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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 -
Journal of Orthopaedic Case Reports May 2024Spina bifida is a rare neurological condition that, if uncorrected, may cause chronic valgus knee stress difficulty with independent ambulation and significant pain....
INTRODUCTION
Spina bifida is a rare neurological condition that, if uncorrected, may cause chronic valgus knee stress difficulty with independent ambulation and significant pain. Current literature lacks comprehensive guidance on surgically correcting progressive hip and knee deformities in spina bifida patients, which include osteotomy and primary. When these options are contraindicated, alternative approaches such as arthrodesis may be indicated, although they remain understudied in this population.
CASE REPORT
A 47-year-old man presented with bilateral hip and knee pain. Radiographs demonstrated valgus knee deformities with severe arthrosis and bilateral femoral head subluxation. The patient had a history of spina bifida with chronic lower extremity weakness and neurogenic bladder. He underwent staged bilateral instrumented knee arthrodesis and staged bilateral total hip arthroplasty (THA).
CONCLUSION
This is the first reported case of bilateral instrumented knee arthrodesis in a patient with spina bifida. Orthopedic care of these patients is complex. Surgical correction of symptomatic knee and hip deformities through instrumented arthrodesis and THA may permit an improved functional outcome.
PubMed: 38784872
DOI: 10.13107/jocr.2024.v14.i05.4440 -
Heliyon May 2024This study was aimed to investigate the learning experiences' facilitators and barriers that is encountered by the physically disabled female students during their...
This study was aimed to investigate the learning experiences' facilitators and barriers that is encountered by the physically disabled female students during their higher education. Twenty semi-structured interviews were conducted with female students with physical disabilities aged between 19 and 33 years. Interviews were transcribed, confirmed, and analyzed after being recorded. The average age of the sample was 22.15 ± 3.48 years and one-fourth of the participants' disability was due to cerebral palsy and 35% participants used wheelchairs. All the factors promoted inclusive education and equal opportunities for both disabled and nondisabled students. This study reveals that in order to improve the learning experiences of students with disabilities (SwD) and to give them more opportunities for success, it is important to consider all the barriers discussed in this study. It can be concluded that high effort is required to transform the higher educational institutions to be more accommodating for students with disabilities.
PubMed: 38765040
DOI: 10.1016/j.heliyon.2024.e30774 -
BMJ Open May 2024To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube...
OBJECTIVE
To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube defects during Pradhan Mantri Surakshit Matritva Abhiyan sessions.
DESIGN
A population-based cross-sectional study with a household survey for neural tube defects using pictorial card as well as a hospital-based study for antenatal ultrasonography data.
SETTING
The sample population was selected through multistage random sampling. In the first stage, one district from each zone was selected randomly. In the second stage, using simple random sampling, one community health centre and one urban primary health centre were selected from each district. In the third stage, the population from a block and ward were picked from the selected rural and urban settings, respectively.
PARTICIPANTS
All married women in the reproductive age group (18-49 years) residing in these cluster villages in the selected districts were enrolled.
RESULTS
The study surveyed 49 215 women and recorded 50 196 birth outcomes, including 49 174 live births, 890 stillbirths and 132 medical terminations of pregnancy. A total of 30 neural tube defect cases were detected. The overall prevalence rate of neural tube defect was 0.59 per 1000 birth outcomes. Spina bifida was the most prevalent neural tube defect with the prevalence of, followed by anencephaly and encephalocele. Despite 26 860 mothers receiving antenatal ultrasonography Pradhan Mantri Surakshit Matritva Abhiyan session, data on neural tube defects and other birth defects detected through these scans is unavailable.
CONCLUSION
This study found a low prevalence of neural tube defect in Odisha, which is far lower compared with the older studies from India. There is an urgent need to strengthen the quality of antenatal care services provided under Pradhan Mantri Surakshit Matritva Abhiyan through better training regarding anomaly scans and better data keeping at public healthcare facilities.
TRIAL REGISTRATION NUMBER
CTRI/2021/06/034487.
Topics: Humans; Cross-Sectional Studies; Female; India; Pregnancy; Adult; Neural Tube Defects; Prevalence; Young Adult; Adolescent; Middle Aged; Ultrasonography, Prenatal; Anencephaly; Encephalocele; Spinal Dysraphism
PubMed: 38760039
DOI: 10.1136/bmjopen-2023-083057 -
Surgical Neurology International 2024Intracranial lipomas are a rare clinical entity. These lesions are frequently asymptomatic and originate in the pericallosal area. As they are fat-containing lesions...
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.
PubMed: 38741980
DOI: 10.25259/SNI_165_2024 -
Indian Journal of Urology : IJU :... 2024This narrative review discusses the relationship between anticholinergic medications and cognitive change specifically in patients with neurogenic lower urinary tract... (Review)
Review
This narrative review discusses the relationship between anticholinergic medications and cognitive change specifically in patients with neurogenic lower urinary tract dysfunction (NLUTD). NLUTD is prevalent in various conditions, including spinal cord injury (SCI), spina bifida (SB), multiple sclerosis (MS), Parkinson's, stroke, and dementia and often requires anticholinergic overactive bladder (OAB) medications. In the general population, and among those with OAB, several studies have found a significant association between this class of medications and cognitive side effects, mostly when used for > 90 days. These cognitive side effects may be particularly relevant to people with NLUTD due to their higher baseline risk of cognitive impairment. Two studies (one in people with SCI and another in MS) found evidence of cognitive impairment with the use of OAB anticholinergics (specifically oxybutynin and tolterodine). People with dementia commonly use OAB anticholinergics, and there is evidence that oxybutynin and tolterodine may impair cognition in this population. Two recent studies in children with SB studied 12 months of solifenacin and 6 months of fesoterodine/oxybutynin and found there was no significant change in neuropsychological testing. Clinical studies in people with Parkinson's disease and prior stroke have not shown that trospium, darifenacin, or fesoterodine have a significant impact on cognitive measures. In summary, oxybutynin and tolterodine may pose a higher risk of cognitive impairment than newer OAB anticholinergics in people with NLUTD; there is no evidence that children with SB experience cognitive impairment with OAB anticholinergics. Further study is necessary to confirm cognitive safety, particularly as the NLUTD population may have a high exposure to OAB anticholinergics. Advocating for potentially safer OAB medications is necessary if there is concern about cognitive risks.
PubMed: 38725892
DOI: 10.4103/iju.iju_352_23 -
Computer Methods and Programs in... Jun 2024Surgical robotics tends to develop cognitive control architectures to provide certain degree of autonomy to improve patient safety and surgery outcomes, while decreasing...
BACKGROUND AND OBJECTIVE
Surgical robotics tends to develop cognitive control architectures to provide certain degree of autonomy to improve patient safety and surgery outcomes, while decreasing the required surgeons' cognitive load dedicated to low level decisions. Cognition needs workspace perception, which is an essential step towards automatic decision-making and task planning capabilities. Robust and accurate detection and tracking in minimally invasive surgery suffers from limited visibility, occlusions, anatomy deformations and camera movements.
METHOD
This paper develops a robust methodology to detect and track anatomical structures in real time to be used in automatic control of robotic systems and augmented reality. The work focuses on the experimental validation in highly challenging surgery: fetoscopic repair of Open Spina Bifida. The proposed method is based on two sequential steps: first, selection of relevant points (contour) using a Convolutional Neural Network and, second, reconstruction of the anatomical shape by means of deformable geometric primitives.
RESULTS
The methodology performance was validated with different scenarios. Synthetic scenario tests, designed for extreme validation conditions, demonstrate the safety margin offered by the methodology with respect to the nominal conditions during surgery. Real scenario experiments have demonstrated the validity of the method in terms of accuracy, robustness and computational efficiency.
CONCLUSIONS
This paper presents a robust anatomical structure detection in present of abrupt camera movements, severe occlusions and deformations. Even though the paper focuses on a case study, Open Spina Bifida, the methodology is applicable in all anatomies which contours can be approximated by geometric primitives. The methodology is designed to provide effective inputs to cognitive robotic control and augmented reality systems that require accurate tracking of sensitive anatomies.
Topics: Humans; Robotic Surgical Procedures; Neural Networks, Computer; Algorithms; Spinal Dysraphism; Image Processing, Computer-Assisted; Robotics; Augmented Reality
PubMed: 38703719
DOI: 10.1016/j.cmpb.2024.108201 -
Experimental Cell Research May 2024Prenatal surgery for the treatment of spina bifida (myelomeningocele, MMC) significantly enhances the neurological prognosis of the patient. To ensure better protection...
Prenatal surgery for the treatment of spina bifida (myelomeningocele, MMC) significantly enhances the neurological prognosis of the patient. To ensure better protection of the spinal cord by large defects, the application of skin grafts produced with cells gained from the amniotic fluid is presently studied. In order to determine the most appropriate cells for this purpose, we tried to shed light on the extremely complex amniotic fluid cellular composition in healthy and MMC pregnancies. We exploited the potential of micro-Raman spectroscopy to analyse and characterize human amniotic fluid cells in total and putative (cKit/CD117-positive) stem cells of fetuses with MMC in comparison with amniotic fluid cells from healthy individuals, human fetal dermal fibroblasts and adult adipose derived stem cells. We found that (i) the differences between healthy and MMC amniocytes can be attributed to specific spectral regions involving collagen, lipids, sugars, tryptophan, aspartate, glutamate, and carotenoids, (ii) MMC amniotic fluid contains two particular cell populations which are absent or reduced in normal pregnancies, (iii) the cKit-negative healthy amniocyte subpopulation shares molecular features with human fetal fibroblasts. On the one hand we demonstrate a different amniotic fluid cellular composition in healthy and MMC pregnancies, on the other our work confirms micro-Raman spectroscopy to be a valuable tool for discriminating cell populations in unknown mixtures of cells.
PubMed: 38697275
DOI: 10.1016/j.yexcr.2024.114048 -
Einstein (Sao Paulo, Brazil) 2024To report the need for cord untethering after prenatal repair of open spina bifida using a unique biocellulose-based technique performed at a later gestational age. (Observational Study)
Observational Study
OBJECTIVE
To report the need for cord untethering after prenatal repair of open spina bifida using a unique biocellulose-based technique performed at a later gestational age.
METHODS
An observational cohort study was conducted to determine the incidence of tethered cord syndrome. Between May 2013 and May 2022, we performed 172 procedures using the percutaneous fetoscopic approach in fetuses at 26-28 weeks of gestation. After placode dissection, a biocellulose patch was placed to cover the placode, a myofascial flap (when possible) was dissected, and the skin was closed. Owing to death or loss to follow-up, 23 cases were excluded. Cord tethering syndrome was defined as symptoms of medullary stretching, and the infants were evaluated and operated on by local neurosurgeons after an magnetic resonance imaging examination. Infants over 30-month had ambulation and neurodevelopment evaluations (PEDI scale).
RESULTS
Among 172 cases operated at a median gestational age of 26.7 weeks and delivered at 33.2 weeks, 149 cases were available for postnatal follow-up, and cord untethering was needed in 4.4% of cases (6/136; excluding 13 cases younger than 12 months). Cerebrospinal fluid diversion and bladder catheterization were needed in 38% and 36% of cases, respectively. Of the 78 cases evaluated at 30 months, 49% were ambulating independently, and 94% had normal social function.
CONCLUSION
The biocellulose-based technique was associated with a low rate of cord tethering, wich may be attributed to the lack of the duramater suture during prenatal repair, the formation of a neoduramater and/or later gestational age of surgery.
Topics: Humans; Female; Gestational Age; Pregnancy; Fetoscopy; Spina Bifida Cystica; Treatment Outcome; Infant, Newborn; Neural Tube Defects; Magnetic Resonance Imaging; Male; Adult; Infant; Cohort Studies
PubMed: 38695415
DOI: 10.31744/einstein_journal/2024AO0557