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Cureus May 2024Background Spinal dysraphism, characterized by incomplete closure of neural and bone spinal structures, manifests as congenital fusion abnormalities along the dorsal...
Background Spinal dysraphism, characterized by incomplete closure of neural and bone spinal structures, manifests as congenital fusion abnormalities along the dorsal midline, involving the skin, subcutaneous tissue, meninges, vertebrae, and neural tissue. Magnetic resonance imaging (MRI), the preferred imaging modality for assessing spinal dysraphism across all age groups, provides direct visualization of the spinal cord without the need for contrast or ionizing radiation while also eliminating bone artifacts and allowing multiplanar imaging. The objective of this study was to evaluate the range of spinal dysraphism lesions and assess the significance of MRI in their evaluation. Methodology Thirty patients with suspected spinal dysraphism underwent evaluation at the Medical College Hospital and Study Centre in Vijayapur, India. This cross-sectional observational study included patients diagnosed or provisionally diagnosed with spinal dysraphism based on clinical and imaging profiles. Cases were identified through preliminary findings on radiographs. Results The study encompassed individuals aged one month to 20 years, with the largest proportion of patients (36.67%) falling within the 1-5-year age group. Spina bifida was the most prevalent spinal abnormality, accounting for 70% of cases. In 12 patients (40%), the most prevalent location of involvement was the lumbosacral spine. Conclusion MRI provides excellent tissue differentiation, particularly of lipomatous tissue, with reproducible and comprehensive section planes and relative operator independence. Moreover, MRI is beneficial for children with suspected spinal dysraphism as it can be performed without ionizing radiation, biological risks, or the need for intrathecal contrast media.
PubMed: 38916024
DOI: 10.7759/cureus.60972 -
Cureus May 2024Background Spina bifida (SB) leads to various complications, such as bladder and bowel disorders, which can significantly impact quality of life (QOL). Parents of...
Changes in Correlates of Health-Related Quality of Life Between Children with Spina Bifida and Their Parents as Influenced by Their Level of Independence in Toileting Self-Management: A Cross-Sectional Study.
Background Spina bifida (SB) leads to various complications, such as bladder and bowel disorders, which can significantly impact quality of life (QOL). Parents of children with SB are often heavily involved in bladder and bowel management, which can affect their own QOL. Therefore, transitioning to independent bladder and bowel management is pivotal because it influences the QOL of both children with SB and their parents. In this study, we investigated changes in health-related quality of life (HRQOL) among children with SB and their parents in the process of attaining independence in bladder and bowel self-management. Methods Children with SB aged 8-17 years and their parents completed the Japanese version of the QOL assessment in SB for children/teenagers (QUALAS-C/T-J) and the Short Form-8 (SF-8). Independence in bladder and bowel management was assessed using a visual analogue scale (VAS). We calculated the correlation between children's or parents' HRQOL and the children's level of independence in bladder and bowel management. Additionally, we conducted a Mann-Whitney U test on the scores of the higher and lower independence groups. The correlation between parent and child HRQOL was analyzed by dividing children's independence into two groups. Results This study consisted of 83 parent-child pairs. Parents' and children's HRQOL and levels of self-management independence were not significantly correlated, either overall or by level of independence. The parent-child group with less independence, especially in bowel management, showed moderate to strong HRQOL correlations, whereas the group with more independence showed weaker correlations. Conclusions The strength of the correlation for parent-child HRQOL was found to change based on the level of independence in bladder and bowel self-management. These results suggest that the strength of parent-child cohesion tends to be pronounced in regard to the children's degree of independence in bowel management.
PubMed: 38887360
DOI: 10.7759/cureus.60526 -
Acta Neurochirurgica Jun 2024Myelocele is a rare form of open spina bifida. Surgical repair is recommended prenatally or in the first 48 h. In some cases, the repair may be delayed, and specific...
BACKGROUND
Myelocele is a rare form of open spina bifida. Surgical repair is recommended prenatally or in the first 48 h. In some cases, the repair may be delayed, and specific surgical factors need to be considered.
METHOD
We give a brief overview of the surgical anatomy, followed by a description of the surgical repair of a thoracolumbar Myelocele in an 11-month-old child.
CONCLUSION
Surgical repair of the Myelocele stabilizes the neurological status, prevents local and central nervous system infections. The understanding of Myelocele anatomy enables its removal while preserving as much healthy tissue as possible and restoring normal anatomy.
Topics: Humans; Thoracic Vertebrae; Infant; Lumbar Vertebrae; Meningomyelocele; Neurosurgical Procedures; Treatment Outcome; Male; Spinal Dysraphism; Magnetic Resonance Imaging
PubMed: 38884665
DOI: 10.1007/s00701-024-06163-2 -
SAGE Open Medical Case Reports 2024This case study evaluated the effectiveness of using a combination of faradic and neuromuscular electrical stimulation to improve the sensory and motor function of the...
The effect of using a combined electrical stimulation therapy on improving sensory and motor functions of the bladder and the bowel in children with myelomeningocele: A case series.
This case study evaluated the effectiveness of using a combination of faradic and neuromuscular electrical stimulation to improve the sensory and motor function of the bladder/bowel in pediatric patients diagnosed with spina bifida with myelomeningocele. All five patients were pediatric cases aged 4-15 years (mean age 8.4 ± 4.3 years) with complete incontinence in both bladder and bowel functions and self-referred to the Leyaqa Physical Therapy Center in Qatif, Saudi Arabia. All patients had diminished sensation from the hips down and underwent 24 electrical stimulation sessions. Bladder and bowel control were improved by 40% and 20%, respectively. All participants had improved bladder sensation, and 80% had improved bowel sensation. All participants reported improvement in constipation. Feeling the urge or sensation of emptying the bladder or bowel was dramatically improved in all participants. This combination of stimulation electrotherapy can be offered with benefits according to the series of cases studied.
PubMed: 38881968
DOI: 10.1177/2050313X241252737 -
World Neurosurgery Jun 2024Congenital myelomeningocele, or spina bifida(SB) is the predominant congenital anomaly of the central nervous system . Beyond its implications on neonatal mortality, SB...
BACKGROUND
Congenital myelomeningocele, or spina bifida(SB) is the predominant congenital anomaly of the central nervous system . Beyond its implications on neonatal mortality, SB impacts the long-term quality of life in affected children. This study sought to investigate the health related quality of life among children with SB treated at Ethiopia's leading pediatric neurosurgical facility.
METHODS
Set at Zweditu Memorial Hospital in Addis Ababa, Ethiopia, this hospital-based cross-sectional study spanned from June 30, to September 30, 2022. It incorporated 232 children, using data gathered through interviewer-led questionnaires. The health-related quality of life was measured using the PedsQL 4.0 a 23-item generic scale.
RESULTS
The study's participants had a median age of 5 years (Interquartile range=3 to 6 years). The aggregate mean scores on the PedsQL™ 4.0 tallied at 68.59 ± 18.01. The lowest scores emerged from queries on school participation, whereas physical and emotional functioning registered the highest scores. Through multiple regression analyses, variables such as family income, monthly household income, number of children, and the presence of a neurogenic bladder showed strong association with health-related quality of life.
CONCLUSIONS
This study fills a gap in the literature providing information on the health-related quality of life and its associated factors for children with SB in low resourced settings. We champion the proactive integration of quality of life metrics into neurosurgical care policy and practice. Given the enduring consequences of SB, interventions honing the health-related quality of life can steer children towards realizing their intrinsic and enhance societal participation and contribution.
PubMed: 38878894
DOI: 10.1016/j.wneu.2024.06.028 -
BMC Urology Jun 2024Wilms tumor (WT), also known as nephroblastoma, is rare in adults, accounting for merely 3% of all nephroblastomas or 0.2 cases per million individuals. Extrarenal Wilms... (Review)
Review
BACKGROUND
Wilms tumor (WT), also known as nephroblastoma, is rare in adults, accounting for merely 3% of all nephroblastomas or 0.2 cases per million individuals. Extrarenal Wilms tumor (ERWT) emerges outside the renal boundaries and comprises 0.5 to 1% of all WT cases, with even rarer incidences in adults. Oncogenic mutations associated with ectopic nephrogenic rests (NR) may contribute to ERWT development. Diagnosis involves surgical resection and pathology examination. Due to scarce cases, adults often rely on pediatric guidelines. We thoroughly searched PubMed, Scopus, and Web of Science databases to establish our case's uniqueness. To the best of our knowledge, this is the first documented incidence of extrarenal Wilms tumor within the spinal canal in the adult population.
CASE PRESENTATION
A 22-year-old woman with a history of congenital lipo-myelomeningocele surgery as an infant presented with a 6-month history of back pain. This pain gradually resulted in limb weakness, paraparesis, and loss of bladder and bowel control. An MRI showed a 6 × 5 × 3 cm spinal canal mass at the L4-S1 level. Consequently, a laminectomy was performed at the L4-L5 level to remove the intramedullary tumor. Post-surgery histopathology and immunohistochemistry confirmed the tumor as ERWT with favorable histology without any teratomatous component.
CONCLUSION
This report underscores the rarity of extrarenal Wilms tumor (ERWT) in adults, challenging conventional assumptions about its typical age of occurrence. It emphasizes the importance of clinical awareness regarding such uncommon cases. Moreover, the co-occurrence of spinal ERWTs and a history of spinal anomalies warrants further investigation.
Topics: Humans; Wilms Tumor; Female; Spinal Canal; Young Adult; Incidence; Kidney Neoplasms; Spinal Neoplasms
PubMed: 38858693
DOI: 10.1186/s12894-024-01508-6 -
MedRxiv : the Preprint Server For... May 2024The binary classification of spina bifida lesions as myelomeningocele (with sac) or myeloschisis (without sac) belies a spectrum of morphologies, which have not been...
IMPORTANCE
The binary classification of spina bifida lesions as myelomeningocele (with sac) or myeloschisis (without sac) belies a spectrum of morphologies, which have not been correlated to clinical characteristics and outcomes.
OBJECTIVE
To characterize spina bifida lesion types and correlate them with preoperative presentation and postoperative outcomes.
DESIGN
Secondary analysis of images and videos obtained during fetoscopic spina bifida repair surgery from 2020-2023.
SETTING
Fetal surgery was performed at a quaternary care center.
PARTICIPANTS
A prospective cohort of patients referred for fetal spina bifida underwent fetoscopic repair under an FDA-approved protocol. Of 60 lesions repaired, 57 had available images and were included in the analysis.
INTERVENTIONS OR EXPOSURES
We evaluated lesion morphology on high-resolution intraoperative images and videos to categorize lesions based on placode exposure and nerve root stretching.
MAIN OUTCOMES AND MEASURES
The reproducibility of the lesion classification was assessed via Kappa interrater agreement. Preoperative characteristics analyzed include ventricle size, tonsillar herniation level, lower extremities movement, and lesion dimensions. Outcomes included surgical time, need for patch for skin closure, gestational age at delivery, preterm premature rupture of membranes (PPROM), and neonatal cerebrospinal fluid (CSF) diversion.
RESULTS
We distinguished five lesion types that differ across a range of sac sizes, nerve root stretching, and placode exposure, with 93% agreement between examiners (p<0.001). Fetal characteristics at preoperative evaluation differed significantly by lesion type, including lesion volume (p<0.001), largest ventricle size (p=0.008), tonsillar herniation (p=0.005), and head circumference (p=0.03). Lesion level, talipes, and lower extremities movement did not differ by type. Surgical and perinatal outcomes differed by lesion type, including need for patch skin closure (p<0.001), gestational age at delivery (p=0.01), and NICU length of stay (p<0.001). PPROM, CSF leakage at birth, and CSF diversion in the NICU did not differ between lesion groups. Linear regression associated severity of ventriculomegaly with lesion type, but not with tonsillar herniation level.
CONCLUSIONS AND RELEVANCE
There is a distinct phenotypic spectrum in open spina bifida with differential baseline presentation and outcomes. Severity of ventriculomegaly is associated with lesion type, rather than tonsillar herniation level. Our findings expand the classification of spina bifida to reveal a spectrum that warrants further study.
PubMed: 38853851
DOI: 10.1101/2024.05.29.24308088 -
Environmental Health : a Global Access... Jun 2024Spina bifida, a developmental malformation of the spinal cord, is associated with high rates of mortality and disability. Although folic acid-based preventive strategies...
BACKGROUND
Spina bifida, a developmental malformation of the spinal cord, is associated with high rates of mortality and disability. Although folic acid-based preventive strategies have been successful in reducing rates of spina bifida, some areas continue to be at higher risk because of chemical exposures. Bangladesh has high arsenic exposures through contaminated drinking water and high rates of spina bifida. This study examines the relationships between mother's arsenic exposure, folic acid, and spina bifida risk in Bangladesh.
METHODS
We conducted a hospital-based case-control study at the National Institute of Neurosciences & Hospital (NINS&H) in Dhaka, Bangladesh, between December 2016 and December 2022. Cases were infants under age one year with spina bifida and further classified by a neurosurgeon and imaging. Controls were drawn from children seen at NINS&H and nearby Dhaka Shishu Hospital. Mothers reported folic acid use during pregnancy, and we assessed folate status with serum assays. Arsenic exposure was estimated in drinking water using graphite furnace atomic absorption spectrophotometry (GF-AAS) and in toenails using inductively coupled plasma mass spectrometry (ICP-MS). We used logistic regression to examine the associations between arsenic and spina bifida. We used stratified models to examine the associations between folic acid and spina bifida at different levels of arsenic exposure.
RESULTS
We evaluated data from 294 cases of spina bifida and 163 controls. We did not find a main effect of mother's arsenic exposure on spina bifida risk. However, in stratified analyses, folic acid use was associated with lower odds of spina bifida (adjusted odds ratio [OR]: 0.50, 95% confidence interval [CI]: 0.25-1.00, p = 0.05) among women with toenail arsenic concentrations below the median value of 0.46 µg/g, and no association was seen among mothers with toenail arsenic concentrations higher than 0.46 µg/g (adjusted OR: 1.09, 95% CI: 0.52-2.29, p = 0.82).
CONCLUSIONS
Mother's arsenic exposure modified the protective association of folic acid with spina bifida. Increased surveillance and additional preventive strategies, such as folic acid fortification and reduction of arsenic, are needed in areas of high arsenic exposure.
Topics: Humans; Folic Acid; Bangladesh; Spinal Dysraphism; Case-Control Studies; Female; Arsenic; Infant; Male; Adult; Infant, Newborn; Pregnancy; Water Pollutants, Chemical; Maternal Exposure; Young Adult; Drinking Water
PubMed: 38831396
DOI: 10.1186/s12940-024-01091-1 -
International Journal of Environmental... May 2024Spina bifida includes a spectrum of different neural tube defects. Myelomeningocele is the most serious type and is associated with a risk of paralysis and sensory...
Spina bifida includes a spectrum of different neural tube defects. Myelomeningocele is the most serious type and is associated with a risk of paralysis and sensory dysfunction below the affected level, bladder/bowel dysfunction, brain dysmorphology, and impaired health-related quality of life (HRQoL). The aim of this study was to describe the establishment of linguistic, content and face validity of the Swedish version of a Quality-of-Life Assessment for children (QUALAS-C, = 10 items), teenagers (QUALAS-T, = 10 items) and adults with spina bifida (QUALAS-A, = 15 items) based on the original US English versions. The process included close collaboration with the original instrument developer and complied with international standards on patient-reported outcome measurements. The procedure includes forward translation, expert and patient/parent review and reconciliation, back translation, back translation review and cognitive debriefing interviews with 16 people with spina bifida aged 8 to 33, providing them with the possibility of evaluating the clarity, adequacy, and comprehensiveness of QUALAS-C, QUALAS-T and QUALAS-A, respectively. The interviews lasted a median of 15 min (range 8-16) for QUALAS-C, 10 min (range 9-15) for QUALAS-T and 24 min (range 9-38) for QUALAS-A. Four main issues/topics needed attention and discussion after both the forward and back translation. Following the back translation review, all issues were resolved. The patient feedback revealed recognition of the HRQoL issues included in QUALAS, and also difficulties in understanding some questions. After the patients' evaluation, four items were reworded for clarity. No study participant reported a wish to add to or remove questions from QUALAS. Hence, the Swedish versions of QUALAS became conceptually equivalent to the original US English versions and achieved linguistic, content and face validity. While empowering the voices of people with spina bifida, these results also enable their HRQoL to be properly assessed in research and clinical care in Sweden and in international studies.
Topics: Humans; Quality of Life; Spinal Dysraphism; Adolescent; Sweden; Adult; Child; Female; Male; Young Adult; Surveys and Questionnaires; Reproducibility of Results; Linguistics
PubMed: 38791838
DOI: 10.3390/ijerph21050624 -
Biomedicines Apr 2024Lower urinary tract dysfunction is clinically important because it may cause urinary tract infections, mainly due to accumulation of residual urine, and adversely affect... (Review)
Review
Lower urinary tract dysfunction is clinically important because it may cause urinary tract infections, mainly due to accumulation of residual urine, and adversely affect renal function. In addition, it may cause urinary incontinence, strongly affecting the child's quality of life. The function of the lower urinary tract is closely associated with function of the bowel because constipation is commonly present with bladder dysfunction. The interplay between the lower urinary tract and bowel function, coupled with common conditions such as detrusor overactivity and voiding dysfunction, requires a nuanced diagnostic approach. Detrusor overactivity, a benign but socially harmful condition, is the principal cause of daytime urinary incontinence in childhood. It needs to be differentiated from more serious conditions such as neurogenic bladder dysfunction or urethral obstruction. Voiding dysfunction, a habitual sphincter contraction during voiding, is common in children with detrusor overactivity and may be self limiting but may also result in residual urine and urinary tract infections. It may resemble, in severe cases, neurogenic bladder dysfunction, most often caused by spinal dysraphism, which very often leads to recurrent urinary tract infections and high intravesical pressures, jeopardizing renal function. A voiding diary is crucial in the initial evaluation of lower urinary tract function in children.
PubMed: 38790908
DOI: 10.3390/biomedicines12050945