Purpose: Preclinical data indicate that response to radiotherapy (RT) depends on DNA damage repair. In this study, we investigated the role of mutations in genes related to DNA damage repair in treatment outcome after RT. Materials and Methods: Patients with solid tumor who participated in next generation sequencing panel screening using biopsied tumor tissue between October 2013 and February 2019 were reviewed and 97 patients that received RT were included in this study. Best response to RT and the cumulative local recurrence rate (LRR) were compared according to absence or presence of missense, nonsense, and frameshift mutations in ATM and/or BRCA1/2. Results: Of the 97 patients, five patients harbored mutation only in ATM, 22 in only BRCA1/2, and six in both ATM and BRCA1/2 (ATMmtBRCAmt). Propensity score matching was performed to select the control group without mutations (ATMwtBRCAwt, n=33). In total, 90 RT-treated target lesions were evaluated in 66 patients. Highest objective response rate of 80% was observed in ATMmtBRCAmt lesions (p=0.007), which was mostly durable. Furthermore, the cumulative 1-year LRR was the lowest in ATMmtBRCAmt lesions and the highest in ATMwtBRCAwt lesions (0% vs. 47.9%, p=0.008). RT-associated toxicities were observed in 10 treatments with no significant difference among the subgroups (p=0.680). Conclusion Tumors with ATM and BRCA1/2 mutations exhibited superior tumor response and local control after RT compared to tumors without these mutations. The results are hypothesis generating and suggest the need for integrating the tumor mutation profile of DNA repair genes during treatment planning.

Purpose: With changing fungal epidemiology and azole resistance in Aspergillus species, identifying fungal species and susceptibility patterns is crucial to the management of aspergillosis and mucormycosis. The objectives of this study were to evaluate performance of panfungal polymerase chain reaction (PCR) assays on formalin-fixed paraffin embedded (FFPE) samples in the identification of fungal species and in the detection of azole-resistance mutations in the Aspergillus fumigatus cyp51A gene at a South Korean hospital. Materials and Methods: A total of 75 FFPE specimens with a histopathological diagnosis of aspergillosis or mucormycosis were identified during the 10-year study period (2006–2015). After deparaffinization and DNA extraction, panfungal PCR assays were conducted on FFPE samples for fungal species identification. The identified fungal species were compared with histopathological diagnosis. On samples identified as A. fumigatus, sequencing to identify frequent mutations in the cyp51A gene [tandem repeat 46 (TR46), L98H, and M220 alterations] that confer azole resistance was performed. Results: Specific fungal DNA was identified in 31 (41.3%) FFPE samples, and of these, 16 samples of specific fungal DNA were in accord with a histopathological diagnosis of aspergillosis or mucormycosis; 15 samples had discordant histopathology and PCR results. No azole-mediating cyp51A gene mutation was noted among nine cases of aspergillosis. Moreover, no cyp51A mutations were identified among three cases with history of prior azole use. Conclusion Panfungal PCR assay with FFPE samples may provide additional information of use to fungal species identification. No azole-resistance mediating mutations in the A. fumigatus cyp51A gene were identified among FFPE samples during study period.

OBJECTIVE: To determine correlation of the Korean version of Falls Efficacy Scale-International (KFES-I) with other gait and balance parameters through exercise program in older men. METHODS: Between July 2015 and April 2018, 50 men of 103 participants in an exercise program for preventing falls who aged over 60 years, completed the evaluation before and after the program, had fear of falling (FOF), and could walk independently as an outpatient were enrolled retrospectively. The program comprised lower extremities and core muscle strengthening exercises following stretching exercises twice a week for 8 weeks. FOF using the KFES-I, Berg Balance Scale (BBS), Modified Barthel Index (MBI), stair up and gait categories in MBI (MBI-gait), and Timed Up and Go test (TUG) were evaluated. Quantitative gait and balance parameters were measured by gait analysis, posturography, and isokinetic dynamometer. They were compared before and after the program. Moreover, correlations of KFES-I with other parameters were examined. RESULTS: Fifty participants were enrolled. After the program, significant improvements were noted in right stride length (p=0.013) in gait analysis, MBI (p=0.012), BBS (p<0.000), TUG test (p<0.000), and KFES-I (p<0.000) scores. KFES-I was significantly correlated with MBI (r=-0.35, p=0.013), and MBI-gait (r=-0.341, p=0.015). CONCLUSION: Risk of falls could be significantly improved through exercise. KFES-I had significant correlations with MBI-gait parameters. Participants showed increases in gait and balancing ability on quantitative measurements through exercises. Therefore, regular stretching, strengthening, and balancing exercises may help prevent falls in older people.
Accidental Falls ; Aged ; Asian Continental Ancestry Group ; Exercise ; Gait ; Humans ; Lower Extremity ; Male ; Outpatients ; Retrospective Studies

This study was performed to characterize respiratory viral infections in pediatric patients undergoing hematopoietic stem cell transplantation (HSCT). Study samples included 402 respiratory specimens obtained from 358 clinical episodes that occurred in the 116 children of the 175 consecutive HSCT cohort at Seoul National University Children's Hospital, Korea from 2007 to 2010. Multiplex reverse-transcription polymerase chain reactions were performed for rhinovirus, respiratory syncytial virus (RSV), parainfluenza viruses (PIVs), adenovirus, human coronavirus (hCoV), influenza viruses and human metapneumovirus. Viruses were identified in 89 clinical episodes that occurred in 58 patients. Among the 89 clinical episodes, frequently detected viruses were rhinovirus in 25 (28.1%), RSV in 23 (25.8%), PIV-3 in 16 (18.0%), adenovirus in 12 (13.5%), and hCoV in 10 (11.2%). Lower respiratory tract infections were diagnosed in 34 (38.2%). Neutropenia was present in 24 (27.0%) episodes and lymphopenia was in 31 (34.8%) episodes. Sixty-three percent of the clinical episodes were hospital-acquired. Three patients died of respiratory failure caused by respiratory viral infections. Respiratory viral infections in pediatric patients who have undergone HSCT are common and are frequently acquired during hospitalization. Continuous monitoring is required to determine the role of respiratory viruses in immunocompromised children and the importance of preventive strategies.
Adenoviridae/genetics/isolation & purification ; Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Coronavirus/genetics/isolation & purification ; Female ; *Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells/cytology ; Hospitalization ; Humans ; Infant ; Lymphopenia/epidemiology ; Male ; Neutropenia/epidemiology ; Parainfluenza Virus 3, Human/genetics/isolation & purification ; Prevalence ; Respiratory Syncytial Viruses/genetics/isolation & purification ; Respiratory Tract Infections/epidemiology/therapy/*virology ; Reverse Transcriptase Polymerase Chain Reaction ; Rhinovirus/genetics/isolation & purification ; Seasons ; Young Adult

Few literatures have elaborated on the clinical characteristics of children with thalassemia from low-prevalence areas. A retrospective analysis was conducted on children genetically confirmed with thalassemia at Seoul National University Children's Hospital in Korea. Nine children (1alpha thalassemia trait, 6beta thalassemia minor, 2beta thalassemia intermedia) were diagnosed with thalassemia at median age of 4.3 yr old with median hemoglobin of 9.7 g/dL. Seven (78%) children were incidentally found to be anemic and only 2 with beta thalassemia intermedia had presenting symptoms. Five children (56%) were initially misdiagnosed with iron deficiency anemia. Despite the comorbidities due to alpha thalassemia mental retardation syndrome, the child with alpha thalassemia trait had mild hematologic profile. Children with beta thalassemia intermedia had the worst phenotypes due to dominantly inherited mutations. None of the children was transfusion dependent and most of them had no complications associated with thalassemia. Only 1 child (11%) with codon 60 (T-->A) mutation of the HBB gene needed red blood cell transfusions. He also had splenomegaly, cholelithiasis, and calvarial vault thickening. Pediatricians in Korea must acknowledge thalassemia as a possible diagnosis in children with microcytic hypochromic hemolytic anemia. High level of suspicion will allow timely diagnosis and managements.
Blood Transfusion ; Child ; Child, Preschool ; Female ; Genotype ; Hemoglobin A, Glycosylated/genetics ; Hemoglobin A2/genetics ; Humans ; Male ; Medical Records/statistics & numerical data ; Prevalence ; Republic of Korea/epidemiology ; Retrospective Studies ; alpha-Globins/*genetics ; alpha-Thalassemia/diagnosis/epidemiology/*genetics ; beta-Globins/*genetics ; beta-Thalassemia/diagnosis/epidemiology/*genetics

Primary cardiac lymphoma (PCL) is a rare disorder, but the incidence is increasing and its clinical manifestations are various. We report a case of PCL, which mimics an acute coronary and aortic syndrome. A 51 year-old female was presented with chest pain radiating to the back. Her initial electrocardiogram revealed T wave inversion in the leads of V 5-6, II, III and aVF. Additionally, cardiac troponin-T was slightly elevated. Chest radiography showed marked mediastinal widening. Computed tomography scan showed a huge pericardial mass. The histopathologic findings of the mass were compatible with diffuse large B cell lymphoma. She died of refractory ventricular tachycardia, probably, due to an extensive infiltration of PCL to the myocardium.
Acute Coronary Syndrome ; Chest Pain ; Electrocardiography ; Female ; Heart Neoplasms ; Humans ; Incidence ; Lymphoma ; Lymphoma, B-Cell ; Myocardium ; Tachycardia, Ventricular ; Thorax ; Troponin T

Acute total obstruction of the left main coronary artery (LMCA) is a serious emergency condition requiring prompt diagnosis and treatment. Unless properly treated, it will likely progress to cardiogenic shock and a high mortality rate. We report a case of acute LMCA total obstruction presenting with atypical momentary electrocardiogram (ECG) changes including right bundle branch block with left axis deviation, and ST-segment elevation in aVR and aVL. We focus on the unusual ECG changes associated with LMCA obstruction which should be noted in order to ensure revascularization without delay, especially when this condition is accompanied by cardiogenic shock.
Axis, Cervical Vertebra ; Bundle-Branch Block ; Coronary Vessels ; Dietary Sucrose ; Electrocardiography ; Emergencies ; Shock, Cardiogenic

BACKGROUND AND OBJECTIVES: Aspiration thrombectomy (AT) during primary percutaneous coronary intervention (PCI) is an effective adjunctive therapy for ST-segment elevation myocardial infarction (STEMI). An elevated neutrophil count in STEMI is associated with microvascular dysfunction and adverse outcomes. We evaluated whether AT can improve microvascular dysfunction in patients with STEMI and an elevated neutrophil count. SUBJECTS AND METHODS: Seventy patients with STEMI undergoing primary PCI from August 2007 to February 2009 in our institution were classified by tertiles of neutrophil count on admission (<5,300/mm3, 5,300-7,600/mm3, and >7,600/mm3). The angiographic outcome was post-procedural thrombolysis in myocardial infarction (TIMI) flow grade. Microvascular dysfunction was assessed by TIMI myocardial perfusion (TMP) grade and ST-segment resolution on electrocardiography 90 minutes after PCI. The clinical outcome was major adverse cardiac event (MACE), defined as cardiac death, re-infarction, and target lesion revascularization at 9 months. RESULTS: There were no significant differences in the clinical characteristics and pre- and post-procedural TIMI flow grades between the neutrophil tertiles. As the neutrophil count increased, a lower tendency toward TMP grade 3 (83% vs. 52% vs. 54%, p=0.06) and more persistent residual ST-segment elevation (>4 mm: 13% vs. 26% vs. 58%, p=0.005) was observed. The 9-month MACE rate was similar between the groups. On subgroup analysis of AT patients (n=52) classified by neutrophil tertiles, the same tendency toward less frequent TMP grade 3 (77% vs. 56% vs. 47%, p=0.06) and persistent residual ST-segment elevation (>4 mm: 12% vs. 28% vs. 53%, p=0.05) was observed as neutrophil count increased. CONCLUSION: A higher neutrophil count at presentation in STEMI is associated with more severe microvascular dysfunction after primary PCI, which is not improved with AT.
Death ; Electrocardiography ; Humans ; Myocardial Infarction ; Neutrophils ; Percutaneous Coronary Intervention ; Perfusion ; Thrombectomy ; Thymidine Monophosphate

BACKGROUND AND OBJECTIVES: Aspiration thrombectomy (AT) during primary percutaneous coronary intervention (PCI) is an effective adjunctive therapy for ST-segment elevation myocardial infarction (STEMI). An elevated neutrophil count in STEMI is associated with microvascular dysfunction and adverse outcomes. We evaluated whether AT can improve microvascular dysfunction in patients with STEMI and an elevated neutrophil count. SUBJECTS AND METHODS: Seventy patients with STEMI undergoing primary PCI from August 2007 to February 2009 in our institution were classified by tertiles of neutrophil count on admission (<5,300/mm3, 5,300-7,600/mm3, and >7,600/mm3). The angiographic outcome was post-procedural thrombolysis in myocardial infarction (TIMI) flow grade. Microvascular dysfunction was assessed by TIMI myocardial perfusion (TMP) grade and ST-segment resolution on electrocardiography 90 minutes after PCI. The clinical outcome was major adverse cardiac event (MACE), defined as cardiac death, re-infarction, and target lesion revascularization at 9 months. RESULTS: There were no significant differences in the clinical characteristics and pre- and post-procedural TIMI flow grades between the neutrophil tertiles. As the neutrophil count increased, a lower tendency toward TMP grade 3 (83% vs. 52% vs. 54%, p=0.06) and more persistent residual ST-segment elevation (>4 mm: 13% vs. 26% vs. 58%, p=0.005) was observed. The 9-month MACE rate was similar between the groups. On subgroup analysis of AT patients (n=52) classified by neutrophil tertiles, the same tendency toward less frequent TMP grade 3 (77% vs. 56% vs. 47%, p=0.06) and persistent residual ST-segment elevation (>4 mm: 12% vs. 28% vs. 53%, p=0.05) was observed as neutrophil count increased. CONCLUSION: A higher neutrophil count at presentation in STEMI is associated with more severe microvascular dysfunction after primary PCI, which is not improved with AT.
Death ; Electrocardiography ; Humans ; Myocardial Infarction ; Neutrophils ; Percutaneous Coronary Intervention ; Perfusion ; Thrombectomy ; Thymidine Monophosphate

OBJECTIVES: Children with attention-deficit hyperactivity disorder (ADHD) often have difficulties in social behavior. The aim of this study was to evaluate the effectiveness of a short-term training program for improving social skills, selfperception and attention deficits. METHODS: The subjects were nine children diagnosed with ADHD with (or without) other mental disorders using the Diagnostic Interview Schedule for Children (DISC-ADHD) module. Children were given eight sessions of a social skills training program. Parents of children simultaneously participated in their own training which was designed to support their children's generalization of skills. Assessments included child, parent and teacher ratings of social skills, self-perception and attention deficit at baseline and post-treatment. RESULTS: Social skills training led to significant improvements in child-reported measures of self-esteem, in teacherreported measures of social skills, and in parent-reported measures of attention deficit. CONCLUSION: This study suggests that short-term social skills training programs for children with ADHD may improve their social skills, self-perception and attention deficits.
Appointments and Schedules ; Child ; Generalization (Psychology) ; Humans ; Mental Disorders ; Parents ; Self Concept ; Social Behavior