Diferencias en la duración del reflejo rectoanal inhibitorio en pacientes con constipación funcional refractaria y mielomeningocele / Differences in rectoanal inhibitory reflex duration between patients with refractory functional constipation and myelomeningocele

Introducción. Habitualmente, durante la manometría anorrectal, en lo correspondiente al reflejo rectoanal inhibitorio (RRAI) solo se pesquisa su presencia o ausencia. Estudios han reportado que su análisis detallado puede brindar datos de interés. Nuestra hipótesis es que la medición del RRAI puede dar información para reconocer causas orgánicas (médula anclada, lipoma, etc.) en pacientes en los que previamente se consideró como de causa funcional. Objetivos. Comparar la duración del reflejo rectoanal inhibitorio en la manometría anorrectal de pacientes con constipación funcional refractaria (CFR) y mielomeningocele (MMC). Población y métodos. Estudio observacional, transversal, analítico (2004-2019). Pacientes constipados crónicos con incontinencia fecal funcional y orgánica (mielomeningocele). Se les realizó manometría anorrectal con sistema de perfusión de agua y se midió la duración del RRAI con diferentes volúmenes (20, 40 y 60 cc). Grupo 1 (G1): 81 CFR. Grupo 2 (G2): 54 MMC. Se excluyeron pacientes con retraso madurativo, esfínter anal complaciente, agenesia sacra y aquellos no colaboradores. Resultados. Se incluyeron 135 sujetos (62 varones). La mediana de edad fue G1:9,57 años; G2: 9,63 años. Duración promedio G1 vs. G2 con 20 cc: 8,89 vs. 15,21 segundos; con 40 cc: 11.41 vs. 21,12 segundos; con 60 cc: 14,15 vs. 26,02 segundos. La diferencia de duración del RRAI entre ambos grupos con diferentes volúmenes fue estadísticamente significativa (p = 0,0001). Conclusión. La duración del RRAI aumenta a mayor volumen de insuflación del balón en ambas poblaciones. Pacientes con MMC tuvieron mayor duración del RRAI que aquellos con CFR. En los pacientes con RRAI prolongado, debe descartarse lesión medular.

Introduction. Usually, during anorectal manometry, only the presence or absence of rectoanal inhibitory reflex (RAIR) is investigated. Studies have reported that a detailed analysis may provide data of interest. Our hypothesis is that RAIR measurement may provide information to detect organic causes (tethered cord, lipoma, etc.) in patients in whom a functional cause had been previously considered. Objectives. To compare RAIR duration in anorectal manometry between patients with refractory functional constipation (RFC) and myelomeningocele (MMC). Population and methods. Observational, analytical, cross-sectional study (2004­2019). Patients with chronic constipation and functional and organic fecal incontinence (myelomeningocele). The anorectal manometry was performed with a water-perfused system, and the duration of RAIR was measured with different volumes (20, 40, and 60 cc). Group 1 (G1): 81 RFC. Group 2 (G2): 54 MMC. Patients with developmental delay, compliant anal sphincter, sacral agenesis and non-cooperative patients were excluded. Results. A total of 135 individuals were included (62 were male). Their median age was 9.57 years in G1 and 9.63 years in G2. Average duration in G1 versus G2 with 20 cc: 8.89 versus 15.21 seconds; 40 cc: 11.41 versus 21.12 seconds; 60 cc: 14.15 versus 26.02 seconds. The difference in RAIR duration with the varying volumes was statistically significant (p = 0.0001). Conclusion. RAIR duration was longer with increasing balloon inflation volumes in both populations. RAIR duration was longer in patients with MMC than in those with RFC. Spinal injury should be ruled out in patients with prolonged RAIR.

Brazilian Version of the Myelomeningocele Functional Classification (MMFC): Translation, Cultural Adaptation, and Psychometric Properties / Versão brasileira da classificação funcional de mielomeningocele (MMFC): Tradução, adaptação cultural e propriedades psicométricas

Abstract Objective: Perform the translation and cultural adaptation of the Myelomeningocele Functional Classification (MMFC) into Portuguese (Brazil) and study its psychometric properties. Method: Validation study with translation, cultural adaptation and evaluation of psychometric properties: reliability, test-retest and convergent validity. Sample of 20 individuals with myelomeningocele with a median age of 10 (5 - 24.25) years, with a minimum of 3 and a maximum of 66 years. Reliability was determined by intra and interobserver agreement, using the results of the Intra-class Correlation Coefficient (ICC) and Confidence Interval 95% (IC- 95%). Convergent validity was performed using the Sharrard, Hoffer, Pediatric Evaluation of Disability Inventory (PEDI) and Functional Mobility Scale (FMS) classifications, and The Spearman Correlation Test was calculated. Results: Intra (ICC range: 0.900-1.0) and interobserver (ICC: 0.936; IC- 95%: 0.839-0.975) reliability showed excellent levels of ICC. Convergent validity showed very strong correlations with FMS-5 (r = 0.94, p = 0.00) and FMS-50 (r = 0.94, p = 0.00); strong correlations with FMS-500 (r = 0.87, p = 0.00), Sharrard (r = 0.76, p = 0.00), Hoffer (r = 0.83, p = 0.00), PEDI Functional Skills: Mobility (r = 0.84, p = 0.00) and PEDI Caregiver Assistance: Mobility (r = 0.77, p = 0.00); and weak correlations with self care domain of PEDI (r = 0.46, p = 0,04). The test-retest showed ICC = 1.00. Conclusions: This study presents the psychometric properties of the MMFC, in addition to its translation and cultural adaptation into Portuguese, the native language of the author of the classification. MMFC demonstrates correlation with previously used myelomeningocele classifications. MMFC demonstrated good results in the psychometric properties evaluated. Thus, the MMFC seems adequate and applicable to individuals with myelomeningocele and valid for the Brazilian population.

Resumo Objetivo: Realizar a tradução e adaptação cultural da Classificação Funcional da Mielomeningocele (MMFC) para o português (Brasil) e estudar suas propriedades psicométricas. Método: Estudo de validação com tradução, adaptação cultural e avaliação das propriedades psicométricas: confiabilidade, teste-reteste e validade convergente. Amostra de 20 indivíduos com mielomeningocele e idade mediana de 10 (5 a 24,25) anos, com mínimo de 3 e máximo de 66 anos. A confiabilidade foi determinada pela concordância intra e interobservador, utilizando os resultados do coeficiente de correlação intraclasse (ICC) e o intervalo de confiança de 95% (IC- 95%). A validade convergente foi realizada por meio das classificações de Sharrard, Hoffer, Inventário de Avaliação Pediátrica de Incapacidade (Pediatric Evaluation of Disability Inventory [PEDI]) e Escala de Mobilidade Funcional (Functional Mobility Scale [FMS]). Além disso, o teste de correlação de Spearman foi realizado. Resultados: A confiabilidade intraobservador (ICC: 0,900-1,0) e interobservador (ICC: 0,936; IC - 95%: 0,839-0,975) apresentou excelentes níveis de ICC. A validade convergente mostrou correlações muito fortes com FMS-5 (r = 0,94, p = 0,00) e FMS-50 (r = 0,94, p = 0,00); correlações fortes com FMS-500 (r = 0,87, p = 0,00), Sharrard (r = 0,76, p = 0,00), Hoffer (r = 0,83, p = 0,00) e Habilidades Funcionais: Mobilidade (PEDI) (r = 0,84, p= 0,00) e Assistência do Cuidador: Mobilidade (PEDI) (r = 0,77, p = 0,00); e fracas com o domínio autocuidado de PEDI (r = 0,46, p = 0,04). O teste-reteste revelou que ICC =1,00. Conclusões: Este estudo apresenta as propriedades psicométricas da MMFC, além de sua tradução e adaptação cultural para o português, língua nativa do autor da classificação. A MMFC demonstra correlação com classificações de mielomeningocele anteriormente utilizada. A MMFC teve bons resultados nas propriedades psicométricas avaliadas. Assim, a MMFC parece adequada e aplicável a indivíduos com mielomeningocele e é válida para a população brasileira.

Procedimiento clínico-quirúrgico en una paciente embarazada con una derivación urológica compleja. Reporte de un caso / Clinical-surgical approach in a pregnant patient with complex urological diversion. A case report

Resumen ANTECEDENTES: El mielomeningocele es el defecto del tubo neural más frecuente; se registra un caso por cada 1000 nacidos vivos. Es más frecuente en mujeres, que resultan con secuelas discapacitantes, entre ellas las urológicas. Pueden subsanarse con diferentes técnicas quirúrgicas y derivaciones urológicas complejas que las predispone a infecciones de vías urinarias de repetición y, cuando hay embarazo, complicaciones materno-fetales y dificultad para el acceso quirúrgico, en caso de cesárea. CASO CLÍNICO: Paciente con 14 semanas de embarazo, 27 años de edad, con diagnóstico de mielomeningocele y vesicoplastia, con múltiples infecciones urinarias y ruptura de membranas pretérmino. Finalización del embarazo por cesárea a las 33 semanas, por indicación de las condiciones fetales. La técnica de la cesárea se modificó para no dañar la cistoplastia y evitar complicaciones con las adherencias en la pelvis. CONCLUSIONES: El mejor pronóstico materno-fetal en pacientes con derivación urológica compleja se consigue con la búsqueda intencionada de infecciones urinarias y tratamiento oportuno y adecuado, además de una planificación multidisciplinaria al momento de la finalización del embarazo.

Abstract BACKGROUND: Myelomeningocele is the most common neural tube defect; one case per 1000 live births is reported. It is more frequent in females, resulting in disabling sequelae, including urological sequelae. They can be corrected with different surgical techniques and complex urological derivations that predispose them to repeated urinary tract infections and, when there is pregnancy, maternal-fetal complications and difficulty for surgical access, in case of cesarean section. CLINICAL CASE: Patient 14 weeks pregnant, 27 years old, diagnosed with myelomeningocele and vesicoplasty, with multiple urinary tract infections and preterm rupture of membranes. Termination of pregnancy by cesarean section at 33 weeks, due to fetal conditions. The cesarean section technique was modified so as not to damage the cystoplasty and to avoid complications with adhesions in the pelvis. CONCLUSIONS: The best maternal-fetal prognosis in patients with complex urologic diversion is achieved with the intentional search for urinary tract infections and timely and adequate treatment, in addition to multidisciplinary planning at the time of termination of pregnancy.

The late-onset spine deformity in patients underwent myelomeningocele repair: radiologic characteristic and surgical strategy / 中华骨科杂志

Objective:To investigate the imaging features and surgical strategies of late-onset spinal deformity after myelomeningocele (MMC) repair.Methods:A total of 23 patients with late-onset spinal deformity after MMC repair from January 2006 to December 2019 were retrospectively analyzed, including 16 males and 7 females, aged 15.4±5.9 years (range, 6-28 years). All patients underwent MMC resection and repair in infancy (0-4 years). The complications of MMC, imaging characteristics of spinal deformity (Cobb angle of scoliosis, coronal balance, regional kyphosis), surgical methods, clinical outcomes and incidence of complications were analyzed. The Scoliosis Research Society-22 (SRS-22) score and Oswestry disability index (ODI) were used to evaluate the quality of life.Results:All patients were followed up for 2.4±0.8 years (range, 1-4 years). Among 23 patients, MMC occurred in the upper thoracic segment in 3 cases, thoracic segment in 1 case, thoracolumbar segment in 13 cases, and lumbosacral segment in 6 cases. 16 patients had scoliosis or kyphosis with the apex of the spine in the same segment as the MMC lesion. Among 13 patients with MMC located in thoracolumbar segment, 12 patients had scoliosis and 9 patients had kyphosis. Among 6 patients with MMC located in lumbosacral segment, 3 patients had pelvic tilt. Vertebral deformities included widening of pedicle space in 21 cases, enlargement of spinal canal in 19 cases, absence of spinous process in 17 cases, malsegmentation in 17 cases, and hemivertebra deformity in 9 cases. Intramedullary lesions included split cord in 6 cases and tethered cord in 9 cases. The overall implant density was 57.2%±17% (range, 16.6%-100%). At the last follow-up, the Cobb angle of scoliosis was 40.9°±19.1°, which was significantly smaller than 71.5°±28.2° before operation ( P<0.001). The local kyphosis angle was 26.7°±12.9°, which was significantly lower than that before operation (40.4°±21.5°), the difference was statistically significant ( P<0.001).The coronal balance was 16.1±13.6 mm, which was smaller than that before operation 28.5± 23.7 mm, the difference was statistically significant ( P<0.001). The total score of SRS-22 was 18.7±0.7, which was higher than that before operation 17.7±0.9, and the difference was statistically significant ( t=-9.74, P<0.001); ODI was 25.5%±6.2% after operation, which was significantly lower than that before operation (44.8%±10.1%), the difference was statistically significant ( t=13.66, P<0.001). Dural rupture occurred in 4 patients, including postoperative cerebrospinal fluid leakage in 2 cases; postoperative pleural effusion in 1 patient; and screw malposition in 2 patients. Three patients had broken rods and one had deep infection at final follow-up. Conclusion:About 70% of MMC patients who underwent resection and repair in early childhood developed late-onset spinal deformity in adulthood with the lesion at the parietal vertebrae. Posterior correction can obtain satisfactory clinical results. If the posterior element of the apical vertebral body is hypoplastic, the implant density can be increased by anterior vertebral screw, lamina hook fixation, and S 2 sacroiliac screw.

Presentación de un meningocele lumbosacro en un adulto / Case Presentation of a ruptured lumbosacral meningocele in an adult patient

La espina bífida, o mielodisplasia, es una anomalía de origen multifactorial congénita que se presenta con mayor frecuencia durante el desarrollo embrionario. Se produce por el cierre parcial de los pliegues neurales conjuntamente con una fusión defectuosa de los arcos vertebrales. Su clínica es variable e incluye una serie de manifestaciones como expresión del compromiso neurológico. El diagnóstico se basa en la presencia de las manifestaciones clínicas ayudado de estudios imagenológicos. La corrección quirúrgica del defecto es la conducta terapéutica que se preconiza como adecuada. Se presenta el caso de una paciente de 34 años de edad con mielomeningocele no corregido en edad infantil que se presenta con complicaciones infecciosas y secuelas neurológicas. Se administró esquema de antibioticoterapia con varios antibióticos de amplio espectro, y se decidió intervenir quirúrgicamente, con lo que se logró el cierre del orificio comunicante de la región espinal con el exterior. Además, se reconstruyó la zona aledaña al mielomeningocele para evitar posible sepsis del Sistema Nervioso Central. La paciente tuvo una evolución favorable y fue dada de alta hospitalaria a los 7 días posteriores a la intervención quirúrgica sin secuelas neurológicas(AU)

Spine bifida, or myelodysplasia, is a multifactorial congenital anomaly that occurs most frequently during embryonic development. It is produced by the partial closure of the neural folds together with a defective fusion of the vertebral arches. Its clinic is variable and includes a series of manifestations as an expression of neurological compromise. The diagnosis is based on the presence of clinical manifestations, aided by imaging studies. Surgical correction of the defect is the therapeutic conduct that is recommended as adequate. This report presents the case of a 34-year-old patient with uncorrected myelomeningocele in childhood who presented with infectious and neurological sequelae complications(AU)

Historical Clinical Outcomes of Children with Myelomeningocele Meeting the Criteria for Fetal Surgery: A Retrospective Cohort Survey of Brazilian Patients / Resultados clínicos históricos de crianças com mielomeningocele com critérios para cirurgia fetal: Um estudo de coorte retrospectivo de pacientes brasileiros

Abstract Objective To analyze the historical clinical outcomes of children with myelomeningocele (MMC) meeting the criteria for fetal surgery, but who underwent postnatal primary repair. Methods Data from children undergoing postnatal MMC repair between January 1995 and January 2015 were collected from the Neurosurgery Outpatient Clinic's medical records. Children were included if they had ≥1 year of postoperative follow-up andmet the criteria for fetal surgery. The children's data were then stratified according to whether they received a shunt or not. The primary outcome was mortality, and secondary outcomes were educational delays, hospitalization, recurrent urinary tract infections (UTIs), and renal failure. Results Over the 20-year period, 231 children with MMC were followed up. Based on clinical data recorded at the time of birth, 165 (71.4%) qualify of fetal surgery. Of the 165 patients, 136 (82.4%) underwent shunt placement. The mortality rate was 5.1% in the group with shunt and 0% in the group without, relative risk (RR) 3.28 (95% confidence interval, 95% CI, 0.19-55.9). The statistically significant RRs for adverse outcomes in the shunted group were 1.86 (95% CI, 1.01-3.44) for UTI, 30 (95% CI, 1.01-537) for renal failure, and 1.77 (95% CI, 1.09-2.87) for hospitalizations. Conclusion Children with MMC qualifying for fetal surgery who underwent shunt placement were more likely to have recurrent UTIs, develop renal failure, and be hospitalized. Since approximately half of the shunt procedures could be avoided by fetal surgery, there is a clinical benefit and a possible financial benefit to the implementation of this technology in our setting.

Resumo Objetivo Analisar os resultados clínicos históricos de crianças commielomeningocele (MMC) com critérios para cirurgia fetal,mas que foram submetidas a cirurgia pós-natal. Métodos Dados de crianças submetidas à correção deMMCpós-natal entre janeiro de 1995 e janeiro de 2015 foram coletados nos prontuários do Ambulatório de Neurocirurgia. Foram incluídas crianças se tivessem ≥ 1 ano de acompanhamento pósoperatório e atendessem os critérios para cirurgia fetal. As informações dessas crianças foram então estratificadas de acordo com se receberam ou não derivação do líquido cefalorraquidiano. O desfecho primário foi a mortalidade e os desfechos secundários foram atrasos educacionais, hospitalização, infecções recorrentes do trato urinário einsuficiência renal. Resultados Durante o período de 20 anos, 231 crianças com MMC foram acompanhadas. Com base nos dados clínicos registrados no momento do nascimento, 165 (71,4%) atendiam critérios para a cirurgia fetal. Dos 165 pacientes, 136 (82,4%) foram submetidos à colocação de derivação do líquido cefalorraquidiano. A taxa de mortalidade foi de 5,1% no grupo com derivação do líquido cefalorraquidiano e 0% no grupo sem risco relativo (RR) 3,28 (intervalo de confiança 95%, IC 95%, 0,19-55,9). Os RRs estatisticamente significativos para resultados adversos no grupo com derivação do líquido cefalorraquidiano foram 1,86 (IC 95%, 1,01-3,44) para infecção do trato urinário, 30 (IC 95%, 1,01-537) para insuficiência renal e 1,77 (IC 95%, 1,09-2,87) para hospitalizações. Conclusão Crianças com MMC com critérios para cirurgia fetal submetidas à colocação de derivação do líquido cefalorraquidiano eram mais propensas a ter infecções recorrentes do trato urinário, desenvolver insuficiência renal e serem hospitalizadas. Como aproximadamente metade dos procedimentos de derivação poderiam ser evitados por cirurgia fetal, há um benefício clínico e um possível benefício financeiro com a implementação dessa tecnologia em nosso meio.

Cirugía de escoliosis en pacientes con mielomeningocele / Scoliosis surgery in patients with myelomeningocele

Resumen: Objetivo: Evaluar en forma retrospectiva los resultados obtenidos y las complicaciones presentadas en el tratamiento quirúrgico de pacientes con escoliosis neuropática secundaria a mielomeningocele. Material y métodos: Entre Julio de 1991 y Julio de 2018 fueron tratados quirúrgicamente 40 pacientes consecutivos con diagnóstico de escoliosis neuropática secundaria a mielomeningocele, a quienes se les realizó artrodesis vertebral. Resultados: El promedio de observación fue de 10 años (rango de 2-27 años). Fueron 19 pacientes masculinos y 21 femeninos, con un promedio de edad de 13 años. La magnitud promedio de la curva escoliótica fue de 90o en el prequirúrgico y de 43o en el último control. Corrección promedio de 52%. La magnitud promedio de la oblicuidad pélvica fue de 19o en el prequirúrgico y de 9o en el último control. Corrección promedio de 53%. La magnitud preoperativa del balance coronal fue de 28.4 mm, al último control fue de 17 mm. Corrección promedio de 40%. La magnitud promedio de la cifosis fue de 50o en el prequirúrgico y de 41o en el último control. Corrección promedio de 18%. El balance sagital prequirúrgico fue de 63.3 mm, al último control fue de 38.3 mm. Corrección promedio de 40%. Hubo 13 complicaciones (32.5%), la infección fue la complicación observada con mayor frecuencia. Conclusión: Los principales objetivos de la estabilización quirúrgica en pacientes con mielomeningocele son obtener una columna estable, balanceada y sin dolor. Sin embargo, el tratamiento quirúrgico de estos pacientes continúa siendo difícil y está asociado a un alto porcentaje de complicaciones.

Abstract: Objective: The aim of the study was to evaluate the outcomes and complications in patients with myelomeningocele who have undergone spinal fusion for neuromuscular scoliosis. Material and methods: Retrospective study of 40 consecutive patients with myelomeningocele with neuromuscular scoliosis who underwent spinal arthrodesis, treated at our center between July 1991 and July 2028. Results: Mean follow up was 10 years. There were 19 male and 21 females. The average age at operation was 13 years. The mean preoperative scoliosis curve was 90o. At last follow up, the mean scoliosis curve was 43o. Mean correction of 52%. The average of pelvic obliquity was 19o. At last follow up de obliquity was 9o. Mean correction of 53%. The mean preoperative coronal balance was 28.4 mm. At the last follow up it was 17 mm. Mean correction of 40%. The mean preoperative kyphosis was 50o. At the last follow up it was 41o. Mean correction of 18%. The mean preoperative sagittal balance was 63.3 mm. At the last follow up it was 38.3 mm. Mean correction of 40%. There were 13 complications (32.5%), with infection being the most frequently observed complication. Conclusions: The goals of the spinal surgery in patients with MMC are to obtain a stable, balanced and painless spinal fusion. Although the surgical treatment of these patients remains difficult, it is associated with high complication rate.

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.

Sexuality of Female Spina Bifida Patients: Predictors of a Satisfactory Sexual Function / Sexualidade feminina em pacientes com espinha bífida: preditores de uma função sexual satisfatória

Abstract Objective To assess the sexual function of women with spina bifida (SB), and to verify the factors that influence their sexual function. Methods A cross-sectional study in which a validated female-specific questionnaire was applied to 140 SB female patients from four different cities (Porto Alegre, Brazil; and Barcelona, Madrid, and Málaga, Spain) between 2019 and 2020. The questionnaires collected data on the clinical characteristics of SB, and female sexual function was assessed using the 6-item version of the Female Sexual Function Index (FSFI-6) validated to Portuguese and Spanish. Results Half of the patients had had sexual activity at least once in the life, but most (57.1%) did not use any contraception method. Sexual dysfunction was present in most (84.3%) patients, and all sexual function domains were impaired compared those of non-neurogenic women. The presence of urinary and fecal incontinence significantly affected the quality of their sexual activity based on the FSFI-6. Conclusion The specific clinical aspects of the SB patients, such as urinary and fecal incontinence, should be properly addressed by their doctors, since they are associated with reduced sexual activity and lower FSFI-6 scores in the overall or specific domains. There is also a need to improve gynecological care among sexually-active SB patients, since most do not use any contraceptive methods and are at risk of inadvertent pregnancy.

Resumo Objetivo Analisar a função sexual de pacientes do sexo feminino com espinha bífida (EB), e avaliar quais fatores influenciam na função sexual. Métodos Uma pesquisa transversal em que um questionário validado para mulheres foi aplicado em 140 pacientes com EB de quatro cidades diferentes (Porto Alegre, Brasil; e Barcelona, Madri e Málaga, Espanha) entre 2019 e 2020. Os questionários coletaram dados sobre características clínicas da espinha bífida, e a função sexual feminina foi avaliada com a versão de seis itens do Índice de Funcionamento Sexual Feminino (IFSF-6) nas versões validadas para português e espanhol. Resultados Metade das pacientes havia praticado atividade sexual pelo menos uma vez na vida, mas a maioria (57.1%) não utilizava nenhum método contraceptivo. A disfunção sexual estava presente na maioria das pacientes (84.3%), sendo todos os domínios de função sexual prejudicados em comparação com os de mulheres não neurogênicas. A presença de incontinência urinária e fecal afetou significativamente a qualidade da atividade sexual das pacientes. Conclusão Aspectos clínicos específicos da EB, como incontinência urinária e fecal, devem ser adequadamente abordados pelos médicos assistentes, visto que estão associados à redução na atividade sexual e piores resultados no IFSF-6. Também é necessário melhorar o atendimento ginecológico das pacientes sexualmente ativas, uma vez que a maioria não utiliza métodos contraceptivos e corre o risco de gravidez inadvertida.

Actualización del diagnóstico prenatal y cirugía fetal del mielomeningocele / Update on prenatal diagnosis and fetal surgery for myelomeningocele

A partir del estudio seminal Management of Myelomeningocele Study en el año 2011, el cual demostró que la reparación prenatal del defecto del mielomeningocele antes de la semana 26 mejoraba los resultados neurológicos, la cirugía fetal fue incorporada dentro de las opciones de estándar de cuidado. Así, el diagnóstico prenatal del mielomeningocele dentro de la ventana terapéutica se convirtió en un objetivo obligatorio y, por ello, se intensificó la investigación de estrategias de tamizaje, sobre todo, en el primer trimestre. Además, se desarrollaron distintas técnicas de cirugía fetal para mejorar los resultados neurológicos y disminuir los riesgos maternos. El objetivo de la siguiente revisión es actualizar los avances en tamizaje y diagnóstico prenatal en el primer y segundo trimestre, y en cirugía fetal abierta y fetoscópica del mielomeningocel

A seminal study titled Management of Myelomeningocele Study, from 2011, demonstrated that prenatal myelomeningocele defect repaired before 26 weeks of gestation improved neurological outcomes; based on this study, fetal surgery was introduced as a standard of care alternative. Thus, prenatal myelomeningocele diagnosis within the therapeutic window became a mandatory goal; therefore, research efforts on screening strategies were intensified, especially in the first trimester. In addition, different fetal surgery techniques were developed to improve neurological outcomes and reduce maternal risks. The objective of this review is to provide an update on the advances in prenatal screening and diagnosis during the first and second trimesters, and in open and fetoscopic fetal surgery for myelomeningocele

Evaluación del proceso de atención urológica de pacientes pediátricos con mielomeningocele / Evaluation of the urological care process of pediatric patients with myelomeningocele

Introducción: El mielomeningocele (MMC) es una de las malformaciones congénitas más severas compatible con la vida. El 90% de los pacientes presenta vejiga neurogénica que debe ser evaluada y tratada precozmente. Objetivos: Describir la evaluación y tratamiento nefrourológico recibido por pacientes con MMC hasta el momento de la primera consulta en el Hospital Garrahan (periodo pre-ingreso). Describir la evaluación realizada y el tratamiento urológico implementado a partir del ingreso al hospital Garrahan (periodo post-ingreso). Evaluar la prevalencia de Enfermedad Renal Crónica (ERC). Población y Métodos: Se realizó un estudio con diseño clínico analítico, retrospectivo, longitudinal sobre pacientes con MMC de 1 mes a 18 años derivados al Hospital Garrahan para atención ambulatoria en los años 2011 y 2012. Resultados: Se incluyeron115 pacientes. Al momento de la derivación al hospital ("pre-ingreso") 7% de los pacientes habían logrado completar evaluación nefrourológica, (ecografía vesicorenal, urodinamia, Cistouretrografía, Centellograma renal y Creatininemia). Tratamiento: 33% vaciaban vejiga por CIL o vesicostomía y 21% recibían Oxibutinina. A partir del ingreso al seguimiento en el Garrahan 83% lograron completar la evaluación, y en función del resultado de la misma se indicó CIL en 87% y Oxibutinina en el 66% de los pacientes. La prevalencia de ERC al ingreso fue de 43%; la mayoría en estadio I. Conclusiones: La mayoría de los pacientes con MMC fueron derivados al hospital de tercer nivel con evaluaciones urológicas incompletas y sin el tratamiento adecuado de la vejiga neurogénica. El inicio del seguimiento interdisciplinario en un hospital de alta complejidad facilitó la realización de las evaluaciones necesarias y la implementación del tratamiento adecuado (AU)

Introduction: Myelomeningocele (MMC) is one of the most severe congenital malformations compatible with life. Of all the patients, 90% presents with a neurogenic bladder requiring early evaluation and treatment. Objectives: To describe the uronephrological evaluation and treatment received by patients with MMC up to the first consultation at Garrahan Hospital (pre-follow-up period). To describe the urological evaluation and treatment implemented from referral to Garrahan Hospital (follow-up period). To evaluate the prevalence of chronic kidney disease (CKD). Population and Methods: A retrospective, longitudinal study with a clinical, analytical design was conducted in patients with MMC between 1 months and 18 years of age referred to Garrahan Hospital for outpatient care in 2011 and 2012. Results: 115 patients were included. At the time of referral to the hospital ("pre-follow-up") 7% of the patients had undergone complete uronephrological evaluation (kidney-bladder ultrasonography, urodynamic studies, cystourethrography, renal scintigraphy, and creatininemia levels). Treatment: 33% emptied their bladder by CIC or vesicostomy and 21% received oxybutynin. From follow-up initiation at Garrahan Hospital, 83% underwent complete evaluation, and based on the results CIC was indicated in 87% and oxybutynin in 66% of the patients. On admission, prevalence of CKD was 43%; with stage I in the majority of the patients. Conclusions: The majority of the patients with MMC were referred to a third-level hospital with incomplete urological studies and without adequate treatment of the neurogenic bladder. Initiation of interdisciplinary follow-up at a tertiary hospital allowed for the necessary studies and implementation of adequate treatment (AU)

Corrección de mielomeningocele intrautero: Reporte del primer caso en Ecuador / Case report: First intrauterine myelomeningocele correction in Ecuador

This is the case of a 26 year old patient, at week 27 of gestational age and with a prenatal diagnosis of myelomeningocele. It was decided to enter the clinic to perform the first correction of the spina bifida defect in Ecuador, with the support of a multidisciplinary team of national and foreign professionals. This procedure was carried out within international parameters and standards for the management of this pathology, with the equipment, supplies and trained personnel to carry this surgery to a successful outcome, both for the fetus and its mother. It is demonstrated that our country has the capacity of both human resources and equipment to solve highly complex pathologies.

Se trata del caso de una paciente de 26 años, en la semana 27 de edad gestacional y con un diagnóstico prenatal de mielome- ningocele. Se decide ingresar a la clínica para realizar la primera corrección de defecto de espina bífida del Ecuador, con apoyo de un equipo multidisciplinario de profesionales nacionales y extranjeros. Este procedimiento se llevó a cabo dentro de parámetros y estándares internacionales de manejo de esta patología, contando con los equipos, insumos y el personal capacitado para llevar esta cirugía a un desenlace exitoso, tanto para el feto como su madre. Queda demostrado que en nuestro país se cuenta con la capacidad tanto de recursos humanos y equipos para resolver patologías de gran complejidad.

Experiencia con la "técnica de Xiao" para reinervación de la vejiga, en pacientes con mielomeningocele y vejiga neurogénica, 8 años de seguimiento, en adultos / Experience with the "Xiao technique" for reinnervation of the bladder, in patients with myelomeningocele and neurogenic bladder, 8 years of follow-up, in adults

Objetivo: Restaurar función de vaciado vesical en pacientes con vejiga neurogénica por medio de la reinervación de la vejiga a través de la creación de reflejo sómato-visceral. Registrar complicaciones neuroquirúrgicas, urológicas y ortopédicas.Evaluar dificultades técnico-quirúrgicas y los resultados de 5 casos realizados en Argentina. Introducción: La vejiga neurogénica es una complicación secundaria al daño neurológico en los pacientes con mielomeningocele (MMC). Para lograr vaciar la vejiga deben realizar cateterismo intermitente. La técnica Xiao se basa en permitir la generación de un arco reflejo somato visceral por medio de una anastomosis entre una raíz eferente donante y la raíz motora S2 S3 que permita el vaciado vesical sin cateterismo. Material y métodos: Por medio de un estudio descriptivo retrospectivo, se analizan los resultados obtenidos luego de realizar la técnica Xiao, en el año 2010, en 5 pacientes con MMC y vejiga neurogénica. Los pacientes fueron operados en el Instituto de Rehabilitación (IREP). Fueron evaluados en forma multidisciplinaria tanto pre como en el postoperatorio por neurocirujanos, neurólogos, urólogos, clínicos y kinesiólogos. Resultados: Los pacientes que presentaron mejores resultados fueron los más jóvenes y los que no presentaban daño estructural de la vejiga al momento de la cirugía, lo que coincide con los resultados compartidos por los demás centros donde fue realizada esta técnica. Conclusiones: La técnica de Xiao puede considerarse una opción para el tratamiento de la vejiga neurogénica. Aunque nuestra serie es muy pequeña para dar conclusiones, los resultados globales de todas las series muestran resultados alentadores.

Objective: To restore bladder function in patients with neurogenic bladder through the reinnervation through restauration of somatic-visceral reflex. Record neurosurgical, urological and orthopedic complications. To evaluate technical-surgical difficulties and the results of 5 cases performed in Argentina. Introduction: Neurogenic bladder is a complication secondary to neurological damage in patients with myelomeningocele (MMC). To achieve emptying of the bladder, intermittent catheterization must be performed. The "Xiao technique" is based on allowing the generation of a visceral somatic-reflex arc by means of an anastomosis between a donor efferent root and the motor root S2-S3 that allows bladder emptying without catheterization. Material and methods: Through a retrospective descriptive study, the results obtained after performing the "Xiao technique" in 5 patients with MMC and neurogenic bladder were analyzed. The patients were operated at the Rehabilitation Institute (IREP). They were evaluated with a multidisciplinary team, both pre and post-surgery. The team was formed by neurosurgeons, neurologists, urologists, clinicians and kinesiologists. Results: The patients who presented the best results were the youngest and those who did not present structural damage of the bladder at the time of surgery, which match the results shared by the other centers where this technique was performed. Conclusions: "Xiao's technique" can be considered an option for the treatment of neurogenic bladder. Although our series is too small to make conclusions, the overall results of all the series show encouraging results

Spina Bifida - A Retrospective Study

Background: The occurrence of congenital anomalies is increasing in the present era. The incidence is estimatedto be 3-7% of the congenital disorders.Aim: The present study is focused on the spina bifida and to know the incidence of spinal defects in north Indianpopulation. This study will be helpful for providing baseline data from the north Indian population.Methodology: The present study was done on 1400 fetuses which were sent by gynecology and obstetricsdepartment of GMCH Sec. 32, Chandigarh to anatomy department for autopsy purpose during period of 2008 to2017. In every case, location and morphology of spinal defects were observed.Results: The present study showed 11.7% cases with spinal defects, out of these, 1.2% spina bifida closed(occulta) and 10.5% spina bifida open defects were noted which included 1.2% ventral spinal defects, 31.7%with meningocele, 24.3% myelomeningocele, 28.6% myelocele and 12.8% with rachischisis.Conclusions: It is important to note the detection of congenital anomalies in early stage of gestation. It isadvantageous for the obstetrician in planning the line of management whether to continue the pregnancy or not.

Alternative to the inverted "y" incision in scoliosis secondary to myelomeningocele / Alternativa à incisão em "y" invertido para escoliose secundária para mielomeningocele / Alternativa a la incisión en "y" invertido en escoliosis secundaria a mielomeningocele

ABSTRACT Objective: To evaluate the healing of the modified inverted "Y" incision in patients with scoliosis due to myelomeningocele. Methods: Retrospective study through medical records review of patients with myelomeningocele surgically treated with a modified inverted "Y" approach between January 2013 and December 2015. Results: We analyzed the medical records of six patients. Two patients progressed with skin complications in the immediate postoperative period and only one of them required surgical intervention for debridement and suturing. In another patient, it was necessary to perform two surgical reviews due to material failure without skin complications in these interventions. Conclusions: The modified inverted "Y" technique is a great alternative to traditional incision and inverted "Y" because it has good results in patients with spina bifida associated with poor skin conditions treated surgically for correction of spinal deformities. Level of Evidence IV; Case series.

RESUMO Objetivo: Avaliar a cicatrização da modificação da incisão em "Y" invertido em pacientes com escoliose decorrente de mielomeningocele. Métodos: Estudo retrospectivo, mediante revisão de prontuários dos pacientes portadores de mielomeningocele, tratados cirurgicamente por um acesso cirúrgico modificado do "Y" invertido, entre janeiro de 2013 e dezembro de 2015. Resultados: Foram analisados os prontuários de seis pacientes. Dois pacientes evoluíram com complicações de pele no pós-operatório imediato, apenas em um deles foi necessária intervenção cirúrgica para debridamento e sutura. Em outro paciente foi necessário realizar duas revisões cirúrgicas, devido a quebra do material, sem ocorrer complicações de pele em todas as abordagens. Conclusão: A variação da técnica em "Y" invertido é uma ótima alternativa à incisão tradicional e ao "Y" invertido, por apresentar bons resultados em pacientes com espinha bífida associada às condições de pele ruins, tratados cirurgicamente para correção de deformidades da coluna vertebral. Nível de evidência IV; Série de casos.

RESUMEN Objetivo: Evaluar la cicatrización de la incisión en "Y" invertida modificada en pacientes con escoliosis derivada de mielomeningocele. Métodos: Estudio retrospectivo mediante revisión de registros médicos de pacientes con mielomeningocele tratados quirúrgicamente por acceso quirúrgico en "Y" invertida modificada entre enero de 2013 y diciembre de 2015. Resultados: Se analizaron los registros médicos de seis pacientes. Dos pacientes desarrollaron complicaciones de piel en el postoperatorio inmediato y sólo en uno de ellos fue necesaria intervención quirúrgica para desbridamiento y sutura. En otro paciente fue necesario realizar dos revisiones quirúrgicas debido al quiebre del material, sin que ocurrieran complicaciones cutáneas en esas intervenciones. Conclusiones: La técnica en "Y" invertida modificada es una excelente alternativa a la incisión tradicional y la "Y" invertida por demostrar buenos resultados en pacientes con espina bífida asociada a malas condiciones cutáneas tratados quirúrgicamente para corrección de deformidades de la columna vertebral. Nivel de evidencia IV; Serie de casos.

Online health forum as a support for people who perform intermittent vesical catheterization / Fórum virtual de la salud como soporte a personas que realizan cateterismo vesical intermitente / Fórum virtual de saúde como suporte às pessoas que realizam cateterismo vesical intermitente

ABSTRACT Objective: to evaluate the use of an online forum for people with myelomeningocele and their families and the profile of the users, based on intermittent catheterization. Method: a quantitative, cross-sectional, descriptive and exploratory study. Data was collected from users of the online forum, based on an online questionnaire available from March 20 to April 20, 2015. Sample consisted of 30 users. Descriptive statistical data analyses and chi-square test were performed. Results: among users, 27% were people with myelomeningocele and 73% were family members. Age, considering the total sample, ranged from 22 to 58 years old. Women represented 67% of the sample. Most users considered the language used in the forum understandable, and also thought the forum had a proper layout and was easy to navigate. It was noted that the mother and the person with myelomeningocele are the main responsible people for intermittent catheterization; 86% use a simple plastic catheter and 14% use a hydrophilic catheter; 81% do not reuse the catheter, 10% use the same catheter for one day and 9% for up to one week. The main place chosen to perform intermittent catheterization was the bed, followed by the toilet and wheelchairs. Conclusion: the use of the online forum was well evaluated by the users. It can be considered a means to obtain information, create a support network and clarify any doubts, empowering users and contributing to adherence to intermittent catheterization, which is one of the treatments for neurogenic bladder.

RESUMEN Objetivo: evaluar el uso de un fórum virtual para personas con mielomeningocele y sus familiares y el perfil de sus usuarios, según la realización del cateterismo vesical intermitente. Método: estudio cuantitativo, transversal, descriptivo y exploratorio. Se realizó la recolección de datos con usuarios del fórum virtual, en base a una encuesta online, disponible desde el 20 de marzo al 20 de abril de 2015. La muestra estuvo compuesta por 30 usuarios. Se realizaron los análisis estadísticos, descriptivos y test chi cuadrado. Resultados: de los usuarios, 27% eran personas con mielomeningocele y 73% familiares. La edad, considerándose toda la muestra, osciló entre los 22 y 58 años. El sexo femenino representó el 67% de la muestra. La mayoría de los usuarios consideró que el lenguaje utilizado en el fórum es comprensible, la imagen es adecuada y tiene una fácil navegación. Se observó que la madre y la propia persona con mielomeningocele son las principales responsables por la realización del cateterismo vesical intermitente; 86% utilizan catéter de plástico simple y 14% el catéter hidrofilico; 81% no reutilizan el catéter, 10% utilizan el mismo catéter durante un día y el 9% incluso hasta una semana. El principal lugar de realización del cateterismo vesical intermitente fue la cama, seguida de la letrina y la silla de ruedas. Conclusión: el uso del fórum virtual fue bien evaluado por los usuarios. Se lo puede considerar un medio para obtener informaciones, formación de red de apoyo y aclarar dudas, empoderando a los usuarios y contribuyendo a la adhesión al cateterismo vesical intermitente, que es uno de los tratamientos para la vejiga neurogénica.

RESUMO Objetivo: avaliar o uso de um fórum virtual para pessoas com mielomeningocele e seus familiares e o perfil dos usuários, de acordo com a realização do cateterismo vesical intermitente. Método: estudo quantitativo, transversal, descritivo e exploratório. A coleta de dados foi realizada com usuários do fórum virtual, com base em um questionário online, disponibilizado de 20 de março a 20 de abril de 2015. A amostra foi composta de 30 usuários. Foram realizadas análises estatísticas descritivas e teste qui-quadrado. Resultados: dos usuários, 27% eram pessoas com mielomeningocele e 73% familiares. A idade, considerando a amostra total, variou de 22 a 58 anos. O sexo feminino representou 67% da amostra. A maioria dos usuários considerou a linguagem utilizada no fórum compreensível, o visual adequado e a navegação fácil. Foi observado que a mãe e a própria pessoa com mielomeningocele são os principais responsáveis pela realização do cateterismo vesical intermitente; 86% utilizam cateter de plástico simples e 14% o cateter hidrofílico; 81% não reutilizam o cateter, 10% utilizam o mesmo cateter durante um dia e 9% por até uma semana. O principal local de realização do cateterismo vesical intermitente foi a cama, seguida pelo vaso sanitário e cadeira de rodas. Conclusão: o uso do fórum virtual foi bem avaliado pelos usuários. Ele pode ser considerado um meio para obtenção de informações, formação de rede de apoio e esclarecimento de dúvidas, empoderando os usuários e contribuindo para a adesão ao cateterismo vesical intermitente, que é um dos tratamentos para a bexiga neurogênica.

Cirugía fetoscópica en mielomeningocele

Myelomeningocele affects 17,8 in 100 000 newborns. It is one of the ten leading causes of death in children under the age of 10 in Mexico and it is associated with high cognitive, sensory and motor morbidity. Studies in animals and, later, the Management of Myelomeningocele Study (MOMS), showed that the repair of prenatal neural tube defects decreases the risk of hydrocephalus and improves motor function at the age of 30 months. Prenatal fetal surgery for myelomeningocele described in MOMS is performed through hysterotomy, and is associated to significant maternal and fetal morbidity. Thus, the therapeutic approach has evolved to fetoscopic techniques with less maternal and fetal complications and better perinatal results. In this section, we describe the different fetoscopic techniques, their evolution, advantages and disadvantages, and the challenges for fetal surgical techniques in the future.

El mielomeningocele se presenta en 17,8:100 000 nacidos vivos. En México se encuentra entre las primeras 10 causas de muerte en niños menores de 10 años y está asociado a alta morbilidad cognitiva, sensorial y motora. Estudios en animales y posteriormente el estudio MOMS (The Management of Myelomeningocele Study) demostró que la reparación prenatal de los defectos del tubo neural disminuye el riesgo de hidrocefalia y mejora la función motora a los 30 meses de edad. La cirugía fetal prenatal descrita en el MOMS para el mielomeningocele se realiza a través de una histerotomía, la cual se asocia con significativa morbilidad materna y fetal. Por lo tanto, se ha evolucionado a técnicas fetoscópicas con menos complicaciones maternas y fetales, obteniendo mejores resultados perinatales. En este apartado se describe las diferentes técnicas fetoscópicas, su evolución, ventajas y desventajas en cada una de ellas, así como los retos en el futuro.

Independência funcional de crianças de um a quatro anos com mielomeningocele / Independencia funcional de niños de un a cuatro años con mielomeningocele / Functional independence of one- to four-year-old children with myelomeningocele

RESUMO A mielomeningocele é causada por defeito no fechamento do tubo neural. A doença representa a segunda causa de deficiência crônica no aparelho locomotor em crianças. A independência funcional depende do nível da lesão medular e sua avaliação é importante para a determinação de abordagens terapêuticas adequadas. O objetivo foi descrever a independência funcional e o nível de lesão de 15 crianças de seis meses a quatro anos com lesão medular completa causada por mielomeningocele. Foi realizado um estudo observacional do tipo transversal nas Universidades Ibirapuera e Santa Cecília. O Inventário de Avaliação Pediátrica de Incapacidade (Pediatric Evaluation of Disability Inventory - PEDI) foi aplicado com os pais, para avaliação da independência funcional nas atividades de vida diária das crianças. A escala de Padrões Internacionais para Classificação Neurológica de Lesão da Medula Espinhal da Associação Americana de Lesão Medular (International Standards for Neurological Classification of Spinal Cord Injury of the American Spinal Injury Association) foi utilizada para determinar o nível motor e sensitivo da lesão. Foram avaliados seis meninos e nove meninas (27,0±11,8 meses de idade). Três crianças apresentaram lesão torácica, nove apresentaram lesão lombar alta, duas apresentaram lesão lombar baixa e uma apresentou lesão sacral. As pontuações na PEDI variaram de 15 a 60% no domínio autocuidado, de 10 a 15% no domínio mobilidade e de 19 a 58% no domínio função social. Houve grande variabilidade no desempenho funcional de crianças com mielomeningocele, detectada pelos domínios autocuidado e função social da PEDI. As crianças apresentaram grande prejuízo no domínio mobilidade.

RESUMEN El mielomeningocele es causado por defecto en el cierre del tubo neural. La enfermedad representa la segunda causa de deficiencia crónica en el aparato locomotor en niños. La independencia funcional depende del nivel de la lesión medular y su evaluación es importante para determinar enfoques terapéuticos adecuados. El objetivo fue describir la independencia funcional y el nivel de lesión de 15 niños de seis meses a cuatro años con lesión medular completa causada por mielomeningocele. Se realizó un estudio observacional del tipo transversal en las Universidades Ibirapuera y Santa Cecilia. Se aplicó el Inventario de Evaluación Pediátrica de Discapacidad (Pediatric Evaluation of Disability Inventory, PEDI) con los padres para evaluar la independencia funcional en las actividades de vida diaria de los niños. La escala de Estándares Internacionales para la Clasificación Neurológica de la Lesión Medular de la Asociación Americana de la Lesión Medular (International Standards for Neurological Classification of Spinal Cord Injury of the American Spinal Injury Association) fue utilizada para determinar el nivel motor y sensitivo de la lesión. Se evaluaron seis niños y nueve niñas (27,0 ± 11,8 meses de edad). Tres niños presentaron lesión torácica, nueve presentaron lesión lumbar alta, dos presentaron lesión lumbar baja y una presentó lesión en el sacro. Las puntuaciones en la PEDI variaron del 15 al 60% en el dominio autocuidado, del 10 al 15% en el ámbito de la movilidad y del 19 al 58% en el ámbito de la función social. Hubo gran variabilidad en el desempeño funcional de los niños con mielomeningocele, detectada por los campos autocuidado y función social de la PEDI. Los niños presentaron gran daño en el dominio de la movilidad.

ABSTRACT Myelomeningocele is caused by neural tube closure defects and represents the second cause of locomotion disability in children. Functional independence depends on level of spine injury and assessment is important to determine proper therapeutic approaches. We aimed to describe functional Independence and level of injury in 15 children, aged one to four years and with complete spinal cord injury caused by myelomeningocele. This is an observational transversal study developed in the Ibirapuera University and Santa Cecília University. The Pediatric Evaluation of Disability Inventory (PEDI) was used to ask parents about the functional independence of children in daily life activities. The International Standards for Neurological Classification of Spinal Cord Injury of the American Spinal Injury Association was used to determine the motor and sensory levels. Nine girls and six boys were assessed (27.0 ±11.8 months of age). Three children showed thoracic level, nine showed high lumbar level, two were classified as low lumbar, and one as sacral level. PEDI scores varied from 15 to 60% on the self-care area, from 10 to 15% on mobility, and from 19 to 58% on social function. High variability was observed on the functional independence of children with myelomeningocele, detected by self-care and social function areas of PEDI. Mobility was the most affected domain.

Cirugía fetal de Mielomeningocele: evolución obstétrica y resultados perinatales a corto plazo de una cohorte de 21 casos / Fetal surgery for myelomeningocele: obstetric evolution and short-term perinatal results of a cohort of 21 cases

Objetivo: Describir la técnica quirúrgica, evolución obstétrica y resultados perinatales de una cohorte de pacientes sometidas a cirugía intrauterina para reparación de una disrafia fetal abierta (DFA). Métodos: Análisis prospectivo de 21 casos consecutivos de DFA con diagnóstico y tratamiento quirúrgico prenatal en nuestra institución entre 2015 y 2017. La técnica de la cirugía fetal (QF) fue similar a la descripta en el estudio MOMS, excepto que se utilizó histerotomía con asa bipolar. Los cuidados postoperatorios, nacimiento y cuidados neonatales se realizaron en la misma institución. Se analizaron complicaciones perioperatorias de la QF, la evolución obstétrica y los resultados perinatales. Resultados: La QF se realizó a una edad gestacional media de 25.8 semanas (24.1-27.6). La edad gestacional media al nacer fue 34.2 semanas (29.2-37.1). El tiempo quirúrgico medio fue 138 min (101-187) con tendencia descendente y el tiempo de internación medio, 7.1 días (4-32). El 52% (11/21) de las pacientes experimentó rotura prematura de membranas (RPM). Ninguna paciente requirió transfusiones postcesárea. No hubo casos de desprendimiento placentario, rotura uterina ni muertes maternas. La cicatrización de la histerorafia fue normal en 95% de las pacientes. La sobrevida perinatal fue del 95% (20/21, una muerte intrauterina secundaria a banda amniótica). La necesidad de cierre cutáneo postnatal (CCP) fue del 5%. Ninguno de los casos (20) reparados con tejidos fetales requirió CCP. El 70% (14/20) de los pacientes no requirió ningún tratamiento para hidrocefalia. Cuatro pacientes (20%) requirieron una derivación ventriculoperitoneal (DVP) y dos más fueron sometidos adicionalmente, a una tercer ventriculostomía endoscópica (ETV) (10%). El nivel funcional motor neonatal (NFN) fue mejor que el nivel anatómico prenatal (NAP) en 45% (9/20), igual en 50% (10/20) y peor en 5% (1/20). Conclusiones: El presente estudio confirma que la cirugía fetal de disrafias abiertas se asocia a un mayor riesgo de parto prematuro y rotura prematura de membranas, pero reduce significativamente la necesidad de tratamiento postnatal de hidrocefalia y mejora la función motora a corto plazo. Nuestros resultados son similares a los publicados en el ensayo aleatorizado MOMS.

Objective: To describe the surgical technique, obstetrical evolution and perinatal outcomes of a cohort of fetuses undergoing intrauterine surgery to repair open spina bifida (OSB). Methods: We performed a prospective analysis of 21 consecutive fetuses with OSB at our institution between 2015 and 2017. The surgical technique was similar to that described in the MOMS trial, except that the hysterotomy was performed using a bipolar dissector. Post-operative maternal and infant care both were provided at the same institution. There were no losses to follow-up. Surgical and obstetrical complications and perinatal outcomes were analyzed. Results: Fetal surgery was performed at a mean gestation of 25.8 weeks (24.1-27.6). The mean gestational age at birth was 34.2 weeks (29.2-37.1). The mean surgical time was 138 min (101-187), the duration of surgery trending downward over time; while the average admission length was 7.1 days (4-32). Fifty two percent (11/21) of the patients experienced pre-term premature rupture of membranes (pPROM). No patient required any post-cesarean transfusions. There were no instances of placental abruption, uterine rupture, or maternal death. Uterine scar healing was normal in 95% of the patients. All but one of the 21 fetuses (95%) survived, the one fetal death due to an amniotic band. The need for postnatal skin closure (PSC) was 5%, with one of 20 repaired prenatally with a synthetic skin patch. No case (19) repaired with fetal tissues required PSC. Seventy percent (14/20) of the infants required no further treatment for hydrocephalus over their first year of life; four patients (20%) required a ventriculoperitoneal shunt (VPS), while two others underwent an endoscopic third ventriculostomy (ETV) (10%). Neonatal motor function (NMF) was better than the prenatal anatomical level (PAL) in 45% (9/20), equal in 50% (10/20), and worse in 5% (1/20). Conclusions: Our data confirm that fetal surgery for OSB is associated with an increased risk of preterm delivery and PROM, but significantly reduces the need for postnatal treatment of hydrocephalus and improves short-term motor outcomes. Our results are similar to those published for the randomized MOMS trial.

Composición corporal y gasto energético en población de niños y adolescentes con mielomeningocele / Body composition and energy expenditure in a population of children and adolescents with myelomeningocele

Introducción: El mielomeningocele es un defecto congénito con cierre incompleto del tubo neural. Presenta alteraciones en la composición corporal y alta prevalencia de obesidad. Es difícil detectar el indicador más apropiado para diagnóstico nutricional por impresición de las medidas antropométricas. Objetivo: Describir en una población de pacientes con mielomeningocele seguidos en el "Hospital Garrahan", la composición corporal, gasto energético en reposo y trastornos metabólicos, comparando los pacientes con mielomeningocele obesos con una población control con obesidad multifactorial. Población y Métodos: Se realizó antropometría, impedanciometría, pliegues cutáneos, perímetro braquial, calorimetría indirecta y determinaciones bioquímicas a todos los pacientes con mielomeningocele entre junio/2013-abril/2014, previa firma del Consentimiento Informado. Resultados: Se evaluaron 131 pacientes de 0,718,6 años, clasificados según Score-Z de Índice de Masa Corporal en 15% bajo peso, 42% normopeso, 12% sobrepeso y 31% obesidad. Se encontró alta correlación (r²0,74) entre %masa grasa por impedanciometría vs calculado con pliegues cutaneos. Los pacientes con % masa grasa elevada vs %masa grasa normal tuvieron mayor score-Z de Indice de Masa Corporal (1,07 vs -0,27 p0,0001) aunque ambos valores se encontraban dentro de parámetros normales. Hubo menor gasto energético en reposo en los pacientes con mielomeningocele obesos comparado con el esperado y con obesos multifactoriales. Conclusiones: Se encontró alto porcentaje de sobrepeso/obesidad en la población con mielomeningocele. Los pliegues cutáneos serían más apropiados para detectar obesidad. Los pacientes con mielomeningocele obesos presentaron gasto energetico en reposo menor al esperado y a los controles. La indicación de energía debe ser personalizada.

Introduction. Myelomeningocele is a congenital defect that occurs when the neural tube fails to close completely. It causes body composition alterations and a high prevalence of obesity. It is difficult to detect the most adequate indicator for a nutritional diagnosis due to the impossibility of recording accurate anthropometric measurements. Objective. To describe body composition, resting energy expenditure and metabolic disorders in a population of patients with myelomeningocele managed at "Hospital Garrahan" by comparing obese patients with myelomeningocele and a control population with multifactorial obesity. Population and methods. An anthropometry, an impedance analysis, skinfold equations, arm circumference equations, indirect calorimetry, and biochemical determinations were done to all patients with myelomeningocele between June 2013 and April 2014, once the informed consent had been signed. Results. 131 patients aged 0.7-18.6 years were assessed; they were classified according to their body mass index Z-score into low weight (15%), normal weight (42%), overweight (12%), and obese (31%). A high correlation (r: 20.74) was observed between the fat mass % measured by impedance analysis versus that estimated using skinfolds. Patients with a high fat mass % had a higher body mass index Z-score than those with a normal fat mass % (1.07 versus -0.27, p: 0.0001) although both values were within normal parameters. A lower resting energy expenditure was observed among obese patients with myelomeningocele than predicted and in comparison with multifactorial obese controls. Conclusions. A high percentage of overweight/obesity was found in the population with myelomeningocele. Skinfold equations would be more adequate to detect obesity. Obese patients with myelomeningocele had a lower resting energy expenditure than predicted and in comparison with controls. Energy indication should be customized.