• Journal of rehabilitation welfare engineering & assistive technology
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• v.10 no.2
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• pp.107-112
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• 2016

The purpose of this study was to determine the effect of aquatic ramp walking exercise on the activity of the quadriceps, gait and activity of daily living in child with Spinal Muscular Atrophy (SMA) type II. A 5 years-old girl with SMA type II participated in this study. This study used single-subject reverse(A-B-A) design study. There are 12 sessions(4weeks 3 times a week) each during the baseline phase(A), the intervention phase(B), the follow up phase(A). During the baseline phase and the follow up phase performed general aquatic therapy, the intervention phase additional performed walking activity on ramp in pool (60m). Surface electromyogram, Timed Up and Go (TUG) test, ACTIVLIM were used as outcome. During the intervention phase, there were decrease on the activity of the quadriceps. In modified TUG test, gait time reduced during the intervention phase. The ACTIVLIM logit score increased during intervention phase by comparison with the baseline phase. These findings suggest that an aquatic ramp walking exercise activities have the therapeutic possibility on the quadriceps activity and gait ability for child with SMA type II.

• Physical Therapy Korea
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• v.22 no.2
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• pp.70-80
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• 2015

The spinal cord is highly complex, consisting of a specialized neural network that comprised both neuronal and non-neuronal cells. Any kind of injury and/or insult to the spinal cord leads to a series of damaging events resulting in motor and/or sensory deficits below the level of injury. As a result, muscle paralysis (or paresis) leading to muscle atrophy or shrinking of the muscle along with changes in muscle fiber type, and contractile properties have been observed. Traditionally, histology had been used as a gold standard to characterize spinal cord injury (SCI)-induced adaptation in spinal cord and skeletal muscle. However, histology measurements is invasive and cannot be used for longitudinal analysis. Therefore, the use of conventional magnetic resonance imaging (MRI) is promoted to be used as an alternative non-invasive method, which allows the repeated measurements over time and secures the safety against radiation by using radiofrequency pulse. Currently, many of pathological changes and adaptations occurring after SCI can be measured by MRI methods, specifically 3-dimensional MRI with the advanced diffusion tensor imaging technique. Both techniques have shown to be sensitive in measuring morphological and structural changes in skeletal muscle and the spinal cord.

• The Journal of Korean Physical Therapy
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• v.22 no.3
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• pp.9-15
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• 2010

Purpose: To evaluate, in patients with degenerative disc disease (DDD), the efficacy of using spinal stabilizing exercises for the reversal? of atrophy of the multifidus and psoas major, reductions in pain and disability, and for increases in paraspinal muscle strength. Methods: Nineteen patients diagnosed with DDD participated for 10 weeks in a spinal stabilization exercise program. Pain and disability were measured before and after exercise using, respectively, a visual analogue scale (VAS) and the Oswestry Disability Index (ODI). Paraspinal muscular strength in four directions was evaluated using CENTAUR. Both before and after exercise we used computed tomography (CT) too measure cross-sectional areas (CSAs) of both the left and right multifidus and the psoas major at the upper & lower endplate of L4. Results: After 10 weeks of a spinal stabilization exercise program, pain was significantly decreased from $5.7{\pm}0.9$ to $2.5{\pm}0.9$ (p<0.01); the ODI score decreased from $16.7{\pm}4.9$ to $7.3{\pm}3.1$. Paraspinal muscle strength was significantly increased (p<0.01) and the CSAs of the left and right multifidus and psoas major muscles were significantly increased (p<0.01). Conclusion: Spinal stabilization exercise is effective in reversing atrophy in DDD patients, in reducing pain and disability, and in increasing paraspinal muscle strength. It is an effective treatment foro aiding rehabilitation in these cases.

• Journal of Korean Medicine Rehabilitation
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• v.19 no.4
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• pp.151-163
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• 2009

Objectives : In the assessment of the lumbar spine by magnetic resonance imaging (hereinafter, "MRI"), changes in the paraspinal muscles are overlooked. The purpose of our study is to examine the correlation between the multifidus muscle atrophy on MRI findings and the clinical findings in low back pain (hereinafter, "LBP") patients. Methods : The retrospective study on 38 LBP patients, presenting either with or without associated leg pains, was undertaken. The MRI findings on the patients were visually analysed to find out a lumbar multifidus muscle atrophy, disc herniation, disc degeneration, spinal stenosis and nerve root compressions. The clinical history in each case was obtained from their case notes and pain drawing charts. Results : The lumbar multifidus muscle atrophy has occurred from more than 80% of the patients with LBP. Most of lumbar multifidus muscle atrophies have increased from lower level of lumbar spine. It was bilateral in the majority of the cases. In addition, multifidus muscle atrophy was correlated to the patient's age, disc degenerations and spinal stenosis. On the contrary, gender, the duration of LBP, referred leg pain, disc herniation and nerve root compressions had no relevance to multifidus muscle atrophies. Therefore, when assessing the MRIs of the lumbar spine, we should have more attetion on multifidus muscle, because it has lot's of information about spinal neuropathy problems. Conclusions : Therefore, the examination of multifidus muscle atrophies should be considered when assessing the MRIs of the lumbar spine. In addition, it helps to evaluate and plan the treatment modalities of LBP. Moreover, it prevents from LBP by discovering the importance between the multifidus muscle and the spine stabilization exercise.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.189-196
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• 2018

Purpose: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants. Methods: We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children's Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants' families. Results: Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. Conclusion: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.

• Annals of Clinical Neurophysiology
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• v.8 no.1
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• pp.36-39
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• 2006

Background: Floppy infant syndrome has a number of different etiologies. Methods: One hundred twenty-three consecutive patients of floppy infant syndrome were included in this study. We reviewed all the electrophysiologic tests of these patients and the medical record of patients showing abnormalities in the electrophysiologic studies. Results: Of the 123 patients, twenty-six (21.1%) showed definite abnormalities in electrophysiologic tests; 8 myopathies, 14 neuropathies and 4 unclassified. The neuropathy was further classified as 5 neuronopathies and 9 sensorimotor polyneuropathies. With muscle or sural nerve biopsy and genetic test, a final diagnosis was made of Duchenne muscular dystrophy in 4, Becker muscular dystrophy in 1, spinal muscular atrophy in 2, and metachromatic leukodystrophy in 1. Conclusions: About 21% of patients presented with floppy infant syndrome showed abnormalities in the neuromuscular system. The electrophysiologic test is valuable to guide further investigations in diagnosing the cause of floppy infant syndrome.

• Journal of Korean Academy of Nursing
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• v.41 no.4
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• pp.520-527
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• 2011

Purpose: The purpose of this study was to examine effects of nitric oxide synthase (NOS) inhibitor on muscle weight and myofibrillar protein content of affected and unaffected hindlimb muscles in rats with neuropathic pain induced by unilateral peripheral nerve injury. Methods: Neuropathic pain was induced by ligation and cutting of the left L5 spinal nerve. Adult male Sprague-Dawley rats were randomly assigned to one of two groups: The NOSI group (n=19) had NOS inhibitor (L-NAME) injections daily for 14 days, and the Vehicle group (n=20) had vehicle injections daily for 14 days. Withdrawal threshold, body weight, food intake and activity were measured every day. At 15 days all rats were anesthetized and soleus, plantaris and gastrocnemius muscles were dissected from hindlimbs. Muscle weight and myofibrillar protein content of the dissected muscles were determined. Results: The NOSI group showed significant increases as compared to the Vehicle group for body weight at 15 days, muscle weight and myofibrillar protein content of the unaffected soleus and gastrocnemius. The NOSI group demonstrated a higher pain threshold than the vehicle group. Conclusion: NOSI for 14 days attenuates unaffected soleus and gastrocnemius muscle atrophy in neuropathic pain model.

• Herbal Formula Science
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• v.25 no.4
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• pp.499-508
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• 2017

Objectives : Skeletal muscle atrophy occurs in response to a variety of conditions. The unloading to muscle occurs clinically in limb immobilization, bed rest, spinal cord injury and peripheral nerve damage, resulting in significant loss of muscle mass and force production. Muscle disuse is accompanied by an increase in apoptotic signaling, which mediates some of the responses to unloading in the muscle. In this study we tested the hypothesis that Daeyeoung-jeon extract would improve muscle recovery after reloading following disuse. Method : Twenty young male Sprague-Dawley rats were used for the studies. The hindlimb immobilization was performed with casting tape to keep the left ankle joint in a fully extended position. No intervention was performed on the right leg and used as intact region. The Rats in Daeyeoung-jeon treated group (DYJ) were orally administrated Daeyeoung-jeon water extract, and rats of Control group were given with saline only. After 2 weeks of immobilization, all animals were sacrificed, and the whole gastrocnemius muscles were dissected from both legs. The morphology of right and left gastrocnemius muscles in both DYJ and Control groups were assessed by hematoxylin and eosin staining. Moreover, to investigate the immobilization-induced muscular apoptosis, the immunohistochemical analysis of Bax and Bcl-2 was carried out. Results : Daeyeoung-jeon represented the significant protective effects against the reductions of the left gastrocnemius muscles weight and average cross section area to compared with Control group. The treatment with Daeyeoung-jeon extract significantly reduced the immunoreactivity of BAX and increased the immunoreactivity of Bcl-2 in gastrocnemius muscle compared with Control group. Conclusion : Daeyeoung-jeon has protective effects against immobilization-induced muscle atrophy by regulating the activities of apoptosis-associated BAX/Bcl-2 proteins in gastrocnemius muscle.

• Journal of Korean Biological Nursing Science
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• v.10 no.1
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• pp.88-95
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• 2008

Purpose: The purpose of this study was to examine the effect of neuropathic pain by peripheral nerve injury on mass and Type I and II fiber cross-sectional areas on hindlimb muscles of the neuropathic pain model rat. Method: Adult male Sprague-Dawley rats (body weight 200-220 g) were assigned to one of two groups: a neuropathic pain group (n=7) that had a ligation of the left L5 spinal nerve, a control group (n=5), a naive rat without any procedures. Withdrawal threshold, activity, body weight and food intake were measured daily. At 8 days after neuropathic pain, all rats were anesthetized and the soleus and plantaris muscles were dissected from the both hindlimbs. Body weight, food intake, muscle weight and Type I and II fiber cross-sectional area of the dissected muscles were determined. Result: The neuropathic pain group showed a significant decreases (p<.05) as compared with the control rats, in diet intake, body weight, muscle weight and Type II fiber cross-sectional area of the left (affected side) soleus and plantaris muscles, and the right (unaffected side) muscle weight of plantaris and Type II fiber cross-sectional area of the soleus muscle. Conclusion: The hindlimb muscle atrophy occurs in both affected and unaffected side due to neuropathic pain by the peripheral nerve injury. The hindlimb muscle atrophy of the affected side is more pronounced than that of the unaffected side.

• Molecules and Cells
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• v.46 no.1
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• pp.10-20
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• 2023

Antisense oligonucleotide (ASO) technology has become an attractive therapeutic modality for various diseases, including Mendelian disorders. ASOs can modulate the expression of a target gene by promoting mRNA degradation or changing pre-mRNA splicing, nonsense-mediated mRNA decay, or translation. Advances in medicinal chemistry and a deeper understanding of post-transcriptional mechanisms have led to the approval of several ASO drugs for diseases that had long lacked therapeutic options. For instance, an ASO drug called nusinersen became the first approved drug for spinal muscular atrophy, improving survival and the overall disease course. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF). Although Trikafta and other CFTR-modulation therapies benefit most CF patients, there is a significant unmet therapeutic need for a subset of CF patients. In this review, we introduce ASO therapies and their mechanisms of action, describe the opportunities and challenges for ASO therapeutics for CF, and discuss the current state and prospects of ASO therapies for CF.