A Case of Urologic Manifestation of IARS2-associated Leigh Syndrome (IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례)
-
- Journal of The Korean Society of Inherited Metabolic disease
- /
- v.23 no.1
- /
- pp.25-30
- /
- 2023
Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.
This study is to empirically examine the primary dimensions of visual merchandising (VMD) of internet shopping mall, namely store design, merchandise, and merchandising cues, to be a attractive virtual store to the shoppers. The authors reviewed the literature related to the major components of VMD from the perspective of the AIDA model, which has been mainly applied to the offline store settings. The major purposes of the study are as follows; first, tries to derive the variables related with the components of visual merchandising through reviewing the existing literatures, establish the hypotheses, and test it empirically. Second, examines the relationships between the components of VMD and the attitude toward the VMD, however, putting more emphasis on finding out the component structure of the VMD. VMD needs to be examined with the perspective that an online shopping mall is a virtual self-service or clerkless store, which could reduce the number of employees, help the shoppers search, evaluate and purchase for themselves, and to be explored in terms of the in-store persuasion processes of customers. This study reviewed the literatures related to store design, merchandise, and merchandising cues which might be relevant to the store, product, and promotion respectively. VMD is a total communication tool, and AIDA model could explain the in-store consumer behavior of online shopping. Store design has to do with triggering a consumer attention to the online mall, merchandise with a product related interest, and merchandising cues with promotions such as recommendation and links that induce the desire to pruchase. These three steps might be seen as the processes for purchase actions. The theoretical rationale for the relationship between VMD and AIDA could be found in Tyagi(2005) that the three steps of consumer-oriented merchandising are a store, a product assortment, and placement, in Omar(1999) that three types of interior display are a architectural design display, commodity display, and point-of-sales(POS) display, and in Davies and Ward(2005) that the retail store interior image is related to an atmosphere, merchandise, and in-store promotion. Lee et al(2000) suggested as the web merchandising components a merchandising cues, a shopping metaphor which is an assistant tool for search, a store design, a layout(web design), and a product assortment. The store design which includes differentiation, simplicity and navigation is supposed to be related to the attention to the virtual store. Second, the merchandise dimensions comprising product assortments, visual information and product reputation have to do with the interest in the product offerings. Finally, the merchandising cues that refer to merchandiser(MD)'s recommendation of products and providing the hyperlinks to relevant goods for the shopper is concerned with attempt to induce the desire to purchase. The questionnaire survey was carried out to collect the data about the consumers who would shop at internet shopping malls frequently. To select the subject malls, the mall ranking data announced by a mall rating agency was used to differentiate the most popular and least popular five mall each. The subjects was instructed to answer the questions after navigating the designated mall for five minutes. The 300 questionnaire was distributed to the consumers, 166 samples were used in the final analysis. The empirical testing focused on identifying and confirming the dimensionality of VMD and its subdimensions using a structural equation modeling method. The confirmatory factor analysis for the endogeneous and exogeneous variables was carried out in four parts. The second-order factor analysis was done for a store design, a merchandise, and a merchandising cues, and first-order confirmatory factor analysis for the attitude toward the VMD. The model test results shows that the chi-square value of structural equation is 144.39(d.f 49), significant at 0.01 level which means the proposed model was rejected. But, judging from the ratio of chi-square value vs. degree of freedom, the ratio was 2.94 which smaller than an acceptable level of 3.0, RMR is 0.087 which is higher than a generally acceptable level of 0.08. GFI and AGFI is turned out to be 0.90 and 0.84 respectively. Both NFI and NNFI is 0.94, and CFI 0.95. The major test results are as follows; first, the second-order factor analysis and structural equational modeling reveals that the differentiation, simplicity and ease of identifying current status of the transaction are confirmed to be subdimensions of store design and to be a significant predictors of the dependent variable. This result implies that when designing an online shopping mall, it is necessary to differentiate visually from other malls to improve the effectiveness of the communications of store design. That is, the differentiated store design raise the contrast stimulus to sensory organs to promote the memory of the store and to have a favorable attitude toward the VMD of a store. The results that navigation which means the easiness of identifying current status of shopping affects the attitude to VMD could be interpreted that the navigating processes via the hyperlinks which is characteristics of an internet shopping is a complex and cognitive process and shoppers are likely to lack the sense of overall structure of the store. Consequently, shoppers are likely to be alost amid shopping not knowing where to go. The orientation tool enhance the accessibility of information to raise the perceptive power about the store environment.(Titus & Everett 1995) Second, the primary dimension of merchandise and its subdimensions was confirmed to be unidimensional respectively, have a construct validity, and nomological validity which the VMD dimensions supposed to have a positive correlation with the dependent variable. The subdimensions of product assortment, brand fame and information provision proved to have a positive effect on the attitude toward the VMD. It could be interpreted that the more plentiful the product and brand assortment of the mall is, the more likely the shoppers to favor it. Brand fame and information provision as well affect the VMD attitude, which means that the more famous the brand, the more likely the shoppers would trust and feel familiar with the mall, and the plentifully and visually presented information could have the shopper have a favorable attitude toward the store VMD. Third, it turned out to be that merchandising cue of product recommendation and hyperlinks affect the VMD attitude. This could be interpreted that recommended products could reduce the uncertainty related with the purchase decision, and the hyperlinks to relevant products would help the shopper save the cognitive effort exerted into the information search and gathering, which could lead to a favorable attitude to the VMD. This study tried to sheds some new light on the VMD of online store by reviewing the variables mentioned to be relevant with offline VMD in the existing literatures, and tried to link the VMD components from the perspective of AIDA model. The effect size of the VMD dimensions on the attitude was in the order of the merchandise, the store design and the merchandising cues.It is said that an internet has an unlimited place for display, however, the virtual store is not unlimited since the consumer has a limited amount of cognitive ability to process the external information and internal memory. Particularly, the shoppers are likely to face some difficulties in decision making on account of too many alternative and information overloads. Therefore, the internet shopping mall manager should take into consideration the cost of information search on the part of the consumer, to establish the optimal product placements and search routes. An efficient store composition would be possible by reducing the psychological burdens and cognitive efforts exerted to information search and alternatives evaluation. The store image is in most part determined by the product category and its brand it deals in. The results of this study support this proposition that the merchandise is most important to the VMD attitude than other components, the manager is required to take a strategic approach to VMD. The internet users are getting more accustomed and more knowledgeable about the internet media and more likely to accept the internet as a shopping channel as the period of time during which they use the internet to shop become longer. The web merchandiser should be aware that the product introduction using a moving pictures and a bulletin board become more important in order to present the interactive product information visually and communicate with customers more actively, therefore leading to making the quantity and quality of product information more rich.
This study was carried out to investigate the influences of modified starches on suppression of retrogradation in Korean rice cake for their optimization, Garaeduk. Based upon studying Avrami equation, the Avrami exponent n value of all the experiment samples was found to be 1.03
This study was intended to analyze the correlation between the builder's intentions and the colors that are revealed through the analysis of the manifestation of symbolic colors as the signs and symbols that are shown in the traditional space of Soshaewon as one of the representative retreating villa gardens of Chosun Dynasty and the interpretation of the meanings. The research on the traditional colors and the intended background of Soshaewon and so on was conducted by examining the relative literature and the contents as the objects for the empirical analysis were the scenic beauties and spatial elemnts that are shown in the plan of Soshewon and the poems about Soshewon 48 scenes as well as the contents of the poems related to Five Primary Colors that are used based on "the Ideology of Five Elements of the Positive and Negative". Espectially, this study was conducted by dividing the spatial elements shown in Soswaewon broadly into the visual, synesthetic and symbolic & cognitive spaces in order to classify the locations and directions of the spaces and natural objects as the visual space, the seasons, the points of times and the five sensory organs as the synesthetic space and the "Four Moral Begginings" & the "Seven Emotions" of New Confucianism as the symbolic and cognitive space and by analyzing if there are any correlation between the decided intentions and the spatial meanings that are revealed by analyzing the system of five primary colors which are used in each spatial element.7) As a result from the analysis of the colors that are used based on the three spatial components of Soshaewon, it was found that one of Five Primary Colors were used 74 times in total. First, in the visual spatial component, one of the colors was used 18 times in total including 2 times of blue, 1 time of red, 6 times of yellow, 4 times of white and 5 times of black. The fact that yellow symbolizing the source of everything and white symoblizing cleanness and pureness are used relatively more often than blue and red symbolizing nature and life respectively can be interpreted that the builder, Mr. San-bo Yang's intention to build Soshaewon is related to the meaning symbolizing the pure will of the builder who wanted to seclude himself from society rather than to give priority to enjoying nature. Second, in the synesthetic spatial component which are selected from the 48 scenes of Soshaewon, one of Five Primary Colors was used 38 times in total including 11 times of blue, 8 times of red, 4 times of yellow, 5 times of white and 10 times of black. Since blue and red symbolizing nature and life respectively are used more often than yellow and black symbolizing the source of the world and pureness & knowledge respectively, it was interpreted that the builder means to be faithful to the unique basic functions of the retreating villa with which the builder wanted to enjoy his passion for enjoying nature and exploring knowledge even though the builder built the villa garden for the purpose of keeping himself pure while being unstained by the world. Finally, it was analyzed that one of Five Primary Colors was used 18 times in total including 4 times of blue, 5 times of red and 9 times of white in the symbolic and cognitive spatial components of the 48 scenes. Since it was found that white symbolizing the builder's political pureness is used at the same frequency as blue and red symbolizing nature and life respectively are used as a result from the analysis, it was interpreted that the intention of creating Soshaewon was emotionally revealed at the same percentage in the aspects of his political pureness and enjoyment of nature through his poems. Especially, as a result from such 3 kinds of analyses regarding to the frequency of using Five Primary Colors, it was found that the number of times using Five Primary Colors in the synesthetic spatial component was 38 as the highest percentage, around 51% followed by each 18 times as the24.5% respectively in the visual and cognitive & symbolic spatial spaces. Based on such results, it can be interpreted that the builder, Mr. San-bo Yang's intention of creating Soshaewon sympolizes that his intention for enjoying the basic nature and the vitality of nature within the retreating villa garden is hidden at the same proportion as his intention for keeping himself pure from the unrightful world. It was intended to reveal the traditional colors which are hidden in a traditional retreating villa by analyzing the correlation between the symbolic meanings and the spatial components of Soshaewon based on the Five Primary Colors which are originated from the "Ideology of the Five Natural Elements of the Positive and Negative", but it is thought that it is possible to explore whether such a theory can be generally applied to other kinds of retreating villa gardens or not through a study on other retreating villa gardens as other examples in which the builder's apparent pure intentions, such as enjoyment of nature and persuit of study, etc., unlike Soshaewon are hidden.
Objectives : The present study was performed to investigate whether acupuncture stimulation in the rats affected regeneration properties of the injured sciatic nerve. A differential effect of acupuncture stimulation on the one point near the spinal nerve root controlling sciatic nerve activity and the other point in the peripheral area subordinated by injured nerve was compared. Materials and Methods: Rat sciatic nerves were injured by crush, and the effects on axonal regeneration on injured sciatic nerves were evaluated by acupuncture stimulation at two different regions. In proximal acupuncture stimulation group, acupuncture stimulation was performed on Huatuo Jiaji(EX B2) points located from L5 to S1 vertebral levels to stimulate the nearest spinal nerve root that innervates sciatic nerves. In distal acupuncture stimulation group, acupuncture stimulation was performed on Zusanli(ST 36) and Weizhong(BL 40) points to stimulate at peripheral area dominated by injured sciatic nerves. Acupuncture stimulation was given every other days for 1 or 2 weeks. Sciatic nerve tissues collected from acupuncture stimulation experimental groups, injury control group, and intact animal group were used for protein analysis by Western blotting or Hoechst nuclear staining. To determine axonal regeneration, Dil fluorescence dye was injected into the sciatic nerve 0.5 cm distal to the injury site in individual animal groups and Dil-labeled cells by retrograde tracing were measured in the DRG at lumbar 5 or in the spinal cord. DRG sensory neurons prepared from individual animal groups were used to measure the extent of neurite outgrowth and for immunofluorescence staining with anti-GAP-43 antibody. Results : Animal groups given proximal or distal acupuncture stimulation showed upregulation of GAP-43 and Cdc2 protein levels in the sciatic nerve at 7 days after injury. Cdk2 protein levels were strongly induced by nerve injury, but did not show changes by acupuncture stimulation. Phospho-Erk1/2 protein levels were elevated by acupuncture stimulation above those present in the injury control animals. These increase in regeneration-associated protein levels appeared to be related with increase cell proliferation in the injured sciatic nerves. Hoechst 33258 staining of sciatic nerve tissue to visualize nuclei of individual cells showed increased Schwann cell number in the distal portion of the injured nerve 7 and 14 days after injury and further increases by acupuncture stimulation particularly at the proximal position. Measurement of axonal regeneration by retrograde tracing showed significantly increased Dil-labeled cells in proximal acupuncture stimulation group compared to distal acupuncture stimulation group and injury control group. Finally, an evaluation of axonal regeneration by retrograde tracing showed increased number of Dil labeled cells in the DRG at lumbar 5 or in the ventral horn of the spinal cord at lower thoracic level at 7 days after nerve injury. Conclusions : The present data show that the proximal acupuncture stimulation at Huatuo Jiaji(EX B2) points governing injured sciatic nerves was more effective for axonal regeneration than the distal acupuncture stimulation. Further studies on functional recovery or associated molecular mechanisms should be critical for developing animal models and clinical applications.
The wall shear stress in the vicinity of end-to end anastomoses under steady flow conditions was measured using a flush-mounted hot-film anemometer(FMHFA) probe. The experimental measurements were in good agreement with numerical results except in flow with low Reynolds numbers. The wall shear stress increased proximal to the anastomosis in flow from the Penrose tubing (simulating an artery) to the PTFE: graft. In flow from the PTFE graft to the Penrose tubing, low wall shear stress was observed distal to the anastomosis. Abnormal distributions of wall shear stress in the vicinity of the anastomosis, resulting from the compliance mismatch between the graft and the host artery, might be an important factor of ANFH formation and the graft failure. The present study suggests a correlation between regions of the low wall shear stress and the development of anastomotic neointimal fibrous hyperplasia(ANPH) in end-to-end anastomoses. 30523 T00401030523 ^x Air pressure decay(APD) rate and ultrafiltration rate(UFR) tests were performed on new and saline rinsed dialyzers as well as those roused in patients several times. C-DAK 4000 (Cordis Dow) and CF IS-11 (Baxter Travenol) reused dialyzers obtained from the dialysis clinic were used in the present study. The new dialyzers exhibited a relatively flat APD, whereas saline rinsed and reused dialyzers showed considerable amount of decay. C-DAH dialyzers had a larger APD(11.70