Dynamic and static ultrasound features predictive of vesicoureteral reflux and renal damage in children and adolescents with neurogenic bladder

ABSTRACT Purpose: This study aimed to analyze the diagnostic accuracy of dynamic and static ultrasound (DSUS) in detecting vesicoureteral reflux (VUR) and renal scarring in a cohort of children with neurogenic bladder (NB). Materials and Methods: A retrospective, longitudinal, observational study was conducted using the Reporting Diagnostic Accuracy Studies guideline. The DSUS (index test) data were compared with voiding cystourethrography (VCUG) and renal scintigraphy 99mTc-dimercaptosuccinic (reference tests). Overall performance for predicting VUR and renal scarring was assessed using renal pelvic diameter (RPD)/distal ureteral diameter and renal parenchymal thinning on DSUS, respectively. Results: A total of 107 patients (66 girls, median age 9.6 years) participated. Seventeen patients (15.9%) presented VUR, eight bilateral. For overall reflux grade, the AUC was 0.624 for RPD and 0.630 for distal ureteral diameter. The diagnostic performance for detecting high-grade VUR was slightly better for DSUS parameters. The AUC was 0.666 for RPD and 0.691 for distal ureteral diameter. The cut-offs of 5 mm for RPD and 6.5 mm for distal ureteral diameter presented the best diagnostic odds ratio (DOR) to identify high-grade VUR. The increase of RPD during detrusor contractions showed an accuracy of 89.2%. The thinness of renal parenchyma presented an accuracy of 88% for renal scarring. Conclusion: DSUS predicts VUR and renal scarring in children with NB with fair to good accuracy, and all measurements exhibited a high negative predictive value (NPV). The increase in RPD during voiding or detrusor contractions proved to be the most accurate parameter for indicating the presence of VUR in this study.

Diagnóstico y tratamiento de pacientes con vejiga neurogénica en la Unidad Técnica de Cirugía Pediátrica / Diagnosis and treatment of patients with Neurogenic bladder in the Surgery Technical Unit Pediatric

El presente trabajo toma como base el documento: "Manejo Urológico del Mielomeningocele" de las Guías de Atención Pediátrica, del Hospital De Pediatría "Juan P. Garrahan" de la ciudad de Buenos Aires - Argentina; de los autores: Dra. Carol Burek y Dra. Liliana Campmany. En la Unidad Técnica de Cirugía Pediátrica del Hospital de Especialidades Carlos Andrade Marín, se atienden por mes unos 50 a 70 pacientes afectos de vejiga neurogénica desde el nacimiento hasta la adolescencia. Es una enfermedad crónica que requiere un diagnóstico correcto con estudios de imagen y función de la vía urinaria además de un posterior manejo diario por parte de los padres con la guía del médico especialista.

This work is based on the document: "Urological Management of Myelomeningocele" from the Pediatric Care Guidelines of the Hospital De Pediatría "Juan P. Garrahan" of the city of Buenos Aires - Argentina; by the authors: Dr. Carol Burek and Dr. Liliana Campmany. In the Pediatric Surgery Technical Unit of the Carlos Andrade Marín Specialties Hospital, 50 to 70 patients affected by neurogenic bladder from birth to adolescence are treated every month. It is a chronic disease that requires a correct diagnosis with imaging and urinary tract function studies, as well as subsequent daily management by the parents under the guidance of the specialist.

Management of Intra-Uterine Growth Restriction by Ayurvedic Regime: A Case Report

Maternal nutrition and congenital malformation are considered as very important factors for intra uterine growth restriction. Present case deals with these two factors in parallel way. A 32 years young lady second gravida, G2P0A1, housewife, residence of Jaipur, came to NIA OPD with complaint of amenorrhea since a month. According to patient her last menstrual period was on 3/3/20. Her antenatal care was continued in NIA OPD. First fetal wellbeing scan reveals mild ventriculomegaly so she was advised for second level scan and quadruple marker but due to low socioeconomic condition patient was not able to do second level anomaly scan and she continued her pregnancy on her own risk. After 7 months she came to us with the complaints of decreased fetal movements. Fundal height corresponding to period of gestation and fetal heart sound was present which was regular. A color doppler was advised which shows normal fetoplacental and uteroplacental circulation, fetal weight was normal according to period of gestation. On the eighth month the fundal height was found decreased along with maternal weight decreased by 1kg. She was suspected for IUGR and planned for Ksheerbasti. After four episodes Ksheer basti on the 36 weeks of gestation, mother had significant weight gain of 2 kg along with increase in fundal height. USG was done which reveals Single live intra uterine pregnancy of 33 weeks 2 days with lumbar spina bifida with meningomyelocele, CHIARI-II brain malformation, EFW– 2282gm. She delivered a live female child of 2300gm through normal vaginal delivery at maternity hospital. Child was having severe form of myelomeningocele with brain malformation.

In utero myelomeningocele repair and high-risk bladder pattern. a prospective study

ABSTRACT Objectives High-risk bladder pattern can be defined by Urodynamic Evaluation (UE) as overactive bladder with detrusor leak point pressure higher than 40 cmH2O and/or higher filling pressures also above 40 cmH2O. We wanted to evaluate response to treatment in myelomeningocele patients operated in utero in this subgroup. Patients and Methods From our prospective cohort of in utero MMC we have identified patients in the high-risk group. Treatment consisted of anticholinergics (Oxybutynin 0.2 mg/Kg) 2 or 3 times daily in association with CIC. At every UE, patients were reclassified in high-risk or low-risk patterns. Patients not responding were proposed bladder reconstruction or diversion according to age. Results Between 2011 to 2020, we have been following 121 patients and 60 (49.6%) of them were initially categorized as high-risk. The initial UE was performed at a mean age of 7.9 months and detrusor overactivity was found in 83.3% (mean maximum pressure of 76.5cmH20). When evaluating patients with 2 or more UE, we identified 44 patients (follow-up: 36.8months). It was observed in the group of patients who underwent 2 to 5 UE, that response to treatment was validated by the finding of 40% of low-risk bladder patterns in the second UE and between 62% to 64% in the third to the fifth UE. The incidence of surgery was 13.3%. Conclusions Early urological treatment of high-risk bladder pattern was effective in approximately 60%. We reinforce the need to correctly treat every patient with myelomeningocele, in accordance with UE, whether undergoing in utero or postnatal treatment.

Diagnóstico, manejo y tratamiento actual del mielomeningocele fetal / Current diagnosis, management and treatment of fetal myelomeningocele

Introducción: El mielomeningocele fetal, es la extrusión de la médula espinal que ocurre por un cierre incompleto del neuróporo caudal, lo cual expone la placa neural al trauma mecáni-co y químico de la pared uterina y líquido amniótico respectivamente, con graves secuelas. La detección prenatal innovó el diagnóstico y con ello la reparación intra útero ha mejora-do estrategias del tratamiento, generando opciones de atención en aquellas pacientes que cumplen con los criterios de selección para cirugía prenatal. Objetivo: Presentar una revisión bibliográfica sobre diagnóstico, manejo y tratamiento del mielomeningocele fetal y ofrecer a la comunidad científica una herramienta de consulta para mejorar los conocimientos del tema y alternativas de tratamiento oportuno para los fetos con esta malformación.Material y Métodos: Se trata de un estudio de revisión sistemática sin metaanálisis, realiza-do en base a las recomendaciones PRISMA. La búsqueda de información se estructuró bajo el sistema PICO. Las búsquedas se realizaron en Pubmed, Tripdatabase y Pubmed Central; seleccionando artículos publicados durante los últimos diez años en inglés o español, sobre diagnóstico, manejo y tratamiento del mielomeningocele fetal. Resultados: 120 artículos cumplieron con criterios de búsqueda, de los cuáles fueron ele-gibles 42, con información relevante para determinar el diagnóstico, manejo y tratamiento actual del mielomeningocele fetal a través de procedimientos innovadores.Discusión: Los defectos del tubo neural aparecen como consecuencia de una alteración del proceso de neurulación entre el día 21-28 después de la concepción. El mielomeningocele fetal es considerado el defecto congénito no letal más común del SNC. Se caracteriza por la protrusión de las meninges y la médula espinal con daño neurológico permanente. Por ello el diagnóstico y manejo oportuno de esta patología, han permitido que la cirugía fetal intra útero se considere el método óptimo, mejorando la hernia del rombencéfalo, reduciendo la necesidad de una derivación ventricular y manteniendo la motricidad inferior, así como la función neuronal, vesical y gastrointestinal, mejorando la calidad de vida del paciente afecto por esta patología

Introduction: Fetal myelomeningocele is spinal cord extrusion that occurs due to the caudal neuropore incomplete closure, which exposes the neural plate to mechanical and chemical trauma to the uterus wall and amniotic fluid respectively, with serious sequelae. Prenatal detection innovated the diagnosis and with this intra-uterine repair has improved treatment strategies, generating care options in those patients who comply the selection criteria for prenatal surgery.Objective: Submit a bibliographic review on the diagnosis, management and treatment of fetal myelomeningocele and to offer the scientific community a consultation tool to improve knowledge of the subject and timely treatment alternatives for fetuses with this malformation.Materials and Methods: This is a systematic review study without meta-analysis, based on the PRISMA recommendations. The information search was structured under the PICO sys-tem. The searches were carried out in Pubmed, Tripdatabase and Pubmed Central; selecting articles published during the last ten years in English or Spanish, on diagnosis, management and treatment of fetal myelomeningocele.Results: 120 articles met the search criteria, of which 42 were eligible, with relevant informa-tion for determining the current diagnosis, management and treatment of fetal myelomenin-gocele through innovative procedures.Discussion: Neural tube defects appear as a consequence of an alteration of the neurula-tion process between days 21-28 after conception. MMCf is considered the most common non-fatal congenital defect of the CNS. It is characterized by protrusion of the meninges and spinal cord with permanent neurological damage. For this reason, the diagnosis and timely management of this pathology have allowed intra utero fetal surgery to be considered the optimal method, improving rhombencephalon hernia, reducing the need for a ventricular shunt and maintaining the lower motor skills, as well as neuronal, bladder and gastrointestinal function, improving the quality of life of the patient affected by this pathology.

Can a Neonate Shiver ? — A perioperative Diagnostic Dilemma and a Short Literature Review

Background: Neonates often show involuntary movements peri-operatively which are difficult to diagnose. Neonatal Shivering albeit very rare, may confuse the anaesthesiologist by presenting as Seizures. Case : A Neonate was scheduled for the repair of Lumbar Meningomyelocele in our Operating Room. At the end of an uneventful Surgery, we noticed jittery movements during recovery from Anaesthesia. Differentiating these movements from Neonatal Shivering, Motor Automatisms and Physiological New-born Behaviour was a challenge. The immediate venous blood gas analysis was within normal limits and no apparent cause could be found. Suspecting accidental Hypothermia, Immediate rewarming was initiated and after Consulting Paediatric Neurology intravenous Levetiracetam was given. There were no further similar episodes. Conclusion : Shivering-like episodes in Neonates during the peri-operative period need to be carefully evaluated to allay parental anxiety, avoid inappropriate treatment and prevent any further complications

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.

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

Comparison between two methods of measuring pelvic obliquity in cerebral palsy and myelomeningocele / Comparação entre dois métodos de medida de obliquidade pélvica em paralisia cerebral e mielomeningocele / Comparación entre dos métodos de medición de la oblicuidad pélvica en parálisis cerebral y mielomeningocele

ABSTRACT Objective: To evaluate the intra- and inter-observer reproducibility of the evaluation of the pelvic obliquity (PO) in patients with neuro-muscular deformities via the method that uses the iliac crests and the method that uses the upper endplate of S1 and to determine whe ther there is a relationship between the methods. Methods: The digitized panoramic radiographies of thirty patients with cerebral paralysis or myelomeningocelein outpatient monitoring were evaluated by four examiners: two experienced spinal surgeons and two fellows. Two radiographs were excluded because analysis was impossible. All exams were obtained in accordance with the periodic monitoring protocol in the sitting position, using digitized film and a film-focus distance of 110 cm Results: High intra- and inter-observer agreement was observed both for method that uses the iliac crests and the method that evaluates the S1 endplate. However, no significant relationship between the two methods was observed. Conclusions: The methods evaluated had good reproducibility and agreement among the observers. It was confirmed that, on account of the existent linear relation, it is possible to estimate the value of the iliac crest method knowing the value obtained by the S1 plateau multiplied by 0.76. There was no agreement between the iliac crest and S1 plateau PO evaluation methods. Level of evidence IV; Retrospective cross-sectional study.

RESUMO Objetivo: Estimar a reprodutibilidade intra e interobservadores da avaliação da obliquidade pélvica (OP) nos pacientes com deformidades neuromusculares pelo método que usa as cristas ilíacas e pelo método que usa o platô superior de S1e avaliar se há relação entre os métodos. Métodos: Trinta radiografias panorâmicas digitalizadas de pacientes com paralisia cerebral e mielomeningocele acompanhados em ambulatório foram avaliadas por quatro examinadores, sendo dois cirurgiões de coluna experientes e doisfellows. Foram excluídas duas radiografias que impossibilitavam a análise. Todos os exames foram obtidos conforme protocolo de acompanhamento periódico, na posição sentada, em filme digitalizado e distância foco-filme de 110 cm. Resultados: Observou-se alta concordância intra e interobservadores tanto do método que usa as cristas ilíacas quanto do método que avalia o platô de S1. No entanto, não foi observada relação significativa entre os dois métodos. Conclusões: Os métodos avaliados apresentam boa reprodutibilidade e concordância entre os observadores. Verificou-se que, por conta da relação linear existente, é possível estimar o valor do método das cristas ilíacas conhecendo o valor obtido pelo método do platô de S1 multiplicado por 0,76. Não houve concordância entre o método de avaliação da OP pelas cristas ilíacas em comparação com o método de avaliação pelo platô de S1. Nível de evidência IV; Estudo transversal retrospectivo.

RESUMEN Objetivo: Estimar la reproducibilidad intra e interobservador de la evaluación de la oblicuidad pélvica (OP) en pacientes con deformidades neuromusculares por el método que utiliza las crestas ilíacas y por el método que utiliza la meseta superior de S1 y evaluar si existe una relación entre los métodos. Métodos: Treinta radiografías panorámicas digitales de pacientes con parálisis cerebral y mielomeningocele acompañadosen clínica ambulatoria fueron evaluados por cuatro examinadores, dos cirujanosde columna de vasta experiencia y dos fellows. Se excluyeron dos radiografías porque imposibilitaban el análisis. Todos los exámenes se obtuvieron según el protocolo de acompañamiento periódico, en posición sentada, sobre película digitalizada y distancia foco-película de 110 cm. Resultados: Se observó una alta concordancia intra e interobservador tanto en el método que utiliza las crestas ilíacas como en el que evalúa la meseta de S1. Sin embargo no se observó ninguna relación significativa entre los dos métodos. Conclusiones: Los métodos evaluados presentaron buena reproducibilidad y concordancia entre los observadores. Se observó que, debido a la relación lineal existente, es posible estimar el valor del método de las crestas ilíacas conociendo el valor obtenido por el método demeseta de S1 multiplicado por 0,76. No hubo concordancia entre el método de evaluación de la OP por las crestas ilíacas en comparación conel método de evaluación por meseta de S1. Nivel de evidencia IV; Estudio transversal retrospectivo.

Síndrome lumbocostovertebral. Reporte de un caso / Lumbocostovertebral syndrome. A case report

Introducción. El síndrome lumbocostovertebral es una anomalía poco frecuente, que afecta a los cuerpos vertebrales, las costillas y músculos de la pared abdominal, y puede estar asociada a múltiples anomalías congénitas. Requiere un manejo multidisciplinario y tratamiento quirúrgico temprano para evitar complicaciones. Caso clínico. Se reporta el caso de un neonato masculino de 10 días de edad, que presentó desde el nacimiento 2 tumoraciones lumbares derechas, una que aumentaba de tamaño con el llanto, correspondió a una hernia lumbar, y la otra, a mielomeningocele. En estudios complementarios se evidenció fusión de costillas, fusión de cuerpos vertebrales lumbares, sacros (hemivértebras) y defecto de pared abdominal con protrusión de contenido intestinal. Se realizó cierre de la hernia lumbar con refuerzo protésico de pericardio bovino, sin complicaciones. Conclusión. En defectos extensos, como el que se reporta en este paciente, puede ser recomendable emplear material protésico. El pericardio bovino aparece como una opción segura, bien tolerada y eficaz para estos pacientes en particular. Este síndrome es una entidad rara, que amerita un equipo multidisciplinario para la resolución quirúrgica temprana y con ello evitar complicaciones.

Introduction. Lumbocostovertebral syndrome is a rare anomaly that affects the vertebral bodies, ribs and muscles of the abdominal wall, and can be associated with multiple congenital abnormalities. It requires multidisciplinary management and early surgical treatment to avoid complications. Clinical case. The case of a 10-day-old male neonate is reported, who presented from birth 2 right lumbar tumors, one that increased in size with crying, corresponded to a lumbar hernia, and the other, to myelomeningocele. In complementary studies, rib fusion, fusion of lumbar and sacral vertebral bodies (hemivertebrae), and abdominal wall defect with protrusion of intestinal contents were evidenced. The lumbar hernia was closed with prosthetic reinforcement with a bovine pericardium, without complications. Conclusion. In extensive defects, such as the one reported in this patient, it may be advisable to use prosthetic material. The bovine pericardium appears as a safe, well tolerated and effective option for these patients in particular. This syndrome is a rare entity, which requires a multidisciplinary team for early surgical resolution and thus avoid complications.

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

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

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

Seeking tirelessly for better health and life conditions for the child with myelomeningocele / Buscando incansavelmente por melhores condições de saúde e vida para o filho com mielomeningocele / Buscando sin cesar mejores condiciones de salud y de vida para el niño con mielomeningocele

Objective: to understand the experience of families in the care of children with myelomeningocele. Method: a qualitative research study, which adopted Symbolic Interactionism and Grounded Theory as its theoretical and methodological framework, and the semi-structured interview as a data collection instrument. Twenty-eight participants from thirteen families living in a municipality in the inland of São Paulo took part in the study. Results: the family tirelessly seeks better health and life conditions for the child with myelomeningocele; aiming at the child's autonomy, it is mobilized to the necessary treatments, to learn the care, to adapt the routine, as well as to supply for all the child's needs so that it reaches potential development, looking for a less dependent future with inclusion and social ascension. Conclusion: family nursing shows potential support in the face of myelomeningocele, due to its ability to apprehend the family system, evaluate it and enable intervention proposals in the care process. In this study, rehabilitation nursing was also emphasized, since it goes together with the child and the family who experience myelomeningocele.

Objetivo: compreender a experiência de famílias no cuidado de crianças com mielomeningocele. Método: pesquisa qualitativa, que adotou como referencial teórico e metodológico o Interacionismo Simbólico e a Teoria Fundamentada nos Dados, e a entrevista semiestruturada como instrumento de coleta de dados. Vinte e oito participantes de treze famílias residentes em um município do interior paulista integraram o estudo. Resultados: a família busca incansavelmente por melhores condições de saúde e vida para o filho com mielomeningocele; objetivando a autonomia da criança, se mobiliza aos tratamentos necessários, a aprender os cuidados, a adaptar a rotina, assim como suprir por todas as necessidades da criança a fim de que esta alcance desenvolvimento potencial, prospectando um futuro menos dependente com inclusão e ascensão social. Conclusão: a enfermagem familiar mostra-se apoio potencial frente à condição da mielomeningocele, devido à sua capacidade de apreender o sistema familiar, avaliá-lo e possibilitar proposições de intervenção no processo de cuidado. Neste estudo enfatizou-se também a enfermagem de reabilitação, uma vez que esta caminha conjuntamente à criança e à família que experienciam a mielomeningocele.

Objetivo: comprender la experiencia de las familias en el cuidado de niños con mielomeningocele. Método: investigación cualitativa, que adoptó el Interaccionismo Simbólico y la Teoría Fundamentada como marco teórico y metodológico, y la entrevista semiestructurada como instrumento de recolección de datos. Participaron del estudio 28 participantes de trece familias residentes en una ciudad del interior de São Paulo. Resultados: la familia busca sin cesar mejores condiciones de vida y salud para el niño con mielomeningocele; con el objetivo de estimular la autonomía del niño, se realizan los tratamientos necesarios, se aprenden los cuidados, se adecua la rutina y se satisfacen todas las necesidades del niño para que alcance su desarrollo potencial, proyectando un futuro menos dependiente con inclusión y ascensión social. Conclusión: la enfermería familiar muestra un potencial apoyo frente a la condición de mielomeningocele, debido a su capacidad para aprehender el sistema familiar, evaluarlo y posibilitar propuestas de intervención en el proceso de atención. En este estudio también se enfatizó la enfermería de rehabilitación, ya que va de la mano del niño y la familia que padecen mielomeningocele.

Seeking tirelessly for better health and life conditions for the child with myelomeningocele / Buscando incansavelmente por melhores condições de saúde e vida para o filho com mielomeningocele / Buscando sin cesar mejores condiciones de salud y de vida para el niño con mielomeningocele

Objective: to understand the experience of families in the care of children with myelomeningocele. Method: a qualitative research study, which adopted Symbolic Interactionism and Grounded Theory as its theoretical and methodological framework, and the semi-structured interview as a data collection instrument. Twenty-eight participants from thirteen families living in a municipality in the inland of São Paulo took part in the study. Results: the family tirelessly seeks better health and life conditions for the child with myelomeningocele; aiming at the child's autonomy, it is mobilized to the necessary treatments, to learn the care, to adapt the routine, as well as to supply for all the child's needs so that it reaches potential development, looking for a less dependent future with inclusion and social ascension. Conclusion: family nursing shows potential support in the face of myelomeningocele, due to its ability to apprehend the family system, evaluate it and enable intervention proposals in the care process. In this study, rehabilitation nursing was also emphasized, since it goes together with the child and the family who experience myelomeningocele.

Objetivo: compreender a experiência de famílias no cuidado de crianças com mielomeningocele. Método: pesquisa qualitativa, que adotou como referencial teórico e metodológico o Interacionismo Simbólico e a Teoria Fundamentada nos Dados, e a entrevista semiestruturada como instrumento de coleta de dados. Vinte e oito participantes de treze famílias residentes em um município do interior paulista integraram o estudo. Resultados: a família busca incansavelmente por melhores condições de saúde e vida para o filho com mielomeningocele; objetivando a autonomia da criança, se mobiliza aos tratamentos necessários, a aprender os cuidados, a adaptar a rotina, assim como suprir por todas as necessidades da criança a fim de que esta alcance desenvolvimento potencial, prospectando um futuro menos dependente com inclusão e ascensão social. Conclusão: a enfermagem familiar mostra-se apoio potencial frente à condição da mielomeningocele, devido à sua capacidade de apreender o sistema familiar, avaliá-lo e possibilitar proposições de intervenção no processo de cuidado. Neste estudo enfatizou-se também a enfermagem de reabilitação, uma vez que esta caminha conjuntamente à criança e à família que experienciam a mielomeningocele.

Objetivo: comprender la experiencia de las familias en el cuidado de niños con mielomeningocele. Método: investigación cualitativa, que adoptó el Interaccionismo Simbólico y la Teoría Fundamentada como marco teórico y metodológico, y la entrevista semiestructurada como instrumento de recolección de datos. Participaron del estudio 28 participantes de trece familias residentes en una ciudad del interior de São Paulo. Resultados: la familia busca sin cesar mejores condiciones de vida y salud para el niño con mielomeningocele; con el objetivo de estimular la autonomía del niño, se realizan los tratamientos necesarios, se aprenden los cuidados, se adecua la rutina y se satisfacen todas las necesidades del niño para que alcance su desarrollo potencial, proyectando un futuro menos dependiente con inclusión y ascensión social. Conclusión: la enfermería familiar muestra un potencial apoyo frente a la condición de mielomeningocele, debido a su capacidad para aprehender el sistema familiar, evaluarlo y posibilitar propuestas de intervención en el proceso de atención. En este estudio también se enfatizó la enfermería de rehabilitación, ya que va de la mano del niño y la familia que padecen mielomeningocele.

Qualidade de vida e desafios de familiares de crianças com mielomeningocele / Quality of life and challenges of family members of children with meningomyelocele

RESUMO Objetivo: identificar os principais desafios da família de uma criança com Mielomeningocele (MMC) e correlacionar a escala de Zarit Burden Interview (ZBI) com o WHOQOL-BREF. Métodos: Foram enviados questionários via plataforma on-line para grupos de pais e cuidadores de crianças com MMC. Quatro dimensões foram avaliadas: física; psicológica; relações sociais; e meio ambiente do WHOQOL-BREF. Resultados: Todas as correlações entre os domínios do questionário WHOQOL-BREF com a escala de Zarit Burden Interview (ZBI) foram negativas e significativas com maior magnitude de valor para ZBI × domínio psicológico com − 57,4% de correlação (p < 0,001). Conclusão: Os resultados desse estudo sugerem que a qualidade de vida das mães e cuidadores de crianças com MMC é afetada em relação a capacidade funcional, aspecto emocional e saúde mental. Apesar disso, apresentam uma visão positiva de sua vida. As dificuldades mais encontradas pelos cuidadores foram: realizar o cateterismo vesical; prestar cuidados gerais; financeira; sobrecarga de trabalho; e acessibilidade. Nível de Evidência V, Opinião do especialista.

ABSTRACT Objective: To identify the main challenges of the family of a child with meningomyelocele (MMC) and correlate the Zarit Burden Interview (ZBI) scale with the World Health Organization Quality of Life-BREF (WHOQOL - BREF). Methods: Questionnaires were sent through an online platform to groups of parents and caregivers of children with MMC. Four WHOQOL-BREF domains were evaluated: physical, psychological, social and environmental. Results: All correlations among the domains of the WHOQOL-BREF questionnaire with the Zarit Burden Interview (ZBI) scale were negative and significant with a higher magnitude value for ZBI × psychological domain with − 57.4% correlation (p < 0.001). Conclusion: The results of this study suggest the quality of life of mothers and caregivers of children with meningomyelocele is affected regarding functional capacity, emotional aspect, and mental health. Despite this, the participants present a positive view of their lives. The most common difficulties faced by caregivers were: performing bladder catheterization, providing general care, financial burden, and accessibility. Level of Evidence V, Expert opinion.

Study of serum and urinary markers of the reninangiotensin-aldosterone system in myelomeningocele patients with renal injury detected by DMSA

ABSTRACT Introduction: The Renin-Angiotensin-Aldosterone System (RAAS) has been suggested as a possible marker of renal injury in chronic diseases. This study proposes to analyze the serum and urinary markers of the RAAS in myelomeningocele patients with renal function abnormalities detected on DMSA. Material and Methods: Seventeen patients followed in our institution that presented with renal injury on DMSA. We review nephrologic and urologic clinical aspects and evaluated ultrassonagraphy, voiding urethrocystography and urodynamics. Urinary and serum samples were collected to evaluate possible correlations of renal lesions with RAAS. Control group urine and serum samples were also sent for analysis. Results: Serum ACE 2 activity means in relation to urodynamic findings were the only values that had a statistically significant difference (p = 0.040). Patients with normal bladder pattern presented higher ACE 2 levels than the high risk group. Statistical analysis showed that the study group (SG) had a significantly higher mean serum ACE than the CG. The means of ACE 2 and urinary ACE of the SG and CG were not statistically different. The ROC curve for serum ACE values had a statistically significant area for case and non-case differentiation, with 100% sensitivity and 53% specificity for values above 60.2 mg/dL. No statistically significant areas were observed in relation to ACE 2 and urinary ACE values between SG and CG. Conclusion: The analysis of serum ACE, ACE 2 and urinary ACE were not significant in patients with myelomeningocele and neurogenic bladder with renal injury previously detected by renal DMSA.

O cotidiano do cuidado no domicílio: a realidade de crianças e adolescentes com mielomeningocele / Home care daily: the reality of children and adolescents with myelomeningocele

Introdução: crianças e adolescentes com mielomeningocele atingem a idade adulta devido ao avanço médico, tecnológico e no tratamento, no entanto, ainda enfrentam repercussões que comprometem seu cotidiano e qualidade de vida. Objetivo: analisar o cotidiano de crianças e adolescentes com mielomeningocele. Metodologia: estudo exploratório, com abordagem qualitativa, utilizando-se o referencial teórico de Agnes Heller, na perspectiva do cotidiano. Para a coleta de dados foram entrevistadas 16 mães e 16 crianças e adolescentes com mielomeningocele entre maio e agosto de 2015, residentes em Belo Horizonte/MG e grande região. Resultados: a falta de recursos financeiros, associada às demandas medicamentosas e de insumos para os cuidados, limitou as possibilidades de socialização e participação de crianças e adolescentes. A infraestrutura inadequada de escolas representou uma barreira para a socialização de alguns dos participantes. O cotidiano foi marcado por restrição social, com limitação das atividades de lazer e realização de cuidados domiciliares não habituais. Conclusão: sugere-se a parceria entre diferentes setores da sociedade no intuito de permitir maior participação social a essa população e a construção de políticas públicas direcionadas.

Introduction: children and adolescents with myelomeningocele reach adulthood due to medical, technological and treatment advances, however, they still face repercussions that compromise their daily lives and quality of life.Objective: to analyze the daily life of children and adolescents with myelomeningocele. Methods: an exploratory study with a qualitative approach, using Agnes Heller's theoretical framework, from the perspective of daily life. For data collection, 16 mothers and 16 children and adolescents with myelomeningocele were interviewed between May and August 2015, living in Belo Horizonte / MG and large region. Results: the lack of financial resources, associated with drug demands and care inputs, limited the possibilities of socialization and participation of children and adolescents. The inadequate infrastructure of schools represented a barrier to the socialization of some of the participants. The daily life was marked by social restriction, with limitation of leisure activities and performing unusual home care. Conclusion: it is suggested the partnership between different sectors of society in order to allow greater social participation to this population and the construction of targeted public policies.

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)

Large Meningomyelocele Defects Reconstruction Using Double Opposing Fasciocutaneous Flaps

When a part of neural tube fails to develop or close properly, it manifests as spina bifida. Spina bifida defects range from the mild form (spina bifida occulta) to severe form (meningomyelocele). Meningomyelocele is to be closed surgically as early as possible to prevent infection and other complications. Many methods are available for treatment of meningomyelocele defects ranging from skin graft to flap cover. Meningomyelocele defects when small in size can be closed primarily. Large meningomyelocele defects poses technical challenge to reconstructive surgeon. Many flap cover techniques were described to cover the large meningomyelocele defects. We wanted to evaluate bilateral opposing fasciocutaneous flaps method for closure of large defects without tension.METHODSTo cover large meningomyelocele defects, fasciocutaneous flaps give good and stable cover, and prevents wear and tear, and infections. We have used double opposing fasciocutaneous flaps method for reconstruction of large meningomyelocele defects. The advantages of this technique are its simplicity and it being a single stage procedure. 20 children with meningomyelocele defects of various sizes were operated with this method and followed for 6 months for wound dehiscence and CSF leak.RESULTSClosure of large meningomyelocele defects is made possible with simple and easy technique. Ease of planning and execution even for the inexperienced are the most noticeable features. All children were well post operatively. Two patients in whom flaps were taken with acute angles suffered tip necrosis. All flaps gave stable cover to the defect without dehiscence at the suture line. The entire reconstructive process consumed less time and was without major complications.CONCLUSIONSNeural tube malformation congenitally causes spina bifida defects. Spina bifida cases may range from simple to severe defects. Treatment of meningomyelocele spans from primary closure to flap cover closure. Closure of large meningomyelocele defect by bilateral fasciocutaneous flaps is a good method to adopt. This method is simple, less time consuming, technically non-demanding and easily reproducible.

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

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

Effects of exergames on trunk balance control in paraplegic patients / Efeitos dos exergames no controle de tronco de pacientes paraplégicos

Abstract Introduction: Due to motivation and immediate feedback during activities, exergame-based physical therapy may improve trunk balance and functionality in individuals with spinal cord injury (SCI). Objective: evaluate the effects of exergames on the trunk control of paraplegics with spinal cord injury or meningomyelocele. Method: case series involving four paraplegic patients, with SCI or meningomyelocele. Participants underwent a rehabilitation protocol using the exergame Nintendo Wii®, attending one weekly session for 4 weeks. Patients were encouraged to perform trunk movements in the sitting position using the Swordplay and Canoeing games. Data were collected before and after the intervention by applying the functional reach test adapted for trunk control evaluation, and transfer time and propulsion tests for functional assessment. Results: The intervention increased trunk control in 75% of the patients, with improvement varying between 6.4 and 25%. In the propulsion test, the intervention led to a decrease in half of the patients. For the cadence variable, in the same test, there was a reduction in the number of propulsions in 75% of the cases. In the transfer test, the intervention led to reduced chair-to-bed transfer time in all patients. Conclusion: Rehabilitation of paraplegics with the use of exergames can be considered viable, innovative and effective. However, future research with greater methodological rigor should be conducted in order to analyze the clinical applicability of this approach.

Resumo Introdução: Em virtude da motivação e do feedback imediato durante as atividades, os exergames durante a Fisioterapia podem favorecer o equilíbrio de tronco e a funcionalidade em lesados medulares. Objetivo: Avaliar os efeitos dos exergames no controle de tronco de paraplégicos. Método: Série de casos com quatro pacientes paraplégicos, portadores de lesão medular ou mielomeningocele. Os participantes foram submetidos a um protocolo de reabilitação com o uso do exergame Nintendo Wii®, com frequência de uma sessão semanal durante 4 semanas. O paciente foi estimulado a realizar movimentos de tronco na posição sentada através dos jogos esgrima e canoagem. Os instrumentos utilizados para a coleta de dados antes e depois da intervenção foram o Teste de Alcance Funcional adaptado para avaliação do controle de tronco, e o Tempo de Transferência e o Teste de Propulsão para a avaliação funcional. Resultados: A intervenção gerou um aumento absoluto do controle de tronco em 75% dos pacientes, com a melhora variando entre 6,4 e 25%. No Teste de Propulsão, a intervenção levou à redução absoluta do tempo em metade dos pacientes. Para a variável cadência, no mesmo teste, houve redução do número de propulsões em 75% dos casos. No Teste de Transferências, a intervenção gerou redução do tempo entre a cadeira e a cama em todos os pacientes. Conclusão: A reabilitação de paraplégicos com o uso de exergames pode ser considerada viável, inovadora e efetiva. No entanto, pesquisas futuras com maior rigor metodológico devem ser realizadas com vistas à aplicabilidade clínica desta abordagem.