Search

Objective: To evaluate the role of weekly neurofibromatosis (NF) multi-disciplinary conferences (MDC) on the diagnostic and therapeutic plan for patients with NF type 1 (NF1) and schwannomatosis (SWN). Materials and methods: This retrospective study reviewed patients with confirmed or suspected NF1 and SWN discussed in weekly MDC from March to July 2021. Demographic data collected included patient age, sex, pre-conference and post-conference diagnosis, radiological studies reviewed, and provider specialties in attendance. Outcomes reported included changes in imaging interpretation and treatment plans, changes in post-conference diagnosis relative to pre-conference diagnosis, and time to completion of the recommended change in treatment. Results: Data from 17 MDC "pre-conference" lists included 75 patients (38 female, 37 males, mean age (years): 38 (range: 6–80)) with NF1 (52%, 39/75) and SWN (36%, 27/75) discussed over a total of 91 case reviews. 18.7% (14/75) of all patients had NF2-related SWN, and 17.3% (13/75) of all patients had non-NF2 SWN. The MDC led to changes in imaging interpretation in 18.7% and changes in patient management in 74.7% (diagnostic testing (n = 52), surgical plan (n = 24), medical treatment (n = 9), clinical trial status (n = 4), and radiation treatment (n = 1)) of cases. Among patients for whom a change in management was recorded, 91% (62/68) completed at least one recommendation (mean time to completion (days): 41.4 (range: 0–278)). Conclusion: Weekly MDC changes the diagnostic and therapeutic management of the majority of patients discussed (74.7%) and promotes a high adherence rate to recommendations (91%). [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1), the most common tumor predisposition syndrome, occurs when NF1 gene variants result in loss of neurofibromin, a negative regulator of RAS activity. Plexiform neurofibromas (PN) are peripheral nerve sheath tumors that develop in patients with NF1 and are associated with substantial morbidity and for which, until recently, the only treatment was surgical resection. However, surgery carries several risks and a proportion of PN are considered inoperable. Understanding the genetic underpinnings of PN led to the investigation of targeted therapies as medical treatment options, and the MEK1/2 inhibitor selumetinib has shown promising efficacy in pediatric patients with NF1 and symptomatic, inoperable PN. In a phase I/II trial, most children (approximately 70%) achieved reduction in tumor volume accompanied by improvements in patient-reported outcomes (decreased tumor-related pain and improvements in quality of life, strength, and range of motion). Selumetinib is currently the only licensed medical therapy indicated for use in pediatric patients with symptomatic, inoperable NF1-PN, with approval based on the results of this pivotal clinical study. Several other MEK inhibitors (binimetinib, mirdametinib, trametinib) and the tyrosine kinase inhibitor cabozantinib are also being investigated as medical therapies for NF1-PN. Careful consideration of multiple aspects of both disease and treatments is vital to reduce morbidity and improve outcomes in patients with this complex and heterogeneous disease, and clinicians should be fully aware of the risks and benefits of available treatments. There is no single treatment pathway for patients with NF1-PN; surgery, watchful waiting, and/or medical treatment are options. Treatment should be individualized based on recommendations from a multidisciplinary team, considering the size and location of PN, effects on adjacent tissues, and patient and family preferences. This review outlines the treatment strategies currently available for patients with NF1-PN and the evidence supporting the use of MEK inhibitors, and discusses key considerations in clinical decision-making. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the impact of magnetic resonance neurography (MRN) on diagnostic thinking and therapeutic choices in patients with suspected peripheral neuropathy.Methods: IRB approval was obtained for this HIPAA-compliant study. Questionnaires were administered to six surgeons regarding the diagnosis and treatment in 85 patients suspected of having peripheral neuropathy, before (pretest) and after (posttest) MRN. Multiple outcome measures related to diagnostic confidence and surgical decision-making were assessed.Results: The final cohort included 81 patients (30 men and 51 women, age 47 ± 17 years). The following changes were observed from pretest to posttest questionnaires: 23% in nerve involvement (P < 0.05), 48% in degree of confidence of nerve involvement (P < 0.01), 27% in grade of injury (P < 0.05), 33% in differential diagnosis (P < 0.05), 63% in degree of confidence in need for surgery (P < 0.001), 41% in timing of surgery (P < 0.01), 30% in approach to surgery (P < 0.05), 58% in degree of confidence in approach to surgery (P < 0.001), 30% in estimated length of surgery (P < 0.05) and 27% in length of incision (P < 0.05). The dichotomous decision regarding surgical or nonsurgical treatment changed from pro to con in 17%.Conclusion: MRN results significantly influenced the diagnostic thinking and therapeutic recommendations of peripheral nerve surgeons.Key Points: • In patients with peripheral neuropathy, MRN significantly impacts diagnostic thinking. • In patients with peripheral neuropathy, MRN significantly impacts therapeutic choices. • 3-T MRN should be considered in presurgical planning of patients with peripheral neuropathy. [ABSTRACT FROM AUTHOR]

Objectives: To describe the MRI appearance of traumatic neuromas on non-contrast and contrast-enhanced MRI sequences.Methods: This IRB-approved, HIPAA-compliant study retrospectively reviewed 13 subjects with 20 neuromas. Two observers reviewed pre-operative MRIs for imaging features of neuroma (size, margin, capsule, signal intensity, heterogeneity, enhancement, neurogenic features and denervation) and the nerve segment distal to the traumatic neuroma. Descriptive statistics were reported. Pearson's correlation was used to examine the relationship between size of neuroma and parent nerve.Results: Of 20 neuromas, 13 were neuromas-in-continuity and seven were end-bulb neuromas. Neuromas had a mean size of 1.5 cm (range 0.6-4.8 cm), 100 % (20/20) had indistinct margins and 0 % (0/20) had a capsule. Eighty-eight percent (7/8) showed enhancement. All 100 % (20/20) had tail sign; 35 % (7/20) demonstrated discontinuity from the parent nerve. None showed a target sign. There was moderate positive correlation (r = 0.68, p = 0.001) with larger neuromas arising from larger parent nerves. MRI evaluation of the nerve segment distal to the neuroma showed increased size (mean size 0.5 cm ± 0.4 cm) compared to the parent nerve (mean size 0.3 cm ± 0.2 cm).Conclusion: Since MRI features of neuromas include enhancement, intravenous contrast medium cannot be used to distinguish neuromas from peripheral nerve sheath tumours. The clinical history of trauma with the lack of a target sign are likely the most useful clues.Key Points: • MRI features of neuromas include enhancement and lack of a target sign. • Contrast material cannot be used to distinguish traumatic neuromas from PNSTs. • Traumatic neuromas can simulate peripheral nerve neoplasms on imaging. [ABSTRACT FROM AUTHOR]

Spasticity is a potentially debilitating symptom of various acquired and congenital neurologic pathologies that, without adequate treatment, may lead to long-term disability, compromise functional independence, and negatively impact mental health. Several conservative as well as non-nerve targeted surgical strategies have been developed for the treatment of spasticity, but these may be associated with significant drawbacks, such as adverse side effects to medication, device dependence on intrathecal baclofen pumps, and inadequate relief with tendon-based procedures. In these circumstances, patients may benefit from nerve-targeted surgical interventions such as (i) selective dorsal rhizotomy, (ii) hyperselective neurectomy, and (iii) nerve transfer. When selecting the appropriate surgical approach, preoperative patient characteristics, as well as the risks and benefits of nerve-targeted surgical intervention, must be carefully evaluated. Here, we review the current evidence on the efficacy of these nerve-targeted surgical approaches for treating spasticity across various congenital and acquired neurologic pathologies. [ABSTRACT FROM AUTHOR]

Cervical spinal cord injury (SCI) causes devastating loss of upper limb function and independence. Restoration of upper limb function can have a profound impact on independence and quality of life. In low-cervical SCI (level C5–C8), upper limb function can be restored via reinnervation strategies such as nerve transfer surgery. The translation of recovered upper limb motor function into functional independence in activities of daily living (ADLs), however, remains unknown in low cervical SCI (i.e., tetraplegia). The objective of this study was to evaluate the association of patterns in upper limb motor recovery with functional independence in ADLs. This will then inform prioritization of reinnervation strategies focused to maximize function in patients with tetraplegia. This retrospective study performed a secondary analysis of patients with low cervical (C5–C8) enrolled in the SCI Model Systems (SCIMS) database. Baseline neurological examinations and their association with functional independence in major ADLs—i.e., eating, bladder management, and transfers (bed/wheelchair/chair)—were evaluated. Motor functional recovery was defined as achieving motor strength, in modified research council (MRC) grade, of ≥ 3 /5 at one year from ≤ 2/5 at baseline. The association of motor function recovery with functional independence at one-year follow-up was compared in patients with recovered elbow flexion (C5), wrist extension (C6), elbow extension (C7), and finger flexion (C8). A multi-variable logistic regression analysis, adjusting for known factors influencing recovery after SCI, was performed to evaluate the impact of motor function at one year on a composite outcome of functional independence in major ADLs. Composite outcome was defined as functional independence measure score of 6 or higher (complete independence) in at least two domains among eating, bladder management, and transfers. Between 1992 and 2016, 1090 patients with low cervical SCI and complete neurological/functional measures were included. At baseline, 67% of patients had complete SCI and 33% had incomplete SCI. The majority of patients were dependent in eating, bladder management, and transfers. At one-year follow-up, the largest proportion of patients who recovered motor function in finger flexion (C8) and elbow extension (C7) gained independence in eating, bladder management, and transfers. In multi-variable analysis, patients who had recovered finger flexion (C8) or elbow extension (C7) had higher odds of gaining independence in a composite of major ADLs (odds ratio [OR] = 3.13 and OR = 2.87, respectively, p < 0.001). Age 60 years (OR = 0.44, p = 0.01), and complete SCI (OR = 0.43, p = 0.002) were associated with reduced odds of gaining independence in ADLs. After cervical SCI, finger flexion (C8) and elbow extension (C7) recovery translate into greater independence in eating, bladder management, and transfers. These results can be used to design individualized reinnervation plans to reanimate upper limb function and maximize independence in patients with low cervical SCI. [ABSTRACT FROM AUTHOR]

Examines the possibility that HIV may affect thrombopoiesis directly. Use of techniques of kinetic analysis and imaging to study platelets in both HIV-positive patients with thrombocytopenia and those without it; Paired studies of platelet kinetics before and during zidovudine treatment in patients with thrombocytopenia; More.

The optimal decompression time for patients presenting with acute traumatic central cord syndrome (ATCCS) has been debated, and a high level of evidence is lacking. To compare early (<24 hours) versus late (≥24 hours) surgical decompression for ATCCS. Systematic review and meta-analysis. Medline, PubMed, Embase, and CENTRAL were searched from inception to March 15th, 2023. The primary outcome was American Spinal Injury Association (ASIA) motor score. Secondary outcomes were venous thromboembolism (VTE), total complications, overall mortality, hospital length of stay (LOS), and ICU LOS. The GRADE approach determined certainty in evidence. The nine studies included reported on 5,619 patients, of whom 2,099 (37.35%) underwent early decompression and 3520 (62.65%) underwent late decompression. The mean age (53.3 vs 56.2 years, p=.505) and admission ASIA motor score (mean difference [MD]=−0.31 [−3.61, 2.98], p=.85) were similar between the early and late decompression groups. At 6-month follow-up, the two groups were similar in ASIA motor score (MD= −3.30 [−8.24, 1.65], p=.19). However, at 1-year follow-up, the early decompression group had a higher ASIA motor score than the late decompression group in total (MD=4.89 [2.89, 6.88], p<.001, evidence: moderate), upper extremities (MD=2.59 [0.82, 4.36], p=.004) and lower extremities (MD=1.08 [0.34, 1.83], p=.004). Early decompression was also associated with lower VTE (odds ratio [OR]=0.41 [0.26, 0.65], p=.001, evidence: moderate), total complications (OR=0.53 [0.42, 0.67], p<.001, evidence: moderate), and hospital LOS (MD=−2.94 days [−3.83, −2.04], p<.001, evidence: moderate). Finally, ICU LOS (MD=−0.69 days [−1.65, 0.28], p=.16, evidence: very low) and overall mortality (OR=1.35 [0.93, 1.94], p=.11, evidence: moderate) were similar between the two groups. The meta-analysis of these studies demonstrated that early decompression was beneficial in terms of ASIA motor score, VTE, complications, and hospital LOS. Furthermore, early decompression did not increase mortality odds. Although treatment decision-making has been individualized, early decompression should be considered for patients presenting with ATCCS, provided that the surgeon deems it appropriate. [ABSTRACT FROM AUTHOR]

Objective: To assess the quality and accuracy of metal artifact reduction sequence (MARS) magnetic resonance imaging (MRI) for the diagnosis of lumbosacral neuropathies in patients with metallic implants in the pelvis.Materials and Methods: Twenty-two subjects with lumbosacral neuropathy following pelvic instrumentation underwent 1.5-T MARS MRI including optimized axial intermediate-weighted and STIR turbo spin echo sequences extending from L5 to the ischial tuberosity. Two readers graded the visibility of the lumbosacral trunk, sciatic, femoral, lateral femoral cutaneous, and obturator nerves and the nerve signal intensity of nerve, architecture, caliber, course, continuity, and skeletal muscle denervation. Clinical examination and electrodiagnostic studies were used as the standard of reference. Descriptive, agreement, and diagnostic performance statistics were applied.Results: Lumbosacral plexus visibility on MARS MRI was good (4) or very good (3) in 92% of cases with 81% exact agreement and a Kendall's W coefficient of 0.811. The obturator nerve at the obturator foramen and the sciatic nerve posterior to the acetabulum had the lowest visibility, with good or very good ratings in only 61% and 77% of cases respectively. The reader agreement for nerve abnormalities on MARS MRI was excellent, ranging from 95.5 to 100%. MARS MRI achieved a sensitivity of 86%, specificity of 67%, positive predictive value of 95%, and negative predictive value of 40%, and accuracy of 83% for the detection of neuropathy.Conclusion: MARS MRI yields high image quality and diagnostic accuracy for the assessment of lumbosacral neuropathies in patients with metallic implants of the pelvis and hips. [ABSTRACT FROM AUTHOR]

Nerve transfer surgery is sometimes offered to patients with acute flaccid myelitis (AFM). The objectives of this study were to evaluate surgical efficacy, assess which clinical and neurophysiological data are valuable for preoperative planning, and report long-term outcomes. This is a single-center, retrospective case series of patients with AFM who received nerve transfer surgery. All patients had preoperative electromyography and nerve conduction studies (EMG/NCS). Matched control muscles that did not receive nerve transfer surgery were defined in the same cohort. Ten patients meeting inclusion criteria received a total of 23 nerve transfers (19 upper extremity, four lower extremity). The mean age at symptom onset was 3.8 years, surgery was 0.5 to 1.25 years after diagnosis, and mean follow-up was 2.3 years (range 1.3 to 4.5 years). Among muscles with preoperative strength Medical Research Council (MRC) grade 0, muscles receiving nerve transfers performed significantly better than those that did not (MRC grade 2.17 ± 0.42 vs 0 ± 0, respectively, P = 0.0001). Preoperative EMG/NCS predicted worse outcomes in recipient muscles with more abundant acute denervation potentials (P = 0.0098). Donor nerves found to be partially denervated performed equally well as unaffected nerves. Limited data suggested functional improvement accompanying strength recovery. Nerve transfer surgery is an effective strategy to restore strength for patients with AFM with persistent, severe motor deficits. Postoperative outcomes in patients with complete paralysis are better than the natural history of disease. This study demonstrates the utility of preoperative clinical and electrophysiological data in guiding patient selection for nerve transfer surgery. [ABSTRACT FROM AUTHOR]

Study Design: Retrospective cohort study. Objective: The aim was to investigate the accuracy of pedicle screw placement by freehand technique and to compare revision surgery rates among three different imaging verification pathways. Summary of Background Data: Studies comparing different imaging modalities in freehand screw placement surgery are limited. Materials and Methods: A single-institution retrospective chart review identified adult patients who underwent freehand pedicle screw placement in the thoracic, lumbar or sacral levels. Patients were stratified into three cohorts based on the intraoperative imaging modality used to assess the accuracy of screw position: intraoperative X-rays (cohort 1); intraoperative O-arm (cohort 2); or intraoperative computed tomography (CT)-scan (cohort 3). Postoperative CT scans were performed on all patients in cohorts 1 and 2. Postoperative CT scan was not required in cohort 3. Screw accuracy was assessed using the Gertzbein-Robbins grading system. Results: A total of 9179 pedicle screws were placed in the thoracic or lumbosacral spine in 1311 patients. 210 (2.3%) screws were identified as Gertzbein-Robbins grades C-E on intraoperative/postoperative CT scan, 137 thoracic screws, and 73 lumbar screws (P <0.001). Four hundred and nine patients underwent placement of 2754 screws followed by intraoperative X-ray (cohort 1); 793 patients underwent placement of 5587 screws followed by intraoperative O-arm (cohort 2); and 109 patients underwent placement of 838 screws followed by intraoperative CT scan (cohort 3). Postoperative CT scans identified 65 (2.4%) and 127 (2.3%) malpositioned screws in cohorts 1 and 2, respectively. Eleven screws (0.12%) were significantly malpositioned and required a second operation for screw revision. Nine patients (0.69%) required revision operations: eight of these patients were from cohort 1 and one patient was from cohort 2. Conclusion: When compared to intraoperative X-ray, intraoperative O-arm verification decreased the revision surgery rate for malpositioned screws from 0.37% to 0.02%. In addition, our analysis suggests that the use of intraoperative O-arm can obviate the need for postoperative CT scans. [ABSTRACT FROM AUTHOR]

Malignant peripheral nerve sheath tumors (MPNST) are the deadliest cancer that arises in individuals diagnosed with neurofibromatosis and account for nearly 5% of the 15,000 soft tissue sarcomas diagnosed in the United States each year. Comprised of neoplastic Schwann cells, primary risk factors for developing MPNST include existing plexiform neurofibromas (PN), prior radiotherapy treatment, and expansive germline mutations involving the entire NF1 gene and surrounding genes. PN develop in nearly 30-50% of patients with neurofibromatosis type 1 (NF1) and most often grow rapidly in the first decade of life. One of the most important aspects of clinical care for NF1 patients is monitoring PN for signs of malignant transformation to MPNST that occurs in 10-15% of patients. We perform aneuploidy analysis on ctDNA from 883 ostensibly healthy individuals and 28 patients with neurofibromas, including 7 patients with benign neurofibroma, 9 patients with PN and 12 patients with MPNST. Overall sensitivity for detecting MPNST using genome wide aneuploidy scoring was 33%, and analysis of sub-chromosomal copy number alterations (CNAs) improved sensitivity to 50% while retaining a high specificity of 97%. In addition, we performed mutation analysis on plasma cfDNA for a subset of patients and identified mutations in NF1, NF2, RB1, TP53BP2, and GOLGA2. Given the high throughput and relatively low sequencing coverage required by our assay, liquid biopsy represents a promising technology to identify incipient MPNST. [ABSTRACT FROM AUTHOR]

The Seddon and Sunderland classifications have been used by physicians for peripheral nerve injury grading and treatment. While Seddon classification is simpler to follow and more relevant to electrophysiologists, the Sunderland grading is more often used by surgeons to decide when and how to intervene. With increasing availability of high‑resolution and high soft‑tissue contrast imaging provided by MR neurography, the surgical treatment can be guided following the above‑described grading systems. The article discusses peripheral nerve anatomy, pathophysiology of nerve injury, traditional grading systems for classifying the severity of nerve injury, and the role of MR neurography in this domain, with respective clinical and surgical correlations, as one follows the anatomic paths of various nerve injury grading systems. [ABSTRACT FROM AUTHOR]

Up to 10% of cervical spine surgeries are complicated by postoperative weakness. Although many patients recover with nonoperative management, some require surgery for restoration of function. To present the indications and outcomes of patients undergoing nerve transfers after developing weakness secondary to cervical spine decompression. A retrospective review of patients from 2 academic medical centers who underwent nerve transfer for C5–6 root injury after cervical spine surgery was performed. Of the 10 treated patients, 9 experienced recovery at last follow-up, demonstrating improvements in strength and motion in the affected muscles. Successful nerve transfers occurred between 3 and 8 months after the index spinal surgery and included spinal accessory nerve to suprascapular nerve, triceps branch to anterior division of the axillary nerve, and/or ulnar or median fascicles to motor branches of the musculocutaneous nerve. The unsuccessful patient underwent nerve transfer surgery approximately 11 months after the index operation and failed to obtain functional recovery. Patients who experience C5–6 weakness after cervical spine surgery should be evaluated and considered for nerve transfer surgery if they have continued severe functional deficits at 6 months postoperatively. Earlier referral for nerve transfer is associated with improved functional outcomes in this cohort. [ABSTRACT FROM AUTHOR]

The authors report a vascular malformation mimicking a plexiform peripheral nerve sheath tumor. Three Tesla magnetic resonance neurography with high-resolution anatomic and advanced functional diffusion tensor imaging was helpful in evaluating full extent of the lesion and characterizing its internal architecture. [ABSTRACT FROM AUTHOR]

The authors report a vascular malformation mimicking a plexiform peripheral nerve sheath tumor. Three Tesla magnetic resonance neurography with high-resolution anatomic and advanced functional diffusion tensor imaging was helpful in evaluating full extent of the lesion and characterizing its internal architecture. [ABSTRACT FROM AUTHOR]

The article discusses the retrospective chart review of patients who underwent operative treatment by Doctor Harvey Cushing at the Johns Hopkins Hospital between 1896 and 1912 for the illustration of the early use of peripheral nerve anastomoses for treating postpoliomyelitis paralysis. Cushing was unsuccessful in the multiple peripheral nerve anastomoses performed in a three-year-old girl for the restoration of her motor function.

Various animal models of neuropathic pain have been developed which involve creating a lesion in a spinal root. We describe a human correlate in which patients developed a neuropathic pain syndrome after having one spinal nerve surgically divided. In some patients with brachial plexus lesions, the C7 spinal nerve from the opposite side is divided and used as a nerve transfer to re-innervate the injured brachial plexus. Of five patients that underwent this procedure, one went on to develop a transient but significant neuropathic pain problem. Extensive sensory testing in this patient 2 months after surgery revealed dysesthesia and hyperalgesia to mechanical and cooling stimuli, but not to heat stimuli in the C7 dermatome of the hand on the side of C7 section. The pain and hyperalgesia persisted during a phentolamine infusion, which produced a sympathetic blockade. Only mild parasthesia persisted at a 1 year follow up. Thus, surgical division of a single spinal nerve in humans can lead to the development of neuropathic pain. [Copyright &y& Elsevier]

Objective: To describe and illustrate the magnetic resonance imaging (MRI) anatomy of the anterior femoral cutaneous nerve (AFCN) and a new technique for cryoanalgesia of the AFCN for long-term analgesic treatment of recalcitrant AFCN-mediated neuropathic pain.Materials and Methods: Using a procedural high-resolution MRI technique, we describe the MRI anatomy of the AFCN. Three patients (mean age, 48 years; range, 41-67 years) with selective nerve block-verified recalcitrant AFCN-mediated anterior thigh pain were enrolled to undergo cryoanalgesia of the AFCN. Procedures were performed under MRI guidance using clinical wide-bore MR imaging systems and commercially available cryoablation system with MR-conditional probes. Outcome variables included technical success, clinical effectiveness including symptom relief measured on an 11-point visual analog scale, frequency of complications, and procedure time.Results: Procedural MRI allowed to successfully demonstrate the course of the AFCN, accurate cryoprobe placement, and monitoring of the ice ball, which resulted in technically successful iceball growth around the AFCN in all cases. All procedures were clinically effective, with median pain intensity decreasing from 8 (7-9) before the procedure to 1 (0-2) after the procedure. The cryoanalgesia effect persisted during a 12-month follow-up period in all three patients. No major complications occurred. The average total procedure time was 98 min (range, 85-125 min).Conclusion: We describe the MRI anatomy of the AFCN and a new technique for cryoanalgesia of the AFCN using MRI guidance, which permits identification of the AFCN, selective targeting, and iceball monitoring to achieve long-term AFCN-mediated neuropathic pain relief. [ABSTRACT FROM AUTHOR]

In this study, we sought to characterize contemporary trends in cost and utilization of spinal cord stimulation (SCS). The Healthcare Cost and Utilization Project−National Inpatient Sample was queried for inpatient admissions from 2008 to 2014 where SCS was performed. We then determined the rates and costs of SCS performed in this time frame to treat diagnoses that we classified as device-related complications, degenerative spine disease, pain syndromes, and neuropathies/neuritis/nerve lesions. Least-squares regression was performed to determine the yearly trends for each indication adjusted by the total number of yearly hospitalizations for that diagnosis. We identified a total of 6876 admissions in whom an SCS was performed. The overall rate of inpatient SCS procedures performed has decreased by 45% from 2008 to 2014 (14.0 to 7.7 procedures per 100,000 admissions). Adjusted analysis for yearly trends also demonstrated a declining trend for all indications; however, this was not found to be statistically significant, except for device-related complications (P = 0.004). The median inflation-adjusted cost of an admission where SCS was performed increased slightly by 7.4% from $26,200 (IQR: $16,700−$33,800) in 2008 to $28,100 (IQR: $19,600−$36,900) in 2014. Billed hospital charges demonstrated a significant increase with median inflation-adjusted admission charge of $66,068 in 2008 to $110,672 in 2014. Despite a declining contemporary trend in inpatient SCS, an increase was noted in admission costs and hospital charges. A significant declining trend was noted in revision SCS implantations due to device-related complications. [ABSTRACT FROM AUTHOR]

Background: C5 palsy affects approximately 5% to 10% of patients undergoing cervical spine surgery. It has a significant negative impact on patient quality-of-life outcomes and healthcare costs. Although >80% of patients improve, some are left with persistent, debilitating deficits. Our objective was to examine if electrodiagnostic testing could be used to successfully identify patients likely to experience complete, partial, and no recovery.Methods: Patients undergoing posterior cervical decompression and fusion at a single institution over a 10-year period were identified. Those experiencing postoperative C5 palsy were included. Outcomes examined included motor recovery of the affected deltoid as a function of time, and changes in electrodiagnostic testing as a function of time since injury. Electrodiagnostic testing included electromyography and was sub-analyzed by time of acquisition postinjury. Deltoid strength was graded on manual motor testing using the 5-point medical research council grading system.Results: Of 77 patients experiencing C5 palsy, 29 had postoperative electrodiagnostic testing. Patients experiencing complete recovery on average achieved functional (4/5) strength by 6-weeks post injury and 4+ per 5 strength by 6-months. Those experiencing partial recovery only achieved antigravity strength (3/5) by 6-weeks and low-function (4-/5) strength by 6-months. Electrodiagnostic testing performed 6-weeks to 6-months postinjury demonstrated that those experiencing complete recovery were more likely to have normal motor unit (MU) recruitment than those experiencing partial (p<.001) or no recovery (p=.008). The presence of ≥2+ fibrillation on tests acquired ≤6-weeks of injury identified patients unlikely to experience any recovery with a positive predictive value (PPV) of 88.9%. The presence of normal MU recruitment on tests acquired 6-weeks to 6-months postinjury identified patients likely to experience complete recovery with a PPV of 87.5%.Conclusions: Electrodiagnostic testing may be a valuable means of differentiating between patients with C5 palsy likely to experience complete, partial, or no recovery. Testing between 6-weeks and 6-months post onset may aid in identifying those least likely to have a complete recovery. No MUs at 4 to 6-months, or reduced units with strength that is not improving, portends a poor long-term outcome. In this population, peripheral nerve transfers may be considered sooner. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are three clinically distinct tumor predisposition syndromes with a shared tendency to develop peripheral and central nervous system neoplasms. Disease expression and complications of NF1, NF2, and SWN are highly variable, necessitating a multidisciplinary approach to care in order to optimize outcomes. This review will discuss the imaging appearance of NF1, NF2, and SWN and highlight the important role that imaging plays in informing management decisions in people with tumors associated with these syndromes. Recent technological advances, including the role of both whole-body and localized imaging strategies, routine anatomic and advanced magnetic resonance (MR) imaging sequences such as diffusion-weighted imaging (DWI) with quantitative apparent diffusion coefficient (ADC) mapping, and metabolic imaging techniques (MR spectroscopy and positron emission testing) are discussed in the context of the diagnosis and management of people with NF1, NF2, and SWN based on the most up-to-date clinical imaging studies. [ABSTRACT FROM AUTHOR]

The article presents a case study on a 19-year-old male baseball player struck in the head by a wooden baseball bat. The study focuses on the patient's skull fracture and brain contusion. While the patient did not lose consciousness following the injury, he later experienced slowed mental functioning and headaches.

Highlights • We assessed the efficacy of implantable markers for labeling peripheral nerves. • Semi-cylindrical silicone adhered to the epineurium yielded the best results. • Silicone produced a reliable T2-signal without impacting DTI tractography. Abstract Background Peripheral nerve injury is often followed by a highly variable recovery process with respect to both rapidity and efficacy. Identifying post-nerve injury phenomena is key to assessing the merit and timing of surgery as well as to tracking nerve recovery postoperatively. Diffusion Tensor Imaging (DTI) has been investigated in the clinical and research settings as a noninvasive technique to both assess and monitor each patient's unique case of peripheral nerve damage. New method We identify a MRI-suitable marker for tracking the exact site of either nerve injury or coaptation following surgical repair to aid with DTI analysis. Results Due to artefact and disruption of tractography, silver wire and microvascular clips were not suitable markers. AxoGuard®, 4-0 vicryl suture, and 10-0 polyamide suture, although detectable, did not produce a signal easily distinguished from post-surgical changes. Silicone was easily identifiable and stable in both the acute and delayed time points, exhibited negligible impact on DTI parameters, and possessed geometry to prevent nerve strangulation. Comparison with existing method Prior studies have not assessed the efficacy of other markers nor have they assessed silicone for potential artefact with DTI parameter analysis. Furthermore, this work demonstrates the reliability and compatibility of silicone in the delayed postoperative time period and includes its unique imaging appearance on high-resolution 11.7 MRI. Conclusion Semi-cylindrical silicone tubing can be used as a safe, reliable, and readily available radiological marker to visualize and monitor a region of interest on a rodent's peripheral nerve for aiding assessments with diffusion tensor imaging. [ABSTRACT FROM AUTHOR]

The article presents a case of an 18-year-old woman who was admitted due to pain in her right shoulder region, insidious in onset with no inciting event or glaring trauma. She underwent magnetic resonance (MR) imaging of the right upper extremity and open exploration of her right infraclavicular brachial plexus. She was eventually diagnosed with malignant glomus tumor of the brachial plexus and was treated with molecularly targeted therapy.

Introduction The current study describes the impact of surgery in preventing follow-up ipsilateral transient ischemic attacks (TIAs)/strokes in an East Coast North American cohort of patients with both moyamoya syndrome (MMS) and neurofibromatosis type 1 (NF1) (MMS-NF1). Methods We retrospectively reviewed records of patients with MMS and NF1 at the Johns Hopkins Medical Institutions from 1990–2014. Baseline characteristics and follow-up results including subsequent ipsilateral strokes were collected and compared between a revascularization group (group 1) and a conservatively managed group (group 2) on a per-hemisphere basis. Results A total of 9 patients (14 hemispheres) were included in our study. The average age of all patients at NF1 diagnosis was 2.1 ± 7.7 years, with 6 being female (66.7%). The average age of all patients at MMS diagnosis was 10.4 ± 16.6 years with the median age being 7.7 years (range: 4.1–27.0 years). Race distribution was: White ( n = 4, 44.4%), Black ( n = 3, 33.3%), and Asian ( n = 2, 22.2%). Four patients (44.5%) experienced cerebrovascular manifestations of MMS before MMS diagnosis. Group 1 was younger at MMS diagnosis ( P = 0.009), likely with a more acute symptom onset ( P = 0.077). Management strategies were: pial synangiosis ( n = 3, 21.4%) and conservative ( n = 11, 78.6%). During an average follow-up period of 6.28 ± 2.0 years, no ipsilateral TIAs/strokes were observed for group 1; conversely, 2 ipsilateral TIAs (18.2%) and 2 ipsilateral strokes (18.2%) occurred in group 2. Conclusions In our study of non-Asian patients with MMS-NF1, revascularization reduced stroke recurrence and deterioration of symptoms. However, more studies are warranted to further explore the role of revascularization procedures given the rarity of this disease combination. [ABSTRACT FROM AUTHOR]

Schwannomatosis, a rare form of neurofibromatosis, is characterized predominantly by multiple, often painful, schwannomas throughout the peripheral nervous system. The current standard of care for schwannomatosis is surgical resection. A major obstacle to schwannomatosis research is the lack of robust tumor cell lines. There is a great need for mechanistic and drug discovery studies of schwannomatosis, yet appropriate tools are not currently available. Schwannomatosis tumors are difficult to grow in culture as they survive only a few passages before senescence. Our lab has extensive experience in establishing primary and immortalized human Schwann cell cultures from normal tissue that retain their phenotypes after immortalization. Therefore we took on the challenge of creating immortalized human Schwann cell lines derived from tumors from schwannomatosis patients. We have established and fully characterized 2 schwannomatosis cell lines from 2 separate patients using SV40 virus large T antigen. One patient reported pain and the other did not. The schwannomatosis cell lines were stained with S100B antibodies to confirm Schwann cell identity. The schwannomatosis cells also expressed the Schwann cell markers, p75NTR, S100B, and NGF after multiple passages. Cell morphology was retained following multiple passaging and freeze/ thaw cycles. Gene expression microarray analysis was used to compare the cell lines with their respective parent tumors. No differences in key genes were detected, with the exception that several cell cycle regulators were upregulated in the schwannomatosis cell lines when compared to their parent tumors. This upregulation was apparently a product of cell culturing, as the schwannomatosis cells exhibited the same expression pattern of cell cycle regulatory genes as normal primary human Schwann cells. Cell growth was also similar between normal primary and immortalized tumor cells in culture. Accurate cell lines derived directly from human tumors will serve as invaluable tools for advancing schwannomatosis research, including drug screening. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome characterized by the development of multiple peripheral nerve sheath tumors, the majority of which are benign neurofibromas. However, malignant peripheral nerve sheath tumors (MPNSTs) occur with a 10 % lifetime risk in patients with NF1, often developing within a neurofibroma. When clinical suspicion for an MPNST arises, imaging with FDG PET and MRI is performed to characterize a peripheral tumor for potential malignancy. In this report, we describe a patient with NF-1 who had two peripheral tumors with similar features by PET, both suspicious for MPNST, but differing features by MRI, one of which was subsequently determined to be an MPNST and the second to be a schwannoma. [ABSTRACT FROM AUTHOR]

Objective: To assess the diagnostic accuracy and observer performance of 3-Tesla magnetic resonance neurography (MRN) in the evaluation of meralgia paresthetica (MP). Materials and methods: Two independent readers were blinded to the clinical diagnosis and evaluated the MRN studies of the pelvis of 11 patients with MP and 28 control participants. In each study, the lateral femoral cutaneous nerves were assessed for signal alteration and/or neuroma formation, indicating lateral femoral cutaneous neuropathy, at various levels along their course. Intra- and inter-observer reliability was evaluated. Results: Both readers exhibited substantial intraobserver agreement in detecting signal alterations and neuroma formation of the lateral femoral cutaneous nerve (LFCN). The readers demonstrated moderate interobserver agreement in detecting signal alteration of the LFCN and poor interobserver agreement in diagnosing neuroma formation. Sensitivity, specificity, positive predictive value, and negative predictive value of LFCN neuropathy diagnosis were ≥71 % and ≥94 % for both readers respectively. The diagnostic test accuracy was ≥90 % for both readers. Conclusion: 3-Tesla MRN provides reliable and accurate diagnostic evaluation of meralgia paresthetica. [ABSTRACT FROM AUTHOR]

Objective: To assess the feasibility, technical success, and effectiveness of high-resolution magnetic resonance (MR)-guided posterior femoral cutaneous nerve (PFCN) blocks. Materials and methods: A retrospective analysis of 12 posterior femoral cutaneous nerve blocks in 8 patients [6 (75 %) female, 2 (25 %) male; mean age, 47 years; range, 42-84 years] with chronic perineal pain suggesting PFCN neuropathy was performed. Procedures were performed with a clinical wide-bore 1.5-T MR imaging system. High-resolution MR imaging was utilized for visualization and targeting of the PFCN. Commercially available, MR-compatible 20-G needles were used for drug delivery. Variables assessed were technical success (defined as injectant surrounding the targeted PFCN on post-intervention MR images) effectiveness, (defined as post-interventional regional anesthesia of the target area innervation downstream from the posterior femoral cutaneous nerve block), rate of complications, and length of procedure time. Results: MR-guided PFCN injections were technically successful in 12/12 cases (100 %) with uniform perineural distribution of the injectant. All blocks were effective and resulted in post-interventional regional anesthesia of the expected areas (12/12, 100 %). No complications occurred during the procedure or during follow-up. The average total procedure time was 45 min (30-70) min. Conclusions: Our initial results demonstrate that this technique of selective MR-guided PFCN blocks is feasible and suggest high technical success and effectiveness. Larger studies are needed to confirm our initial results. [ABSTRACT FROM AUTHOR]

Sciatic nerve mass-like enlargement caused by peripheral nerve sheath tumors or neurocutaneous syndromes such as neurofibromatosis or schwannomatosis has been widely reported. Other causes of enlargement, such as from perineuroma, fibromatosis, neurolymphoma, amyloidosis, endometriosis, intraneural ganglion cyst, Charcot-Marie-Tooth disease, and chronic inflammatory demyelinating polyneuropathy are relatively rare. High-resolution magnetic resonance imaging (MRI) is an excellent non-invasive tool for the evaluation of such lesions. In this article, the authors discuss normal anatomy of the sciatic nerve and MRI findings of the above-mentioned lesions. [ABSTRACT FROM AUTHOR]

Sciatic nerve mass-like enlargement caused by peripheral nerve sheath tumors or neurocutaneous syndromes such as neurofibromatosis or schwannomatosis has been widely reported. Other causes of enlargement, such as from perineuroma, fibromatosis, neurolymphoma, amyloidosis, endometriosis, intraneural ganglion cyst, Charcot-Marie-Tooth disease, and chronic inflammatory demyelinating polyneuropathy are relatively rare. High-resolution magnetic resonance imaging (MRI) is an excellent non-invasive tool for the evaluation of such lesions. In this article, the authors discuss normal anatomy of the sciatic nerve and MRI findings of the above-mentioned lesions. [ABSTRACT FROM AUTHOR]

Study Design: This study was a retrospective chart review for patients undergoing operative treatment by Dr. Harvey Cushing at the Johns Hopkins Hospital between 1896 and 1912.Objective: To illustrate the early use of peripheral nerve anastomoses for the treatment of postpoliomyelitis paralysis.Summary Of Background Data: At the turn of the 20th century, poliomyelitis was recognized as a disease of neurons; neurological surgeons sought to find a surgical cure for the paralysis occurring after the disease onset. Peripheral nerve anastomoses were an attractive option employed during this time.Methods: Following IRB approval, and through the courtesy of the Alan Mason Chesney Archives, the surgical records of the Johns Hopkins Hospital from 1896 to 1912 were reviewed. A single case of peripheral nerve anastomosis for the treatment of postpoliomyelitis paralysis was selected for further analysis.Results: Cushing performed a multiple peripheral nerve anastomoses in a 3-year-old girl. Although the patient experienced no postoperative complications, there was no improvement in her function at the time of discharge from the hospital, and no long-term follow-up was available.Conclusion: While unsuccessful, Cushing's use of peripheral nerve anastomoses to restore motor function in the pediatric patient described here demonstrates his commitment to pushing the boundaries of neurological surgery at the turn of the 20th century. [ABSTRACT FROM AUTHOR]

Abstract: Background: The aim of this study was to evaluate the influence of patient and adenoma characteristics on 99mTc–methoxy isobutyl isonitrile (MIBI) scan performance in individuals diagnosed with primary hyperparathyroidism (PHP). Methods: Records of patients undergoing parathyroidectomy for PHP over 6 years at a single center were reviewed. Results: The overall true-positive (TP) rate for 99mTc-MIBI scans was 56%. Adenomas sized 1.9 to 3.5 cm were more likely to have TP scans than 0.3-cm to 1.8-cm adenomas (74% vs 40%, P < .001). Preoperative ionized calcium levels between 1.49 and 1.72 mmol/L were more likely to have TPs than levels between 1.27 and 1.48 mmol/L (65% vs 47%, P < .05). No single class of medication was shown to significantly effect TP rates. A decrease in TP rate was observed for larger adenomas in patients on ≥1 medication (74% vs 65%, P = .05). Conclusions: In PHP, 99mTc-MIBI scan positivity is most related to adenoma size and preoperative ionized calcium level. [Copyright &y& Elsevier]

Peripheral nerve injury may lead to the formation of a painful neuroma. In patients, palpating the tissue overlying a neuroma evokes paraesthesias/dysaesthesias in the distribution of the injured nerve. Previous animal models of neuropathic pain have focused on the mechanical hyperalgesia and allodynia that develops at a location distant from the site of injury and not on the pain from direct stimulation of the neuroma. We describe a new animal model of neuroma pain in which the neuroma was located in a position that is accessible to mechanical testing and outside of the innervation territory of the injured nerve. This allowed testing of pain in response to mechanical stimulation of the neuroma (which we call neuroma tenderness) independent of pain due to mechanical hyperalgesia. In the tibial neuroma transposition (TNT) model, the posterior tibial nerve was ligated and transected in the foot just proximal to the plantar bifurcation. Using a subcutaneous tunnel, the end of the ligated nerve was positioned just superior to the lateral malleolus. Mechanical stimulation of the neuroma produced a profound withdrawal behavior that could be distinguished from the hyperalgesia that developed on the hind paw. The neuroma tenderness (but not the hyperalgesia) was reversed by local lidocaine injection and by proximal transection of the tibial nerve. Afferents originating from the neuroma exhibited spontaneous activity and responses to mechanical stimulation of the neuroma. The TNT model provides a useful tool to investigate the differential mechanisms underlying the neuroma tenderness and mechanical hyperalgesia associated with neuropathic pain. [ABSTRACT FROM AUTHOR]

Abstract: Peripheral nerve injury may lead to the formation of a painful neuroma. In patients, palpating the tissue overlying a neuroma evokes paraesthesias/dysaesthesias in the distribution of the injured nerve. Previous animal models of neuropathic pain have focused on the mechanical hyperalgesia and allodynia that develops at a location distant from the site of injury and not on the pain from direct stimulation of the neuroma. We describe a new animal model of neuroma pain in which the neuroma was located in a position that is accessible to mechanical testing and outside of the innervation territory of the injured nerve. This allowed testing of pain in response to mechanical stimulation of the neuroma (which we call neuroma tenderness) independent of pain due to mechanical hyperalgesia. In the tibial neuroma transposition (TNT) model, the posterior tibial nerve was ligated and transected in the foot just proximal to the plantar bifurcation. Using a subcutaneous tunnel, the end of the ligated nerve was positioned just superior to the lateral malleolus. Mechanical stimulation of the neuroma produced a profound withdrawal behavior that could be distinguished from the hyperalgesia that developed on the hind paw. The neuroma tenderness (but not the hyperalgesia) was reversed by local lidocaine injection and by proximal transection of the tibial nerve. Afferents originating from the neuroma exhibited spontaneous activity and responses to mechanical stimulation of the neuroma. The TNT model provides a useful tool to investigate the differential mechanisms underlying the neuroma tenderness and mechanical hyperalgesia associated with neuropathic pain. [Copyright &y& Elsevier]

An L5 spinal nerve ligation (SNL) in the rat leads to behavioral signs of mechanical hyperalgesia. Our recent finding that an L5 dorsal root rhizotomy did not alter the mechanical hyperalgesia following an L5 SNL suggests that signals originating from the proximal stump of the injured nerve are not essential. We postulate that Wallerian degeneration of L5 nerve fibers leads to altered properties of adjacent intact nociceptive afferents. To investigate the role of degeneration in sensory versus motor fibers, five injury models were examined concurrently in a blinded fashion. An L5 ganglionectomy produced a selective lesion of sensory fibers. An L5 ventral root rhizotomy produced a selective lesion of motor fibers. The three control lesions included: (1) SNL with L5 dorsal root rhizotomy; (2) L5 dorsal root rhizotomy; and (3) exposure of the L5 roots without transection (sham). Paw withdrawal thresholds to mechanical stimuli were measured at three sites in the rat hindpaw corresponding to the L3, L4, and L5 dermatomes. Both the ganglionectomy and the ventral rhizotomy produced a significant, lasting (≥20d) decrease of mechanical withdrawal thresholds that was comparable to that produced by the SNL lesion. The L5 dorsal rhizotomy, by itself, produced a short lasting (≤6 d) decrease in thresholds, whereas the sham procedure did not produce a significant change. We propose that interactions between degenerating motor and sensory fibers of the injured nerve and intact afferent fibers of neighboring nerves play a critical role for both initiation and maintenance of mechanical hyperalgesia in neuropathic pain. [Copyright &y& Elsevier]

Neurofibromatosis 1 is a hereditary syndrome characterized by the development of numerous benign neurofibromas, a small subset of which progress to malignant peripheral nerve sheath tumors (MPNSTs). To better understand the genetic basis for MPNSTs, we performed genome-wide or targeted sequencing on 50 cases. Sixteen MPNSTs but none of the neurofibromas tested were found to have somatic mutations in SUZ12, implicating it as having a central role in malignant transformation. [ABSTRACT FROM AUTHOR]

Objective: To determine whether oral corticosteroids can prevent early deterioration in patients with acquired immunodeficiency syndrome (AIDS)-related Pneumocystis carinii pneumonia.Design: Prospective, double-blind, placebo-controlled, randomized trial.Methods: Included patients were having their first P. carinii pneumonia episode, had no other known active pulmonary pathology, had no contraindications for corticosteroids, received no anti-P. carinii pneumonia medications for more than 48 hours, and had oxygen saturation by pulse oximetry of 85% or more and less than 90% at rest or a 5-percentage-point decrease in oxygen saturation with exercise while breathing room air. Consenting subjects were randomly assigned to prednisone, 60 mg/d for 7 days, followed by a progressive tapering over 14 days or to an identical placebo. Early deterioration, the endpoint of the trial, was defined as a 10% decrease in baseline oxygen saturation on day 3 or thereafter. The cases of patients developing early deterioration were considered to be failures of treatment; the code was then broken, and the patient's treatment was left to the judgment of the treating physician. Sequential analysis was done with the primary variable being development of early deterioration.Results: The trial was terminated 5 April 1989 on the basis of the sequential analysis when a total of nine episodes of early deterioration had occurred in the first 37 patients at an overall significance level of P = 0.0136. A total of 8 of 19 placebo-treated patients (42.1%) developed early deterioration compared with only 1 of 18 patients (5.6%) treated with corticosteroids. Baseline characteristics were not statistically different between the two treatment groups. The adjusted odds ratio for the treatment effect was 5.87 (95% CI, 1.27 to 27.4). The adjusted point estimates for the probability of early deterioration in the placebo and corticosteroid groups were 43% and 12%, respectively. All 8 patients in the placebo group developing early deterioration recovered rapidly with addition of corticosteroid treatment. The single patient with early deterioration in the corticosteroid group died on day 6 from overwhelming P. carinii pneumonia, as documented at autopsy. The corticosteroid group had an increased exercise tolerance on day 7 that persisted at day 30.Conclusion: Oral corticosteroids prevent early deterioration and increase exercise tolerance in patients with moderately severe AIDS-related P. carinii pneumonia. [ABSTRACT FROM AUTHOR]

Schwannomatosis is a multiple tumor syndrome in which patients develop benign tumors along peripheral nerves throughout the body. The first symptom with which schwannomatosis patients often present, prior to discovery of tumors, is pain. This pain can be debilitating and is often inadequately alleviated by pharmacological approaches. Schwannomatosis-associated pain can be localized to the area of a tumor, or widespread. Moreover, not all tumors are painful, and the occurrence of pain is often unrelated to tumor size or location. We speculate that some individual tumors, but not others, secrete factors that act on nearby nerves to augment nociception by producing neuronal sensitization or spontaneous neuronal firing. We created cell lines from human SWN tumors with varying degrees of pain. We have found that conditioned medium (CM) collected from painful SWN tumors, but not that from nonpainful SWN tumors, sensitized DRG neurons, causing increased sensitivity to depolarization by KCl, increased response to noxious TRPV1 and TRPA1 agonists and also upregulated the expression of pain-associated genes in DRG cultures. Multiple cytokines were also detected at higher levels in CM from painful tumors. Taken together our data demonstrate a differential ability of painful versus non-painful human schwannomatosis tumor cells to secrete factors that augment sensory neuron responsiveness, and thus identify a potential determinant of pain heterogeneity in schwannomatosis. [ABSTRACT FROM AUTHOR]

The presence of Alternative lengthening of telomeres (ALT) and/or ATRX loss, as well as the role of other telomere abnormalities, have not been formally studied across the spectrum of NF1-associated solid tumors. Utilizing a telomere-specific FISH assay, we classified tumors as either ALT-positive or having long (without ALT), short, or normal telomere lengths. A total of 426 tumors from 256 NF1 patients were evaluated, as well as 99 MPNST tumor samples that were sporadic or of unknown NF1 status. In the NF1-glioma dataset, ALT was present in the majority of high-grade gliomas: 14 (of 23; 60%) in contrast to only 9 (of 47; 19%) low-grade gliomas (p = 0.0009). In the subset of ALT-negative glioma cases, telomere lengths were estimated and we observed 17 (57%) cases with normal, 12 (40%) cases with abnormally long, and only 1 (3%) case with short telomeres. In the NF1-associated malignant nerve sheath tumor (NF1-MPNST) set (n = 75), ALT was present in 9 (12%). In the subset of ALT-negative NF1-MPNST cases, telomeres were short in 9 (38%), normal in 14 (58%) and long in 1 (3%). In the glioma set, overall survival was significantly decreased for patients with ALT-positive tumors (p < 0.0001). In the NF1-MPNST group, overall survival was superior for patients with tumors with short telomeres (p = 0.003). ALT occurs in a subset of NF1-associated solid tumors and is usually restricted to malignant subsets. In contrast, alterations in telomere lengths are more prevalent than ALT. [ABSTRACT FROM AUTHOR]

A letter to the editor in response to the article "Severe brachial plexus palsy in women without shoulder dystocia," by M. Torki, et al., published in the 2012 issue of the journal are presented.