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1.
Arch. pediatr. Urug ; 93(1): e303, jun. 2022. ilus
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1383641

ABSTRACT

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


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


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


Subject(s)
Humans , Female , Infant, Newborn , Spinal Dysraphism/diagnostic imaging , Lipoma/diagnostic imaging , Neural Tube Defects , Early Diagnosis
2.
Int. braz. j. urol ; 48(1): 31-51, Jan.-Feb. 2022. tab, graf
Article in English | LILACS | ID: biblio-1356283

ABSTRACT

ABSTRACT Introduction: Defective closure of the neural tube affects different systems and generates sequelae, such as neurogenic bladder (NB). Myelomeningocele (MMC) represents the most frequent and most severe cause of NB in children. Damage of the renal parenchyma in children with NB acquired in postnatal stages is preventable given adequate evaluation, follow-up and proactive management. The aim of this document is to update issues on medical management of neurogenic bladder in children. Materials and Methods: Five Pediatric Urologists joined a group of experts and reviewed all important issues on "Spina Bifida, Neurogenic Bladder in Children" and elaborated a draft of the document. All the members of the group focused on the same system of classification of the levels of evidence (GRADE system) in order to assess the literature and the recommendations. During the year 2020 the panel of experts has met virtually to review, discuss and write a consensus document. Results and Discussion: The panel addressed recommendations on up to date choice of diagnosis evaluation and therapies. Clean intermittent catheterization (CIC) should be implemented during the first days of life, and antimuscarinic drugs should be indicated upon results of urodynamic studies. When the patient becomes refractory to first-line therapy, receptor-selective pharmacotherapy is available nowadays, which leads to a reduction in reconstructive procedures, such as augmentation cystoplasty.


Subject(s)
Humans , Child , Urinary Bladder, Neurogenic/therapy , Spinal Dysraphism , Meningomyelocele/complications , Meningomyelocele/therapy , Intermittent Urethral Catheterization , Urodynamics
3.
Rev. bras. ginecol. obstet ; 43(6): 467-473, June 2021. tab, graf
Article in English | LILACS | ID: biblio-1341147

ABSTRACT

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.


Subject(s)
Humans , Female , Adolescent , Adult , Young Adult , Sexual Behavior , Sexual Dysfunction, Physiological/etiology , Spinal Dysraphism/complications , Spinal Dysraphism/psychology , Urinary Incontinence/complications , Cross-Sectional Studies , Surveys and Questionnaires , Contraception Behavior , Fecal Incontinence/complications
4.
Arch. argent. pediatr ; 119(3): e215-e228, Junio 2021. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1223321

ABSTRACT

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


Subject(s)
Humans , Male , Female , Pregnancy , Meningomyelocele/surgery , Fetus/surgery , Prenatal Care , Prenatal Diagnosis , Spinal Dysraphism , Meningomyelocele/diagnostic imaging , Fetal Therapies , Fetoscopy
5.
Article in English | LILACS, SES-SP | ID: biblio-1136752

ABSTRACT

ABSTRACT Objective: To assess the reliability and validity of the Quality of Life Assessment in Spina Bifida (QUALAS), children and teenager's versions (QUALAS C and T, respectively). This is the first self-applicable quality of life assessment tool for patients under 13 years of age, which also addresses the issue of urinary and fecal incontinence. Methods: Two urologists performed the translation of both QUALAS versions. A commission produced a consensus version (Version 2), which was applied as a pilot study to define Version 3. It was then backtranslated into English and compared with the original version for equivalence of concepts. Internal consistency with Cronbach's alpha and the intraclass correlation coefficient (ICC) reproducibility was analyzed after two assessments with an interval from two to four weeks. Convergent and divergent validities between the QUALAS and a generic health-related quality of life questionnaire, the KIDSCREEN-27, were studied through Pearson's correlation. Results: The reliability analysis showed good internal consistency for QUALAS-C (α=0.73) and QUALAS-T (α=0.79) and good reproducibility in both questionnaires (QUALAS-C - ICC=0.86; QUALAS-T - ICC=0.92). For QUALAS-C convergent validity, there was a low correlation between its items (r=0.35). In addition, a low correlation was also found in the divergent validity analysis, when compared to the KIDSCREEN-27 (r≤0.33). Convergent and divergent validities of the QUALAS-T questionnaire had similar results: r=0.46 and r≤0.49, respectively. Conclusions: After the adaptation and validation process, QUALAS-C and QUALAS-T questionnaires showed to be reliable and valid instruments for measuring the health-related quality of life of children and teenagers with spina bifida aged 8 years or older.


RESUMO Objetivo: Avaliar a confiabilidade e a validade do questionário QUALAS (Quality of Life Assessment in Spina Bifida) nas versões para crianças e adolescentes (QUALAS-C e QUALAS-T, respectivamente). Este é o primeiro instrumento autoaplicável de avaliação da qualidade de vida para pacientes menores de 13 anos e que também aborda a questão das incontinências urinária e fecal. Métodos: Dois urologistas realizaram a tradução das duas versões do QUALAS. Uma comissão produziu uma versão de consenso (Versão 2), a qual foi aplicada no estudo piloto para definir a Versão 3. Esta foi retrotraduzida para o inglês e comparada à versão original para equivalência de conceitos. Para verificar a confiabilidade, analisou-se a consistência interna com o alfa de Cronbach e a reprodutibilidade com o coeficiente de correlação intraclasse (CCI) após duas aplicações do questionário em intervalo de duas a quatro semanas. As validades convergente e divergente foram estudadas por meio da correlação de Pearson entre o QUALAS e um questionário genérico de qualidade de vida relacionada à saúde, o KIDSCREEN-27. Resultados: A análise de confiabilidade revelou que ambos os questionários apresentaram boa consistência interna (QUALAS-C - α=0,73; QUALAS-T - α=0,79) e boa reprodutibilidade (QUALAS-C - CCI=0,86; QUALAS-T - CCI=0,92). Na análise da validade convergente do QUALAS-C, observou-se baixa correlação entre os itens (r=0,35). Além disso, a análise da validade divergente também demonstrou baixa correlação quando comparada ao KIDSCREEN-27 (r≤0,33). As validades convergente e divergente do questionário QUALAS-T tiveram resultados semelhantes: r=0,46 e r≤0,49, respectivamente. Conclusões: Após o processo de adaptação e validação, pode-se afirmar que os questionários QUALAS-C e QUALAS-T são instrumentos confiáveis e válidos para a mensuração da qualidade de vida relacionada à saúde de crianças e adolescentes com espinha bífida a partir dos 8 anos de idade.


Subject(s)
Humans , Male , Female , Child , Adolescent , Quality of Life , Surveys and Questionnaires/standards , Spinal Dysraphism/psychology , Translations , Urinary Incontinence/etiology , Urinary Incontinence/psychology , Brazil , Reproducibility of Results , Spinal Dysraphism/complications , Fecal Incontinence/etiology , Fecal Incontinence/psychology
6.
Rev. méd. hondur ; 89(1, supl): 35-38, 2021.
Article in Spanish | LILACS | ID: biblio-1281194

ABSTRACT

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


Subject(s)
Humans , Pregnancy , Meningomyelocele/diagnosis , Neural Tube Defects/complications , Congenital Abnormalities , Spinal Dysraphism
7.
Rev. argent. neurocir ; 34(4): 323-331, dic. 2020. ilus, tab
Article in Spanish | LILACS, BINACIS | ID: biblio-1150446

ABSTRACT

Introducción: El proceso de transición de un paciente de la etapa pediátrica a la adulta es un proceso dinámico, complejo y planificado, que incluye la transferencia propiamente dicha de una institución pediátrica a una adulta. El aumento de la sobrevida de niños y adolescentes con patologías crónicas, la falta de acuerdos formales entre instituciones de salud y la falta de enfoque multidisciplinario de estos casos son los principales problemas a tener en cuenta. El objetivo del presente trabajo es describir y proponer una respuesta a las situaciones y dificultades que se encuentran en la actualidad en la salud pública durante el proceso de transición de pacientes pediátricos con patología neuroquirúrgica crónica y de pacientes adultos con patología congénita. Para tal fin se deben considerar factores sociales, económicos y comunicacionales. Material y Método: Estudio observacional, transversal y retrospectivo de pacientes con patología neuroquirúrgica transicional desde el 01 de enero de 2017 al 31 de diciembre de 2018. En total se revisaron las historias clínicas de 47 pacientes del Hospital "El Cruce". Resultados: De los 47 pacientes observados, con un rango etario entre 17 y 42 años, realizamos una división de éstos en 2 grupos: GRUPO 1: pacientes adultos operados en la edad pediátrica que requieren un seguimiento crónico de su patología de origen; y GRUPO 2: pacientes adultos con patología congénita. En el GRUPO 1, observamos 38 pacientes (24 masculinos y 14 femeninos) de los cuales 24 fueron operados y 14 no operados (solo seguimiento clínico). Dentro de este grupo, el 63% de los pacientes (n=29) presentó como su patología de base para su seguimiento la hidrocefalia. En el GRUPO 2, observamos a 9 pacientes (2 masculinos y 7 femeninos) de los cuales 7 fueron operados y 2 no operados. Todos los pacientes de este último grupo presentaron como diagnóstico de base un disrafismo espinal. Conclusión: Se debe lograr una transición planificada para el bienestar de los jóvenes con necesidades especiales de atención de salud. Actualmente no hay acuerdos interinstitucionales formales para el seguimiento y atención de estos pacientes.Consideramos que existe un grupo de pacientes que se beneficiarían con la creación de una nueva subespecialidad neuroquirúrgica: la neurocirugía transicional. La misma debería desarrollarse en hospitales generales, de alta complejidad, donde coincidan en el servicio de neurocirugía de adultos, neurocirujanos con formación pediátrica


Introduction: The transition process of a patient from pediatric to adult stage is a dynamic, complex, and planned process which, strictly speaking, includes the transfer from a pediatric to an adult institution. The increased rate of survival of children and adolescents with chronic pathologies, lack of formal agreements between health institutions and lack of multidisciplinary approach to these cases are the main issues to consider. The purpose of this paper is to describe and provide a response to situations and difficulties that currently exist in the public health during the transition process of pediatric patients with chronic neurosurgical pathology and adult patients with congenital pathology. For this purpose, communication, social, and economic factors must be considered. Methods: Observational, cross-sectional, and retrospective study of patients with transitional neurosurgical pathology from January 1, 2017, to December 31, 2018. In total, 47 patient's medical records were reviewed from "El Cruce" Hospital. Results: A total of 47 patients, with an age range between 17 and 42 years, were observed. We divided our study population into 2 groups: GROUP 1: adult patients who have been operated in pediatric age and require chronic follow-up of their origin pathology; and GROUP 2: adult patients with congenital pathology. In GROUP 1, we observed 38 patients (24 male and 14 female) of whom 24 were performed neurosurgery, and 14 were not. Within this group, 63% of the patients (n = 29) presented hydrocephalus as their basic pathology for monitoring. In GROUP 2, we observed 9 patients (2 male and 7 female) of whom 7 were operated and 2 were not. All patients in this last group presented spinal dysraphism as their basic diagnosis. Conclusion: A planned transition for the well-being of young patients with special health care needs must be achieved. Currently, there are no formal institutional agreements for the monitoring and care of these patients. We believe that there is a group of patients who would benefit from the creation of a new neurosurgical sub-specialty: transitional neurosurgery. It should be developed in high complexity general hospitals, where neurosurgeons with pediatric training could be part of a general neurosurgery department.


Subject(s)
Humans , Neurosurgery , Spinal Dysraphism , Hydrocephalus
8.
Fisioter. Bras ; 21(3): 322-333, Ago 31, 2020.
Article in Portuguese | LILACS | ID: biblio-1283128

ABSTRACT

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)


Subject(s)
Humans , Urinary Incontinence , Spinal Dysraphism , Physical Therapy Modalities , Meningomyelocele , Meningocele
10.
Article in English | WPRIM | ID: wpr-876631

ABSTRACT

@#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.


Subject(s)
Pregnancy , Female , Spinal Dysraphism
11.
Article in English | AIM | ID: biblio-1270383

ABSTRACT

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


Subject(s)
Infant, Newborn , Neural Tube Defects , Neurosurgical Procedures/complications , Neurosurgical Procedures/epidemiology , Neurosurgical Procedures/methods , South Africa , Spinal Dysraphism
12.
Rev. Soc. Bras. Clín. Méd ; 17(4): 171-173, dez 2019.
Article in Portuguese | LILACS | ID: biblio-1284222

ABSTRACT

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


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


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Spinal Dysraphism/mortality , Infant , Congenital Abnormalities , Brazil/epidemiology , Infant Mortality , Indicators of Morbidity and Mortality , Meningomyelocele/mortality , Neural Tube Defects
14.
Article in Korean | WPRIM | ID: wpr-759711

ABSTRACT

Infantile hemangioma (IH) usually presents solely as a cutaneous manifestation, and rarely accompanies diverse anomalies such as spinal dysraphism. A 2-month-old girl presented with IH on her lumbar skin as a coin-sized red plaque with adjacent depressed skin and a child-palm-sized red plaque on her left ankle since birth. Considering the coexistence of IH and depressed skin on the midline in her lumbosacral area, magnetic resonance imaging of her spine was performed, which showed intraspinal/dermal vascular tumors with spina bifida occulta at the 12th thoracic vertebrae level. Furthermore, no neurologic deficits were observed. She has been taking oral propranolol with topical timolol to prevent neural complications and the lesions clinically improved. However, additional surgery for the intraspinal lesions was considered due to urination/defecation abnormalities since she was 13 months of age. In cases of midline IH, particularly with additional skin lesions, appropriate imaging studies to identify accompanying anomalies should be performed, and referrals to neurosurgical specialists should be considered.


Subject(s)
Ankle , Female , Hemangioma , Humans , Infant , Magnetic Resonance Imaging , Neurologic Manifestations , Parturition , Propranolol , Referral and Consultation , Skin , Specialization , Spina Bifida Occulta , Spinal Dysraphism , Spine , Thoracic Vertebrae , Timolol
15.
S. Afr. med. j. (Online) ; 109(9): 698-703, 2019. ilus
Article in English | AIM | ID: biblio-1271252

ABSTRACT

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


Subject(s)
Neural Tube Defects , Organization and Administration , Spinal Dysraphism
16.
Arq. bras. neurocir ; 37(2): 140-144, 24/07/2018.
Article in English | LILACS | ID: biblio-912275

ABSTRACT

Introduction: Inclusion cysts of the spinal cord are rarely intramedullary. Such cysts are commonly located in the lumbar and thoracic regions and are usually associated with congenital spinal dysraphism and dermal sinus. Intramedullary dermoid cysts in the cervical region without spinal dysraphism are extremely rare. To our knowledge, only seven such cases are reported in the literature to date. Materials and Methods: An 18-year-old female patient presented with weakness in all four limbs, more distal than proximal muscle weakness, that had been progressing for 3 years. The magnetic resonance imaging (MRI) showed an intramedullary lesion from C5­ C7 with peripheral ring enhancement. "Whorls" were observed within the lesion on T2 weighted image, with associated excavation of vertebral bodies C5­ C7. Operative procedure and findings: partial laminectomy of C5­ D1was performed. The dura was opened. A small myelotomy was made in the root entry zone. About 1.5 ml of yellowish colored fluid was drained. White shiny debris with hair, whitish pultaceous content and teeth were removed. Complete excision of cyst and its wall was performed. Results The histopathological examination revealed that the cyst wall was lined by stratified squamous epithelium with underlying dermis showing hair follicles, sebaceous glands, adipose tissue and cyst filled with keratin debris suggestive of dermoid cyst. Conclusion: The intramedullary location of the dermoid cyst in the cervical cord and the absence of any congenital spinal dysraphism make this case a very unique and rare entity and warrants its inclusion in the reported cases of rare intramedullary space occupying lesions.


Introdução: Cistos de inclusão da medula espinhal raramente são intramedulares. Tais cistos são comumente localizados nas regiões lombares e torácicas e geralmente estão associados com disrafismo espinhal congênito e sinus dérmico. Cistos dermoides intramedulares na região cervical sem a presença de disrafismo espinhal são extremamente raros. Apenas sete casos foram relatados na literatura até a data do presente estudo. Materiais e Métodos: Uma paciente de 18 anos de idade apresentou fraqueza nos quatro membros, mais distal que proximal, com três anos progressivos de duração. A ressonância magnética apresentou uma lesão intramedular de C5 a C7 com realce do anel periférico. Espirais foram observadas dentro da lesão na imagem ponderada em T2, com escavação dos corpos vertebrais C5­C7. Procedimentos operatórios e achados: realização de laminectomia parcial de C5 a D1. A dura cervical foi aberta. Uma pequena mielotomia foi feita na zona de entrada da raiz. Cerca de 1,5 ml de fluído amarelado foi extraído. Detritos brancos brilhantes com cabelo, polpa esbranquiçada e dentes foram removidos. Foi realizada a excisão completa do cisto com parede de cisto. Resultados O exame histopatológico revelou que a parede do cisto estava alinhada por epitélio escamoso estratificado com derme subjacente apresentando folículos capilares, glândulas sebáceas, tecido adiposo e cisto cheio de detritos de creatinina, sugerindo cisto dermoide. Conclusão: A posição intramedular do cisto dermoide no cordão cervical e a ausência de disrafismo espinhal congênito faz deste um caso único, uma entidade rara, e assegura sua inclusão junto aos casos relatados de lesões raras ocupando espaço intramedulares.


Subject(s)
Humans , Female , Adolescent , Dermoid Cyst , Cervical Cord , Spinal Dysraphism , Muscle Weakness
17.
Article in English | WPRIM | ID: wpr-764917

ABSTRACT

Fibrous hamartoma of infancy (FHI) is a rare entity with a benign nature. The typical clinical features are a single, slowly growing, painless mass on the trunk that appears within the first 2 years of life. We report a 13-month-old boy who presented with a plaque on the lower back since 4 months of age. The plaque had gradually become larger and firm, and hyperhidrosis and hypertrichosis were noticed. No visible connection between the spinal cord and the lesion was found in radiologic studies, indicating a disease other than spinal dysraphism. Histopathological findings showed well-defined fibrous trabeculae, mature adipose tissue, and primitive mesenchymal cells, all consistent with FHI. This is the first case of FHI presenting with hyperhidrosis and hypertrichosis reported in Korea.


Subject(s)
Adipose Tissue , Hamartoma , Humans , Hyperhidrosis , Hypertrichosis , Infant , Korea , Male , Spinal Cord , Spinal Dysraphism
18.
Asian Spine Journal ; : 551-555, 2018.
Article in English | WPRIM | ID: wpr-739260

ABSTRACT

STUDY DESIGN: A retrospective cohort study. PURPOSE: To examine the validity of prophylactic surgery for children with tethered cord syndrome (TCS). OVERVIEW OF LITERATURE: Prophylactic surgery for pediatric patients with TCS remains controversial. METHODS: We retrospectively analyzed the surgical outcomes of 14 children (nine boys and five girls) with asymptomatic TCS who were surgically treated at Hokkaido University Hospital between 1989 and 2015. RESULTS: The median age at the time of initial surgery for asymptomatic TCS was 28.6 months (range, 0–66 months). The median final follow-up period was 142 months (range, 7–232 months). Of the 14 children with asymptomatic TCS, 12 had lumbosacral lipoma and two had meningocele. According to the classification of spinal lipoma, two children had dorsal type, four had caudal type, two had transitional type, and four had filar type. There were no children with lipomyelomeningocele. All children were free of neurological symptoms until 94 months after the initial surgery. Subsequently, one child exhibited delayed neurological deficits and underwent a second surgery because of motor and sensory disturbances; slight sensory disturbance was noted at the final follow-up examination. Another child later showed bowel and bladder dysfunction. However, a second surgery was not performed for this child because his motor and sensory functions were normal; hence, we chose to avoid nerve injury in the case of dissecting adhesion. CONCLUSIONS: All 14 children with asymptomatic TCS were free of neurological symptoms until 94 months after the initial surgery. However, two children exhibited delayed neurological deficits at 94 months and 177 months. We believe that prophylactic surgery for asymptomatic TCS is effective for a certain period. However, because the natural history of TCS is poorly understood, strict follow-up after surgery is necessary.


Subject(s)
Child , Classification , Cohort Studies , Follow-Up Studies , Humans , Lipoma , Meningocele , Natural History , Neural Tube Defects , Retrospective Studies , Sensation , Spinal Dysraphism , Urinary Bladder
19.
Asian Spine Journal ; : 569-573, 2018.
Article in English | WPRIM | ID: wpr-739257

ABSTRACT

The stenosing foramen of L5–S1 by several degenerative diseases is one of the challenging areas on surgical approaching because of the deeper depth and steep slope in the lumbosacral junction. The floating view using unilateral biportal endoscopic spine surgery rather than docking into the Kambin’s zone can make the foraminal structures seen panoramically and permit dynamic handling of various instruments without destroying the facet joint and causing iatrogenic instability. Fine discrimination of structural margins in helps of the higher magnification and gentle manipulation of neural structures just as in open spine surgery could be guaranteed using floating technique from the target structures. Selective decompression with preserving innocent structures including facet joints could relieve foraminal lesions at the L5–S1 and decrease the necessity of fusion surgery caused by wider decompression and iatrogenic instability.


Subject(s)
Decompression , Discrimination, Psychological , Endoscopy , Lumbosacral Region , Minimally Invasive Surgical Procedures , Spinal Dysraphism , Spinal Stenosis , Spine , Zygapophyseal Joint
20.
Buenos Aires; s.n; 2018. 50 p. graf..
Non-conventional in Spanish | LILACS | ID: biblio-1009917

ABSTRACT

Ateneo de los residentes de Psicopedagogía del Hospital de Niños Dr Ricardo Gutiérrez, de la Ciudad de Buenos Aires, donde a partir de la práctica psicopedagógica con niños y adolescentes con patología orgánica se desarrollan cuatro ejes temáticos para describir algunas de las patologías o condiciones con las cuales se han ido encontrando en su labor cotidiana. Se relatan algunas viñetas clínicas que surgen de la experiencia en el Consultorio Interdisciplinario de Espina Bífida, con el fin de reflejar la intervención y los aportes de la psicopedagogía en ese campo. Se presenta el caso de una paciente que presentó un cuadro de Encefalitis Autoinmune por anticuerpos contra el receptor NMDAR, patología que despertó un gran interés al interior del equipo y que debido a su creciente recurrencia en los últimos tiempos, convoca a ampliar el conocimiento en ese campo, que aún se encuentra poco investigado. A continuación, se caracterizan dos patologías genéticas a través de casos de Agustín y Matías, considerando la importante incidencia de diversas condiciones genéticas en la población con la cual trabajamos. A partir de los casos clínicos seleccionados, no solo perseguimos el fin de describir y caracterizar algunos cuadros específicos, sino que a través de los mismos buscaremos plasmar los pilares fundamentales sobre los cuales asentamos nuestra mirada e intervención frente a pacientes que exigen un abordaje complejo, integral e interdisciplinario.


Subject(s)
Congenital Abnormalities/psychology , Congenital Abnormalities/rehabilitation , Congenital Abnormalities/therapy , Spinal Dysraphism/therapy , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/therapy , Mandibulofacial Dysostosis/therapy , Noonan Syndrome/therapy , Ambulatory Care Facilities , Internship, Nonmedical
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