1.Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings
Jiyoung OH ; Jin-Sung LEE ; Moo Suk PARK ; Young Ae KANG ; Hyung-Ju CHO ; Song Yee KIM ; Jinsei JUNG ; Sun Och YOON ; Kyung Won KIM
Yonsei Medical Journal 2024;65(1):48-54
Purpose:
To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the Korean population.
Materials and Methods:
Forty-seven patients clinically suspected of having PCD were enrolled at a tertiary medical center. WES was performed in all patients, and seven patients received biopsy of cilia and transmission electron microscopy (TEM).
Results:
Overall, PCD was diagnosed in 10 (21.3%) patients: eight by WES (8/47, 17%), four by TEM. Among patients diagnosed as PCD based on TEM results, two patients showed consistent results with WES and TEM of PCD (2/4, 50%). In addition, five patients, who were not included in the final PCD diagnosis group, had variants of unknown significance in PCD-related genes (5/47, 10.6%).The most frequent pathogenic (P)/likely pathogenic (LP) variants were detected in DNAH11 (n=4, 21.1%), DRC1 (n=4, 21.1%), and DNAH5 (n=4, 21.1%). Among the detected 17 P/LP variants in PCD-related genes in this study, 8 (47.1%) were identified as novel variants. Regarding the genotype–phenotype correlation in this study, the authors experienced severe PCD cases caused by the LP/P variants in MCIDAS, DRC1, and CCDC39.
Conclusion
Through this study, we were able to confirm the value of WES as one of the diagnostic tools for PCD, which increases with TEM, rather than single gene tests. These results will prove useful to hospitals with limited access to PCD diagnostic testing but with relatively efficient in-house or outsourced access to genetic testing at a pre-symptomatic or early disease stage.
2.Four Times of Relapse of Plasmodium vivax Malaria Despite Primaquine Treatment in a Patient with Impaired Cytochrome P450 2D6 Function
Sungim CHOI ; Heun CHOI ; Seong Yeon PARK ; Yee Gyung KWAK ; Je Eun SONG ; So Youn SHIN ; Ji Hyeon BAEK ; Hyun-IL SHIN ; Hong Sang OH ; Yong Chan KIM ; Joon-Sup YEOM ; Jin-Hee HAN ; Min Jae KIM
The Korean Journal of Parasitology 2022;60(1):39-43
Plasmodium vivax exhibits dormant liver-stage parasites, called hypnozoites, which can cause relapse of malaria. The only drug currently used for eliminating hypnozoites is primaquine. The antimalarial properties of primaquine are dependent on the production of oxidized metabolites by the cytochrome P450 isoenzyme 2D6 (CYP2D6). Reduced primaquine metabolism may be related to P. vivax relapses. We describe a case of 4 episodes of recurrence of vivax malaria in a patient with decreased CYP2D6 function. The patient was 52-year-old male with body weight of 52 kg. He received total gastrectomy and splenectomy 7 months before the first episode and was under chemotherapy for the gastric cancer. The first episode occurred in March 2019 and each episode had intervals of 34, 41, and 97 days, respectively. At the first and second episodes, primaquine was administered as 15 mg for 14 days. The primaquine dose was increased with 30 mg for 14 days at the third and fourth episodes. Seven gene sequences of P. vivax were analyzed and revealed totally identical for all the 4 samples. The CYP2D6 genotype was analyzed and intermediate metabolizer phenotype with decreased function was identified.
3.Etiology, Characteristics, and Outcomes of Community-Onset Pyomyositis in Korea: A Multicenter Study
Tark KIM ; Seong Yeon PARK ; Yee Gyung KWAK ; Jiwon JUNG ; Min-Chul KIM ; Seong-Ho CHOI ; Shi Nae YU ; Hyo-Lim HONG ; Yong Kyun KIM ; Se Yoon PARK ; Eun Hee SONG ; Ki-Ho PARK ; Oh Hyun CHO ; Sang-Ho CHOI ; The Korean SSTI Study Group
Infection and Chemotherapy 2021;53(1):46-52
Background:
Pyomyositis (PM) is a serious soft tissue infection and despite its clinical importance, previous studies have not been able to fully determine the clinical characteristics and microbial epidemiology of PM in Korea, which we therefore aimed to investigate.
Materials and Methods:
We retrospectively identified 140 adult patients diagnosed with PM from 13 general hospitals between January 2012 and December 2015. We analyzed the clinical and microbial characteristics of community-onset PM and compared them with communityacquired (CA) and healthcare-associated (HCA) PM.
Results:
One hundred eleven organisms were isolated from 96 (68.6%) patients with PM.Staphylococcus aureus (38 patients) was the most common pathogen, followed by streptococci (24 patients), and enteric Gram-negative organisms (27 patients). Methicillin-resistant S.aureus (MRSA) was identified in four (2.9%) patients and in-hospital mortality reached 8.6% (12/140). Enterococci isolates were identified in the HCA PM subgroup only The proportion of MRSA isolates was not comparable between CA and HCA PM subgroups. In the 83 patients with PM infected by monomicrobial pathogens, isolates of Gram-negative organisms were more commonly found in HCA PM subgroup than in CA PM subgroup (47.6% [10/21] of patients with HCA PM vs. 20.7% [12/58] of patients with CA PM; P = 0.01).
Conclusion
Gram-positive cocci such as S. aureus and streptococci were dominant etiologies in community-onset PM, whereas MRSA appears to an uncommon causative organism of PM in Korea. Enteric Gram-negative organisms should also be considered as major etiologies, especially in HCA PM patient population in Korea.
4.Survey of Adverse Events After The First Dose of The ChAdOx1 nCoV-19 Vaccine:A Single-Center Experience in Korea
Je Eun SONG ; Gang-Bok OH ; Hye Kyeong PARK ; Sung-Soon LEE ; Yee Gyung KWAK
Infection and Chemotherapy 2021;53(3):557-561
Vaccination is an important strategy for controlling the coronavirus disease 2019 (COVID-19) pandemic. We conducted a web-based cross-sectional survey based on Google Forms to collect data on adverse events (AEs) after the first dose of the ChAdOx1 nCoV-19 vaccine for healthcare workers (HCWs). Among the 1,676 vaccinated HCWs, 59.5% (998/1,676) responded to the survey. In total, 809 (81.1%) respondents reported experiencing AEs. There were no serious AEs, such as anaphylaxis. The most common AE was pain at the injection site (76.2%), followed by fatigue (75.9%), myalgia (74.9%), and fever (58.4%). HCWs in the younger age group experienced significantly more AEs than in the older age group.
5.Etiology, Characteristics, and Outcomes of Community-Onset Pyomyositis in Korea: A Multicenter Study
Tark KIM ; Seong Yeon PARK ; Yee Gyung KWAK ; Jiwon JUNG ; Min-Chul KIM ; Seong-Ho CHOI ; Shi Nae YU ; Hyo-Lim HONG ; Yong Kyun KIM ; Se Yoon PARK ; Eun Hee SONG ; Ki-Ho PARK ; Oh Hyun CHO ; Sang-Ho CHOI ; The Korean SSTI Study Group
Infection and Chemotherapy 2021;53(1):46-52
Background:
Pyomyositis (PM) is a serious soft tissue infection and despite its clinical importance, previous studies have not been able to fully determine the clinical characteristics and microbial epidemiology of PM in Korea, which we therefore aimed to investigate.
Materials and Methods:
We retrospectively identified 140 adult patients diagnosed with PM from 13 general hospitals between January 2012 and December 2015. We analyzed the clinical and microbial characteristics of community-onset PM and compared them with communityacquired (CA) and healthcare-associated (HCA) PM.
Results:
One hundred eleven organisms were isolated from 96 (68.6%) patients with PM.Staphylococcus aureus (38 patients) was the most common pathogen, followed by streptococci (24 patients), and enteric Gram-negative organisms (27 patients). Methicillin-resistant S.aureus (MRSA) was identified in four (2.9%) patients and in-hospital mortality reached 8.6% (12/140). Enterococci isolates were identified in the HCA PM subgroup only The proportion of MRSA isolates was not comparable between CA and HCA PM subgroups. In the 83 patients with PM infected by monomicrobial pathogens, isolates of Gram-negative organisms were more commonly found in HCA PM subgroup than in CA PM subgroup (47.6% [10/21] of patients with HCA PM vs. 20.7% [12/58] of patients with CA PM; P = 0.01).
Conclusion
Gram-positive cocci such as S. aureus and streptococci were dominant etiologies in community-onset PM, whereas MRSA appears to an uncommon causative organism of PM in Korea. Enteric Gram-negative organisms should also be considered as major etiologies, especially in HCA PM patient population in Korea.
6.Survey of Adverse Events After The First Dose of The ChAdOx1 nCoV-19 Vaccine:A Single-Center Experience in Korea
Je Eun SONG ; Gang-Bok OH ; Hye Kyeong PARK ; Sung-Soon LEE ; Yee Gyung KWAK
Infection and Chemotherapy 2021;53(3):557-561
Vaccination is an important strategy for controlling the coronavirus disease 2019 (COVID-19) pandemic. We conducted a web-based cross-sectional survey based on Google Forms to collect data on adverse events (AEs) after the first dose of the ChAdOx1 nCoV-19 vaccine for healthcare workers (HCWs). Among the 1,676 vaccinated HCWs, 59.5% (998/1,676) responded to the survey. In total, 809 (81.1%) respondents reported experiencing AEs. There were no serious AEs, such as anaphylaxis. The most common AE was pain at the injection site (76.2%), followed by fatigue (75.9%), myalgia (74.9%), and fever (58.4%). HCWs in the younger age group experienced significantly more AEs than in the older age group.
7.Comparison of the Seroprevalence of Measles Antibodies among Healthcare Workers in Two Korean Hospitals in 2019
Yee Gyung KWAK ; Je Eun SONG ; Gang-Bok OH ; In Hye JEONG ; Chong Rae CHO ; Namhee KIM ; Hyeon Mi YOO ; Gyeong Min YOO ; Myung Jin LEE ; Baek-Nam KIM
Infection and Chemotherapy 2020;52(1):93-97
We performed a point seroprevalence survey of measles among healthcare workers (HCWs) at two Korean teaching hospitals in 2019. A total of 2,830 HCWs underwent an antibody test.The overall seropositivity of measles was 93.1%. The seroprevalence of measles was lowest in HCWs aged 20 - 24 years (81.2%), followed by those aged 25 - 29 years (90.1%). The rates of anti-measles IgG positivity were significantly different between the two hospitals (97.0% vs.89.4%, P <0.001). These results suggest that the seropositivity of measles in HCWs may differ depending on the hospital's vaccination policy.
8.Anaphylactic shock caused by an intradermal skin test-negative antibiotic during general anesthesia: A case report.
Kyu Nam KIM ; Dong Won KIM ; Yeong Hun SIN ; Song Yee OH
Anesthesia and Pain Medicine 2016;11(3):260-263
Anaphylaxis during the perioperative period is rare, but it still causes severe cardiovascular and respiratory collapse that can be fatal. In particular, when using antibiotics that have a high risk of hypersensitivity reactions, it is important to establish that intradermal skin tests are negative before using antibiotics. We report a case of anaphylactic shock occurring during general anesthesia after using an intradermal skin test-negative antibiotic. Regrettably, negative results of intradermal skin tests before using antibiotics do not completely eliminate the risk of anaphylaxis. Therefore, anesthesiologists should be prepared for anaphylaxis to occur at any point during the perioperative period.
Anaphylaxis*
;
Anesthesia, General*
;
Anti-Bacterial Agents
;
Hypersensitivity
;
Intradermal Tests
;
Perioperative Period
;
Skin Tests
;
Skin*
9.Relationship between first-twitch depression and train-of-four ratio during sugammadex reversal of rocuronium-induced neuromuscular blockade.
Kyo Sang KIM ; You Na OH ; Tae Yeon KIM ; Song Yee OH ; Yeong Hun SIN
Korean Journal of Anesthesiology 2016;69(3):239-243
BACKGROUND: The primary outcome of sugammadex reversal for rocuronium-induced neuromuscular block (NMB) is a train-of-four ratio (TOFR) of 0.9, not first twitch (T1) height. We investigated whether the recovery of TOFR or T1 differs based on the reversal of NMB with neostigmine or sugammadex. METHODS: The acceleromyographic responses from 0.6 mg/kg of rocuronium were monitored supramaximally in 80 patients after induction of anesthesia. The TOFR and T1 height were recorded, and saved in a personal computer using TOF-Watch SX Monitor software in all patients. Patients were randomly assigned to 2 groups to receive either neostigmine 50 µg/kg with glycopyrrolate 10 µg/kg (neostigmine group, n = 40) or sugammadex 2.0 mg/kg (sugammadex group, n = 40). The primary objective was to determine the difference of recovery time between TOFR to 0.9 and T1 to 0.9 after sugammadex or neostigmine administration during moderate rocuronium-induced NMB. RESULTS: The recovery pattern of the TOFR 2 min after sugammadex administration was 1.0 or more, but that of T1 was less than 90% (T1 / control value) up to 6 min after drug was injected. The recovery pattern of TOFR and T1 was similar during the 20 min after reversal with neostigmine. CONCLUSIONS: If you have not performed the T1 monitoring, both TOFR and T1 should be considered to confirm suitable recovery during the 6 min after reversal with sugammadex during rocuronium-induced moderate NMB.
Anesthesia
;
Depression*
;
Glycopyrrolate
;
Humans
;
Microcomputers
;
Neostigmine
;
Neuromuscular Blockade*
;
Neuromuscular Monitoring
10.Role of Atypical Pathogens and the Antibiotic Prescription Pattern in Acute Bronchitis: A Multicenter Study in Korea.
Sunghoon PARK ; Kil Chan OH ; Ki Seong KIM ; Kyu Tae SONG ; Kwang Ha YOO ; Yun Su SHIM ; Young Ju LEE ; Myung Goo LEE ; Jang Uk YUN ; Hyun Su KIM ; Yee Hyung KIM ; Won Jun LEE ; Do Il KIM ; Hyung Gun CHA ; Jae Myung LEE ; Jung San SEO ; Ki Suck JUNG
Journal of Korean Medical Science 2015;30(10):1446-1452
The role of atypical bacteria and the effect of antibiotic treatments in acute bronchitis are still not clear. This study was conducted at 22 hospitals (17 primary care clinics and 5 university hospitals) in Korea. Outpatients (aged > or = 18 yr) who had an acute illness with a new cough and sputum (< or = 30 days) were enrolled in 2013. Multiplex real-time polymerase chain reaction (RT-PCR) was used to detect five atypical bacteria. A total of 435 patients were diagnosed as having acute bronchitis (vs. probable pneumonia, n = 75), and 1.8% (n = 8) were positive for atypical pathogens (Bordetella pertussis, n = 3; B. parapertussis, n = 0; Mycoplasma pneumoniae, n = 1; Chlamydophila pneumoniae, n = 3; Legionella pneumophila, n = 1). Among clinical symptoms and signs, only post-tussive vomiting was more frequent in patients with atypical pathogens than those without (P = 0.024). In all, 72.2% of the enrolled patients received antibiotic treatment at their first visits, and beta-lactams (29.4%) and quinolones (20.5%) were the most commonly prescribed agents. In conclusion, our study demonstrates that the incidence of atypical pathogens is low in patients with acute bronchitis, and the rate of antibiotic prescriptions is high.
Anti-Bacterial Agents/therapeutic use
;
Bordetella parapertussis/genetics/*isolation & purification
;
Bordetella pertussis/genetics/*isolation & purification
;
Bronchitis/drug therapy/*microbiology
;
Chlamydophila pneumoniae/genetics/*isolation & purification
;
Community-Acquired Infections/microbiology
;
Female
;
Humans
;
Hypertension/complications
;
Legionella pneumophila/genetics/*isolation & purification
;
Male
;
Middle Aged
;
Mycoplasma pneumoniae/genetics/*isolation & purification
;
Real-Time Polymerase Chain Reaction
;
Republic of Korea
;
Sputum/microbiology

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