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2.
Int Braz J Urol ; 48(1): 31-51, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-33861059

RESUMO

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.


Assuntos
Cateterismo Uretral Intermitente , Meningomielocele , Disrafismo Espinal , Bexiga Urinaria Neurogênica , Criança , Humanos , Meningomielocele/complicações , Meningomielocele/terapia , Bexiga Urinaria Neurogênica/terapia , Urodinâmica
3.
J Urol ; 207(1): 192-200, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34448629

RESUMO

PURPOSE: Clean intermittent catheterization (CIC) responsibility among youths with spina bifida is not well studied. We sought to determine longitudinal trajectories of CIC responsibility to examine the transition of CIC responsibility from caregiver-CIC to self-CIC. MATERIALS AND METHODS: We performed a secondary analysis of a prospective cohort study of youths with spina bifida. Participants aged 8-15 years originally recruited from 4 hospitals and a statewide spina bifida association were followed every 2 years. Participants who required CIC were included. Group-based trajectory modeling was used to isolate distinct trajectories of CIC responsibility, which was the primary outcome and was graded from caregiver-CIC to shared-CIC to self-CIC. Predictors of trajectory group membership were entered into multivariate logistic regression models and included various demographic, clinical and psychosocial characteristics such as CIC adherence and CIC mastery. RESULTS: Of 140 youths in the original cohort study, 89 met eligibility criteria for this study. Mean age was 11 years at enrollment and 93% of patients had myelomeningocele. Two distinct trajectory groups emerged: 17% of patients had a low-flat trajectory and 83% had a high-increasing trajectory of CIC responsibility, with shared-CIC by age 8-9 years and increasing self-CIC responsibility thereafter. Significant predictors of group membership in the high-increasing trajectory group included less severe spinal lesion levels, higher CIC mastery and lower CIC adherence. CONCLUSIONS: Nearly 1 in 5 youths with spina bifida in our cohort persistently required caregiver-CIC over time, while the remainder achieved shared-CIC responsibility by age 8-9 years, with increasing self-CIC responsibility thereafter.


Assuntos
Cateterismo Uretral Intermitente , Autocuidado , Bexiga Urinaria Neurogênica/terapia , Adolescente , Criança , Feminino , Humanos , Masculino , Estudos Prospectivos , Disrafismo Espinal/complicações , Bexiga Urinaria Neurogênica/etiologia
4.
Proc Natl Acad Sci U S A ; 118(51)2021 12 21.
Artigo em Inglês | MEDLINE | ID: mdl-34916285

RESUMO

Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an estimated 70% of cases. Nevertheless, identifying human mutations conferring SB risk is challenging due to its relative rarity, genetic heterogeneity, incomplete penetrance, and environmental influences that hamper genome-wide association studies approaches to untargeted discovery. Thus, SB genetic studies may suffer from population substructure and/or selection bias introduced by typical candidate gene searches. We report a population based, ancestry-matched whole-genome sequence analysis of SB genetic predisposition using a systems biology strategy to interrogate 298 case-control subject genomes (149 pairs). Genes that were enriched in likely gene disrupting (LGD), rare protein-coding variants were subjected to machine learning analysis to identify genes in which LGD variants occur with a different frequency in cases versus controls and so discriminate between these groups. Those genes with high discriminatory potential for SB significantly enriched pathways pertaining to carbon metabolism, inflammation, innate immunity, cytoskeletal regulation, and essential transcriptional regulation consistent with their having impact on the pathogenesis of human SB. Additionally, an interrogation of conserved noncoding sequences identified robust variant enrichment in regulatory regions of several transcription factors critical to embryonic development. This genome-wide perspective offers an effective approach to the interrogation of coding and noncoding sequence variant contributions to rare complex genetic disorders.


Assuntos
Genoma Humano , Disrafismo Espinal/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Biologia de Sistemas , Fatores de Transcrição/genética
5.
Radiographics ; 41(7): 2176-2192, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34723699

RESUMO

Congenital anomalies of the spine are associated with substantial morbidity in the perinatal period and may affect the rest of the patient's life. Accurate early diagnosis of spinal abnormalities during fetal imaging allows prenatal, perinatal, and postnatal treatment planning, which can substantially affect functional outcomes. The most common and clinically relevant congenital anomalies of the spine fall into three broad categories: spinal dysraphism, segmentation and fusion anomalies of the vertebral column, and sacrococcygeal teratomas. Spinal dysraphism is further categorized into one of two subtypes: open spinal dysraphism and closed spinal dysraphism. The latter category is further subdivided into those with and without subcutaneous masses. Open spinal dysraphism is an emergency and must be closed at birth because of the risk of infection. In utero closure is also offered at some fetal centers. Sacrococcygeal teratomas are the most common fetal pelvic masses and the prognosis is variable. Finally, vertebral body anomalies are categorized into formation (butterfly and hemivertebrae) and segmentation (block vertebrae) anomalies. Although appropriate evaluation of the fetal spine begins with US, which is the initial screening modality of choice, MRI is increasingly important as a problem-solving tool, especially given the recent advances in fetal MRI, its availability, and the complexity of fetal interventions. Online supplemental material is available for this article. ©RSNA, 2021.


Assuntos
Disrafismo Espinal , Coluna Vertebral , Feminino , Feto , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Gravidez , Diagnóstico Pré-Natal
6.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi ; 35(11): 1361-1367, 2021 Nov 15.
Artigo em Chinês | MEDLINE | ID: mdl-34779159

RESUMO

Spina bifida and tethered spinal cord are congenital diseases that can lead to severe disability. At present, most doctors in relevant specialties in China still have insufficient understanding of spina bifida, resulting in high incidence and aggravation of its complications. To provide guidance for the diagnosis and treatment of spina bifida and tethered spinal cord in China, experts from neurosurgery, urology, orthopedics, spine surgery, and rehabilitation departments who have experiences in the diagnosis and treatment of spina bifida discussed and summarized their experiences, and referred to the relevant literature on the diagnosis and treatment of spina bifida at home and abroad. Expert consensus was formed in the following aspects: concept, classification, and pathological changes of spina bifida; diagnosis; treatment process and operation timing; principles and methods of treatment; rehabilitation; and follow up. This expert consensus can provide reference for relevant care providers of spina bifida in China.


Assuntos
Ortopedia , Disrafismo Espinal , Consenso , Humanos , Procedimentos Neurocirúrgicos , Medula Espinal , Disrafismo Espinal/diagnóstico , Disrafismo Espinal/terapia
7.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi ; 35(11): 1368-1373, 2021 Nov 15.
Artigo em Chinês | MEDLINE | ID: mdl-34779160

RESUMO

Objective: To review the research progress on etiology and pathogenesis of spina bifida. Methods: By consulting relevant domestic and foreign research literature on spina bifida, the classification, epidemic trend, pathogenesis, etiology, prevention and treatment of it were analyzed and summarized. Results: Spina bifida, a common phenotype of neural tube defects, is classified based on the degree and pattern of malformation associated with neuroectodermal involvement and is due to the disturbance of neural tube closure 28 days before embryonic development. The prevalence of spina bifida varies greatly among different ethnic groups and regions, and its etiology is complex. Currently, some spina bifida patients can be prevented by folic acid supplements, and with the improvement of treatment technology, the short-term and long-term survival rate of children with spina bifida has improved. Conclusion: The research on the pathogenesis of spina bifida will be based on the refined individual information on exposure, genetics, and complex phenotype, and will provide a theoretical basis for improving prevention and treatment strategies through multidisciplinary cooperation.


Assuntos
Defeitos do Tubo Neural , Disrafismo Espinal , Feminino , Ácido Fólico , Humanos , Gravidez , Prevalência , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/etiologia
8.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi ; 35(11): 1374-1379, 2021 Nov 15.
Artigo em Chinês | MEDLINE | ID: mdl-34779161

RESUMO

Objective: To evaluate the effectiveness and safety of sacral neuromodulation (SNM) in the treatment of neurogenic bladder and bowel dysfunction in patients with spina bifida. Methods: The clinical data of 33 patients with neurogenic bladder and bowel dysfunction caused by spina bifida treated with SNM between July 2012 and May 2021 were retrospectively analyzed. There were 19 males and 14 females, with an average age of 26.0 years (range, 18.5-36.5 years). The disease duration ranged from 12 to 456 months, with an average of 195.8 months. The types of spina bifida included 8 cases of occult spina bifida and 25 cases of meningocele/myelomeningocele. Clinical symptoms included 19 cases of urgency-frequent urination, 18 cases of urinary incontinence, 27 cases of chronic urinary retention, and 29 cases of bowel dysfunction. Image urodynamics showed that 4 patients had detrusor overactivity (DO) and 29 patients had detrusor underactivity (DU). Vesicoureteral reflux (VUR) was found in 5 ureters (4 patients). SNM procedure was divided into experiential treatment and permanent implantation. Patients who were evaluated as successful or willing to be permanently implanted after experiential treatment would implant the permanent pulse generator. Results: The duration of experiential treatment was 14-28 days, with an average of 19.2 days; there was no complication during this period, and the overall success rate was 69.69% (23/33). At the end of experiential treatment, the urination frequency in 24 hours, urine volume per time, urinary urgency score, and urine leakage of patients were significantly improved when compared with those before experiential treatment ( P<0.05); there was no significant difference in postvoid residual volume between before and after experiential treatment ( t=1.383, P=0.179). The success rate of patients with chronic urinary retention after experiential treatment (25.93%) was significantly lower than that of urgency-frequent urination (63.16%) and urinary incontinence (61.11%) ( χ 2=7.260, P=0.064). Compared with those before experiential treatment, the maximum cystometric capacity and compliance increased and the maximum detrusor pressure during filling decreased significantly ( P<0.05). Among the 4 patients with DO before experiential treatment, DO disappeared in 2 cases; 27 patients with DU before experiential treatment did not recover the normal contraction of detrusor during micturition. Among the 5 ureters with VUR before experiential treatment, 2 VUR disappeared at the end of experiential treatment, and the VUR grade or the bladder volume before VUR of the other 3 ureters were improved. At the end of experiential treatment, the neurogenic bowel dysfunction (NBD) score and the grade of bowel dysfunction significantly improved ( P<0.05). A total of 19 patients received permanent implantation, of which 11 patients needed to empty the bladder in combination with intermittent catheterization. Conclusion: SNM is effective for neurogenic bladder and bowel dysfunction in patients with spina bifida. At the same time, it can significantly improve the urodynamic parameters during urine storage and avoid upper urinary tract damage.


Assuntos
Terapia por Estimulação Elétrica , Disrafismo Espinal , Bexiga Urinaria Neurogênica , Adulto , Feminino , Humanos , Masculino , Estudos Retrospectivos , Disrafismo Espinal/complicações , Disrafismo Espinal/terapia , Bexiga Urinaria Neurogênica/etiologia , Bexiga Urinaria Neurogênica/terapia , Urodinâmica
9.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi ; 35(11): 1380-1383, 2021 Nov 15.
Artigo em Chinês | MEDLINE | ID: mdl-34779162

RESUMO

Objective: To analyze the characteristics of patients with secondary lower limb deformity of spina bifida based on the QIN Sihe Orthopedic Surgery Case Data, and provide the references for clinical research, diagnosis, and treatment. Methods: A clinical data of 1 012 patients with secondary lower limb deformity of spina bifida between October 12, 1986 and December 31, 2020 selected from QIN Sihe Orthopedic Surgery Case Data was retrospectively analyzed. Among them, 231 cases (22.83%) had undergone orthopedic surgery for lower extremity deformities in other hospitals. The gender, age at surgery, indicators related to spina bifida (deformity side, comorbidity, sensory disturbance level), and information related to surgery (operating time, surgical site, postoperative fixation method) were analyzed. Results: Of the 1012 patients, 457 were males and 555 were females. The age was 3-51 years at the time of surgery, with a median of 18.0 years; among them, the 15-30 years old group had the most patients, accounting for 53.16%. Most deformities involved both lower limbs (652 cases, 64.43%). There were 111 cases of ulcers in the weight-bearing area of the foot, 265 cases of gatism, 554 cases of sensory disturbance, and 85 cases of abnormal hair on the waist. From 2010 to 2019, there were significantly more patients undergoing surgery than before 2010, reaching 61.17%. Sensory disturbances mostly occurred in the ankle and foot. A total of 1 149 sites were treated with surgery, of which the most ankle joint deformities were corrected by surgery, accounting for 84.33%. The main fixation methods after orthopedic surgery were external fixation, including Ilizarov external fixation (442 cases), combined external fixation (315 cases), and plaster fixation (189 cases). Conclusion: Spina bifida can be secondary to severe deformities of the lower limbs, mainly in the ankles. Common complications include ulcers in the weight-bearing area, dysfunction of urine and feces, and sensory disturbances; external fixation is the main method of fixation after surgery.


Assuntos
Ortopedia , Disrafismo Espinal , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Fixação de Fratura , Humanos , Extremidade Inferior/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Disrafismo Espinal/complicações , Disrafismo Espinal/cirurgia , Adulto Jovem
10.
Fetal Diagn Ther ; 48(9): 690-700, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34814137

RESUMO

OBJECTIVES: The aim of the study was to report a subtype of dysraphism designated as myelic limited dorsal malformation (MyeLDM) and to describe its characteristics at prenatal ultrasound (US). METHODS: It was a retrospective study from 2014 to 2020 based on second-line US evaluation of patients referred to our institution for myelomeningocele (MMC). Magnetic resonance imaging and acetylcholine esterase evaluation in the amniotic fluid were also offered. Major and minor criteria for open and closed dysraphism were defined and recorded for each patient. Patients were included as MyeLDM when both criteria of closed and open dysraphism were observed in the same fetus. Correlations were obtained with the postpartum data. RESULTS: Twenty patients fulfilled the inclusion criteria, some of them being very close to MMC, others very close to limited dorsal myeloschisis (LDM), and others lying in between. There were 13 live-born neonates and 7 terminations of pregnancy. Correlations between prenatal and postpartum data were overall very good. CONCLUSION: Our series describe the ultrasonographic characteristics of an intermediate type of dysraphism and suggest that there is a continuum between MMC and LDM with numerous possibilities of hybrid forms (MyeLDM) sharing characteristics of both open and closed dysraphisms.


Assuntos
Meningomielocele , Disrafismo Espinal , Líquido Amniótico , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Meningomielocele/diagnóstico por imagem , Gravidez , Estudos Retrospectivos
11.
Fetal Diagn Ther ; 48(8): 603-610, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34518445

RESUMO

INTRODUCTION: Prenatal closure of open spina bifida via open fetal surgery improves neurologic outcomes for infants in selected pregnancies. Fetoscopic techniques that are minimally invasive to the uterus aim to provide equivalent fetal benefits while minimizing maternal morbidities, but the optimal technique is undetermined. We describe the development, evolution, and feasibility of the laparotomy-assisted 2-port fetoscopic technique for prenatal closure of fetal spina bifida in a newly established program. METHODS: We conducted a retrospective cohort study of women consented for laparotomy-assisted fetoscopic closure of isolated fetal spina bifida. Inclusion and exclusion criteria followed the Management of Myelomeningocele Study (MOMS). Team preparation involved observation at the originating center, protocol development, ancillary staff training, and surgical rehearsal using patient-matched models through simulation prior to program implementation. The primary outcome was the ability to complete the repair fetoscopically. Secondary maternal and fetal outcomes to assess performance of the technique were collected prospectively. RESULTS: Of 57 women screened, 19 (33%) consented for laparotomy-assisted 2-port fetoscopy between February 2017 and December 2019. Fetoscopic closure was completed in 84% (16/19) cases. Over time, the technique was modified from a single- to a multilayer closure. In utero hindbrain herniation improved in 86% (12/14) of undelivered patients at 6 weeks postoperatively. Spontaneous rupture of membranes occurred in 31% (5/16) of fetoscopic cases. For completed cases, median gestational age at birth was 37 (range 27-39.6) weeks and 50% (8/16) of women delivered at term. Vaginal birth was achieved in 56% (9/16) of patients. One newborn had a cerebrospinal fluid leak that required postnatal surgical repair. CONCLUSION: Implementation of a laparotomy-assisted 2-port fetoscopic spina bifida closure program through rigorous preparation and multispecialty team training may accelerate the learning curve and demonstrates favorable obstetric and perinatal outcomes.


Assuntos
Meningomielocele , Disrafismo Espinal , Feminino , Fetoscopia/efeitos adversos , Humanos , Lactente , Recém-Nascido , Laparotomia , Meningomielocele/cirurgia , Gravidez , Estudos Retrospectivos , Disrafismo Espinal/diagnóstico por imagem , Disrafismo Espinal/cirurgia
13.
Pain ; 162(10): 2532-2538, 2021 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-34534178

RESUMO

ABSTRACT: Chronic pain is the most commonly reported physical symptomology of cerebral palsy (CP) and spina bifida (SB) throughout the lifespan, and yet, pain is perhaps the least understood comorbidity in these populations. The objective of this study was to compare the prevalence and types of pain diagnosed among adults living with and without CP or SB. In this retrospective cohort study, we analyzed data from a nationwide commercial insurance claims database. Beneficiaries were included if they had an International Classification of Diseases, Ninth revision, Clinical Modification diagnosis code for CP or SB (n = 22,648). Adults without CP or SB were also included as controls (n = 931,623). Pain phenotypes (nociceptive, nociplastic, and neuropathic pain) and pain multimorbidity (≥2 conditions) were compared. We found that adults living with CP or SB had a higher prevalence of any pain disorders (55.9% vs 35.2%), nociceptive pain (44.0% vs 26.7%), nociplastic pain (26.1% vs 11.9%), neuropathic pain (9.6% vs 5.6%), and pain multimorbidity (21.1% vs 8.4%), as compared to adults without CP or SB, and differences were to a clinically meaningful extent. Adjusted odds ratios of nociceptive pain (odds ratio [OR]: 2.20; 95% confidence interval [CI]: 2.15-2.24), nociplastic pain (OR: 2.47; 95% CI: 2.41-2.53), neuropathic pain (OR: 2.71; 95% CI: 2.54-2.89), and other pain (OR: 3.92; 95% CI: 3.67-4.19) were significantly higher for adults living with CP or SB. In conclusion, adults with CP or SB have a significantly higher prevalence and odds of common peripheral, central, and neuropathic pain disorders and pain multimorbidity, as compared to adults without CP or SB.


Assuntos
Paralisia Cerebral , Disrafismo Espinal , Adulto , Paralisia Cerebral/complicações , Paralisia Cerebral/epidemiologia , Humanos , Dor , Fenótipo , Estudos Retrospectivos , Disrafismo Espinal/complicações , Disrafismo Espinal/epidemiologia
14.
Pediatr Rev ; 42(9): 486-499, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34470868

RESUMO

Spinal cord diseases in pediatric patients are highly variable in terms of presentation, pathology, and prognosis. Not only do they differ with respect to each other but so too with their adult equivalents. Some of the most common diseases are autoimmune (ie, multiple sclerosis, acute disseminated encephalomyelitis, and acute transverse myelitis), congenital (ie, dysraphism with spina bifida, split cord malformation, and tethered cord syndrome), tumor (ie, juvenile pilocytic astrocytoma, ependymoma, and hem-angioblastoma), and vascular (ie, cavernous malformations, arteriovenous malformations, and dural arteriovenous fistulas) in nature. These each require their own niche treatment paradigm and prognosis. Furthermore, presentation of different spinal cord diseases in children can be difficult to discern without epidemiologic and imaging data. Interpretation of these data is crucial to facilitating a timely and accurate diagnosis. Correspondingly, the aim of this review was to highlight the most pertinent features of the most common spinal cord diseases in the pediatric population.


Assuntos
Encefalomielite Aguda Disseminada , Mielite Transversa , Defeitos do Tubo Neural , Doenças da Medula Espinal , Disrafismo Espinal , Adulto , Criança , Humanos , Imageamento por Ressonância Magnética , Medula Espinal , Disrafismo Espinal/diagnóstico , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/terapia
15.
Front Public Health ; 9: 695192, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34368062

RESUMO

Limited studies have focused on the impact of ambient air pollution on spina bifida. A population-based case-control study was conducted in Liaoning Province, China to assess the associations between maternal PM10 exposures in various exposure windows and spina bifida risk. Data on spina bifida cases born between 2010 and 2015 were available from the Maternal and Child Health Certificate Registry of Liaoning Province. Controls were a random sample of healthy livebirths without any birth defects delivered in the selected five cities during 2010-2015. Ambient air monitoring data for PM10 were obtained from 75 monitoring stations in Liaoning Province. The multivariable logistic regression models were established to calculate adjusted odds ratios (OR) and 95% confidence intervals (CI). We further performed sensitivity analyses by using three propensity score methods. A total of 749 spina bifida cases and 7,950 controls were included. After adjusting for potential confounders, spina bifida was associated with a 10 µg/m3 increment in PM10 during the first trimester of pregnancy (adjusted OR = 1.06, 95% CI: 1.00-1.12) and the 3 months before pregnancy (adjusted OR = 1.12, 95% CI: 1.06-1.19). The adjusted ORs in the final model for the highest vs. the lowest quartile were 1.51 (95% CI: 1.04-2.19) for PM10 during the first trimester of pregnancy and 2.01 (95% CI: 1.43-2.81) for PM10 during the 3 months before pregnancy. Positive associations were found between PM10 exposures during the single month exposure windows and spina bifida. Sensitivity analyses based on two propensity score methods largely reported similar positive associations. Our findings support the evidence that maternal PM10 exposure increases the risk of spina bifida in offspring. Further, validation with a prospective design and a more accurate exposure assessment is warranted.


Assuntos
Poluição do Ar , Disrafismo Espinal , Poluição do Ar/efeitos adversos , Estudos de Casos e Controles , Criança , Feminino , Humanos , Material Particulado/efeitos adversos , Gravidez , Estudos Prospectivos , Disrafismo Espinal/induzido quimicamente
16.
Medicina (Kaunas) ; 57(7)2021 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-34356988

RESUMO

Background and Objectives: Myelomeningocele is the most severe form of spina bifida, a congenital neural tube defect arising from an incomplete neural tube closure during early development with damage worsening with advancing gestational age. The Management of Myelomeningocele Study (MOMS) Trial proved that surgery performed before 26 weeks of gestation significantly improved the prognosis, significantly changing treatment paradigms. This article aims to provide a review of the changes and updates in spina bifida repair over the 10-year period following the MOMS Trial. Material and methods: We performed a systematic review in the PubMed and Cochrane databases as well as a hand-search of high-impact journals using the reference list of all identified articles, searching for randomized controlled trials and observational studies. Results: We identified 27 articles published between 2011 and 2021 that fulfilled the inclusion criteria and review them in the present study. Conclusions: With growing experience and with the improvement of prenatal open and fetoscopic techniques, the outcome of SB-associated conditions could be improved and the risks to both the mother and the fetus reduced. A continuous follow-up of the treated infants and further randomized trials are essential to study the complications and advantages or disadvantages of any given treatment strategy.


Assuntos
Meningomielocele , Defeitos do Tubo Neural , Disrafismo Espinal , Feminino , Feto , Idade Gestacional , Humanos , Lactente , Meningomielocele/cirurgia , Gravidez
17.
Environ Int ; 157: 106800, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34358915

RESUMO

BACKGROUND: Neural tube defects are a pressing public health concern despite advances in prevention from folic acid-based strategies. Numerous chemicals, in particular arsenic, have been associated with neural tube defects in animal models and could influence risk in humans. OBJECTIVES: We investigated the relationship between parental exposure to arsenic and 17 metals and risk of neural tube defects (myelomeningocele and meningocele) in a case control study in Bangladesh. METHODS: Exposure assessment included analysis of maternal and paternal toenail samples using inductively coupled plasma mass spectrometry (ICP-MS). A total of 278 participants (155 cases and 123 controls) with data collected from 2016 to 2020 were included in the analysis. RESULTS: In the paternal models, a one-unit increase in the natural logarithm of paternal toenail arsenic was associated with a 74% (odds ratio: 1.74, 95% confidence interval: 1.26-2.42) greater odds of having a child with spina bifida, after adjusting for relevant covariates. Additionally, paternal exposure to aluminum, cobalt, chromium, iron, selenium, and vanadium was associated with increased odds of having a child with spina bifida in the adjusted models. In the maternal models, a one-unit increase in the natural logarithm of maternal toenail selenium and zinc levels was related to a 382% greater (odds ratio: 4.82, 95% confidence interval: 1.32-17.60) and 89% lower (odds ratio: 0.11, 95% confidence interval: 0.03-0.42) odds of having a child with spina bifida in the adjusted models, respectively. Results did not suggest an interaction between parental toenail metals and maternal serum folate. DISCUSSION: Parental toenail levels of numerous metals were associated with increased risk of spina bifida in Bangladeshi infants. Paternal arsenic exposure was positively associated with neural tube defects in children and is of particular concern given the widespread arsenic poisoning of groundwater resources in Bangladesh and the lack of nutritional interventions aimed to mitigate paternal arsenic exposure. The findings add to the growing body of literature of the impact of metals, especially paternal environmental factors, on child health.


Assuntos
Arsênio , Disrafismo Espinal , Bangladesh/epidemiologia , Estudos de Casos e Controles , Humanos , Masculino , Fatores de Risco , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/etiologia
19.
Birth Defects Res ; 113(17): 1257-1266, 2021 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-34346174

RESUMO

BACKGROUND: Use of nonsteroidal anti-inflammatory drugs (NSAIDs) during pregnancy may increase risk for neural tube defects (NTDs), including spina bifida. Folic acid intake can prevent NTDs, but it is not known whether it modifies any risks associated with NSAID use. OBJECTIVES: To assess the impact of periconceptional NSAID use on the risk of spina bifida overall and stratified by folic acid intake. STUDY DESIGN: We analyzed 1998-2015 data from the Slone Epidemiology Center Birth Defects Study, a multi-site, case-control study. Mothers were interviewed to identify sociodemographic factors, behaviors, and exposures during pregnancy. Periconceptional NSAID use was defined as use of aspirin, ibuprofen, naproxen, or COX2 inhibitors within the month before or after the last menstrual period. Logistic regression models were used to estimate adjusted odds ratios (aORs) and 95% confidence intervals (CIs) for NSAID use, adjusted for study center and race/ethnicity stratified by average daily folic acid intake above ("high FA") or below ("low FA") 400 mcg/day. RESULTS: We compared mothers of 267 infants with spina bifida to mothers of 6,233 nonmalformed controls. Among control mothers, 20% used NSAIDS periconceptionally (16% ibuprofen, 4% aspirin, 3% naproxen, and <1% COX-2 inhibitors). For any NSAID use, the aORs among low FA and high FA women were 1.70 (95% CI [1.13, 2.57]) and 1.09 (95% CI [0.69, 1.71]), respectively. CONCLUSIONS: We observed a small increase in the risk for spina bifida among infants born to women who used NSAIDs periconceptionally, but this risk was limited to those who had inadequate folic acid intake.


Assuntos
Preparações Farmacêuticas , Disrafismo Espinal , Anti-Inflamatórios não Esteroides/efeitos adversos , Estudos de Casos e Controles , Feminino , Ácido Fólico , Humanos , Lactente , Gravidez , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/etiologia , Disrafismo Espinal/prevenção & controle
20.
J Pediatr Psychol ; 46(9): 1040-1050, 2021 09 27.
Artigo em Inglês | MEDLINE | ID: mdl-34350961

RESUMO

OBJECTIVE: This study examined the impact of the COVID-19 pandemic on a national sample of adolescents and young adults (AYA) with spina bifida (SB) and parents of youth with SB. METHODS: AYA with SB (15-25; n = 298) and parents of children with SB (n = 200) were recruited to complete an anonymous, online survey in English or Spanish. Participants provided information about demographic and condition characteristics, as well as their technology access and use for behavioral health care. They also completed the COVID-19 Exposure and Family Impact Survey (CEFIS), which includes Exposure, Impact, and Distress subscales. Exploratory correlations and t-tests were used to examine potential associations between CEFIS scores and demographic, medical, and access characteristics. Qualitative data from the CEFIS were analyzed using thematic analysis. RESULTS: Scores on the Exposure, Impact, and Distress subscales demonstrated significant variability. Demographic associations with Exposure differed for those with higher Impact and Distress (e.g., White, non-Hispanic/Latino AYA reported higher rates of exposure [p = .001]; AYA who identified with a minoritized racial/ethnic identity reported greater impact [p ≤ .03]). Impacts to mental and behavioral health (n = 44), interference with medical care (n = 28), and interpersonal challenges (n = 27) were the most commonly occurring qualitative themes. CONCLUSIONS: The current findings implicate differential impacts to individuals with SB and their families based on demographic, medical, and systemic factors (e.g., minoritized status). Recommendations to support families with SB and other pediatric conditions are made.


Assuntos
COVID-19 , Disrafismo Espinal , Adolescente , Ansiedade/epidemiologia , Criança , Humanos , Pandemias , SARS-CoV-2 , Disrafismo Espinal/epidemiologia , Adulto Jovem
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