Pompe disease (PD) is an autosomal recessive genetic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It is easy to hastily diagnose as patients if they have two pathogenic variants. Clinical pathologists misdiagnosed our infant and her mother as PD. Here, we report a case of pseudodeficiency in a potential late-onset Pompe disease (LOPD) carrier with a double dual variant, each in cis formation in a 3-month infant. The person who has two pathogenic variants was diagnosed as a carrier, not a patient. It was first reported in Korea. The patient had: two likely pathogenic heterozygous mutations on exon #4: c.752C>T (p.Ser251Leu), c.761C>T (p.Ser254Leu), and a heterozygous mutation on exon #12: c.1726G>A (p.Gly576Ser), also with a heterozygous mutation on exon #15: c.2065G>A (p.Glu689Lys). By presenting this case we emphasize the possibility of cis formation of genes which may cause pseudodeficiency, and potential LOPD carrier form. Hereby we suggest that thorough evaluation of GAA gene is essential among whom initially diagnosed as PD.
Internet commerce has been growing at a rapid pace for the last decade. Many firms try to reach wider consumer markets by adding the Internet channel to the existing traditional channels. Despite the various benefits of the Internet channel, a significant number of firms failed in managing the new type of channel. Previous studies could not cleary explain these conflicting results associated with the Internet channel. One of the major reasons is most of the previous studies conducted analyses under a specific market condition and claimed that as the impact of Internet channel introduction. Therefore, their results are strongly influenced by the specific market settings. However, firms face various market conditions in the real worlddensity and disutility of using the Internet. The purpose of this study is to investigate the impact of various market environments on a firm's optimal channel strategy by employing a flexible game theory model. We capture various market conditions with consumer density and disutility of using the Internet.
The experimental studies were intended to clarify the effects of selection, and also aimed at estimating the heritabilities, the genotypic correlations among some agronomic characters, and at calculating the selection index on some selective characters for the selection of desirable lines, under different climatic conditions. Finally practical implications of these studies, especially on the selection index, were discussed. Twenty-two varieties, determinate growing habit type, were selected at random from the 138 soybean varieties cultivated the year before, were grown in a randomized block design with three replicates at Chinju, Korea, under May and June sowing conditions. The method of estimating heritabilities for the eleven agronomic characters-flowering date, maturity date, stem length, branch numbers per plant, stem diameter, plant weight, pod numbers per plant, grain numbers per plant and 100 grain weight, shown in Table 3, was the variance components procedures in a replicated trial for the varieties. The analysis of covariance was used to obtain the genotypic correlations and phenotypic correlations among the eight characters, and the selection indexes for some agronomic characters were calculated by Robinson's method. The results are summarized as follows: Heritabilities : The experiment on the genotype-environment interaction revealed that in almost all of the characters investigated the interaction was too large to be neglected and materially affected the estimates of various genotypic parameters. The variation in heritability due to the change of environments was larger in the characters of low heritability than in those of high heritability. Heritability values of flowering date, fruiting period (days from flowering to maturity), stem length and 100 grain weight were the highest in both environments, those of yield(grain weight) and other characters were showed the lower values(Table 3). These heritability values showed a decreasing trend with the delayed sowing in the experiments. Further, all calculated heritability values were higher than anticipated. This was expected since these values, which were the broad sense heritability, contain the variance due to dominance and epistasisf in addition to the additive genetic variance. Genotypic correlations : Genotypic correlations were slightly higher than the corresponding phenotypic correlations in both environments, but the variation in values due to the change of environment appeared between grain weight and some other characters, especially an increase between grain weight and flowering date, and the total growing period(Table 6). Genotypic correlations between grain weight and other characters indicated that high seed yield was genetically correlated with late flowering, late maturity, and the other five characters namely branch numbers per plant, stem diameter, plant weight, pod numbers per plant and grain numbers per plant, but not with 100 grain weight of soybeans. Pod numbers and grain numbers per plant were more closely correlated with seed yields than with other characters. Selection index : For the comparison and the use of selection indexes in the selection, two kinds of selection indexes were calculated, the former was called selection index A and the later selection index B as shown in Table 7. Selection index A was calculated by the values of grain weight per plant as the character of yield(character Y), but the other, selection index B, was calculated by the values of pod numbers per plant, instead of grain weight per plant, as the character of yield'(character Y'). These results suggest that selection index technique is useful in soybean breeding. In reality, however, as the selection index varies with population and environment, it must be calculated in each population to which selection is applied and in each environment in which the population is located. In spite of the expected usefulness of selection index technique in soybean breeding, unsolved problems such as the expense, time and labor involved in calculating the selection index remain. For these reasons and from these experimental studies, it was recognized that in the breeding of self-fertilized soybean plants the selection for yield should be based on a more simple selection index such as selection index B of these experiments rather than on the complex selection index such as selection index A. Furthermore, it was realized that the selection index for the selection should be calculated on the basis of the data of some 3-4 agronomic characters-maturity date(X
Extracorporeal life support (ECLS) system is a device for respiratory and/or heart failure treatment, and there have been many trials for development and clinical application in the world. Currently, a non-pulsatile blood pump is a standard for ECLS system. Although a pulsatile blood pump is advantageous in physiologic aspects, high pressure generated in the circuits and resultant blood cell trauma remain major concerns which make one reluctant to use a pulsatile blood pump in artificial lung circuits containing a membrane oxygenator. The study was designed to evaluate the hypothesis that placement of a pressure-relieving compliance chamber between a pulsatile pump and a membrane oxygenator might reduce the above mentioned side effects while providing physiologic pulsatile blood flow. The study was performed in a canine model of oleic acid induced acute lung injury (N=16). The animals were divided into three groups according to the type of pump used and the presence of the compliance chamber, In group 1, a non-pulsatile centrifugal pump was used as a control (n=6). In group 2 (n=4), a single-pulsatile pump was used. In group 3 (n=6), a single-pulsatile pump equipped with a compliance chamber was used. The experimental model was a partial bypass between the right atrium and the aorta at a pump flow of 1.8∼2 L/min for 2 hours. The observed parameters were focused on hemodynamic changes, intra-circuit pressure, laboratory studies for blood profile, and the effect on blood cell trauma. In hemodynamics, the pulsatile group II & III generated higher arterial pulse pressure (47
Background: Acute interstitial pneumonia is a relatively rare form of interstitial pneumonia, since the vast majority of interstitial pneumonia have a more chronic course. It corresponds to the lesion described by Hamman and Rich, as Hamman-Rich disease in 1944. Another name in the clinical literature is accelerated interstitial pneumonia, idiopathic acute respiratory distress syndrome (idiopathic ARDS), and the organizing stage of diffuse alveolar damage. Acute interstitial pneumonia differs from chronic interstitial pneumonia by clinical and pathologic features. Clinically, this disease is characterized by a sudden onset and a rapid course, and reversible disease. Method and Purpose: Five cases of pathologically proven acute interstitial pneumonia were retrospectively studied to define the clinical, radiologic, and pathologic features. Results: 1) The five cases ranged in age from 31 to 77 years old. The onset of illness was acute in all patients, it began with viral-like prodrome 6~40 days prior to shortness of breath, and respiratory failure eventually developed in all patients. In 2 cases, generalized skin rash was accompanied with flu-like symptoms. Etiologic agent could not be identified in any case. 2) All patients had leukocytosis and severe hypoxemia. Pulmonary function test of 3 available cases shows restrictive ventilatory defect, and one survived patient(case 5) has a complete improvement of pulmonary function after dismissal. 3) Diffuse bilateral chest infiltrates were present radiologically. Theses were the ground-glass, consolidation, and reticular densities without honeycomb fibrosis in all patients. The pathologic abnormalities were the presence of increased numbers of macrophages and the formation of hyaline membranes within alveolar spaces. There was also interstitial thickening with edema, proliferation of immature fibroblast, and hyperplasia of type II pneumocyte. In the survived patient(case5), pathologic findings were relatively early stage of acute interstitial pneumonia, such as hyaline membrane with mild interstitial fibrosis. 4) Of the 5 patients, four patients died of respiratory failure 14~90 days after onset of first symptom, and one survived and recovered in symptoms, chest X ray, and pulmonary function test Conclusion: These results emphasize that acute interstitial pneumonia is clinically, radiologically, and pathologically distinct form of interstitial pneumonia and should be separated from the group of chronic interstitial pneumonia. Further studies will be needed to evaluate the pathogenesis and the treatment of acute interstitial pneumonia.
Background: Among the injurious agents to which the lung airspaces are constantly exposed are reactive species of oxygen. It has been widely believed that reactive oxygen species may be implicated in the etiology of lung injuries. In order to elucidated how this oxidant causes lung cell injury, we investigated the effects of exogenous
Background: The Damus-Kaye-Stansel (DKS) procedure is a proximal MPA-ascending aorta anastomosis used to relieve systemic ventricular outflow tract obstructions (SVOTO) and pulmonary hypertension. The purpose of this study was to review the indications and outcomes of the DKS procedure, including the DKS pathway and semilunar valve function. Material and Method: A retrospective review of 28 patients who underwent a DKS procedure between May 1994 and April 2006 was performed. The median age at operation was 5.3 months (
Statement of problem: Recently, there have been increased esthetic needs for posterior dental restorations. The failure of posterior dental ceramic restoration are possible not only by the characters of the component materials but also by the type of food. Purpose: The research aim was to compare the in vitro fracture resistance of simulated first molar crowns fabricated using 4 dental ceramic systems, full-porcelain-occlusal-surfaced PFG, half-porcelain-occlusal-surfaced PFG, Empress 2, Ice Zirkon and selected Korean foods. Material and methods: Eighty axisymmetric crowns of each system were fabricated to fit a preparation with 1.5- to 2.0-mm occlusal reduction. The center of the occlusal surface on each of 15 specimens per ceramic system was axially loaded to fracture in a Instron 4465, and the maximum load(N) was recorded. Afterwards, selected Korean foods specimens(boiled crab, boiled chicken with bone, boiled beef rib, dried squid, dried anchovy, round candy, walnut shell) were prepared. 15 specimens per each food were placed under the Instron and the maximum fracture loads for them were recorded. The 95% confidence intervals of the characteristic failure load were compared between dental ceramic systems and Korean foods. Afterwards, on the basis of previous results, 14Hz cyclic load was applied on the 4 systems of dental ceramic restorations in MTS. The reults were analyzed by analysis of variance and Post Hoc tests. Results: 95% confidence intervals for mean of fracture load 1. full porcelain occlusal surfaced PFG Crown: 2599.3 to 2809.1 N 2. half porcelain occlusal surfaced PFG Crown: 3689.4 to 3819.8 N 3. Ice Zirkon Crown: 1501.2 to 1867.9 N 4. Empress 2 Crown: 803.2 to 1188.5 N 5. boiled crab: 294.1 to 367.9 N 6. boiled chicken with bone: 357.1 to 408.6 N 7. boiled beef rib: 4077.7 to 4356.0 N 8. dried squid: 147.5 to 190.5 N 9. dried anchovy: 35.6 to 46.5 N 10. round candy: 1900.5 to 2615.8 N 11. walnut shell: 85.7 to 373.1 N under cyclic load(14Hz) in MTS, fracture load and masticatory cycles are: 1. full porcelain occlusal surfaced PFG Crown fractured at 95% confidence intervals of 4796.8-9321.2 cycles under 2224.8 N(round candy)load, no fracture under smaller loads. 2. half porcelain occlusal surfaced PFG Crown fractured at 95% confidence intervals of 881705.1-1143565.7 cycles under 2224.8 N(round candy). no fracture under smaller loads. 3. Ice Zirkon Crown fractured at 95% confidence intervlas of 979993.0-1145773.4 cycles under 382.9 N(boiled chicken with bone). no fracture under smaller loads. 4. Empress 2 Crown fractured at 95% confidence intervals of 564.1-954.7 cycles under 382.9 N(boiled chicken with bone). no fracture under smaller loads. Conclusion: There was a significant difference in fracture resistance between experimental groups. Under single load, Korean foods than can cause fracture to the dental ceramic restorations are boiled beef rib and round candy. Even if there is no fracture under single load, cyclic dynamic load can fracture dental posterior ceramic crowns. Experimental data with 14 Hz dynamic cyclic load are obtained as follows. 1. PFG crown(full porcelain occlusion) was failed after mean 0.03 years under fracture load for round candy(2224.8 N). 2. PFG crown(half porcelain occlusion) was failed after mean 4.1 years under fracture load for round candy(2224.8 N). 3. Ice Zirkon crown was failed after mean 4.3 years under fracture load for boiled chicken with bone(382.9 N). 4. Empress 2 crown was failed after mean 0.003 years under fracture load for boiled chicken with bone(382.9 N).
Background : Bronchial sleeve resection for centrally located primary lung cancer is a lung-parenchyma-sparing operation in patients whose predicted postoperative lung function is expected to diminished markedly. Because of its potential bronchial anastomotic complications, it is considered to be an alternative to pneumonectomy. However, since sleeve lobectomy yielded survival results equal to at least those of pneumonectomy, as well as better functional results, it became and accepted standard procedure for patients with lung cancer who have anatomically suitable tumors, regardless of lung function. In this study, from analyzing of occurrence rate of postoperative complication and survival rate, we wish to investigate the validity of sleeve resection for primary lung cancer. Material and Method : From January 1989 to December 1998, 45 bronchial sleeve resections were carried out in the Department of Thoracic Surgery of Seoul National University Hospital. We included 40 men and 5 women, whose ages ranged from 23 to 72 years with mean age of 57 years. Histologic type was squamous cell carcinoma in 35 patients, adenocarcinoma in 7, and adenosquamous cell carcinoma in 1 patients. Right upper lobectomy was peformed in 24 patients, left upper lobectomy in 11, left lower lobectomy in 3, right lower lobectomy in 1, right middle lobecomy and right lower lobectomy in 3, right upper lobectomy and right middle lobecomy in 2, and left pneumonectomy in 1 patient. Postoperative stage was Ib in 11, IIa in 3, IIb in 16, IIIa in 13, and IIIb in 2 patients. Result: Postoperative complications were as follows; atelectasis in 9, persistent air leakage for more than 7 days was in 7 patients, prolonged pleural effusion for more than 2 weeks in 7, pneumonia in 2, chylothorax in 1, and disruption of anastomosis in 1. Hospital mortality was in 3 patients. During follow-up period, bronchial stricture at anastomotic site were found in 7 patients under bronchoscopy, Average follow-up duration of survivals(n=42) was 35.5
Purpose : The major goal of the therapy in the soft tissue sarcoma is to control both local and distant tumor. However, the technique of obtaining local control has changed significantly over the past few decades from more aggressive surgery to combined therapy including conservative surgery and radiation and/or chemotherapy. We retrospectively analyzed the treatment results of the postoperative radiation therapy of soft tissue sarcoma and its prognostic factor. Materials and Methods : Between March 1983 and June 1994, 50 patients with soft tissue sarcoma were treated with surgery and postoperative radiation therapy at Kang-Nam St. Mary's hospital. Complete follow up was possible for all patients with median follow up duration 50 months (range 6-162 months). There were 28 male and 32 female patients. Their age ranged from 6 to 83 with a median of 44 years. Extremity (58 shows the channel structures analyzed in this study. Before the Internet channel is introduced, a monopoly manufacturer sells its products through an independent physical store. From this structure, the manufacturer could introduce its own Internet channel (MI). The independent physical store could also introduce its own Internet channel and coordinate it with the existing physical store (RI). An independent Internet retailer such as Amazon could enter this market (II). In this case, two types of independent retailers compete with each other. In this model, consumers are uniformly distributed on the two dimensional space. Consumer heterogeneity is captured by a consumer's geographical location (ci) and his disutility of using the Internet channel ( shows various market conditions captured by the two consumer heterogeneities. (a) illustrates a market with symmetric consumer distributions. The model captures explicitly the asymmetric distributions of consumer disutility in a market as well. In a market like that is represented in (c), the average consumer disutility of using an Internet store is relatively smaller than that of using a physical store. For example, this case represents the market in which 1) the product is suitable for Internet transactions (e.g., books) or 2) the level of E-Commerce readiness is high such as in Denmark or Finland. On the other hand, the average consumer disutility when using an Internet store is relatively greater than that of using a physical store in a market like summarizes the various scenarios of consumer distributions analyzed in this study. The range for disutility of using the Internet (
summarizes the analysis results. As the average travel cost in a market decreases while the average disutility of Internet use remains the same, average retail price, total quantity sold, physical store profit, monopoly manufacturer profit, and thus, total channel profit increase. On the other hand, the quantity sold through the Internet and the profit of the Internet store decrease with a decreasing average travel cost relative to the average disutility of Internet use. We find that a channel that has an advantage over the other kind of channel serves a larger portion of the market. In a market with a high average travel cost, in which the Internet store has a relative advantage over the physical store, for example, the Internet store becomes a mass-retailer serving a larger portion of the market. This result implies that the Internet becomes a more significant distribution channel in those markets characterized by greater geographical dispersion of buyers, or as consumers become more proficient in Internet usage. The results indicate that the degree of price discrimination also varies depending on the distribution of consumer disutility in a market. The manufacturer in a market in which the average travel cost is higher than the average disutility of using the Internet has a stronger incentive for price discrimination than the manufacturer in a market where the average travel cost is relatively lower. We also find that the manufacturer has a stronger incentive to maintain a high price level when the average travel cost in a market is relatively low. Additionally, the retail competition effect due to Internet channel introduction strengthens as average travel cost in a market decreases. This result indicates that a manufacturer's channel power relative to that of the independent physical retailer becomes stronger with a decreasing average travel cost. This implication is counter-intuitive, because it is widely believed that the negative impact of Internet channel introduction on a competing physical retailer is more significant in a market like Russia, where consumers are more geographically dispersed, than in a market like Hong Kong, that has a condensed geographic distribution of consumers.
Studies on the selection in soybean breeding. -II. Additional data on heritability, genotypic correlation and selection index-
(대두육종에 있어서의 선발에 관한 실험적연구 -속보 : 유전력ㆍ유전상관, 그리고 선발지수의 재검토-)
Application of a Single-pulsatile Extracorporeal Life Support System for Extracorporeal Membrane Oxygenation -An experimental study -
(단일 박동형 생명구조장치의 인공폐 적용 -실험연구-)
Clinicopathologic features of Acute Interstitial Pneumonia
(급성 간질성 폐렴의 임상적 고찰)
Effect of
The Clinical Application and Results of Palliative Damus-Kaye-Stansel Procedure
(고식적 Damus-Kaye-Stansel 술식의 임상적 적용 및 결과)
A comparative study on the correlation between Korean foods and the fractures of PFG and all ceramic crowns for posterior applications
(구치용 도재소부금관과 전부도재관에 파절을 일으키는 한국음식에 관한 연구)
Long Term Results of Bronchial Sleeve Resection for Primary Lung Cancer
(원발성 폐암 환자에서의 기관지 소매 절제술의 장기 성적)
Postoperative Radiation Therapy in the Soft-tissue Sarcoma
(연부 조직 육종의 수술 후 방사선 치료 결과)
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