Spatial Lipidomics Reveals Myelin Defects and Protumor Macrophage Infiltration in Malignant Peripheral Nerve Sheath Tumor Adjacent Nerves.

Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas arising from peripheral nerves, accounting for 3% to 5% of soft tissue sarcomas. MPNSTs often recur locally, leading to poor survival. Achieving tumor-free surgical margins is essential to prevent recurrence, but current methods for determining tumor margins are limited, highlighting the need for improved biomarkers.

Inflammatory Pseudotumor of the Ulnar Nerve Mimicking a Malignant Peripheral Nerve Sheath Tumor: A Radiologic Puzzle.

Inflammatory pseudotumor (IPT) of a peripheral nerve is a rare non-neoplastic tumefactive inflammatory condition, often mimicking malignancy. The etiology of this condition is still unknown. Clinically and radiologically, the lesion can mimic a malignant tumor.

A randomized controlled trial comparing conservative versus surgical treatment in patients with foot drop due to peroneal nerve entrapment: results of an internal feasibility pilot study.

Background: Based on the lack of literature to support any treatment strategy in patients with foot drop due to peroneal nerve entrapment, a prospective study randomizing patients between surgery and conservative treatment is warranted. Since studies comparing surgery to no surgery are often challenging, we first examined the feasibility of such a randomized controlled trial.

Methods/design: An internal feasibility pilot study was conducted to assess several aspects of process, resource, management, and scientific feasibility.

Early grafting in severe adult traumatic brachial plexus injury.

Nerve surgical treatment for severe adult traumatic brachial plexus injury is traditionally delayed for months to await spontaneous recovery. Since 2009, the authors have strived to operate on patients with severe brachial plexus lesions within 2 weeks after trauma. This video shows the workup, surgical strategy, and benefits of early supraclavicular nerve grafting, including intraoperative nerve stimulation.

Optimal timing of needle electromyography to diagnose lesion severity in traumatic radial nerve injury.

Introduction/aims: In patients with traumatic radial nerve injury (RNI), the chance of spontaneous recovery must be balanced against the benefits of early surgical reconstruction. We aimed to explore the time-specific value of needle electromyography (NEMG) to diagnose nerve lesion severity.

Methods: In this retrospective diagnostic accuracy study at Leiden Nerve Center, patients at least 12 years of age with RNI caused by fractures or fracture treatment were included.

Evidence in peroneal nerve entrapment: A scoping review.

Background And Purpose: Daily management of patients with foot drop due to peroneal nerve entrapment varies between a purely conservative treatment and early surgery, with no high-quality evidence to guide current practice. Electrodiagnostic (EDX) prognostic features and the value of imaging in establishing and supplementing the diagnosis have not been clearly established.

Methods: We performed a literature search in the online databases MEDLINE, Embase, and the Cochrane Library.

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

Writer's cramp (WC) is a task-specific focal dystonia that occurs selectively in the hand and arm during writing. Previous studies have shown a role for genetics in the pathology of task-specific focal dystonia. However, to date, no causal gene has been reported for task-specific focal dystonia, including WC.

Fusion rates support wired allograft combined with instrumented craniocervical fixation in the paediatric population.

Background: Occipitocervical and atlantoaxial instability in the pediatric population is a rare and challenging condition to treat. Variable surgical techniques have been employed to achieve fusion. The study aimed to assess bony fusion with rigid craniocervical fixation using an allograft bone block to serve as scaffold for bony fusion.

Surgical Interventions for Cervical Radiculopathy Caused by a Vertebral Artery Loop: A Case Report and Review of the Literature.

Background: Aberrant vertebral artery loops are a rare clinical condition, with sparse data regarding the optimal treatment guidelines for individual patients. The heterogeneity of treatment options in the literature creates a problem when tailoring treatments to individual patients. In this review of the literature, multiple surgical treatments for cervical vertebral artery loops were analyzed and compared.

Early nerve repair in traumatic brachial plexus injuries in adults: treatment algorithm and first experiences.

Objective: The object of this study was to assess the advantages and disadvantages of early nerve repair within 2 weeks following adult traumatic brachial plexus injury (ATBPI).

Methods: From 2009 onwards, the authors have strived to repair as early as possible extended C-5 to C-8 or T-1 lesions or complete loss of C-5 to C-6 or C-7 function in patients in whom there was clinical and radiological suspicion of root avulsion. Among a group of 36 patients surgically treated in the period between 2009 and 2011, surgical findings in those who had undergone treatment within 2 weeks after trauma were retrospectively compared with results in those who had undergone delayed treatment.

Anterior subcutaneous transposition for persistent ulnar neuropathy after neurolysis.

OBJECTIVE Little is known about optimal treatment if neurolysis for ulnar nerve entrapment at the elbow fails. The authors evaluated the clinical outcome of patients who underwent anterior subcutaneous transposition after failure of neurolysis of ulnar nerve entrapment (ASTAFNUE). METHODS A consecutive series of patients who underwent ASTAFNUE performed by a single surgeon between 2009 and 2014 was analyzed retrospectively.

Impaired health-related quality of life in meningioma patients-a systematic review.

While surgical and radiotherapeutic improvements increased life expectancy of meningioma patients, little is known about these patients' health-related quality of life (HRQoL). Therefore, the objectives of this systematic review were to assess HRQoL in meningioma patients, the methodological quality of the used questionnaires (COSMIN criteria), and the reporting level of patient-reported outcomes (PROs) in the included studies (International Society of Quality of Life Research criteria).Nineteen articles met our inclusion criteria.

Reliability and Validity of the Therapy Intensity Level Scale: Analysis of Clinimetric Properties of a Novel Approach to Assess Management of Intracranial Pressure in Traumatic Brain Injury.

We aimed to assess the reliability and validity of the Therapy Intensity Level scale (TIL) for intracranial pressure (ICP) management. We reviewed the medical records of 31 patients with traumatic brain injury (TBI) in two European intensive care units (ICUs). The ICP TIL was derived over a 4-day period for 4-h (TIL4) and 24-h epochs (TIL24).

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.

Musician's dystonia and writer's cramp are examples of task-specific dystonia. Recently, the arylsulfatase G (ARSG) locus was suggested to be associated with musician's dystonia and writer's cramp by a genome-wide association study. To test for the presence of causal variants, the entire coding region and exon-intron boundaries of ARSG were sequenced in DNA samples from 158 musician's dystonia patients which were collected at the University of Music, Drama, and Media (Hanover, Germany), and 72 patients with writer's cramp which were recruited at the Academic Medical Centers in Amsterdam and Groningen, the Netherlands.

RELN rare variants in myoclonus-dystonia.

Background: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic symptoms combined with dystonia of the upper part of the body. A proportion of M-D cases are caused by mutations in the epsilon-sarcoglycan gene. In remaining M-D patients, no genetic factor has been established, indicating genetic heterogeneity.

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

Using exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmias, we identified a mutation in the CACNA1B gene, coding for neuronal voltage-gated calcium channels CaV2.2. This mutation (c.

DRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystonia.

The dystonias are a clinical heterogeneous group with a complex genetic background. To gain more insight in genetic risk factors in dystonia we used a pathway sequence approach in patients with an extreme dystonia phenotype (n = 26). We assessed all coding and non-coding variants in candidate genes in D1-like subclass of dopamine receptor genes (DRD1, DRD5) and the synaptic vesicle pathway linked to torsinA (TOR1A, STON2, SNAPIN, KLC1 and THAP1), spanning 96 Kb.

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

Musician's dystonia (MD) affects 1% to 2% of professional musicians and frequently terminates performance careers. It is characterized by loss of voluntary motor control when playing the instrument. Little is known about genetic risk factors, although MD or writer's dystonia (WD) occurs in relatives of 20% of MD patients.

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

Objective: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.

Methods: Genome-wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow-up examination, including electrophysiological studies and magnetic resonance imaging scanning.

Is TOR1A a risk factor in adult-onset primary torsion dystonia?

Background: Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results.

Methods: The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia.