Height and body mass index distribution in children and adolescents with and without spina bifida

Abstract Objective Children with spina bifida (SB) are at risk for stunting and overweight. However, height and Body Mass Index (BMI) z-score distribution in children and adolescents with SB are unclear. The aim of this study was to examine height and BMI z-score distribution in Brazilian children and adolescents with and without SB. This study further aimed to examine whether height and BMI z-scores differ between individuals with and without SB. Method This study included 101 participants (SB: n= 18; non-SB: n= 83, aged 7-16 years). The World Health Organization (WHO) AnthroPlus software was used to calculate height and BMI z-scores. AnthroPlus z-score distribution graphs were used to examine individual z-scores based on the 2007 WHO normal distribution curve. Effects of the group (SB vs non-SB) on height and BMI z-scores were examined with sequential regression. Results In the WHO distribution graph analysis, height z-scores of participants with SB were slightly left-shifted compared to the WHO normal distribution curve. In the regression analysis, group (SB vs non-SB) was a significant predictor of height z-scores after controlling for sex and age (ΔR2= 0.064, p= 0.010). BMI z-scores of participants with SB were right-shifted compared to the WHO normal curve. However, there was no contribution of the group to BMI z-scores (ΔR2= 0.011, p= 0.301). Conclusions These findings suggest that Brazilian children and adolescents with SB may be at risk for reduced height and increased BMI.

Transanal irrigation to manage neurogenic bowel in the pediatric population with spina bifida: a scoping review

Abstract Objective To map available scientific evidence about the pediatric population with spina bifida submitted to transanal irrigation to manage signs and symptoms of neurogenic bowel. Source of data This research was developed according to recommendations from the Joanna Briggs Institute Reviewers' Manual and the PRISMA Extension for Scoping Reviews. Searches were carried out in the databases: CINAHL, Medline/Pubmed, Scielo, Scopus, Web of Science, Embase, LILACS, Proquest, and the CAPES catalog of theses and dissertations. Quantitative and qualitative studies on the topic were included, as long as they dealt with this population. There was no predetermined time frame. Summary of the findings The authors found 1.020 studies, selected 130 for close reading, and included 23 in the review, all of which had been published from 1989 to 2021. The authors mapped the characteristics of the studies, including their definitions of concepts and use of scales, criteria for the indication of transanal irrigation, training to carry out the procedure, devices and solutions used, number and frequency of transanal irrigations, health care actions, time spent, associated complications, complementary exams, adherence rate, follow-up, and outcomes, focusing on the benefits for bowel management. Conclusions Despite the variability of evaluation parameters and term definitions, evidence suggests that transanal irrigation is a safe and effective method to manage fecal incontinence. Studies in the field are likely to grow, using standardized scales and longitudinal follow-ups. The authors suggest further research on transanal irrigation in the pediatric population with spina bifida in the Latin American context.

Aspects épidémiologiques et thérapeutiques des pathologies neurochirurgicales chez l'enfant de moins de 5 ans à Libreville (Gabon) de 2019 à 2021 / Epidemiology and management of neurosurgical diseases of children aged 5 years or less in Libreville (Gabon) from 2019 to 2021

Introduction. Les pathologies neurochirurgicales sont un ensemble d'affections qui touche le cerveau, la moelle épinière, et les paires crâniennes nécessitant une prise en charge médico-chirurgicale. Leur incidence en Afrique sub-saharienne et plus particulièrement au Gabon est mal connue. Objectif. Décrire les aspects épidémiologiques et évolutifs des pathologies neurochirurgicales chez l'enfant de moins 5 ans à Libreville. Patients et méthodes. Il s'agit d'une étude rétrospective descriptive et analytique, multicentrique portant sur des patients de moins de 5ans pris en charge pour une affection neurochirurgicale de Janvier 2019 à Décembre 2021 à Libreville. Résultats. Sur 4811 enfants hospitalisés, 130 répondaient aux critères d'inclusion (prévalence : 2,7%). L'âge moyen était de 13,1 mois. Le sex-ratio était de 1,3. Les grossesses étaient mal suivies dans 72,2% des cas. Les pathologies neurochirurgicales malformatives représentaient 63,5%. L'hydrocéphalie était la plus observée dans 71,2%. Sur les 115 enfants, 71 ont bénéficié d'un traitement chirurgical, soit un taux de 61,7% et le taux de mortalité globale était de 6,1%. Dans le groupe des enfants présentant une malformation congénitale, 8,2% n'avaient pas été traités, le taux de mortalité était de 8,2%. Les complications à court termes étaient dominées par les infections. Conclusion. Les pathologies neurochirurgicales sont en fréquentes dans notre contexte. Une prise en charge immédiate reste de mise, nécessitant donc un plateau technique de pointe pour améliorer l'évolution à court terme voire à moyen et long terme de ces affections.

Introduction. Neurosurgical pathologies are a set of conditions that affect the brain, spinal cord, and cranial pairs requiring medical and surgical management. Their incidence in subSaharan Africa and more particularly in Gabon is poorly known. Objective. To describe the epidemiological and evolutionary aspects of neurosurgical pathologies in children under 5 years old in Libreville. Patients and methods. This is a retrospective descriptive and analytical, multicenter study of patients under 5 years of age treated for a neurosurgical condition from January 2019 to December 2021 in Libreville. Results. Of the 4811 hospitalized children, 130 met the inclusion criteria (prevalence of 2.7%) and 15 were excluded for incomplete records. The average age was 13.1 months. The age group of 28 days-1 year was the most observed. The sex ratio was 1.3. Pregnancies were poorly followed in 72.2% of cases. Malformative neurosurgical pathologies accounted for 63.5% of cases. Hydrocephalus was the most observed in 71.2%. Of the 115 children, 71 received surgical treatment, a rate of 61.7% and the overall mortality rate was 6.1%. In the group of children with congenital malformation, 8.2% had not been treated, the mortality rate was 8.2%. Short-term complications were dominated by infections. Conclusion. Neurosurgical pathologies are frequent in our context. Immediate care remains essential, therefore requiring a cutting-edge technical platform to improve the short-term or even medium- and long-term evolution of these conditions.

Diagnosis of fetal closed spina bifida without subcutaneous mass with prenatal ultrasound / 中华围产医学杂志

Objective:To investigate the prenatal ultrasound findings and clinical prognosis in fetal closed spina bifida without subcutaneous mass.Methods:This retrospective study included nine fetuses diagnosed with closed spina bifida without subcutaneous mass by prenatal ultrasound in Women's Hospital of Jiangnan University from October 2016 to February 2022. Descriptive analysis was used to summarize the ultrasonographic features, MRI findings, genetic testing results, pregnancy outcomes and follow-up data.Results:The diagnosis of fetal closed spina bifida without subcutaneous mass was confirmed in all cases by MRI, X-ray examination or ultrasound after termination or neonatal surgery. Four cases presenting with various degrees of sacral vertebra defects had caudal regression syndrome complicated by other malformations. Two cases had dermal sinus, presenting with subcutaneous hypoechoic sinus tract connecting to the spinal canal. Lipoma terminalis were found in two fetuses who presented with intraspinal hyperechoic mass. One fetus with diastematomyelia showed short linear strong echoes and double spinal cord echoes in the spinal canal with butterfly vertebrae. The location of the conus medullaris was lower in seven cases and normal in one fetus. The other one case had unclear position of the conus medullaris. No postoperative complications occurred in the two cases (one with dermal sinus and one with lipoma terminalis) receiving postnatal surgery and both infants grew and developed normally. Fetal death occurred in one case and six pregnancies were terminated.Conclusions:Closed spina bifida without subcutaneous mass typically has ultrasonographic features. Detection of spinal cord echoes in the spinal canal can improve the prenatal detection rate. Whether it is complicated with malformation affects its prognosis. Prenatal ultrasound diagnosis may provide information for prognosis consultation and postpartum treatment.

Validação de conteúdo e análise da adesão ao uso da cartilha "Orientações para a Manutenção da Qualidade de Vida ­ Espinha Bífida" em crianças e adolescentes deambuladores e não deambuladores com espinha bífida / Content validit and analysis of adherence to the use of the booklet "Orientações para a Manutenção da Qualidade de Vida ­ Espinha Bífida" in ambulator and non-ambulator children and adolescents with spina bifida

Objetivo: A partir da produção de uma cartilha de exercícios domiciliares "Orientações para a Manutenção da Qualidade de Vida Espinha Bífida", objetivou-se validar o conteúdo, realizar a avaliação do material (cartilha) pelos cuidadores, e analisar a adesão ao uso da cartilha. Métodos: Para validação do conteúdo, 8 juízes especialistas avaliaram a cartilha por meio de um questionário adaptado e foi estabelecido o índice de validade de conteúdo (IVC) para cada aspecto abordado. Na avaliação do material realizada pelos cuidadores e na análise da adesão ao uso da cartilha, participaram 10 crianças e adolescentes com espinha bífida e seus cuidadores. O pesquisador leu a cartilha e treinou os exercícios na presença do paciente e de seu cuidador, indicando como deveriam ser realizados em domicílio. Após a entrega foi marcado um retorno presencial, em 15 dias, para que os cuidadores pudessem relatar sobre a avaliação do material assim como, descrever sobre a adesão desses participantes ao uso da cartilha. Por fim, foi agendado um segundo encontro - follow-up ­ para analisar a adesão em longo prazo. Resultados: Dos 27 aspectos abordados na validação do conteúdo, 24 destes receberam pontuação acima do índice aceitável (IVC = 1,00). A maior parte dos cuidadores responderam "concordo" ou "concordo totalmente" para todos os itens analisados referente à avaliação do material. Em curto prazo foi observada uma taxa de adesão de 25% dos participantes e em longo prazo de 12,5%. Conclusão: A cartilha "Orientações para a Manutenção da Qualidade de Vida ­ Espinha Bífida" por apresentar clareza dos itens apresentados, facilidade de leitura e adequada compreensão, segundo a avaliação dos juízes especialistas e dos cuidadores, mostrou ser um ótimo recurso para incrementar o tratamento fisioterapêutico de criança e adolescentes com espinha bífida, porém evidenciou uma moderada/baixa adesão por parte dos participantes. [au]

Objective: From the production of a booklet of home exercises "Orientações para a Manutenção da Qualidade de Vida ­ Espinha Bífida", the aim was to validate the content, carry out the evaluation of the material (booklet) by caregivers, and analyze the adherence to the use of the booklet. Methods: For content validation, 8 expert judges evaluated the booklet through an adapted questionnaire, and the content validity index (CVI) was established for each aspect addressed. In the evaluation of the material carried out by the caregivers and in the analysis of adherence to the use of the booklet, 10 children and adolescents with spina bifida participated in this study. The booklet was read with the patients and their caregivers,who were trained to perform the exercises that are in the booklet at home. After delivery, a face-to-face return was scheduled, in 15 days, so that caregivers could report on the evaluation of the material as well as describe the adherence of these participants to the use of the booklet. Finally, a second meeting was scheduled - follow-up - to analyze long-term adherence. Results: Of the 27 aspects addressed in the content validation, 24 of these received scores above the acceptable index (CVI = 1.00). Most caregivers answered "agree" or "strongly agree" to all items analyzed regarding the evaluation of the booklet. In the short term, there was an adherence rate of 25% of the participants, and in the long term, 12.5%. Conclusion: The booklet "Orientações para a Manutenção da Qualidade de Vida ­ Espinha Bífida" proved to be a great resource to increase the physical therapy treatment of children and adolescents with spina bifida, according to the evaluation of expert judges and caregivers, for presenting adequate content, language and appearance, but showed moderate/low adherence by the participants. [au]

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.

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.

Morphological Variations of Sacrum in Adult Indian Population

Introduction: The sacrum is considered as a highly variable bone. Several morphological variations have been documented which exhibit differences in the frequency of occurrence and morphological characteristics in various study populations. Variant anatomy of the sacrum may be associated with backache, enuresis, neurological anomalies of the lower limb and functional disorders of lower urinary tract. Purpose: The purpose of this study was to identify and describe morphological variations of sacrum in Indian population and enable comparison with different populations. Materials and Methods: The study was conducted on 108 dry adult human sacra and morphological characteristics and variations were noted. Results: Sacral skewness was observed in 7.4% sacra with right sided skewness being predominant. The presence of accessory auricular surface (AAS) was noted in 13% sacra which was at the level of S3 vertebra in most sacra. Spina bifida (SB) was observed in 11.1% sacra and it was most commonly located at S1 vertebral level. Furthermore, the lumbo-sacral transitional vertebra (TV) was documented in 10.2% sacra. Conclusions: Sacrum displays numerous variations in Indian population such as skewness, AAS, SB and TV. Thorough knowledge of morphological characteristics and variations of sacrum is vital and should be contemplated during diagnosis and treatment of sacrum-related diseases.

Técnica com retalho muscular duplo e fasciocutâneo na correção de úlceras isquiáticas por pressão / Technique with double muscle and fasciocutaneous flap in the correction of sciatic pressure ulcers

Úlceras por pressão são lesões ocasionadas na pele e tecidos subjacentes devido à força de pressão local, geralmente em pontos de proeminências ósseas. Cita-se aqui o caso de uma paciente acamada devido à lesão medular por mielomeningocele que evoluiu com úlcera em região isquiática à direita, tratada com técnica de retalhos muscular e fasciocutâneo de face posterior da coxa. Por ser lesão rotineiramente encontrada nesses pacientes portadores de limitações funcionais, é fundamental a realização de tratamentos adequados que visem a melhora clínica do paciente e minimizar índice de recidivas. Além disso, é de suma importância a implementação de novas técnicas cirúrgicas, haja vista a enorme variedade de lesões por pressão

Pressure ulcers are injuries to the skin and underlying tissues due to local pressure force, usually at points of bony prominence. We mention here the case of a bedridden patient due to a spinal cord injury caused by myelomeningocele that evolved with an ulcer in the right sciatic region, treated with the muscle flap and fasciocutaneous flap technique of the posterior thigh. As it is a lesion routinely found in these patients with functional limitations, it is essential to carry out appropriate treatments aimed at improving the patients clinical condition and minimizing the rate of recurrences. In addition, the implementation of new surgical techniques is of utmost importance, given the enormous variety of pressure injuries

Counting of fetal caudal vertebral body ossification center below terminal conus medullaris in the screening of the closed spine bifida and tethered cord syndrome / 中华超声影像学杂志

Objective:To assess the significance of counting the number of caudal vertebral ossification centers (OCN) below fetal terminal conus medullaris in the screening for closed spina bifida and tethered cord syndrome (TCS).Methods:The OCN was counted in 961 normal fetuses(normal group) between 17 and 41 gestational weeks and in 140 fetuses with closed spina bifida or tethered cord syndrome(abnormal group) from Jan.2013 to Dec.2020 in Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Women and Children′s Hospital, School of Medicine, Xiamen University and Maternity and Child Health Care of Guangxi Zhuang Autonomous Region. The OCN was counted in the dorsal mid-sagittal section of fetal caudal spine.The reliability and agreement test were evaluated by intraclass correlation coefficients in another 50 normal fetuses. The OCN was compared between two groups. ROC curve and the cut-off value were constructed and calculated.Results:In normal group, the N increased with the growing of gestational age.In the subgroup of 17-20 weeks, the OCN ranged from 5 to 7 in most fetuses. In the others subgroups, the OCN was equal to or greater than 6 in 99.9% cases and more than 6 in 97.1% cases. In abnormal group, OCN was less than 7 in 93.0% fetuses and less than 6 in 82.8% cases. There were statistical differences between the two groups except for the subgroup of 17-20 gestational weeks( P<0.05). With the cut-off value of 6.5, the specificity and sensitivity were 93.0% and 94.3% respectively for predicting the presence of closed spinal dysraphism or TCS. Conclusions:OCN is a simple way to evaluate the position of conus medullaris and to screen for the skin-covered spine dysraphism or TSC. OCN is more than 6 in most normal fetuses. Further evaluation of spine is required in fetuses with N less than or equal to 6.

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.

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

Meningocele sacro anterior gigante y síndrome de Currarino incompleto en paciente adulta: reporte de un caso

Anterior sacral meningocele is a protrusion of the dural sac through a bone defect in the sacrum anterior wall. It can occur in isolation or be associated with other malformations, such as the Currarino syndrome, which is part of the classic triad together with hemisacrum and anorectal malformation, although it has great variability. This is the case of an adult woman with chronic constipation, recurrent urinary infection and marked abdominal distension, diagnosed with giant anterior sacral meningocele and incomplete Currarino syndrome. The patient underwent a sacral laminectomy and thecal sac ligation at the level of the bone defect. This article describes this rare type of occult spinal dysraphism as well as the surgical technique used.

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.

Rehabilitation Medical Services for Children with Spina Bifida at Children's Hospitals and Related Institutions in Japan / The Japanese Journal of Rehabilitation Medicine

Spina bifida is a disease that requires cross-disciplinary treatment for each life stage from the neonatal period to adulthood. Various rehabilitation therapies are required depending on the life stage of patients. In this study, we aimed to clarify the current status of rehabilitation services at children's hospitals in order to improve quality of rehabilitation care for children with spina bifida. We performed a survey targeted at the Japanese Association of Children's Hospitals and Related Institutions. The framework of the cross-disciplinary co-operation of medical treatments for spina bifida existed in 67% of children's hospitals surveyed. In most of these hospitals, the departments of rehabilitation medicine participated in these frameworks. In the medical treatment for children with spina bifida, acute phase rehabilitation after orthopaedic surgery was adequately provided in children's hospitals. However, convalescent and community-based phase rehabilitation therapies, and the co-operation with education institutions or habilitation/rehabilitation facilities for children were determined to be inadequate. Regarding general paediatric rehabilitation, convalescent and community-based phase rehabilitation therapies were mainly provided outside children's hospitals：habilitation/rehabilitation facilities for children mainly provided convalescent and community-based phase rehabilitation therapies and were considered to be the desirable setting for such therapies. To improve paediatric rehabilitation, including the rehabilitation for children with spina bifida, several factors need to be considered. These include the construction of appropriate frameworks for medical services (such as personnel training and the recruitment of rehabilitation doctors, therapists, and related staff), and co-operation with regional education institutions or habilitation/rehabilitation facilities for children.

Rehabilitation Medical Services for Children with Spina Bifida at Children's Hospitals and Related Institutions in Japan / The Japanese Journal of Rehabilitation Medicine

Spina bifida is a disease that requires cross-disciplinary treatment for each life stage from the neonatal period to adulthood. Various rehabilitation therapies are required depending on the life stage of patients. In this study, we aimed to clarify the current status of rehabilitation services at children's hospitals in order to improve quality of rehabilitation care for children with spina bifida. We performed a survey targeted at the Japanese Association of Children's Hospitals and Related Institutions. The framework of the cross-disciplinary co-operation of medical treatments for spina bifida existed in 67% of children's hospitals surveyed. In most of these hospitals, the departments of rehabilitation medicine participated in these frameworks. In the medical treatment for children with spina bifida, acute phase rehabilitation after orthopaedic surgery was adequately provided in children's hospitals. However, convalescent and community-based phase rehabilitation therapies, and the co-operation with education institutions or habilitation/rehabilitation facilities for children were determined to be inadequate. Regarding general paediatric rehabilitation, convalescent and community-based phase rehabilitation therapies were mainly provided outside children's hospitals：habilitation/rehabilitation facilities for children mainly provided convalescent and community-based phase rehabilitation therapies and were considered to be the desirable setting for such therapies. To improve paediatric rehabilitation, including the rehabilitation for children with spina bifida, several factors need to be considered. These include the construction of appropriate frameworks for medical services (such as personnel training and the recruitment of rehabilitation doctors, therapists, and related staff), and co-operation with regional education institutions or habilitation/rehabilitation facilities for children.

Recursos fisioterapêuticos nas disfunções miccionais em injúrias espinhais congênitas / Physiotherapeutic resources in voiding dysfunctions in congenital spinal injuries

Malformações congênitas são alterações morfológicas com origem no desenvolvimento embrionário e podem ser devido a causas genéticas, ambientais ou ambas. Em indivíduos que sofrem de injúrias espinhais congênitas, a bexiga neurogênica (BN) é um dos acometimentos com maior impacto na vida diária e o principal objetivo urológico é melhorar o manejo urinário e a continência social, para diminuir altas pressões vesicais e prevenir danos renais. Esta condição reflete diversas repercussões, como a diminuição na qualidade de vida, progressão para procedimentos invasivos, lesão renal e ao óbito. Objetivo: Revisar sistematicamente os estudos publicados nos últimos 10 anos a respeito da atuação da fisioterapia na incontinência urinária (IU) nas injúrias espinhais congênitas. Métodos: Revisão sistemática de literatura realizada através de busca, entre os anos de 2009 a 2019, nas bases de dados eletrônicas PubMed, Bireme e PEDro. Resultados: Não houve grande conformidade em relação às técnicas utilizadas, mas sim em relação aos desfechos analisados, sendo verificado estudos sobre IU na espinha bífida. Conclusão: A fisioterapia mostrou-se benéfica para os casos de IU nas injúrias espinhais congênitas, melhorando os parâmetros urodinâmicos e o desfecho no diário miccional. (AU)

Congenital malformations are morphological changes originating from embryonic development and can be due to genetic, environmental or both. In individuals suffering from congenital spinal injuries, the neurogenic bladder (BN) is one of the disorders with the greatest impact on daily life and the main urological objective is to improve urinary management and social continence, to decrease high bladder pressures and prevent kidney damage. This condition reflects several repercussions, such as a decrease in quality of life, progression to invasive procedures, kidney injury and death. Objective: To systematically review the studies published in the last 10 years regarding the role of physical therapy in urinary incontinence (UI) in congenital spinal injuries. Methods: Systematic literature, between the years 2009 to 2019, in the electronic databases Pubmed, Bireme and PEDro. Results: There was no great conformity in relation to the techniques used, but in relation to the analyzed outcomes, with studies on UI in spina bifida being verified. Conclusion: Physical therapy proved to be beneficial for cases of UI in congenital spinal injuries, improving urodynamic parameters and the outcome in the voiding diary. (AU)

Management of pregnancy in a woman with spina bifida: A case report / Philippine Journal of Obstetrics and Gynecology

@#With advancements in corrective surgery for spina bifida since the 1960s, affected women are now reaching adulthood and achieving pregnancies. However, the implications on reproductive health?especially in pregnancy?are rarely studied. We are presenting a case of a woman born with spina bifida who has undergone surgical repair and closure of the defect at 4 years old, as well as surgical management for tethered cord at 13 years old. She lived productively into adulthood, became pregnant and delivered vaginally to a healthy baby despite various obstetrical challenges. In the care for this patient, we faced recurrent urinary tract infections, the risk of preterm delivery and the task of coordinated multidisciplinary care to solve dilemmas in decision making. Through this case report, we were able to share our experience, explore the most recent evidence to support our clinical decisions and hopefully serve as a basis for future clinical practice recommendations.