• The Journal of Korean Physical Therapy
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• v.24 no.6
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• pp.383-387
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• 2012

Purpose: Rising from a chair is important for activities of daily living. Several factors have influence on sit-to-stand movement. We studied the effect of inclination of seat surface of on the movement of rising from a chair with electromyographic (EMG). Methods: Twelve subjects performed the sit-to-stand movement on anterior-inclined, standard, and posterior inclined chair. We measured onset time of tibialis anterior and rectus femoris with EMG on each inclination chair. Results: The onset time at the anterior-inclined chair is significantly faster than it at the standard chair (p<0.05). And the onset time at the posterior-inclined chair is significantly slower than it at the standard chair (p<0.05). Conclusion: Rising from anterior inclined chair appeared to be more effective than rising from the standard and posterior inclined chair. Therefore, this finding suggests that the selection of set surface inclination must be considered for activities of daily living during rehabilitation.

• Neonatal Medicine
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• v.18 no.2
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• pp.370-373
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• 2011

Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2. Neonatal-onset CTLN2 is an autosomal recessive disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. A 16-days old infant with hyperammonemia was referred for evaluation of increased plasma citrulline diagnosed using tandem mass spectrometry. Blood amino acid analysis showed significant elevation of citrulline. Mild elevation in serum galactose levels had been found. DNA analysis of the SLC25A13 gene in this patient showed two novel compound heterozygous mutations, c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]). We suggest that infants with a high serum citrulline level on a tandem mass screening test are candidates for gene analysis and blood amino acid analysis for neonatal-onset CTLN2.

• Journal of the Korean Society of Physical Medicine
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• v.10 no.2
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• pp.55-61
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• 2015

PURPOSE: The purpose of this study was to investigate recruiting order and onset time around shoulder muscle during the push-up according to the body tilting angle. METHODS: Twenty healthy young adult subjects were recruited for this study. They had no neurological and musculoskeletal disease. We used the sEMG for recording onset time of shoulder muscles. Shoulder Muscles were anterior deltoid(AD), posterior deltoid(PD), pectoralis major(PM), upper trapezius(UT). Body tilting angle were measured at 0 degree, 30 degree and 60 degree by using tilting table. Muscles contraction onset time were set by the push-up performed 3 times respectively. Mean of 3 measurements were used. And initiate onset time was decided by the Mean ${\pm}2$ SD in the threshold, more than 25ms. RESULTS: There were significant difference at 0 degree, 30 degree and 60 degree(p<.05). Muscles onset time were same order at 0 degree, 30 degree. UT occurred first of all contraction at 0 degree and 30 degree. And then contracted AD, PD, PM. But, at 60 degree, AD was the first contraction, and PM, UT, PD. CONCLUSION: Muscle recruitment order and onset time according to the body tilting was shown the difference when you do push-up. Therefore, this result, shoulder muscle recruitment pattern of according to the body tilting is different and it has to make effective shoulder exercise program.

• Archives of Orthopedic and Sports Physical Therapy
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• v.14 no.2
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• pp.55-64
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• 2018

Purpose : The purpose of this study was to investigate the effect of the sprinter and skater combined patterns on muscle contraction onset time and muscle activation of body stabilizing muscles. Method : Our study included young and healthy men in their 20s. The participants used the sprinter and skater combined patterns of the proprioceptive neuromuscular facilitation (PNF) methods to measure muscle activation and muscle contraction onset time of the trunk muscles. To measure muscle contraction onset time and muscle activation, electrodes were attached to the rectus abdominis (RA), external oblique (EO), internal oblique (IO), and erector spinalis (ES) regions. Significant differences were identified using a paired t-test and a one-way analysis of variance (ANOVA) analysis. Result : In the sprinter combined pattern, the muscle with the fastest onset time of contraction was the RES, and that with the slowest was the RRA (p<.001). In the skater combined pattern, the muscle with the fastest onset time of contraction was the LES, and that with the slowest was the LRA (p<.001). In the sprinter combined pattern, the REO and LIO presented medium muscle contraction onset times (p<.001). In the skater combined pattern, the LEO and RIO presented medium muscle contraction onset times (p<.001). Conclusions: Based on these results, these patterns could be used as exercise methods for the elderly with delayed proactive response speeds of the body stabilization methods due to imbalances in body stabilizing muscles or limbs movement.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.197-204
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• 2018

Purpose: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. Methods: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset (<6 months of age) and late-onset (${\geq}6$ months of age) seizures. Results: Seizure was the first symptom in 30 (90.9%) and 13 (65%) patients of the early-onset and late-onset groups, respectively (P=0.046). Delayed development was observed in 3 (9.1%) and 7 (35%) patients of the early-onset and late-onset groups, respectively (P=0.023). Lactate levels were normal in 17 patients (55%) of the early-onset group and 5 (25%) of the late-onset group (P=0.036), while initial brain magnetic resonance imaging (MRI) findings were normal in 23 (67.6%) and 8 (40%) patients of the early-onset and late-onset groups, respectively. Final MRI findings were abnormal in 32 patients (94.1%) of the early-onset group and 18 (90%) of the late-onset group (P=0.036). Although ketogenic diets reduced seizure frequency in both groups, the difference was not significant. Conclusion: There is no significant difference in epilepsy-related variables when patients are divided based on a cut-off age of 6 months. However, differences in the first symptom at onset and MRI findings were observed. Although lactate levels were not of significant diagnostic value in the early-onset group, they may be in the late-onset group.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.16 no.2
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• pp.173-182
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• 2005

This review is a clinical and research update of recent literature related to childhood onset schizophrenia (with an onset of psychosis by age 12). Childhood onset schizophrenia(COS) is a rare disorder, but that may represent a more homogeneous patient population in which to search for risk or etiologic factors of schizophrenia. These overview data show that COS shares the same clinical and neurobiological features as later onset forms of the disorder. Compared with later onset schizophrenia, however, this subgroup of patients appear to have more severe premorbid neurodevelopmental abnormalities, more cytogenic abnormalies, poor outcome, and potentially greater family histories of schizophrenia and associated spectrum disorders. Future studies of this subgroup may provide important clues as to the genetic basis for schizophrenia and how gene products influence certain feature of the disease, such as age of onset and mode of inheritance.

• Clinical and Experimental Pediatrics
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• v.62 no.2
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• pp.55-61
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• 2019

Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1. Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ${\geq}1,000$). Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup. Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.

• PNF and Movement
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• v.12 no.1
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• pp.19-25
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• 2014

Purpose: To investigate the effect of action observation training on the muscle onset time and symmetrical use of rectus femoris(RF) and gastrocnemius medialis(GCM) during sit-to-stand (STS). Methods: Sixteen patients with stroke entered a single-blind trial and were randomly assigned to the experimental(Action) or control(Landscape) groups. Those in the Action observation group watched video clips showing specific movement and strategies to STS, wheas those in the control group watched video clips of static pictures showing differnet landscapes. All patients was measured the EMG data in the STS on the affected side and unaffected side. The EMG data were collected from RF and GCM while performing the STS task. The EMG onset time and onset time ratio for the RF and GCM were calculated by dividing the EMG onset time of RF and GCM action on the affected side by these on the unaffected side. Results: Onset time of affected side RF, GCM was significantly faster action observation training group than control group(p<.05). But interventions before and after the symmetry did not show a significant increase. Conclusion: There findings suggest that action observation training has a positive effect on the muscle onset time shortened during STS tasks.

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.95-99
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• 2003

Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe disease is galactocerebroside beta-galactosidase. Patients with Krabbe disease can be subdivided into the early-onset type and late-onset type, according to the onset of clinical manifestations. Most patients with early-onset type die before their second birthday. We describe a girl with Krabbe disease associated with uncontrolled seizures, which was confirmed with biochemical study and MRI. The clinical findings of this patient included hyperirritability, scissoring of the legs, flexion of arm, and clenching of the fists, and generalized tonic seizures. EEG showed hypsarrhythmia, and MRI demonstrated degenerative white matter changes in bilateral periventricular white matter, posterior rim of internal capsule, basal ganglia and brain stem on T2W1 and FLAIR image. The diagnosis was based on clinical features of progressive neurologic deterioration in conjunction with low galactocerebroside beta-galactosidase activity.

• Physical Therapy Rehabilitation Science
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• v.4 no.1
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• pp.22-27
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• 2015

Objective: Jump training helps increase the muscle power by improving the muscle strength and reaction time of the muscle in operation. The purpose of this study was to identify the effects of strengthening, stretching exercise and meditation on electromyographic (EMG) onset timing of rectus femoris and gastrocnemius muscle during vertical jump performance. Design: Cross-sectional study. Methods: Ten healthy adults (5 male and 5 female) who were familiar with the vertical jumping task and had no lower extremity injuries or any bone or joint disorders, were recruited for this study. Muscle onset timing was measured by surface EMG. After EMG onset timing were measured during performing three baseline vertical jump trials, strengthening and stretching exercises of the rectus femoris and gastrocnemius, and meditation were performed in random order. EMG onset timing was measured during vertical jump after intervention, respectively. EMG value was averaged for the three trials and analyzed using one-way repeated ANOVA. Results: During vertical jump, EMG onset timing of gastrocnemius was a significant difference after intervention (p<0.05), and then there was significantly faster in strengthening exercise than meditation (p<0.05). Conclusions: These results indicate the potential positive effect of performing strengthening exercise of the gastrocnemius before a jumping event. Future research is required to identify the effects of intervention over a long period.