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1.  Work-related Cerebro-Cardiovascular Diseases in Korea 
Journal of Korean Medical Science  2010;25(Suppl):S105-S111.
Cerebro-cardiovascular disease (CVD) is one of compensable occupational diseases in Korea as in Japan or Taiwan. However, most countries accept only cardiovascular diseases (ischemic heart diseases) as compensable occupational diseases if any, but not cerebrovascular diseases. Korea has a prescribed list of compensable occupational diseases. CVD was not included in the list until 1993. In the early 1990s, a case of cerebral infarction was accepted as occupational disease by the Supreme Court. The decision was based on the concept that workers' compensation system is one of the social security systems. In 1994, the government has established a diagnostic criterion of CVD. The crude rate of compensated cerebrovascular disease decreased by 60.0% from 18.5 in 2003 to 7.4 in 2008 per 100,000 workers, and that of compensated coronary heart disease decreased by 60.5% from 3.8 in 2003 to 1.5 in 2008 per 100,000 workers. The compensated cases of CVD dramatically increased and reached its peak in 2003. Since many preventive activities were performed by the government and employers, the compensated cases have slowly decreased since 2003 and sharply decreased after 2008 when the diagnostic criterion was amended. The strategic approach is needed essentially because CVDs are common, serious and preventable diseases which lead to economic burden.
doi:10.3346/jkms.2010.25.S.S105
PMCID: PMC3023355  PMID: 21258582
Work-related; Cerebrovascular Diseases; Cardiovascular Diseases; Psychosocial Factors; Compensation; Korea
2.  A Case of Lewis-Sumner Syndrome Showing Dramatic Improvement after Plasma Exchange 
Journal of Korean Medical Science  2010;25(7):1101-1104.
We report a patient with Lewis-Sumner syndrome (LSS) who showed an improvement only with plasma exchange (PE). The patient, 32-yr old man, had progressive multifocal motor-sensory deficits with persistent, multiple conduction blocks and marked slowing of NCVs. Nerve pathology supported a diagnosis of demyelinating neuropathy by revealing marked loss of myelinated fibers with inter- and intrafascicular variation. Although the patient was refractory to treatment with corticosteroid and intravenous immunoglobulin, PE produced a dramatic improvement. Our experience strongly proposes that PE should be tried for refractory LSS.
doi:10.3346/jkms.2010.25.7.1101
PMCID: PMC2890894  PMID: 20592909
Lewis-Sumner Syndrome; Plasma Exchange; Conduction Block; Nerve Pathology; Cranial Nerve Diseases
4.  Mutations of CAPN3 in Korean Patients with Limb-Girdle Muscular Dystrophy 
Journal of Korean Medical Science  2007;22(3):463-469.
The limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessively inherited disease caused by a mutation of the calpain 3 gene (CAPN3), and is considered one of the most prevalent subtypes of limb-girdle muscular dystrophy (LGMD). In this study, we aimed to identify CAPN3 mutations and to characterize the phenotype of Korean patients with LGMD2A. Among 35 patients with LGMD, four patients, who showed calpain 3 deficiency on western blot analysis, were analyzed in this study. Total RNA extracted from frozen muscle tissue was amplified by reverse transcriptase polymerase chain reaction (RT-PCR) using six primer pairs covering all coding sequences of CAPN3, and direct sequencing was performed. Clinical and pathological features of the patients were also reviewed. We found four different mutations in five alleles from three patients. Of the pathogenic mutations identified, two were novel (c.2125T>C and c.2355-2357delTTC), and the others had been reported elsewhere (c.440G>C, c.1076C>T). All patients showed a high CK level with predominant proximal leg weakness, and the onset was in their childhood except for one patient. Among two novel CAPN3 mutations, one was a missense mutation (c.2125T>C [p.709Ser>Pro]), and the other was a small in-frame deletion causing omission of a single amino acid (c.2355-2357delTTC [p.786delPhe]). The clinical features of our patients were generally compatible with the characteristics of LGMD2A patients described in the previous studies.
doi:10.3346/jkms.2007.22.3.463
PMCID: PMC2693639  PMID: 17596655
Limb-Girdle Muscular Dystrophy; Calpain 3; Korean
5.  A Case of Lambert-Eaton Myasthenic Syndrome Associated with Atypical Bronchopulmonary Carcinoid Tumor 
Journal of Korean Medical Science  2004;19(5):753-755.
The Lambert-Eaton myasthenic syndrome (LEMS) is typically recognized as a paraneoplastic syndrome associated with a small cell lung carcinoma (SCLC), whereas LEMS with other neuroendocrine lung tumors, including carcinoids or large cell lung carcinoma, are highly unusual. Here, we report a rare case of LEMS with atypical bronchopulmonary carcinoid tumor: A 65-yr-old man presented with progressive leg weakness and a diagnosis of LEMS was made by serial repetitive nerve stimulation test. Chest CT revealed a lung nodule with enlargement of paratracheal lymph nodes, and surgically resected lesion showed pathological features of atypical carcinoid tumor. We concluded that LEMS could be associated with rare pulmonary neuroendocrine tumor other than SCLC, which necessitates pathologic confirmation followed by aggressive treatment for optimal management in these rare cases.
doi:10.3346/jkms.2004.19.5.753
PMCID: PMC2816344  PMID: 15483357
Lambert-Eaton Myasthenic Syndrome; Carcinoid Tumor; Electrodiagnosis
6.  Electrophysiological Characteristics of Six Mutations in hClC-1 of Korean Patients with Myotonia Congenita 
Molecules and Cells  2014;37(3):202-212.
ClC-1 is a member of a large family of voltage-gated chloride channels, abundantly expressed in human skeletal muscle. Mutations in ClC-1 are associated with myotonia congenita (MC) and result in loss of regulation of membrane excitability in skeletal muscle. We studied the electrophysiological characteristics of six mutants found among Korean MC patients, using patch clamp methods in HEK293 cells. Here, we found that the autosomal dominant mutants S189C and P480S displayed reduced chloride conductances compared to WT. Autosomal recessive mutant M128I did not show a typical rapid deactivation of Cl− currents. While sporadic mutant G523D displayed sustained activation of Cl− currents in the whole cell traces, the other sporadic mutants, M373L and M609K, demonstrated rapid deactivations. V1/2 of these mutants was shifted to more depolarizing potentials. In order to identify potential effects on gating processes, slow and fast gating was analyzed for each mutant. We show that slow gating of the mutants tends to be shifted toward more positive potentials in comparison to WT. Collectively, these six mutants found among Korean patients demonstrated modifications of channel gating behaviors and reduced chloride conductances that likely contribute to the physiologic changes of MC.
doi:10.14348/molcells.2014.2267
PMCID: PMC3969040  PMID: 24625573
chloride channel; ClC-1; myotonia congenital; skeletal muscle
7.  Gene Expression Profiles of Human Adipose Tissue-Derived Mesenchymal Stem Cells Are Modified by Cell Culture Density 
PLoS ONE  2014;9(1):e83363.
Previous studies conducted cell expansion ex vivo using low initial plating densities for optimal expansion and subsequent differentiation of mesenchymal stem cells (MSCs). However, MSC populations are heterogeneous and culture conditions can affect the characteristics of MSCs. In this study, differences in gene expression profiles of adipose tissue (AT)-derived MSCs were examined after harvesting cells cultured at different densities. AT-MSCs from three different donors were plated at a density of 200 or 5,000 cells/cm2. After 7 days in culture, detailed gene expression profiles were investigated using a DNA chip microarray, and subsequently validated using a reverse transcription polymerase chain reaction (RT-PCR) analysis. Gene expression profiles were influenced primarily by the level of cell confluence at harvest. In MSCs harvested at ∼90% confluence, 177 genes were up-regulated and 102 genes down-regulated relative to cells harvested at ∼50% confluence (P<0.05, FC>2). Proliferation-related genes were highly expressed in MSCs harvested at low density, while genes that were highly expressed in MSCs harvested at high density (∼90% confluent) were linked to immunity and defense, cell communication, signal transduction and cell motility. Several cytokine, chemokine and growth factor genes involved in immunosuppression, migration, and reconstitution of damaged tissues were up-regulated in MSCs harvested at high density compared with MSCs harvested at low density. These results imply that cell density at harvest is a critical factor for modulating the specific gene-expression patterns of heterogeneous MSCs.
doi:10.1371/journal.pone.0083363
PMCID: PMC3882209  PMID: 24400072
8.  Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy 
Background and Purpose
Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations.
Methods
Six patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations.
Results
We detected DNM2 mutations in four of the six sporadic CNM patients, and identified the following distinct clinical and pathological features in those patients with DNM2 mutations: preferential involvement of the distal lower limbs, typical nuclear centralization, and radially distributed sarcoplasmic strands in muscle pathology. In contrast, those without DNM2 mutations exhibited rather diffuse muscular involvement, and nuclear internalization and myofibrillar disorganization were more pronounced features of their muscle pathology.
Conclusions
These findings suggest the presence of specific features in Korean CNM patients. A detailed clinical and pathological examination of CNM patients would be helpful for molecular genetic analyses of this condition.
doi:10.3988/jcn.2014.10.1.24
PMCID: PMC3896645  PMID: 24465259
centronuclear myopathy; DNM2; muscle involvement; central nuclei; internal nuclei; sarcoplasmic strands
9.  Effect of Ex Vivo Culture Conditions on Immunosuppression by Human Mesenchymal Stem Cells 
BioMed Research International  2013;2013:154919.
A microarray analysis was performed to investigate whether ex vivo culture conditions affect the characteristics of MSCs. Gene expression profiles were mainly influenced by the level of cell confluence rather than initial seeding density. The analysis showed that 276 genes were upregulated and 230 genes downregulated in MSCs harvested at ~90% versus ~50% confluence (P < 0.05, FC > 2). The genes that were highly expressed in MSCs largely corresponded to chemotaxis, inflammation, and immune responses, indicating direct or indirect involvement in immunomodulatory functions. Specifically, PTGES and ULBP1 were up-regulated in MSCs harvested at high density. Treatment of MSCs with PTGES or ULBP1 siRNA reversed their inhibition of T-cell proliferation in vitro. The culture conditions such as cell confluence at harvest seem to be important for gene expression profile of MSCs; therefore, the results of this study may provide useful guidelines for the harvest of MSCs that can appropriately suppress the immune response.
doi:10.1155/2013/154919
PMCID: PMC3687591  PMID: 23862134
10.  Human bone marrow-derived mesenchymal stem cell gene expression patterns vary with culture conditions 
Blood research  2013;48(2):107-114.
Background
Because of the heterogeneity of human mesenchymal stem cells (MSCs), methods for cell expansion in culture and the effects on gene expression are critical factors that need to be standardized for preparing MSCs. We investigated gene expression patterns of MSCs with different seeding densities and culture times.
Methods
Bone marrow-derived MSCs were plated at densities from 200 cells/cm2 to 5,000 cells/cm2, and the gene expression patterns were evaluated over time using a reverse-transcription polymerase chain reaction assay.
Results
The mRNA levels of factors that play a critical role in cell migration and tissue regeneration, such as podocalyxin-like protein (PODXL), α4-integrin, α6-integrin, and leukemia inhibitory factor (LIF), were higher in MSCs plated at 200 cells/cm2 than in MSCs plated at 5,000 cells/cm2. The mRNA levels of these factors gradually increased for 10 days and then decreased by day 15 in culture. MSCs seeded at 200 cells/cm2 that were cultured for 10 days expressed high levels of Oct-4 and Nanog. Indoleamine 2,3-dioxygenase, cyclooxygenase-1, and hepatocyte growth factor expression were upregulated in the presence of the proinflammatory cytokine interferon-γ in these cells.
Conclusion
We found differences in the gene expression patterns of MSCs under different culture conditions. MSCs from 10-day cultures seeded at a low density were efficiently expanded, expressed PODXL, α6-integrin, α4-integrin, and LIF, and maintained properties like stemness and immunomodulation. Therefore, ex vivo expansion of MSCs maintained for an adequate culture time after plating at low cell density can provide an effective regenerative medicinal strategy for cell therapies using MSCs.
doi:10.5045/br.2013.48.2.107
PMCID: PMC3698395  PMID: 23826579
Mesenchymal stem cell; Gene expression pattern; Seeding density; Culture time; Cell therapy
11.  Etoposide sensitizes neuroblastoma cells expressing caspase 8 to TRAIL 
TRAIL [TNF (tumour necrosis factor)-related apoptosis-inducing ligand] is a promising agent for clinical use since it kills a wide range of tumour cells without affecting normal cells. We provide evidence that pretreatment with etoposide significantly enhanced TRAIL-mediated apoptosis via up-regulation of DR5 (death receptor 5 or TRAIL-R2) expression in the caspase 8 expressing neuroblastoma cell line, SK-N-MC. In addition, sequential treatment with etoposide and TRAIL increased caspases 8, 9 and 3 activation, Mcl-1 cleavage and Bid truncation, which suggests that the ability of etoposide and TRAIL to induce apoptosis is mediated through activation of an intrinsic signalling pathway. Although TRAIL-R2 expression increased in IMR-32 cells in response to etoposide treatment, cell death was not increased by concurrent treatment with TRAIL compared with etoposide alone, because the cells lacked caspase 8 expression. Restoration of caspase 8 expression by exposure to IFNγ (interferon γ) sensitizes IMR-32 cells to TRAIL. Moreover, pretreatment with etoposide increased TRAIL-induced apoptosis in caspase 8 restored IMR-32 cells through activation of a caspase cascade that included caspases 8, 9 and 3. These results indicate that the etoposide-mediated sensitization of neuroblastoma cells to TRAIL is associated with an increase in TRAIL-R2 expression and requires caspase 8 expression. These observations support the potential use of a combination of etoposide and TRAIL in future clinical trials.
doi:10.1042/CBR20110008
PMCID: PMC3475444  PMID: 23124518
caspase 8; death receptor; etoposide; inferferon γ; mitochondrial cascade; TRAIL; AzaC, 5-aza-2′ deoxycytidine; BCA, bicinchoninic acid; DD, death domain; DcR, decoy receptor; DR5, death receptor 5; FADD, Fas-associated death domain; FBS, fetal bovine serum; IFNγ, interferon γ; NF-κB, nuclear factor κB; PARP, poly(ADP-ribose) polymerase; TNF, tumour necrosis factor; TRAIL, TNF-related apoptosis-inducing ligand
12.  The antiemetic effect of midazolam or/and ondansetron added to intravenous patient controlled analgesia in patients of pelviscopic surgery 
Korean Journal of Anesthesiology  2012;62(4):343-349.
Background
We made a comparative study on the antiemetic effect of midazolam and ondansetron added to intravenous patient-controlled analgesia (PCA) using fentanyl with gynecologic patients undergoing pelviscopic surgery.
Methods
The PCA using 20 µg/kg of fentanyl was started in all groups postoperatively. A dose of 16 mg of ondansetron was added to the PCA of group O (n = 30). A dose of 5 mg of midazolam was added to the PCA of group M (n = 30). While 16 mg of ondansetron and 5 mg of midazolam were added to the PCA of group MO (n = 30). Total volume of the PCA was 60 ml, and the PCA system was programmed to deliver 0.5 ml/h of continuous doses and a 0.5 ml bolus on demand, with a 15 minutes lockout interval. The incidence of postoperative nausea and vomiting (PONV), sedation score, visual analog scale (VAS) for pain, and rescue drug dose for PONV were investigated at the postanesthesia care unit (PACU), 6 hours, and 24 hours after recovery.
Results
The incidence of PONV in group MO was significantly lower than in group O at PACU, 24 hours after recovery (P < 0.05). The sedation score and VAS pain score showed no differences among all groups.
Conclusions
Midazolam added to PCA using fentanyl proved more effective than ondansetron in preventing PONV without adverse effects.
doi:10.4097/kjae.2012.62.4.343
PMCID: PMC3337381  PMID: 22558501
Midazolam; Ondansetron; Patient-controlled analgesia; Postoperative nausea and vomiting
13.  Acute Pulmonary Toxicity and Body Distribution of Inhaled Metallic Silver Nanoparticles 
Toxicological Research  2012;28(1):25-31.
The purpose of this study was to determine the acute pulmonary toxicity of metallic silver nanoparticles (MSNPs, 20.30 nm in diameter). Acute pulmonary toxicity and body distribution of inhaled MSNPs in mice were evaluated using a nose-only exposure chamber (NOEC) system. Bronchoalveolar lavage (BAL) fluid analysis, Western blotting, histopathological changes, and silver burdens in various organs were determined in mice. Mice were exposed to MSNPs for 6 hrs. The mean concentration, total surface area, volume and mass concentrations in the NOEC were maintained at 1.93 × 107 particles/cm3, 1.09 × 1010 nm2/cm3, 2.72 × 1011 nm3/cm3, and 2854.62 μg/m3, respectively. Inhalation of MSPNs caused mild pulmonary toxicity with distribution of silver in various organs but the silver burdens decreased rapidly at 24-hrs post-exposure in the lung. Furthermore, inhaled MSNPs induced activation of mitogen-activated protein kinase (MAPK) signaling in the lung. In summary, single inhaled MSNPs caused mild pulmonary toxicity, which was associated with activated MAPK signaling. Taken together, our results suggest that the inhalation toxicity of MSNPs should be carefully considered at the molecular level.
doi:10.5487/TR.2012.28.1.025
PMCID: PMC3834404  PMID: 24278586
Inhalation; Silver nanoparticles; Pulmonary toxicity; Distribution; Mitogen-activated protein kinase
14.  Outbreak of Sudden Cardiac Deaths in a Tire Manufacturing Facility: Can It Be Caused by Nanoparticles? 
Safety and Health at Work  2012;3(1):58-66.
Objectives
The purpose of this study was to review clinical characteristics and working environments of sudden cardiac death (SCD) cases associated with a tire manufacturer in Korea, and review possible occupational risk factors for cardiovascular disease including nanoparticles (ultrafine particles, UFPs).
Methods
We reviewed (i) the clinical course of SCD cases and (ii) occupational and non-occupational risk factors including chemicals, the physical work environment, and job characteristics.
Results
Possible occupational factors were chemicals, UFPs of rubber fume, a hot environment, shift work, overworking, and noise exposure. The mean diameter of rubber fume (63-73 nm) was (larger than diesel exhaust [12 nm] and outdoor dust [50 nm]). The concentration of carbon disulfide, carbon monoxide and styrene were lower than the limit of detection. Five SCD cases were exposed to shift work and overworking. Most of the cases had several non-occupational factors such as hypertension, overweight and smoking.
Conclusion
The diameter of rubber fume was larger than outdoor and the diesel exhaust, the most well known particulate having a causal relationship with cardiovascular disease. The possibility of a causal relation between UFPs of rubber fume and SCD was not supported in this study. However, it is necessary to continue studying the relationship between large sized UFPs and SCD.
doi:10.5491/SHAW.2012.3.1.58
PMCID: PMC3430920  PMID: 22953232
Cardiac arrest; Rubber; Nanoparticles; Heat stress disorder; Shift work
15.  Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy 
Journal of Korean Medical Science  2011;26(9):1244-1246.
Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral palsy or spastic diplegia due to phenotypic variation. Here we report a young woman with DRD who were severely disabled and misdiagnosed as cerebral palsy for over 10 yr. A small dose of levodopa restored wheelchair-bound state to normality. However, thoracolumbar scoliosis has remained as a sequel due to late detection of DRD. Genetic analysis by using PCR-direct sequencing revealed a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GTP cyclohydrolase 1 (GCH1) gene. Although it is known that DRD can be misdiagnosed as cerebral palsy, this case reinforces the importance of differential diagnosis of DRD from cerebral palsy.
doi:10.3346/jkms.2011.26.9.1244
PMCID: PMC3172666  PMID: 21935284
Dystonia, Dopa-responsive; GCH1 Gene; Mutation; Cerebral Palsy; Diagnostic Errors
16.  SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia 
Background and Purpose
Progressive external ophthalmoplegia (PEO) with Mendelian inheritance is a heterogeneous group of diseases associated with multiple deletions of mitochondrial DNA (mtDNA), which results from the disturbed replication and maintenance of mtDNA secondary to the mutations of nuclear genes including POLG, SLC25A4, C10ORF2, POLG2, OPA1, and RRM2B. The aim of this study was to identify the genetic defects underlying the pathology and clinical features in two Korean kindreds with autosomal dominant PEO.
Methods
Two pathologically proven PEO patients with a clear autosomal dominant pattern of inheritance were selected. To exclude a large-scale rearrangement, a long-range polymerase chain reaction (PCR) was performed using DNA extracted from biopsied muscle tissue taken from each patient. All coding regions and exon-intron boundaries of POLG, SLC25A4, C10ORF2, and POLG2 were amplified by PCR and directly sequenced.
Results
One patient showed multiple deletions of mtDNA on long-range PCR analysis, and two known heterozygous missense mutations in SLC25A4 (p.Asp104Gly) and C10ORF2 (p.Glu479Lys) were identified in each patient. The p.Asp104Gly mutation in SLC25A4 was identified in the patient with an early onset, slowly progressive, pure PEO phenotype, while the p.Glu479Lys mutation in C10ORF2 was identified in the other patient, with a late-onset disease and PEO plus phenotype.
Conclusions
Two mutations affecting nuclear genes were identified in Korean patients with autosomal dominant PEO. Further studies are necessary to identify the clear pathogenetic mechanisms and establish genotype-phenotype correlations in autosomal dominant PEO.
doi:10.3988/jcn.2011.7.1.25
PMCID: PMC3079156  PMID: 21519523
autosomal dominant trait; progressive external ophthalmoplegia; mutation; SLC25A4; C10ORF2
17.  Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita 
Journal of Korean Medical Science  2009;24(6):1038-1044.
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine different point mutations. Of these, six (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, and p.M609K) were novel and could be unique among Koreans. While some features including predominant lower extremity involvement and normal to slightly elevated creatine kinase levels were consistently observed, general clinical features were highly variable in terms of age of onset, clinical severity, aggravating factors, and response to treatment. Our study is the first systematic study of MC in Korea, and shows its expanding clinical and genetic spectrums.
doi:10.3346/jkms.2009.24.6.1038
PMCID: PMC2775849  PMID: 19949657
Myotonia Congenita; CLCN1; Clinical Features
18.  Differential Immunohistological Features of Inflammatory Myopathies and Dysferlinopathy 
Journal of Korean Medical Science  2009;24(6):1015-1023.
This study was performed in order to characterize the types of the infiltrating cells, and the expression profiles of major histocompatibility complex (MHC) class I and membrane attack complex (MAC) in patients with inflammatory myopathies and dysferlinopathy. Immunohistochemical stains were performed using monoclonal antibodies against several inflammatory cell types, MHC class I, and MAC in muscles from inflammatory myopathies and dysferlinopathy. There was significant difference in the types of infiltrating cells between polymyositis (PM), dermatomyositis (DM), and dysferlinopathy, including significantly high CD4+/CD8+ T cell ratio and B/T cell ratio in DM. In dysferlinopathy, CD4+ T cells were the most abundant and the proportions of infiltrating cell types were similar to those of DM. MHC class I was expressed in muscle fibers of PM and DM regardless of the presence of inflammatory infiltrates. MAC was expressed in necrotic fibers and vessels of PM and DM. One patient with early stage DM had a MAC deposits on endomysial capillaries. In dysferlinopathy, MAC deposit was also observed on the sarcolemma of nonnecrotic fibers. The analysis of inflammatory cells, MHC class I expressions and MAC deposits may help to differentiate dysferlinopathy from idiopathic inflammatory myopathy.
doi:10.3346/jkms.2009.24.6.1015
PMCID: PMC2775846  PMID: 19949654
Polymyositis; Dermatomyositis; Muscular Dystrophies; Major Histocompatibility Complex Class I; Complement Membrane Attack Complex
19.  Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy 
Background and Purpose
Mutations of the skeletal muscle sodium channel gene SCN4A, which is located on chromosome 17q23-25, are associated with various neuromuscular disorders that are labeled collectively as skeletal muscle sodium channelopathy. These disorders include hyperkalemic periodic paralysis (HYPP), hypokalemic periodic paralysis, paramyotonia congenita (PMC), potassium-aggravated myotonia, and congenital myasthenic syndrome. This study analyzed the clinical and mutational spectra of skeletal muscle sodium channelopathy in Korean subjects.
Methods
Six unrelated Korean patients with periodic paralysis or nondystrophic myotonia associated with SCN4A mutations were included in the study. For the mutational analysis of SCN4A, we performed a full sequence analysis of the gene using the patients' DNA. We also analyzed the patients' clinical history, physical findings, laboratory tests, and responses to treatment.
Results
We identified four different mutations (one of which was novel) in all of the patients examined. The novel heterozygous missense mutation, p.R225W, was found in one patient with mild nonpainful myotonia. Our patients exhibited various clinical phenotypes: pure myotonia in four, and PMC in one, and HYPP in one. The four patients with pure myotonia were initially diagnosed as having myotonia congenita (MC), but a previous analysis revealed no CLCN1 mutation.
Conclusions
Clinical differentiating between sodium-channel myotonia (SCM) and MC is not easy, and it is suggested that a mutational analysis of both SCN4A and CLCN1 is essential for the differential diagnosis of SCM and MC.
doi:10.3988/jcn.2009.5.4.186
PMCID: PMC2806541  PMID: 20076800
Wordsaamyotonic disorders; familial periodic paralyses; SCN4A
20.  CCR2-64I and CCR5Δ32 Polymorphisms in Korean Patients with Myasthenia Gravis 
Background and purpose
Chemokines participate in the regulation of immune and inflammatory responses by interacting with their receptors, which are primarily expressed on immune and inflammatory cells such as B- and T-lymphocytes and antigen-presenting cells. Chemokines and their receptors are therefore considered to mediate inflammation and tissue damage in autoimmune disorders. Chemokine receptor (CCR) genotypes were recently identified, and the importance of their genetic polymorphisms in some autoimmune and infectious disorders has been demonstrated. To define the roles of the polymorphism of the CCR2 gene at codon 64 (CCR2-64I) and the 32-bp deletion in the coding region of CCR5 (CCR5Δ32) in Korean patients with myasthenia gravis (MG), we compared these genotypes in MG cases and healthy controls and investigated the clinical features associated with these genotypes.
Methods
One hundred and fifteen healthy controls (51 men and 64 women) and 109 MG patients (44 men and 65 women) from three University hospitals were included. We examined each patient for clinical features using electrophysiology tests, laboratory tests, and thymic pathology. The CCR2-64I and CCR5Δ32 polymorphisms were determined by the PCR-RFLP method.
Results
We detected no difference in the frequencies of CCR2-64I polymorphism between MG patients and healthy controls. All of the MG patients and the healthy controls were homozygous for the wild-type CCR5 genotype. The results of electrophysiological tests and thymic pathologies were not influenced by the type of CCR2-64I polymorphism. However, the anti-acetylcholine-receptor (AChR) antibody titer was higher in the CCR2 G/G genotype (13.34±12.71 nmol/L) than in the CCR2 A/A genotype (5.83±2.56 nmol/L).
Conclusions
We found no evidence of an increased risk for MG associated with the CCR2-64I and CCR5Δ32 polymorphisms. However, the increased anti-AChR antibody titer in the patients with the CCR2 G/G genotype suggests that the CCR2 gene play a role in the pathophysiology of MG.
doi:10.3988/jcn.2007.3.3.133
PMCID: PMC2686848  PMID: 19513280
Myasthenia gravis; Chemokine receptor; CCR2-64I; CCR5Δ32; Anti-AChR antibody titer
21.  A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. 
Journal of Korean Medical Science  2002;17(6):856-860.
A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia, and intermittent muscle weakness since childhood. The serum level of creatine kinase was mildly elevated and short exercise test with cooling revealed a drastic reduction of compound muscle action potentials with repetitive discharges. Muscle biopsy revealed marked variation in the fiber size and increased internal nuclei. The molecular biological study revealed a common missense mutation (Arg1448Cys) at the voltage-gated sodium channel gene (SCN4A). The repetitive CMAP discharges during short exercise test with cooling observed in the proband has not been reported previously. This observation needs to be confirmed among PC patients with different mutations. This is the first report on a PC family confirmed by the molecular biological technique in Korea.
PMCID: PMC3054970  PMID: 12483017
22.  Histochemical and molecular genetic study of MELAS and MERRF in Korean patients. 
Journal of Korean Medical Science  2002;17(1):103-112.
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode (MELAS) and myoclonic epilepsy and ragged-red fibers (MERRF) are rare disorders caused by point mutation of the tRNA gene of the mitochondrial genome. To understand the pathogenetic mechanism of MELAS and MERRF, we studied four patients. Serially sectioned frozen muscle specimens with a battery of histochemical stains were reviewed under light microscope and ultrastructural changes were observed under electron microscope. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was performed and the tRNA genes were sequenced to confirm mutations. In two patients with MELAS, strongly succinyl dehydrogenase positive blood vessels (SSVs) and many cytochrome oxidase (COX) positive ragged-red fibers (RRFs) were observed, and A3243G mutations were found from the muscle samples. In two patients with MERRF, neither SSV nor COX positive RRFs were seen and A8344G mutations were found from both muscle and blood samples. In the two MERRF families, the identical mutation was observed among family members. The failure to detect the mutation in blood samples of the MELAS suggests a low mutant load in blood cells. The histochemical methods including COX stain are useful for the confirmation and differentiation of mitochondrial diseases. Also, molecular biological study using muscle sample seems essential for the confirmation of the mtDNA mutation.
PMCID: PMC3054831  PMID: 11850598
23.  Acute Cerebral Phaeohyphomycosis due to Wangiella dermatitidis Accompanied by Cerebrospinal Fluid Eosinophilia 
Journal of Clinical Microbiology  2000;38(5):1965-1966.
We report a case of cerebral phaeohyphomycosis due to Wangiella dermaitidis in an immunocompetent adult man. His cerebrospinal fluid (CSF) showed pleocytosis with a high eosinophil count but without peripheral blood eosinophilia. The present case suggested that this black yeast-like fungus should be included when the causes of CSF eosinophilia are considered, even though it is an extremely rare pathogen.
PMCID: PMC86635  PMID: 10790129
25.  Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication 
Background and Purpose
Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients.
Methods
We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale.
Results
Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls.
Conclusions
In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.
doi:10.3988/jcn.2012.8.2.139
PMCID: PMC3391619  PMID: 22787498
charcot-marie-tooth disease; CMT1A; compound muscle action potential; duplication; nerve conduction velocity; sensory nerve action potential

Results 1-25 (25)