Axillary nerve lesions after open reduction and internal fixation of proximal humeral fractures through an extended lateral deltoid-split approach: electrophysiological findings.

BACKGROUND: Axillary nerve injuries after shoulder surgery are rare. In most studies, the frequency of injury is usually determined using clinical examinations, but results from intraoperative neuromonitoring studies have revealed higher than expected rates. Few studies have investigated this topic. Our aim was to determine the frequency of axillary nerve lesions after open reduction and internal fixation of proximal humeral fractures by using electrophysiological assessments and to provide a review of the relevant literature. METHODS: This was a retrospective cohort study of 76 consecutive patients who received open reduction and internal fixation of a proximal humeral fracture using a locking plate through a deltoid-splitting approach. We performed a clinical and electrophysiological examination at a minimum follow-up time of 12 months. Functional results were assessed according to the Constant-Murley and Disabilities of the Arm, Shoulder and Hand scores. Electrophysiological examinations comprised electromyography, electroneurography, and motor and somatosensory evoked potentials. The main outcome was the frequency of axillary nerve lesions. RESULTS: Forty patients were monitored for an average of 28 months. The mean raw Constant-Murley score was 61 points, the age- and gender-adjusted score was 71%, and the mean Disabilities of the Arm, Shoulder and Hand score was 33 points. Neurapraxia occurred in 1 patient, axonotmesis with incomplete reinnervation occurred in 3, and complete reinnervation occurred in 3. The latter group was classified as having a temporary axillary nerve lesion. CONCLUSIONS: The 10% rate of permanent axillary nerve lesions in our cohort is higher than expected based on the clinical examination. Electrophysiological assessment is therefore more appropriate to detect axillary nerve injuries.

Peripheral nerve ultrasound in amyotrophic lateral sclerosis phenotypes.

INTRODUCTION: In this study we sought to determine the cross-sectional area (CSA) of peripheral nerves in patients with distinct subtypes of amyotrophic lateral sclerosis (ALS). METHODS: Ulnar and median nerve ultrasound was performed in 78 ALS patients [classic, n = 21; upper motor neuron dominant (UMND), n = 14; lower motor neuron dominant (LMND), n = 20; bulbar, n = 15; primary lateral sclerosis (PLS), n = 8] and 18 matched healthy controls. RESULTS: Compared with controls, ALS patients had significant, distally pronounced reductions of ulnar CSA (forearm/wrist level) across all disease groups, except for PLS. Median nerve CSA (forearm/wrist level) did not differ between controls and ALS. CONCLUSION: Ulnar nerve ultrasound in ALS subgroups revealed significant differences in distal CSA values, which suggests it has value as a marker of LMN involvement. Its potential was particularly evident in the UMND and PLS groups, which can be hard to separate clinically, yet their accurate separation has major prognostic implications.

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.

INTRODUCTION: In this study we compare the ultrasound features in the median nerve in patients with different types of Charcot-Marie-Tooth (CMT) disease and hereditary neuropathies with liability to pressure palsies (HNPP) as a typical entrapment neuropathy. METHODS: Median nerve ultrasound and conduction studies were performed in patients with CMT1A (n = 12), MFN2-associated CMT2A (n = 7), CMTX (n = 5), and HNPP (n = 5), and in controls (n = 28). RESULTS: Median nerve cross-sectional area (CSA) was significantly increased in CMT1A, whereas, in axonal CMT2A, fascicle diameter (FD) was enlarged. CSA correlated with nerve conduction slowing in CMT1A and with axonal loss, as shown by motor and sensory nerve amplitudes in both CMT1A and CMT2A. A relatively low wrist-to-forearm-ratio (WFR <0.8) or a relatively high WFR (>1.8) appeared to be unlikely in MFN2 and Cx32 mutations of CMT2A and CMTX, respectively. CONCLUSION: Differences in CSA, FD, and WFR of the median nerve can be helpful in defining subtypes of hereditary neuropathies.

Feasibility assessment of patient-controlled EEG home-monitoring: More results from the HOMEONE study.

OBJECTIVE: The feasibility phase of the HOME (Home-Monitoing and Education) project aims to show the practical feasibility of Electroencephalography (EEG)home-monitoring using a patient-controlled mobile system. Its objective is to assess the potential diagnostic and therapeutic yields of home-monitoring compared to conventional healthcare. METHODS: 16 office-based practitioners chose 97 patients and recorded standard 20-minute EEGs using conventional recorders. After training, the same patients used a patient-controlled mobile dry electrode EEG system in their home environment. The practitioners in charge and two additional raters assessed all recordings. We conducted inter-rater and intra-rater comparisons between the diagnostic findings. RESULTS: 89 patients successfully conducted home-monitoring recordings. The intra-rater comparison results for the diagnostic findings of the conventional recordings and the patient-made recordings show a fair Cohen's kappa value (0.21). Additionally, we documented a change of patient management in 9 cases. CONCLUSIONS: The feasibility of EEG home-monitoring using a patient-controlled device is confirmed. The yield of EEG home-monitoring comprises information that can influence patient management. SIGNIFICANCE: Patient-controlled EEG home-monitoring is feasible as part of routine care for neurological outpatients as its technical efficacy and practical feasibility are shown and significantly positive effects on patient management are evidenced.

Assessment of the technical usability and efficacy of a new portable dry-electrode EEG recorder: First results of the HOMEONE study.

OBJECTIVES: The HOME project is intended to provide evidence of diagnostic and therapeutic yield of a patient-controlled EEG home-monitoring for neurological outpatients. METHODS: This study evaluated the technical and practical usability and efficacy of a new portable dry-electrode EEG recorder in comparison to conventional EEG devices based on technical assessments and inter-rater comparisons of EEG record examinations of office-based practitioners and two experienced neurologists. RESULTS: The technical assessment was based on channel-wise comparisons of band power values derived from power spectra as observed in two recording modalities. Slight yet significant differences were observed only in the Delta-frequency band (1.5-4 Hz). The fraction of automatically detected artifact segments was larger in the new portable recordings than in conventional recordings (20% vs. 11%, median). Overall, 93% of raters' stated diagnostic findings gathered from conventional devices were concordant with stated diagnostic findings gathered from the new portable device. CONCLUSION: The new EEG device was shown to have technical comparability to and a high concordance rate of diagnostic findings with conventional EEG devices. SIGNIFICANCE: The new portable dry-electrode EEG device is suitable to meet the HOME projects' goal of establishing a patient-controlled EEG home-monitoring in the routine care of neurological outpatients. TRIAL REGISTRATION: DRKS DRKS00012685. Registered 09 August 2017, retrospectively registered.

Diagnostic and therapeutic yield of a patient-controlled portable EEG device with dry electrodes for home-monitoring neurological outpatients-rationale and protocol of the HOMEONE pilot study.

BACKGROUND: The HOMEONE study is part of the larger HOME project, which aims to provide evidence of diagnostic and therapeutic yield ("change of management") of a patient-controlled portable EEG device with dry electrodes for the purposes of EEG home-monitoring neurological outpatients. METHODS: The HOMEONE study is the first step in the process of investigating whether outpatient EEG home-monitoring changes the diagnosis and treatment of patients in comparison to conventional EEG ("change of management"). Both EEG devices (conventional and portable) will be systematically compared via a two-phase intra-individual assessment.In the first phase (pilot study phase), both EEG devices will be used within neurologist practices (all other things being equal). This pilot study (involving 130 patients) will evaluate the technical usability and efficacy of the new portable dry electrode EEG recorder in comparison to conventional EEG devices. Judgements will be based on technical assessments and EEG record examinations of private practitioners and two experienced neurologists (percent of concordant readings and kappa values).The second phase (feasibility study phase) aims to assess patients' acceptability and feasibility of the EEG home-monitoring and will provide insights into the extent diagnostic and therapeutic yields can be expected.For this purpose, a conventional EEG will be recorded in neurologist practices. Thereafter, the practice staff will instruct the patients on how the portable EEG device functions. The patients will subsequently use the devices in their home environment.The evaluation will compare the before and after documented diagnostic findings and the therapeutic consequences of the private practitioners with those of two experienced neurologists. DISCUSSION: To the best of our knowledge, this will be the first study of its kind to examine new approaches to diagnosing unclear consciousness disorders or other disorders of the CNS or the cardiovascular system through the use of a patient-controlled portable EEG device with dry electrodes for the purpose of home-monitoring neurological outpatients. If the two phases of the HOMEONE study provide sufficient evidence of diagnostic and therapeutic yields, this would justify (indication-specific) full-scale randomized controlled trials or observational studies. TRIAL REGISTRATION: DRKS DRKS00012685. Registered 9 August 2017, retrospectively registered.

24-months results in two adults with Pompe disease on enzyme replacement therapy.

OBJECTIVE: Late-onset Pompe disease is a slowly progressive disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Since 2006, an intravenous enzyme replacement therapy (ERT) with Myozyme™ (alglucosidase alfa) is available but long-term experience with ERT in late-onset Pompe disease is still limited. METHODS: Two adult patients with impaired walking ability and disease duration of 10 and 13 years, respectively received ERT over a period of 24 months. Clinical and functional parameters including dynamometer-based assessment of proximal muscle strength were registered longitudinally. RESULTS: In both patients some gain in function and physical endurance could be observed which was collaborated by stable dynamometer tests. No serious adverse events occurred and no patient required de novo ventilation. CONCLUSION: The clinical results from our data base imply that long term enzyme replacement therapy seems to somewhat affect functionality and quality of life and can stabilize the otherwise progressive disease course in patients with late-onset Pompe disease.

A case of influenza vaccination induced Guillain Barré syndrome with normal cerebrospinal fluid protein and improvement on treatment with corticosteroids.

We report a case of a 62-y-old male developing an influenza vaccination induced Guillain Barré syndrome (GBS) showing all clinical and neuropathological symptoms of GBS except the characteristic elevation of protein levels in the cerebrospinal fluid. The patient improved under treatment with 100 mg prednisolone. In these cases the administration of corticosteroids might be considered as a treatment option as they might represent a subgroup of GBS with a different immunological response pattern.

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.

Facioscapulohumeral muscular dystrophy (FSHD) is associated with the deletion of a variable number of 3.3-kb subunits of a tandemly arranged repeat (D4Z4) on chromosome 4q35. EcoRI/BlnI fragments in the range of 10-35 kb are currently defined as disease-associated. Diagnosis of FSHD is frequently complicated by interchromosomal exchange with a homologous locus on 10q26. We present clinical and laboratory data of six subjects from two unrelated families with a marked FSHD phenotype and EcoRI/BlnI fragments of 39 and 33 kb, respectively. Origin on chromosome 4q35 was confirmed by haplotype analysis in the first family and was supported by pulsed field gel electrophoresis data in the second family. Our data further confirm the existence of a region of overlap of normal and pathological fragments. Fragments from this region can obviously be associated with marked FSHD phenotypes. Furthermore, application of linked markers and resolution of all EcoRI/BlnI fragments by pulsed field gel electrophoresis in addition to routine laboratory tests considerably augments the information obtained from molecular tests, upon which genetic counselling can then be based.

Hippocampal N-acetyl aspartate levels do not mirror neuronal cell densities in creatine-supplemented epileptic rats.

For neuroprotective therapy of neurodegenerative diseases creatine treatment has gained special interest because creatine has been shown to cross the blood-brain barrier, accumulate in the human brain in vivo and cause delayed neuronal cell death in a large number of animal models. Here, we used the pilocarpine model of temporal lobe epilepsy to determine whether creatine administration is able to attenuate the epilepsy-associated decrease in hippocampal N-acetyl aspartate (NAA) concentrations, impairment of mitochondrial function and neuronal cell loss. In vivo1H-NMR spectroscopy showed, in epileptic rats after creatine administration, higher hippocampal NAA concentrations, suggesting improved neuronal survival. However, in vitro observation of hippocampal slices from creatine-treated epileptic rats revealed a more pronounced loss of pyramidal neurons and decrease in activity of mitochondrial enzymes in hippocampal subfields. This indicates that NAA concentrations measured by in vivo1H-NMR spectroscopy reflect alterations of metabolism rather than neuronal cell densities. Our data indicate an adverse effect of creatine on neuronal survival under conditions of enhanced neuronal activity.