Background: and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM). Methods: We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined. Results: The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies. Conclusions This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.

Background: and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM). Methods: We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined. Results: The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies. Conclusions This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.

Purpose: This study compares the clinical features of children who underwent Hotz’s operation for epiblepharon before and after the COVID-19 pandemic focusing on body mass index (BMI). Methods: We retrospectively reviewed the randomized charts of 976 children diagnosed with epiblepharon who underwent Hotz’s operation in our hospital from March 2016 to December 2022. Patients were divided into two groups: those who underwent surgery from March 2016 to December 2019 (before the pandemic, group 1) and those who had it from August 2020 to December 2022 (after the pandemic, group 2). Patients were further categorized into age groups (0-2, 3-5, 6-8, 9-11, and 12-14 years) for comparison of clinical features. Results: Groups 1 and 2 included 714 and 262 patients, respectively. In group 2, BMI was significantly higher in the 6-8 and 9-11 groups and skin fold height was also higher. Conclusions In regard to clinical features, BMI was greater after the COVID-19 pandemic in children aged 6–11 years, and skin fold height was higher across all age groups. These changes are likely due to lifestyle modifications associated with the pandemic.

Purpose: This study compares the clinical features of children who underwent Hotz’s operation for epiblepharon before and after the COVID-19 pandemic focusing on body mass index (BMI). Methods: We retrospectively reviewed the randomized charts of 976 children diagnosed with epiblepharon who underwent Hotz’s operation in our hospital from March 2016 to December 2022. Patients were divided into two groups: those who underwent surgery from March 2016 to December 2019 (before the pandemic, group 1) and those who had it from August 2020 to December 2022 (after the pandemic, group 2). Patients were further categorized into age groups (0-2, 3-5, 6-8, 9-11, and 12-14 years) for comparison of clinical features. Results: Groups 1 and 2 included 714 and 262 patients, respectively. In group 2, BMI was significantly higher in the 6-8 and 9-11 groups and skin fold height was also higher. Conclusions In regard to clinical features, BMI was greater after the COVID-19 pandemic in children aged 6–11 years, and skin fold height was higher across all age groups. These changes are likely due to lifestyle modifications associated with the pandemic.

Background: and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM). Methods: We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined. Results: The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies. Conclusions This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.

Purpose: This study compares the clinical features of children who underwent Hotz’s operation for epiblepharon before and after the COVID-19 pandemic focusing on body mass index (BMI). Methods: We retrospectively reviewed the randomized charts of 976 children diagnosed with epiblepharon who underwent Hotz’s operation in our hospital from March 2016 to December 2022. Patients were divided into two groups: those who underwent surgery from March 2016 to December 2019 (before the pandemic, group 1) and those who had it from August 2020 to December 2022 (after the pandemic, group 2). Patients were further categorized into age groups (0-2, 3-5, 6-8, 9-11, and 12-14 years) for comparison of clinical features. Results: Groups 1 and 2 included 714 and 262 patients, respectively. In group 2, BMI was significantly higher in the 6-8 and 9-11 groups and skin fold height was also higher. Conclusions In regard to clinical features, BMI was greater after the COVID-19 pandemic in children aged 6–11 years, and skin fold height was higher across all age groups. These changes are likely due to lifestyle modifications associated with the pandemic.

Background/Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by fat accumulation in the liver. MASLD encompasses both steatosis and MASH. Since MASH can lead to cirrhosis and liver cancer, steatosis and MASH must be distinguished during patient treatment. Here, we investigate the genomes, epigenomes, and transcriptomes of MASLD patients to identify signature gene set for more accurate tracking of MASLD progression. Methods: Biopsy-tissue and blood samples from patients with 134 MASLD, comprising 60 steatosis and 74 MASH patients were performed omics analysis. SVM learning algorithm were used to calculate most predictive features. Linear regression was applied to find signature gene set that distinguish the stage of MASLD and to validate their application into independent cohort of MASLD. Results: After performing WGS, WES, WGBS, and total RNA-seq on 134 biopsy samples from confirmed MASLD patients, we provided 1,955 MASLD-associated features, out of 3,176 somatic variant callings, 58 DMRs, and 1,393 DEGs that track MASLD progression. Then, we used a SVM learning algorithm to analyze the data and select the most predictive features. Using linear regression, we identified a signature gene set capable of differentiating the various stages of MASLD and verified it in different independent cohorts of MASLD and a liver cancer cohort. Conclusions We identified a signature gene set (i.e., CAPG, HYAL3, WIPI1, TREM2, SPP1, and RNASE6) with strong potential as a panel of diagnostic genes of MASLD-associated disease.

Background: The Omicron variant has become the most prevalent SARS-CoV-2 variant. Omicron is known to induce milder lesions compared to the original Wuhan strain. Fatal infection of the Wuhan strain into the brain has been well documented in COVID-19 mouse models and human COVID-19 cases, but apparent infections into the brain by Omicron have not been reported in human adult cases or animal models. In this study, we investigated whether Omicron could spread to the brain using K18-hACE2 mice susceptible to SARS-CoV-2 infection. Results: K18-hACE2 mice were intranasally infected with 1 × 105 PFU of the original Wuhan strain and the Omicron variant of SARS-CoV-2. A follow-up was conducted 7 days post infection. All Wuhan-infected mice showed > 20% body weight loss, defined as the lethal condition, whereas two out of five Omicron-infected mice (40%) lost > 20% body weight. Histopathological analysis based on H&E staining revealed inflammatory responses in the brains of these two Omicron-infected mice. Immunostaining analysis of viral nucleocapsid protein revealed severe infection of neuron cells in the brains of these two Omicron-infected mice. Lymphoid depletion and apoptosis were observed in the spleen of Omicron-infected mice with brain infection. Conclusion Lethal conditions, such as severe body weight loss and encephalopathy, can occur in Omicron-infected K18-hACE2 mice. Our study reports, for the first time, that Omicron can induce brain infection with lymphoid depletion in the mouse COVID-19 model.

Purpose: Croup is a clinical manifestation of coronavirus disease 2019 (COVID-19) in children. The Omicron variant of severe acute respiratory syndrome coronavirus 2 usually causes an upper respiratory tract infection. We investigated the differences between croups caused by COVID-19 and by other respiratory viruses (ORV). Methods: We reviewed clinical characteristics, therapeutic measures, and the Westley Croup Score of children with croup who visited the emergency department of Gyeongsang National University Hospital from January 1 through April 7, 2022. According to the laboratory-confirmed viruses, they were divided into 2 groups: COVID-19 and ORV. Between the 2 groups, we compared the abovementioned features. Moderate-to-severe croup was defined by a Westley Croup Score of 3 or higher. Results: A total of 20 children were diagnosed with croup caused by COVID-19 (n = 11; median age, 18 months) or by ORV (n = 9; 7 months). Median Westley Croup Score was higher in the COVID-19 group than in the ORV group (5.0 [range, 0-10.0] vs. 2.0 [1.0-5.0]; P = 0.031). Among the components of the scoring system, only stridor showed a significant difference (e.g., “stridor at rest”: COVID-19, 8 of 11 vs. ORV, 2 of 9; P = 0.046). Median C-reactive protein concentration was higher in the COVID-19 group (3.2 vs. 0.4 mg/L; P = 0.007). Severity of the COVID-19 group was marginally higher than that of the ORV group in terms of the median oxygen saturation (95% vs. 98%; P = 0.056) and the proportions of moderate-to-severe croup (9 of 11 vs. 3 of 9; P = 0.065) and application of high-flow nasal cannula (4 of 11 vs. 0 of 9; P = 0.094). Conclusion Croup caused by COVID-19 during the period of dominance of the Omicron variant outbreak might be more severe than croup caused by ORV.

Background: Gaucher disease (GD) is an autosomal recessive disorder characterized by excessive accumulation of glucosylceramide in multiple organs. This study was performed to determine the detection rate of GD in a selected patient population with unexplained splenomegaly in Korea. Methods: This was a multicenter, observational study conducted at 18 sites in Korea between December 2016 and February 2020. Adult patients with unexplained splenomegaly were enrolled and tested for β-glucosidase enzyme activity on dried blood spots (DBS) and in peripheral blood leukocytes. Mutation analysis was performed if the test was positive or indeterminate for the enzyme assay. The primary endpoint was the percentage of patients with GD in patients with unexplained splenomegaly. Results: A total of 352 patients were enrolled in this study (male patients, 199; mean age, 48.42 yr). Amongst them, 14.77% of patients had concomitant hepatomegaly. The most common sign related to GD was splenomegaly (100%), followed by thrombocytopenia (44.32%) and, anemia (40.91%). The β-glucosidase activity assay on DBS and peripheral leukocytes showed abnormal results in sixteen and six patients, respectively. Eight patients were tested for the mutation, seven of whom were negative and one patient showed a positive mutation analysis result. One female patient who presented with splenomegaly and thrombocytopenia was diagnosed with type 1 GD. The detection rate of GD was 0.2841% (exact 95% CI, 0.0072‒). Conclusion The detection rate of GD in probable high-risk patients in Korea was lower than expected.However, the role of hemato-oncologists is still important in the diagnosis of GD.