1.Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review
Hae Ri KIM ; Jae Wan JEON ; Eu Jin LEE ; Young Rok HAM ; Ki Ryang NA ; Kang Wook LEE ; Kee Hong PARK ; Seon Young KIM ; Dae Eun CHOI
Electrolytes & Blood Pressure 2021;19(1):10-14
Hypokalemic periodic paralysis (hypoPP) is a disorder characterized by episodic, short-lived, and hypo-reflexive skeletal muscle weakness. HypoPP is a rare disease caused by genetic mutations related to expression of sodium or calcium ion channels. Most mutations are associated with autosomal dominant inheritance, but some are found in patients with no relevant family history. A 28-year-old man who visited the emergency room for paralytic attack was assessed in this study.He exhibited motor weakness in four limbs. There was no previous medical history or family history. The initial electrocardiogram showed a flat T wave and QT prolongation. His blood test was delayed, and sudden hypotension and bradycardia were observed. The blood test showed severe hypokalemia. After correcting hypokalemia, his muscle paralysis recovered without any neurological deficits. The patient’s thyroid function and long exercise test results were normal. However, because of the history of high carbohydrate diet and exercise, hypoPP was suspected. Hence, next-generation sequencing (NGS) was performed, and a mutation of Arg669His was noted in the SCN4A gene. Although hypoPP is a rare disease, it can be suspected in patients with hypokalemic paralysis, and iden tification of this condition is important for preventing further attacks and improving patient outcomes. Diagnosing hypoPP through targeted NGS is a cost-effective and useful method.
2.Clinical Course and Outcomes of Patients with Severe Acute Respiratory Syndrome Coronavirus 2 Infection: a Preliminary Report of the First 28 Patients from the Korean Cohort Study on COVID-19
Eu Suk KIM ; Bum Sik CHIN ; Chang Kyung KANG ; Nam Joong KIM ; Yu Min KANG ; Jae-Phil CHOI ; Dong Hyun OH ; Jeong-Han KIM ; Boram KOH ; Seong Eun KIM ; Na Ra YUN ; Jae-Hoon LEE ; Jin Yong KIM ; Yeonjae KIM ; Ji Hwan BANG ; Kyoung-Ho SONG ; Hong Bin KIM ; Ki-hyun CHUNG ; Myoung-don OH ;
Journal of Korean Medical Science 2020;35(13):e142-
Background:
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected pneumonia emerged in Wuhan, China in December 2019. In this retrospective multicenter study, we investigated the clinical course and outcomes of novel coronavirus disease 2019 (COVID-19) from early cases in Republic of Korea.
Methods:
All of the cases confirmed by real time polymerase chain reaction were enrolled from the 1st to the 28th patient nationwide. Clinical data were collected and analyzed for changes in clinical severity including laboratory, radiological, and virologic dynamics during the progression of illness.
Results:
The median age was 40 years (range, 20–73 years) and 15 (53.6%) patients were male. The most common symptoms were cough (28.6%) and sore throat (28.6%), followed by fever (25.0%). Diarrhea was not common (10.7%). Two patients had no symptoms. Initial chest X-ray (CXR) showed infiltration in 46.4% of the patients, but computed tomography scan confirmed pneumonia in 88.9% (16/18) of the patients. Six patients (21.4%) required supplemental oxygen therapy, but no one needed mechanical ventilation. Lymphopenia was more common in severe cases. Higher level of C-reactive protein and worsening of chest radiographic score was observed during the 5–7 day period after symptom onset. Viral shedding was high from day 1 of illness, especially from the upper respiratory tract (URT).
Conclusion
The prodromal symptoms of COVID-19 were mild and most patients did not have limitations of daily activity. Viral shedding from URT was high from the prodromal phase. Radiological pneumonia was common from the early days of illness, but it was frequently not evident in simple CXR. These findings could be plausible explanations for the easy and rapid spread of SARS-CoV-2 in the community.
3.Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study
Ye Jee SHIM ; Hye Lim JUNG ; Hee Young SHIN ; Hyoung Jin KANG ; Jung Yoon CHOI ; Jeong Ok HAH ; Jae Min LEE ; Young Tak LIM ; Eu Jeen YANG ; Hee Jo BAEK ; Hyoung Soo CHOI ; Keon Hee YOO ; Jun Eun PARK ; Seongkoo KIM ; Ji Yoon KIM ; Eun Sil PARK ; Ho Joon IM ; Hee Won CHUEH ; Soon Ki KIM ; Jae Hee LEE ; Eun Sun YOO ; Hyeon Jin PARK ; Jun Ah LEE ; Meerim PARK ; Hyun Sik KANG ; Ji Kyoung PARK ; Na Hee LEE ; Sang Kyu PARK ; Young-Ho LEE ; Seong Wook LEE ; Eun Jin CHOI ; Seom Gim KONG
Journal of Korean Medical Science 2020;35(33):e279-
Background:
Hereditary hemolytic anemia (HHA) is a rare disease characterized by premature red blood cell (RBC) destruction due to intrinsic RBC defects. The RBC Disorder Working Party of the Korean Society of Hematology established and updated the standard operating procedure for making an accurate diagnosis of HHA since 2007. The aim of this study was to investigate a nationwide epidemiology of Korean HHA.
Methods:
We collected the data of a newly diagnosed pediatric HHA cohort (2007–2016) and compared this cohort's characteristics with those of a previously surveyed pediatric HHA cohort (1997–2006) in Korea. Each participant's information was retrospectively collected by a questionnaire survey.
Results:
A total of 369 children with HHA from 38 hospitals distributed in 16 of 17 districts of Korea were investigated. RBC membranopathies, hemoglobinopathies, RBC enzymopathies, and unknown etiologies accounted for 263 (71.3%), 59 (16.0%), 23 (6.2%), and 24 (6.5%) of the cases, respectively. Compared to the cohort from the previous decade, the proportions of hemoglobinopathies and RBC enzymopathies significantly increased (P < 0.001 and P = 0.008, respectively). Twenty-three of the 59 hemoglobinopathy patients had immigrant mothers, mostly from South-East Asia.
Conclusion
In Korea, thalassemia traits have increased over the past 10 years, reflecting both increased awareness of this disease and increased international marriages. The enhanced recognition of RBC enzymopathies is due to advances in diagnostic technique; however, 6.5% of HHA patients still do not have a clear diagnosis. It is necessary to improve accessibility of diagnosing HHA.
4.Use of serology and polymerase chain reaction to detect atypical respiratory pathogens during acute exacerbation of chronic obstructive pulmonary disease.
Chi Young JUNG ; Yeoung Hun CHOE ; Sang Yeub LEE ; Woo Jin KIM ; Jong Deog LEE ; Seung Won RA ; Eu Gene CHOI ; Jae Seung LEE ; Myung Jae PARK ; Ju Ock NA
The Korean Journal of Internal Medicine 2018;33(5):941-951
BACKGROUND/AIMS: To use serological and multiplex polymerase chain reaction (PCR) assays to examine sputum samples from patients experiencing acute exacerbation of chronic obstructive pulmonary disease (AECOPD) for the presence of atypical pathogens, including Mycoplasma pneumoniae, Chlamydia pneumoniae, and Legionella pneumophila. METHODS: From September 2012 to February 2014, 341 patients with AECOPD attending outpatient clinics were enrolled as part of a randomized, double-blind, multicenter study. A commercial enzyme-linked immunosorbent assay was used to measure serum immunoglobulin M (IgM) and IgG antibody titers on the first day of the study and at 36 days post-enrollment. Multiplex PCR was used to test sputum samples for the presence of atypical pathogens. A urinary antigen test for L. pneumophila was performed on the first day. RESULTS: Nineteen patients (5.6%) showed serological evidence of acute infection with M. pneumoniae. Also, one and seven patients (2%) showed serological evidence of acute infection with C. pneumoniae and L. pneumophila, respectively. All DNA samples were negative for M. pneumoniae, C. pneumoniae, and L. pneumophila according to PCR. Only one urine sample was positive for L. pneumophila antigen, but serologic evidence was lacking. CONCLUSIONS: Serological testing suggested that infection by atypical pathogens during AECOPD was relatively uncommon. In addition, PCR provided no direct evidence of infection by atypical pathogens. Thus, atypical pathogens may not be a major cause of AECOPD in South Korea.
Ambulatory Care Facilities
;
Chlamydophila pneumoniae
;
DNA
;
Enzyme-Linked Immunosorbent Assay
;
Humans
;
Immunoglobulin G
;
Immunoglobulin M
;
Korea
;
Legionella pneumophila
;
Multiplex Polymerase Chain Reaction
;
Mycoplasma pneumoniae
;
Pneumonia
;
Pneumonia, Mycoplasma
;
Polymerase Chain Reaction*
;
Pulmonary Disease, Chronic Obstructive*
;
Serologic Tests
;
Sputum
5.Appropriateness of Surgical Antibiotic Prophylaxis in a Tertiary Hospital.
Eun Young NAM ; Hong Bin KIM ; Hyunok BAE ; Soyoung MOON ; Sun Hee NA ; Se Yong KIM ; Doran YOON ; Ha Youn LEE ; Joohae KIM ; Chung Jong KIM ; Kyoung Ho SONG ; Eu Suk KIM ; Nam Joong KIM
Korean Journal of Nosocomial Infection Control 2014;19(2):64-70
BACKGROUND: This study aimed to evaluate the quality of surgical antibiotic prophylaxis (SAP) in a tertiary hospital. METHODS: Medical, anesthetic, and nursing records from the 27,320 procedures conducted in a tertiary hospital during 2012 were retrospectively reviewed. Three clinical performance indicators of SAP (selection of antibiotic, timing of the first administration, duration of prophylaxis) were included as part of the National Hospital Evaluation Program (NHEP) of the Health Insurance Review and Assessment Service. In addition, 2 other parameters were assessed according to recent guidelines (weight-based initial dosing for obesity, intraoperative re-dosing for excessive blood loss, and prolonged duration of procedures). RESULTS: Prophylactic antibiotics were administered in 19,637 (71.8%) of 27,320 total procedures. Quality of the 3 performance indicators was higher in the types of operations included in NHEP than in other procedures. However, additional doses were administered in 15 (1.2%) of 1,299 surgical procedures that lasted more than twice the half-life of the antibiotic used, and in 9 (3.3%) of 273 procedures with excessive blood loss greater than 1,500 mL. NHEP and non-NHEP results did not differ significantly. CONCLUSION: Three SAP quality indicators showed more improvement in NHEP surgical procedures than in non-NHEP, but the other parameters did not perform well regardless of NHEP assessment. Therefore, more measures to improve the appropriateness of SAP should be developed.
Anti-Bacterial Agents
;
Antibiotic Prophylaxis*
;
Half-Life
;
Insurance, Health
;
Nursing Records
;
Obesity
;
Quality Indicators, Health Care
;
Retrospective Studies
;
Tertiary Care Centers*
6.A Prospective Korean Multicenter Study for Infectious Complications in Patients Undergoing Prostate Surgery: Risk Factors and Efficacy of Antibiotic Prophylaxis.
Eu Chang HWANG ; Seung Il JUNG ; Dong Deuk KWON ; Gilho LEE ; Jae Hyun BAE ; Yong Gil NA ; Seung Ki MIN ; Hwancheol SON ; Sun Ju LEE ; Jae Min CHUNG ; Hong CHUNG ; In Rae CHO ; Young Ho KIM ; Tae Hyoung KIM ; In Ho CHANG
Journal of Korean Medical Science 2014;29(9):1271-1277
This multicenter study was undertaken to determine the efficacy of antibiotic prophylaxis and identify the risk factors for infectious complications after prostate surgery in Korean patients. A total of 424 patients who underwent surgery of the prostate were reviewed. All patients underwent urinalysis and urine culture preoperatively and postoperatively. Efficacy of antibiotic prophylaxis and risk factors for infectious complications were investigated. Infectious complications were observed in 34.9% of all patients. Factors independently associated with infectious complications were diabetes mellitus (adjusted OR, 1.99; 95% CI, 1.09-3.65, P=0.025) and operation time (adjusted OR, 1.08; 95% CI, 1.03-1.13, P=0.004). Clinicians should be aware of the high risk of infectious complications in patients with diabetes and those who undergo a prolonged operation time. Neither the type nor duration of prophylactic antibiotics resulted in differences in infectious complications.
Aged
;
Anti-Bacterial Agents/pharmacology/therapeutic use
;
Antibiotic Prophylaxis
;
Diabetes Mellitus, Type 2/complications
;
Drug Resistance, Bacterial/drug effects
;
Enterococcus/drug effects/isolation & purification
;
Escherichia coli/isolation & purification
;
Humans
;
Klebsiella pneumoniae/drug effects/isolation & purification
;
Male
;
Middle Aged
;
Odds Ratio
;
Postoperative Complications/microbiology/prevention & control
;
Prospective Studies
;
Prostatic Neoplasms/complications/*surgery
;
Quinolones/pharmacology
;
Risk Factors
;
Time Factors
;
Transurethral Resection of Prostate
;
Urinalysis
;
Urinary Tract Infections/microbiology
7.Role of Microbiologic Culture Results of Specimens Prior to Onset of Ventilator-Associated Pneumonia in the Patients Admitted to Intensive Care Unit.
Ji Hye KIM ; Sung Chul YOON ; Yu Mi LEE ; Ji Woong SON ; Eu Gene CHOI ; Moon Jun NA ; Sun Jung KWON
Tuberculosis and Respiratory Diseases 2012;72(1):30-36
BACKGROUND: Patients with ventilator-associated pneumonia (VAP) in intensive care unit (ICU) have a high mortality rate. The routine surveillance cultures obtained previously or an ATS guideline for hospital-acquired pneumonia was used in selecting initial antimicrobials. The object of this study was to compare the respiratory samples before VAP and bronchoalveolar lavage (BAL) culture. METHODS: 54 patients underwent fiberoptic bronchoscopy to obtain BAL samples. We reviewed microbiologic specimen results of prior respiratory specimens (pre-VAP) and BAL. RESULTS: Among 51 patients with 54 VAP episodes, 52 microorganisms of pre-VAP and 56 BAL samples were isolated. Pre-VAP included 21.2% of MRSA, and 32.6% of multidrug resistant-Acinetobacter baumannii (MDR-AB). BAL samples comprised 25.0% of MRSA, 26.7% of MDR-AB, 14.3% of Stenotrophomonas maltophilia and 3.6% of Klebsiella pneumonia in order. In pre-VAP samples compared to BAL samples, only 35.2% were identical. In BAL samples compared to pre-VAP samples obtained in 5 days before the onset of VAP, only 43.6% were identical. However, among BAL samples compared to pre-VAP samples obtained after more than 5 days, 13.3% were identical (p=0.037). CONCLUSION: Based on these data, pre-VAP samples obtained prior to 5 day onset of VAP may help to predict the causative microorganisms and to select appropriate initial antimicrobials.
Anti-Bacterial Agents
;
Bronchoalveolar Lavage
;
Bronchoscopy
;
Humans
;
Critical Care
;
Intensive Care Units
;
Klebsiella
;
Methicillin-Resistant Staphylococcus aureus
;
Pneumonia
;
Pneumonia, Ventilator-Associated
;
Stenotrophomonas maltophilia
8.Quantitative PCR for Etiologic Diagnosis of Methicillin-Resistant Staphylococcus aureus Pneumonia in Intensive Care Unit.
Sun Jung KWON ; Taehyeon JEON ; Dongwook SEO ; Moonjoon NA ; Eu Gene CHOI ; Ji Woong SON ; Eun Hyung YOO ; Chang Gyo PARK ; Hoi Young LEE ; Ju Ock KIM ; Sun Young KIM ; Jaeku KANG
Tuberculosis and Respiratory Diseases 2012;72(3):293-301
BACKGROUND: Ventilator-associated pneumonia (VAP) requires prompt and appropriate treatment. Since methicillin-resistant Staphylococcus aureus (MRSA) is a frequent pathogen in VAP, rapid identification of it, is pivotal. Our aim was to evaluate the utility of quantitative polymerase chain reaction (qPCR) as a useful method for etiologic diagnoses of MRSA pneumonia. METHODS: We performed qPCR for mecA, S. aureus-specific femA-SA, and S. epidermidis-specific femA-SE genes from bronchoalveolar lavage or bronchial washing samples obtained from clinically-suspected VAP. Molecular identification of MRSA was based on the presence of the mecA and femA-SA gene, with the absence of the femA-SE gene. To compensate for the experimental and clinical conditions, we spiked an internal control in the course of DNA extraction. We estimated number of colony-forming units per mL (CFU/mL) of MRSA samples through a standard curve of a serially-diluted reference MRSA strain. We compared the threshold cycle (Ct) value with the microbiologic results of MRSA. RESULTS: We obtained the mecA gene standard curve, which showed the detection limit of the mecA gene to be 100 fg, which corresponds to a copy number of 30. We chose cut-off Ct values of 27.94 (equivalent to 1x10(4) CFU/mL) and 21.78 (equivalent to 1x10(5) CFU/mL). The sensitivity and specificity of our assay were 88.9% and 88.9% respectively, when compared with quantitative cultures. CONCLUSION: Our results were valuable for diagnosing and identifying pathogens involved in VAP. We believe our modified qPCR is an appropriate tool for the rapid diagnosis of clinical pathogens regarding patients in the intensive care unit.
Adenosine
;
Bronchoalveolar Lavage
;
Coat Protein Complex I
;
DNA
;
Humans
;
Critical Care
;
Intensive Care Units
;
Limit of Detection
;
Methicillin Resistance
;
Methicillin-Resistant Staphylococcus aureus
;
Pneumonia
;
Pneumonia, Ventilator-Associated
;
Polymerase Chain Reaction
;
Real-Time Polymerase Chain Reaction
;
Sprains and Strains
;
Stem Cells
9.Comparison of spirometry with cardiopulmonary exercise test of chronic obstructive pulmonary disease.
Woon Tae NA ; Joo Ho PARK ; Go Eun LEE ; Sun Jung KWON ; Ji Woong SON ; Moon Jun NA ; Eu Gene CHOI
Korean Journal of Medicine 2009;76(5):571-577
BACKGROUND/AIMS: Chronic obstructive pulmonary disease (COPD) is characterized by an incompletely reversible airflow limitation. Pulmonary function test (PFT) has been considered the gold standard test for diagnosis and severity evaluation in COPD. However, PFT by spirometry does not provide information about exercise performance in COPD patients. Therefore, the present study was performed to compare pulmonary function determined by spirometry with exercise function determined by cardiopulmonary exercise test (CPET) for grading of COPD. METHODS: A total of 105 patients with airway obstruction were examined. The patients' mean age was 65 years, and the mean smoking history was 27 pack-years. The patients underwent spirometry and CPET. The results were analyzed by categorical statistical comparison, based on the Global Initiative for Chronic Obstructive Lung Disease (GOLD) and American Thoracic Society guidelines. RESULTS: The two methods agreed on the classification of only 44 patients (42%). Of the remaining patients, 21 (20%) were found to be less severe according to CPET than according to PFT, whereas 40 (38%) were more severe. Those who were more severe according to CPET had significantly low maximal minute ventilation, low anaerobic threshold, low oxygen pulse, and high breathing reserve. CONCLUSIONS: The present study revealed the large disagreement between the results of resting and exercise pulmonary function tests, and therefore suggests the need for a novel approach or guideline. Additional cardiological evaluation may be needed in patients classified as more severe according to CPET, who are assumed to have a greater degree of impairment of cardiovascular function.
Airway Obstruction
;
Anaerobic Threshold
;
Bacterial Toxins
;
Exercise Test
;
Humans
;
Oxygen
;
Pulmonary Disease, Chronic Obstructive
;
Respiration
;
Respiratory Function Tests
;
Smoke
;
Smoking
;
Spirometry
;
Ventilation
10.A Case of Miliary Tuberculosis Misdiagnosed as Pneumonia and ARDS Due to the Transient Improvement after Intravenous Injection of Levofloxacin.
Go Eun LEE ; Young Jun CHO ; Hyun Min CHO ; Ji Woong SON ; Eu Gene CHOI ; Moon Jun NA ; Sun Jung KWON
Tuberculosis and Respiratory Diseases 2009;66(3):236-240
Miliary tuberculosis is quite a rare but serious cause of acute respiratory distress syndrome (ARDS). Therefore, the early detection of military tuberculosis as the underlying cause of ARDS is very important for the prognosis and survival of the patient. We report a case of military tuberculosis mimicking ARDS. A female patient was admitted due to repeated fever and dyspnea. The initial chest CT scan showed diffuse ground glass opacity, without a miliary pattern. The case was considered to be ARDS caused by pneumonia. She showed improvement after being treated with levofloxacin. However, she was re-admitted with fever seven days after discharge. The follow up chest CT scan showed micronodules in both lungs. An open lung biopsy confirmed the diagnosis of military tuberculosis.
Biopsy
;
Dyspnea
;
Female
;
Fever
;
Follow-Up Studies
;
Glass
;
Humans
;
Injections, Intravenous
;
Lung
;
Military Personnel
;
Ofloxacin
;
Pneumonia
;
Prognosis
;
Respiratory Distress Syndrome, Adult
;
Thorax
;
Tuberculosis
;
Tuberculosis, Miliary

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