• Journal of Genetic Medicine
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• v.2 no.2
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• pp.53-57
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• 1998

Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.23 no.1
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• pp.33-42
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• 2012

Background and Objectives : Dysarthria refers to speech disorder that causes difficulties in speech communication due to paralysis, muscle weakening, and incoordination of speech muscle mechanism caused by damaged central or peripheral nerve system. Pitch, strength and speed are influenced by dysarthria during detonation due to difficulties in muscle control. As evaluation items, alternate motion rate and diadochokinesis have been commonly used, and articulation is also an important evaluation items. The purpose of this study is to find acoustic characteristics on sound production of dysarthria patients. Materials and Methods : Research subjects have been selected as 20 dysarthria patients and 20 subjects for control group, and voice sample was composed of bilabial, alveolar sound, and velar sound in diadochokinetic rate, while consonant articulation test was composed of bilabial plosive, alveolar plosive, velar plosive. Analysis items were composed of 1) speaking rate, energy, articulation time of diadochokinesis, 2) voice onset time (VOT), total duration (TD), vowel duration (VD), hold of plosives. Results and Conclusions : The number of diadochokinetic rate of dysarthria was smaller than control group. Both control group and dysarthria group was highly presented in the order of /t/>/p/>/k/. Minimum energy range per cycle during diadochokinetic rate of dysarthria group was smaller than control group, and presented statistical significance in /p/, /k/, /ptk/. Maximum energy range was larger than control group, and presented statistical significance in /t/, /ptk/. Articulation time, gap, total articulation time during diadochokinetic rate of dysarthria group was longer than control group and presented statistical significance. The articulation time was presented in both control group and dysarthria group in the order of /k/>/t/>/p/, while Gap was presented in the order of /p/>/t/>/k/ for control group and /p/>/k/>/t/ for dysarthria group. VOT, TD, VD regarding plosives of dysarthria group were longer than control group. Hold showed large deviation compared to control group that had appeared due to declined larynx and articulation organ motility.

• Journal of Physiology & Pathology in Korean Medicine
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• v.35 no.2
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• pp.71-80
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• 2021

Parkinson's disease is one of the typical neurodegenerative disease and it is caused by the destruction of substantia nigra in brain leading to lack of dopamine secretion, and it presents 4 major motor symptoms such as tremor, bradykinesia, stiffness, postural instability. Furthermore, it causes many non-motor symptoms such as anosmia, REM sleep conduct disorder, orthostatic hypotension, dementia and autonomic ataxia such as lack of adjusting blood pressure, hyperhydrosis, constipation. Dopaminergic therapy is the most commonly used strategy, but long term treatment of levodopa induce various adverse effects. Thus, many people are focusing on new therapies other than established therapies, and there are many tries and approaches with paradigm shift. Our medical team was able to get 4 cases of PD patients who are hospitalized in our hospital, treated by Whole Body Gi-Hyeol Therapy consisting of acupuncture therapy, herbal therapy, and mental therapy, and their conditions improved in perspective of Unified Parkinson's Disease Rating Scale(UPDRS), Heart Rate Variability(HRV), and Quality of life. Among all 4 cases, UPDRS score and quality of life score is gotton better, and among 2 cases SDNN, RMS-SD, TP, LF, HF scores are finely increased. And PDQ-39 score which shows quality of life is also improved. However, in spite of these improvements and positive results, there were no meaningful improvement in a hurt from a fall which is important to the aged, muscular atrophy which causes bone fracture and SMI(Skeletal Muscle Mass Index) which is indicator of osteoporosis. Thus, supplementary treatment about Whole Body Gi-Hyeol Therapy such as more active nutrition intervention, safe and effective kinesitherapy is needed, and from now on continuous case reports and systematic clinical research which has control group must be carried out.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.20 no.9
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• pp.127-132
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• 2019

This study examined the change in the attention of University students after being given Transcranial Direct Current Stimulation (tDCS). The participants were divided randomly into two group (tDCS vs. Control). tDCS was applied to 37 university students ($23.08{\pm}3.33years$). The tDCS group was applied 2 mA, for 13 minutes twice over a 26 minute period ($n_1=19$). The control ($n_2=18$) was not applied after padding and was applied twice for 13 minutes over a 26 minute period. This study was conducted from September 3 to 28, 2018 and three times a week for a total of four weeks. The electroencephalogram was confirmed to affect attention. tDCS showed significant improvement in the results in the sensory motor rhythm wave (p<0.01, 95% CI: -1.955, -0.459), middle beta wave (p<0.05; 95% CI: 0.027, 0.943), and power ratio (p<0.01, 95% CI: -1.764, -0.315). The results showed that tDCS application increased the attention ability significantly. These results can be applied to attention deficit disorder (ADHD) patients and college students.

• Journal of the Korean Applied Science and Technology
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• v.40 no.2
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• pp.290-300
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• 2023

This study was understood the risk mechanism of falls in the elderly and reviewed previous research data to see if the principle of Pilates rehabilitation exercise could have a positive effect on balance ability and postural stabilization in the elderly, and the purpose of this study is to present literature-based data on the fall prevention effect of rehabilitation Pilates exercise. First, the rehabilitation Pilates exercise makes it available for strengthening the center of the body to stabilize the spine and pelvis and stimulates the nerve root, thereby having an effect on the balance and the joint stabilization. Second, a proprioceptive sensory impairment and a musculoskeletal degenerative disease due to aging increase the loss of balance ability and the instability in posture maintenance, thereby coming to raise the risk of a fall damage caused by the difficulty in performing motor functions and by the gait disturbance. Third, the rehabilitation Pilates exercise leads to improving the core muscle strength in older adults, resulting in being capable of expecting the betterment in the balance and the reaction time motor function. And there is a positive impact on the improvement in body imbalance and on the stability in movement involved in the fall prevention, resulting in being able to suggest the possibility of likely contributing to a reduction in a fall risk rate. In conclusion, the rehabilitation Pilates as the elderly exercise program showed effects on the improvement in the body's muscular strength, on the upgrade in a sense of balance, and on the stabilization of core. Thus, it was considered to diminish the risk factors for a fall damage caused by musculoskeletal degeneration and to be capable of preventing a serious disorder of activity due to a chronic senile disease.

• Biomolecules & Therapeutics
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• v.32 no.1
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• pp.154-161
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• 2024

Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder that causes progressive paralysis. L-Citrulline is a nonessential neutral amino acid produced by L-arginine via nitric oxide synthase (NOS). According to previous studies, the pathogenesis of ALS entails glutamate toxicity, oxidative stress, protein misfolding, and neurofilament disruption. In addition, L-citrulline prevents neuronal cell death in brain ischemia; therefore, we investigated the change in the transport of L-citrulline under various pathological conditions in a cell line model of ALS. We examined the uptake of [¹⁴C]L-citrulline in wild-type (hSOD1wt/WT) and mutant NSC-34/ SOD1^G93A (MT) cell lines. The cell viability was determined via MTT assay. A transport study was performed to determine the uptake of [¹⁴C]L-citrulline. Quantitative real-time polymerase chain reaction (qRT-PCR) analysis was performed to determine the expression levels of rat large neutral amino acid transported 1 (rLAT1) in ALS cell lines. Nitric oxide (NO) assay was performed using Griess reagent. L-Citrulline had a restorative effect on glutamate induced cell death, and increased [¹⁴C]L-citrulline uptake and mRNA levels of the large neutral amino acid transporter (LAT1) in the glutamate-treated ALS disease model (MT). NO levels increased significantly when MT cells were pretreated with glutamate for 24 h and restored by co-treatment with L-citrulline. Co-treatment of MT cells with L-arginine, an NO donor, increased NO levels. NSC-34 cells exposed to high glucose conditions showed a significant increase in [¹⁴C]L-citrulline uptake and LAT1 mRNA expression levels, which were restored to normal levels upon co-treatment with unlabeled L-citrulline. In contrast, exposure of the MT cell line to tumor necrosis factor alpha, lipopolysaccharides, and hypertonic condition decreased the uptake significantly which was restored to the normal level by co-treating with unlabeled L-citrulline. L-Citrulline can restore NO levels and cellular uptake in ALS-affected cells with glutamate cytotoxicity, pro-inflammatory cytokines, or other pathological states, suggesting that L-citrulline supplementation in ALS may play a key role in providing neuroprotection.

• The Journal of Korean society of community based occupational therapy
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• v.1 no.2
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• pp.71-79
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• 2011

Objective : This study aimed to systematically reviewed to identify, evaluate, synthesize the research literature and suggested to the research direction on the effectiveness of occupational therapy using a sensory integration approach. Methods : We analyzed 10 studies that identified the effectiveness of occupational therapy using a sensory integration approach for children and adolescents offering in MEDLINE/PubMed and http://ajot.aotapress.net between 1993 and 2011. Results : The subjects were the sensory modulation disorder and autism spectrum. The different intervention strategies were similar to a previous studies. Intervention dosage was over 20 sessions, 2~3days per week more than 10weeks. Occupational therapy using a sensory integration approach may result in positive outcome in motor performance, behavioral outcomes, academic and psychoeducational outcomes and tried to currently identify the effect of intervention outcomes in sensory processing and occupational performance using the GAS. Conclusion : Clinicians have a minimal idea planing a research design and a evidence running a study.

• Journal of Pharmacopuncture
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• v.17 no.2
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• pp.27-33
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• 2014

Objectives: The main objective of this study was to evaluate the anti-depressant effects of pharmacopuncture using sumsu (Bufonis venenum). Methods: Animals were divided into three groups (control, sham, and experimental), with eight mice per group. The sham and the experimental groups were exposed to 2 hours of immobilization stress daily for 14 days. They were also injected with normal saline (sham) or subjected to pharmacopuncture with sumsu at the acupoints HT7, SP6, and GV20 (experimental). The depression or anxiety-like behaviors of the mice in each group were evaluated 1 day after treatment. Results: There was no difference in locomotor activity between the groups during the open-field test; i.e., all groups had normal motor function. However, the open-field and the forced-swimming tests revealed that depression and anxiety-like behaviors were decreased significantly in the group treated with sumsu pharmacopuncture. Conclusion: Sumsu pharmacopuncture attenuated depressive or anxiety-like behavior in mice stressed with chronic immobilization. These results suggest that sumsu pharmacopuncture has therapeutic potential for treating neuropsychiatric disorders such as anxiety or depression disorder.

• Clinical and Experimental Pediatrics
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• v.60 no.12
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• pp.403-407
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• 2017

Purpose: Quadriplegic children with cerebral palsy are more susceptible to osteoporosis because of various risk factors that interfere with bone metabolism. Pamidronate is effective for pediatric osteoporosis, but there are no guidelines for optimal dosage or duration of treatment in quadriplegic children with osteoporosis. We aimed to evaluate the efficacy of low-dose pamidronate treatment in these patients. Methods: Ten quadriplegic patients on antiepileptic drugs (6 male, 4 female patients; mean age, $10.9{\pm}5.76years$), with osteoporosis and gross motor function classification system level V, were treated with pamidronate (0.5-1.0 mg/kg/day, 2 consecutive days) every 3-4 months in a single institution. The patients received oral supplements of calcium and vitamin D before and during treatment. The lumbar spine bone mineral density (BMD) z score and biochemical markers of bone metabolism were measured regularly during treatment. Results: The main underlying disorder was perinatal hypoxic brain damage (40%, 4 of 10). The mean cumulative dose of pamidronate was $4.49{\pm}2.22mg/kg/yr$, and the mean treatment period was $10.8{\pm}3.32months$. The BMD z score of the lumbar spine showed a significant increase from $-4.22{\pm}1.24$ before treatment to $-2.61{\pm}1.69$ during treatment (P=0.008). Alkaline phosphatase decreased during treatment (P=0.037). Significant adverse drug reactions and new fractures were not reported. Conclusion: Low-dose pamidronate treatment for quadriplegic children with cerebral palsy increased lumbar BMD and reduced the incidence of fracture.

• The Journal of Internal Korean Medicine
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• v.21 no.3
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• pp.369-376
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• 2000

Purpose : Cerebrovascular disease is the most frequent cause of death in Korea and it remains severe disabilities disturbing normal life, According to the previous studies, mortality of the stroke in the first one week is up to the 20% and 95% of stroke patients in the acute stage are accompanied by more than one complications. These complications affect not only the acute stage mortality but also the late stage rehabilitations. In Korea the oriental medicine is preformed in the treatment of stroke. Therefore it is important to recognize thoroughly the complications in the acute stage of stroke and to prevent them. But studies about complications of acute stage stroke is rarely presented in the fields of oriental medicine. So this study is prepared for investigating the characteristics and frequency of complications in the acute stage of stroke. And we are to assess the importance of theses acute complications by systemic reviewing the previous studies. Methods : Fifty one patients are included who had been admitted to ICU(intensive care unit) of Chenju Hospital of Wonkwang Oriental Medicine. Twenty nine patients are diagnosed as ischemic stroke and twenty one patients are diagnosed hemorrhagic stroke. Medical and neurological complications were investigated retrospectively based on medical notes excluding primary symptoms of stroke Le. motor weakness, sensory disturbance and speech disorder. And risk factors of stroke such as D.M. or hypertension are excluded. Results : Medical complications are more frequent than neurological ones. Most frequent medical complication is dysuria(61%) and constipation(45%), fever(30%) and aspiration pneumonia(22%) are followed in order of frequency. In Neurological complication dysphagia(56%), the exacerbation of infarction due to increased intracranial pressure(24%), irritability or insomnia(21%) is most frequently complicated in order of frequency. Conclusions : These complications are mostly caused by bed rest state in acute stage stroke. It is supposed that more aggressive management can prevent theses ones. And it is possible to improve the medical and neurological conditions by sticking theses study results.