• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.1-7
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• 2021

Gaucher disease (GD, OMIM #230800 OMIM#230800) is a rare, autosomal recessive inherited metabolic disorder caused by mutation in GBA1 encoding the lysosomal enzyme, glucocerebrosidase. The deficiency of glucocerebrosidase leads to an accumulation of its substrate, glucosylceramide in macrophages of various tissues. Common clinical manifestations include cytopenia, splenomegaly, hepatomegaly, and bone lesions. The phenotype of GD is classified into three clinical categories: Type 1 (non-neuronopathic) is characterized by involvements on the viscera, whereas types 2 and 3 (neuronopathic) are associated with not only visceral symptoms but also neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 should be identified as they may be of prognostic value in some cases. Biomarkers including Chitotriosidase, CCL18, and glucosylsphingosine (lyso-GL1) are useful in diagnosis and treatment monitoring. Currently available disease-specific treatment in Korea consists of intravenous enzyme replacement therapy and substrate reduction therapy. For enhancing long-term prognosis, the onset of Parkinson's disease and Lewy body dementia, or the occurrence of a blood disease or cancer (hepatocellular carcinoma) should be monitored in older patients. The development of new strategies that can modify the neurological phenotype are expected, especially in Asia including Korea, where the prevalence of neuronopathic GD is relatively higher than that in western countries.

• Molecules and Cells
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• v.44 no.12
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• pp.861-878
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• 2021

The human genome contains many retroviral elements called human endogenous retroviruses (HERVs), resulting from the integration of retroviruses throughout evolution. HERVs once were considered inactive junk because they are not replication-competent, primarily localized in the heterochromatin, and silenced by methylation. But HERVs are now clearly shown to actively regulate gene expression in various physiological and pathological conditions such as developmental processes, immune regulation, cancers, autoimmune diseases, and neurological disorders. Recent studies report that HERVs are activated in patients suffering from coronavirus disease 2019 (COVID-19), the current pandemic caused by SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection. In this review, we describe internal and external factors that influence HERV activities. We also present evidence showing the gene regulatory activity of HERV LTRs (long terminal repeats) in model organisms such as mice, rats, zebrafish, and invertebrate models of worms and flies. Finally, we discuss several molecular and cellular pathways involving various transcription factors and receptors, through which HERVs affect downstream cellular and physiological events such as epigenetic modifications, calcium influx, protein phosphorylation, and cytokine release. Understanding how HERVs participate in various physiological and pathological processes will help develop a strategy to generate effective therapeutic approaches targeting HERVs.

• Korean Journal of Veterinary Research
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• v.42 no.3
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• pp.397-402
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• 2002

Clinical usefulness of somatosensory evoked potentials (SSEP) as a prognostic tool was evaluated with three dogs showing clinical signs associated with intervertebral disc diseases. Prior to measure SSEP, history taking, physical examination, radiological study and neurological examination were performed. In case 1, poor prognosis was predicted because deep pain was not observed and loss of sensory function was observed in SSEP. And the clinical signs persisted with the conservative treatment. However, in cases 2 and 3, good prognoses were predicted by normal conduction velocity in SSEP that meant the presence of sensory function. The clinical signs of cases 2 and 3 disappeared at days 18 and 13 after treatment, respectively. These results suggest SSEP be used clinically as a prognostic tool in dogs with intervertebral disc diseases.

• Therapeutic Science for Rehabilitation
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• v.1 no.1
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• pp.39-56
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• 2012

Introduction : Animal studies cannot be applied directly to Occupational Therapy(OT) intervention protocol. However, animal models still provide essential evidences and knowledge to improve OT practice and to develop OT theories as well as human studies do. The purpose of this scholarly paper is to explore the potential of animal models to inform OT theory and practice particularly as it relates to neuroscience. Body : The animal models provide related knowledge for a better understanding of the mechanism of diseases and related neural networks. Based on this knowledge, researchers can test their hypothesis of neural disease. In addition, accumulated animal studies contribute to introduce the new approaches to human diseases and to improve the effectiveness of treatment. Conclusions : Animal models of neurological disease are critical and have the potential to improve OT practice and theory in many ways. Therefore, OT researchers need to pay more attention to animal models in addition human studies.

• IMMUNE NETWORK
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• v.11 no.5
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• pp.227-244
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• 2011

MicroRNAs (miRNAs) are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs (mRNAs). Recent studies have clearly demonstrated that miRNAs play critical roles in several biologic processes, including cell cycle, differentiation, cell development, cell growth, and apoptosis and that miRNAs are highly expressed in regulatory T (Treg) cells and a wide range of miRNAs are involved in the regulation of immunity and in the prevention of autoimmunity. It has been increasingly reported that miRNAs are associated with various human diseases like autoimmune disease, skin disease, neurological disease and psychiatric disease. Recently, the identification of miRNAs in skin has added a new dimension in the regulatory network and attracted significant interest in this novel layer of gene regulation. Although miRNA research in the field of dermatology is still relatively new, miRNAs have been the subject of much dermatological interest in skin morphogenesis and in regulating angiogenesis. In addition, miRNAs are moving rapidly center stage as key regulators of neuronal development and function in addition to important contributions to neurodegenerative disorder. Moreover, there is now compelling evidence that dysregulation of miRNA networks is implicated in the development and onset of human neruodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Tourette's syndrome, Down syndrome, depression and schizophrenia. In this review, I briefly summarize the current studies about the roles of miRNAs in various autoimmune diseases, skin diseases, psychoneurological disorders and mental stress.

• Journal of Microbiology and Biotechnology
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• v.17 no.7
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• pp.1059-1070
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• 2007

Prion diseases, often called transmissible spongiform encephalopathies (TSEs), are infectious diseases that accompany neurological dysfunctions in many mammalian hosts. Prion diseases include Creutzfeldt-Jakob disease (CJD) in humans, bovine spongiform encephalopathy (BSE, "mad cow disease") in cattle, scrapie in sheep, and chronic wasting disease (CWD) in deer and elks. The cause of these fatal diseases is a proteinaceous pathogen termed prion that lacks functional nucleic acids. As demonstrated in the BSE outbreak and its transmission to humans, the onset of disease is not limited to a certain species but can be transmissible from one host species to another. Such a striking nature of prions has generated huge concerns in public health and attracted serious attention in the scientific communities. To date, the potential transmission of prions to humans via foodborne infection and iatrogenic routes has not been alleviated. Rather, the possible transmission of human to human or cervids to human aggravates the terrifying situation across the globe. In this review, basic features about prion diseases including clinical and pathological characteristics, etiology, and transmission of diseases are described. Based on recently accumulated evidences, the molecular and biochemical aspects of prions, with an emphasis on the molecular interactions involved in prion conversion that is critical during prion replication and pathogenesis, are also addressed.

• Animal cells and systems
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• v.14 no.4
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• pp.275-282
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• 2010

Chunghyul-dan (CHD) is a combinatorial drug known to exert anti-inflammatory effects in endothelial cells. In this study, we employed global transcriptional profiling using cDNA microarrays to identify molecular mechanisms responsible for the anti-inflammatory activity of CHD in endothelial cells. An analysis of the microarray data revealed that transcript levels of monocyte chemotactic protein-1 (MCP-1), vascular cell-adhesion molecule-1 (VCAM-1) and activated leukocyte cell-adhesion molecule were dramatically altered in CHD-treated endothelial cells. These changes in gene expression were confirmed by RT-PCR, Western blotting and ELISA. Chronic CHD treatment also appeared to decrease MCP-1 secretion, probably as a result of decreased MCP-1 expression. In addition, we determined that chronic CHD treatment inhibited lipopolysaccharide-stimulated adhesion of THP-1 leukocytes to endothelial cells. The inhibitory effect of CHD on LPS-stimulated adhesion resulted from downregulation of VCAM-1 expression. Transmigration of THP-1 leukocytes through endothelial cells was also inhibited by chronic CHD treatment. In conclusion, CHD controls a variety of inflammatory activities by regulating MCP-1 and VCAM-1 gene expression.

• IMMUNE NETWORK
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• v.21 no.3
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• pp.20.1-20.18
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• 2021

The gut is an important organ with digestive and immune regulatory function which consistently harbors microbiome ecosystem. The gut microbiome cooperates with the host to regulate the development and function of the immune, metabolic, and nervous systems. It can influence disease processes in the gut as well as extra-intestinal organs, including the brain. The gut closely connects with the central nervous system through dynamic bidirectional communication along the gut-brain axis. The connection between gut environment and brain may affect host mood and behaviors. Disruptions in microbial communities have been implicated in several neurological disorders. A link between the gut microbiota and the brain has long been described, but recent studies have started to reveal the underlying mechanism of the impact of the gut microbiota and gut barrier integrity on the brain and behavior. Here, we summarized the gut barrier environment and the 4 main gut-brain axis pathways. We focused on the important function of gut barrier on neurological diseases such as stress responses and ischemic stroke. Finally, we described the impact of representative environmental sensors generated by gut bacteria on acute neurological disease via the gut-brain axis.

• Journal of Society of Preventive Korean Medicine
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• v.3 no.2
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• pp.101-128
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• 1999

A study on disease treated at oriental medical treatment facilities (OMTF) and patients' satisfaction levels was conducted in order to figure out why the patients visited oriental medical doctors and the level of satisfaction of the patients for the services offered to them by oriental medical doctors. This study was performed from March 2 through May 31, 1998 by interviewing 1.532 persons living in major and small cities in korea. The results obtained were summarized as follows; 1. The general characteristics of subjects. The highest portion of each part was, 66.9% female, persons in the age group of over 60's 22.7%, high school graduated 34.9%, house wife 30.8%, The married 65.0%, Buddhist 36.9%, maj or city residents 60.2%, company covered insurance benefiter 39.0% and etc. 2. 40.5% of subjects visited OMTF for skeletal and connective tissue diseases. 21.5% for digestive system diseases. 16.2% for respiratory system diseases. 13.3% for circulatory system diseases and 9.0% for neurological problems. 3. 42.7% of males visited OMTF for skeletal and connective tissue diseases, which were the highest and respiratory system disorders, digestive system disorders, circulatory system disorders and neurological diseases in order. 39.4% of females visited OMTF for skeletal and connective tissue disorders which were the highest and other conditions such as digestive system, circulatory, respiratory, and neurological disorders in order. 4. The males with circulatory system disorders were treated by herbal medicine, combination of herbal medicine and acupuncture, only in order. The females with the some conditions above were treated by combination of herbal medicine and herbal medical and acupuncture only in order. The males and females with respiratory system and digestive system diseases were treated by herbal medicine, combination of herbal medicine and acupuncture only in order. But the males and females with skeletal and connective tissue diseases were by acupuncture are the highest in order. 5. The females and persons in the age group of over 60' s and house wife. the not married, the unhealthy persons, residents living in small cities, the persons with high income by medical treatments frequency in circulatory system diseases are the highest. 6, The females, middle school graduated and the married, persons in the age group of over 60's, unemployed, sales and service industry workers, Buddhists, major city residents, the unhealthy persons, the persons with middle income by medical treatments frequency in respiratory system diseases are the highest. 7. The females, persons in the age group of over 60's, under graduated or elementary school graduated, the unemployed and house wife, the unmarried, Buddhists, major city residents, the unhealthy persons, the persons with low income by medical treatments frequency in digestive system diseases are the highest. 8. The males, major city residents, old ages, under graduated or elementary school graduated, go earn officials, people grown in small city, the persons who had health insurance policies, the persons with low income, the unhealthy persons by medical treatments frequency in skeletal and connective tissue disorders diseases. 9. 50.8% of the respondents said that the treatments at the OMTF were very effective. 47.7% of them said that the treatments were effective. The males, persons in the age group of 40's, high school graduates, official workes, the married, the persons who did not have religion, major city residents, the persons who had health insurance policies, the persons with high income and the healthy persons said that the treatment effects at OMTF were satisfactory. 10. The patients' satisfaction rate for OMTF on each disease is, 1st. Musculo-Skeletal system(most satisfied), 2nd. the pregnancy & delivery complications, 3rd. Eye & ophthalmics, 4th. Respiratory system, 5th. Mental & bodily disorder, 6th. Digestive system and etc. 11. The factors affect OMTF are age, satisfaction for OMTF, current disease, religion, efficiency of Oriental Medicine, health condition and etc. This explained power of variable were 39.0%. 12. The satisfied factors for OMTF is correlate to educational level, and economical variables.

• Journal of Korean Neurosurgical Society
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• v.30 no.1
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• pp.78-80
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• 2001

The bone formation accompanied with other diseases in brain has been rarely reported. Furthermore, it has not been reported without any specific disease. We report a case of a 27 year old female who was referred to our hospital because of the incidentally found calcified lesion in plain X-ray of the skull. The CT and MRI of the brain showed a calcification with minimal enhancement at left parietal area. The calcified lesion was removed and biopsy was performed with stereotactic guided craniotomy. Pathologically, the lesion was confirmed as the membranous bone which was composed of bony trabeculations with osteocytes and the biopsy from adjacent area to the bone revealed a gliosis without any other disease.