Age-Based Characteristics of West Syndrome in Patients with Mitochondrial Disease (미토콘드리아 질환에서 웨스트 증후군 환자의 경련 발생 연령에 따른 임상 양상 비교)
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- Journal of the Korean Child Neurology Society
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- v.26 no.4
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- pp.197-204
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- 2018
Purpose: West syndrome is a severe form of age-specific epilepsy that typically affects infants younger than 2 years of age with mitochondrial disease. We aimed to examine age-specific characteristics of the syndrome in these patients. Methods: We retrospectively analyzed 54 patients with West syndrome diagnosed with mitochondrial disease between March 2006 and March 2016. We compared treatment strategies and diagnostic and clinical variables between patients with early-onset (<6 months of age) and late-onset (
Purpose : Proton Therapy using Bragg-peak, because it has distinct characteristics in providing maximum dosage for tumor and minimal dosage for normal tissue, a medical imaging system that can quantify changes in patient position or treatment area is of paramount importance to the treatment of protons. The purpose of this research is to evaluate the usefulness of the algorithm by comparing the image matching through the set-up and in-house code through the existing dips program by producing a Matlab-based in-house registration code to determine the error value between dips and DRR to evaluate the accuracy of the existing treatment. Materials and Methods : Thirteen patients with brain tumors and head and neck cancer who received proton therapy were included in this study and used the DIPS Program System (Version 2.4.3, IBA, Belgium) for image comparison and the Eclipse Proton Planning System (Version 13.7, Varian, USA) for patient treatment planning. For Validation of the Registration method, a test image was artificially rotated and moved to match the existing image, and the initial set up image of DIPS program of existing set up process was image-matched with plan DRR, and the error value was obtained, and the usefulness of the algorithm was evaluated. Results : When the test image was moved 0.5, 1, and 10 cm in the left and right directions, the average error was 0.018 cm. When the test image was rotated counterclockwise by 1 and
The subventricular zone (SVZ) in the brain contains neural stem cells (NSCs) that generate new neurons throughout one's lifetime. Many extracellular and intracellular factors that affect cell proliferation and neuronal differentiation of NSCs are already well-known. Recently, L-type calcium channels have been reported to regulate neural development and are present in NSCs, differentiating neuroblasts, and mature neurons in the SVZ. Nifedipine, a blocker of L-type calcium channels, has been long used as a therapeutic drug for hypertension. However, studies on the use of nifedipine to inhibit L-type calcium channels of NSCs are lacking. Herein, we treated NSCs cultured from mouse postnatal SVZ with nifedipine during neuronal differentiation. Nifedipine increased the number of Tuj1-positive neurons but did not significantly change the number of Olig2-positive oligodendrocytes. Nifedipine increased cell division during early differentiation, which was detected using the 5-ethynyl-2'-deoxyuridine incorporation assay and immunocytochemistry assessment by staining the cells with phosphorylated histone H3, a mitosis marker. Nifedipine increased the transcription of Dlx2, a neurogenic transcription factor, and the level of Mash1, a marker for early neurogenesis. In addition to nifedipine, verapamil, which is also an L-type calcium channel blocker, showed a slight increase in neurogenesis, but its statistical significance was very low. In contrast, pimozide, a T-type calcium channel blocker, did not affect neurogenesis, although T-type calcium channel genes Cav3.1, Cav3.2, and Cav3.3 were expressed. In summary, nifedipine might promote the neuronal fate of NSCs during early differentiation and calcium signaling through L-type calcium channels might be involved in neuronal differentiation, especially during the early stages of differentiation.
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.
With the development of the web, two-way communication and evaluation became possible and marketing paradigms shifted. In order to meet the needs of consumers, web design trends are continuously responding to consumer feedback. As the web becomes more and more important, both academics and businesses are studying consumer emotions and satisfaction on the web. However, some consumer characteristics are not well considered. Demographic characteristics such as age and sex have been studied extensively, but few studies consider psychological characteristics such as regulatory focus (i.e., emotional regulation). In this study, we analyze the effect of web style on consumer emotion. Many studies analyze the relationship between the web and regulatory focus, but most concentrate on the purpose of web use, particularly motivation and information search, rather than on web style and design. The web communicates with users through visual elements. Because the human brain is influenced by all five senses, both design factors and emotional responses are important in the web environment. Therefore, in this study, we examine the relationship between consumer emotion and satisfaction and web style and design. Previous studies have considered the effects of web layout, structure, and color on emotions. In this study, however, we excluded these web components, in contrast to earlier studies, and analyzed the relationship between consumer satisfaction and emotional indexes of web-style only. To perform this analysis, we collected consumer surveys presenting 40 web style themes to 204 consumers. Each consumer evaluated four themes. The emotional adjectives evaluated by consumers were composed of 18 contrast pairs, and the upper emotional indexes were extracted through factor analysis. The emotional indexes were 'softness,' 'modernity,' 'clearness,' and 'jam.' Hypotheses were established based on the assumption that emotional indexes have different effects on consumer satisfaction. After the analysis, hypotheses 1, 2, and 3 were accepted and hypothesis 4 was rejected. While hypothesis 4 was rejected, its effect on consumer satisfaction was negative, not positive. This means that emotional indexes such as 'softness,' 'modernity,' and 'clearness' have a positive effect on consumer satisfaction. In other words, consumers prefer emotions that are soft, emotional, natural, rounded, dynamic, modern, elaborate, unique, bright, pure, and clear. 'Jam' has a negative effect on consumer satisfaction. It means, consumer prefer the emotion which is empty, plain, and simple. Regulatory focus shows differences in motivation and propensity in various domains. It is important to consider organizational behavior and decision making according to the regulatory focus tendency, and it affects not only political, cultural, ethical judgments and behavior but also broad psychological problems. Regulatory focus also differs from emotional response. Promotion focus responds more strongly to positive emotional responses. On the other hand, prevention focus has a strong response to negative emotions. Web style is a type of service, and consumer satisfaction is affected not only by cognitive evaluation but also by emotion. This emotional response depends on whether the consumer will benefit or harm himself. Therefore, it is necessary to confirm the difference of the consumer's emotional response according to the regulatory focus which is one of the characteristics and viewpoint of the consumers about the web style. After MMR analysis result, hypothesis 5.3 was accepted, and hypothesis 5.4 was rejected. But hypothesis 5.4 supported in the opposite direction to the hypothesis. After validation, we confirmed the mechanism of emotional response according to the tendency of regulatory focus. Using the results, we developed the structure of web-style recommendation system and recommend methods through regulatory focus. We classified the regulatory focus group in to three categories that promotion, grey, prevention. Then, we suggest web-style recommend method along the group. If we further develop this study, we expect that the existing regulatory focus theory can be extended not only to the motivational part but also to the emotional behavioral response according to the regulatory focus tendency. Moreover, we believe that it is possible to recommend web-style according to regulatory focus and emotional desire which consumers most prefer.
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
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
Purpose: Patients' movement during long image acquisition time for the fusion image of PET-CT (Positron Emission Tomography-Computed Tomography) results in unconformity, and greatly affects the quality of the image and diagnosis. The arm support fixtures provided by medical device companies are not manufactured considering the convenience and safety of the patients; the arm and head movements (horizontal and vertical) during PET/CT scan cause defects in the brain fundus images and often require retaking. Therefore, this study aims to develop patient-compensation device that would minimize the head and arm movements during PET/CT scan, providing comfort and safety, and to reduce retaking. Materials and Methods: From June to July 2012, 20 patients who had no movement-related problems and another 20 patients who had difficulties in raising arms due to shoulder pain were recruited among the ones who visited nuclear medicine department for PET Torso scan. By using Patient Holding System (PHS), different range of motion (ROM) in the arm (
Purpose: The granulocytic sarcoma which developed in leukemic patients are quite rare and it will have bad prognosis, but it's tumor pathogenesis and also their treatment are not yet established. Through this study we have tried to know their clinical course, prognosis and their end result of recent treatment. Material and Methods: Total 20 patients of granulocytic sarcoma which were developed in total 2,197 leukemic patients from April, 1998 to September, 2004 were treated at the leukemic center and the orthopaedic department of St. Mary's hospital, Catholic University of Korea, and followed them for 1~78 months(average 18 months). Results: Total 20 cases of granulocytic sarcoma was found in 14 cases of total 1,331 acute myelocytic leukemic patients(AML), 4 cases of total 744 of chronic myelocytic leukemic patients(CML), and only one case in total 122 of acute biphenotype of leukemia. And so their occurrence rate in leukmic patients are actually 0.91%, total 20 cases of granulocytic sarcoma in total 2,197 leukemic patients at same period. Their ages are average 28.3 years(4~52 years), and male are predominant(13 cases) than female(7 cases). Single involvement was found in 11 cases but multiple lesions are in 9 cases, and spine, brain, extremities, chest, and pelvic bone are involved in frequency. The granulocytic sarcoma was developed in various stages of the leukemia, ie, 8 cases in complete remission of leukemia, and 12 cases in the treatment process of AML. The pathohistologic evaluation of granulocytic sarcoma was done in 6 cases which was developed in their extremities, and confirmed numerous immature myeloblasts and lymphocytes mixed. The treatment of these granulocytic sarcoma was mainly limited for the treatment of leukemia by Glivac and massive steroid therapy(19cases) and also combined with the bone marrow transplantation(13 cases), but radiation therapy with average 3,500 rads in 15 cases out of total 20 sarcomas was also done, and followed them for average 17.5 months after development of granulocytic sarcomas. Finally their prognosis was so bad that 12 patients(60%) out of total 20 granulocytic sarcoma were dead in 6.5 months after sarcoma developed and we found the granulocytic sarcoma was more fatal if they are developed during the process of CML(mortality: 100%(4/4cases). Conclusion: The prognosis of granulocytic sarcomas in leukemic patients are quite fatal, and much more studies for their pathogenesis and ways of treatment should be performed continuously.
A neurotoxin, 6-hydroxydopamine (6-OHDA) has been widely used to create animal model for Parkinson's disease (PD) due to its specific toxicity against dopaminergic (DA) neurons. Since DA signals modulate a broad spectrum of CNS physiology, one can expect profound alterations in neuroendocrine activities of both PD patients and 6-OHDA treated animals. Limited applications of 6-OHDA injection model, however, have been made on the studies of hypothalamuspituitary neuroendocrine circuits. The present study was performed to examine whether blockade of brain catecholamine (CA) biosynthesis with 6-OHDA can make any alteration in the transcriptional activities of hypothalamus-pituitary hormone genes in adult male rats. Three-month-old male rats (SD strain) were received 6-OHDA (