• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.93-101
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• 2016

Purpose: McArdle disease, glycogen storage disease type V (GSD V), is one of the most common adolescent-onset glycogen storage diseases. It is caused by recessive mutations in PYGM encoding myophosphorylase, which is critical to glycogen metabolism. Since only a few korean patients have been reported, we will observe the clinical and genetic features of three korean patients with McArdle disease. Methods: We retrospectively reviewed the medical records of three patients with genetically confirmed McArdle disease, including the results of forearm ischemic exercise test, electromyogram, nerve conduction velocity, muscle biopsy, and PYGM analysis in peripheral leukocytes. Results: All three cases were males and their age of symptom onset was 12, 5, 14 years old, respectively. A high basal level of serum creatine kinase was noted in all three patients. They experienced the recurrent episodes of rhabdomyolysis, but second wind phenomenon was not definite. In muscle biopsy, subsarcolemmal space vacuoles including periodic acid schiff stained materials were found in two patients, while no evidence of glycogen storage disease was found in the other. A total of five different mutations, $p.Arg50^*$, p.Trp798Arg, $p.Arg50^*$, p.Glu779del, $p.Asp511Thrfs^*28$ and p.Phe710del, were found in three patients. Avoidance of isometric exercise, aerobic exercise and glucose intake before each exercise were recommended for all patients. Conclusion: The three Korean patients with McArdle disease showed the typical manifestations of the condition. The most mutations were private. Therefore, identification of more cases with long-term follow-up will be required to understand the clinical and genetic features of this disease among Korean population.

• Journal of the Korean Institute of Landscape Architecture
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• v.18 no.2
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• pp.45-55
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• 1990

This study describes on the erosion control effects of the several grasses and its mixtures for the man-made slopes. The grasses used for this experiment include cool-season grasses such as Festuca rubra L. (Creeping redfescue), Poa pratensis L. (Kentucky bluegrass), Lolium perenne L. (Perenial ryegrass), Lolium multiflorum LAM. (Italian ryegrass), Festuca arundinacea Schrel. (Tall fescue), and warm-season grasses such as Eragrostis curvula Schrad. (Weeping lovegrass), Zoysia japonica Steud. (Zoysiass) and native plants (Artemisia princeps var. orientalis Hara, Lespedeza cuneata G. Don, Arundinella hirta var. ciliata K.) This study was conducted at Dan-kook University from April, 1988 to Octover, 1989. The results are summurized as follows; 1.Cool-season grasses covered the ground quickly in early stage, and weekened slowly during sumer season. Warm-season grasses and native-plants covered the ground slowly in early stage, but during summer season they grew vigorously, so outweighed cool season grasses. 2. The amount of aboveground growth of weeping locearass and underground growth of Artemisia prinoepts are quite differant from others. Since Arumdinella hirta has deep root system, it is thought to very useful protection of unstable for hrdro-seeding. Because cool-season grasses are useful for quick coverage, and native plants or warm-season grow well during summer season with the better compatability to weeds. 3.Mixture III(cool-season and warm-season grasses), mixtureIV(native spp. and Italian ruegrass), and mixtureV(native spp.) resulted in better control of erosion control on man-made slopes. Native spp. has equivallent capacity of erosion control compared to several foreign grasses.

• The Korean Journal of Nuclear Medicine Technology
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• v.15 no.1
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• pp.113-116
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• 2011

Purpose: Acetylcholine receptor antibodies cause acetylcholine receptor loss, which is responsible for failure of the neuromuscular junction in the acetylcholine receptor autoantibody. The disease characterized by muscle weakness and fatigue, myasthenia gravis(MG) occurs when the body inappropriately produces antibodies against acetylcholine receptors, and thus inhibits proper acetylcholine signal transmission. And this reason, the measurement of acetylcholine receptor antibodies can be of considerable value in disease diagnosis. Methods: From 2010. August to September, we tested orderd AchRAb 19 samples to get the results. 1. Pipette $5{\mu}{\ell}$ undiluted patient sera and kit control and add 125I AChR $50{\mu}{\ell}$ and incubate at R.T for 2 hours. 2. Pipette $50{\mu}{\ell}$ of anti-human IgG into each tube, and incubate at $2{\sim}8^{\circ}C$ for 2 hours. 3. Pipette $25{\mu}{\ell}$ precipitation enhancer into each tube and add 1mL washing solution into all tubes. 4. Centrifuge each tube for 20minutes at $2{\sim}8^{\circ}C$ at 1500g. 5. Aspirate or decant the supernatant. 6. Pipette 1 mL washing solution into all tubes and resuspend the pellet and repeat centrifugation. 7. Aspirate or decant the supernatant and count all tubes on a gamma counter. Results: Cut off value is 0.2 nmol/L and the results taken below 0.2 nmol/L are negative, the results above that identified as being positive values. We assayed the 19 patients samples and got 7 positive results. Of which, 6 patients were diagnosed as MG.(85.7%). Conclusions: Acetylcholine Receptor autoantibody test is intended for use by persons only for the quantitative determination of it in human serum. Even if measurement of the antibodies is not a routine test, it can be of considerable value in disease diagnosis.

• Journal of the korean academy of Pediatric Dentistry
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• v.40 no.1
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• pp.66-71
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• 2013

Muscular dystrophy is a genetically heterogeneous group of disorders characterized by progressive muscle weakness of variable distribution and severity. Fukuyama type congenital muscular dystrophy (FCMD) is an unusual form of muscular dystrophy with autosomal recessive inheritance and is clinically characterized by an early age of onset, severe central nervous system involvement, facial muscle weakness, and multiple joint contractures. Muscular dystrophy is susceptible to perioperative respiratory, cardiac and other complications. Patients with FCMD have upper airway muscle weakness, therefore general anesthesia is preferred to sedation regarding maintaining the airway when treating these patients. The development of malignant hyperthermia in general anesthesia for patients with muscular dystrophy is a concern. Total intravenous anesthesia should be used instead of inhaled anesthetics because of the risk of malignant hyperthermia. A 3-year-9-month old, 13kg girl with Fukuyama type congenital muscular dystrophy was scheduled for dental treatment under general anesthesia. She had multiple caries and 14 primary teeth needed caries treatment. Prior to general anesthesia, oral premedication with 9 mg midazolam was given. General anesthesia was induced and maintained with target controlled infusion of propofol $3{\sim}3.5{\mu}g/mL$. The patient with progressive muscular dystrophy was successfully treated under total intravenous anesthesia with a target controlled infusion of propofol. There were no complications related to anesthesia and dental treatment during or after the operation. This case suggests that target controlled infusion of propofol is a safe and appropriate anesthetic technique in FCMD patients for dental treatment.

• Journal of the Korean Orthopaedic Association
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• v.56 no.1
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• pp.42-50
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• 2021

Purpose: Periprosthetic fractures of a tumor prosthesis are rare but have difficulties in achieving sound fixation because of the poor bone quality, which increases the risk of loosening or re-fracture, even after bone union. A cortical strut onlay allograft was adopted for peri-prosthetic fractures after hip arthroplasty into the periprosthetic fracture of a tumor prosthesis, assuming that it would assist in firm fixation, shorten the time to union, and increase the bone stock, thereby, lower the chance of loosening and re-fracture. Materials and Methods: This study reviewed 27 patients (30 cases) of periprosthetic fracture of tumor prosthesis. Sixteen cases (allograft group) had augmentation with an onlay allograft, while 14 cases (conventional group) had internal fixation or conservative treatment. The following were assessed; mode of periprosthetic fracture, difference in the time to union between a strut cortical onlay allograft and without it, and survival of prosthesis, complication, and functional outcome between the two groups. Results: According to the unified classification system (UCS), 21 cases were type B (70.0%; B1, 14; B2, 1; B3, 6) and 9 cases were type C. The five-, 10-year survival of the 30 reconstructions by Kaplan-Meier plot was 84.5%±4.18% and 42.2%±7.83%, respectively. The average time to bone union of the entire cohort was 5.1 months (range, 2.0-11.2 months). The allograft group (3.5 months) showed a shorter period for union than the conventional group (7.2 months) (p<0.0001). All four cases of major complications occurred in the conventional group. Two cases with loosening and anterior angulation were treated with a change of prosthesis, and another with infection underwent amputation. The remaining case with loosening had conservative management. At the final follow-up, the average Musculosketal Tumor Society score of the allograft group (26.1) was better than that of the conventional group (20.9). Conclusion: Bone union in periprosthetic fractures of a tumor prosthesis can be achieved, but the minimization of complications is important. An onlay allograft facilitates firm fixation and increases the bone stock with a shortened time to union. This simple method can minimize the risk of loosening, joint contracture, and re-fracture.