The Use of Point-of-care Ultrasound in Emergency Medical Centers in Korea:a National Cross-sectional Survey

Background@#Point-of-care ultrasound (POCUS) is an essential tool in emergency medicine (EM). We aimed to investigate the current status and perception of POCUS use in emergency medical centers in Korea. @*Methods@#A cross-sectional, nationwide survey was conducted using a mobile survey of physicians at emergency medical centers in Korea. The first message was sent on November 27, 2020, and the second message was sent on December 3, 2020 to the non-responders.The questionnaire comprised 6 categories and 24 questionnaires on demographics, current practice, education, perception, and barriers to the use of POCUS. @*Results@#A total of 467 physicians participated in the survey (a response rate of 32% among 1,458 target physicians), of which 43% were residents and 57% were EM specialists. Most of the respondents (96%) answered that they use POCUS, of which 89% reported using it at least once a week. The most frequently used types of POCUS were focused assessment with sonography for trauma (68%) and echocardiography (66%). Musculoskeletal, male genital, and pediatric scans were rarely performed tests but ranked as of the scans physicians most wanted to learn. About 73% of the respondents received ultrasound education, and 41% received ultrasound education at their own institutions. Nevertheless, educationrelated barriers are still the biggest deterrent to POCUS use (60%). In addition, multivariate multinomial logistic regression analysis revealed that the greater the number of ultrasound devices and the total number of physicians in the emergency center, the more likely they were to use POCUS every day. @*Conclusion@#This study found that most physicians currently working in emergency medical centers in Korea more frequently perform various types of ultrasound scans compared to those 10 years prior. To further promote the use of POCUS, it is important to have an appropriate number of ultrasound devices and physicians in the emergency center along with systematic POCUS education.

Respiratory Protection Effect of Earloop-type KF94 Masks according to the Wearing Method in COVID-19 Pandemic: a Randomized, Open-label Study

Background@#Ear-loop-type Korean Filter 94 masks (KF94 masks, equivalent to the N95 and FFP2) are broadly used in health care settings in Korea for the coronavirus disease 2019 pandemic. @*Methods@#A prospective randomized open-label study was designed to identify differences in the fitting performance between mask wearing methods in three different types of KF94 mask with ear loops between January to March 2021. General-fitting involved wearing an earloop-type KF94 mask, and tight-fitting involved wearing a mask aided by a clip connecting the ear loops. Each of the 30 participants wore three types of masks according to a randomly assigned order in both methods and performed a total of six quantitative fit tests (QNFTs) according to the occupational safety and health administration protocol. @*Results@#All fit factors (FFs) measured by the QNFT were significantly higher for tight-fitting method with the clip in all KF94 masks (P < 0.001). However, the total FFs were very low, with a median (interquartile range) of 6 (3–23) and 29 (9–116) for general-fitting and tight-fitting, respectively. When wearing tightly, the horizontal 3-fold type mask with adjustable ear-loop length had the highest FF, with a median of 125, and the QNFT pass rate (FF ≥ 100) increased significantly from 4 (13%) to 18 (60%). @*Conclusion@#Even with sufficient filter efficiency, ear-loop-type-KF94 masks do not provide adequate protection. However, in relatively low-risk environments, wearing a face-seal adjustable KF94 mask and tight wearing with a clip can improve respiratory protection for healthcare workers.

The Use of Point-of-care Ultrasound in Emergency Medical Centers in Korea:a National Cross-sectional Survey

Background@#Point-of-care ultrasound (POCUS) is an essential tool in emergency medicine (EM). We aimed to investigate the current status and perception of POCUS use in emergency medical centers in Korea. @*Methods@#A cross-sectional, nationwide survey was conducted using a mobile survey of physicians at emergency medical centers in Korea. The first message was sent on November 27, 2020, and the second message was sent on December 3, 2020 to the non-responders.The questionnaire comprised 6 categories and 24 questionnaires on demographics, current practice, education, perception, and barriers to the use of POCUS. @*Results@#A total of 467 physicians participated in the survey (a response rate of 32% among 1,458 target physicians), of which 43% were residents and 57% were EM specialists. Most of the respondents (96%) answered that they use POCUS, of which 89% reported using it at least once a week. The most frequently used types of POCUS were focused assessment with sonography for trauma (68%) and echocardiography (66%). Musculoskeletal, male genital, and pediatric scans were rarely performed tests but ranked as of the scans physicians most wanted to learn. About 73% of the respondents received ultrasound education, and 41% received ultrasound education at their own institutions. Nevertheless, educationrelated barriers are still the biggest deterrent to POCUS use (60%). In addition, multivariate multinomial logistic regression analysis revealed that the greater the number of ultrasound devices and the total number of physicians in the emergency center, the more likely they were to use POCUS every day. @*Conclusion@#This study found that most physicians currently working in emergency medical centers in Korea more frequently perform various types of ultrasound scans compared to those 10 years prior. To further promote the use of POCUS, it is important to have an appropriate number of ultrasound devices and physicians in the emergency center along with systematic POCUS education.

Respiratory Protection Effect of Earloop-type KF94 Masks according to the Wearing Method in COVID-19 Pandemic: a Randomized, Open-label Study

Background@#Ear-loop-type Korean Filter 94 masks (KF94 masks, equivalent to the N95 and FFP2) are broadly used in health care settings in Korea for the coronavirus disease 2019 pandemic. @*Methods@#A prospective randomized open-label study was designed to identify differences in the fitting performance between mask wearing methods in three different types of KF94 mask with ear loops between January to March 2021. General-fitting involved wearing an earloop-type KF94 mask, and tight-fitting involved wearing a mask aided by a clip connecting the ear loops. Each of the 30 participants wore three types of masks according to a randomly assigned order in both methods and performed a total of six quantitative fit tests (QNFTs) according to the occupational safety and health administration protocol. @*Results@#All fit factors (FFs) measured by the QNFT were significantly higher for tight-fitting method with the clip in all KF94 masks (P < 0.001). However, the total FFs were very low, with a median (interquartile range) of 6 (3–23) and 29 (9–116) for general-fitting and tight-fitting, respectively. When wearing tightly, the horizontal 3-fold type mask with adjustable ear-loop length had the highest FF, with a median of 125, and the QNFT pass rate (FF ≥ 100) increased significantly from 4 (13%) to 18 (60%). @*Conclusion@#Even with sufficient filter efficiency, ear-loop-type-KF94 masks do not provide adequate protection. However, in relatively low-risk environments, wearing a face-seal adjustable KF94 mask and tight wearing with a clip can improve respiratory protection for healthcare workers.

Exploratory evaluation of the role of cardiac troponin on the clinical outcome of patients visiting emergency department with or without chronic kidney disease

Objective@#Elevated levels of cardiac troponin in chronic kidney disease (CKD) patients admitted to the emergency department (ED) is not well understood and is often ignored. This study aimed to investigate the impact of cardiac troponin I (TnI) levels on the clinical outcome of patients visiting the ED with or without CKD. @*Methods@#In this retrospective single-center cohort study, we enrolled patients visiting the ED without a diagnosis of coronary artery disease (CAD). Elevated cardiac TnI was defined as being ≥99th percentile of the normal population (Siemens ADVIA Centaur TnI-Ultra≥0.040 ng/mL). The clinical outcomes of patients with CKD stage≤2 and CKD stage ≥3 were compared. The primary endpoint was the 180-day all-cause death, including cardiovascular and non-cardiovascular deaths. @*Results@#Among a total of 30,472 patients (median age, 61 years; male sex, 54.3%), elevated TnI was found in 4,377 patients (14.4%). There were 3,634 deaths (11.9%) including 584 cardiovascular (1.9%) and 3,050 non-cardiovascular deaths (10.0%). The risk of all-cause death increased in patients with elevated TnI in both CKD stage≤2 (hazard ratio [HR], 2.1; 95% confidence interval [CI], 1.9-2.3) and CKD stage≥3 (HR, 1.5; 95% CI, 1.4-1.7), and so did the risks of cardiovascular and non-cardiovascular death (HR, 1.2-4.7) (P<0.05, all). The association of elevated TnI with death risk was consistent in multivariate analyses and in most clinical subgroup analyses. @*Conclusion@#Elevated TnI was associated with higher 180-day mortality irrespective of renal function among patients visiting the ED without documented CAD. CKD patients visiting the ED with elevated TnI may warrant additional evaluation or careful follow-up even without the presence of CAD.

Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency in various populations has become important for developing screening programs for this disease. In total, 1,581 anonymous DNA samples from an umbilical cord blood bank were tested for SMN1 and SMN2 gene copies using a multiplex ligation-dependent probe amplification assay. Twenty-nine of the 1,581 newborns [1.83%; 95% confidence interval (CI), 1.25–2.66%] were SMA carriers with one copy of SMN1, and no homozygous SMN1 deletion was detected. The carrier frequency in this population was estimated to be 1,834 per 100,000 (95% CI, 1,254–2,659) or 1 in 55 (95% CI, 1/79–1/38). Our data indicate that SMA carriers are not uncommon in the Korean population and may serve as a reference for designing a population screening program in Korea.

Weak D type 33 Found in a Patient with a Weak D Phenotype: The First Case in Korea / 대한수혈학회지

RHD genotyping is a useful adjunct to serologic testing. Although the use of RHD genotyping in the detection of Asia type DEL in serological D negative Koreans is gradually increasing, it is rarely requested for patients with a known weak D phenotype. This paper reports the first Korean case of a 52-year-old female patient with serologic weak D phenotype and weak D type 33 (c.520G>A at exon 4 of RHD) identified by RHD exon 1 to 10 sequencing. In silico analysis predicted that the RHD c.520G>A (V174M) results in a serologic weak D phenotype.

De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea / 소아과

Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and autosomal dominant ATS. About 80% of patients with ATS have X-linked ATS, which is caused by mutations in the type IV collagen α5 chain gene, COL4A5. Although an 80% mutation detection rate is observed in men with X-linked ATS, some difficulties do exist in the genetic diagnosis of ATS. Most mutations are point mutations without hotspots in the COL4A3, COL4A4, and COL4A5 genes. Further, there are insufficient data on the detection of COL4A3 and COL4A4 mutations for their comparison between patients with autosomal recessive or dominant ATS. Therefore, diagnosis of ATS in female patients with no apparent family history can be challenging. Therefore, in this study, we used whole-exome sequencing (WES) to identify mutations in type IV collagen in 2 girls with glomerular basement membrane structural changes suspected to be associated with ATS; these patients had no relevant family history. Our results revealed de novo c.4688G>A (p.Arg1563Gln) and c.2714G>A (p.Gly905Asp) mutations in COL4A5. Therefore, we suggest that WES is an effective approach to obtain genetic information in ATS, particularly in female patients without a relevant family history, to detect unexpected DNA variations.

Short-term hemodynamic response to calcium supplementation in patients with refractory septic shock: a retrospective observational study

OBJECTIVE@#Research on calcium use as an adjunctive rescue therapy for refractory septic shock is limited. In this study, we aimed to investigate the short-term hemodynamic response after calcium supplementation in patients with refractory septic shock.@*METHODS@#This was a single-center, retrospective study of patients who presented to the Emergency Department from October 2014 through February 2018. Patients with refractory septic shock requiring norepinephrine-equivalent (NE) dose ≥ 0.5 µg/kg/min and receiving calcium supplementation, were included in the analysis. Patients were categorized into response group and no-response group, based on the changes in NE doses and mean arterial pressure after calcium administration. A multivariable logistic regression model was used to evaluate the association between hemodynamic response and 28-day survival.@*RESULTS@#A total of 66 patients were included in the study. Of these, 34 patients (52%) were classified as the response group, and 32 patients (48%) encompassed the no-response group (17 patients who deteriorated and 15 patients who had no significant changes in the clinical status). The 28-day mortality was determined to be 44% in the response group and 63% in the no-response group (P=0.14). Multivariable analysis revealed that the response group had a significant association with lower 28-day mortality (adjusted odds ratio, 0.23; 95% confidence interval, 0.06–0.89; P=0.03).@*CONCLUSION@#Short-term hemodynamic changes after calcium administration were variable in patients with refractory septic shock. Hemodynamic improvement after calcium supplementation may be associated with better survival. Further studies are required to determine when calcium supplementation needs to be considered, and how it impacts patientcentered outcomes in refractory septic shock.

A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum

PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased left visual acuity and corneal opacity. She had undergone several surgeries previously due to the presence of basosquamous carcinoma in the left lower eyelid, neurofibroma, and malignant melanoma of the facial skin. The patient showed repeated corneal surface problems, with a suspicious dendritic lesion; however, antiviral therapy was ineffective, and herpes simplex virus polymerase chain reaction results were negative. Despite regular follow-ups, the patient showed neovascularization around the corneal limbus and an irregular corneal surface. We performed corneal debridement with autologous serum eye drops for treatment. The patient's visual acuity and corneal surface improved after the procedure. The impression cytology result was corneal dysplasia. In whole exome sequencing, two pathogenic variants and one likely pathogenic variant of the POLH gene were detected. CONCLUSIONS: This is the first genetically identified xeroderma pigmentosum case with ophthalmological lesions of the eyelid and cornea in Korea. Debridement of the irregular corneal surface and autologous serum eye drop administration in xeroderma pigmentosum could be helpful for improving visual acuity.

A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

No abstract available.

PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)

No abstract available.

Accuracy of Imputation of Microsatellite Markers from BovineSNP50 and BovineHD BeadChip in Hanwoo Population of Korea

Until now microsatellite (MS) have been a popular choice of markers for parentage verification. Recently many countries have moved or are in process of moving from MS markers to single nucleotide polymorphism (SNP) markers for parentage testing. FAO-ISAG has also come up with a panel of 200 SNPs to replace the use of MS markers in parentage verification. However, in many countries most of the animals were genotyped by MS markers till now and the sudden shift to SNP markers will render the data of those animals useless. As National Institute of Animal Science in South Korea plans to move from standard ISAG recommended MS markers to SNPs, it faces the dilemma of exclusion of old animals that were genotyped by MS markers. Thus to facilitate this shift from MS to SNPs, such that the existing animals with MS data could still be used for parentage verification, this study was performed. In the current study we performed imputation of MS markers from the SNPs in the 500-kb region of the MS marker on either side. This method will provide an easy option for the labs to combine the data from the old and the current set of animals. It will be a cost efficient replacement of genotyping with the additional markers. We used 1,480 Hanwoo animals with both the MS data and SNP data to impute in the validation animals. We also compared the imputation accuracy between BovineSNP50 and BovineHD BeadChip. In our study the genotype concordance of 40% and 43% was observed in the BovineSNP50 and BovineHD BeadChip respectively.

Performance of the Real-Q EBV Quantification Kit for Epstein-Barr Virus DNA Quantification in Whole Blood

There has been increasing interest in standardized and quantitative Epstein-Barr virus (EBV) DNA testing for the management of EBV disease. We evaluated the performance of the Real-Q EBV Quantification Kit (BioSewoom, Korea) in whole blood (WB). Nucleic acid extraction and real-time PCR were performed by using the MagNA Pure 96 (Roche Diagnostics, Germany) and 7500 Fast real-time PCR system (Applied Biosystems, USA), respectively. Assay sensitivity, linearity, and conversion factor were determined by using the World Health Organization international standard diluted in EBV-negative WB. We used 81 WB clinical specimens to compare performance of the Real-Q EBV Quantification Kit and artus EBV RG PCR Kit (Qiagen, Germany). The limit of detection (LOD) and limit of quantification (LOQ) for the Real-Q kit were 453 and 750 IU/mL, respectively. The conversion factor from EBV genomic copies to IU was 0.62. The linear range of the assay was from 750 to 10⁶ IU/mL. Viral load values measured with the Real-Q assay were on average 0.54 log₁₀ copies/mL higher than those measured with the artus assay. The Real-Q assay offered good analytical performance for EBV DNA quantification in WB.

First Case of Echinocandin-Resistant Candida albicans in Korea

No abstract available.

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene

No abstract available.

A Case of Actinomycosis of an Orbital Subperiosteal Abscess in a Patient with Type 2 Diabetes Mellitus / 임상당뇨병

Orbital and paranasal actinomycosis have not been commonly reported. We report a case of this uncommon infection, which was improved after endonasal endoscopic drainage and antibiotics. A 53-year-old woman with type 2 diabetes mellitus complained of inability to lift her right upper eyelid and painful swelling over the preceding two days. Broad-spectrum antibiotics did not resolve her lesion. In ophthalmic examination, decreased visual acuity, upper and medial gaze limitation, and a relative afferent pupillary defect of her right eye were observed. Computed tomography of the orbit showed aggravated orbital cellulitis, preseptal cellulitis, subperiosteal abscess, and maxillary and ethmoid sinusitis. After endonasal endoscopic drainage and systemic antibiotics, her clinical symptoms dramatically improved. Microbiological analysis of the maxillary excisional biopsy showed Actinomycosis. This case is of interest due to the rare orbital presentation of actinomycosis infection and the importance of appropriate surgical drainage and long-term antibiotics treatment in such cases. Because delayed diagnosis and treatment of rhino-orbital actinomycosis can cause permanent vision loss or intracranial abscess, it requires careful clinical attention.

Performance Evaluation of the Real-Q Cytomegalovirus (CMV) Quantification Kit Using Two Real-Time PCR Systems for Quantifying CMV DNA in Whole Blood

Standardized cytomegalovirus (CMV) DNA quantification is important for managing CMV disease. We evaluated the performance of the Real-Q CMV Quantification Kit (Real-Q assay; BioSewoom, Korea) using whole blood (WB), with nucleic acid extraction using MagNA Pure 96 (Roche Diagnostics, Germany). Real-time PCR was performed on two platforms: the 7500 Fast real-time PCR (7500 Fast; Applied Biosystems, USA) and CFX96 real-time PCR detection (CFX96; Bio-Rad, USA) systems. The WHO international standard, diluted with CMV-negative WB, was used to validate the analytical performance. We used 90 WB clinical samples for comparison with the artus CMV RG PCR kit (artus assay; Qiagen, Germany). Limits of detections (LODs) in 7500 Fast and CFX96 were 367 and 479 IU/mL, respectively. The assay was linear from the LOD to 10(6) IU/mL (R2 ≥0.9886). The conversion factors from copies to IU in 7500 Fast and CFX96 were 0.95 and 1.06, respectively. Compared with the artus assay, for values 1,000 copies/mL, 73.3% and 80.6% of samples in 7500 Fast and CFX96, respectively, had <0.5 log10 copies/mL. The Real-Q assay is useful for quantifying CMV in WB with the two real-time PCR platforms.

Comparing the Efficacy of Samsung LABGEO PT10 and Bio-Rad Variant II Turbo for HbA1c Measurement in Three Types of Blood Samples

BACKGROUND: Hemoglobin A1c (HbA1c) is a good marker for monitoring glycemic control. The Samsung LABGEO PT10 HbA1c test (Samsung Electronics, Korea) was developed as a point-of-care testing approach. This study evaluated the levels of HbA1c in three different types of blood specimens using two different methods. METHODS: We used correlation analyses to compare the results obtained using Samsung LABGEO PT10 and Bio-Rad Variant II Turbo (Bio-Rad Laboratories, USA) to determine the levels of HbA1c in three different types of blood samples: capillary blood, EDTA whole blood, and lithium (Li)-heparin whole blood. RESULTS: The correlation coefficient for the level of HbA1c in capillary blood based on LABGEO PT10 vs. that in EDTA whole blood based on the Variant II Turbo was r=0.9619; that in capillary blood based on LABGEO PT10 vs. that in Li-heparin whole blood based on the Variant II Turbo was r=0.9619; that in capillary blood vs. that in EDTA whole blood based on the LABGEO PT10 was r=0.9697; that in capillary blood vs. that in Li-heparin whole blood based on the LABGEO PT10 was r=0.9724; and that in EDTA whole blood vs. that in Li-heparin whole blood based on the LABGEO PT10 was r=0.9730. CONCLUSIONS: The LABGEO PT10 was suitable for analyzing HbA1c. The results for the measurement of HbA1c levels in capillary blood were comparable to that in the whole blood samples. Additionally, LABGEO PT10 can be used for patients who are unable to take venipuncture.

Association of the Catechol O-Methyltransferase Val158-Met Polymorphism and Reduced Interference Control in Korean Children with Attention-Deficit Hyperactivity Disorder

OBJECTIVE: We tested for association of the catechol-O-methyltransferase (COMT) Val158-Met (rs4680) polymorphism with attention-deficit hyperactivity disorder (ADHD) using family-based test in Korean trios. METHODS: A total of 181 subjects with ADHD along with both of their biological parents were recruited from University Hospitals in Korea. We performed a transmission disequilibrium test (TDT) on 181 trios. RESULTS: In the TDT, we found the over-transmission of the Val allele in children with ADHD (chi2=4.21, p=0.040). CONCLUSION: These results suggest that the COMT Val158-Met polymorphism is associated with ADHD among the Korean population. However, this study must be replicated in larger populations.