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1.
Niger J Clin Pract ; 27(4): 537-540, 2024 Apr 01.
Article En | MEDLINE | ID: mdl-38679779

ABSTRACT: 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.


Meningomyelocele , Neural Tube Defects , Humans , Meningomyelocele/complications , Meningomyelocele/surgery , Neural Tube Defects/complications , Neural Tube Defects/surgery , Spinal Nerve Roots/abnormalities , Male , Magnetic Resonance Imaging , Female , Spinal Cord/abnormalities , Cauda Equina/abnormalities
2.
Kurume Med J ; 68(3.4): 251-254, 2023 Sep 25.
Article En | MEDLINE | ID: mdl-37302848

Anatomical variations of the spinal cord are seen in many manifestations; one rare variant that does not stem from a neural tube defect is known as a split cord malformation (SCM). In this variation, a deviation from normal development causes the spinal cord to divide into two hemicords, typically in the lumbar region. In the case described here, a SCM was observed with large, bilateral, radiculopial arteries. To our knowledge, such large vessels in conjunction with a SCM has not previously been documented in the literature. Such variants could be problematic during surgical approaches to the lumbar spine. Herein, we report the case and discuss the development of the findings with relevant clinical applications.


Magnetic Resonance Imaging , Spinal Cord , Humans , Spinal Cord/abnormalities , Spinal Cord/surgery , Spine/abnormalities , Arteries
3.
J Pediatr Surg ; 58(8): 1582-1587, 2023 Aug.
Article En | MEDLINE | ID: mdl-37248140

BACKGROUND/RATIONALE: Anorectal malformations (ARM) are associated with congenital anomalies of the spine, but the impact of a minor spinal cord dysraphism (mSCD) on fecal continence in the setting of ARM remains unclear. MATERIALS/METHODS: A retrospective review was performed utilizing data from the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. The patient cohort was reviewed for ARM type, mSCD screening/incidence/neurosurgical intervention and age-based BMP utilization. RESULTS: 987 patients with ARM were categorized into mild (38%), moderate (32%) or complex (19%). 694 (70%) had normal spinal (NS) status. 271 (27.5%) patients had mSCD. MRI alone (49%) was the most common screening test for mSCD. US screening had a positive predictive value of 86.3% and a negative predictive value of 67.1%. Surgical intervention rates for mSCD ranged between 13% and 77% at a median age of 0.6-5.2 years. 726 (73.6%) patients were prescribed BMP (74.4% NS, 77.5% mSCD). Laxatives were most utilized BMP in all groups <5yo. ≥5yo, enema utilization increased with ARM complexity independent of spine status (with or without neurosurgical intervention). Neurosurgical intervention did not affect BMP utilization at any age or with any ARM when mSCD was identified. CONCLUSIONS: MSCD influence on bowel function in the setting ARM remains unclear. No significant impact of mSCD was noted on ARM patient bowel management program utilization. Variability exists within PCPLC site with screening and intervention for mSCD in patients with ARM. Future studies with standardized care may be needed to elucidate the true impact of mSCD on long term patient outcomes in ARM patients. TYPE OF STUDY: Retrospective Comparative Study. LEVEL OF EVIDENCE: III.


Anorectal Malformations , Colorectal Neoplasms , Heart Defects, Congenital , Neural Tube Defects , Spinal Dysraphism , Child , Humans , Infant , Child, Preschool , Anorectal Malformations/complications , Anorectal Malformations/diagnosis , Anorectal Malformations/therapy , Retrospective Studies , Spinal Dysraphism/complications , Spinal Dysraphism/diagnosis , Spinal Dysraphism/therapy , Neural Tube Defects/complications , Neural Tube Defects/diagnosis , Neural Tube Defects/surgery , Spinal Cord/abnormalities , Heart Defects, Congenital/complications , Colorectal Neoplasms/complications
4.
Medicina (Kaunas) ; 59(4)2023 Apr 07.
Article En | MEDLINE | ID: mdl-37109684

The frequency of split cord malformation (SCM) is approximately 1 in 5000 births; however, patients are rarely diagnosed with SCM in the neonatal period. Moreover, there have been no reports of SCM with hypoplasia of the lower extremities at birth. A 3-day-old girl was transferred to our hospital for a thorough examination of hypoplasia of the left lower extremity and lumbosacral abnormalities detected after birth. The spinal magnetic resonance imaging (MRI) revealed a split spinal cord in a single dural tube. Based on the MRI findings, the patient was diagnosed with SCM type II. Following discussions with the parents, pediatricians, neurosurgeons, psychologists, and social workers, we decided to perform untethering to prevent further neurological impairment after achieving a sufficient body weight. The patient was discharged on day 25 of life. Early diagnosis and intervention may improve the neurological prognosis in terms of motor function, bladder and bowel function, and superficial sensation; thus, clinicians should report infrequent findings that may lead to SCM diagnosis. SCM should be differentiated in patients with left-right differences in the appearance of the lower extremity, particularly in those with lumbosacral abnormalities.


Neural Tube Defects , Spinal Cord , Infant, Newborn , Female , Humans , Spinal Cord/abnormalities , Neural Tube Defects/complications , Neural Tube Defects/diagnosis , Spine , Magnetic Resonance Imaging , Lower Extremity
5.
Pediatr Surg Int ; 39(1): 153, 2023 Mar 19.
Article En | MEDLINE | ID: mdl-36934393

PURPOSE: First, to assess the number of spinal cord anomalies (SCA), specifically tethered spinal cord (TSC) in patients with anorectal malformations (ARM), identified with spinal cord imaging (i.e. spinal cord US and/or MRI). Second, to report outcomes after TSC treatment. METHODS: A retrospective mono-center study was performed. All ARM patients born between January 2000 and December 2021 were included. Screening for SCA consisted of spinal cord US and/or MRI. Radiology reports were scored on presence of SCA. Data were presented with descriptive statistics. RESULTS: In total, 254 patients were eligible for inclusion, of whom 234 (92.1%) underwent spinal cord imaging. In total, 52 (22.2%) patients had a SCA, diagnosed with US (n = 20, 38.5%), MRI (n = 10, 19.2%), or both US and MRI (n = 22, 42.3%), of whom 12 (23.5%) with simple, 27 (52.7%) intermediate, and 12 (23.5%) complex ARM types. TSC was identified in 19 patients (8.1%), of whom 4 (21.1%) underwent uncomplicated neurosurgical intervention. CONCLUSIONS: SCA were present in 22% of ARM patients both in simple, as well as more complex ARM types. TSC was present in 19 patients with SCA, of whom 4 underwent uncomplicated neurosurgical intervention. Therefore, screening for SCA seems to be important for all ARM patients, regardless of ARM type. LEVEL OF EVIDENCE: Level III.


Abnormalities, Multiple , Anorectal Malformations , Humans , Child , Anorectal Malformations/epidemiology , Retrospective Studies , Magnetic Resonance Imaging , Spinal Cord/diagnostic imaging , Spinal Cord/abnormalities
6.
World Neurosurg ; 171: 145-147, 2023 Mar.
Article En | MEDLINE | ID: mdl-36649856

We present a rare case of chronic hydrocephalus and tethered cord syndrome in a high-functioning asymptomatic college student. Her presentation was triggered by a fall, at which time, she developed subacute symptoms consistent with progressive increased intracranial pressure. After endoscopic third ventriculostomy for hydrocephalus, the patient presented with progressive bilateral lower extremity and sphincter symptoms, leading to spinal imaging and diagnosis of tethered cord syndrome with fatty filum. The patient was treated with tethered cord release and had a favorable long-term outcome. This case highlights the innocuous onset of 2 congenital diagnoses in adulthood seemingly associated with a mild traumatic injury. Furthermore, it shows classic imaging findings associated with chronic increased intracranial pressure, aqueductal stenosis, and tethered cord syndrome (preoperative and postoperative appearances), which serve an important educational role given the relate rarity of these coexisting diseases in adults.


Hydrocephalus , Intracranial Hypertension , Neural Tube Defects , Spina Bifida Occulta , Humans , Adult , Female , Neural Tube Defects/surgery , Hydrocephalus/complications , Spine , Diagnostic Imaging , Intracranial Hypertension/complications , Spina Bifida Occulta/surgery , Spinal Cord/abnormalities
7.
Clin Spine Surg ; 36(4): E160-E166, 2023 05 01.
Article En | MEDLINE | ID: mdl-36174203

STUDY DESIGN: Retrospective case series. OBJECTIVE: To evaluate the safety and efficacy of spine-shortening using 1-stage 3-column osteotomy for a severe rigid spinal deformity with a spinal cord malformation (SCM). SUMMARY OF BACKGROUND DATA: One-stage spine-shortening osteotomy has been suggested for the treatment of a tethered spinal cord. However, the safety and efficacy of 1-stage spine-shortening osteotomy for the treatment of a severe spinal deformity with an SCM is not known. METHODS: The records of 32 patients with a severe spinal deformity and SCM treated with spine-shortening using 3-column osteotomy from January 2010 to December 2016 were analyzed retrospectively. Intraoperative neurophysiological monitoring was used in all cases. Imaging parameters and neurological complications were analyzed to evaluate clinical safety and efficacy. RESULTS: Spine-shortening using a 3-column osteotomy was conducted successfully in all 32 patients. The mean main coronal curve and maximum kyphotic angle were corrected from 119.8 and 119.1 degrees to 58.6 and 53.9 degrees, respectively, with the corrective rate of 51.4% and 54.3%. The mean correction loss of the major coronal curve and maximum kyphosis was 2.3 and 2.6 degrees, respectively, at a mean follow-up of 73.6 months. Intraoperative monitoring events occurred in 9 patients; of these 9 patients, 3 suffered transient SC injury, and all recovered within 1 year without suffering permanent paralysis. CONCLUSIONS: Spine-shortening using a 3-column osteotomy seems to be safe and efficacious for treating a severe spinal deformity with an SCM. A deep understanding of the method and intensive intraoperative neuromonitoring improved the safety of this challenging and complex surgical procedure.


Intraoperative Neurophysiological Monitoring , Osteotomy , Humans , Kyphosis/diagnostic imaging , Kyphosis/etiology , Kyphosis/surgery , Neural Tube Defects/complications , Osteotomy/adverse effects , Retrospective Studies , Scoliosis/surgery , Spinal Cord/abnormalities , Spinal Cord/surgery , Spine/surgery , Treatment Outcome
8.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(6): 1163-1166, 2022 Dec 18.
Article Zh | MEDLINE | ID: mdl-36533349

OBJECTIVE: To summarize the clinical manifestations, imaging characteristics and experience of surgical treatment of tethered cord syndrome (TCS) accompanied by dermal sinus tract (DST) in adulthoods. METHODS: The authors retrospectively analyzed a series of 25 adult patients with TCS due to DST that were surgically treated under microscope from September 2010 to October 2019. There were 10 males and 15 females with an average age of 29.7 years (rang, 18-48 years). Characterized cutaneous malformation and dermal sinus were found in the lumbosacral region in all the 25 patients. Clinically, all the patients presented with chronic back and lower-extremity pain, numbness and weakness of lower limbs, and bowel and bladder dysfunction. Two cases were admitted to the emergency room with acute infectious cerebral spinal fluid (CSF) leakage complicated with meningitis. According to magnetic resonance imaging (MRI) images, the subdural course of DST whose traction of the spinal cord, the location of the conus medullaris, the presence of subdural lesions, and the diameter of the internal filum terminale were evaluated. The surgical procedure included separating and excising of the DST, section of the internal filum terminale, detethering of the TCS, and reconstruction of the dural sac under microscopy. The patients remained in prone position in 7 days postoperation. RESULTS: MRI showed that the position of the conus medullaris was lower than the level of lumbar 2 vertebrae, and the distal part of the DST entered the subdural stretched part of the spinal cord, to constitute one of the factors of TCS in all the 25 patients. Twenty patients had fatty infiltration of internal filum terminale and another patient had thickened (approximately 5 mm in diameter) internal filum terminale resulting in tightening the conus medullaris. A total of 25 operations were performed including completely dissection and resection of the DST through the skin down to the subdural space, section of the internal filum terminale, detethering of the TCS, and the subdural dermoid cysts were removed in two patients. There were no postoperative complications. The postoperative pathology was consistent with the structure of the DST and internal filum terminale. The local pain was relieved, and the lower-extremity weakness and bowel and bladder dysfunction were gradually relieved postoperatively. The period of follow-up ranged from 3 months to 9 years (mean, 3.9 years). The neurological function of all the patients was intact, and MRI showed that the physiological curvature of the thoracolumbar spine remained normal. There was no recurrence of TCS observed during the follow-up. CONCLUSION: The adult TCS accompanied with DST is characterized by typical cutaneous malformation in the lumbosacral region and tethering of the spinal cord. The patients are usually combined with internal filum terminale enlargement tightening of conus medullaris as well. The surgical treatment including totally resection of the DST and section of the internal filum terminale to detethering the TCS at the same time under microscopy. The outcome of surgical treatment is satisfactory.


Cauda Equina , Neural Tube Defects , Spina Bifida Occulta , Male , Female , Humans , Adult , Spina Bifida Occulta/complications , Spina Bifida Occulta/diagnosis , Spina Bifida Occulta/surgery , Retrospective Studies , Neural Tube Defects/complications , Neural Tube Defects/diagnosis , Neural Tube Defects/surgery , Cauda Equina/surgery , Spinal Cord/diagnostic imaging , Spinal Cord/surgery , Spinal Cord/abnormalities , Magnetic Resonance Imaging/methods , Pain
9.
Clin Perinatol ; 49(3): 623-640, 2022 09.
Article En | MEDLINE | ID: mdl-36113926

Congenital malformations of the spine and spinal cord are a large and diverse group of diagnoses, which are often broadly referred to as spinal dysraphisms (SDs). Derived from the Greek words dys (bad) and raphe (suture), the term dysraphism describes missteps in the process of forming a midline seam during the zipper-like fusion of the neural folds in primary neurulation. As such, the term "spinal dysraphism" is a designation that should technically be reserved for malformations resulting from aberrations in primary neurulation. In medical practice, however, it is a catch-all designation regularly used to describe any of the numerous abnormalities demonstrating incomplete midline closure of mesenchymal, osseous, and nervous tissue, occurring at any point during embryologic development. For the sake of clarity and completeness, this article will also include that breadth in the discussion of congenital abnormalities of the spine.


Abnormalities, Multiple , Spinal Dysraphism , Humans , Magnetic Resonance Imaging , Spinal Cord/abnormalities , Spinal Dysraphism/diagnostic imaging , Spine/abnormalities , Spine/diagnostic imaging
10.
Childs Nerv Syst ; 38(11): 2223-2230, 2022 11.
Article En | MEDLINE | ID: mdl-35794361

This is a case report of an exceedingly rare case of a limited dorsal myeloschisis (LDM) with its stalk inserted on the midline dorsal surface of one of a pair of hemicords in a type II split cord malformation. This entity, literally a "hemi-LDM," has been seen only once by the senior author in his catalogue of over 200 cases of LDM (Pang et al., 2020), nor has it been reported elsewhere before. We postulate that here the mechanism of focal nondisjunction of the hemi-neural plate during primary neurulation, which produces LDMs, occurs at the cusp of the consecutive developmental stages of gastrulation and primary neurulation, right after the appearance of the hemi-neural plates and hemi-notochords caused by the endomesenchymal tract. This child also had a terminal lipoma attached to the end of the conus, indicating that disruption of all three tandem stages of neural tube formation, namely, gastrulation, primary neurulation, and secondary neurulation, can occur in the same individual.


Lipoma , Meningomyelocele , Neural Tube Defects , Child , Humans , Neural Tube Defects/complications , Neural Tube Defects/diagnostic imaging , Neural Tube Defects/surgery , Neurulation , Meningomyelocele/complications , Lipoma/complications , Spinal Cord/diagnostic imaging , Spinal Cord/surgery , Spinal Cord/abnormalities
11.
Braz. J. Pharm. Sci. (Online) ; 58: e20030, 2022. graf
Article En | LILACS | ID: biblio-1403680

Abstract N-(9,13b-dihydro-1H-dibenzo[c,f]imidazo[1,5-a]azepin-3-yl)-2-hydroxybenzamide (DDIAHB) is a new drug developed through molecular modelling and rational drug design by the molecular association of epinastine and salicylic acid. The present study was designed to assess the possible antinociceptive effects of DDIAHB on different pain models in male ICR mice. DDIAHB exerted the reductions of writhing numbers and pain behavior observed during the second phase in the formalin test in a dose-dependent manner. Moreover, DDIAHB increased the latency in the hot-plate test in a dose-dependent manner. Furthermore, intragastric administration DDIAHB caused reversals of decreased pain threshold observed in both streptozotocin-induced diabetic neuropathy and vincristine-induced peripheral neuropathy models. Additionally, intragastric pretreatment with DDIAHB also caused reversal of decreased pain threshold observed in monosodium urate-induced pain model. We also characterized the possible signaling molecular mechanism of the antinociceptive effect-induced by DDIAHB in the formalin model. DDIAHB caused reductions of spinal iNOS, p-STAT3, p-ERK and p-P38 levels induced by formalin injection. Our results suggest that DDIAHB shows an antinociceptive property in various pain models. Moreover, the antinociceptive effect of DDIAHB appear to be mediated by the reductions of the expression of iNOS, p-STAT3, p-ERK and p-P38 levels in the spinal cord in the formalin-induced pain model.


Animals , Male , Mice , Pain Measurement , Analgesics/adverse effects , Organization and Administration , Pain/classification , Spinal Cord/abnormalities , Pharmaceutical Preparations/administration & dosage , Drug Design , Dosage
12.
Braz. J. Pharm. Sci. (Online) ; 58: e20110, 2022. graf
Article En | LILACS | ID: biblio-1403700

Abstract Molecular mechanisms involved in the development of muscle pain induced by static contraction are not completely elucidated. This study aimed to evaluate the involvement of the transient receptor potential vanilloid 1 (TRPV1) and the transient receptor potential ankyrin 1 (TRPA1) receptors expressed in peripheral and central terminals of primary afferents projected to gastrocnemius muscle and spinal cord in muscle pain induced by static contraction. An electrical stimulator provided the contraction of rat gastrocnemius muscle and mechanical muscle hyperalgesia was quantified through the pressure analgesimeter Randall-Selitto. AMG9810 and HC030031 were used. When administered in ipsilateral, but not contralateral gastrocnemius muscle, drugs prevented mechanical muscle hyperalgesia induced by static contraction. Similar results were obtained by intrathecal administrations. We propose that, in an inflammatory muscle pain, peripheral and central TRPV1 and TRPA1 work together to sensitize nociceptive afferent fibers, and that TRPV1 and TRPA1 receptors are potential target to control inflammatory muscle pain.


Animals , Male , Rats , Ankyrins , Myalgia/chemically induced , Spinal Cord/abnormalities , Pharmaceutical Preparations/administration & dosage , Muscle, Skeletal/injuries
13.
Prenat Diagn ; 41(13): 1643-1648, 2021 Dec.
Article En | MEDLINE | ID: mdl-34687566

OBJECTIVE: To explore the migration process of the conus medullaris (CM) and propose a normal range of CM levels during the third trimester. METHOD: We retrospectively collected the ultrasonographic and clinical data of 588 fetuses during the third trimester. We located the CM and assigned scores. One-way analysis of variance and linear regression analyses were used to statistically analyze CM migration. Statistical significance was set at p < 0.05. RESULTS: The CM levels were statistically different among the different gestational weeks of the third trimester. The CM level showed a linear regression correlation with the gestational weeks. On an average, the CM migrated from the top third of the L2 vertebra to the L1/2 intervertebral disc level. CONCLUSION: The CM continues to migrate, from the top third of the L2 vertebra to the L1/2 intervertebral disc level, during the third trimester. The term infant could have the CM at the normal adult level at birth. At the beginning of the third trimester, a CM located above the L2/3 intervertebral disc level could be normal; the CM location at the L3 vertebra level could be physiological and needs follow-up; and a CM presenting below the L3 vertebra level might indicate tethered cord syndrome. The fetus with a CM significantly above the L1/2 intervertebral disc level may have caudal regression syndrome.


Pregnancy Trimester, Third/physiology , Spinal Cord/abnormalities , Adult , Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Pregnancy Trimester, Third/metabolism , Retrospective Studies , Spinal Cord/physiopathology , Ultrasonography, Prenatal/methods , Ultrasonography, Prenatal/statistics & numerical data
14.
Clin Neurol Neurosurg ; 207: 106740, 2021 08.
Article En | MEDLINE | ID: mdl-34119902

OBJECTIVE: To research prognostic factors in patients with spinal dural arteriovenous fistulas at 1 year after surgery. PATIENTS AND METHOD: A retrospective study was performed for all patients diagnosed with spinal dural arteriovenous fistula (SDAVFs) and treated surgically from Jan 1, 2013 to June 30, 2020 in our hospital. Medical records and pre-operative imaging results (MRI and DSA) of 103 patients were analyzed. Neurological function was evaluated by modified Aminoff-Logue Scale (mALS) consecutively at the day before surgery, 6 months and 1year after surgery. Pearson's χ2 test and binary logistic regression were used to find promising predictive factors. RESULT: A total of 76 patients (mean age 56 ± 11 years, 64 (84.2%) are male) with 76 fistulas met inclusive criteria. The mean interval from onset to diagnosis was 14 ± 15 months. Among the fistulas, 8 (10.5%) were located at T1-T6, 42 (55.3%) were located at T7-12, and 26 (34.2%) were located below T12. Compared with pre-operative mALS scores, 54 (71.06%) patients received improvement, and 22 (28.94%) patients felt worse or stable. The binary logistic regression reveals pre-operative mALS score and length of flow voids on T2-WI of pre-operative MRI are predictors of clinical improvement at 1 year after surgery in patients with SDAVFs. CONCLUSION: This study suggests that pre-operative mALS score and length of flow voids on T2-WI of pre-operative MRI are predictors of clinical improvement for patients with SDAVFs.


Central Nervous System Vascular Malformations/surgery , Spinal Cord/surgery , Adult , Aged , Female , Humans , Male , Middle Aged , Prognosis , Retrospective Studies , Spinal Cord/abnormalities , Spinal Cord/blood supply , Treatment Outcome
15.
Medicine (Baltimore) ; 100(10): e24030, 2021 Mar 12.
Article En | MEDLINE | ID: mdl-33725816

ABSTRACT: The aim of the study was to determine if multiple intraspinal anomalies increase the risk of scoliosis correction compared to the normal intraspinal condition or 1 or 2 intraspinal anomalies in congenital scoliosis (CS) and whether correction for multiple intraspinal anomalies need to be performed with preliminary neurosurgical intervention before scoliosis correction.A total of 318 consecutive CS patients who underwent corrective surgery without preliminary neurosurgical intervention at a single institution from 2008 to 2016 were retrospectively reviewed, with a minimum of 2 years of follow-up. The patients were divided into 3 groups according to different intraspinal conditions. In the normal group (N group; n = 196), patients did not have intraspinal anomalies. In the abnormal group (A group; n = 93), patients had 1 or 2 intraspinal anomalies. In the multiple anomaly group (M group; n = 29), patients had 3 or more intraspinal anomalies including syringomyelia, split cord malformation [SCM], tethered cord, low conus, intraspinal mass, Chiari malformation or/and arachnoid cyst. The occurrence of complications as well as perioperative and radiographic data were analyzed.The incidence rate of multiple intraspinal anomalies in CS patients was 9.1% (29/318). No significant difference was observed in the perioperative outcomes or radiographic parameters at the final follow-up. There were no significant differences among the 3 groups in the total, major or neurological complication rates (all P > .05). Two patients (1 in the N group and 1 in the A group) experienced transient neurological complications, whereas no patient experienced permanent neurological deficits during surgery or follow-up.To our knowledge, the current study reported the largest cohort of intraspinal anomalies in patients with CS that has been reported in the literature. The results of our study demonstrated that patients with congenital scoliosis associated with intraspinal anomalies, even multiple intraspinal anomalies that coexist with more complex intraspinal pathologies, may safely and effectively achieve scoliosis correction without preliminary neurological intervention. More complex intraspinal pathologies do not seem to increase the risk of neurosurgical complications during corrective surgery.


Abnormalities, Multiple/surgery , Orthopedic Procedures/adverse effects , Postoperative Complications/epidemiology , Scoliosis/surgery , Spinal Cord Diseases/complications , Spinal Cord/abnormalities , Abnormalities, Multiple/epidemiology , Adolescent , Clinical Decision-Making , Female , Follow-Up Studies , Humans , Male , Neurosurgical Procedures/standards , Neurosurgical Procedures/statistics & numerical data , Orthopedic Procedures/standards , Orthopedic Procedures/statistics & numerical data , Postoperative Complications/etiology , Retrospective Studies , Scoliosis/complications , Scoliosis/congenital , Scoliosis/epidemiology , Spinal Cord/surgery , Spinal Cord Diseases/epidemiology , Spinal Cord Diseases/surgery , Spine/diagnostic imaging , Spine/surgery , Tomography, X-Ray Computed , Treatment Outcome
16.
Stroke ; 52(4): 1455-1459, 2021 04.
Article En | MEDLINE | ID: mdl-33596673

BACKGROUND AND PURPOSE: To date, the incidence of intracranial and spinal arteriovenous shunts has not been thoroughly investigated. We aimed to clarify recent trends in the rates of intracranial and spinal arteriovenous shunts in Japan. METHODS: We conducted multicenter hospital-based surveillance at 8 core hospitals in Okayama Prefecture between April 1, 2009 and March 31, 2019. Patients who lived in Okayama and were diagnosed with cerebral arteriovenous malformations, dural arteriovenous fistulas (DAVFs), or spinal arteriovenous shunts (SAVSs) were enrolled. The incidence and temporal trends of each disease were calculated. RESULTS: Among a total of 393 cranial and spinal arteriovenous shunts, 201 (51.1%) cases of DAVF, 155 (39.4%) cases of cerebral arteriovenous malformation, and 34 (8.7%) cases of SAVS were identified. The crude incidence rates between 2009 and 2019 were 2.040 per 100 000 person-years for all arteriovenous shunts, 0.805 for cerebral arteriovenous malformation, 1.044 for DAVF, and 0.177 for SAVS. The incidence of all types tended to increase over the decade, with a notable increase in incidence starting in 2012. Even after adjusting for population aging, the incidence of nonaggressive DAVF increased 6.0-fold while that of SAVS increased 4.4-fold from 2010 to 2018. CONCLUSIONS: In contrast to previous studies, we found that the incidence of DAVF is higher than that of cerebral arteriovenous malformation. Even after adjusting for population aging, all of the disease types tended to increase in incidence over the last decade, with an especially prominent increase in SAVSs and nonaggressive DAVFs. Various factors including population aging may affect an increase in DAVF and SAVS.


Arteriovenous Fistula/epidemiology , Intracranial Arteriovenous Malformations/epidemiology , Spinal Cord/abnormalities , Humans , Incidence , Japan/epidemiology , Retrospective Studies , Spinal Cord/blood supply
17.
Daru ; 29(1): 61-71, 2021 Jun.
Article En | MEDLINE | ID: mdl-33469801

BACKGROUND: The high consumption of medicines by the population and their storage at home might cause an increase in the number of pharmaceutical substances that may be inappropriately discarded in the sanitary sewage, reaching an environmental aquatic. Thus, the effects of these emerging contaminants need more studies. OBJECTIVES: To identify the profile of most medicines that are discarded by users of community pharmacy and evaluate the toxicity of the most disposed drugs. METHODS: This was a translational study. A descriptive observational study was carried out for convenience of community pharmacy users using a standardized questionnaire. Subsequently, the lethal concentration 50 (LC50) for medicine that is most frequently discarded was determined. After LC50, the embryos (n = 144) were exposed to sublethal concentrations for most discarded drug at 24, 48, and 72 h. Mortality, heartbeat, and embryo deformities were used as parameters of toxicity. RESULTS: Most respondents (96%) had a "home pharmacy." The primary forms of disposal were in the common household waste, kitchen sink, and/or bathroom. The medicines that were most incorrectly discarded by the interviewees were nimesulide (17.1%), dipyrone (10.7%), and paracetamol (5.2%). LC50 of nimesulide was calculated (0.92 µgmL-1). The toxicological test revealed that embryos exposed to nimesulide showed several abnormalities, such as defects in the spinal cord, tail, yolk sac, as well as pericardial edema. Furthermore, the heartbeat decreased by 30% at a concentration of 0.4 µgmL-1 as compared with control group. The yolk sac and pericardial areas increased to >100% in all treatment groups when compared with the control group. CONCLUSION: Respondents disposed medicines in an inappropriate manner primarily in household waste and in the toilet. Nimesulide was the most discarded drug according to study population. Moreover, teratogenic effects such as spinal cord defects, decreasing heartbeats, and increasing pericardial and yolk sac area in embryos were observed after exposure to nimesulide. These results show that nimesulide may promote risk to aquatic organisms and to human health if it is discarded in an unsafe manner.


Sulfonamides/toxicity , Waste Management/methods , Water Pollutants, Chemical/toxicity , Adolescent , Adult , Aged , Animals , Embryo, Nonmammalian/abnormalities , Embryo, Nonmammalian/drug effects , Embryo, Nonmammalian/physiology , Female , Heart/drug effects , Heart/embryology , Heart/physiology , Heart Defects, Congenital/chemically induced , Heart Rate/drug effects , Humans , Male , Middle Aged , Pharmaceutical Preparations , Risk Assessment , Spinal Cord/abnormalities , Spinal Cord/drug effects , Tail/abnormalities , Tail/drug effects , Waste Products , Yolk Sac/drug effects , Young Adult , Zebrafish/abnormalities , Zebrafish/physiology
18.
Clin Genet ; 99(4): 565-571, 2021 04.
Article En | MEDLINE | ID: mdl-33410135

RIPPLY2 is an essential part of the formation of somite patterning during embryogenesis and in establishment of rostro-caudal polarity. Here, we describe three individuals from two families with compound-heterozygous variants in RIPPLY2 (NM_001009994.2): c.238A > T, p.(Arg80*) and c.240-4 T > G, p.(?), in two 15 and 20-year-old sisters, and a homozygous nonsense variant, c.238A > T, p.(Arg80*), in an 8 year old boy. All patients had multiple vertebral body malformations in the cervical and thoracic region, small or absent rib involvement, myelopathies, and common clinical features of SCDO6 including scoliosis, mild facial asymmetry, spinal spasticity and hemivertebrae. The nonsense variant can be classified as likely pathogenic based on the ACMG criteria while the splice variants must be classified as a variant of unknown significance. With this report on two further families, we confirm RIPPLY2 as the gene for SCDO6 and broaden the phenotype by adding myelopathy with or without spinal canal stenosis and spinal spasticity to the symptom spectrum.


Cervical Vertebrae/abnormalities , Dysostoses/congenital , Repressor Proteins/genetics , Alleles , Child , Codon, Nonsense , Dysostoses/genetics , Dysostoses/pathology , Face/abnormalities , Female , Humans , Infant , Infant, Newborn , Male , Mutation, Missense , RNA Splice Sites , Ribs/abnormalities , Scoliosis/genetics , Somites/pathology , Spinal Cord/abnormalities , Spinal Stenosis/genetics , Exome Sequencing
19.
J Neurosurg Pediatr ; 27(3): 311-316, 2020 Dec 18.
Article En | MEDLINE | ID: mdl-33338997

Split cord malformation (SCM) is a term used for all double spinal cords. It represents 3.8%-5% of spinal dysraphisms. Pang et al.'s embryological theory proposes the formation of an "accessory neurenteric canal" that communicates with the yolk sac and amnion. To the authors' knowledge, only three cases of diastematobulbia (basicranial SCM) associated with a spur or dermoid have been reported in the literature.The case patient is a newborn girl with an occipitocervical meningocele and dermal sinus associated with an anomaly of notochordal development in the transition between the medulla oblongata and the spinal cord (diastematobulbia) without a bony septum or dermoid cyst. The patient also has agenesis of the atlas and an absence of corticospinal tract decussation. This patient underwent reconstruction of the occipital meningocele and dermal sinus excision.To the authors' knowledge, this is the first described case of type II diastematobulbia (basicranial SCM), without a dermoid cyst. The authors analyzed the embryological errors present in the case patient and considered the option of further surgical treatment depending on the evolution of the patient's condition. At the time of this report, the patient had shown normal psychomotor development. However, this fact may only be due to the patient's young age. Considering that after initial untethering the patient remained clinically asymptomatic, conservative and close surveillance has been and continues to be the proposed treatment.


Dermoid Cyst/pathology , Spinal Dysraphism/pathology , Child Development , Female , Humans , Infant, Newborn , Magnetic Resonance Imaging , Medulla Oblongata/abnormalities , Medulla Oblongata/pathology , Meningocele/pathology , Meningomyelocele/surgery , Neural Tube Defects/pathology , Neural Tube Defects/surgery , Neurosurgical Procedures , Notochord/abnormalities , Notochord/pathology , Pregnancy , Spina Bifida Occulta/pathology , Spinal Cord/abnormalities , Spinal Dysraphism/surgery , Young Adult
20.
Acta Histochem ; 122(8): 151652, 2020 Dec.
Article En | MEDLINE | ID: mdl-33190055

Several studies have investigated the effects of the electromagnetic field (EMF) on the central nervous system. However, we encountered no studies of the effects of EMF applied in the prenatal period on the offspring vertebrae. The aim of this study is to investigate the effect of a 900 megahertz (MHz) EMF applied to rat dams in the prenatal period on the vertebrae of rat pups. Female Sprague Dawley rats weighing 180-250 g were used in the experiment. Rats identified as pregnant were divided into two groups, control (n = 3) and EMF (n = 3). No EMF was applied to the control group pregnant rats. EMF was applied to the EMF group rats for 1 h daily on an equal and standard basis on prenatal days 13-21. All newborn rat pups were divided into pup control (n = 6) (PC) and pup EMF (n = 6) (PEMF) groups, and no treatment was performed on either. All animals were decapitated on day 32, and the spinal cord in the upper thoracic region was harvested. Vertebral tissues were subjected to routine histological procedures. Histopathological examination revealed that PEMF group vertebral cartilage had been converted into bone tissue. Comparison of central canal diameter and area values between the PEMF group and the PC group revealed statistically significant increases in the PEMF group (p = 0.000 and p = 0.001, respectively). Statistical analysis revealed no significant difference in mean body weights between the two groups (p > 0.530). Based on these findings, we think that 900 MHz EMF applied in the prenatal period affects the development of the vertebrae. This effect causes pathological changes in the rat pup vertebrae. These findings now raise the question of whether EMF also has an impact on neurological and neurosurgical diseases involving the vertebrae.


Electromagnetic Fields/adverse effects , Prenatal Exposure Delayed Effects/pathology , Spinal Cord/radiation effects , Spine/radiation effects , Animals , Animals, Newborn , Electromagnetic Radiation , Eosine Yellowish-(YS) , Female , Hematoxylin , Histocytochemistry , Male , Pregnancy , Rats , Rats, Sprague-Dawley , Spinal Cord/abnormalities , Spinal Cord/growth & development , Spine/abnormalities , Spine/growth & development
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