Effects of high resistance muscle training on corticospinal output during motor fatigue assessed by transcranial magnetic stimulation.

Central fatigue refers to a reduced drive of motor cortical output during exercise, and performance can be enhanced after training. However, the effects of training on central fatigue remain unclear. Changes in cortical output can be addressed non-invasively using transcranial magnetic stimulation (TMS).

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey.

Background: Early diagnosis is of substantial benefit for patients with Pompe disease. Yet underdiagnosing and substantial diagnostic delay are still frequent and the determinants of this are unknown. This study is the first to systematically investigate the diagnostic odyssey in Pompe disease from patients', parents', and physicians' perspectives.

Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale.

Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen accumulation in all organs due to ineffective glycogen clearance by the encoded enzyme. Only one randomized trial demonstrated beneficial effects of respiratory function and meters walked in the 6-min walking test with enzyme replacement therapy (ERT).

Nutrient pattern analysis in critically ill patients using Omics technology (NAChO) - Study protocol for a prospective observational study.

Introduction: Intensive care unit-acquired weakness (ICU-AW) is often observed in critically ill patients with prolonged intensive care unit (ICU) stay. We hypothesized that evolving metabolic abnormalities during prolonged ICU stay are reflected by changing nutrient patterns in blood, urine and skeletal muscle, and that these patterns differ in patients with/without ICU-AW and between patients with/without sepsis.

Methods: In a prospective single-center observational trial, we aim to recruit 100 critically ill patients (ICU length of stay ≥ 5 days) with severe sepsis/septic shock ("sepsis group", n = 50) or severe head trauma/intracerebral hemorrhage ("CNS group", n = 50).

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a prominent post-translational modification of neuronal microtubules. Defective tubulin polyglutamylation was first linked to neurodegeneration in the () mouse, which lacks deglutamylase CCP1, displays massive cerebellar atrophy, and accumulates abnormally glutamylated tubulin in degenerating neurons. We found biallelic rare and damaging variants in the gene encoding CCP1 in 13 individuals with infantile-onset neurodegeneration and confirmed the absence of functional CCP1 along with dysregulated tubulin polyglutamylation.

36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry.

Introduction: Although not curative, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase enzyme has shown to be effective in the treatment of late-onset Pompe disease (LOPD). For this potentially life-long treatment, little is known on the clinical effect of cessation and resuming ERT. Due to a Swiss supreme court decision on ERT reimbursement, a temporary stop of ERT occurred in our study population.

Neuromonitoring During Robotic Cochlear Implantation: Initial Clinical Experience.

During robotic cochlear implantation a drill trajectory often passes at submillimeter distances from the facial nerve due to close lying critical anatomy of the temporal bone. Additional intraoperative safety mechanisms are thus required to ensure preservation of this vital structure in case of unexpected navigation system error. Electromyography based nerve monitoring is widely used to aid surgeons in localizing vital nerve structures at risk of injury during surgery.

Estimation of voluntary elicited motor neuron discharge using a peripheral nerve collision technique at different contraction strengths.

Objective: To estimate non-invasively the amount, recruitment pattern and discharge frequency of spinal motor neurons (MN) at contraction strength >20% of maximal voluntary contraction (MVC) of small hand muscles.

Methods: A peripheral collision technique was used and consisted of supramaximal electrical stimuli at Erb's point and at the wrist, synchronizing descending volleys of action potential during voluntary isometric contractions of the abductor digiti minimi muscle at 20-80% of MVC strength and 1-8 s of contraction duration. Responses of 13 healthy volunteers were quantified and analysed using a recently described model of MN behaviour.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

Background And Purpose: Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in adult patients were developed and reported here.

Methods: Three consensus meetings were organized through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease.

Ultrasound-Guided Electrodes for Conduction Studies of the Saphenous Nerve.

Purpose: Saphenous nerve conduction studies are difficult, because the nerve is hard to localize and evoked responses are small. Ultrasound imaging may assist in the accurate localization and optimal positioning of surface (SE) and needle electrodes (NE).

Methods: The study population included 39 subjects and was divided into two groups.

Sural nerve conduction studies using ultrasound-guided needle positioning: Influence of age and recording location.

Introduction: The aim of this study was to compare results of orthodromic sural nerve conduction studies (NCS) using ultrasound-guided needle positioning (USNP) to those of surface electrode recordings.

Methods: Fifty-one healthy subjects, aged 24-80 years, divided into 5 age groups, were examined. Electrical stimuli were applied behind the lateral malleolus.

Guidelines on dermatomyositis--excerpt from the interdisciplinary S2k guidelines on myositis syndromes by the German Society of Neurology.

The present guidelines on dermatomyositis (DM) represent an excerpt from the interdisciplinary S2k guidelines on myositis syndromes of the German Society of Neurology (available at www.awmf.org).

A Neuromonitoring Approach to Facial Nerve Preservation During Image-guided Robotic Cochlear Implantation.

Hypothesis: A multielectrode probe in combination with an optimized stimulation protocol could provide sufficient sensitivity and specificity to act as an effective safety mechanism for preservation of the facial nerve in case of an unsafe drill distance during image-guided cochlear implantation.

Background: A minimally invasive cochlear implantation is enabled by image-guided and robotic-assisted drilling of an access tunnel to the middle ear cavity. The approach requires the drill to pass at distances below 1  mm from the facial nerve and thus safety mechanisms for protecting this critical structure are required.

[Myositides: What is the current situation?].

This article gives a review of the classification, diagnostic procedures and treatment of idiopathic inflammatory myopathies from a neurological point of view. The myositis syndromes can be subdivided into four groups, polymyositis (PM), dermatomyositis (DM), inclusion body myositis (IBM) and necrotizing myopathy (NM), which substantially differ clinically and pathophysiologically. Myositis may also occur in association with cancer or autoimmune systemic diseases (overlap syndrome).

Histidine 114 Is Critical for ATP Hydrolysis by the Universally Conserved ATPase YchF.

GTPases perform a wide range of functions, ranging from protein synthesis to cell signaling. Of all known GTPases, only eight are conserved across all three domains of life. YchF is one of these eight universally conserved GTPases; however, its cellular function and enzymatic properties are poorly understood.

Acromioclavicular joint dislocations: radiological correlation between Rockwood classification system and injury patterns in human cadaver species.

Introduction: The classification system of Rockwood and Young is a commonly used classification for acromioclavicular joint separations subdividing types I-VI. This classification hypothesizes specific lesions to anatomical structures (acromioclavicular and coracoclavicular ligaments, capsule, attached muscles) leading to the injury. In recent literature, our understanding for anatomical correlates leading to the radiological-based Rockwood classification is questioned.

Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.

Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) in late-onset Pompe disease is moderately effective. Little is known about the clinical course after treatment termination and the resumption of ERT. In Switzerland, rhGAA therapy for Pompe disease was temporarily withdrawn after the federal court judged that the treatment costs were greatly out of proportion compared to the benefits.

Feasibility of using EMG for early detection of the facial nerve during robotic direct cochlear access.

Hypothesis: Facial nerve monitoring can be used synchronous with a high-precision robotic tool as a functional warning to prevent of a collision of the drill bit with the facial nerve during direct cochlear access (DCA).

Background: Minimally invasive direct cochlear access (DCA) aims to eliminate the need for a mastoidectomy by drilling a small tunnel through the facial recess to the cochlea with the aid of stereotactic tool guidance. Because the procedure is performed in a blind manner, structures such as the facial nerve are at risk.

Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease.

Glycogen storage disease type II is a rare multi-systemic disorder characterised by an intracellular accumulation of glycogen due a mutation in the acid alpha glucosidase (GAA) gene. The level of residual enzyme activity, the genotype and other yet unknown factors account for the broad variation of the clinical phenotype. The classical infantile form is characterised by severe muscle hypotonia and cardiomyopathy leading to early death.

The latency distribution of motor evoked potentials in patients with multiple sclerosis.

Objective: To compare the individual latency distributions of motor evoked potentials (MEP) in patients with multiple sclerosis (MS) to the previously reported results in healthy subjects (Firmin et al., 2011).

Methods: We applied the previously reported method to measure the distribution of MEP latencies to 16 patients with MS.

Corticospinal output during muscular fatigue differs in multiple sclerosis patients compared to healthy controls.

Background: In multiple sclerosis (MS), fatigue is a common and often disabling symptom. It has multiple causes with central motor fatigue playing an important role.

Objective: The objective of this study was to analyse the central motor conduction changes in relation to muscle contraction force during muscle fatigue and recovery in MS patients compared to healthy controls.

Reproducibility of sensory nerve conduction studies of the sural nerve using ultrasound-guided needle positioning.

Introduction: In this study we sought to evaluate the reproducibility of sensory nerve conduction studies (NCS) using ultrasound-guided needle positioning (USNP).

Methods: Orthodromic NCS of the sural nerve using needle electrodes with USNP as well as surface electrodes were conducted twice in 20 healthy volunteers.

Results: The mean sensory nerve action potential (SNAP) amplitude in the initial examination was 39.

A method to measure the distribution of latencies of motor evoked potentials in man.

Objective: To measure the intra-individual distribution of the latencies of motor evoked potentials (MepL) using transcranial magnetic stimulation.

Methods: We used the triple stimulation technique (TST) to quantify the proportion of excited spinal motor neurons supplying the abductor digiti minimi muscle in response to a maximal magnetic brain stimulus (Magistris et al., 1998).

Sciatic neuropathy after body contouring surgery in massive weight loss patients.

To date, obesity affects a substantial population in industrialised countries. Due to the increased awareness of obesity-related morbidity, efficient dietary regimens and the recent successes with bariatric surgery, there is now a high demand for body contouring surgery to correct skin abundancies after massive weight loss. The known risks for this type of surgery are mainly wound-healing complications, and, more rarely, thromboembolic or respiratory complications.