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Nigerian Journal of Clinical Practice Apr 2024Tethered cord syndrome is a neurological disorder closely associated with congenital spinal dysraphism. Aberrant dorsal nerve roots may be one of the possible and...
Tethered cord syndrome is a neurological disorder closely associated with congenital spinal dysraphism. Aberrant dorsal nerve roots may be one of the possible and relatively rare tethering pathologies, especially in the complex form of occult spinal dysraphism such as caudal regression syndrome or split cord malformation. We report an illustrative case of caudal regression syndrome with spinal cord tethering due to a combination of a contiguous bundle of an aberrant dorsal nerve root, and a dorsal-type lipomyelomeningocele, with a thickened filum terminale treated with microneurosurgical untethering.
Topics: Humans; Male; Cauda Equina; Magnetic Resonance Imaging; Meningomyelocele; Neural Tube Defects; Spinal Cord; Spinal Nerve Roots; Infant
PubMed: 38679779
DOI: 10.4103/njcp.njcp_838_23 -
Journal of Anaesthesiology, Clinical... 2024The 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...
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.
PubMed: 38666156
DOI: 10.4103/joacp.joacp_254_22 -
Frontiers in Neuroscience 2024Neural tube defects (NTDs) is the most common birth defect of the central nervous system (CNS) which causes the death of almost 88,000 people every year around the...
BACKGROUND
Neural tube defects (NTDs) is the most common birth defect of the central nervous system (CNS) which causes the death of almost 88,000 people every year around the world. Much efforts have been made to investigate the reasons that contribute to NTD and explore new ways to for prevention. We trawl the past decade (2013-2022) published records in order to get a worldwide view about NTDs research field.
METHODS
7,437 records about NTDs were retrieved from the Web of Science (WOS) database. Tools such as shell scripts, VOSviewer, SCImago Graphica, CiteSpace and PubTator were used for data analysis and visualization.
RESULTS
Over the past decade, the number of publications has maintained an upward trend, except for 2022. The United States is the country with the highest number of publications and also with the closest collaboration with other countries. Baylor College of Medicine has the closest collaboration with other institutions worldwide and also was the most prolific institution. In the field of NTDs, research focuses on molecular mechanisms such as genes and signaling pathways related to folate metabolism, neurogenic diseases caused by neural tube closure disorders such as myelomeningocele and spina bifida, and prevention and treatment such as folate supplementation and surgical procedures. Most NTDs related genes are related to development, cell projection parts, and molecular binding. These genes are mainly concentrated in cancer, Wnt, MAPK, PI3K-Akt and other signaling pathways. The distribution of NTDs related SNPs on chromosomes 1, 3, 5, 11, 14, and 17 are relatively concentrated, which may be associated with high-risk of NTDs.
CONCLUSION
Bibliometric analysis of the literature on NTDs field provided the current status, hotspots and future directions to some extant. Further bioinformatics analysis expanded our understanding of NTDs-related genes function and revealed some important SNP clusters and loci. This study provided some guidance for further studies. More extensive cooperation and further research are needed to overcome the ongoing challenge in pathogenesis, prevention and treatment of NTDs.
PubMed: 38650623
DOI: 10.3389/fnins.2024.1293400 -
Clinical Case Reports Apr 2024Diastematomyelia, tethered cord, intradural extramedullary dermoid tumor and lipomyelomeningocele such disease entities themselves are rare in their own form and...
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.
PubMed: 38645607
DOI: 10.1002/ccr3.8783 -
Research Square Apr 2024Myelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24 hours of birth....
INTRODUCTION
Myelomeningocele (MMC) is the most common neural tube defect, but rarely seen in premature infants. Most centers advocate for closure of MMC within 24 hours of birth. However, this is not always possible in severely premature infants. Given the rarity of this patient population, we aimed to share our institutional experience and outcomes of severely premature infants with MMC.
METHODS
We performed a retrospective, observational review of premature infants (≤ 32 weeks gestational age) identified through our multidisciplinary spina bifida clinic (1995-2021) and surgical logs. Descriptive statistics were compiled about this sample including timing of MMC closure and incidence of adverse events such as sepsis, CSF diversion, meningitis, and death.
RESULTS
Eight patients were identified (50% male) with MMC who were born ≤ 32 weeks gestational age. Mean gestational age of the population was 27.3 weeks (SD 3.5). Median time to MMC closure was 1.5 days (IQR = 1 -80.8). Five patients were taken for surgery within the recommended 48 hours of birth; 2 patients underwent significantly delayed closure (107 and 139 days); and one patient's defect epithelized without surgical intervention. Six of eight patients required permanent cerebrospinal fluid (CSF) diversion (2 patients were treated with ventriculoperitoneal shunting (VPS), three were treated with endoscopic third ventriculostomy (ETV) with choroid plexus cauterization (CPC) and 1 patient treated with ETV; mean of 3 years after birth, ranging from 1 day to 16 years). Two patients required more than one permanent CSF diversion procedure. Two patients developed sepsis (defined as meeting at least 2/4 SIRS criteria), and 2 patients had intraventricular hemorrhage (both grade III). No patients developed meningitis (defined as positive CSF cultures) prior to MMC closure. Median follow up duration was 9.7 years. During this time epoch, 3 patients died: Two before 2 years of age of causes unrelated to surgical intervention. One of the two patients with grade III IVH died within 24 hours of MMC closure.
CONCLUSIONS
In our institutional experience with premature infants with MMC, some patients underwent delayed MMC closure. The overall rate of meningitis, sepsis, and mortality for preterm children with MMC was similar to MMC patients born at term.
PubMed: 38645257
DOI: 10.21203/rs.3.rs-4158288/v1 -
The Journal of Pharmacology and... Apr 2024One cannot survive without regularly urinating and defecating. People with neurological injury (spinal cord injury, traumatic brain injury, stroke) or disease (multiple...
One cannot survive without regularly urinating and defecating. People with neurological injury (spinal cord injury, traumatic brain injury, stroke) or disease (multiple sclerosis, Parkinson's disease, spina bifida) and many elderly are unable to voluntarily initiate voiding. The great majority of them require bladder catheters to void urine and "manual bowel programs" with digital rectal stimulation and manual extraction to void stool. Catheter-associated urinary tract infections frequently require hospitalization, while manual bowel programs are time-consuming (1-2 hours), stigmatizing, and cause rectal pain and discomfort. Laxatives and enemas produce defecation, but onset and duration are unpredictable, prolonged, and difficult to control, which can produce involuntary defecation and fecal incontinence. Patients with spinal cord injury (SCI) consider recovery of bladder and bowel function a higher priority than recovery of walking. Bladder and bowel dysfunction are a top reason for institutionalization of elderly. Surveys indicate that convenience, rapid onset and short duration, reliability and predictability, and efficient voiding are priorities of SCI individuals. Despite the severe, unmet, medical need; there is no literature regarding on-demand, rapid-onset, short-duration, drug-induced, voiding therapies. This article provides in depth discussion of recent discovery and development of two candidates for on-demand voiding therapies. The first, DTI-117, a neurokinin receptor agonist, induces both urination and defecation after systemic administration. The second, DTI-301, is a TRPV1 receptor agonist that induces defecation after intrarectal administration. The review also presents clinical studies of a combination drug therapy administered via iontophoresis and preclinical studies of neuromodulation devices that induce urination and defecation. Safe, effective, on-demand, rapid-onset, short-duration, drug-induced, voiding therapy could eliminate or reduce need for bladder catheters, manual bowel programs, and colostomies in patient populations that are unable to voluntarily initiate voiding. People with spinal injury place more importance on restoring bladder and bowel control than restoring their ability to walk. This paradigm-changing therapy would reduce stigmatism and healthcare costs while increasing convenience and quality of life.
PubMed: 38641354
DOI: 10.1124/jpet.123.002073 -
Disability and Health Journal Jul 2024Thanks to improved medical care, individuals with spina bifida (SB) live well into adulthood and go through the process of reproductive maturation and the development of...
BACKGROUND
Thanks to improved medical care, individuals with spina bifida (SB) live well into adulthood and go through the process of reproductive maturation and the development of sexual desires. However, access to reproductive counselling and contraceptive use has been reported to be lower for women with physical and intellectual disabilities compared to the general population.
OBJECTIVE
We investigated oral contraceptive use in women with SB, residing in Sweden and how use varies based on the level of lesion and demographic factors.
METHODS
This was a population-based case-control study using annual data from national registers from 2006 to 2015. The sample consisted of 7045 women aged 15-49 years, of which 1173 had a diagnosis of SB. χ tests and logistic regression were used to investigate the study objective.
RESULTS
The rate of oral contraceptive use in women with SB was 24.6 % compared to 34.5 % among the general population. After adjusting for potential confounders women with SB were found to have a lower probability of using oral contraceptives (OR 0.63 95 % CI 0.56-0.71) compared to women without SB. Among women with SB, those with diagnoses Q05.8 (Sacral SB without hydrocephalus) and Q05.9 (SB unspecified) had a higher likelihood of using oral contraceptives compared to other Q05 diagnoses.
CONCLUSION
Women with SB had a lower likelihood of being on oral contraceptives compared to the control group. Further research should investigate if the lower use indicates that oral contraceptives are not an inappropriate method of contraception for women with SB.
Topics: Humans; Female; Sweden; Spinal Dysraphism; Adult; Adolescent; Case-Control Studies; Young Adult; Middle Aged; Contraceptives, Oral; Contraception Behavior; Disabled Persons; Logistic Models; Registries; Contraception
PubMed: 38637232
DOI: 10.1016/j.dhjo.2024.101627 -
World Journal of Urology Apr 2024An abnormal lower urinary tract poses significant challenges for transplant surgeons. Besides the ureteral anastomosis to an ileal conduit, there are diverse complex...
PURPOSE
An abnormal lower urinary tract poses significant challenges for transplant surgeons. Besides the ureteral anastomosis to an ileal conduit, there are diverse complex reconstructive solutions. Due to its rarity, standardization and teaching of complex urinary diversion is extremely difficult.
METHODS
The indications and outcomes of complex urinary diversions after kidney transplantation (KT) were retrospectively investigated at eight urologic transplant centers including a current follow-up.
RESULTS
Of 37 patients with 21 (56%) males, vesicoureteral reflux (24%), spina bifida (22%), and glomerulonephritis (12%) were the most common causes of terminal renal failure. In 30 (81%) patients, urinary diversion was performed before KT, at a median of 107.5 (range, 10; 545) months before. Transplantations were held at a median patient age of 43 (10; 68) years, including six (16%) living donations. Urinary diversion was modified during 12 (32%) transplantations. After KT, the ileal conduit was the most common incontinent urinary diversion in 25 (67%) patients; a Mainz pouch I and bladder augmentation were the most frequent continent diversions (each n = 3). At a median follow-up of 120 months (range 0; 444), 12 (32%) patients had a graft failure with a 5-year graft survival of 79% (95%CI 61; 90). The median overall survival was 227 months (168; 286) and the 5-year overall survival 89% (69.3; 96.4).
CONCLUSION
The mid-term kidney transplant function with complex urinary diversion appears to be comparable to transplants with regular urinary diversions. Hence, complex urinary diversion should always be considered as a surgical option, even during transplantation, if necessary.
Topics: Female; Humans; Male; Kidney Transplantation; Plastic Surgery Procedures; Retrospective Studies; Surgeons; Urinary Diversion; Adult
PubMed: 38630278
DOI: 10.1007/s00345-024-04934-1