraquídeo, meningitis y abscesos cerebrales. En el diagnóstico es fundamental solicitar el par radiológico de tomografía y resonancia magnética con contraste para determinar la extensión real del mucocele, la afectación de las estructuras adyacentes y optar por la mejor terapéutica posible. Esta patología es de manejo quirúrgico, el objetivo es abrir la cavidad del mucocele para lograr una adecuada ventilación y drenaje del seno afecto, actualmente la cirugía endoscópica nasal o combinada es la terapéutica más empleada.

ABSTRACT Mucoceles of the paranasal sinuses are expansive tumors that show different presentations and locations. They are benign tumors of slow growth, but due to their expansion they cause erosion and displacement of adjacent structures. The age of presentation varies from 40 to 60 years old, with no gender predilection. Approximately 60-65% of cases affect the frontal paranasal sinuses. The clinical presentation is variable and depends on the size of the mucocele, as well as its location and time of evolution, they can remain asymptomatic for a long time and debut with some complication; In frontal mucoceles the most frequent findings are frontal headache, facial asymmetry, ocular alterations such as diplopia, ocular proptosis, decreased ocular mobility, reduced visual acuity, and even total loss of vision in the affected eye; intracranial expansion can also lead to cerebrospinal fluid fistulas, meningitis and brain abscesses. In the diagnosis it is essential to request the radiological pair of tomography and magnetic resonance with contrast to determine the real extension of the mucocele, the affectation of the adjacent structures and to opt for the best possible therapy. This pathology is of surgical management, the objective is to open the mucocele cavity to achieve an adequate ventilation and drainage of the affected sinus, currently the nasal endoscopic or combined surgery is the most used therapy.

Reporte de caso: Quiste neuroentérico intradural/extramedular en paciente joven / Case report: Intradural/extramedullary neurenteric cyst in a young patient

Introducción: Los quistes neuroentéricos son lesiones congénitas, benignas, solitarias e infrecuentes del eje espinal, compuestas de tejido endodérmico heterotópico, productos del cierre incompleto del tubo neural. Se presentan, principalmente, en hombres durante la primera y segunda década de vida. Se localizan mayoritariamente en el espacio intradural/extramedular, ventralmente a la médula espinal, a nivel cervical bajo o torácico superior. La sintomatología neurológica depende de la localización del quiste. El diagnóstico presuntivo se realiza con una resonancia magnética, y el definitivo con un estudio histopatológico, llevado a cabo posterior a la exéresis completa o parcial de la muestra, con abordaje posterior, en la mayoría de los casos. Caso: Se describe el caso de una paciente de 35 años, quien tiene antecedente de haber presentado a los 14 años un quiste neuroentérico intradural/extramedular, a nivel cervial bajo. Había debutado con cervicalgia irradiada a miembros superiores e inferiores, radiculopatía, pérdida de la fuerza muscular, e hiperreflexia. Se realizó en ese momento una resonancia magnética, evidenciando una lesión ocupante de espacio en C5 y C6, la cual fue intervenida quirúrgicamente a través de una laminectomía en C5-C6 con abordaje posterior. Se realizó exéresis completa de la misma. El estudio anatomopatológico reportó quiste neuroentérico intradural/extramedular, sin atipias celulares. La evolución posoperatoria de la paciente resultó satisfactoria. Conclusión: Se describe este caso clínico, resaltando su importancia, al tratarse de lesiones sumamente infrecuentes en la literatura médica, con sintomatología poco específica, pudiendo confundirse con otras patologías, y recidivar, incluso después de haberse extraído completamente

Introduction: Neuroenteric cysts are congenital, benign, solitary, and infrequent lesions of the spinal axis, composed of heterotopic endodermic tissue, resulting from an incomplete closure of the neural tube. They mainly occur in men, during the first or second decade of life. Most of these cysts are located in the intradural/extramedullary compartment, ventrally to the spinal cord, especially at the lower cervical or upper thoracic spine. The neurological symptomatology varies depending on the location of the cyst. The presumptive diagnosis is made with magnetic resonance imaging, and the definitive diagnosis is made with a histopathological assessment, which is done after a complete or partial resection of the mass, generally with a posterior approach. Case presentation: We describe the case of a 35-year-old female patient, with the medical history of presenting an intradural/extramedullary neuroenteric cyst, located at the lower cervical level, at the age of 14. She presented cervical pain irradiated to upper and lower limbs, radicular pain, loss of muscular strength, and hyperreflexia. A magnetic resonance imaging was indicated, showing a space-occupying lesion at the C5 and C6 levels, which was surgically intervened through a posterior cervical (C5-C6) laminectomy. A complete resection of this mass was performed. The histopathological assessment reported an intradural/extramedullary neuroenteric cyst, with no cellular atypia. The patient's postoperative progress and development were satisfactory. Conclusion: The objective is to describe this case, highlighting its importance, since these lesions are extremely infrequent in the medical literature, with a non-specific symptomatology, which is why they can be confused with other pathologies, and recur, even after their complete resection.

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.

Oeis complex (omphalocele-exstrophy-imperforate anus-spinal defects): a confusing syndrome. case report

ABSTRACT Introduction: The OEIS complex is a group of polymorphic defects with low incidence and prevalence worldwide. It is associated with epigenetic and genetic causes that occur in early blastogenesis, resulting in 4 classic malformations consisting of omphalocele, bladder/cloaca exstrophy, imperforate anus, and spinal cord injuries. Spina bifida, symphysis pubis diastasis and limb abnormalities may also be observed. Case presentation: 7-month-old female patient (at the time of writing this report). The mother was from a rural region of Colombia, and this was her third pregnancy, which was at high risk of obstetric complications. The infant was prenatally diagnosed with a caudal folding defect in the abdominal wall and a lipomeningocele. During birth, bladder exstrophy, imperforate anus and spinal dysraphism were observed, leading to a diagnosis of OEIS complex. Relevant interdisciplinary management was initiated. Conclusions: The OEIS complex is a fetal polymorphic malformation with characteristic signs and defects. Knowledge on its etiopathogenesis, pre- and postnatal diagnosis, genetic counseling and therapeutic approaches are essential to favor the early treatment of different comorbidities, alleviate acute symptoms, reduce multiple comorbidities and improve the patient's quality of life.

RESUMEN Introducción. El complejo OEIS es un conjunto de defectos polimalformativos con baja incidencia y prevalencia mundial que suele estar asociado a causas epigenéticas y genéticas que ocasionan alteración al final de la blastogénesis, dando como resultado la asociación de cuatro malformaciones clásicas: onfalocele, extrofia vesical, ano imperforado y lesiones de la médula espinal. En ocasiones también se presenta espina bffida, diástasis de la sínfisis púbica y anormalidades en las extremidades. Presentación del caso. Paciente femenina de 7 meses de edad (al momento de la elaboración del presente reporte), procedente de un área rural colombiana, producto de una tercera gestación con alto riesgo obstétrico y diagnosticada prenatalmente con un defecto en el plegamiento caudal de la pared abdominal y un lipomeningocele. Durante el nacimiento se evidenció extrofia vesical, ano imperforado y disrafismo espinal, lo que permitió plantear el diagnóstico de complejo OEIS e iniciar manejo interdisciplinario pertinente. Conclusiones. El complejo OEIS es una poli-malformación fetal con signos y anomalías características, en donde los conocimientos sobre la etiopatogenia, el diagnóstico pre y postnatal, el asesoramiento genético y las propuestas terapéuticas son primordiales para favorecer el manejo precoz de las diferentes comorbilidades, aliviar la sintomatologia aguda, reducir múltiples comorbilidades y mejorar la calidad de vida del paciente.

Diagnóstico de diastematomielia asociada a médula anclada en un paciente adulto. Reporte de un caso / Diagnosis of diastematomyelia associated with tethered cord in an adult patient. A case report

RESUMEN La diastematomielia es una división del cordón medular, en una longitud variable, por un tabique extradural óseo, fibroso o condroide. Esta forma de disrafia está asociada con otras malformaciones raquimedulares. Se reporta el caso de una paciente de 29 años con historia de dos años de evolución de lumbalgia medial progresiva con irradiación a ambas extremidades inferiores, atendida en el Servicio de Neurología del Hospital General Universitario Dr. Gustavo Aldereguía Lima, de Cienfuegos. Al examen físico, presentaba paraparesia flácida, amiotrofia del miembro inferior izquierdo e hipoestesia táctil y dolorosa en miembros inferiores. La resonancia magnética nuclear y la tomografía axial computadorizada mostraron diastometomielia asociada a médula anclada. Por ser una alteración de disrafia infrecuente que puede presentarse en cualquier grupo etario y puede asociarse a médula anclada con otras disrafias espinales, se decidió la presentación del caso. De lo que se puede deducir que ante un paciente joven con dolor lumbar y déficit motriz progresivo podemos estar ante un caso de diastematomielia, médula anclada o ambas.

ABSTRACT Diastematomyelia is a division of the medullar cord, in a variable length, by a bony, fibrous or extradural bone septum. This form of dysraphia is associated with other spinal malformations. The case of a 29-years-old patient with a two-year history of progressive medial low back pain with irradiation to both lower extremities, treated at the Neurology Service of the Dr. Gustavo Aldereguía Lima University General Hospital, in Cienfuegos, is reported. On physical examination, she presented flaccid paraparesis, amyotrophy of the left lower limb, and painful tactile hypoesthesia in the lower limbs. Nuclear magnetic resonance and computerized axial tomography showed diastematomyelia associated with tethered cord. As it is an uncommon Dysraphia disorder that can occur in any age group and can be associated with tethered cord with other spinal dysraphias, the presentation of the case was decided. It is assumed that in a young patient with low back pain and progressive motor deficit we may be dealing with a case of diastematomyelia, tethered cord or both.

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.

Evaluation of Acromio-Axillary-Suprasternal Notch Index in Predicting Difficulty in Visualization of Larynxs in Adult Patients

In medical specialty, expertise in airway management is essential. Maintaining the airway and providing oxygenation is the responsibility of the anaesthesiologist. He is also responsible for reducing the morbidity, and mortality related to difficult intubation. To reduce the risk associated with difficult visualization of larynx, preoperative assessment of airway is required. To protect patient’s airway, endotracheal intubation is the gold standard. Direct laryngoscopy easily enables the securing the airway. This study was for predictive validity of the current system called acromio-axillo-suprasternal notch index in the assessment of difficult airway management. METHODSA total of 60 adult patients, of either gender, aged 18 - 65 years, of ASA class 1 and 2, undergoing elective surgery under general anaesthesia requiring tracheal intubation participated in this prospective, comparative, observational study. AASI was used for preoperative assessment of airway. Sensitivity, and specificity were calculated for AASI. In this study, data analysis was done using chi- square. p < 0.05 was considered statistically significant. RESULTSDifficult Visualization of Larynx was observed in 3.6 % [95 % confidence interval (1.9 – 5.4 %)] patients. Our study found that sensitivity and specificity were 75 % and 95.7 % respectively. CONCLUSIONSAcromio-Axillary-Suprasternal Notch Index (≥ 0.5) is a clear indicator of difficult larynx visualization with direct laryngoscopy.

A Study Of Incidence Of Neural Tube Defects And Their Pattern In A Tertiary Care Hospital Of Gurugram

Objective: The study was undertaken to determine the proportion and pattern of Neural Tube Defects (NTD)reported at tertiary care teaching hospital in Gurugram. The incidence of NTDs were determined and comparedwith other studies done in India and other countries.Material and methods: The study was carried out in SGT Medical College Hospital and Research Institute,Gurugram. The total number of deliveries was recorded from 2017- 2019.The aborted fetuses with NTDs wereobserved in detail externally for the sex, type of NTD and other associated anomalies after obtaining ethicalclearance and written informed consent of the parents.Results: The number of deliveries conducted between 2017-2019 at SGT Medical College Hospital and ResearchInstitute, Gurugram was 2500. There were 8 babies born with NTDs (5 female and 4 male). Overall incidence ofNTDs in the present study was 3.2/1000 births with female preponderance. The incidence of fetuses withanencephaly, myelocele, meningomyelocele, craniorachischisis and encephalocele were 0.8, 1.2, 0.4, 0.4, and0.4 per 1000 births respectively.Conclusion: Birth defects like Neural Tube Defects are easily detected by routine screening tests like USG in firstand second trimester of pregnancy. Public health measures like preconception folic acid supplements andincreasing awareness about maternal care during pregnancy needs to be highlighted to decrease the incidenceof congenital anomalies and their comorbidities.

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.

Prevalence and factors associated with folate deficiency among Filipino women of child-bearing age

@#Introduction: Folate deficiency is associated with many complications of pregnancy. A cross-sectional survey was conducted to determine the prevalence and factors associated with deficiency in red blood cell (RBC) folate among Filipino women of child-bearing age in the Province of Batangas, Philippines. Methods: A total of 184 Filipino women aged 15 to 49 years were interviewed on their socio-economic and demographic profiles. Mean energy and folate intakes were obtained using food recalls over a three-month period. RBC folate was used to measure long-term folate status and analysed through immuno-assay method. Results: About two in ten women were folate deficient based on the normal cut-off points (<400 ng/mL) preventive of neural tube defect-affected pregnancies. Respondents have very low intake of folate at 81 and 239 micrograms dietary folate equivalent (µg DFE) from dietary sources and with folic acid supplementation, respectively. Vegetable gardening and livestock raising (p<0.10) and use of folic-acid containing supplements showed significant correlations with folate status (p<0.05). Further, regression analysis showed that among the significant factors, the non-usage of folic acid-containing supplements showed increased likelihood of RBC folate deficiency by six times compared to users (OR=6.391, p<0.10). Conclusion: The findings of the study suggest a high prevalence of folate deficiency among Filipino women. Folate is an essential nutrient for healthy pregnancy. It is important that women, capable of bearing a child must assure adequate folate intake from foods and folic-acid containing supplements. The study recommends a more aggressive campaign on the importance of folate among women of child-bearing age.