• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.1
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• pp.14-20
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• 2018

Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders caused by specific lysosomal enzyme deficiencies leading to the sequential degradation of glycosaminoglycans, causing substrate accumulation in various cells and tissues and progressive multiple organ dysfunction. The rare disease medical care team at Mackay Memorial Hospital in Taiwan has been dedicated to the study of MPSs for more than 20 years. Since 1999, more than 50 academic papers focusing on MPSs have been published in international medical journals. Topics of research include the following items regarding MPSs: incidence, natural history, clinical manifestations, gene mutation characteristics, cardiac function, bone mineral density, sleep studies, pulmonary function tests, hearing assessments, percutaneous endoscopic gastrostomy, anesthetic experience, imaging analysis, special biochemical tests, laboratory diagnostics, global expert consensus conferences, prenatal diagnosis, new drug clinical trials, newborn screening, and treatment outcomes. Of these published academic research papers, more than half were cross-domain, cross-industry, and international studies with results in cooperation with experts from European, American and other Asian countries. A cross-specialty collaboration platform was established based on high-risk population screening criteria with the acronym "BECARE" (Bone and joints, Eyes, Cardiac and central nervous system, Abdomen and appearance, Respiratory system, and Ear, nose, and throat involvement). Through this platform, orthopedic surgeons, rheumatologists, ophthalmologists, cardiologists, rehabilitation physicians, gastroenterologists, otorhinolaryngologists, and medical geneticists have been educated with regards to awareness of suspected cases of MPSs patients to allow for a further confirmative diagnosis of MPSs. Because of the progressive nature of the disease, an early diagnosis and early multidisciplinary therapeutic interventions including surgery, rehabilitation programs, symptom-based treatments, hematopoietic stem cell transplantation, and enzyme replacement therapy, are very important.

• Herbal Formula Science
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• v.18 no.2
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• pp.267-277
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• 2010

Objective : Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS) syndrome is a progressive neurodegenerative disorder. The typical presentation of patients with MELAS syndrome includes features such as mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes. Other features, such as seizures, diabetes mellitus, hearing loss, cardiac disease, short stature, endocrinopathies, exercise intolerance, and neuropsychiatric dysfunction are clearly part of the disorder. Approximately 80% of patients with the clinical characteristics of MELAS syndrome have a genetic mutation. This progressive disorder is reported to have a high morbidity and mortality. This case report is intended to estimate clinical effects of oriental meedicinal treatment of MELAS syndrome. Methods : A 44 year old female patient diagnosed as MELSA syndrome was treated with general oriental medicinal therapy including acupuncture, moxibustion, cupping, pharmacupunture and herbal medication in 20XX in Wonkwang Medical Center Gwangju. And the changes in symptoms and signs were evaluated as time dependently. Results : Although there is currently no curable treatment and MEALS syndrome is tend to progress, our treatment showed improvement in general weakness, gait disturbance and pain in the patient. Conclusion : Our case report suggests that various oriental medicinal treatment could be effective for improvement of MELAS syndrome and may represent a new potential therapeutic approach to control the disease. It could be applied to improve general condition, prevent relapse, enhance the quality of life and reduce complaints in the patient.

• Journal of The Korea Institute of Healthcare Architecture
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• v.22 no.4
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• pp.79-86
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• 2016

Purpose: The purpose of this study is to identify the effect of Progressive Space Organization (ante-rooms) in Negative Pressured Isolation Unit(NPIU) such as National and Regional Isolation Units in Korea in order to build basic data for the evidence based design of Airborne Infection Isolation Units which should prepare and respond effectively to the public health crisis due to the hazardous airborne infectious disease. Methods: 1) Gas(SF6) test and analysis on the 23 Korean Isolation Units under operation. 2) Assessment of the isolation level of the space components by checking the Gas concentration. 3) Analysis of the Isolation Effectiveness according to Space Organizational levels. Results: 1) The higher segregation level is, the lower Gas(SF6) concentration is. 2) Too many segregations(anterooms) of Isolation Unit are not efficient for the prevention of infectious bacillus spread. For example, 4 level of segregation has similar segregation effect to the 3 level of segregation. Implications: Many anterooms in front of the isolated patient bedroom will guarantee the safe environment against the danger of hazardous airborne nosocomial infection. On the other hand, too many segregations is inefficient, expensive, inconvenient, narrow(unflexible) and so on. This study can be used as basic data for further development of design guidelines of isolation units.

• Journal of Korean Neurosurgical Society
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• v.60 no.5
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• pp.534-539
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• 2017

Objective : Patients with hematological malignancies frequently encounter spine-related symptoms, which are caused by disease itself or process of treatment. However, there is still lack of knowledge on their epidemiology and clinical courses. The purpose of this article is to review clinical presentations and surgical results for spinal involvement of hematologic malignancies. Methods : From January 2011 to September 2014, 195 patients (98 males and 97 females) suffering from hematological malignancies combined with spinal problems were retrospectively analyzed for clinical and radiological characteristics and their clinical results. Results : The most common diagnosis of hematological malignancy was multiple myeloma (96 patients, 49.7%), followed by chronic myeloid leukemia (30, 15.2%), acute myeloid leukemia (22, 11.2%), and lymphoma (15, 7.56%). The major presenting symptoms were mechanical axial pain (132, 67.7%) resulting from pathologic fractures, and followed by radiating pain (49, 25.1%). Progressive neurologic deficits were noted in 15 patients (7.7%), which revealed as cord compression by epidural mass or compressive myelopathy combined with pathologic fractures. Reconstructive surgery for neurologic compromise was done in 16 patients. Even though surgical intervention was useful for early paralysis (Frankel grade D or E), neurologic recovery was not satisfactory for the progressed paralysis (Frankel grade A or B). Conclusion : Hematological malignancies may cause various spinal problems related to disease progression or consequences of treatments. Conservative and palliative treatments are mainstay for these lesions. However, timely surgical interventions should be considered for the cases of pathologic fractures with progressive neurologic compromise.

• The Journal of the Society of Stroke on Korean Medicine
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• v.16 no.1
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• pp.25-34
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• 2015

■ Objectives The purpose of this case report is to show the effect of korean medicine on a progressive supranuclear palsy patient with gait disturbance and dizziness. ■ Methods A patient with gait disturbance and dizziness diagnosed as progressive supranuclear palsy was treated with herbal medicine, acupuncture, electro-acupuncture, moxibustion. The period of admission is 16 days and we evauated the improvements of symptoms by the Unified Parkinson's Disease Rating Scale(UPDRS), Numeric Rating Scale(NRS) and Global Assessment(G/A). ■ Results After taking Modified Bosimhwan andbeing treated by acupuncture therapy, improvements of gait disturbance and dizziness are observed. ■ Conclusion This case report proved the effect of Korean medicine on progressive supranuclear palsy.

• Journal of Korean Neurosurgical Society
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• v.56 no.2
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• pp.162-165
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• 2014

Idiopathic hypertrophic spinal pachymeningitis (IHSP) is a chronic, progressive, inflammatory disorder characterized by marked fibrosis of the spinal dura mater with unknown etiology. According to the location of the lesion, it might induce neurologic deficits by compression of spinal cord and nerve root. A 58-year old female with a 3-year history of progressive weakness in both lower extremities was referred to our institute. Spinal computed tomography (CT) scan showed an osteolytic lesion involving base of the C6 spinous process with adjacent epidural mass. Magnetic resonance imaging (MRI) revealed an epidural mass involving dorsal aspect of cervical spinal canal from C5 to C7 level, with low signal intensity on T1 and T2 weighted images and non-enhancement on T1 weighted-enhanced images. We decided to undertake surgical exploration. At the operation field, there was yellow colored, thickened fibrous tissue over the dura mater. The lesion was removed totally, and decompression of spinal cord was achieved. Symptoms improved partially after the operation. Histopathologically, fibrotic pachymeninges with scanty inflammatory cells was revealed, which was compatible with diagnosis of idiopathic hypertrophic pachymeningitis. Six months after operation, motor power grade of both lower extremities was normal on physical examination. However, the patient still complained of mild weakness in the right lower extremity. Although the nature of IHSP is generally indolent, decompressive surgery should be considered for the patient with definite or progressive neurologic symptoms in order to prevent further deterioration. In addition, IHSP can present as an osteolytic lesion. Differential diagnosis with neoplastic disease, including giant cell tumor, is important.

• Journal of fish pathology
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• v.33 no.1
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• pp.23-34
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• 2020

In recent years, global warming is causing dramatic environmental changes and deterioration, such as hypoxia, leading to reduced survival rate and growth performance of farmed aquatic animals. Hence, understanding systemic immuno-physiological changes in fish under environmental stress might be important to maximize aquaculture production. In this study, we investigated physiological changes in rainbow trout exposed to hypoxic stress by monitoring changes in blood chemistry, leukocyte population, and expression levels of related cytokine genes. Hematological and serological factors were evaluated in blood obtained from rainbow trout sampled at a dissolved level of 4.6 mg O₂ L^-1 and 2.1 mg O₂ L^-1. Blood and head kidney tissue obtained at each sampling time point were used to determine erythrocyte size, leukocyte population, and cytokine gene expression. The level of LDH and GPT in fish under progressive hypoxia were significantly increased in plasma. Likewise, the (Granulocyte + Macrophage)/lymphocyte ratio (%) of fish exposed to hypoxia was significantly lower than that in fish in the control group. Such changes might be due to the rapid movement of lymphocytes in fish exposed to acute hypoxia. In this study, significant up-regulation in expression levels of IL-1β and IL-6 gene appeared to be involved in the redistribution of leukocytes in rainbow trout. This is the first study to demonstrate the involvement of cytokines in leukocyte trafficking in fish exposed to hypoxia. It will help us understand systemic physiological changes and mechanisms involved in teleost under hypoxic stress.

• Dementia and Neurocognitive Disorders
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• v.17 no.3
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• pp.110-119
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• 2018

Background and Purpose: To analyze $^{18}F-THK5351$ positron emission tomography (PET) scans of patients with clinically diagnosed nonfluent/agrammatic variant primary progressive aphasia (navPPA). Methods: Thirty-one participants, including those with Alzheimer's disease (AD, n=13), navPPA (n=3), and those with normal control (NC, n=15) who completed 3 Tesla magnetic resonance imaging, $^{18}F-THK5351$ PET scans, and detailed neuropsychological tests, were included. Voxel-based and region of interest (ROI)-based analyses were performed to evaluate retention of $^{18}F-THK5351$ in navPPA patients. Results: In ROI-based analysis, patients with navPPA had higher levels of THK retention in the Broca's area, bilateral inferior frontal lobes, bilateral precentral gyri, and bilateral basal ganglia. Patients with navPPA showed higher levels of THK retention in bilateral frontal lobes (mainly left side) compared than NC in voxel-wise analysis. Conclusions: In our study, THK retention in navPPA patients was mainly distributed at the frontal region which was well correlated with functional-radiological distribution of navPPA. Our results suggest that tau PET imaging could be a supportive tool for diagnosis of navPPA in combination with a clinical history.

• Journal of Korean Neurosurgical Society
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• v.46 no.6
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• pp.558-563
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• 2009

Objective : Moyamoya disease (MMD) is an uncommon cerebrovascular disorder, characterized by progressive occlusion at the terminal portion of the internal carotid artery. Incidence of the disease is high in East Asia and familial MMD accounts for about 15% of the disease. Although the pathogenesis is unknown, association of HLA class I or II alleles with MMD has been reported with conflicting results. We investigated whether there is a difference in HLA class II association between familial and non-familial forms of the disease. Methods : A total of 70 Korean children with MMD, including 16 familial cases (10 probands), and 207 healthy controls were studied. Among familial cases, only 10 probands were used for the HLA frequency analysis. High resolution HLA-DRB1 and DQB1 genotyping was performed using polymerase chain reaction (PCR)-sequence specific oligonucleotide hybridization and PCR-single strand conformation polymorphism methods. Results : The phenotype frequencies of HLA-DRB1*1302 (70.0%) and DQB1*0609 (40.0%) were significantly increased in familial MMD compared to both controls [vs. 15.5%, corrected p ($p_c$) = 0.008, odds ratio (OR) = 12.76; vs. 4.3%, $p_c\;=\;0.02$, OR = 14.67] and non-familial MMD patients (vs. 14.8%, $p_c\;=\;0.02$, OR = 13.42; vs. 1.9%, $p_c\;=\;0.02$, OR = 35.33). The frequencies of DRB1 and DQB1 alleles in non-familial MMD patients were not significantly different from those in controls. Conclusion : Our findings suggest that the genetic polymorphism of HLA class II genes or other closely linked disease relevant gene(s) could be a genetic predisposing factor for familial MMD.

• Journal of Genetic Medicine
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• v.6 no.2
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• pp.161-165
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• 2009

Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-${\alpha}$-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal muscle. The classic infantile form of Pompe disease is characterized by marked cardiomegaly, respiratory failure and severe generalized hypotonia. Most patients die from cardiorespiratory failure or respiratory infection within the first year or two of life without treatment. A "non-classic" phenotype presents with less severe clinical feature and slow progression of disease. We report two patients with non-classic infantile Pompe disease from one family manifested hypertrophic cardiomyopathy and progressive proximal weakness.