Purpose: In the modern era of precision medicine, next-generation sequencing (NGS) is employed for a variety of clinical purposes. The aim of this study was to investigate the trends and clinical characteristics of NGS testing in South Korea. Materials and Methods: This nationwide, population-based, retrospective cohort study examined National Health Insurance Service claims data from 2017 to 2021 for NGS and from 2008 to 2021 for gene-targeted anticancer drugs. Results: Among the total 98,748 claims, there were 51,407 (52.1%) solid cancer panels, 30,173 (30.5%) hereditary disease panels, and 17,168 (17.4%) hematolymphoid cancer panels. The number of annual claims showed a persistent upward trend, exhibiting a 5.4-fold increase, from 5,436 in 2017 to 29,557 in 2021. In the solid cancer panel, colorectal cancer was the most common (19.2%), followed by lung cancer (18.8%). The annual claims for targeted cancer drugs have increased 25.7-fold, from 3,932 in 2008 to 101,211 in 2020. Drugs for the treatment of lung cancer accounted for 488,819 (71.9%) claims. The number of patients who received non-hereditary NGS testing has substantially increased, and among them, the count of patients prescribed targeted anticancer drugs consistently rose from 508 (13.9%) in 2017 to 2,245 (12.3%) in 2020. Conclusion This study highlights the rising nationwide demand for comprehensive genetic testing for disease diagnosis and treatment following NGS reimbursement by the National Health Insurance in South Korea, in addition to the need for greater utilization of targeted anticancer drugs.

Background/Aims: This study aimed to develop a rehabilitation program for musculoskeletal pain experienced by gastrointestinal endoscopists and to investigate its usefulness. Methods: This was a multicenter cohort study. During the first 2 weeks, a questionnaire regarding daily workload and musculoskeletal symptoms was administered. Then, a rehabilitation program including equipment/posture correction and stretching was conducted during the remaining 6 weeks. Follow-up daily workload and musculoskeletal symptom surveys were distributed during the last 2 weeks. The program satisfaction survey was performed at the 6th and 8th weeks. Results: Among 118 participants (69 men), 94% (n=111) complained of musculoskeletal pain at baseline. Various hospital activities at baseline were associated with multisite musculoskeletal pain, whereas only a few workloads were correlated with musculoskeletal pain after the rehabilitation program. Follow-up musculoskeletal pain was negatively correlated with equipment/ posture program performance; arm/elbow pain was negatively correlated with elbow (R=–0.307) and wrist (R=–0.205) posture; leg/foot pain was negatively correlated with monitor position, shoulder, elbow, wrist, leg, and foot posture. Higher performance in the scope position (86.8% in the improvement vs 71.3% in the aggravation group, p=0.054) and table height (94.1% vs 79.1%, p=0.054) were associated with pain improvement. An increased number of colonoscopy procedures (6.27 in the aggravation vs 0.02 in the improvement group, p=0.017) was associated with pain aggravation. Most participants reported being average (32%) or satisfied (67%) with the program at the end of the study. Conclusions Our rehabilitation program is easily applicable, satisfactory, and helpful for improving the musculoskeletal pain experienced by gastrointestinal endoscopists.

Background/Aims: Chest pain in patients with obstructive coronary artery disease (OCAD) is affected by several social factors. The gender-based differences in chest pain among Koreans have yet to be investigated. Methods: The study consecutively enrolled 1,549 patients (male/female, 514/1,035; 61 ± 11 years old) with suspected angina. The predictive factors for OCAD based on gender were evaluated. Results: Men experienced more squeezing type pain on the left side of chest, while women demonstrated more dull quality pain in the retrosternal and epigastric area. After adjustment for risk factors, pain in the retrosternal area (odds ratio [OR], 1.491; 95% confidence interval [CI], 1.178 to 1.887) and aggravation by exercise (OR, 2.235; 95% CI, 1.745 to 2.861) were positively associated with OCAD. In men, shorter duration (OR, 1.581; 95% CI, 1.086 to 2.303) and dyspnea (OR, 1.610; 95% CI, 1.040 to 2.490) increased the probability for OCAD, while left-sided chest pain suggested a low probability for OCAD (OR, 0.590; 95% CI, 0.388 to 0.897). In women, aggravation by emotional stress (OR, 0.348; 95% CI, 0.162 to 0.746) and dizziness (OR, 0.457; 95% CI, 0.246 to 0.849) decreased the probability for OCAD. Conclusions This is the first study to focus on gender differences in chest pain among Koreans with angina. Symptoms with high probability for OCAD were different between sexes. Our findings suggest that patient’s medical history in pretest assessment for OCAD should be individualized considering gender.

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.
Child ; Ear ; Exome* ; High-Throughput Nucleotide Sequencing ; Humans ; Karyotype ; Korea ; Language Development Disorders ; Lip ; Male ; Nose ; Parents ; Phenotype

BACKGROUND: Hemodynamic and functional evaluation with Doppler and tissue Doppler study as a part of comprehensive echocardiography is essential but normal reference values have never been reported from Korean normal population especially according to age and sex. METHODS: Using Normal echOcaRdiographic Measurements in a KoreAn popuLation study subjects, we obtained normal reference values for Doppler and tissue Doppler echocardiography including tricuspid annular velocities according to current guidelines and compared values according to gender and age groups. RESULTS: Mitral early diastolic (E) and late diastolic (A) velocity as well as E/A ratio were significantly higher in women compared to those in men. Conversely, mitral peak systolic and late diastolic annular velocity in both septal and lateral mitral annulus were significantly lower in women compared to those in men. However, there were no significant differences in both septal and lateral mitral early diastolic annular (e') velocity between men and women. In both men and women, mitral E velocity and its deceleration time as well as both E/A and E/e' ratio considerably increased with age. There were no significant differences in tricuspid inflow velocities and tricuspid lateral annular velocities between men and women except e' velocity, which was significantly higher in women compared to that in men. However, changes in both tricuspid inflow and lateral annular velocities according to age were similar to those in mitral velocities. CONCLUSION: Since there were significant differences in Doppler and tissue Doppler echocardiographic variables between men and women and changes according to age were even more considerable in both gender groups, normal Doppler echocardiographic values should be differentially applied based on age and sex.
Deceleration ; Echocardiography* ; Echocardiography, Doppler ; Female ; Hemodynamics ; Humans ; Male ; Reference Values

BACKGROUND: Exercise-stress electrocardiography (ECG) is initially recommended for the diagnosis of coronary artery disease. But its value has been questioned in women because of suboptimal diagnostic accuracy. Stress echocardiography had been reported to have comparable test accuracy in women. But the data comparing the diagnostic accuracy of exercise-stress ECG and stress echocardiography directly are few. The aim of the study was to compare the diagnostic accuracy of exercise-stress ECG and dobutamine stress echocardiography (DSE) in Korean women. METHODS: 202 consecutive female patients who presented with chest pain in outpatient clinic, and who underwent treadmill exercise test (TET), DSE and coronary angiography were included for the study. The diagnostic accuracy TET and DSE were calculated by the definition of > 50% or > 75% coronary artery stenosis (CAS). RESULTS: The sensitivity and specificity were higher with DSE (70.4, 94.6%) than TET (53.7, 73.6%) for detection of > 50% CAS. The higher accuracy of DSE was maintained after exclusion of the patients who could not achieve over 85% age predicted heart rate before ischemia induction. DSE also showed greater diagnostic accuracy than TET by > 75% CAS criteria, and in subsets of patient with intermediate pretest probability. CONCLUSION: In the diagnosis of CAS, DSE showed higher accuracy than TET in female patients who presented with chest pain. As well as the test accuracy, adequate stress was more feasible with DSE than TET. These finding suggests DSE may be used as the first-line diagnostic tool in the detection of CAS in women with chest pain.
Ambulatory Care Facilities ; Chest Pain ; Coronary Angiography ; Coronary Artery Disease ; Coronary Stenosis* ; Coronary Vessels* ; Diagnosis ; Echocardiography, Stress* ; Electrocardiography* ; Exercise Test ; Female ; Head* ; Heart Rate ; Humans ; Ischemia ; Sensitivity and Specificity

BACKGROUND: It is important to understand the distribution of 2-dimensional strain values in normal population. We performed a multicenter trial to measure normal echocardiographic values in the Korean population. METHODS: This was a substudy of the Normal echOcardiogRaphic Measurements in KoreAn popuLation (NORMAL) study. Echocardiographic specialists measured frequently used echocardiographic indices in healthy people according to a standardized method at 23 different university hospitals. The strain values were analyzed from digitally stored images. RESULTS: Of a total of 1003 healthy participants in NORMAL study, 2-dimensional strain values were measured in 501 subjects (265 females, mean age 47 ± 15 years old) with echocardiographic images only by GE echocardiographic machines. Interventricular septal thickness, left ventricular (LV) posterior wall thickness, systolic and diastolic LV dimensions, and LV ejection fraction were 7.5 ± 1.0 mm, 7.4 ± 1.0 mm, 29.9 ± 2.8 mm, 48.9 ± 3.6 mm, and 62 ± 4%, respectively. LV longitudinal systolic strain (LS) values of apical 4-chamber (A4C) view, apical 3-chamber (A3C) view, apical 2-chamber (A2C) view, and LV global LS (LVGLS) were −20.1 ± 2.3, −19.9 ± 2.7, −21.2 ± 2.6, and −20.4 ± 2.2%, respectively. LV longitudinal systolic strain rate (LVLSR) values of the A4C view, A3C view, A2C view, and LV global LSR (LVGLSR) were −1.18 ± 0.18, −1.20 ± 0.21, −1.25 ± 0.21, and −1.21 ± 0.21(−s), respectively. Females had lower LVGLS (−21.2 ± 2.2% vs. −19.5 ± 1.9%, p < 0.001) and LVGLSR (−1.25 ± 0.18(−s) vs. −1.17 ± 0.15(−s), p < 0.001) values than males. CONCLUSION: We measured LV longitudinal strain and strain rate values in the normal Korean population. Since considerable gender differences were observed, normal echocardiographic cutoff values should be differentially applied based on sex.
Echocardiography* ; Female ; Healthy Volunteers ; Heart Ventricles* ; Hospitals, University ; Humans ; Male ; Methods ; Multicenter Studies as Topic ; Reference Values ; Specialization

BACKGROUND: Measurement of the cardiac chamber is essential, and current guidelines recommend measuring and reporting values for both sides of the cardiac chamber during echocardiographic evaluation. Normal echocardiographic reference values have been suggested previously, but detailed information about right-sided chambers and values according to gender was not included. METHODS: This is a prospective multicenter (23 centers) study evaluating normal Korean adult subjects using comprehensive echocardiography. We included normal adult subjects (age; 20-79 years old) who had no significant cardiac disorders or illnesses, such as hypertension or diabetes, which could affect cardiac structure and function. We measured the cardiac chamber including both right and left ventricles as well as atria according to current echocardiography guidelines and compared values according to gender and age groups. RESULTS: A total of 1003 subjects were evaluated and the mean age was 48 +/- 16 years. Left ventricular (LV) dimensions increased, but LV volume decreased in older subjects. Right ventricular (RV) area decreased in women and older subjects, and the RV long-axis dimension showed a similar trend. Left atrial (LA) volume increased in men but there were no differences in LA volume index between men and women. The dimension of great arteries increased in men and older subjects. CONCLUSION: Since there were considerable differences between men and women and in the different age groups, and the trends differed significantly between different echo variables, normal echocardiographic cutoff values should be differentially applied based on age and gender.
Adult ; Arteries* ; Echocardiography* ; Female ; Heart Ventricles ; Humans ; Hypertension ; Male ; Prospective Studies ; Reference Values

A 73-year-old, previously healthy man presented with nausea, vomiting, diarrhea, dry mouth and febrile sensation 3 hours after eating boiled wild mushrooms. After admission, he showed progressive severe respiratory distress, pancytopenia, azotemia, hypotension, hypoxemia and consolidation of the entire left lung on chest radiography. With a preliminary diagnosis of necrotizing pneumonia, he underwent left pneumonectomy in order to remove all necrotic lung tissue. Lung histology showed extensive hemorrhagic necrosis, massive inflammatory cell infiltration, prominent proliferation of young fibroblasts and the formation of an early-stage hyaline membrane along the alveolar wall. Despite aggressive treatment, including mechanical ventilation, continuous renal replacement therapy and administration of granulocyte colony stimulating factor and broad spectrum antibiotics, he died on hospitalization day 13. Subsequently, the mushroom was identified as Podostroma cornu-damae. This is the first case of a histological evidence of lung involvement by Podostroma cornu-damae poisoning in Korea.
Agaricales* ; Aged* ; Anoxia ; Anti-Bacterial Agents ; Azotemia ; Colony-Stimulating Factors ; Diagnosis ; Diarrhea ; Eating* ; Fibroblasts ; Granulocytes ; Hospitalization ; Humans ; Hyalin ; Hypotension ; Korea ; Lung ; Membranes ; Mouth ; Mushroom Poisoning ; Nausea ; Necrosis ; Pancytopenia ; Pneumonectomy ; Pneumonia ; Poisoning ; Radiography ; Renal Replacement Therapy ; Respiration, Artificial ; Respiratory Insufficiency* ; Sensation ; Thorax ; Vomiting

PURPOSE: Influenza virus is one of the most important viruses that cause the respiratory infection seasonally. In April 2009, H1N1 was detected in America and Mexico and then there was pandemic in Korea. We investigated the difference of clinical and laboratory findings between the infections of H1N1 and Influenza B. METHODS: We have retrospectively studied the patients under age of 15 years who visited Inje University Sanggye Paik Hospital from August 2009 to April 2010. Evaluation for influenza infection was performed by rapid antigen test or multiplex reverse transcriptase polymerase chain reaction. Complete blood count with differential counts, C-reactive protein and chest X-ray were checked. RESULTS: Enrolled patients were 2,226 in H1N1-infected group and 288 in influenza B-infected group. Seasonal variation was that H1N1 in autumn and winter but influenza B in spring. The male-to-female sex ratio was same as 1.23 in each group. The mean age of H1N1-infected group was higher than influenza B-infected group (P<0.001). Fever was developed similarly in both groups (P=0.114). However, cough, sputum, rhinorrhea, vomiting, diarrhea, and headache were more prevalent in influenza B infection compared to H1N1 infection (P<0.001). Pneumonia development and admission rate were higher in influenza B infection compared to H1N1 infection (P<0.001, respectively). CONCLUSION: Although H1N1 infection spread rapidly, H1N1 caused not so severe symptoms than influenza B. Because of the possibility that influenza epidemic will develop repeatedly in the future, we need to evaluate more about different characteristics depending on the virus subtype and prepare for them.
Americas ; Blood Cell Count ; C-Reactive Protein ; Cough ; Diarrhea ; Fever ; Headache ; Humans ; Influenza, Human ; Korea ; Mexico ; Orthomyxoviridae ; Pandemics ; Pneumonia ; Retrospective Studies ; Reverse Transcriptase Polymerase Chain Reaction ; Seasons ; Sex Ratio ; Sputum ; Thorax ; Viruses ; Vomiting