Publications by authors named "Roy W. R. Dudley"

Objective: Cerebral spinal fluid (CSF) diversion methods, including ventriculoperitoneal (VP) shunts, are the standard treatment for hydrocephalus. Hair clipping (HC) has been a routine neurosurgical practice of the great majority of neurosurgeons, due to the perception that this will either decrease the risk of shunt infection or allow for a faster, unimpeded opening and closing of the skin. The benefits of not cutting or clipping hair in terms of normalizing appearance and self-esteem are obvious.

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Article Synopsis
  • * The authors share a case where a child experienced near-complete spontaneous recovery from progressive cervical spine kyphosis without requiring spinal fusion surgery.
  • * This case highlights the possibility of spontaneous recovery in certain patients and suggests that a cautious monitoring approach could be beneficial for those without neurological deficits, avoiding unnecessary surgical risks.
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Histone H3-mutant gliomas are deadly brain tumors characterized by a dysregulated epigenome and stalled differentiation. In contrast to the extensive datasets available on tumor cells, limited information exists on their tumor microenvironment (TME), particularly the immune infiltrate. Here, we characterize the immune TME of H3.

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Background And Objectives: Neuroimaging studies in patients with temporal lobe epilepsy (TLE) show widespread brain network alterations beyond the mesiotemporal lobe. Despite the critical role of the cerebrovascular system in maintaining whole-brain structure and function, changes in cerebral blood flow (CBF) remain incompletely understood in the disease. Here, we studied whole-brain perfusion and vascular network alterations in TLE and assessed its associations with gray and white matter compromises and various clinical variables.

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  • Scientists created a new way to grow special brain cells called microglia from a patient with a rare disease that affects their CSF1R gene.
  • The new method allowed them to produce more healthy microglia-like cells that behave more like natural brain cells, and the cells from the patient showed differences in how they work.
  • They found that the patient’s cells had problems with communication and movement, along with an increased response to inflammation, showing the impact of the faulty CSF1R gene.
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Oligodendrocyte (OL) injury and subsequent loss is a pathologic hallmark of multiple sclerosis (MS). Stress granules (SGs) are membrane-less organelles containing mRNAs stalled in translation and considered as participants of the cellular response to stress. Here we show SGs in OLs in active and inactive areas of MS lesions as well as in normal-appearing white matter.

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We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and analyzed results of genetic testing as well as clinical, EEG, and neuroimaging data.

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The K channel blocker 4-aminopyridine (4AP) has been extensively used to investigate the mechanisms underlying neuronal network synchronization in both and animal models of focal epilepsy. 4AP-induced effects are paralleled by an increase in both excitatory and inhibitory neurotransmitter release, but the mechanisms of action of 4AP on neuronal networks remain unclear. By employing simultaneous whole-cell patch clamp and field potential recordings from hippocampal CA3/4 pyramidal layer of acute brain slices obtained from mice (n = 30), we found that the appearance of epileptiform discharges induced by 4AP (100 μM) is consistently preceded by the transient recurrence of presumptive GABA outward currents, which are not mirrored by any field activity.

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Mer tyrosine kinase (MerTK) is a receptor tyrosine kinase that mediates non-inflammatory, homeostatic phagocytosis of diverse types of cellular debris. Highly expressed on the surface of microglial cells, MerTK is of importance in brain development, homeostasis, plasticity and disease. Yet, involvement of this receptor in the clearance of protein aggregates that accumulate with ageing and in neurodegenerative diseases has yet to be defined.

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Objective: Delayed cerebral ischemia (DCI) associated with vasospasm is well described in the setting of aneurysmal subarachnoid hemorrhage (SAH). In addition, DCI is very infrequently encountered in patients who have undergone resection of a brain tumor with unclear pathophysiology. The occurrence of DCI in the pediatric population is exceedingly rare, and outcomes in this population have, to the authors' knowledge, never been systematically reviewed.

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Purpose: Decompressive craniectomy immediately reduces intracranial pressure by increasing space to accommodate brain volumes. Any delay in reduction of pressure and signs of severe intracranial hypertension requires explanation.

Clinical Features: We present the case of a 13-yr-old boy presenting with a ruptured arteriovenous malformation resulting in a massive occipito-parietal hematoma and increased intracranial pressure (ICP) refractory to medical management.

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Objective: The aim of this study was to characterize a novel pathogenic variant in the transient receptor potential vanilloid 4 (TRPV4) gene, causing familial nonsyndromic craniosynostosis (CS) with complete penetrance and variable expressivity.

Methods: Whole-exome sequencing was performed on germline DNA of a family with nonsyndromic CS to a mean depth coverage of 300× per sample, with greater than 98% of the targeted region covered at least 25×. In this study, the authors detected a novel variant, c.

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Background: Although surgery within the tegmentum of the midbrain is challenging, resection of tegmental pilocytic astrocytomas (PAs) is a standard treatment because this has been shown to outperform chemotherapy and radiotherapy in terms of long-term tumor control. Gross total resection (GTR) assisted by intraoperative neuroelectrophysiological monitoring can be achieved with a reasonable risk-to-benefit ratio, especially for well-circumscribed tumors, but careful scrutiny of magnetic resonance imaging (MRI) is critical to surgical decision making. The authors present two cases of tegmental PAs, which appeared grossly similar on MRI and were operated on via the same surgical approach using the same intraoperative adjuncts.

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Objective: We aimed to clarify the pathophysiology of epilepsy involving seizures with apparently generalized onset, progressing to focal ictal rhythm through stereotactic EEG (SEEG) implantation, recording, stimulation and high-frequency oscillation (HFO) analysis.

Methods: We identified two patients with seizures with bilateral electrographic onset evolving to focal ictal rhythm, who underwent SEEG implantation. Patients had pre-surgical epilepsy work-up, including prolonged video scalp EEG, brain MRI, PET, ictal/interictal SPECT, MEG, and EEG-fMRI prior to SEEG implantation.

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Background: Continuous spike wave in sleep (CSWS) is an electroencephalogram (EEG) pattern associated with developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS). This etiologically heterogeneous syndrome may occur because of genetic factors and congenital or acquired brain lesions. We studied the pattern of clinical presentation and underlying etiologies in patients with DEE-SWAS that respond to resective surgery.

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Importance: Pediatric patients with high-grade gliomas have a poor prognosis. The association among the extent of resection, tumor location, and survival in these patients remains unclear.

Objective: To ascertain whether gross total resection (GTR) in hemispheric, midline, or infratentorial pediatric high-grade gliomas (pHGGs) is independently associated with survival differences compared with subtotal resection (STR) and biopsy at 1 year and 2 years after tumor resection.

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Cowden syndrome (CS) is an autosomal dominant hamartoma and tumor predisposition syndrome caused by heterozygous pathogenic germline variants in in most affected individuals. Major features include macrocrania, multiple facial tricholemmomas, acral and oral keratoses and papillomas, as well as mammary, non-medullary thyroid, renal, and endometrial carcinomas. Lhermitte-Duclos disease (LDD), or dysplastic gangliocytoma of the cerebellum, is the typical brain tumor associated with CS; the lifetime risk for LDD in CS patients has been estimated to be as high as 30%.

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Article Synopsis
  • Researchers aimed to enhance postsurgical seizure outcomes for children with poorly defined cases of focal epilepsy by implementing a new, multi-step evaluation protocol that included collaboration with nearby hospitals.
  • They compared the outcomes of 22 children who underwent surgery under this new strategy to 22 children who had previous treatment using standard methods and required at least one year of follow-up.
  • Results showed that a higher percentage of patients in the new protocol group were seizure-free after one year, with specific imaging techniques like magnetoencephalography and PET/MRI contributing positively to these outcomes.
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  • The study aimed to compare two surgical techniques—vertical parasagittal and lateral peri-insular/peri-Sylvian hemispherotomy—specifically to see which is better for achieving long-term seizure freedom in patients.* -
  • Data from 672 participants indicated that 62.4% achieved seizure freedom over 10 years, with the vertical approach showing higher long-term success rates: 88.8% at 1 year, diminishing to 85.5% at 5 and 10 years, while the lateral approach saw a decline from 89.2% to 57.2% over the same periods.* -
  • The analysis revealed that the vertical technique had a significant advantage in maintaining seizure freedom over
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Background And Objectives: To assess the utility of EEG-fMRI for epilepsy surgery, we evaluated surgical outcome in relation to the resection of the most significant EEG-fMRI response.

Methods: Patients with postoperative neuroimaging and follow-up of at least 1 year were included. In EEG-fMRI responses, we defined as primary the cluster with the highest absolute t value located in the cortex and evaluated 3 levels of confidence for the results.

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Duchenne muscular dystrophy (DMD) is a genetic disorder that results in the absence of dystrophin, a cytoskeletal protein. Individuals with this disease experience progressive muscle destruction, which leads to muscle weakness. Studies have been conducted to find solutions for the relief of individuals with this disease, several of which have shown that utrophin, a protein closely related to dystrophin, when overexpressed in neonatal mice (the murine model of DMD), is able to prevent the progressive muscle destruction observed in the absence of dystrophin.

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