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Fluids and Barriers of the CNS Feb 2024Peri-sinus structures such as arachnoid granulations (AG) and the parasagittal dural (PSD) space have gained much recent attention as sites of cerebral spinal fluid...
BACKGROUND
Peri-sinus structures such as arachnoid granulations (AG) and the parasagittal dural (PSD) space have gained much recent attention as sites of cerebral spinal fluid (CSF) egress and neuroimmune surveillance. Neurofluid circulation dysfunction may manifest as morphological changes in these structures, however, automated quantification of these structures is not possible and rather characterization often requires exogenous contrast agents and manual delineation.
METHODS
We propose a deep learning architecture to automatically delineate the peri-sinus space (e.g., PSD and intravenous AG structures) using two cascaded 3D fully convolutional neural networks applied to submillimeter 3D T-weighted non-contrasted MRI images, which can be routinely acquired on all major MRI scanner vendors. The method was evaluated through comparison with gold-standard manual tracing from a neuroradiologist (n = 80; age range = 11-83 years) and subsequently applied in healthy participants (n = 1,872; age range = 5-100 years), using data from the Human Connectome Project, to provide exemplar metrics across the lifespan. Dice-Sørensen and a generalized linear model was used to assess PSD and AG changes across the human lifespan using quadratic restricted splines, incorporating age and sex as covariates.
RESULTS
Findings demonstrate that the PSD and AG volumes can be segmented using T-weighted MRI with a Dice-Sørensen coefficient and accuracy of 80.7 and 74.6, respectively. Across the lifespan, we observed that total PSD volume increases with age with a linear interaction of gender and age equal to 0.9 cm per year (p < 0.001). Similar trends were observed in the frontal and parietal, but not occipital, PSD. An increase in AG volume was observed in the third to sixth decades of life, with a linear effect of age equal to 0.64 mm per year (p < 0.001) for total AG volume and 0.54 mm (p < 0.001) for maximum AG volume.
CONCLUSIONS
A tool that can be applied to quantify PSD and AG volumes from commonly acquired T-weighted MRI scans is reported and exemplar volumetric ranges of these structures are provided, which should provide an exemplar for studies of neurofluid circulation dysfunction. Software and training data are made freely available online ( https://github.com/hettk/spesis ).
Topics: Adult; Humans; Child; Adolescent; Young Adult; Middle Aged; Aged; Aged, 80 and over; Child, Preschool; Longevity; Deep Learning; Magnetic Resonance Imaging; Neural Networks, Computer; Magnetic Resonance Spectroscopy; Image Processing, Computer-Assisted
PubMed: 38350930
DOI: 10.1186/s12987-024-00516-w -
Molecular Genetics & Genomic Medicine Feb 2024Intellectual disability (ID) refers to a childhood-onset neurodevelopmental disorder with a prevalence of approximately 1%-3%.
BACKGROUND
Intellectual disability (ID) refers to a childhood-onset neurodevelopmental disorder with a prevalence of approximately 1%-3%.
METHODS
We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated by minigene assay.
RESULTS
Here, we report a boy with ID caused by a variant of CNKSR2. His neurological examination revealed hypsarrhythmia via electroencephalography and a right temporal polar arachnoid cyst via brain magnetic resonance imaging. A novel splicing variant in the CNKSR2 gene (NM_014927.5, c.1657+1G>A) was discovered by exome sequencing. The variant caused a 166 bp intron retention between exons 14 and 15, which was validated by a minigene assay. The variant was not reported in public databases such as gnomAD and the Exome Aggregation Consortium.
CONCLUSIONS
The variant was predicted to be damaging to correct the translation of the CNKRS2 protein and was classified as likely pathogenic according to the ACMG guidelines.
Topics: Male; Child; Humans; Developmental Disabilities; Mental Retardation, X-Linked; Intellectual Disability; RNA Splicing; Neurodevelopmental Disorders; Adaptor Proteins, Signal Transducing
PubMed: 38337158
DOI: 10.1002/mgg3.2389 -
PloS One 2024Atlanto-axial instability is a common disease that affects toy-breed dogs. Most cases of atlanto-axial instability are congenital. Furthermore, patients with...
Atlanto-axial instability is a common disease that affects toy-breed dogs. Most cases of atlanto-axial instability are congenital. Furthermore, patients with atlanto-axial instability are predisposed to other concurrent diseases. Therefore, this study aimed to retrospectively determine the presence of concurrent diseases in cases with atlanto-axial instability using imaging data and analyze the relationship between clinical parameters and the incidence of complex malformations. The clinical data and imaging findings of 41 toy-breed dogs diagnosed with atlanto-axial instability were analyzed using their medical records and imaging data. Occipital dysplasia (17/27), atlanto-occipital overlapping (22/34), dens dysplasia (27/41), Chiari-like malformation (8/34), syringomyelia (5/34), lateral ventricular enlargement (20/36), and intracranial arachnoid cyst (5/35) were observed in patients with atlanto-axial instability. The body weight of the patients in the groups with atlanto-occipital overlapping and lateral ventricular enlargement was lower than that of those in the groups without these diseases (1.78 ± 0.71 vs 2.71 ± 1.15 kg, P = 0.0269, 1.60 ± 0.40 vs 2.75 ± 1.08 kg, P = 0.001, respectively). Furthermore, when the correlation between the total number of concurrent diseases and the age at onset and body weight was examined, it became clear that lower body weight was associated with the incidence of a greater number of concurrent diseases. Thus, the findings of this study suggest that toy-breed dogs are more likely to present with complex malformations and should be evaluated carefully with additional examinations and treatment methods.
Topics: Humans; Dogs; Animals; Retrospective Studies; Dog Diseases; Syringomyelia; Physical Examination; Body Weight; Atlanto-Axial Joint
PubMed: 38324604
DOI: 10.1371/journal.pone.0293363 -
Frontiers in Surgery 2024To study the classification, diagnosis, and treatment strategies of complex tethered cord syndrome (C-TCS) on the basis of the patients' clinical symptoms, imaging...
OBJECTIVE
To study the classification, diagnosis, and treatment strategies of complex tethered cord syndrome (C-TCS) on the basis of the patients' clinical symptoms, imaging findings, and therapeutic schedule.
METHODS
The clinical data of 126 patients with C-TCS admitted to our department from January 2015 to December 2020 were retrospectively analyzed. Classification criteria for C-TCS were established by analyzing the causes of C-TCS. Different surgical strategies were adopted for different types of C-TCS. The Kirollos grading, visual analogue scale (VAS), critical muscle strength, and Japanese Orthopaedic Association (JOA) scores were used to evaluate the surgical outcomes and explore individualized diagnosis and treatment strategies for C-TCS.
RESULTS
C-TCS was usually attributable to three or more types of tether-causing factors. The disease mechanisms could be categorized as pathological thickening and lipomatosis of the filum terminal (filum terminal type), arachnoid adhesion (arachnoid type), spina bifida with lipomyelomeningocele/meningocele (cele type), spinal lipoma (lipoma type), spinal deformity (bone type), and diastomyelia malformation (diastomyelia type). Patients with different subtypes showed complex and varied symptoms and required individualized treatment strategies.
CONCLUSION
Since C-TCS is attributable to different tether-related factors, C-TCS classification can guide individualized surgical treatment strategies to ensure complete release of the tethered cord and reduce surgical complications.
PubMed: 38322409
DOI: 10.3389/fsurg.2024.1277322 -
Cureus Jan 2024Arachnoid cysts are abnormal intradural collections of cerebrospinal fluid. For posterior fossa arachnoid cysts (PFACs), symptoms vary greatly, often relating to cranial...
Arachnoid cysts are abnormal intradural collections of cerebrospinal fluid. For posterior fossa arachnoid cysts (PFACs), symptoms vary greatly, often relating to cranial nerve impingement and/or hydrocephalus. Literature on long-term symptomatic and radiographic follow-up of PFACs is lacking. This case study describes a 32-year-old man who presented with headaches and left-sided hearing loss and was found to have a large left-sided cerebellopontine angle arachnoid cyst with syrinx and ventriculomegaly. After PFAC fenestration and excision, his headaches resolved and his hearing markedly improved. At the one-year postoperative evaluation, symptom improvement persisted, and MRI demonstrated a stable decreased cyst and near-complete resolution of his syrinx.
PubMed: 38318550
DOI: 10.7759/cureus.51750 -
Radiology Case Reports Apr 2024Spinal arachnoid web is a rare condition characterized by extramedullary bands of arachnoid tissue at the level of the dorsal thoracic spinal cord that may lead to...
Spinal arachnoid web is a rare condition characterized by extramedullary bands of arachnoid tissue at the level of the dorsal thoracic spinal cord that may lead to progressive, permanent neurological deficits. To date, this condition has been radiographically characterized by a scalpel sign, which has been pathognomonic in all reported cases of spinal arachnoid webs. In this case, we report the first known patient with confirmed spinal arachnoid web without radiographic evidence of the scalpel sign. In reporting our finding, we encourage a higher clinical suspicion for spinal arachnoid web in patients presenting with progressive thoracic myelopathy following trauma, and radiographic evidence of ventrally displaced spinal cord and turbulent cerebrospinal fluid flow, even in the absence of a scalpel sign.
PubMed: 38317702
DOI: 10.1016/j.radcr.2024.01.036 -
Neurospine Mar 2024Surgical procedures for patients with posttraumatic syringomyelia (PTS) remain controversial. Until now, there have been no effective quantitative evaluation methods to...
OBJECTIVE
Surgical procedures for patients with posttraumatic syringomyelia (PTS) remain controversial. Until now, there have been no effective quantitative evaluation methods to assist in selecting appropriate surgical plans before surgery.
METHODS
We consecutively enrolled PTS patients (arachnoid lysis group, n = 42; shunting group, n = 14) from 2003 to 2023. Additionally, 19 intrathecal anesthesia patients were included in the control group. All patients with PTS underwent physical and neurological examinations and spinal magnetic resonance imaging preoperatively, 3-12 months postoperatively and during the last follow-up. Preoperative lumbar puncture was performed and blood-spinal cord barrier disruption was detected by quotient of albumin (Qalb, cerebrospinal fluid/serum).
RESULTS
The ages (p = 0.324) and sex (p = 0.065) of the PTS and control groups did not differ significantly. There were also no significant differences in age (p = 0.216), routine blood data and prognosis (p = 0.399) between the arachnoid lysis and shunting groups. But the QAlb level of PTS patients was significantly higher than that of the control group (p < 0.001), and the shunting group had a significantly higher QAlb (p < 0.001) than the arachnoid lysis group. A high preoperative QAlb (odds ratio, 1.091; 95% confidence interval, 1.004-1.187; p = 0.041) was identified as the predictive factor for the shunting procedure, with the receiver operating characteristic curve showing 100% specificity and 80.95% sensitivity for patients with a QAlb > 12.67.
CONCLUSION
Preoperative QAlb is a significant predictive factor for the types of surgery. For PTS patients with a QAlb > 12.67, shunting represents the final recourse, necessitating the exploration and development of novel treatments for these patients.
PubMed: 38317552
DOI: 10.14245/ns.2347152.576 -
Journal of Neurosurgery. Case Lessons Feb 2024Spontaneous spinal subarachnoid hemorrhage is a rare pathological entity with a variety of presentations depending on the underlying etiology, which often remains...
BACKGROUND
Spontaneous spinal subarachnoid hemorrhage is a rare pathological entity with a variety of presentations depending on the underlying etiology, which often remains cryptogenic. The literature is sparse regarding the most efficacious treatment or management option, and there is no consensus on follow-up time or modalities. Additionally, there are very few reports that include operative videos, which is provided herein.
OBSERVATIONS
The authors present a case of spontaneous spinal subarachnoid hemorrhage without an underlying etiology in a patient with progressive myelopathy, back pain, and lower-extremity paresthesias. She presented to our institution, and because of progressive worsening of her symptoms and the development of compressive arachnoid cysts, she underwent thoracic laminectomies for evacuation of subdural fluid, fenestration of the arachnoid cysts, and lysis of significant arachnoid adhesions. Her clinical course was further complicated by the recurrence of worsening myelopathy and the development of a large compressive arachnoid cyst with further arachnoiditis. The patient underwent repeat surgical intervention for cyst decompression with an improvement in symptoms.
LESSONS
This case highlights the importance of long-term follow-up for these complicated cases with an emphasis on repeat magnetic resonance imaging. Unfortunately, surgical intervention is associated with short-term relief of the symptoms and no significant nonoperative management is available for these patients.
PubMed: 38315980
DOI: 10.3171/CASE23660