• Journal of Genetic Medicine
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• v.2 no.1
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• pp.23-26
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• 1998

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which has been clinically shown to cause progressive weakness and result in atrophy of the facial muscles, shoulder girdle and upper arm muscles. The responsible gene for the FSHD has been located on chromosome 4q35-qter. The probes p13E-11 and pFR-1 detect DNA rearrangements associated with FSHD as under 28 kb DNA fragment in genomic southern analysis digested with EcoRI and the fragment contains 3.3 kb Kpn I tandem repeats. In this study, 4 fetuses with a family history of FSHD were analysed by genomic southern hybridization analysis with probes to determine whether they carried the deleted region. Of the 4 fetuses, three of them had mothers who were FSHD patients and the other one had a father affected with FSHD. After 10-11 weeks of gestation, we performed chorionic villi sampling and extracted DNA from uncultured and cultured tissue cells for the direct DNA analysis. The result of the southern analysis showed two fetuses having received about 15-18 kb of deleted genes from the father and the mother respectively, and found to be FSHD patients. The other two fetuses were shown to have two normal alleles from the parents and found to be normal. Two pregnancies which were determined to be normal were carried to term delivering two healthy babies.

• Archives of Plastic Surgery
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• v.35 no.1
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• pp.56-61
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• 2008

Purpose: There was no controlled study on botox injection and neurectomy for treatments of muscle hypertrophy. Although many studies have shown the clinical effects of each treatment, it was not able to evaluate and compare the effects of each treatment because there was no comparison of the two treatments under the same experimental condition. Hence, the aim of this study is to com Methods: The study was carried out on 21 rabbits. 9 rabbits received botox injection(botox injection group), and neurectomy was performed to another 9 rabbits (neurectomy group). 3 rabbits did not receive any treatment(control group). To compare and analyze the effects of muscular atrophy, muscle was stained with NADH-TR, and the changes in size of the muscle fiber were examined. And the electromyography was examined. In each group, muscle fiber was stained and electromyography was performed 2, 3, and 6 months after injection or operation. Results: In histological test and electromyography, in the neurectomy group, the size of muscular fiber and amplitude of electromyography decreased until 2 months after neurectomy. And decreased results were maintained with the passage of time. It showed irreversible aspect. On the other hand, in the botox injection group, the decrease in the size of muscular fiber and amplitude of electromyography was observed until 2 months after injection. In 3 months after the injection, it was slowly getting back to original size and had almost recovered by 6 months after the injection. It showed reversible aspect. Conclusion: This study shows researches about clinical effect of botox injection and neurectomy coincide with the results of experiment under the same experimental condition.

• Annals of Clinical Neurophysiology
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• v.12 no.2
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• pp.70-72
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• 2010

We report a 53-year-old male having Kennedy disease who complained of severe bilateral tinnitus and autophony. He was diagnosed as patulous Eustachian tube based on the observation of fluttering motion of the tympanic membrane associated with respiration, which is presumed to occur secondary to bulbar weakness. The patulous Eustachian tube affected the management of his respiratory problem by impairing his ability to tolerate BiPAP. We report this rare condition with a literature review.

• Annals of Clinical Neurophysiology
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• v.5 no.2
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• pp.202-209
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• 2003

Postpolio syndrome (PPS) refers to a constellation of neuromuscular and orthopedic symptoms and signs that have been noted to occur in patients with remote antecedent poliomyelitis. It has been increasingly recognized that individuals recovering from acute poliomyelitis develop new symptoms, most commonly weakness, fatigue, and pain that develops decades after initial disease in the region previously affected. Associated symptoms may include dysphagia, respiratory insufficiency, new muscular atrophy, dysarthria, muscle cramps, fasciculations, sleep abnormalities, and cold intolerance. Although the concepts of PPS was first described in the late 1800s, it was not until nearly 100 years later that the concept of PPS was more widely recognized and defined. This was due largely to the polio epidemic of the 1940s and 1950s that left many survivors in the world. The virtual epidemic of PPS that occurred among these polio survivors in the 1980s and 1990s has served as a catalyst to attract medical attention to this syndrome.

• Journal of the Korea Society of Computer and Information
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• v.24 no.9
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• pp.97-102
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• 2019

Several studies have recently demonstrated that skeletal muscle is an endocrine organ releasing and expressing myokines acting in an endocrine or paracrine manner. Irisin is a hormene-like myokine induced after physical exercise by muscle fibers. It was primarily recognized as a molecule able to advance the "browning response" in white adipose tissue, however, it has been recetly identified that irisin also has a fundamental role in the control of bone mass. We study evidence for its possible skeletal effects, including the fundamental role that irisin is involved in the control of bone mass, with beneficial effects on geometry and cortical mineral density. As loss of muscle mass and bone density occurs with immobility, metabolic disease and aging, future studies researching the efficacy of irisin in reversing muscle wasting and restoring bone would be important to proving irisin as a molecule that combines helpful effects for treating muscular atrophy and osteoporosis in elderly people.

• Clinical Pain
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• v.19 no.2
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• pp.101-105
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• 2020

Benign monomelic amyotrophy (BMA) is a benign motor neuron disease in which amyotrophic change is confined to either the upper or the lower extremities. Numerous cases of BMA have been reported from Japan and India. However, only a few cases have been reported from other regions, including South Korea. Here we report a rare case of late-onset BMA in Korean male using conventional diagnostic approach with magnetic resonance imaging and electromyography. The patient received ten sessions of manual therapy, which focused on strengthening of the left ankle. At two-month follow up, weakness was still isolated to the patient's left ankle. There were no signs of disease progression.

• 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.

• Journal of Nutrition and Health
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• v.56 no.6
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• pp.602-614
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• 2023

Purpose: The balance between synthesis and degradation of proteins plays a critical role in the maintenance of skeletal muscle mass. Mitochondrial dysfunction has been closely associated with skeletal muscle atrophy caused by aging, cancer, and chemotherapy. Polygalacin D is a saponin derivative isolated from Platycodon grandiflorum (Jacq.) A. DC. This study aimed to investigate the effects of polygalacin D on myoblast differentiation and muscle atrophy in association with mitochondrial function in in vitro and in zebrafish models in vivo. Methods: C2C12 myoblasts were cultured in differentiation media containing different concentrations of polygalacin D, followed by the immunostaining of the myotubes with myosin heavy chain (MHC). The mRNA expression of markers related to myogenesis, muscle atrophy, and mitochondrial function was determined by real-time quantitative reverse transcription polymerase chain reaction. Wild type AB^* zebrafish (Danio rerio) embryos were treated with 5-fluorouracil, leucovorin, and irinotecan (FOLFIRI) with or without polygalacin D, and immunostained to detect slow and fast types of muscle fibers. The Tg(Xla.Eef1a1:mitoEGFP) zebrafish expressing mitochondria-targeted green fluorescent protein was used to monitor mitochondrial morphology. Results: The exposure of C2C12 myotubes to 0.1 ng/mL of polygalacin D increased the formation of MHC-positive multinucleated myotubes (≥ 8 nuclei) compared with the control. Polygalacin D significantly increased the expression of MHC isoforms (Myh1, Myh2, Myh4, and Myh7) involved in myoblast differentiation while it decreased the expression of atrophic markers including muscle RING-finger protein-1 (MuRF1), mothers against decapentaplegic homolog (Smad)2, and Smad3. In addition, polygalacin D promoted peroxisome proliferator-activated receptor-gamma coactivator (Pgc1α) expression and reduced the level of mitochondrial fission regulators such as dynamin-1-like protein (Drp1) and mitochondrial fission 1 (Fis1). In a zebrafish model of FOLFIRI-induced muscle atrophy, polygalacin D improved not only mitochondrial dysfunction but also slow and fast muscle fiber atrophy. Conclusion: These results demonstrated that polygalacin D promotes myogenesis and alleviates chemotherapy-induced muscle atrophy by improving mitochondrial function. Thus, polygalacin D could be useful as nutrition support to prevent and ameliorate muscle wasting and weakness.

• 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.

• Applied Microscopy
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• v.25 no.4
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• pp.26-51
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• 1995

The present study was designed to examine effect of long term weight-training on aging atrophy in the rat skeletal muscle. Male rats of 8, 15, and 24 month old were used. Each age groups included control and weight-training for 5 months by using body press apparatus. The histo- and cytochemical, ultrastructural and stereological changes in aging skeletal muscles of the rat were observed in the present study. During the training period the body weight and muscular weight in all groups except the rectus femoris and the gastrocnemius in young age groups remained constant, but muscular weights were increased in the rectus femoris and the gastrocnemius muscles in young age groups. In trained rat, the volume density of muscle fiber type IIA and IIB were increased, but those of type IIC was decreased. Type I remained constant in 8 and 15 month old age groups, but reduced in the tibialis anterior and the gastrocnemius muscles in the 24 month old groups. Some histotological and ultrastructural changes associated with age were found: numerical increase of cytiplasmic vacuoles, lysosomes, lipofuscins, and irregularity of myofibrils. At 24 month old groups some unusual formation of contraction band and muscle splitting were observed. After weight-training, ultrastructural degenerative changes occured in the type I muscle fiber, such as splitting of muscle fiber, disorganization of myofilaments, swelling of mitochondria, accumulation of many lipid droplets, appearance of many lysosomes and residual bodies and necrotic fibers, in the old age groups. But, in the type II muscle fibers hypertrophy of muscle fiber appeared without any noticible damage as the type I. The activities of $Mg^{++}$ -ATPase decreased with age and this enzyme activities in the trained rat were significantly decreased with age. Activities of the acid phosphatase were increased with age and significantly in the trained rat. In stereological analysis, volume density of the myofibrils and the tubular system were increased, on the other hand there mitochondrial capacity was decreased. These experimental results suggested that old rats are not susceptible to be affected by weight-training as young rats, and that physical capacity of the rats must be considered when old rats are exercised for training.