Biocellulose patch technique for fetoscopic repair of open spina bifida in twin pregnancy.

OBJECTIVES: Twin pregnancy is currently an exclusion criterion for prenatal repair of open spina bifida (OSB). The main objective of this study was to report on our experience of treating twin pregnancies with OSB using the skin-over-biocellulose for antenatal fetoscopic repair (SAFER) technique. We also discuss reconsideration of the current exclusion criteria for fetal OSB repair. METHODS: Eight fetuses with OSB from seven twin pregnancies underwent successful prenatal repair. Six pregnancies were dichorionic diamniotic with only one twin affected, and one was monochorionic diamniotic with both twins affected. Percutaneous fetoscopy was performed under CO2 insufflation of the sac of the affected twin. Neurosurgical repair was performed using a biocellulose patch to protect the placode, with the skin sutured to hold the patch in place, with or without a myofascial flap. Neurodevelopment was assessed using the pediatric evaluation of disability inventory scale in babies older than 6 months of adjusted age, whereas the Alberta scale was used for babies younger than 6 months of adjusted age. RESULTS: All 14 fetuses were liveborn and none required additional repair. Gestational age at surgery ranged from 27.3 to 31.1 weeks, and gestational age at birth ranged from 31.6 to 36.0 weeks. Four out of eight affected twins developed sepsis, but had a good recovery. No sequela of prematurity was found in any of the unaffected twins. Short-term neurodevelopment was normal in all evaluated unaffected twins (5/5) and in all but one affected twins (7/8). In the affected group, only one baby required ventriculoperitoneal shunt placement. CONCLUSIONS: Prematurity is frequent after fetal surgery, and the risk is increased in twin pregnancy. Nevertheless, prenatal surgery using the SAFER technique is feasible, with low risk to both twins and their mother when performed by a highly experienced team. Long-term cognitive assessment of the unaffected twin is needed. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Kidney Function Surveillance in the National Spina Bifida Patient Registry: A Retrospective Cohort Study.

PURPOSE: Chronic kidney disease affects 25% to 50% of patients with spina bifida. Guidelines recommend kidney function surveillance in these patients but practice patterns are unknown. Variations in kidney function surveillance were assessed in patients with spina bifida based on the hypothesis that the treating clinic and spina bifida type would be associated with kidney function surveillance. MATERIALS AND METHODS: A retrospective cohort study was conducted of U.S. patients in the National Spina Bifida Patient Registry from 2013 to 2018. Followup was anchored at the 2013 visit. Participants with either an outcome event within 2 years of followup or more than 2 years of followup without an outcome event were included. Primary outcome was kidney function surveillance, defined as at least 1 renal ultrasound and serum creatinine within 2 years of followup. Primary exposures were clinic and spina bifida type, which were analyzed with covariates including sociodemographic and clinical characteristics in logistic regression models for their association with the outcome. Sensitivity analyses were performed using different kidney function surveillance definitions. RESULTS: Of 8,351 patients 5,445 were included with a median followup of 3.0 years. Across 23 treating clinics kidney function surveillance rates averaged 62% (range 6% to 100%). In multivariable models kidney function surveillance was associated with treating clinic, younger patient age, functional lesion level, nonambulatory status and prior bladder augmentation. Treating clinic remained a significant predictor of kidney function surveillance in all sensitivity analyses. CONCLUSIONS: Within the National Spina Bifida Patient Registry wide variation exists in practice of kidney function surveillance across treating clinics despite adjustment for key patient characteristics.

Cervical myelomeningocele with CSF leakage: a case-based review.

BACKGROUND: The cystic spinal dysraphism of the cervical and upper thoracic region (CDCT) accounts for only 3.9 to 8% of spina bifida cystica lesions. The presence of external cerebrospinal fluid (CSF) leakage is infrequent and very few authors have reported about surgical complications. CASE REPORT: We present the case of a new born diagnosed of CDCT C1-C3 with a stalk of fibrovascular tissue, CSF leakage, hydrocephalus, and type Chiari II malformation, discuss about the chosen surgical technique and the associated complications, and make a review of the literature focusing on the main aspects of CDCT. CONCLUSIONS: The CDCT with a stalk of neuroglial and/or fibrovascular tissue originates from the dorsal surface of the spinal cord and penetrates into a cervical cystic sac. The presence of CSF leakage, hydrocephalus, and/or type Chiari II malformation can influence to decide the most appropriate surgical technique.

Intracranial infection in patients with myelomeningocele: profile and risk factors.

PURPOSE: To describe the profile and determine the risk factors for the development of intracranial infections (ICI) in paediatric patients with myelomeningocele (MMC). METHODS: Retrospective analysis of data from the records of patients with MMC admitted into our hospital between January 2006 and December 2015. RESULTS: We managed a total of 688 paediatric non-trauma neurosurgical patients in our facility during the study period. 29.4% of these patients had MMC. We found the records for 49% of the patients. The male: female ratio was 1.3:1. Most of the MMCs were located in the lumbosacral region (71.7%). The lesion was ruptured in 42.4%, unruptured in 53.5%, and indeterminate in 4.0% of the patients. 48.5% of the MMCs were infected at presentation. Surgical repair of the spinal dysraphism was performed in 74.7% of the patients. Postoperative complications observed in our series include wound dehiscence, cerebrospinal fluid leak, and pseudomeningocele which occurred in 13.5%, 12.2%, and 2.7% of the operated cases of MMC respectively. 28.3% of the patients with MMC developed ICI during the course of hospitalization. 71.4% of patients with MMC-associated ICI had septic neural placode at the initial clinical evaluation. 70% of the patients who had wound dehiscence post-operatively developed ICI. Loculations and abscesses occurred only in patients who had surgical repair. A multivariate logistic regression analysis revealed that septic neural placode, hydrocephalus, a supra-lumbar location of the MMCs and surgical intervention were predictive of ICI (p < 0.05). CONCLUSION: Infection of the neural placode, hydrocephalus, locations of the lesions above the lumbar region, and surgical repair were the statistically significant risk factors for ICI in our study population. The trending but statistically insignificant risk factors for ICI in our series may require further assessment with a larger sample size.

[Spina bifida]. / Spina bifida.

Spina bifida is a congenital disorder with incomplete closure of the spinal column due to a bony vertebral defect. The term spina bifida literally means cleft spine and is used as a generic term of spinal dysraphism (Greek: Raphe = seam). It is a midline defect that occurs during the embryonic period. The insufficient closure of one or more vertebral arches is the result of an incomplete junction of the neural tube. Depending on the extent of the neural tube defect, various types of spina bifida can be differentiated. Closed spinal dysraphisms, also known as spina bifida occulta, are solely characterized by a bony defect of the vertebral arch, whereas, spina bifida cystica (synonym: open spina bifida or spina bifida aperta) can be distinguished by a protruding cyst, containing either meninges or meninges in combination with spinal cord tissue and are defined as open spinal dysraphisms.

Incidence and type of foot deformities in patients with spina bifida according to level of lesion.

AIM: The previously suggested association between the incidence of high-level foot deformity and muscle imbalance is no longer supported, when evaluated independent from motor and sensory loss and level of lesion, by current studies. The purpose of this study was to evaluate the association between level of lesion and foot deformity. METHODS: Of 545 patients, a total of 136 (272 feet) patients admitted to the spina bifida clinic between 2010 and 2014 were included in this study. Levels of all lesions were evaluated using initial operation data, the motor-sensory exams, and direct radiography. All patients were categorized into four different groups: Thoracic region (group 1), high-level lumbar-L1-2 region (group 2), mild and lower lumbar regions (L3-4-5) (group 3), and Sacral region (group 4). RESULTS: The mean follow-up time was 34.9 months (range 8-176 months). Group 1, group 2, group 3, and group 4 included 24 (17.6%), 14 (10.3%), 19 (14%), and 79 (58.1%) patients with regards to level of lesion, respectively. The incidences of foot deformity were 85.4, 85.7, 81.5, and 50.6% in groups 1, 2, 3, and 4, respectively. Of all patients, 22% (61 feet) had clubfoot, 16% (44 feet) pes cavus, 10% (26 feet) pes valgus, 6% (17 feet) isolated equinus, 6 % (17 feet) pes calcaneus, and 5% (13 feet) metatarsus adductus. Patients without a foot deformity (81% of normal feet) usually had a lesion at the sacral level (p ≤ 0.05). On the other hand, isolated equinus (70%) and clubfoot (49%) deformities were mostly observed in spinal lesions (p > 0.05). The incidence of pes calcaneus, pes valgus, and adductus deformities inclined as the lesion level decreased (p > 0.05). CONCLUSION: In this study, it was concluded that foot deformities were directly related to the level of lesion. The comparison of higher and lower level lesions revealed that the types of foot deformity differed significantly. The muscle imbalance due to spina bifida was not sufficient to explain the pathology. On the other hand, the level of spinal lesion is an important factor for the type of deformity.

Autologous cell seeded biodegradable scaffold for augmentation cystoplasty: phase II study in children and adolescents with spina bifida.

PURPOSE: Augmentation cystoplasty using gastrointestinal segments in children/adolescents with medically refractory neurogenic bladder is associated with significant complications. We evaluated an autologous cell seeded biodegradable scaffold (Tengion®) for bladder augmentation as an alternative to traditional enterocystoplasty in this population. MATERIALS AND METHODS: A phase II prospective study was performed in children with neurogenic bladder due to spina bifida requiring enterocystoplasty for detrusor pressure 40 cm H2O or greater despite maximum antimuscarinic medication. Following open bladder biopsy, urothelial and smooth muscle cells were grown ex vivo and seeded onto a biodegradable scaffold to form a regenerative augment as the foundation for bladder tissue regeneration. Bladder neck sling was the only concomitant surgical procedure permitted. Bladders were cycled postoperatively to promote regeneration. Primary and secondary outcomes at 12 months included change in bladder compliance, bladder capacity and safety. Long-term assessment was done with similar outcomes at 36 months. RESULTS: Compliance improved in 4 patients at 12 months and in 5 patients at 36 months, although the difference was not clinically or statistically significant. There was no clinical or statistical improvement in bladder capacity at 12 or 36 months in any patient. Adverse events occurred in all patients, and most were easily treated. Two patients had low cell growth following bladder biopsy, of whom 1 withdrew from the study and 1 underwent a second biopsy. Serious adverse events of bowel obstruction and/or bladder rupture occurred in 4 patients. CONCLUSIONS: Our autologous cell seeded biodegradable scaffold did not improve bladder compliance or capacity, and our serious adverse events surpassed an acceptable safety standard.

The prevalence and risk factors for foot pressure ulcers in ambulatory pediatric patients with spina bifida.

AIM: To determine prevalence, incidence and risk factors for foot pressure ulcers in ambulatory children with spina bifida. METHOD: Retrospective cohort study of 72 ambulatory children (age range 0-23.9 years) with spina bifida treated at a pediatric tertiary care facility. Data on foot pressure ulcers were recorded and analyzed to determine prevalence, incidence and predictive factors. RESULTS: Foot pressure ulcers occurred in 50/143 limbs (35%) over 10.5 ± 3.5 years. Average incidence was 0.10 foot pressure ulcer incidents per person-year, and prevalence in years with complete follow-up was 8.8%. Prevalence was related to age [higher for ages 11-15 (17%), than ages 0-10 (5%) and 16+ years (7%), p < 0.0001], and varus/valgus foot deformities (p < 0.001) and brace use (0.32 risk difference, p = 0.01), but not with standing foot position, deformity rigidity, body mass index, spina bifida type, lesion level, ambulatory level or co-morbidities. Most common sites were the heel (21/96, 22%), lateral malleolus (12/96, 13%), and plantar 5th metatarsal head (11/96, 12%). CONCLUSION: Foot pressure ulcers occur in nearly 1 out of 10 ambulatory children with spina bifida, most often in pre-teens or young teen-agers with foot deformities, who use braces. This information can help direct skin care education and prevention to those most vulnerable.Implications for RehabilitationFoot pressure ulcers occur in children and adolescents with spina bifida, most commonly in those aged 11-15 years, with foot deformities and who use braces.Ulcer development was unrelated to stiffness of foot deformity, body mass index, lesion or functional level, or presence of comorbidities such as Arnold-Chiari malformation, syringomyelia or shunted hydrocephalus.Skin care education and preventative measures should be provided to all patients, but with particular emphasis for those with these risk factors.

Cannabis Consumption Patterns Explain the East-West Gradient in Canadian Neural Tube Defect Incidence: An Ecological Study.

While a known link between prenatal cannabis exposure and anencephaly exists, the relationship of prenatal cannabis exposure with neural tube defects (NTDs) generally has not been defined. Published data from Canada Health and Statistics Canada were used to assess this relationship. Both cannabis use and NTDs were shown to follow an east-west and north-south gradient. Last year cannabis consumption was significantly associated (P < .0001; cannabis use-time interaction P < .0001). These results were confirmed when estimates of termination for anomaly were used. Canada Health population data allowed the calculation of an NTD odds ratio) of 1.27 (95% confidence interval = 1.19-1.37; P < 10-11) for high-risk provinces versus the remainder with an attributable fraction in exposed populations of 16.52% (95% confidence interval = 12.22-20.62). Data show a robust positive statistical association between cannabis consumption as both a qualitative and quantitative variable and NTDs on a background of declining NTD incidence. In the context of multiple mechanistic pathways these strong statistical findings implicate causal mechanisms.

Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences.

INTRODUCTION: Spinal dysraphism occurs due to failure of fusion of parts along dorsal aspect of midline structures lying along spinal axis from skin to vertebrae and spinal cord. Congenital spinal anomalies may be minimal and asymptomatic like spinal bifida occulta, or severe with marked neurological deficits like Arnold-Chiari malformation or caudal regression syndrome. Magnetic Resonance Imaging (MRI) is the modality of choice to diagnose mild to severe spinal dysraphism. AIM: To diagnose type and extent of clinically suspected spinal anomalies by MRI scan and to compare various sequences for identifying neural tissue and fatty tissue in anomalies. MATERIALS AND METHODS: Fifty paediatric patients referred with clinical suspicion of spinal anomalies for MRI scan to radiodiagnosis department and diagnosed as having spinal dysraphism on 1.5 Tesla MRI Scan, were included in this observational analytic study. Various MRI sequences were taken in multiple planes. MRI findings of spinal dysraphism were compared with detailed clinical examination or surgical findings. Osseous anomalies like spina bifida occulta were confirmed by radiographs or CT scan. RESULTS: Out of 50 patients, type II Arnold-Chiari Malformation (34%), Spina Bifida Occulta (22%) and Diastematomyelia (18%) were common anomalies. MRI findings were well correlated with surgical findings in 20 operated cases. Nerve roots with/ without neural placode in thecal sac/outpouching were detected in combination of 3D HASTE myelographic sequence with SE/ TSE T1W sequence in 24 cases; which was significantly high as compared to combinations of SE/TSE T1W sequence with TSE T2W, with STIR and with Single Shot Myelographic sequence {p-value 0.002, < 0.001 and 0.008 respectively}. Fatty component was present in dysraphism in five cases, commonly as isolated anomaly; which was detected by combination of STIR and SE/TSE T1W sequences in all five cases. CONCLUSION: Paediatric spinal dysraphism and associated malformations are accurately diagnosed on MRI scan. MR myelographic 3D-HASTE and STIR sequences should be a part of protocol to evaluate spinal dysraphism.

Técnica com retalho muscular duplo e fasciocutâneo na correção de úlceras isquiáticas por pressão / Technique with double muscle and fasciocutaneous flap in the correction of sciatic pressure ulcers

Úlceras por pressão são lesões ocasionadas na pele e tecidos subjacentes devido à força de pressão local, geralmente em pontos de proeminências ósseas. Cita-se aqui o caso de uma paciente acamada devido à lesão medular por mielomeningocele que evoluiu com úlcera em região isquiática à direita, tratada com técnica de retalhos muscular e fasciocutâneo de face posterior da coxa. Por ser lesão rotineiramente encontrada nesses pacientes portadores de limitações funcionais, é fundamental a realização de tratamentos adequados que visem a melhora clínica do paciente e minimizar índice de recidivas. Além disso, é de suma importância a implementação de novas técnicas cirúrgicas, haja vista a enorme variedade de lesões por pressão

Pressure ulcers are injuries to the skin and underlying tissues due to local pressure force, usually at points of bony prominence. We mention here the case of a bedridden patient due to a spinal cord injury caused by myelomeningocele that evolved with an ulcer in the right sciatic region, treated with the muscle flap and fasciocutaneous flap technique of the posterior thigh. As it is a lesion routinely found in these patients with functional limitations, it is essential to carry out appropriate treatments aimed at improving the patients clinical condition and minimizing the rate of recurrences. In addition, the implementation of new surgical techniques is of utmost importance, given the enormous variety of pressure injuries

Magnesium-permeable TRPM6 polymorphisms in patients with meningomyelocele.

BACKGROUND: To evaluate whether there is an association between single nucleotide polymorphisms in magnesium-permeable TRPM6 ion channel and development of meningomyelocele (MMC). Therefore, we examined a total of 150 children with MMC, along with age- and gender-matched controls. DNA collected from whole blood was analyzed for the presence of two polymorphisms, rs2274924 (A > G; K1579E; Leu1579Glu) and rs3750425 (G > A; Val1393Ile), in TRPM6. Serum Mg2+ and calcium levels were also examined. RESULTS: A statistically significant difference in the distribution of rs2274924 genotypes (p = 0.049) was observed between the groups. Decreases in the AA genotype, and increases in the AG heterozygous genotype were also detected in the study group. The distribution of polymorphisms in the rs3750425 genotype and alleles was not statistically different between groups. Serum Mg2+ levels were lower in the GG genotype of rs3750425 compared with the GA and AA genotypes (p = 0.003). CONCLUSIONS: A statistically significant difference in rs3750425 genotypes was observed between the patients with MMC and the controls, which corresponded to lower serum Mg2+ concentrations in these patients. Taken together, these results suggest that genetic variations in the Mg2+-permeable TRPM6 ion channel may play a role in the etiopathogenesis of MMC during embryonic development.

Use of dermal regeneration template to close a giant myelomeningocele in a newborn.

Many techniques are available to close a myelomeningocele, but large lesions can be particularly difficult to close given the absence of surrounding tissue. The authors present the case of a 2-day-old girl with a large lumbosacral myelomeningocele who underwent a staged repair using dermal regeneration template (DRT; Integra) followed by split-thickness skin grafting. The results demonstrated that the combined use of myofascial turnover flaps and DRT with delayed skin grafting is a safe, effective option for this challenging reconstructive dilemma.