• Computational Structural Engineering
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• v.10 no.2
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• pp.243-254
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• 1997

When dynamic loads such as mechanical load, wind load, and seismic load, which causing a vibration, acts on the body of the 3-D framework resting on soil foundation, it is required to consider the dynamic behavior of soil-space framework interation system. Thus, this study presents the 3-dimensional soil-interaction system analyzed by finite element method using 4-node plate elements with flexibility, 2-node beam elements, and 8-node brick elements for the purpose of idealizing an actual structure into a geometric shape. The objective of this study is the formulation of the equation for a dynamic motion and the development of the finite element program which can analyze the dynamic behavior of soil-space framework interaction system.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1996.04a
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• pp.87-87
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• 1996

상기도 점막의 분비세포와 이로부터 분비되는 점액은 각 부위에 따라 형태학적, 기능적 특성이 다르다. 특히 후두의 성대부위는 발성시 고속의 마찰진동이 있게 되어 성대상피를 보호하기 위한 윤활제 역할의 점액이 필요하다. 점탄성과 밀접한 연관이 있는 점액당단백질 분비세포의 조성비율과 밀도를 알기 위해서 개 10마리의 후두, 기관, 상악동, 비강점막을 채취하여 periodic acid-Schiff, alcian blue 1.0, alcian blue 2.5, high iron diamine-alcin blue염색을 하여 다음과 같은 결론을 얻었다. 1. 후두점막에서 선포의 밀도는 성문부의 후두실 상부에서 가장 높았다. 2. 후두점막에서 점액세포의 조성은 성문상부에서 가장 높았고, 장액세포의 조성은 성문부에서 가장 높았다. 3. 황화점액의 조성비는 성문부가 성문상부, 성문하부보다 유의하게 높았고, 후두의 세 부위와 기관에서 상악동과 비강보다 유의하게 높았다. 4. 타액점액의 조성비는 성문부에서 성문하부보다 유의하게 낮았으며, 성문부는 성문상부에 비해서도 통계적 유의성은 없었으나 낮은 경향을 보였다. 5. 상기도의 각 부위에서 당단백질의 조성비는 모든 부위에서 중성점액이 가장 높았고 산성점액중 성문부에서는 황화점액이 타액점액보다 유의하게 높았으며 성문하부, 상악동, 비강에서는 타액점액이 황화점액보다 유의하게 높았다. 이상의 결과에서 성문부에서 나타나는 높은 장액세포의 비율과 점액당단백질 조성의 특징이 성문부 점액의 성대운동에 대한 윤활작용에 적합한 생리적 역할을 담당하는 것으로 생각된다.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.425-432
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• 2005

Purpose : Polyglutamine diseases are a group of diseases caused by the expansion of a polyglutamine tract in the protein. The present study was performed to verify if polyglutamine disease transgenic Drosophila models show similar dysfunctions as are seen in human patients. Methods : Polyglutamine disease transgenic Drosophila were tested for their climbing ability. And using genetic methods, the effects of anti-apoptotic gene bcl-2 and chemical chaperones on neurodegeneration were observed. Also, spinocerebellar ataxia 2 (SCA2) transgenic Drosophila lines were generated for future studies. Results : Expanded forms of spinocerebellar ataxia 3 (SCA3) transgenic protein causes characteristic locomotor dysfunction when expressed in the nervous system of Drosophila but the anti-apoptotic gene bcl-2 shows no evidence of ameliorating the deleterious effect of the expanded protein. However, Glycerol, a chemical chaperone, seemed to reduce the toxicity, at least in the eyes of the transgenic flies. The level SCA2 expression is too weak in the transgenic SCA2 Drosophila for evaluation. Conclusion : SCA3 transgenic Drosophila show ataxic behavior as observed in human patients. Chemical chaperones such as glycerol may prove beneficial in this class of genetic disease, which has no current method of cure.

• Journal of the Korean earth science society
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• v.21 no.4
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• pp.423-436
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• 2000

The lithofacies, biofacies, and paleosol development of the Jindong Formation, the Geoncheonri Formation, and the lacustrine deposits of Mt. Hwangryeong at Pusan, which occur in the southeastern part of the Gyeongsang Basin, were analyzed in comparative sedimentology and in stratigraphy. The common features of these lacustrine deposits are: 1) clastic deposits are prevailing, 2) deltaic deposits are not associated, 3) mudflat deposits are common, and 4) stromatolites are absent. The distinct differences among these deposits are: 1) in the Jindong Formation, the mudflat deposits are predominant, pedogenic calcretes are commonly present, and dinosaur tracks frequently occur, compared with other two lacustrine deposits, and 2) in the Geoncheonri Formation, invertebrate fossils are relatively common and storm deposits are not recognized, compared with other deposits, and 3) evaporite mineral casts and tuffaceous turbidite deposits are common in the Mt. Hwangryeong lacustrine deposits. In stratigraphy, the Geoncheonri Formation is correlated with the lower part of the Jindong Formation, and the Mt. Hwangryeong lacutsrine deposits are deemed to overlie the Jindong Formation. On the basis of comparative sedimentology and stratigraphic relationship among these lacustrine deposits, general paleoenvironements of the southeastern part of the Gyeongsang Basin from the late Hayang time to the early Yucheon time are interpreted as follows. During the late Hayang time, tectonic and volcanic activities were generally inacitive in the Gyeongsang Basin, and lacustrine environments expanded since the paleoclimatic condition became less arid compared with the middle Hayang time. In general, however, paleoclimate during the late Hayang time was still arid, and wetting and drying periods were alternated. The occasional occurrences of severe droughts were also characteristic of the late Hayang time. Mudflats existed in wide area in the southeastern part of the Gyeongsang Basin during the late Hayang time, and sedimentation rate was accordingly low. The sedimentation rate became relatively high during the latest Hayang time and the early Yucheon time since tectonic and volcanic activities had been active. Generally arid climate continued for the early Yucheon time, enough for evaporite minerals to precipate occasionally.

• KSCE Journal of Civil and Environmental Engineering Research
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• v.8 no.1
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• pp.77-85
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• 1988

A stochchastic analysis procedure of generating floor response spectra for proportionally damped linear systems subject to earthquake loading is presented. Theories of random vibration and mode acceleration method are used in the formulation of governing equations. The structure-oscillator interaction is not considered. It is assumed that the input motions and oscillator responses are stationary Gaussian processes with mean zero. The nonstationary characteristics of earthquake motion are incorporated in the peak factor which is based on Vanmarcke's theory. Floor response spectra for both resonance and non-resonance cases are calculated under the assumption that the peak factors for structure and oscillator are equal to that for ground response spectrum. The validity of this method is demonstrated by comparing the results obtained by proposed method with those by time history analyses. The results obtained by this method are conservative and accurate with tolerable precision. This method saves much computing time compared with time history analysis method.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.47-51
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• 2016

Propionic acidemia (PA) is an autosomal recessively inherited disorder of the organic acid metabolism. It is caused by a deficiency of propionyl-CoA carboxylase (PCC). PCC is a heteropolymeric enzyme composed of ${\alpha}$- and ${\beta}$-subunits. The clinical symptoms of PA are heterogeneous and present vomiting, dehydration, hypotonia, and lethargy, and it can result in death. The typical presentations of neonatal onset PA are life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of neonatal onset PA with mild clinical presentations. She was born to a healthy mother without complications. No significant illness was observed until nine days after birth. She started exhibiting poor oral feeding, vomiting, lethargy, and hypotonia at ten days old. Her laboratory results showed mild hyperammonemia and acidosis. The initial diagnosis was neonatal sepsis and she was treated with antibiotics. However, her clinical symptoms didn't improve. So we considered a metabolic disease. She was given nothing by mouth and intravenous hydration and nutrition support was performed. Propionylglycine and 3-hydroxypropionic acid were showed high concentrations in urine by gas chromatograph mass spectrometry (GC-MS). C3 level of acylcarnitine analysis elevated 10.4 uM/L (range, 0.200-5.00) in plasma. We took gene analysis for PA to be based on the symptoms and laboratory results. We detected PCCB gene mutation and diagnosed PA. She survived without severe neurologic defects and complications and was hospitalized only three times with upper respiratory tract infections for 7 years. We report a case of a ten days old neonate with PA presenting without severe metabolic acidosis and hyperammonemia who was effectively treated with early aggressive care and conventional methods.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.55-62
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• 2017

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by beta-glucosidase deficiency. An 18 month-old male with hepatosplenomegaly, anemia, thrombocytopenia, and growth retardation referred to our hospital. The patient showed neurological symptoms, such as supranuclear gaze palsy and developmental delay. Bone marrow biopsy performed to rule out malignancy and the results revealed no malignant cell; however, abnormal histiocytes suggesting storage disease was noted. Based on hepatosplenomegaly, bicytopenia and unexplained neurologic manifestations, enzyme activity and genetic analysis were conducted emergently with a strong suspicion of GD. Beta-glucosidase activity in leukocyte was decreased. GBA sequencing to confirm the diagnosis revealed compound heterozygous pathogenic variants (i.e., c.754T>A, c.887G>A), both previously reported as the cause of neuronopathic GD. Under the diagnosis of type 3 GD, the patient immediately received enzyme replacement therapy (ERT). After 17 months of ERT, the size of spleen decreased, and hemoglobin and platelet count returned to normal. In addition, the activity of chitotriosidase and angiotensin converting enzyme decreased. However, myoclonic movement and generalized seizure occurred at the age of 19 months and antiepileptic drug was started. Other neurological deterioration including supranuclear gaze palsy and developmental delay also persisted. A new therapy to overcome neurologic problems should be developed for patients with type 3 GD.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.34-41
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• 2016

Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.