1.Clinical and Genetic Features of Korean Inherited Arrhythmia Probands
Joo Hee JEONG ; Suk-Kyu OH ; Yun Gi KIM ; Yun Young CHOI ; Hyoung Seok LEE ; Jaemin SHIM ; Yae Min PARK ; Jun-Hyung KIM ; Yong-Seog OH ; Nam-Ho KIM ; Hui-Nam PAK ; Young Keun ON ; Hyung Wook PARK ; Gyo-Seung HWANG ; Dae-Kyeong KIM ; Young-Ah PARK ; Hyoung-Seob PARK ; Yongkeun CHO ; Seil OH ; Jong-Il CHOI ; Young-Hoon KIM
Korean Circulation Journal 2023;53(10):693-707
Background and Objectives:
Inherited arrhythmia (IA) is a more common cause of sudden cardiac death in Asian population, but little is known about the genetic background of Asian IA probands. We aimed to investigate the clinical characteristics and analyze the genetic underpinnings of IA in a Korean cohort.
Methods:
This study was conducted in a multicenter cohort of the Korean IA Registry from 2014 to 2017. Genetic testing was performed using a next-generation sequencing panel including 174 causative genes of cardiovascular disease.
Results:
Among the 265 IA probands, idiopathic ventricular fibrillation (IVF) and Brugada Syndrome (BrS) was the most prevalent diseases (96 and 95 cases respectively), followed by long QT syndrome (LQTS, n=54). Two-hundred-sixteen probands underwent genetic testing, and 69 probands (31.9%) were detected with genetic variant, with yield of pathogenic or likely pathogenic variant as 6.4%. Left ventricular ejection fraction was significantly lower in genotype positive probands (54.7±11.3 vs. 59.3±9.2%, p=0.005). IVF probands showed highest yield of positive genotype (54.0%), followed by LQTS (23.8%), and BrS (19.5%).
Conclusions
There were significant differences in clinical characteristics and genetic yields among BrS, LQTS, and IVF. Genetic testing did not provide better yield for BrS and LQTS. On the other hand, in IVF, genetic testing using multiple gene panel might enable the molecular diagnosis of concealed genotype, which may alter future clinical diagnosis and management strategies.
2.Subaxial Cervical Pedicle Screw in Traumatic Spinal Surgery
Yoon Gyo JUNG ; Subum LEE ; Seong Kyun JEONG ; Myeongjong KIM ; Jin Hoon PARK
Korean Journal of Neurotrauma 2020;16(1):18-27
In cases of unstable cervical traumatic lesions, the biomechanical superiority of the cervical pedicle screw (CPS) allows the lesion to be stabilized effectively. In this study, we review and summarize the indications, technical guidelines, and potential neurovascular complications and their prevention of the use of the CPS for trauma. For patients with fractured lamina or lateral mass, a CPS is reliable for stabilization. In addition, the CPS can penetrate through a linear cervical spinal pedicle fracture gap and could stabilize three-column injury. CPS reduce the range of surgical approach and preserve the motion segment using short-segment fixation. Fluoroscopy-guided CPS insertion is popular and cost-effective. Image-guided navigation systems improve accuracy. Three-dimensional template-guided CPS placement is simple to use. Most spine surgeons can perform laminoforaminotomy easily. Freehand technique that can be performed quickly without heavy equipment is suitable for emergency situation. Possible complications due to screw misplacement are vertebral artery injury owing to a laterally misplaced screw, dural sac or spinal cord injury from a medially misplaced screw, and nerve root injury caused by a superiorly or inferiorly misplaced screw. To prevent neurovascular complications, meticulous preoperative anatomical evaluation and following the five steps are most important.
3.Quality of Anticoagulation and Treatment Satisfaction in Patients with Non-Valvular Atrial Fibrillation Treated with Vitamin K Antagonist: Result from the KORean Atrial Fibrillation Investigation II.
Seil OH ; June Soo KIM ; Yong Seog OH ; Dong Gu SHIN ; Hui Nam PAK ; Gyo Seung HWANG ; Kee Joon CHOI ; Jin Bae KIM ; Man Young LEE ; Hyung Wook PARK ; Dae Kyeong KIM ; Eun Sun JIN ; Jaeseok PARK ; Il Young OH ; Dae Hee SHIN ; Hyoung Seob PARK ; Jun Hyung KIM ; Nam Ho KIM ; Min Soo AHN ; Bo Jeong SEO ; Young Joo KIM ; Seongsik KANG ; Juneyoung LEE ; Young Hoon KIM
Journal of Korean Medical Science 2018;33(49):e323-
BACKGROUND: Vitamin K antagonist (VKA) to prevent thromboembolism in non-valvular atrial fibrillation (NVAF) patients has limitations such as drug interaction. This study investigated the clinical characteristics of Korean patients treated with VKA for stroke prevention and assessed quality of VKA therapy and treatment satisfaction. METHODS: We conducted a multicenter, prospective, non-interventional study. Patients with CHADS2 ≥ 1 and treated with VKA (started within the last 3 months) were enrolled from April 2013 to March 2014. Demographic and clinical features including risk factors of stroke and VKA treatment information was collected at baseline. Treatment patterns and international normalized ratio (INR) level were evaluated during follow-up. Time in therapeutic range (TTR) > 60% indicated well-controlled INR. Treatment satisfaction on the VKA use was measured by Treatment Satisfaction Questionnaire for Medication (TSQM) after 3 months of follow-up. RESULTS: A total of 877 patients (age, 67; male, 60%) were enrolled and followed up for one year. More than half of patients (56%) had CHADS2 ≥ 2 and 83.6% had CHA2DS2-VASc ≥ 2. A total of 852 patients had one or more INR measurement during their follow-up period. Among those patients, 25.5% discontinued VKA treatment during follow-up. Of all patients, 626 patients (73%) had poor-controlled INR (TTR < 60%) measure. Patients' treatment satisfaction measured with TSQM was 55.6 in global satisfaction domain. CONCLUSION: INR was poorly controlled in Korean NVAF patients treated with VKA. VKA users also showed low treatment satisfaction.
Atrial Fibrillation*
;
Drug Interactions
;
Follow-Up Studies
;
Humans
;
International Normalized Ratio
;
Male
;
Prospective Studies
;
Risk Factors
;
Stroke
;
Thromboembolism
;
Vitamin K*
;
Vitamins*
4.Allergic Reaction to Meperidine in a Patient with Aspirin Idiosyncrasy.
Min Gyo SEO ; Tae Hoon NO ; Heui Jeong JEONG ; Young Wan KIM ; Young Han KIM ; Jae Won JUNG ; Chan Sun PARK
Korean Journal of Medicine 2015;88(6):732-736
Although narcotic analgesics are potent releasers of histamine, IgE-mediated allergic reactions to these drugs are rare. Here we report the case of a 56-year-old male who suffered from chronic urticarial and analgesics-induced skin rashes. He visited our allergy clinic to determine alternative analgesics before undergoing surgery. A drug provocation test showed a positive reaction to aspirin, but negative reactions to acetaminophen and celecoxib. Despite careful attention to his drug regimen, during surgery he developed generalized urticaria and flushing. Skin tests of allergy to latex, lidocaine, propofol, rocuronium, flomoxef, meperidine, palonosetron, pyridostigmine, and fentanyl yielded negative results, except for the prick and intradermal tests with meperidine. Thus, this patient had both an aspirin/non-steroidal anti-inflammatory drugs idiosyncrasy and an IgE-mediated hypersensitivity to meperidine.
Acetaminophen
;
Analgesics
;
Aspirin*
;
Exanthema
;
Fentanyl
;
Flushing
;
Histamine
;
Humans
;
Hypersensitivity*
;
Hypersensitivity, Immediate
;
Intradermal Tests
;
Latex
;
Lidocaine
;
Male
;
Meperidine*
;
Middle Aged
;
Narcotics
;
Propofol
;
Pyridostigmine Bromide
;
Skin Tests
;
Urticaria
;
Celecoxib
5.Mechanism of VanB Phenotype in Vancomycin-Resistant Enterococci carrying vanA gene.
Il Joong PARK ; Wee Gyo LEE ; Hyukmin LEE ; Dongeun YONG ; Kyungwon LEE ; Eui Chong KIM ; Seok Hoon JEONG ; Yeon Jun PARK ; Tae Yeal CHOI ; Young UH ; Jong Hee SHIN ; Jongwook LEE ; Ji young AHN ; Sung Hee LEE ; Gun Jo WOO
The Korean Journal of Laboratory Medicine 2006;26(6):412-417
BACKGROUND: Recently, vancomycin-resistant enterococci (VRE) with the vanA genotype that are susceptible to teicoplanin have been described in Japan, Taiwan, and Korea. The investigators suggested three point mutations in the putative sensor domain of vanS or impairment of accessory proteins VanY and VanZ as an explanation for the VanB phenotype-vanA genotype VRE. In this study, we analyzed Tn1546-like elements to determine the molecular mechanisms responsible for the impaired glycopeptide resistance of clinical VRE isolates with VanB phenotype-vanA genotype from Korea. METHODS: From 2001 to 2004, 28 clinical isolates of Enterococcus faecium with VanB phenotypevanA genotype were collected from 8 different university hospitals in diverse geographic areas in Korea. For structural analysis of Tn1546-like elements, PCR amplifications for internal regions of Tn1546 were performed. The purified PCR products were directly sequenced with an ABI Prism 3100 DNA sequencer. RESULTS: The sequence data of the vanS regulatory gene revealed that none of the isolates had any point mutations in this gene. All 28 isolates had a complete or incomplete deletion of vanY gene. Of these, 13 strains represented a complete deletion of vanZ, and 2 strains showed the deletion of nucleotides near the end point of vanX. CONCLUSIONS: The mechanism of VanB phenotype-vanA genotype in VRE isolates from Korea is not point mutations of vanS but the rearrangements of vanX, vanY and vanZ.
DNA
;
Enterococcus faecium
;
Genes, Regulator
;
Genotype
;
Hospitals, University
;
Humans
;
Japan
;
Korea
;
Nucleotides
;
Phenotype*
;
Point Mutation
;
Polymerase Chain Reaction
;
Research Personnel
;
Taiwan
;
Teicoplanin
6.Emergence of CTX-M-12 and A Novel CTX-M Type Extended-Spectrum beta-Lactamaseproducing Klebsiella pneumoniae.
Il Kwon BAE ; Seok Hoon JEONG ; Kyungwon LEE ; Dongeun YONG ; Jongwook LEE ; Seong Geun HONG ; Eui Chong KIM ; Yeon Jun PARK ; Jung Oak KANG ; Young UH ; Jong Hee SHIN ; Wee Gyo LEE ; Ji young AHN ; Sung Hee LEE ; Gun Jo WOO ; Hyo Sun KWAK
The Korean Journal of Laboratory Medicine 2006;26(1):21-26
BACKGROUND: The aims of this study were to survey the nation-wide susceptibilities of Klebsiella pneumoniae isolates against ceftazidime and cefotaxime and to determine the prevalence of class A extended-spectrum beta-lactamases (ESBLs). METHODS: During the period of February to July 2004, K. pneumoniae isolates intermediate or resistant to ceftazidime and/or cefotaxime were collected from 12 hospitals in Korea. Antimicrobial susceptibilities were determined by the disk diffusion and the agar dilution methods and ESBL-production was by double-disk synergy test. Ceftazidime or cefotaxime-resistance determinants of the ESBLproducers were transfered to Escherichia coli J53 by transconjugation. Searches for class A ESBL genes were performed by PCR amplication. RESULTS: Among 212 clinical K. pneumoniae isolates, 172 (81%) isolates showed positive results in double-disk synergy test; the most prevalent ESBL was SHV-12 (n=104). Genes encoding ESBLs including SHV-2 (n=6), SHV-2a (n=17), CTX-M-3 (n=18), CTX-M-9 (n=6), CTX-M-12 (n=1), CTX-M- 14 (n=27), CTX-M-15 (n=3), and a novel CTX-M-type beta-lactamases were also detected. CONCLUSIONS: It is concluded that diversity of ESBLs in K. pneumoniae isolates are increasing in Korea. CTX-M-12 has never been reported in Asia, and a novel CTX-M-type ESBL has emerged.
Agar
;
Asia
;
beta-Lactamases
;
Cefotaxime
;
Ceftazidime
;
Diffusion
;
Escherichia coli
;
Klebsiella pneumoniae*
;
Klebsiella*
;
Korea
;
Pneumonia
;
Polymerase Chain Reaction
;
Prevalence
7.Emergence of CTX-M-12, PER-1 and OXA-30 beta-Lactamase-Producing Klebsiella pneumoniae.
Il Kwon BAE ; Yu Nae LEE ; Seok Hoon JEONG ; Kyungwon LEE ; Dongeun YONG ; Jongwook LEE ; Seong Geun HONG ; Eui Chong KIM ; Yeon Jun PARK ; Tae Yeal CHOI ; Young UH ; Jong Hee SHIN ; Wee Gyo LEE ; Ji Young AHN ; Sung Hee LEE ; Gun Jo WOO ; Hyo Sun KWAK
Korean Journal of Clinical Microbiology 2006;9(2):102-109
BACKGROUND: The aim of this study was to determine a nation-wide prevalence of Ambler class A and D extended-spectrum-lactamases (ESBL) in Klebsiella pneumoniae isolates in Korea. METHODS: During the period of April to May 2005, 189 isolates of K.pneumoniae were collected from 11 Korean hospitals. Antimicrobial susceptibilities to ceftazidime and cefotaxime were tested by the disk diffusion method, and ESBL production was determined by double-disk synergy test. Determinants of ceftazidime or cefotaxime-resistance were transferred to Escherichia coli J53 (azide-resistant) by transconjugation. Genotypes of class A and D ESBL genes were determined by PCR amplification and sequencing. RESULTS: One hundred-sixty isolates of K.pneumoniae showed positive results in double-disk synergy test. The most prevalent ESBL was SHV-12 (n=148). Also detected were genes encoding ESBLs including TEM-52 (n=1), SHV-2a (n=2), CTX-M-3 (n=15), CTX-M-9 (n=6), CTX-M-12 (n=2), CTX-M-14 (n=9), CTX-M-15 (n=1), PER-1 (n=1), GES-5 (n=3), and OXA-30 (n=2) beta-lactamases. CONCLUSION: With the emergence of CTX-M-12, PER-1, and OXA-30 beta-lactamases, the ESBLs in K.pneumoniae isolates are becoming more diverse in Korea.
beta-Lactamases
;
Cefotaxime
;
Ceftazidime
;
Diffusion
;
Escherichia coli
;
Genotype
;
Klebsiella pneumoniae*
;
Klebsiella*
;
Korea
;
Polymerase Chain Reaction
;
Prevalence
8.Dissemination of CTX-M Type Extended-Spectrum beta-Lactamases and Emergence of CTX-M-12 in Escherichia coli.
Chi Eun OH ; Jong Sik HONG ; Il Kwon BAE ; Eun Hyang SONG ; Seok Hoon JEONG ; Kyung Won LEE ; Dong Eun YONG ; Jong Wook LEE ; Wee Gyo LEE ; Jung Oak KANG ; Ji Young AHN ; Seong Geun HONG ; Jong Hee SHIN ; Young UH ; Yeon Jun PARK ; Eui Chong KIM ; Hyo Sun KWAK ; Gun Jo WOO
The Korean Journal of Laboratory Medicine 2005;25(4):252-258
BACKGROUND: Clinical isolates of Escherichia coli were evaluated to determine the prevalence and genotypes of Ambler class A extended-spectrum beta -lactamases (ESBLs). METHODS: Clinical isolates of E. coli were collected from 12 hospitals from February through July, 2004. Antimicrobial susceptibility was tested by disk diffusion and agar dilution methods, and ESBLproduction was determined by double-disk synergy test. TEM, SHV, CTX-M, PER-1, VEB, IBC, GES, and TLA type ESBL genes were detected by PCR amplifications, and the PCR products were subjected to direct sequencing. RESULTS: The double-disk synergy test was positive in 90.9% (149 in 164) of the ceftazidime- or cefotaxime-resistant E. coli isolates. The most prevalent types of Ambler class A ESBLs in E. coliisolates were CTX-M-15 (n=53). CTX-M-14 (n=24), CTX-M-3 (n=9), CTX-M-9 (n=3), CTX-M-12 (n=3), SHV-2a (n=1), SHV-12 (n=5) and TEM-52 (n=3) were also found. CTX-M-12 ESBL had never been reported before in Korea. CONCLUSIONS: CTX-M type ESBL-producing E. coli isolates are spreading and CTX-M-12 is emerging in Korea.
Agar
;
beta-Lactamases*
;
Diffusion
;
Escherichia coli*
;
Genotype
;
Korea
;
Polymerase Chain Reaction
;
Prevalence
9.Prevalence of Ambler Class A Extended-Spectrum beta-Lactamase-Producing Escherichia coli and Klebsiella pneumoniae Isolates in Korea.
Ji Hae KANG ; Il Kwon BAE ; Su Bong KWON ; Seok Hoon JEONG ; Jongwook LEE ; Wee Gyo LEE ; Jung Oak KANG ; Ji Young AHN ; Seong Geun HONG ; Jong Hee SHIN ; Young UH ; Yeon Jun PARK ; Eui Chong KIM ; Kyungwon LEE ; Dongeun YONG ; Gun Jo WOO
Korean Journal of Clinical Microbiology 2005;8(1):17-25
BACKGROUND: The aim of this study is to determine the nationwide prevalence of Ambler class A extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli and Klebsiella pneumoniae and to characterize genotypes of ESBLs. METHODS: During the period of February through July, 2003, E.coli and K.pneumoniae isolates were collected from 12 hospitals in Korea. Antimicrobial susceptibilities were tested by disk diffusion method, and ESBL-production was determined by the double-disk synergy test. MICs of beta-lactam antibiotics were tested by agar dilution method. Searches for bla TEM, bla SHV, bla CTX-M, bla PER-1, bla VEB, bla IBC, bla GES and bla TLA genes were performed by PCR amplification, and the genotypes of ESBLs were determined by direct nucleotide sequence analysis of amplified products. RESULTS: Resistance rates of E.coli (n=246) and K.pneumoniae (n=239) isolates to ceftazidime were 8.5% and 20.1%, respectively. Most prevalent Ambler class A ESBL genotypes in E.coli isolates were bla CTX-M-15 (n=4) and bla CTX-M-3 (n=3), and each of bla CTX-M-14, bla SHV-12, and bla TEM-52 gene was also found in one isolate. Most prevalent ESBL genotypes in K.pneumoniae were bla SHV-12 (n=30) and bla CTX-M-3 (n=13), and bla CTX-M-14 (n=5). bla SHV-2a (n=3), bla SHV-5 (n=2), bla TEM-52 (n=1), bla GES-3 (n=2) genes were also found. CONCLUSION: CTX-M-type ESBL-producing E.coli and K.pneumoniae isolates are spreading, and a GES-type ESBL has emerged in Korea.
Agar
;
Anti-Bacterial Agents
;
Base Sequence
;
beta-Lactamases
;
Ceftazidime
;
Diffusion
;
Escherichia coli*
;
Escherichia*
;
Genotype
;
Klebsiella pneumoniae*
;
Klebsiella*
;
Korea*
;
Polymerase Chain Reaction
;
Prevalence*
10.Expression of beta-catenin and Adenomatous Polyposis Coli(APC) Protein in Squamous Cell Carcinoma of the Laryngeal Cancers.
Hoon PARK ; Hyo Jin KIM ; Jin Gyo PARK ; Dong Wook KIM ; Byung Don LEE ; Hyuck Soon CHANG
Korean Journal of Otolaryngology - Head and Neck Surgery 2005;48(3):352-356
BACKGROUND AND OBJECTIVES: beta-catenin has an essential role in intercellular adhesion and signal transduction. The Adenomatous poliposis coli (APC) protein interacts with beta-catenin in a multi-protein complex to regulate the level of expression of beta-catenin. Mutations in beta-catenin or APC gene can lead to the accumulation of beta-catenin in the cytosol and the nucleus. This study was designed to investigate the expression of APC and beta-catenin in laryngeal cancer. SUBJECTS AND METHOD: Immunohistochemical methods were used to determine the beta-catenin and APC protein expression in 15 laryngeal cancers. Results were correlated with clinicopathological parameters. RESULTS: beta-catenin expression to the plasma membrane was reduced or absent in 11 of 15 cases (73%) of the laryngeal cancers. Cytoplasmic expression of the beta-catenin was seen in 6 out of 15 cases (40%). APC immunoactivity was negative in 5 of 15 (33%) of the laryngeal cancers. One of the six cytoplasmic expressions of the beta-catenin was negative for APC immunoactivity, and one of the five negative for APC immunoactivity was cytoplasmic expression of the beta-catenin. CONCLUSION: There was no correlation between beta-catenin and APC protein in the analysis. This finding suggests that cytoplasmic expression of the beta-catenin resulted not from the APC mutation but from the beta-catenin mutation and abnormal Wnt signal. Only the expression of the beta-catenin in cytoplasm was associated with lymph node metastasis.
beta Catenin*
;
Carcinoma, Squamous Cell*
;
Cell Membrane
;
Cytoplasm
;
Cytosol
;
Genes, APC
;
Laryngeal Neoplasms*
;
Lymph Nodes
;
Neoplasm Metastasis
;
Signal Transduction

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