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1.
Childs Nerv Syst ; 2024 Jul 27.
Article in English | MEDLINE | ID: mdl-39060749

ABSTRACT

BACKGROUND: Spinal arteriovenous shunts and spinal dysraphism both have a different underlying cause, disease spectrum and developmental process; hence, these entities rarely coexist in a patient. Here, we reported four cases of coexistence of adult-onset spinal arteriovenous shunt and spinal dysraphism in the same patient along with their therapeutic embolisation. Additionally, we conducted an extensive literature review to explore the potential theories and explanations for this coexistence. METHODS: We retrospectively searched our imaging database from January 2015 to December 2023 to identify instances of spinal arteriovenous shunts occurring in patients with spinal dysraphism or neural tube defect disorders. MRI and angiographic imaging, clinical presentation, treatment and follow-up were analysed. RESULTS: Four patients with arteriovenous fistula/shunt and spinal dysraphism were included in the study. The mean age of presentation was 35.5 years. The most common symptoms were sensory disturbance and motor weakness. Arteriovenous fistula or shunt was located at the lumber region in one patient and at the sacral region in three cases. Two patients have a prior history of surgery in first decade. Two patients were treated with glue embolisation. The internal iliac artery was a common feeder in all cases. CONCLUSIONS: The rare coexistence of neural tube defects with spinal vascular abnormalities should be considered when assessing a middle-aged patient with neural tube defect and myelopathy. Correct diagnosis can help in treatment planning and thereby improve prognosis.

2.
J Surg Case Rep ; 2024(7): rjae441, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38974091

ABSTRACT

Ectopic breasts represent uncommon medical anomalies characterized by the presence of additional breasts situated outside the typical milk line. In this case report, we present a case encompassing dorsal ectopic breasts accompanied by three nipples. A 14-year-old teen girl presented with a significant dorsal mass, exhibiting no clinical manifestations except mild pain and a sense of heaviness. She underwent investigations, and a magnetic resonance imaging scan revealed a large, inadequately encapsulated congenital mass with a fatty composition, alongside intraspinal epidural engagement and a bony structure bridging the spinous processes from the C6 to the T3 vertebral bodies. She subsequently underwent excision of the entire mass. The histopathological analysis identified the presence of a mammary hamartoma. Follow-up at 2 weeks postoperatively showed that there were no further complications. Dorsal ectopic breast necessitates careful and comprehensive evaluation to either confirm or exclude the presence of occult spinal dysraphism prior to intervention to avoid complications.

3.
J Pediatr Urol ; 20(4): 724.e1-724.e7, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38969555

ABSTRACT

INTRODUCTION: The Set Brave Goals app is the first digital health app (DHA) aimed at helping children with spina bifida (SB) aged 8-17 years old to select and track their urinary and fecal continence goals. Developed by children, parents, providers and researchers, its usability, or appropriateness to a purpose ("user-friendliness"), remains unknown. In an alpha testing stage, our aim was to determine the usability of the app prior to clinical use. METHODS: We recruited children with SB and their parents in clinic and via social media. A recruitment goal of 10 children exceeded industry standard of 5 participants (10 participants are expected to identify approximately 96% of usability problems). Participants downloaded and used the app for a week. They completed a questionnaire, including the System Usability Scale (SUS) and closed and open-ended questions. The SUS is a 10-item validated usability questionnaire most widely used in DHA usability testing (scores range from 0 to 100, 100 representing greatest usability). Median/mean SUS scores for DHAs are 68. Mann-Whitney-U and t-tests were used. RESULTS: Ten children with SB participated (median age: 14 years old, 6 female, 8 shunted, 8 using bladder catheterizations). Twenty parents participated (17 mothers, median age: 42 years old). Median SUS score was 77.5 for children and 73.8 for parents, corresponding to "good" to "excellent" usability (Summary Figure). There were no significant differences between child/parent scores (p = 0.69) or those for other DHAs (p = 0.11). It took a median 5-10 min to go through the app (2 parents felt it took too much time). All participants felt the app was easy to understand and use (100%). Most participants would recommend it to children and parents (children: 89%, parents: 80%), and believed it would be valuable to children (90%, 75%) and urologists (80%, 80%). Free text responses related to more varied color schemes, keeping free-text notes within the app and more flexible goal/alarm setting. These changes were incorporated into the app. COMMENT: Usability testing prior to clinical launch identified areas for app improvement. Although this study sample met industry standards, findings are limited by a small group of participants. The app will undergo further refinement during prospective beta testing. CONCLUSIONS: The Set Brave Goals app for children with SB has acceptable usability parameters. This justifies proceeding with wider use to formalize children's continence goal setting/tracking and testing its value to children with SB and their healthcare providers.


Subject(s)
Fecal Incontinence , Mobile Applications , Spinal Dysraphism , Urinary Incontinence , Humans , Spinal Dysraphism/complications , Child , Adolescent , Female , Male , Urinary Incontinence/etiology , Urinary Incontinence/diagnosis , Surveys and Questionnaires , Fecal Incontinence/etiology , Goals
4.
Cureus ; 16(5): e60526, 2024 May.
Article in English | MEDLINE | ID: mdl-38887360

ABSTRACT

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.

5.
Acta Neurochir (Wien) ; 166(1): 270, 2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38884665

ABSTRACT

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.


Subject(s)
Lumbar Vertebrae , Thoracic Vertebrae , Humans , Thoracic Vertebrae/surgery , Thoracic Vertebrae/diagnostic imaging , Infant , Lumbar Vertebrae/surgery , Meningomyelocele/surgery , Neurosurgical Procedures/methods , Treatment Outcome , Male , Spinal Dysraphism/surgery , Magnetic Resonance Imaging
6.
Magn Reson Imaging Clin N Am ; 32(3): 431-442, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38944432

ABSTRACT

This review covers the embryology, definition, and diagnosis of open spinal dysraphism with a focus on fetal ultrasound and MR imaging findings. Differentiating open versus closed spinal dysraphic defects on fetal imaging will also be discussed. Current fetal surgery practices and imaging findings in the context of fetal surgery are also reviewed.


Subject(s)
Magnetic Resonance Imaging , Prenatal Diagnosis , Spine , Humans , Magnetic Resonance Imaging/methods , Female , Spine/diagnostic imaging , Spine/abnormalities , Spine/surgery , Pregnancy , Prenatal Diagnosis/methods , Spinal Dysraphism/diagnostic imaging , Spinal Dysraphism/surgery , Ultrasonography, Prenatal/methods , Fetal Diseases/diagnostic imaging , Fetal Diseases/surgery
7.
BMC Urol ; 24(1): 119, 2024 Jun 10.
Article in English | MEDLINE | ID: mdl-38858693

ABSTRACT

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.


Subject(s)
Spinal Canal , Wilms Tumor , Humans , Wilms Tumor/surgery , Female , Spinal Canal/pathology , Spinal Canal/diagnostic imaging , Young Adult , Incidence , Kidney Neoplasms/surgery , Kidney Neoplasms/pathology , Kidney Neoplasms/diagnostic imaging , Spinal Neoplasms/surgery , Spinal Neoplasms/diagnostic imaging
8.
Cureus ; 16(5): e60972, 2024 May.
Article in English | MEDLINE | ID: mdl-38916024

ABSTRACT

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.

9.
Urol Pract ; 11(5): 841-848, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38913592

ABSTRACT

INTRODUCTION: Our goal was to better understand the health care utilization of patients with spina bifida (SB) by evaluating length of hospital stay (LOS) as well as identifying what characteristics within the SB population are contributing to shorter or longer LOS. METHODS: By querying the Department of Health Care Access and Information database of all encounters at California-licensed hospitals from January 1995 through December 2017, this study analyzed LOS as a measure of health care utilization. Patients with SB were identified using the International Classification of Diseases-9 and -10 coding system, and the data collected for both SB and control cohorts were compared using linear and logistic regression models. RESULTS: Patients with SB spent a mean LOS of 7.3 days compared to 4.7 days among the control cohort (P < .001). In multivariable analysis, SB was found to be an independent predictor of longer LOS. Within the SB encounters, increasing comorbidities and nonprivate insurance were associated with longer LOS, while being female and Hispanic were associated with a shorter LOS. CONCLUSIONS: SB is an independent predictor of longer LOS when compared to the control cohort. These findings highlight the importance of understanding the preventive health care access and needs of the vulnerable SB population to decrease hospital utilization rates.


Subject(s)
Length of Stay , Patient Acceptance of Health Care , Spinal Dysraphism , Humans , California , Female , Length of Stay/statistics & numerical data , Spinal Dysraphism/therapy , Spinal Dysraphism/epidemiology , Male , Child , Child, Preschool , Adolescent , Adult , Young Adult , Patient Acceptance of Health Care/statistics & numerical data , Infant , Middle Aged , Retrospective Studies , Infant, Newborn
10.
J Urol ; 212(2): 362-371, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38701236

ABSTRACT

PURPOSE: We sought to assess associations between health-related quality of life (QOL), bladder-related QOL, bladder symptoms, and bladder catheterization route among adolescents and young adults with spina bifida. MATERIALS AND METHODS: Clinical questionnaires administered to individuals ≥ 12 years old requiring catheterization between June 2019 to March 2020 in a spina bifida center were retrospectively analyzed. Questionnaires were completed in English or Spanish independently or with caregiver assistance. Medical records were reviewed for demographic and clinical characteristics. Primary exposure was catheterization route (urethra or channel). Primary outcome was health-related QOL, measured by Patient-Reported Outcomes Measurement Information System Pediatric Global Health 7 (PGH-7). Secondary outcomes were bladder-related QOL and bladder symptoms, measured by Neurogenic Bladder Symptom Score (NBSS). Nested, multivariable linear regression models assessed associations between catheterization route and questionnaire scores. RESULTS: Of 162 patients requiring catheterization, 146 completed both the PGH-7 and NBSS and were included. Seventy-three percent were catheterized via urethra and 27% via channel. Median age was 17.5 years (range 12-31), 58% of patients were female, and 80% had myelomeningocele. Urinary incontinence was more common among those who catheterized via urethra (60%) compared to channel (33%). On adjusted analyses, catheterization route was not significantly associated with PGH-7 or NBSS bladder-related QOL scores. More bladder symptoms were associated with worse bladder-related QOL. Patients who catheterized via channel had fewer bladder symptoms than those who catheterized via urethra. CONCLUSIONS: Catheterization route was not significantly associated with QOL. Though catheterization via channel was associated with fewer bladder symptoms, only degree of current bladder symptoms was significantly associated with bladder-related QOL.


Subject(s)
Quality of Life , Spinal Dysraphism , Urinary Bladder, Neurogenic , Urinary Catheterization , Humans , Adolescent , Female , Male , Spinal Dysraphism/complications , Retrospective Studies , Young Adult , Adult , Child , Urinary Bladder, Neurogenic/etiology , Urinary Bladder, Neurogenic/therapy , Urethra , Surveys and Questionnaires , Patient Reported Outcome Measures
11.
Surg Neurol Int ; 15: 151, 2024.
Article in English | MEDLINE | ID: mdl-38741980

ABSTRACT

Background: Intracranial lipomas are a rare clinical entity. These lesions are frequently asymptomatic and originate in the pericallosal area. As they are fat-containing lesions which are intimately attached to the surrounding structures, surgery is not recommended. In some individual reports, subtotal resection is recommended to lessen complications. There have been no previous reports of corpus callosum lipoma (CCL) associated with limited dorsal myeloschizis (LDM). Case Description: We describe the case of a combination of CCL and bilateral choroid plexus lipoma discovered incidentally during the investigation of LDM in a 3-month-old male child. Given the asymptomatic behavior of the lipoma and the vascular elements of the pericallosal area, it was decided to monitor it regularly. Thus, the patient underwent surgery only for LDM. Histological examination confirmed the diagnosis, and postoperative follow-up 1 year after showed good evolution. To the best of our knowledge, this association has never been described in the literature. Conclusion: This case suggests a possible developmental relationship between CCL and spinal dysraphism.

12.
BJA Educ ; 24(6): 203-209, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38764443
13.
Childs Nerv Syst ; 40(7): 2235-2239, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38609721

ABSTRACT

Mirror movements, characterized by involuntary symmetrical movements in contralateral body parts during intentional movements, have been associated with various neurological conditions. Limited dorsal myeloschisis (LDM), a rare form of spinal dysraphism, is defined by a focal closed midline defect and a fibro-neural stalk connecting the skin lesion to the underlying cord. We present a unique case of a 4-year-old girl with cervical LDM exhibiting mirror movements. The patient underwent surgical exploration, skin tag excision, fibrous tract removal, and cervical spinal cord detethering. Post-operatively, there was a partial improvement in mirror movements and a complete resolution of hand grip weakness.


Subject(s)
Spinal Dysraphism , Humans , Female , Child, Preschool , Spinal Dysraphism/surgery , Spinal Dysraphism/complications , Cervical Vertebrae/surgery , Cervical Vertebrae/diagnostic imaging , Cervical Cord/surgery , Cervical Cord/diagnostic imaging
14.
Int J Urol ; 31(7): 819-824, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38634346

ABSTRACT

OBJECTIVES: This study evaluated patients with occult spinal dysraphism who underwent spinal cord untethering. METHODS: Twenty-four patients who visited us between 1983 and 2000 were followed-up for a mean duration of 31 years. We studied their lower urinary tract function, skin stigmata, fertility, and work participation. RESULTS: Questionnaires sent in 2022 revealed that 5 patients had normal voiding (Group A) and 19 patients had abnormal voiding (Group B). Groups A and B underwent spinal cord untethering at a mean age of 5.7 and 13.0 years, respectively, showing a significant statistical difference (p = 0.036). After spinal cord untethering, the number of patients with detrusor normoactivity increased from 0 to 5, i.e., 3 of 6 with detrusor overactivity (50%), 1 of 2 not examined, and 1 of 5 not known. Patients with detrusor underactivity also increased from 11 to 19. Severity of incontinence in the International Consultation on Incontinence Questionnaire-Short Form resulted in a mean value of 2.4 in Group A, which was significantly superior to the mean value of 9.1 in Group B (p = 0.004). Fourteen patients (58.3%) were married and had 21 healthy children. A majority of patients have had full-time jobs. A variety of skin stigmata were present in the lumbosacral region, and changes in vesico-urethral configurations were observed during a video-urodynamic study. CONCLUSIONS: Our study identified that the early timing of spinal cord untethering performed in neonates or infants and detrusor overactivity prior to untethering surgery are important factors in achieving normal bladder function.


Subject(s)
Fertility , Humans , Female , Male , Follow-Up Studies , Adolescent , Child , Adult , Child, Preschool , Surveys and Questionnaires , Young Adult , Spina Bifida Occulta/complications , Infant , Urinary Incontinence/etiology , Urinary Incontinence/physiopathology , Urinary Bladder, Overactive/physiopathology , Spinal Dysraphism/complications , Spinal Dysraphism/physiopathology , Spinal Dysraphism/surgery , Spinal Cord/physiopathology
15.
Pediatr Surg Int ; 40(1): 114, 2024 Apr 29.
Article in English | MEDLINE | ID: mdl-38683501

ABSTRACT

INTRODUCTION: Spinal dysraphism is the most frequent cause of neurogenic bladder. Urodynamic study (UDS) is an important component of the follow-up of a child with neurogenic bladder. However, it suffers from a lack of widespread availability and is further hampered by technical difficulties and difficulty in its interpretation in children. A neurogenic bladder often appears vertically elongated; only limited and sparse literature is available regarding objectively defining the bladder shape and the urodynamic parameters in the cohort. OBJECTIVES: This study aimed to investigate the usefulness of the bladder's height-to-width ratio (HWR) on cystogram as a screening tool for identifying "non-physiological" bladder pressures in children with spinal dysraphism. A prospective study was undertaken to evaluate children operated for spinal dysraphism. Cystogram, ultrasonography and UDS evaluation were performed. HWR was calculated by the ratio of the maximum height to the maximum bladder width at maximum cystometric capacity (MCC), where MCC was calculated using standard Koff's formula, given by (age in years + 2) *30 ml in children more than one year and weight *7 ml for infants. The children were categorised into groups based on maximum detrusor pressure (MDP) into two groups (MDP ≥ 30 cmH2O and MDP < 30 cmH2O). A receiver-operative characteristic curve was constructed to analyse the sensitivity and specificity of HWR in predicting the MDP. RESULTS: A total of 53 children, operated for spinal dysraphism, met the study criteria during the study period, from March 2021 to September 2022. The median age of children was 4 years (IQR-3-5.5 years). The HWR ratio was compared between the two groups and was significantly higher for the non-physiological pressure bladders than for physiological pressure bladders (mean of 1.55 vs 1.26, p = 0.001). On evaluating the sensitivity and specificity of HWR for discerning children with non-physiological bladder pressures were 87.5% and 48.28%, respectively. The area under the curve (AUC) was 0.781, with a cut-off value of 1.3. DISCUSSION: We attempted to evaluate the HWR based on bladder shape objectively. We demonstrated a moderate correlation between the bladder shape and the bladder pressures. An HWR of 1.3 or higher could be significant for identifying a non-physiological bladder storage pressure. CONCLUSION: The height to width ratio of the bladder on cystogram is a useful tool as a surrogate marker for non-physiological storage pressures in bladders of children with spinal dysraphism.


Subject(s)
Spinal Dysraphism , Urinary Bladder, Neurogenic , Urinary Bladder , Urodynamics , Humans , Prospective Studies , Urinary Bladder/physiopathology , Urinary Bladder/diagnostic imaging , Female , Child, Preschool , Male , Urodynamics/physiology , Spinal Dysraphism/physiopathology , Spinal Dysraphism/complications , Spinal Dysraphism/diagnostic imaging , Child , Urinary Bladder, Neurogenic/physiopathology , Urinary Bladder, Neurogenic/etiology , Infant , Cystography/methods , Ultrasonography/methods , Pressure
16.
J Anaesthesiol Clin Pharmacol ; 40(1): 90-94, 2024.
Article in English | MEDLINE | ID: mdl-38666156

ABSTRACT

Background and Aim: The use of ultrasound has immensely increased the safety toward regional blocks and central venous access and has been considered as the standard of care for securing central access. The aim of this study is to estimate the prevalence of occult spinal dysraphism using ultrasound in children less than 2 years of age undergoing elective urogenital or anorectal surgery. Material and Methods: The lumbosacral region of 159 American Society of Anesthesiologists (ASA) category I/II patients, posted for elective urogenital and anorectal surgery was scanned with ultrasound, prior to giving caudal block. Results: The prevalence of occult spina bifida was 3% in our study. There was no statistically significant association of cutaneous marker with abnormal scan. Conclusion: Prevalence of occult spina bifida was ten-times higher in our study than in the general population. Perioperative ultrasound screening of the lower spinal anatomy by anesthesiologist done prior to performing neuraxial block is worthwhile in ruling out occult spinal anomalies in high-risk children of occult spinal dysraphism.

17.
Int Orthop ; 48(6): 1589-1598, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38581468

ABSTRACT

PURPOSE: Early recognition is crucial for occult spinal dysraphism associated with congenital spinal deformities. There is limited literature available on its occurrence in congenital scoliosis and kyphosis in the Indian population. METHODS: Our study involved a retrospective review of 247 children who presented at a single centre. We analyzed their demographics and clinical and radiological findings, which included the type of deformity, its location, vertebral anomaly, Cobb angle, and MRI findings. The deformities were categorized as congenital scoliosis or congenital kyphosis with failure of formation, failure of segmentation, or both. RESULTS: A total of 247 cases were examined (congenital scoliosis-229, congenital kyphosis-18). The average age was seven years (range 0.8 to 19 years, SD 4.6). The mean Cobb angle at presentation in the congenital scoliosis group was 49.4° (range 8 to 145°, SD 23.77) for those with abnormal MRI and 42.45° (range 5 to 97°, SD 20.09) for those with normal MRI. For the congenital kyphosis group, the mean K angle at presentation was 47.7° (range 14 to 110°, SD 33.33) for those with abnormal MRI and 47.36° (range 15 to 70°, SD 16.63) for those with normal MRI. Abnormal MRI results were observed in 130 of the patients (congenital scoliosis-53.7%, congenital kyphosis-38.8%). The highest incidence of abnormal MRI findings was observed in the failure of segmentation (66.6%) and mixed (65%) types. Deformities in the dorsal region had the highest incidence (61.9%). The most common dysraphism instances were diastematomyelia and tethered cord. There was a significant correlation between type of deformity and presence of dysraphism. CONCLUSION: This is the largest case series of congenital scoliosis and kyphosis reported from India. We found a high incidence of occult spinal dysraphism as compared to other published series. Occult spinal dysraphism is more common in the thoracic region. Diastematomyelia followed by tethered cord was the most common anomaly observed. We recommend MRI screening of whole spine and craniovertebral junction.


Subject(s)
Kyphosis , Magnetic Resonance Imaging , Scoliosis , Spinal Dysraphism , Humans , Retrospective Studies , Scoliosis/epidemiology , Scoliosis/congenital , Scoliosis/diagnostic imaging , Scoliosis/complications , Kyphosis/epidemiology , Kyphosis/diagnostic imaging , Adolescent , Child , India/epidemiology , Female , Male , Child, Preschool , Infant , Spinal Dysraphism/complications , Spinal Dysraphism/epidemiology , Spinal Dysraphism/diagnostic imaging , Young Adult , Spine/abnormalities , Spine/diagnostic imaging
18.
Clin Case Rep ; 12(4): e8783, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38645607

ABSTRACT

Diastematomyelia, tethered cord, intradural extramedullary dermoid tumor and lipomyelomeningocele such disease entities themselves are rare in their own form and concurrent presentation of all those pathological states in a single individual can be considered one of the rarest forms of spinal dysraphism globally. Moreover for prompt management with optimal prognosis needs refined neurosurgical intervention guided by intraoperative neuromonitoring so as to bring about the best quality of life in the patient.

19.
J Pediatr Urol ; 20(3): 483.e1-483.e8, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38458921

ABSTRACT

BACKGROUND: The accuracy of self-reported urinary incontinence (UI) and fecal incontinence (FI) among adults with spina bifida (SB) is unknown. We aimed to quantify the accuracy of self-reported recall incontinence in the last 4 weeks using prospective diary data. METHODS: Adults with SB were enrolled via patient advocacy groups in a larger 30-day smartphone-based ecological momentary assessment study of daily well-being and incontinence. We examined agreement between yes/no questions on exit questionnaires ("In the last 4 weeks, did you leak any urine and get your underwear, pads, pull-ups or disposable underwear wet?") and 30-day diaries. Collected data included a non-validated 4-item UI Negativity scale (UIN: 0-100, 0 = no impact). Inter-rater reliability was assessed with Cohen's kappa (>0.60 = substantial). FI was analyzed similarly. Sub-groups were too small for statistical analysis. RESULTS: Median age of 88 adults was 35 years old (70% female, 53% shunted, 71% community ambulators). Among 81 adults reporting UI in the last month, 79 (98%) had diary-documented UI (UI agreement), 2 (2%) did not (Summary Table). Among 7 adults reporting no UI in the last month, 5 (71%) did not record UI in their diaries (agreement in no UI), 2 (29%) did. Both adults reporting no UI on exit questionnaires, despite contrary diary data, experienced single UI episodes (negativity: 0 and 6). In contrast, the UI agreement group recorded UI on median 18 days (median negativity: 22). Sensitivity of the recall UI question was 0.98 (specificity 0.71, kappa 0.69). Among 66 adults reporting FI in the last month, 65 (98%) had diary-documented FI (FI agreement), 1 (2%) did not. Among 22 adults reporting no FI in the last month, 17 (77%) did not record FI in their diaries (agreement in no FI), 5 (23%) did. Five adults reporting no FI on exit questionnaires, despite contrary diary data, experienced a median single episode (median negativity: 8). In contrast, the FI agreement group recorded FI on median 5 days (median negativity: 31). Sensitivity of the recall FI question was 0.93 (specificity 0.94, kappa 0.81). Results were unchanged when analyzing the first and last 28 days of data. COMMENT: Sensitivity/specificity of single incontinence questions approach those reported for women with UI but without SB. Diaries may best serve SB adults with bothersome incontinence. CONCLUSIONS: Self-reported incontinence accurately and reliably captures UI and FI among adults with SB. It may minimize less bothersome incontinence, supporting its use in screening for clinical practice and research.


Subject(s)
Fecal Incontinence , Self Report , Spinal Dysraphism , Urinary Incontinence , Humans , Female , Male , Spinal Dysraphism/complications , Pilot Projects , Adult , Urinary Incontinence/etiology , Urinary Incontinence/diagnosis , Urinary Incontinence/physiopathology , Fecal Incontinence/etiology , Reproducibility of Results , Prospective Studies , Surveys and Questionnaires , Young Adult , Middle Aged
20.
Disabil Health J ; 17(3): 101617, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38531731

ABSTRACT

BACKGROUND: People with disabilities and chronic medical conditions are known to be at higher risk of sexual abuse (SA) and intimate partner violence (IPV). People with spina bifida (SB) are vulnerable, but little is known about the prevalence of abuse in this population. OBJECTIVE: To evaluate the prevalence and risk factors of SA and IPV in adults with SB. METHODS: An anonymous international cross-sectional online survey of adults with SB asked about history of SA ("sexual contact that you did not want") and IPV ("hit, slapped, kicked, punched or hurt physically by a partner"). RESULTS: Median age of the 405 participants (61% female) was 35 years. Most self-identified as heterosexual (85%) and were in a romantic relationship (66%). A total of 19% reported a history of SA (78% no SA, 3% preferred not to answer). SA was more frequently reported by women compared to men (27% vs. 5%, p < 0.001) and non-heterosexual adults compared to heterosexuals (41% vs. 15%, p < 0.001). Twelve percent reported a history of IPV (86% no IPV, 2% preferred not to answer). IPV was more frequently reported by women compared to men (14% vs. 9%, p = 0.02), non-heterosexuals compared to heterosexuals (26% vs. 10%, p = 0.002), and adults with a history of sexual activity versus those without (14% vs. 2%, p = 0.01). CONCLUSION: People with SB are subjected to SA and IPV. Women and non-heterosexuals are at higher risk of both.


Subject(s)
Disabled Persons , Intimate Partner Violence , Sex Offenses , Spinal Dysraphism , Humans , Female , Spinal Dysraphism/epidemiology , Male , Adult , Prevalence , Intimate Partner Violence/statistics & numerical data , Intimate Partner Violence/psychology , Cross-Sectional Studies , Sex Offenses/statistics & numerical data , Disabled Persons/statistics & numerical data , Disabled Persons/psychology , Risk Factors , Middle Aged , Young Adult , Surveys and Questionnaires , Sexual Partners , Adolescent , Heterosexuality/statistics & numerical data , Heterosexuality/psychology
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