Molecular Genetic Analysis in Dystroglycanopathy with the Fukuyama Congenital Muscular Dystrophy Phenotype (Fukuyama 선천성 근이영양증에서의 분자유전학적 분석)
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- Journal of The Korean Society of Inherited Metabolic disease
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- v.17 no.2
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- pp.48-54
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- 2017
Purpose: Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal-recessive disorder characterized by early-onset hypotonia associated with brain malformations in dystroglycanopathy. Although the wide spectrum of congenital muscular dystrophies causes difficulty in diagnosis, correlating the genotype with the clinical phenotype can help diagnose FCMD. Here, we evaluated the correlation of targeted molecular genetic analysis of FKTN gene mutation with the FCMD phenotype. Methods: This study was conducted retrospectively with 9 subjects. Inclusion criteria included clinical symptoms characterized by early-onset hypotonia with magnetic resonance imaging (MRI) featuring brain malformations. FKTN gene-alteration analysis was performed using various FKTN gene-analysis methods, including sequencing. Results: Among the 9 subjects studied, 4 (44.4%) were male and 5 (55.6%) were female. The median age of onset of the first symptom was 3.1 months. The first symptom was a delayed milestone in 6 cases (66.7%). All 9 subjects (100%) presented with early-onset hypotonia and global delayed development. All subjects presented with cortical malformation in their brain MRIs. Of the 9 subjects, 6 subjects had previously undergone muscle biopsy and 4 cases (4/6; 66.7%) showed dystrophic or myopathic features. Pathogenic mutations causing FCMD were identified in 3 cases. Conclusions: In this study, all 3 subjects with FKTN mutations showed important MRI findings (pachygyria and cerebellar dysplasia). These data suggest that patients with characteristic phenotypes who show pachygyria and cerebellar abnormalities in brain MRIs may have a high probability of being diagnosed with FCMD.
This study concerns itself with the development of a new model of comprehensive health service for rural communities of Korea. The study was conceived to resolve the problems of both underservice in rural communities and underutilization of valuable health manpower, namely the nurses, the disenchanted elite health personnel in Korea. On review of the current situation, the greatest deficiencies in the Korean health care system were found in the availability of primary care at the peripheries of md communities, in the dissemination of knowledge of disease prevention and health care, and in the induction of and guidance for active participation by the clientele in health maintenance at the personal, family and community level Abundant untapped health resources were identified that could be brough to bear upon the national effort to extend health services to every member of the Korean Population. Therefore, it was Postulated that the problem of underservice in rural communities of Korea can be structurcturally resolved by the effective mobilization and organization of untapped health resources, and that. a primary care Nursing Service System offers the best possibility for fulfillment of rural health service goals within the current health man-power situation. In order to identify appropriate strategies to combat the present difficulties in Korean rural health services and to utilize nurses and other health personnel in community-centered health programs, a search was made for examples of innovative service models throughout the world. An extensive literature survey and field visits to project sites both in Korea and in the United States were made. Experts in the field of world health, health service, planners, administrators, and medical and nursing practitioners in Korea, in the United States as well as visitors from other Asian countries were widely consulted. On the basis of information and inputs from these experts a new rural health service model has been constructed within the conceptual framework of community development, especially of the innovation diffusion Model. It is considered especially important that citizens in each community develop capacities for self-care with assistance and supports from available health professionals and participate in health service-related decisions that affect their own well-being. The proposed model is based upon the regionalization of health care planning utilizing a comprehensive Nursing Service System at the immediate delivery level The model features: (1) a health administration unit at each administrative level; (2) mechanisms for community participation; (3) a continuous source of primary health care at the local community level; (4) relative centralization of specialty care and provision of tertiary or super-specialty care only at major national metropolitan centers; and (5) a system for patient referral to the appropriate level of care. This model has been built around professional nurses as the key community health workers because their training is particularly suited and because large numbers of well-trained nurses are currently available and being trained. The special element in this model is a professional nurse-guided, self-care facilitating primary care Community Nursing Service System. This is supported by a Nursing Extension Service as a new training and support structure. (See attached diagrams). A broad spectrum of programs was proposed for the Community Nursing Service System. These were designed to establish a balance of activities between the clinic-centered individual care component and the field activity-centered educational and supportive component of health care services. Examples of possible program alternatives and proposed guidelines for health care in specific situations were presented, as well as the roles and functions of the key health personnel within the Community Nursing Service System. This Rural Health Service Model was proposed as a real alternative to the maldistributed, inequitable, uncoordinated solo-practice, physician-centered fee-for-service health care available to Koreans today.
The distributions of the ionospheric conductivities, electric potential, ionospheric currents, field-aligned currents, Joule heating rate, and particle energy input rate by auroral electrons along with the characteristics of auroral particle spectrum are examined during moderately disturbed period by using the computer code developed by Kamide et al. (1981) and the ionospheric conductivity model developed by Ahn et al. (1995). Since the ground magnetic disturbance data are obtained from a single meridian chain of magnetometers (Alaska meridian chain) for an extended period of time (March 9 - April 27, 1978), they are expected to present the average picture of the electrodynamics over the entire polar ionosphere. A number of global features noted in this study are as follows: (1) The electric potential distribution is characterized by the so-called two cell convection pattern with the positive potential cell in the morning sector extending into the evening sector. (2) The auroral electrojet system is well developed during this time period with the signatures of DP-1 and DP-2 current systems being clearly discernable. It is also noted that the electric field seems to play a more important role than the ionospheric conductivity the conductivity over the poleward half of the westward electrojet in the morning sector while the conductivity enhancement seems to be more important over its equatorward half. (3) The global field-aligned current distribution pattern is quite comparable with the statistical result obtained by Iijima and Potemra (1976). However, the current density of Region 1 is much higher than that of Region 2 current at pointed out by pervious studies (e.g.; Kamide 1988). (4) The Joule heating occurs over a couple of island-like areas, one along the poleward side of the westward electrojet region in the afternoon sector. (5) The maximum average energy of precipitating electrons is found to be in the morning sector (07∼08 MLT) while the maximum energy flux is registered in the postmidnight sector (02 MLT). Thus auroral brightening and enhancement of ionospheric conductivity during disturbed period seem to be more closely associated with enhancement of particle flux rather than hardening of particle energy.
Objectives : Child and adolescent onset obsessive compulsive disorder(C-OCD) is known to be associated with poor drug response, high comorbid rate and strong genetic tendencies. Till now studies for C-OCD have been very rare in Korea. We conducted this study to investigate the informations about clinical features, familial psychiatric loading, treatment profiles and course of server C-OCD from the retrospective analysis of inpatient data of Seoul National University Children's Hospital. Method : Retrospective chart review and data analysis was performed. Twenty(male 16 : female 4) patients with final C-OCD diagnosis by DSM-IV at discharge from 1994 to 2002 were found and their medical chart, psychological data, family interview data and nursing reports were collected and analyzed. Results : 1) The sex ratio of C-OCD was male dominant(4:1). 2) Phenomenological, most common obsession was pathologic doubt, contamination fear, followed by aggressive obsession, need for symmetry, sexual obsession, most common compulsion was checking and washing, followed by breathing, movement, symmetry, repetitive asking, hoarding, mental compulsion. 3) Most common comorbid diagnosis was depression. Other axis-I diagnosis associated OCD were anxiety disorder, tic disorder, conduct and oppositional defiant disorder and psychosis. 4) Regarding psychiatric familial loadings, 17 patients(85%) had relatives with psychiatric disorders, OC-spectrum disorders(OCD or OCPD) were found in 9 patients(45%). 5) The majority of patients(75%) have received SSRI and antipsychotics treatment. The response rate above 'moderate improved" by CGI was 75%. 6) During follow-up period in outpatient clinic, five patients(25%) showed continuous complete remission, 10 patients (50%) did residual symptoms with chronic course. Conclusion : This seems to be the first systemic investigation of severe pediatric OCD patients in Korea. The children & adolescents with severe OCD in inpatient-setting showed the high comorbid rate, familial psychiatric loading, and combined pharmacotherapy with antipsychotics, As for symptoms, high rate of aggressive-sexual obsession and atypical compulsions like breathing and moving was reported in this study. Severe pediatric OCD patients, however, responded well to the combined SSRI and antipsychotics regimen.
The objective of this study was to identify the life form characteristics, naturalized degree and introduction period of naturalized plants on upland fields in South Korea. The survey sites were selected in 222 upland fields over 9 provinces where are relatively dry soil conditions and are disturbed continuously by farming practices. It seemed that these uplands maintain good condition for the invasion and settlement of alien plants. Field surveys were carried out twice from May to June and from August to September in 2013. The vascular plants of the upland fields were listed into 539 taxa which contain 103 families, 320 genera, 448 species, 2 subspecies, 74 varieties and 15 forms. Ninety nine taxa were naturalized plants composed of 23 families, 64 genera, 91 species and 8 varieties. The urbanization index and naturalized index is 30.65% and 18.37%, respectively. Among total 99 naturalized plants, Compositae (30 taxa) was the most dominant family, and followed by Gramineae (14 taxa). On the basis of dormancy form, 78 taxa were belong to Th (Therophyte). In radicoid form,
The Human gene testing act (GenDG) in Germany starts from the characteristic features of gene testing, i.e. dualisting structure consisted of anlaysis on the one side and the interpretation on the other side. The linguistic distincion of 'testing', 'anlaysis' and 'judgment' in the act is a fine example. Another important basis of the regulation is the ideological purpose of the law, that is information autonomy. The normative texts as such and the founding principle are the basis of the classification of testing types. Especially in the case of gene testing for medical purpose is classified into testing for diagnostic purpose and predictive purpose. However, those two types are not always clearly differentiated because the predictive value of testing is common in both types. In the legal regulation of gene testing it is therefore important to manage the uncertainty and subjectivity which are inherent in the gene-analysis and the judgment. In GenDG the system ensuring the quality of analysis is set up and GEKO(Commity for gene tisting) based on the section 23 of GenDG concretes the criterium of validity through guidelines. It is also very important in the case of gene testing for medical purpose to set up the system for ensurement of procedural rationality of the interpretation. The interpretation of the results of analysis has a wide spectrum because of the consistent development of technology on the one side and different understandings of different subjects who performs gene testings. Therefore the process should include the communication process for patients in oder that he or she could understand the meaning of gene testing and make plans of life. In GenDG the process of genetic counselling and GEKO concretes the regulation very precisely. The regulation as such in GenDG seems to be very suggestive to Korean legal polic concerning the gene testing.
The analytical conditions including surface state, moisture effect, and device condition were investigated for applying Short Wave Infrared(SWIR) spectroscopy to the field survey. Among the three surface state of samples (exposed surface, cutting face and powder), both spectra from the exposed surface and cutting face are almost identical whereas spectral variation was detected in powder sample. Over 24-hours-dryring of the wet sample at room temperature, the samples show a similar spectrum with that of dry condition. The result suggests that outcrop samples mighty be dried for 24 ~ 48 hours depending on the wetness of outcrop. The bright minerals could produce stable spectra with 10 times measurements as default value of the device under SWIR spectroscopy but the dark minerals would require about 10 seconds, which corresponds to 100 times measurements to get the reliable spectra. The position and shape 2,160 ~ 2,330 nm and/or other spectral features of hydrothermal alteration minerals by SWIR spectroscopy could be used for a classification of hydrothermal alteration zone in the field. Absorption peaks in 2,160 ~ 2180 nm are useful for identifying (advanced) argillic zone by spectral characteristics of kaoline, dickite, pyrophyllite, and alunite. Absorption peaks in 2,180 ~ 2,230 nm are able to define muscovite, sericite, and smectite, which are key alteration minerals in phyllic zone. Absorption peaks in 2,230 ~ 2,270 nm can be used to recognize prophylitic zone where chlorite and epidote occur. Absorption peaks of other principle minerals such as talc, serpentine, amphibole, and carbonate group are mainly detected within the wave length of 2,270 ~ 2,330 nm. This result indicates that the spectra of these minerals need to be carefully interpreted.
Purpose: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the enzyme
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