• The Journal of Internal Korean Medicine
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• v.29 no.3
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• pp.666-674
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• 2008

Objectives : The aim of this study was to evaluate gastrointestinal parasympathetic nerve activation and pyloric valve function in patients with functional dyspepsia through analysis of bowel sounds and to investigate clinical characteristics associated with the parameters of bowel sounds. Method : We surveyed clinical characteristics of patients by using a questionnaire about functional dyspepsia. Bowel sounds were recorded for 15 minutes during fasting state and for 40 minutes during postprandial state. We then classified the patients into 3 groups by abnormal states of bowel sounds, specifically by the percentage of B.S. and dominenet frequency, and studied clinical characteristics in each group. Results : Among the 182 subjects, patients who had low activity of parasympathetic nerve were 25.8% and showed a tendency of female-dominant, family history and more frequent abdominal pain. Those who had pyloric valve disturbance were 24.1% and showed no tendency by sex distribution, family history and complained of indigestion sensation. Patients who had both disorders were 10.9%, and their clinical characteristics were non-specific. Conclusion : Analysis of bowel sounds may be useful in evaluating pathophysiological factors of functional dyspepsia.

• Childhood Kidney Diseases
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• v.1 no.2
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• pp.183-188
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• 1997

Familial juvenile hyperuricemic nephropathy is an autosomal dominant disease characterized by progressive renal disease and hyperuricemia or gout, affecting young people of either sex equally. There are two biochemical markers of this disorder. The first is hyperuricemia disproportionate to the degree of renal dysfunction; the second is a grossly reduced clearance of uric acid relative to creatinine, dispropotionate to age, sex and degree of renal failure. We experienced 2 family members with hyperuricemia. One family member, a 13-year-old girl who had suffered from tophaceous gout and chronic renal failure. Her younger brother also had hyperuricemia and moderately reduced renal function. Their urinary excretion fractions of uric acid($FE_{uric\;acid}$) were reduced and renal biopsy specimens showed interstitial fibrosis with tubular atrophy and interstitial urate crystal deposition. We have treated these two patients with allopurinol but we have done renal transplantation because she progressed to end stage renal disease at 16 year old age.

• Journal of Genetic Medicine
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• v.13 no.1
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• pp.51-54
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• 2016

Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally located nuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distal dominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies show a high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However, Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one of the most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and his daughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocular symptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.24-27
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• 2018

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

• Journal of the Korean Institute of Landscape Architecture
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• v.23 no.1
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• pp.95-109
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• 1995

All human spatial behavior and psychological stress are affected by the 'Privacy'of each space. This Paper deals with the theoretical review of 'privacy'concept and establishment of 'Privacy Model' that can be a useful design tool. 'Privacy Index(Pl)' model of 10 point scale, which is based on 'Hierarchic system of Privacy' in urban spaces by Chermeyeff and Alexander(1963), was established as a hypothetical model in this study. And'Activity Suitability', based on each hierarchy of primacy level, was investigated at each site to construct the validity of 'Privacy Model'. Total 67 sites were investigated by on.-site questionnaire in 3 types of outdoor spaces, (Park), (Campus), and (Garden) respectively. The major results are as follows; 1. The P7rivacy level of earth spaces, distributed from to in and . and (Groun Private> spaces are dominant In , spaces are dondnant 2, Privacy level, based on , showed higher privacy level than that of . This means the criteria of each privacy level should be modified for more specific space. The . could be derived from the (Activity Suitability) of each space. 3.The cognition of privacy level. by user group, showed no significant difference in dach group by sex, age, education, and job, respectively.

• Journal of Yeungnam Medical Science
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• v.23 no.1
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• pp.118-123
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• 2006

Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited in an autosomal dominant pattern. DRPLA has been shown to be associated with expansion of an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12p. We evaluated a family with DRPLA that affected three members; A 35-year-old female presented with seven year history of gait ataxia, dysarthria and mild cognitive impairment. The MRI of the brain revealed diffuse cerebellar atrophy with an incidental lipoma in the midbrain. Her 30-year-old brother presented with progressive cerebellar ataxia that developed at the age of 20. Her grandmother and mother were reported to have developed ataxia during the late period of their life, and died at the age of 60 and 55, respectively. The demonstration of an expanded CAG repeat in the gene for DRPLA was used to confirm the diagnosis.

• Smart Structures and Systems
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• v.13 no.2
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• pp.319-341
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• 2014

A family of smart tuned mass dampers (STMDs) with variable frequency and damping properties is analyzed under harmonic excitations and ground motions. Two types of STMDs are studied: one is realized by a semi-active independently variable stiffness (SAIVS) device and the other is realized by a pendulum with an adjustable length. Based on the feedback signal, the angle of the SAIVS device or the length of the pendulum is adjusted by using a servomotor such that the frequency of the STMD matches the dominant excitation frequency in real-time. Closed-form solutions are derived for the two types of STMDs under harmonic excitations and ground motions. Results indicate that a small damping ratio (zero damping is the best theoretically) and an appropriate mass ratio can produce significant reduction when compared to the case with no tuned mass damper. Experiments are conducted to verify the theoretical result of the smart pendulum TMD (SPTMD). Frequency tuning of the SPTMD is implemented through tracking and analyzing the signal of the excitation using a short time Fourier transformation (STFT) based control algorithm. It is found that the theoretical model can predict the structural responses well. Both the SAIVS STMD and the SPTMD can significantly attenuate the structural responses and outperform the conventional passive TMDs.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.27-31
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• 2022

X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.

• Journal of the Korean Society of Fisheries and Ocean Technology
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• v.49 no.3
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• pp.238-249
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• 2013

Species composition and seasonal variation of aquatic organism in the marine ranchig ground of Taean, Korea were investigated using shrimp beam trawl from January to December 2010. A total of 99 species, $5,355,816ind./km^2$ and $84,697kg/km^2$ of aquatic organism were collected. Among them, fish include 9 orders 33 families 54 species, crustaceans include 2 orders 15 families 30 species, cephalopods consist of 3 orders 4 families 5 species, gastropods include 2 orders 3 families 4 species, echinoidea sp. include 1 order 2 families 2 species, bivalves were composed of 2 orders 2 families 2 species, and holothuroids include 1 family 1 order. According to the dominants by month, Palaemon gravieri was dominant in January, Cynoglossus joyneri was dominant in February, March, and June, and Hexagrammos otakii was dominant, in July. And Oratosquilla oratoria was dominant echinoidea sp. was dominant in April, May, and August and in September, October, November, and December. Cluster analysis based on species composition of the 38 most common species showed that the species were separated into 5 different groups. Group A was composed of species which were abundant in spring and summer, group B was composed of year-round residents, and group C was composed of species which were abundant in autumn.

• Journal of the Korean Institute of Landscape Architecture
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• v.37 no.1
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• pp.43-49
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• 2009

The number of registered vehicles increased to one million in 1985 and ten million in 1997, and the parking lots in multi-family housing complex that had been mainly constructed on the ground level began to be constructed in underground levels. Therefore, planting design in such complex were greatly changed. This study classifies the parking lots in multi-family housing complexes located in Cheongju into three categories: above-ground, mixture of above-ground and underground, and underground. The characteristics of planting design in each were then analyzed. The rate of parking per family increased by two or more in the type of mixture when compared to in the type of above-ground. As underground parking lots became dominant, the rate of parking per family increased to one car or more. The green area ratio did not change considerably when above-ground parking was combined with underground parking, but the green area per total floor space was reduced, which indicates the quality of green area became lower. Most of the parking lots in multi-family housing complexes since 2000 have been constructed underground, and the green area became larger. As for the species of trees used in planting design, trees that are vulnerable to damage by blight and harmful insects and may be repugnant have been reduced and replaced by trees whose shapes are beautiful and whose flowers and fruits can be appreciated, such as Chionanthus retusa, Malus floribunda, Styrax japonicus, Prunus mume, Lagerstroemia indica. Pine trees are variously planted with diversified standards, and, in particular, tall pine trees are being utilized as focal points. Herbaceous flowers began to be planted in underground parking lots constructed since 2000, and they are expected to be planted even more due to the appreciation of their flowers and their splendid appearance.