• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.22-28
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• 2021

Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan-inherited lysosomal storage disease. It is one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterized by intellectual regression, behavioral and sleep disturbances, loss of ambulation, and early death. Unlike other MPS, no disease-modifying therapy has been approved. Here, we review the curative therapy developed for MPS III, from historically ineffective hematopoietic stem cell transplantation and substrate reduction therapy to the promising enzyme replacement therapy or adeno-associated/lentiviral vector-mediated gene therapy. Preclinical studies are presented with recent translational first-in-man trials. We also present experimental research with preclinical mRNA and gene-editing strategies. Lessons from animal studies and clinical trials have highlighted the importance of early therapy before extensive neuronal loss. Disease-modifying therapy for MPS III will likely mandate the development of new early diagnosis strategies.

• Safety and Health at Work
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• v.9 no.2
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• pp.144-148
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• 2018

Background: The objective of this study is to find temporal trends in the associations between cardiovascular disease and occupational risk factors in the context of the Canadian population. Methods: Population data were analyzed from the Canadian Community Health Survey (CCHS) collected between 2001 and 2014 for trends over time between heart disease and various occupational risk factors: hours worked, physical exertion at work, and occupation type (management/arts/education, business/finance, sales/services, trades/transportations, and primary industry/processing). Results: We found no significant difference in the average number of hours worked/wk between individuals who report having heart disease in all years of data except in 2011 ($F_{1,96}=7.02$, p = 0.009) and 2012 ($F_{1,96}=8.86$, p = 0.004). We also found a significant difference in the degree of physical exertion at work in 2001 ($F_{1,79}=7.45$, p = 0.008). There were statistically significant results of occupation type on self-reported heart disease from 2003 to 2014. Conclusion: Canadian data from the CCHS do not exhibit a trend toward an association between heart disease and the number of hours worked/wk. There is an association between heart disease and physical exertion at work, but the trend is inconsistent. The data indicate a trend toward an association between heart disease and occupation type, but further analysis is required to determine which occupation type may be associated with heart disease.

• Advances in pediatric surgery
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• v.8 no.1
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• pp.62-63
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• 2002

Various surgical techniques for Hirschsprung's disease including total colonic aganglionosis have been performed with similar results. The type of redo pull-through procedure is determined by the cause of failure and the type of primary pull-through.

• Clinical and Experimental Pediatrics
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• v.49 no.3
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• pp.242-250
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• 2006

Haemophilus influenzae type b(Hib) conjugate vaccines prevent Hib disease in individuals and reduce the carriage and transmission of the organism in the community. The incidence of Hib disease has been decreased dramatically in a diverse range of countries through the use of a variety of conjugate vaccines and vaccine schedules. In some countries, the vaccine has caused a near-disappearance of invasive Hib disease through a combination of direct protection and herd immunity. The effectiveness of the vaccine was not modified by the type of conjugate vaccine, the number of doses given(two, three or four), age at first vaccination(two months, 42 to 90 days, three months) and whether the vaccine was tested in an industrialized or developing country. Over 15 years of international experience with vaccines has also demonstrated that they are safe. In 2004, Hib vaccines were adapted in routine immunization in 92 countries in the world. Decisions regarding the use of the Hib vaccine in routine immunization schedules depend not only on the effectiveness and efficacy of the vaccine but also on factors such as burden of disease, vaccine cost, and competing priorities. In Korea, Hib disease burden seemed to be lower than other developed countries(~10/100,000). Moreover Hib vaccines showed excellent immunogenicity in Korean children in many studies. Therefore, a potential approach to economize the cost of Hib vaccines could be to explore the possibilities of using reduced vaccine doses for immunization as some other countries.

• Biomedical Science Letters
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• v.12 no.4
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• pp.311-318
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• 2006

The GJB2 mutation is mostly recessive in non-syndromic hearing loss, but specific mutations display a dominant type and syndromic hearing impairment. Both U54K and R75Q mutations present a dominant type in pedigrees with associated skin disorders. The purpose of this study was to investigate whether two GJB2 mutations can exhibit a dominant-negative effect on the growth abrogation and the gap junctional intercellular communication capacity exerted by wild-type connexin 26. A specific mutant region of GJB2 showed a loss of gap junction activity and a dominant negative effect on wild-type GJB2. The two mutants exerted a dominant-negative effect on the GJIC capacity and have independently effected GJB2 regulated growth of Hela cells; however, they have no dominant-negative growth effect on wild-type GJB2. It is proposed that the different mechanisms of the dominant-negative effect on wild-type GJB2 involve cell growth and GJIC function. This study describes mutations found in Korean deaf patients and that are typical of other east Asian regions.

• Journal of Physiology & Pathology in Korean Medicine
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• v.23 no.2
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• pp.301-307
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• 2009

In korean society, the chronic life style diseases are increasing. It is caused by the approach of the aged society and the highly increasing income. Accordingly the preventive side of the health promotion and management is very important. In the oriental medicine, the general disease pre-estimate and the management program are necessary. On this point, the sign forecast is very significant in connection with the disease pre-estimate in the preventive disease management side. The sign forecast according to the human shape type diagnosis is mainly the sign of the super-early stage, The difference of the shape type has the difference of the special affinity about the disease. Accordingly we can find the sign forecast from the latent disease in the early stage. In NAE-GYEONG(內經), the theory of "five body form's type" can be pre-estimated the latent tendency and the clue of the disease and the growing tendency of disease in relation to the Differentiation of Syndrome, In the disease pre-estimate side, the graspe and management of the sign forecast from the latent disease will be the part of the new development.

• Journal of Yeungnam Medical Science
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• v.36 no.3
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• pp.183-191
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• 2019

Some patients with type 1 and type 2 diabetes mellitus (DM) present with cognitive dysfunctions. The pathophysiology underlying this complication is not well understood. Type 1 DM has been associated with a decrease in the speed of information processing, psychomotor efficiency, attention, mental flexibility, and visual perception. Longitudinal epidemiological studies of type 1 DM have indicated that chronic hyperglycemia and microvascular disease, rather than repeated severe hypoglycemia, are associated with the pathogenesis of DM-related cognitive dysfunction. However, severe hypoglycemic episodes may contribute to cognitive dysfunction in high-risk patients with DM. Type 2 DM has been associated with memory deficits, decreased psychomotor speed, and reduced frontal lobe/executive function. In type 2 DM, chronic hyperglycemia, long duration of DM, presence of vascular risk factors (e.g., hypertension and obesity), and microvascular and macrovascular complications are associated with the increased risk of developing cognitive dysfunction. The pathophysiology of cognitive dysfunction in individuals with DM include the following: (1) role of hyperglycemia, (2) role of vascular disease, (3) role of hypoglycemia, and (4) role of insulin resistance and amyloid. Recently, some investigators have proposed that type 3 DM is correlated to sporadic Alzheimer's disease. The molecular and biochemical consequences of insulin and insulin-like growth factor resistance in the brain compromise neuronal survival, energy production, gene expression, plasticity, and white matter integrity. If patients claim that their performance is worsening or if they ask about the effects of DM on functioning, screening and assessment are recommended.

• Journal of Korean Academic Society of Home Health Care Nursing
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• v.21 no.2
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• pp.101-109
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• 2014

Purpose: The purpose of this study was to identify the difference in health behavior according to the anger expression styles in patients with coronary arteries disease. Methods: Participants included 99 patients with coronary artery disease who were treated with a percutaneous coronary intervention in K University Hospital in Seoul, from January to March 2012. The survey data were collected using the Anger Expression Inventory Korea Version and the Health Promoting Lifestyle Profile Version 2. The data were analyzed using descriptive statistics, acluster analysis, chi-square test,and ANOVA with the PASW 19.0program. Results: The anger expression styles identified from the cluster analysis were anger-control type(43.3%), anger-in/out type(42.4%), and high anger expression type(14.4%). The total score of the Health Promoting Life style Profile for the anger-control type was significantly higher than the other two types. Additionally, anger-control type showed significantly higher scores than the other two types in all domains of the Health Promoting Life style Profile. Conclusion: These results indicated that higher levels of anger-in and anger-out increased the risk of adverse health behavior and that anger control strategies could have some benefit in reinforcing healthy behavior in patients with coronary artery disease.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.58-62
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• 2006

Gaucher disease is an inherited disorder due to a deficiency in the activity of glucocerebrosidase (EC. 3.2.1.45) by genetic mutation which resulted from missense, nonsense, frameshift, deletion in long arm 21 of chromosome 1 (1q21). Gaucher disease is classified into the main three types as type 1 (nonneuronopathic), type 2 (acute neuronopathic) and type 3 (subacute neuronopathic) according to the progressive phase of manifestations and nervous system involvement. Gaucher disease patients had been treated by using the method as splenectomy and bone marrow transplantation. But enzyme replacement therapy as a more effective treatment has been available since the early 1990's. In order to treat Gaucher disease efficiently by using ERT, it is necessary to chase the progress of the therapy. In this study, therefore, we tried to chase the progress of the ERT by using the measurement of chitotriosidase activity in Gaucher disease patients.

• Korean Journal of Bronchoesophagology
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• v.4 no.1
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• pp.112-116
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• 1998

Castleman's disease was originally described as a localized mediastinal lymph node enlargement characterized by angiofollicular hyperplasia and intrafollicular capillary proliferation, with surgical removal of mass the only treatment required. It has been divided into two distict histologic types. The hyaline-vascular type is more common and characterized by small hyaline-vascular follicles and interfollicular proliferation. The plasma-cell type is occurred less frequent and more likely to present with constituitional symptoms. It commonly involves the mediastinal and pulmonary lymph nodes, with neck involvement in only 15% to 20% of cases. We report two cases of hyaline-vascular type of Castleman's disease located in the neck area with references to recent literature.