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Repetitive nerve stimulation as electrophysiologic biomarker in muscle cramps
Abstracts 2016 / Neuromuscular Disorders 26 (2016) S88–S212 room. In control group total exacerbations were 29, hospitalizations 14, four of which in emergency room. Our TA program for NMD pediatric patients requiring HMV is showing promising results in terms of home management and reduction of hospital admissions. However, further data are being collected throughout the second year. http://dx.doi.org/10.1016/j.nmd.2016.06.228
P.209 Living well with a neuromuscular disease: A newly established course for patients and their families J. Ashworth 1, N. Doran 1, E. Burrows 1, A. Morgan 1, A. Majumdar 1, S. Thomas-Unsworth 2 1 SW Neuromuscular Network, Bristol, UK; 2 Bristol Children’s Hospital, University Hospital Bristol, UK The South West Neuromuscular ODN aims to develop and establish world class NHS services for children and adults living with rare neuromuscular conditions in the South West. Despite as a service supporting a wide range of conditions under the Neuromuscular Service Specification, we are very aware that many of the same emotional and psychological factors impact on physical symptoms and coping strategies for patients. This was a small study to establish whether a multidisciplinary course would be appropriate and useful to support patients with these challenges. We were also very keen to facilitate sharing and support amongst participants as a way to offer further peer and social support. The ‘Living Well’ course ran over 6 sessions (Autumn, 2015) and covered the following topics; challenges of living with a neuromuscular condition, emotional impact of living with a neuromuscular condition, improving sleep, managing thoughts and feelings/mindfulness, understanding pain, ways to manage fatigue and self-management and goal setting. The course was facilitated by a counselling psychologist working in the neuromuscular service with input from the specialist physiotherapist and neuromuscular advisor from the team. Each session ran for 2 hours at Southmead Hospital, North Bristol NHS Trust and included the first hour of education on the particular topic following by an hour of psycho-education/open discussion amongst group attendees. 7 participants took part in the course with a range of neuromuscular diagnoses and levels of mobility and functional ability. All attendees reported that they would be likely or extremely likely to recommend this course to friends or family who needed similar care. Expectations of attending the course were met in 6 out of 7 attendees. 4 out of the 6 sessions were rated as being useful or extremely useful with the other 2 being at least satisfactory for all. http://dx.doi.org/10.1016/j.nmd.2016.06.229
P.210 Repetitive nerve stimulation as electrophysiologic biomarker in muscle cramps J. Shin, D. Yoo, D. Kim, Y. Hong, J. Sung Seoul National University Hospital, Seoul, Republic of Korea Repetitive nerve stimulation (RNS) has been used to elicit muscle cramp, and the cramp threshold frequency has been proposed to well correlate with the occurrence of muscle cramps. Identification of after-discharges following RNS was also claimed to be useful for diagnosis of muscle cramps, but its role as an electrophysiologic biomarker of muscle cramps remains unclear. Frequency and severity of muscle cramp were measured by a patient-reported cramp diary. Supramaximal stimulation (initial pulse duration of 0.5 ms) was given to the posterior-tibial with the frequency of 5 Hz either up to 29 Hz or until abnormal after-discharges occur by 2 Hz increments. The abnormal after-discharge was defined as clearly distinct from the baseline motor activity with 1 or more second duration. What had much greater frequency and very high amplitudes at the onset was interpreted as a cramp potential. For investigation into frequency and duration effects of abnormal discharges, we applied to additional stimulation. After-discharge and cramp potential were strong agreements
S149
[54.8% all the same (κ = 0.739, p = 0.00), 37.1 and 33.9% (κ = 0.855,p = 0.00)]. A stimulation frequency causing after-discharges was variable. The presence of after-discharges and threshold frequencies had no relation with clinical cramp parameters, such as mean cramp times per day, cramp frequency, pain scale, and presence of the etiology. In addition, the power of after-discharges was significantly correlated with the pulse duration, but not with stimulation frequency. After-discharges/cramp potentials seem to be relatively common in patients with muscle cramps. Duration of the stimuli have an influence on the consequent alteration ratio of abnormal after-discharges in RNS. Therefore, if it is tolerable in patients with cramp symptoms, the longer duration of stimuli, and the better establishment of optimal stimuli duration may have a role as a diagnostic or therapeutic biomarker for muscle cramp. http://dx.doi.org/10.1016/j.nmd.2016.06.230
P.211 Paravertebral muscles in adolescent idiopathic scoliosis: mRNA expression of melatonin receptors 1A/1B, calmodulin, and estrogen receptor-2 J. Zamecnik 1, L. Krskova 1, J. Hacek 1, I. Stetkarova 2, M. Krbec 2 1 2nd Medical Faculty and University Hospital Motol, Charles University in Prague, Prague, Czech Republic; 2 3rd Faculty of Medicine, and University Hospital Královské Vinohrady, Charles University in Prague, Prague, Czech Republic The pathogenesis of adolescent idiopathic scoliosis (AIS) as well as the local changes in deep paravertebral muscles in AIS has been poorly understood. The asymmetric expression of several molecules involved in the melatonin signaling pathway, including melatonin receptors MTNR1A and MTNR1B, estrogen receptor-2 (ESR2) and calmodulin (CALM1), has been previously suggested to be involved. However, the hypothesis has been based on single studies with data obtained by different methodical approaches. To evaluate the symmetry of mRNA expression of these molecules, 18 AIS patients and 10 non-scoliotic controls were enrolled into this study. Muscle biopsy samples from deep paraspinal muscles (from the convexity and the concavity of the scoliotic curve in AIS patients, or from the left and the right side in controls) were obtained during spinal surgery. In each sample, relative mRNA expressions of MTNR1A, MTNR1B, CALM1 and ESR2 were analyzed by real-time quantitative reverse transcription PCR (RQ-RT-PCR) and quantified using the ΔCt methods. But, mRNA expressions of none of the investigated molecules were significantly different when compared convex and concave side of the scoliotic curve in AIS patients, or when compared AIS patients with controls. In the case of MTNR1A and MTNR1B, the expression in paravertebral muscles was very weak, and in the majority of cases it could not be detected by repeated RQ-RT-PCR analysis at all. Thus, our data do not support the previously suggested role of the asymmetric expression of the investigated molecules involved in the melatonin signaling pathway in deep paravertebral muscles in the pathogenesis of AIS. http://dx.doi.org/10.1016/j.nmd.2016.06.231
P.212 Generation of recombinant human IgG monoclonal antibodies from immortalized sorted B cells D. Coenen 1, A. Saxena 2, C. Hoffmann 2, J. Hounjet 2, P. Molenaar 2, M. Losen 2, P. Martinez-Martinez 2, N. Nogales-Gadea 1 1 Institut d’ Investigació en Ciències de la Salut Germans Trias i Pujol, Badalona, Spain; 2 Maastricht University, Maastricht, Netherlands Finding new methods for generating human monoclonal antibodies is an active research field that is important for both basic and applied sciences, including the development of immunotherapeutics. However, the techniques to identify and produce such antibodies tend to be arduous and sometimes the heavy and light chain pair of the antibodies is dissociated. Here, we describe a relatively simple, straightforward protocol to produce human recombinant
P.209 Living well with a neuromuscular disease: A newly established course for patients and their families J. Ashworth 1, N. Doran 1, E. Burrows 1, A. Morgan 1, A. Majumdar 1, S. Thomas-Unsworth 2 1 SW Neuromuscular Network, Bristol, UK; 2 Bristol Children’s Hospital, University Hospital Bristol, UK The South West Neuromuscular ODN aims to develop and establish world class NHS services for children and adults living with rare neuromuscular conditions in the South West. Despite as a service supporting a wide range of conditions under the Neuromuscular Service Specification, we are very aware that many of the same emotional and psychological factors impact on physical symptoms and coping strategies for patients. This was a small study to establish whether a multidisciplinary course would be appropriate and useful to support patients with these challenges. We were also very keen to facilitate sharing and support amongst participants as a way to offer further peer and social support. The ‘Living Well’ course ran over 6 sessions (Autumn, 2015) and covered the following topics; challenges of living with a neuromuscular condition, emotional impact of living with a neuromuscular condition, improving sleep, managing thoughts and feelings/mindfulness, understanding pain, ways to manage fatigue and self-management and goal setting. The course was facilitated by a counselling psychologist working in the neuromuscular service with input from the specialist physiotherapist and neuromuscular advisor from the team. Each session ran for 2 hours at Southmead Hospital, North Bristol NHS Trust and included the first hour of education on the particular topic following by an hour of psycho-education/open discussion amongst group attendees. 7 participants took part in the course with a range of neuromuscular diagnoses and levels of mobility and functional ability. All attendees reported that they would be likely or extremely likely to recommend this course to friends or family who needed similar care. Expectations of attending the course were met in 6 out of 7 attendees. 4 out of the 6 sessions were rated as being useful or extremely useful with the other 2 being at least satisfactory for all. http://dx.doi.org/10.1016/j.nmd.2016.06.229
P.210 Repetitive nerve stimulation as electrophysiologic biomarker in muscle cramps J. Shin, D. Yoo, D. Kim, Y. Hong, J. Sung Seoul National University Hospital, Seoul, Republic of Korea Repetitive nerve stimulation (RNS) has been used to elicit muscle cramp, and the cramp threshold frequency has been proposed to well correlate with the occurrence of muscle cramps. Identification of after-discharges following RNS was also claimed to be useful for diagnosis of muscle cramps, but its role as an electrophysiologic biomarker of muscle cramps remains unclear. Frequency and severity of muscle cramp were measured by a patient-reported cramp diary. Supramaximal stimulation (initial pulse duration of 0.5 ms) was given to the posterior-tibial with the frequency of 5 Hz either up to 29 Hz or until abnormal after-discharges occur by 2 Hz increments. The abnormal after-discharge was defined as clearly distinct from the baseline motor activity with 1 or more second duration. What had much greater frequency and very high amplitudes at the onset was interpreted as a cramp potential. For investigation into frequency and duration effects of abnormal discharges, we applied to additional stimulation. After-discharge and cramp potential were strong agreements
S149
[54.8% all the same (κ = 0.739, p = 0.00), 37.1 and 33.9% (κ = 0.855,p = 0.00)]. A stimulation frequency causing after-discharges was variable. The presence of after-discharges and threshold frequencies had no relation with clinical cramp parameters, such as mean cramp times per day, cramp frequency, pain scale, and presence of the etiology. In addition, the power of after-discharges was significantly correlated with the pulse duration, but not with stimulation frequency. After-discharges/cramp potentials seem to be relatively common in patients with muscle cramps. Duration of the stimuli have an influence on the consequent alteration ratio of abnormal after-discharges in RNS. Therefore, if it is tolerable in patients with cramp symptoms, the longer duration of stimuli, and the better establishment of optimal stimuli duration may have a role as a diagnostic or therapeutic biomarker for muscle cramp. http://dx.doi.org/10.1016/j.nmd.2016.06.230
P.211 Paravertebral muscles in adolescent idiopathic scoliosis: mRNA expression of melatonin receptors 1A/1B, calmodulin, and estrogen receptor-2 J. Zamecnik 1, L. Krskova 1, J. Hacek 1, I. Stetkarova 2, M. Krbec 2 1 2nd Medical Faculty and University Hospital Motol, Charles University in Prague, Prague, Czech Republic; 2 3rd Faculty of Medicine, and University Hospital Královské Vinohrady, Charles University in Prague, Prague, Czech Republic The pathogenesis of adolescent idiopathic scoliosis (AIS) as well as the local changes in deep paravertebral muscles in AIS has been poorly understood. The asymmetric expression of several molecules involved in the melatonin signaling pathway, including melatonin receptors MTNR1A and MTNR1B, estrogen receptor-2 (ESR2) and calmodulin (CALM1), has been previously suggested to be involved. However, the hypothesis has been based on single studies with data obtained by different methodical approaches. To evaluate the symmetry of mRNA expression of these molecules, 18 AIS patients and 10 non-scoliotic controls were enrolled into this study. Muscle biopsy samples from deep paraspinal muscles (from the convexity and the concavity of the scoliotic curve in AIS patients, or from the left and the right side in controls) were obtained during spinal surgery. In each sample, relative mRNA expressions of MTNR1A, MTNR1B, CALM1 and ESR2 were analyzed by real-time quantitative reverse transcription PCR (RQ-RT-PCR) and quantified using the ΔCt methods. But, mRNA expressions of none of the investigated molecules were significantly different when compared convex and concave side of the scoliotic curve in AIS patients, or when compared AIS patients with controls. In the case of MTNR1A and MTNR1B, the expression in paravertebral muscles was very weak, and in the majority of cases it could not be detected by repeated RQ-RT-PCR analysis at all. Thus, our data do not support the previously suggested role of the asymmetric expression of the investigated molecules involved in the melatonin signaling pathway in deep paravertebral muscles in the pathogenesis of AIS. http://dx.doi.org/10.1016/j.nmd.2016.06.231
P.212 Generation of recombinant human IgG monoclonal antibodies from immortalized sorted B cells D. Coenen 1, A. Saxena 2, C. Hoffmann 2, J. Hounjet 2, P. Molenaar 2, M. Losen 2, P. Martinez-Martinez 2, N. Nogales-Gadea 1 1 Institut d’ Investigació en Ciències de la Salut Germans Trias i Pujol, Badalona, Spain; 2 Maastricht University, Maastricht, Netherlands Finding new methods for generating human monoclonal antibodies is an active research field that is important for both basic and applied sciences, including the development of immunotherapeutics. However, the techniques to identify and produce such antibodies tend to be arduous and sometimes the heavy and light chain pair of the antibodies is dissociated. Here, we describe a relatively simple, straightforward protocol to produce human recombinant