• 대한생식의학회:학술대회논문집
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• 2003.12a
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• pp.82-83
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• 2003

• Journal of Physiology & Pathology in Korean Medicine
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• v.21 no.3
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• pp.781-784
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• 2007

Tremor is a rhythmic and involuntary muscular contraction charaterized by oscillations of body parts. tremor often accompanies neurological disorders associated with aging. Although the disorder is not life-threatening, it can be responsible for functional disability and interpersonal relationship problems. We have recently examined a number of tremor-patients. One of them was improved significantly through the herbal medicine (Ssanghaptang-gamibang) and accupuncture, so we report it for the better treatment.

• 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.

• Clinical and Experimental Reproductive Medicine
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• v.32 no.4
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• pp.293-300
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• 2005

연구목적: 단일 유전자 이상에 대한 착상전 유전진단을 성공적으로 시행하기 위해서는 효과적이고 신뢰도가 높은 PCR 방법의 확립이 중요하다. 본 연구에서는 alkaline lysis와 duplex nested PCR 방법을 단일 림프구와 할구의 유전자 분석에 적용하여 그 효용성을 확인하고자 하였다. 재료 및 방법: 단일 유전자의 이상이 확인된 Duchenne muscular dystrophy (DMD), ornithine transcarbamylase (OTC) 결핍증과 epidermolysis bullosa (EB) 가계의 대상자들에서 채취한 단일 림프구와 공여 받은 배아의 할구를 이용하여 각각 PCR, restriction fragment length polymorphism (RFLP)와 direct DNA sequencing 분석을 시행하였다. 이러한 분석에서 유전자 증폭률 (amplification rate)과 두개의 allele 중에서 하나의 allele이 증폭되지 않는 allele drop-out (ADO) 빈도에 대해 살펴보았다. 결 과: 단일 림프구와 할구를 이용한 PCR 방법의 유전자 증폭률은 DMD에서 91.1%와 81.8%, OTC 결핍증에서 96.0%와 78.1%, EB에서 91.3%와 90.0%를 각각 나타냈으며, ADO 빈도는 OTC 결핍증에서 13.3%, EB에서 16.8%로 관찰되었다. 결 론: 본 연구에서 적용한 alkaline lysis와 duplex nested PCR 방법은 단일 유전자에 대한 착상전 유전진단에 성공적으로 적용할 수 있는 방법으로 생각되며, ADO 빈도를 최소화할 수 있는 효율적인 방법의 개발에 대한 지속적인 연구가 필요하다.

• Journal of the Ergonomics Society of Korea
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• v.33 no.5
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• pp.313-321
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• 2014

Objective: The purpose of this study is to develop products that prevent muscular skeletal disease of farm workers, which would bring improvement for an efficient harvesting work. Background: A pretest for product development and a survey research was carried out to inspect the problems of current harvesting work procedure. The product was developed and assessed based on ideas to supplement and improve these weak points. Method: A total of twenty men were recruited to evaluate the effects of harvest baskets on the upper-limb muscle activity, working hours. For the usability evaluation, electromyogram and working hours of previous working method (disuse of harvest basket, one-hand carriage of the basket) and new working method with the usage of newly-developed harvest basket was examined. The whole anterior deltoid, biceps brachii and erector spinae on both sides, which make a total of six muscle parts, were used for this experiment. The results were analyzed using ANOVA with muscle activity (%MVC) of each three forms of work and required work time from SPSS 18.0. Results: According to the test result, all muscles did not demonstrate any statistically significant difference, with an exception of the backbone erector (right). The muscle activity of backbone erector (right) in the work method that uses the harvest basket developed in this study was detected to be approximately 23% less than that of the previous working method. Moreover, compared to the previous working method, the required work time decreased to a statistically significant degree. Conclusion: As such, the decrease in the amount of waist muscle usage at harvesting work would enable the prevention of muscular skeletal disease and stabilization of lumbar spine. Application: Which in turn would increase the effectiveness and reduce personnel expense (labor costs) while enhancing productivity with a decreased working hours.

• Journal of the Ergonomics Society of Korea
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• v.26 no.2
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• pp.35-44
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• 2007

Work-related musculoskeletal disorders (WMSDs) are a major problem in industries in which manual materials handling is performed by workers. To prevent these WMSDs, it is necessary to understand the muscular strength capability and use this knowledge to design job and selection and assignment of workers. Even though two-hands lifting activity of manual materials handling tasks are prevalent at the industrial site, many manual materials handling tasks which require the worker to perform one-hand lifting are also very common at the industrial site and forestry and farming. However, a few researches have been done for one-hand lifting activity of manual materials handling tasks. The objective of this study is to compare one-hand and two-hands lifting strength in terms of static and dynamic strength of the lifting activity for the ranging from the height of knuckle to elbow. It is shown in this study that the isometric lifting strength of one-hand is ranging from 54.7 to 63.3% of the one of two-hands. However, it is found that there is no significant difference between a person's isometric lifting strength for left-hand and right-hand. It is also shown that there is no significant difference between the peak force under the dynamic sub-maximal loading with one-hand and two-hands lifting activity. Similar results were obtained for the peak acceleration and peak velocity under the dynamic sub-maximal loading with one-hand and two-hands lifting activity. Isometric lifting strength at the height of knuckle was ranging from 2 to 3 times of the dynamic peak force during sub-maximal lifting. It is concluded that the dynamic peak forces under the sub-maximal loading are not highly correlated with the isometric lifting strength in similar postures.

• Journal of Oral Medicine and Pain
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• v.37 no.3
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• pp.183-188
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• 2012

Previous studies of the relationship of TMJ signs and symptoms in elderly people have provided inconsistent findings. The objective of this study was to retrospectively analyze the prevalence of signs and symptoms of temporomandibular disorders(TMD). Additionally, young subjects were examined as a control group. Forty old patients (28 female, 12 male, mean age: $65.2{\pm}2.5$ years) and forty young patients (30 female, 10 male, mean age: $23.3{\pm}2.6$ years) clinically diagnosed with TMD were screened. Patient records were analyzed regarding: pain on chief complain, amount of range of mouth opening, TMJ noises(clicking sounds, crepitus), pain on palpation of the TMJ and masticatory muscles and neck and upper back muscles. Differences between the groups were assessed using t-test and the chi-squared test. (SPSS v.17) P value <0.05 was considered statistically significant. Geriatric subjects more often exhibited crepitus on mouth opening (25%), muscular palpation pain of masseter muscles (82.5%) and temporal muscles(60%). In contrast, young subjects more frequently exhibited joint sounds (62.5%), more amount of range of passive mouth opening (p=0.043). It was found that the younger subjects (82.5%) and the older subjects (87.5%) suffered from subjective sign (orofacial pain on chief complain). There were not statistically significant relationships between orofacial pain (VAS) and the groups. Differences between the groups with respect to joint sounds, muscular palpation pain and mandibular range of motion were significant. Although older subjects more frequently exhibited objective signs (crepitus on opening, pain on muscular palpation) of TMD, younger subjects more frequently objective signs (clicking sound on mouth opening, amount of mandibular range of motion).

• Journal of Oral Medicine and Pain
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• v.32 no.4
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• pp.403-411
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• 2007

This investigation was carried out to evaluate the effect of Transcutaneous Electric Nerve Stimulation (TENS) to experimentally induced masticatory muscle pain and muscular fatigue. Twenty-nine healthy volunteers (18 men and 11 women, aged $26.1{\pm}4.7$ years) without past history or present symptoms of temporomandibular disorders were participated in this study. All of the subjects were randomly assigned to experimental group and control group, after at least 3 days interval, two groups were reassigned conversely. Subjects assigned to experimental group were received TENS and others assigned to control group were received sham-TENS therapy for 45 minutes, respectively. The changes of Visual Analogue Scale (VAS), Pressure Pain Threshold (PPT), and EMG power spectrum were measured on the masseter muscle both before and after sustained fatiguing contraction in each group. The major findings of this study are as follows : 1. PPTs and median frequencies of masseter muscles were significantly decreased after sustained isometric contraction resulting in muscular fatigue. 2. In experimental group received TENS therapy, PPTs measured both before and after occurrence of experimentally induced muscular fatigue were significantly increased. 3. In experimental group received TENS therapy, the changes of PPTs during sustained isometric contraction resulting in muscular fatigue were significantly decreased. 4. In experimental group received TENS therapy, VAS measured after occurrence of experimentally induced muscular fatigue was significantly decreased. 5. Although there were not statistical significances, endurance time was increased in experimental group received TENS therapy and decreased in control group received sham-TENS therapy. 6. In experimental group received TENS therapy, the changes of median frequencies were the less decreased and the slope of median frequency shift was the more increased during endurance time than in control group, however, there were not statistical significances.

• Clinical and Experimental Reproductive Medicine
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• v.32 no.1
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• pp.17-26
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• 2005

Objective: Preimplantation genetic diagnosis (PGD) is reserved for couples with a risk of transmitting a serious and incurable disease, and hence avoids the undesirable therapeutic abortion. In this study, we evaluated the efficacy of PGD for Duchenne muscular dystrophy (DMD) cases by the fluorescent PCR with polymorphic linked markers and the conventional duplex-nested PCR methods. Methods: Biopsy of one or two blastomeres was done from the embryos fertilized by ICSI on the third day after fertilization. We performed two cases of PGD-DMD by the duplex-nested PCR for the causative mutation loci and the SRY gene on Y chromosome. The triplex fluorescent PCR for the mutation loci, the SRY gene and the polymorphic microsatellite marker on X chromosome was applied for two cases of PGD-DMD. Results: By the duplex-nested PCR, successful diagnosis rate was 95.5% (21/22), but we could not discriminate the female embryos whether normal or carrier in this X-linked recessive disease. However, the triplex fluorescent PCR method showed 100% (27/27) of successful diagnosis rate, and all female embryos (n=17) were distinguished normal (n=10) from carrier (n=7) embryos. Unaffected and normal embryos were transferred into mother's uterus after diagnosis. A healthy normal male was achieved after PGD with the duplex-nested PCR method and a twin, a male and a female, were delivered with triplex fluorescent PCR method. The normality of dystrophin gene was confirmed by amniocentesis and postnatal genetic analysis in all offsprings. Conclusion: The fluorescent PCR with polymorphic marker might be useful in improving the specificity and reliability of PGD for single gene disorders.

• 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.