• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.8-12
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• 2016

Mucolipidosis (ML) is a kind of skeletal dysplasia. Characteristic X-ray findings of the bone may contribute to the early diagnosis and treatment of ML II/III. Skeletal radiographs show distinctive patterns at different ages: neonatal hyperparathyroidism, osteodystrophy (similar to chronic osteitis fibrosa cystica), and dysostosis multiplex. Patients with ML II/III show a mixture of osteodystrophic bone changes and atypical changes of dysostosis multiplex: proximal pointing of the metacarpals in the wrist, dysplastic changes in the lower third of the ilia, marked broadening of the ribs becoming oar-shaped, and beaking of the lower thoracic and lumbar vertebrae. In ML II, the osteodystrophy has clinical and radiographic features of neonatal hyperparathyroidism. In some neonatal subjects, chemical hyperparathyroidism is also demonstrated. After transient hyperparathyroidism in newborns, the progressive osteitis fibrosa cystica develops from 3-6 months of age. Patients with ML III show prominent skeletal involvement, particularly the destruction of vertebral bodies and the femoral heads. Intravenous pamidronate treatment is well tolerated, and it can produce clinical effects, with a reduction in bone pain and improvements in mobility in patients with ML III. In this review, the skeletal manifestations of ML II and III are investigated.

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.13-16
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• 2016

Mucolipidosis (ML) II/III are autosomal recessive diseases caused by deficiency of post-translational modification of lysosomal enzymes. The mannose-6-phosphate (M6P) residue in lysosomal enzymes synthesized by N-acetylglucosamine 1-phosphotransferase (GlcNAc-phosphotransferase) serves as recognition marker for trafficking in lysosomes. GlcNAc-phosphotransferase is encoded by GNPTAB and GNPTG. Mutations in GNPTAB cause severe ML II alpha/beta and the attenuated ML III alpha/beta. Whereas mutations in GNPTG cause the ML III gamma, the attenuated type of ML III variant. For the diagnostic approaches, increased urinary oligosaccharides excretion could be a screening test in clinically suspicious patients. To confirm the diagnosis, instead of measuring the activity of GlcNAc phosphotransferase, measuring the enzymatic activities of different lysosomal hydrolases are useful for diagnosis. The activities of several lysosomal hydrolases are decreased in fibroblasts but increased in serum of the patients. In addition, the sequence analysis of causative gene is warranted. Therefore, the confirmatory diagnosis requires a combination of clinical evaluation, biochemical and molecular genetic testing. ML II/III show complex disease manifestations with lysosomal storage as the prime cellular defect that initiates consequential organic dysfunctions. As there are no specific therapy for ML to date, understanding the molecular pathogenesis can contribute to develop new therapeutic approaches ultimately.

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.5-7
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• 2016

Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose-6-phosphate recognition marker is not synthesized onto lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase ML II, recognizable at birth, often causes intrauterine growth impairment and sometimes the prenatal "Pacman" dysplasia. The main postnatal manifestations of ML II include gradual coarsening of neonatally evident craniofacial features, early cessation of statural growth and neuromotor development, dysostosis multiplex and major morbidity by hardening of soft connective tissue about the joints and in the cardiac valves. Fatal outcome occurs often before or in early childhood. ML III with clinical onset rarely detectable before three years of age, progresses slowly with gradual coarsening of the facial features, growth deficiency, dysostosis multiplex, restriction of movement in all joints before or from adolescence, painful gait impairment by prominent hip disease. Cognitive handicap remains minor or absent even in the adult, often wheelchair-bound patient with variable though significantly reduced life expectancy. As yet, there is no cure for individuals affected by these diseases. So, clinical manifestations and conservative treatment is important. This review aimed to highlight the extra-skeletal clinical problems in ML II and III.

• 경영과학
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• 제2권
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• pp.59-71
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• 1985

선형계획법은 경영과학 (Operations Research)에 있어서 가장 널리 활용되고 있는 모형중에 하나이다. 그래서 선형 계획법과 같이 깊이 연구된 모형도 없을 것이며 이 모형과 같이 다양한 전산프로그램이 있는 모형도 없을 것이다. 전산기 제조회사는 거의 모두 자체 선형계획법용 프로그램을 제공하고 있으며 예를 들면 IBM MPSX/370, CDC APEX III, UNIVAC MPS, HONEYWELL ALPS, FACOM LIPS 등이 있으며 전산기 제조회사가 아니더라도 독자적으로 선형계획법 프로그램을 개발하여 제공하는 곳도 있다.(중략)

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권1호
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• pp.27-27
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• 2016

• Journal of Electrical Engineering and Technology
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• 제7권2호
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• pp.141-150
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• 2012

The present study examines an efficient congestion management system compatible with the evolving environment. The key is to build an information model shared and exchanged for marketbased solutions to alleviate congestion. Traditional methods for congestion management can be classified into two categories, i.e., the centralized scheme and the decentralized scheme, depending on the extent to which the independent system operator (ISO) is involved in market participants' (MPs) activities. Although the centralized scheme is more appropriate for providing reliable system operation and relieving congestion in near real-time, the decentralized scheme is preferred for supporting efficient market operation. The minimum set of information between the ISO and MPs for decentralized scheme is identified: i) congestion-based zone, ii) Power Transfer Distribution Factors, and iii) transmission congestion cost. The mathematical modeling of the proposed information is expressed, considering its process of making effective use of information. Numerical analysis is conducted to demonstrate both cost minimization from the MP perspective and the reliability enhancement from the ISO perspective based on the proposed information exchange scheme.

• Journal of mucopolysaccharidosis and rare diseases
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• 제3권2호
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• pp.41-43
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• 2017

Prader-Willi syndrome (PWS) is a genetic disorder that is considered, especially on child, to cause poor feeding, hypotonia, failure to thrive, developmental delay and hypogonadism which is known to affect between 1 in 10,000 and 30,000 people. The children with PWS are viewed as affected by growth hormone (GH) insufficiency, although the exact mechanisms of GH deficiency are not fully understood. However, the benefits of GH treatment in children with PWS are well established. Myers, et al. (2006), Grugni, et al. (2016) indicated its positive effects on linear growth, body composition, motor function, respiratory function and psychomotor development. Despite of its effectiveness and advantages had been well known and proven in many other studies, there is only one recombinant GH product that is approved for PWS in Korea, $Genotropin^{(R)}$, till now. A phase III clinical study of GH treatment with $Eutropin^{TM}$, in 34 Korean PWS children is in progress, which is expected to have comparable effects and safety profile with the active control by assessing auxological changes such as height standard deviation score, body composition changes such as lean body mass and percent body fat, motor and cognitive development using Bayley scale, and safety profiles.

• 대한치과보철학회지
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• 제35권1호
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• pp.31-42
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• 1997

This study was performed to investigate the surface roughness of the Cerec Vita Mark II polished by various polishing techniques, compare with that of the Vintage enamel porcelain glazed by high temperature glazing technique. All of the Cerec specimen were finished with sequential use of high speed diamond burs(grit 45, 30 and $15{\mu}m$). The groups were divided into 5 groups : Group I : Cerec Vita Mark II block specimens polished with Sof-lex discs. Group II : Cerce Vita Mark II block specimens polished with Two Striper MPS. Group III : Cerce Vita Mark II block specimens polished with Enhance. Group IV : Cerce Vita Mark II block specimens polished with Porcelain laminate polishing FG kit. Group V : Vintage enamel porcelain glazed by high temperature glazing Technique. Each group was consisted of 10 specimens. The surfaces produced were examined quantitatively using a laser specular reflectance machine(Perthen RM600-s, Feinpruf Perthen GmbH., Germany) and qualitatively under SEM(JSM-5400, JEOL, Japan). The Results were as follows : 1. The arithmetic mean roughness value(Ra) in groups 1, 2, 3 and 4 was higher than that of group5. There was statistically significant difference(P<0.05). 2. The arithmetic mean roughness value(Ra) decreased in the following orders : group 1, group 2, group 4, group 3 and there was no statistically significant difference between group 1 and group 2, group 3, and group 4. There was statistically significant difference among group 1, 2, and group 3, 4 and group 5(P<0.05). 3. The maximum individual peak-to-valley-height(Rmax) decreased in the following orders : group 2, group 1, group 4, group 3, group 5 and there was no statistically significant difference between group 1 and 2, group 1 and group 4, group 3 and group 5. There was statistically significant difference among group 1, 2, and group 1, 4 and group 3, 5(P<0.05). 4. The treated surfaces of group 5 had smoother surface than that of groups 1, 2, 3, 4 with SEM.