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.

OBJECTIVES: We estimated the population prevalence of antibodies to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), including unreported infections, through a Korea Seroprevalence Study of Monitoring of SARS-CoV-2 Antibody Retention and Transmission (K-SEROSMART) in 258 communities throughout Korea. METHODS: In August 2022, a survey was conducted among 10,000 household members aged 5 years and older, in households selected through two stage probability random sampling. During face-to-face household interviews, participants self-reported their health status, COVID-19 diagnosis and vaccination history, and general characteristics. Subsequently, participants visited a community health center or medical clinic for blood sampling. Blood samples were analyzed for the presence of antibodies to spike proteins (anti-S) and antibodies to nucleocapsid proteins (anti-N) SARS-CoV-2 proteins using an electrochemiluminescence immunoassay. To estimate the population prevalence, the PROC SURVEYMEANS statistical procedure was employed, with weighting to reflect demographic data from July 2022. RESULTS: In total, 9,945 individuals from 5,041 households were surveyed across 258 communities, representing all basic local governments in Korea. The overall population-adjusted prevalence rates of anti-S and anti-N were 97.6% and 57.1%, respectively. Since the Korea Disease Control and Prevention Agency has reported a cumulative incidence of confirmed cases of 37.8% through July 31, 2022, the proportion of unreported infections among all COVID-19 infection was suggested to be 33.9%. CONCLUSIONS The K-SEROSMART represents the first nationwide, community-based seroepidemiologic survey of COVID-19, confirming that most individuals possess antibodies to SARS-CoV-2 and that a significant number of unreported cases existed. Furthermore, this study lays the foundation for a surveillance system to continuously monitor transmission at the community level and the response to COVID-19.

Purpose: Data on the distribution and impact of panel reactive antibodies (PRA) and donor specific antibodies (DSA) before lung transplantation in Asia, especially multi-center-based data, are limited. This study evaluated the prevalence of and effects of PRA and DSA levels before lung transplantations on outcomes in Korean patients using nationwide multicenter registry data. Materials and Methods: This study included 103 patients who received a lung transplant at five tertiary hospitals in South Korea between March 2015 and December 2017. Mortality, primary graft dysfunction (PGD), and bronchiolitis obliterans syndrome (BOS) were evaluated. Results: Sixteen patients had class I and/or class II PRAs exceeding 50%. Ten patients (9.7%) had DSAs with a mean fluorescence intensity (MFI) higher than 1000, six of whom had antibodies with a high MFI (≥2000). DSAs with high MFIs were more frequently observed in patients with high-grade PGD (≥2) than in those with no or low-grade (≤1) PGD. In the 47 patients who survived for longer than 9 months and were evaluated for BOS after the transplant, BOS was not related to DSA or PRA levels. One-year mortality was more strongly related to PRA class I exceeding 50% than that under 50% (0% vs. 16.7%, p=0.007). Conclusion Preoperative DSAs and PRAs are related to worse outcomes after lung transplantation. DSAs and PRAs should be considered when selecting lung transplant recipients, and recipients who have preoperative DSAs with high MFI values and high PRA levels should be monitored closely after lung transplantation.

PURPOSE: Up to 71% of South Korean postmenopausal women have vitamin D deficiency {serum 25-hydroxyvitamin D [25(OH) D] level <50 nmol/L}. Data on vitamin D supplementation was collected during the screening phase of an efficacy/safety study of denosumab in Korean postmenopausal women with osteoporosis. This report describes the effect of vitamin D supplementation on repletion to 25(OH)D levels ≥50 nmol/L in Korean postmenopausal women with osteoporosis. MATERIALS AND METHODS: Vitamin D levels of Korean postmenopausal women (60-90 years old) were measured by extracting 25(OH)D2 and 25(OH)D3 from serum samples via protein precipitation and using liquid chromatography with tandem mass spectrometry detection. Calibration curves were constructed from the mass chromatograms to obtain total vitamin D levels. Subjects with serum 25(OH)D levels <50 nmol/L were supplemented with 1000 IU of vitamin D tablets during the 2.5-month-long screening period. Dose, frequency, and duration were determined by the investigator. If repletion was achieved (≥50 nmol/L) on retest, subjects were eligible to be rescreened for study entry. RESULTS: Of 371 subjects screened, 191 (52%) required vitamin D supplementation, and 88% (168 of 191) were successfully repleted. More than half of the subjects (58%) who were successfully repleted received doses of 2000 IU daily. The mean time to successful repletion was 31 days (standard deviation 8.4 days; range 11-48 days). CONCLUSION: Supplementation with daily median doses of 2000 IU vitamin D successfully repleted 88% of Korean postmenopausal women with osteoporosis within 48 days to a serum vitamin D level of 50 nmol/L.
Aged ; Aged, 80 and over ; *Asian Continental Ancestry Group ; Bone Density Conservation Agents/*therapeutic use ; *Dietary Supplements ; Double-Blind Method ; Female ; Humans ; Middle Aged ; Osteoporosis, Postmenopausal/*complications/drug therapy/ethnology ; Postmenopause/blood ; Republic of Korea ; Vitamin D/analogs & derivatives/blood/*therapeutic use ; Vitamin D Deficiency/diagnosis/*drug therapy/ethnology

PURPOSE: The efficacy and safety of denosumab was compared with placebo in Korean postmenopausal women with osteoporosis in this phase III study. MATERIALS AND METHODS: Women aged 60 to 90 years with a T-score of <-2.5 and ≥-4.0 at the lumbar spine or total hip were randomized to a single 60 mg subcutaneous dose of denosumab or placebo for the 6-month double-blind phase. Eligible subjects entered the 6-month open-label extension phase and received a single dose of denosumab 60 mg. RESULTS: Baseline demographics were similar in the 62 denosumab- and 64 placebo-treated subjects who completed the double-blind phase. Treatment favored denosumab over placebo for the primary endpoint {mean percent change from baseline in lumbar spine bone mineral density (BMD) at Month 6 [3.2% (95% confidence interval 2.1%, 4.4%; p<0.0001)]}; and secondary endpoints (mean percent change from baseline in lumbar spine BMD at Month 1, total hip, femoral neck, and trochanter BMD at Months 1 and 6, and median percent change from baseline in bone turnover markers at Months 1, 3, and 6). Endpoint improvements were sustained over 12 months in the open-label extension (n=119). There were no new or unexpected safety signals. CONCLUSION: Denosumab was well tolerated and effective in increasing BMD and decreasing bone turnover markers over a 12-month period in Korean postmenopausal women. The findings of this study demonstrate that denosumab has beneficial effects on the measures of osteoporosis in Korean postmenopausal women.
Aged ; Aged, 80 and over ; *Asian Continental Ancestry Group ; Bone Density ; Bone Density Conservation Agents/*therapeutic use ; Denosumab/*therapeutic use ; Double-Blind Method ; Female ; Femur ; Femur Neck ; Humans ; Lumbar Vertebrae ; Middle Aged ; Osteoporosis, Postmenopausal/*drug therapy/*ethnology ; Postmenopause ; Republic of Korea

Spontaneous gastric perforation is a rare complication of gastric lymphoma that is potentially life threatening since it can progress to sepsis and multi-organ failure. Morbidity also increases due to prolonged hospitalization and delay in initiating chemotherapy. Therefore prompt diagnosis and appropriate treatment is critical to improve prognosis. A 64-year-old man presented to the emergency department with severe abdominal pain. Chest X-ray showed free air below the right diaphragm. Abdominal CT scan also demonstrated free air in the peritoneal cavity with large wall defect in the lesser curvature of gastric lower body. Therefore, the patient underwent emergency operation and primary closure was done. Pathologic specimen obtained during surgery was compatible to diffuse large B cell lymphoma. Fifteen days after primary closure, the patient received subtotal gastrectomy and chemotherapy was initiated after recovery. Patient is currently being followed-up at outpatient department without any particular complications. Herein, we report a rare case of gastric lymphoma that initially presented as peritonitis because of spontaneous gastric perforation.
Abdominal Pain ; Antigens, CD20/metabolism ; Antigens, CD45/metabolism ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Gastrectomy ; Humans ; Intestinal Perforation/diagnostic imaging ; Lymphoma, Large B-Cell, Diffuse/*diagnosis/drug therapy/pathology ; Lymphoma, Non-Hodgkin/*diagnosis/drug therapy/pathology ; Male ; Middle Aged ; Positron-Emission Tomography ; Stomach Neoplasms/*diagnosis/drug therapy/pathology ; Tomography, X-Ray Computed

Anterograde jejunojejunal intussusception after total gastrectomy is a very rare postoperative complication. We report a 54-year-old man with a history of total gastrectomy, uncut Roux-en-Y gastric bypass, and Braun's jejunojejunal anastomosis. An upper gastrointestinal endoscopy revealed a bulky, reddish mass in the efferent loop with congestion, edema, and mucosal bleeding. An emergency computed tomography showed a target-like multilayered wall thickening in the afferent loop and a lamellar structure arranged in a concentric circle. Surgical exploration revealed an anterograde intussusception of the afferent proximal jejunum adjacent to the jejunojejunostomy site. This is a very uncommon occurrence because most intussusceptions after total gastrectomy are of the retrograde type. Moreover, anterograde jejunojejunal intussusception tends to occur in the early postoperative period. We report a case of late postoperative anterograde jejunojejunal intussusception after total gastrectomy with Braun's jejunojejunal anastomosis in a 54-year-old Korean man and review the related literature.
Edema ; Emergencies ; Endoscopy, Gastrointestinal ; Estrogens, Conjugated (USP) ; Gastrectomy* ; Gastric Bypass ; Hemorrhage ; Humans ; Intussusception* ; Jejunum ; Middle Aged ; Postoperative Complications ; Postoperative Period

BACKGROUND AND OBJECTIVES: It is unclear which plaque component is related with long-term clinical outcomes in patients with coronary artery occlusive disease (CAOD). We assessed the relationship between plaque compositions and long-term clinical outcomes in those patients. SUBJECTS AND METHODS: The study subjects consisted of 339 consecutive patients (mean 61.7+/-12.2 years old, 239 males) who underwent coronary angiogram and a virtual histology-intravascular ultrasound examination. Major adverse cardiac and cerebrovascular events (MACCE), including all-cause death, non-fatal myocardial infarction, cerebrovascular events, and target vessel revascularization were evaluated during a mean 28-month follow-up period. RESULTS: Patients with high fibrofatty volume (FFV, >8.90 mm3, n=169) had a higher incidence of MACCE (25.4% vs. 14.7%, p=0.015), male sex (75.7% vs. 65.3%, p=0.043), acute coronary syndrome (53.3% vs. 35.9%, p=0.002), multivessel disease (62.7% vs. 41.8%, p<0.001) and post-stent slow flow (10.7% vs. 2.4%, p=0.002) than those with low FFV (FFV< or =8.90 mm3, n=170). Other plaque composition factors such as fibrous area/volume, dense calcified area/volume, and necrotic core area/volume did not show any impact on MACCE. Cardiogenic shock {hazard ratio (HR)=8.44; 95% confidence interval (CI)=3.00-23.79; p<0.001} and FFV (HR=1.85; 95% CI=1.12-3.07; p=0.016) were the independent predictors of MACCE by Cox regression analysis. Thin-cap fibroatheroma, necrotic core area, and necrotic core volume were not associated with MACCE. CONCLUSION: FFV of a culprit lesion was associated with unfavorable long-term clinical outcomes in patients with CAOD.
Acute Coronary Syndrome ; Coronary Artery Disease ; Coronary Vessels ; Follow-Up Studies ; Glycosaminoglycans ; Humans ; Incidence ; Male ; Myocardial Infarction ; Plaque, Atherosclerotic ; Shock, Cardiogenic ; Ultrasonography, Interventional

BACKGROUND/AIMS: Previous studies have reported that the frequency of re-diagnosing as carcinoma after endoscopic resection of gastric adenoma ranges between 6% and 47%. Therefore, specific endoscopic findings have been used to predict re-diagnosing as carcinoma after endoscopic resection of gastric adenoma at our center. We evaluated whether there is a use for these indicators for predicting carcinoma as a final diagnosis in forceps biopsy-proven adenomas. MATERIALS AND METHODS: We investigated 378 tissue samples from 308 patients. Classification of specimens as adenoma and carcinoma was based on postresection specimen. Endoscopic findings were reviewed for tumor location, size, gross appearance, surface nodularity, central concavity, surface color, and presence of ulcers. These variables were analyzed and compared between the adenoma group (275 cases) and the carcinoma group (103 cases), assigned based on post-resection diagnosis. RESULTS: The mean patient age was 61, and 227 of the patients were male. The mean lesion diameter was 14.9+/-8.1 mm in the adenoma group and 17.9+/-9.3 mm in the carcinoma group. A lesion size of 15 mm or greater, depressed appearance, surface nodularity, central concavity, and presence of high-grade dysplasia were all independently associated with re-diagnosing as carcinoma after endoscopic resection. CONCLUSIONS: Lesion size of 15 mm or greater, depressed-type appearance, central concavity, and nodular surface are feasible predictors of carcinoma as a final diagnosis in forceps biopsy-proven adenomas. Physicians need to recommend immediate endoscopic resection for forceps biopsy-proven adenomas with these four independent features so as not to miss the optimal window for treatment.
Adenoma ; Humans ; Male ; Stomach ; Surgical Instruments ; Ulcer

BACKGROUND/AIMS: Previous studies have reported that the frequency of re-diagnosing as carcinoma after endoscopic resection of gastric adenoma ranges between 6% and 47%. Therefore, specific endoscopic findings have been used to predict re-diagnosing as carcinoma after endoscopic resection of gastric adenoma at our center. We evaluated whether there is a use for these indicators for predicting carcinoma as a final diagnosis in forceps biopsy-proven adenomas. MATERIALS AND METHODS: We investigated 378 tissue samples from 308 patients. Classification of specimens as adenoma and carcinoma was based on postresection specimen. Endoscopic findings were reviewed for tumor location, size, gross appearance, surface nodularity, central concavity, surface color, and presence of ulcers. These variables were analyzed and compared between the adenoma group (275 cases) and the carcinoma group (103 cases), assigned based on post-resection diagnosis. RESULTS: The mean patient age was 61, and 227 of the patients were male. The mean lesion diameter was 14.9+/-8.1 mm in the adenoma group and 17.9+/-9.3 mm in the carcinoma group. A lesion size of 15 mm or greater, depressed appearance, surface nodularity, central concavity, and presence of high-grade dysplasia were all independently associated with re-diagnosing as carcinoma after endoscopic resection. CONCLUSIONS: Lesion size of 15 mm or greater, depressed-type appearance, central concavity, and nodular surface are feasible predictors of carcinoma as a final diagnosis in forceps biopsy-proven adenomas. Physicians need to recommend immediate endoscopic resection for forceps biopsy-proven adenomas with these four independent features so as not to miss the optimal window for treatment.
Adenoma ; Humans ; Male ; Stomach ; Surgical Instruments ; Ulcer