Purpose: Neuregulin 1 (NRG1) gene fusion is a potentially actionable oncogenic driver. The oncoprotein binds to ERBB3-ERBB2 heterodimers and activates downstream signaling, supporting a therapeutic approach for inhibiting ERBB3/ERBB2. However, the frequency and clinicopathological features of solid tumors harboring NRG1 fusions in Korean patients remain largely unknown. Materials and Methods: We reviewed archival data from next-generation sequencing panel tests conducted at a single institution, specifically selecting patients with in-frame fusions that preserved the functional domain. The clinicopathological characteristics of patients harboring NRG1 fusions were retrospectively reviewed. Results: Out of 8,148 patients, NRG1 fusions were identified in 22 patients (0.27%). The average age of the patients was 59 years (range, 32 to 78 years), and the male-to-female ratio was 1:1.2. The lung was the most frequently observed primary site (n=13), followed by the pancreaticobiliary tract (n=3), gastrointestinal tract (n=2, stomach and rectum each), ovary (n=2), breast (n=1), and soft tissue (n=1). Histologically, all tumors demonstrated adenocarcinoma histology, with the exception of one case of sarcoma. CD74 (n=8) and SLC3A2 (n=4) were the most frequently identified fusion partners. Dominant features included the presence of fewer than three co-occurring genetic alterations, a low tumor mutation burden, and low programmed death-ligand 1 expression. Various clinical responses were observed in patients with NRG1 fusions. Conclusion Despite the rarity of NRG1 fusions in Korean patients with solid tumors, identification through next-generation sequencing enables the possibility of new targeted therapies.

Purpose: Under the South Korea’s unique health insurance structure, any new surgical technology must be evaluated first by the government in order to consider whether that particular technology can be applied to patients for further clinical trials as categorized as ‘New Health Technology,’ then potentially covered by the insurance sometime later. The aim of this meta-analysis was to assess the safety and efficacy of transanal total mesorectal excision (TaTME) for rectal cancer, activated by the National Evidence-based Healthcare Collaborating Agency (NECA) TaTME committee. Methods: We systematically searched Ovid-MEDLINE, Ovid-Embase, Cochrane, and Korean databases (from their inception until August 31, 2019) for studies published that compare TaTME with laparoscopic total mesorectal excision (LaTME). End-points included perioperative and pathological outcomes. Results: Sixteen cohort studies (7 for case-matched studies) were identified, comprising 1,923 patients (938 TaTMEs and 985 LaTMEs). Regarding perioperative outcomes, the conversion rate was significantly lower in TaTME (risk ratio, 0.19; 95% confidence interval, 0.11–0.34; P < 0.001); whereas other perioperative outcomes were similar to LaTME. There were no statistically significant differences in pathological results between the 2 procedures. Conclusion Our meta-analysis showed comparable results in preoperative and pathologic outcomes between TaTME and LaTME, and indicated the benefit of TaTME with low conversion. Extensive evaluations of well-designed, multicenter randomized controlled trials are required to come to unequivocal conclusions, but the results showed that TaTME is a potentially beneficial technique in some specific cases. This meta-analysis suggests that TaTME can be performed for rectal cancer patients as a ‘New Health Technology’ endorsed by NECA in South Korea.

Purpose: Under the South Korea’s unique health insurance structure, any new surgical technology must be evaluated first by the government in order to consider whether that particular technology can be applied to patients for further clinical trials as categorized as ‘New Health Technology,’ then potentially covered by the insurance sometime later. The aim of this meta-analysis was to assess the safety and efficacy of transanal total mesorectal excision (TaTME) for rectal cancer, activated by the National Evidence-based Healthcare Collaborating Agency (NECA) TaTME committee. Methods: We systematically searched Ovid-MEDLINE, Ovid-Embase, Cochrane, and Korean databases (from their inception until August 31, 2019) for studies published that compare TaTME with laparoscopic total mesorectal excision (LaTME). End-points included perioperative and pathological outcomes. Results: Sixteen cohort studies (7 for case-matched studies) were identified, comprising 1,923 patients (938 TaTMEs and 985 LaTMEs). Regarding perioperative outcomes, the conversion rate was significantly lower in TaTME (risk ratio, 0.19; 95% confidence interval, 0.11–0.34; P < 0.001); whereas other perioperative outcomes were similar to LaTME. There were no statistically significant differences in pathological results between the 2 procedures. Conclusion Our meta-analysis showed comparable results in preoperative and pathologic outcomes between TaTME and LaTME, and indicated the benefit of TaTME with low conversion. Extensive evaluations of well-designed, multicenter randomized controlled trials are required to come to unequivocal conclusions, but the results showed that TaTME is a potentially beneficial technique in some specific cases. This meta-analysis suggests that TaTME can be performed for rectal cancer patients as a ‘New Health Technology’ endorsed by NECA in South Korea.

BACKGROUND: Results of limb lengthening in patients with achondroplasia were previously reported in many studies. However, the reports of comparison among the three long bones (femur, tibia, and humerus) are rare, especially for the results of crossed lengthening (lengthening of one femur and contralateral tibia followed by that of the opposite side) for the lower limbs. The purpose of this study was to report the surgical results of a series of limb lengthening in achondroplastic or hypochondroplasia patients at our institution. METHODS: Fifteen patients (14 with achondroplasia and 1 with hypochondroplasia) underwent lower limb lengthening of the femur (n = 32) and tibia (n = 28), and 12 of them underwent crossed lengthening. Humeral lengthening was performed in 14 patients (n = 28). The mean age at the first operation was 11.7 years, and the mean follow-up duration was 66.7 months. The healing index, consolidation period index (duration of consolidation period/gained length), and other radiographic indices were analyzed. Limb length discrepancy and hip-knee-ankle alignment in lower limbs, and the occurrence of difficulties were assessed. RESULTS: The average gain in length for the femur, tibia, and humerus was 8.3 cm, 8.5 cm, and 7.4 cm, respectively. The mean healing index was 29.6 days/cm for the femur, 29.0 days/cm for the tibia, and 27.2 days/cm for the humerus. The mean consolidation period index was 14.7 days/cm for the humerus, which was significantly lower than that in the lower limb (17.3 days/cm for the femur and 17.8 days/cm for the tibia). Of the 12 who underwent crossed lengthening, five showed limb length discrepancy ≥ 1.0 cm. Among their 24 lower limbs, three showed valgus alignment ≥ 5° and one showed varus alignment ≥ 5°. Thirty-two pin site infections and three fractures were conservatively managed. Three femoral fractures, eight equinus deformities, and four cases with premature consolidation of the fibula were surgically treated. Obstacle and true complication related to humeral lengthening were not observed. CONCLUSIONS: Humeral lengthening was relatively effective and safe. Careful attention will be needed to avoid the occurrence of limb length discrepancy or malalignment in crossed lengthening.
Achondroplasia ; Equinus Deformity ; Extremities ; Femoral Fractures ; Femur ; Fibula ; Follow-Up Studies ; Humans ; Humerus ; Lower Extremity ; Osteogenesis, Distraction ; Tibia

BACKGROUND/AIMS: This study evaluated the role of hypomethylating agents (HMA) compared to best supportive care (BSC) for patients with high or very-high (H/VH) risk myelodysplastic syndrome (MDS) according to the Revised International Prognostic Scoring System. METHODS: A total of 279 H/VH risk MDS patients registered in the Korean MDS Working Party database were retrospectively analyzed. RESULTS: HMA therapy was administered to 205 patients (73.5%), including 31 patients (11.1%) who then received allogeneic hematopoietic cell transplantation (allo-HCT), while 74 patients (26.5%) received BSC or allo-HCT without HMA. The 3-year overall survival (OS) rates were 53.1% ± 10.7% for allo-HCT with HMA, 75% ± 21.7% for allo-HCT without HMA, 17.3% ± 3.6% for HMA, and 20.8% ± 6.9% for BSC groups (p < 0.001). In the multivariate analysis, only allo-HCT was related with favorable OS (hazard ratio [HR], 0.356; p = 0.002), while very poor cytogenetic risk (HR, 5.696; p = 0.042), age ≥ 65 years (HR, 1.578; p = 0.022), Eastern Cooperative Oncology Group performance status (ECOG PS) 2 to 4 (HR, 2.837; p < 0.001), and transformation to acute myeloid leukemia (AML) (HR, 1.901; p = 0.001) all had an adverse effect on OS. CONCLUSIONS: For the H/VH risk group, very poor cytogenetic risk, age ≥ 65 years, ECOG PS 2 to 4, and AML transformation were poor prognostic factors. HMA showed no benefit in terms of OS when compared to BSC. Allo-HCT was the only factor predicting a favorable long-term outcome. The use of HMA therapy did not seem to have an adverse effect on the transplantation outcomes. However, the conclusion of this study should be carefully interpreted and proven by large scale research in the future.
Cell Transplantation ; Cytogenetics ; Humans ; Leukemia, Myeloid, Acute ; Multivariate Analysis ; Myelodysplastic Syndromes* ; Retrospective Studies ; Transplants

Most patients diagnosed with takotsubo cardiomyopathies are expected to almost completely recover, and their prognosis is excellent. However, complications can occur in the acute phase. We present a case of a woman with takotsubo cardiomyopathy with right ventricular involvement who developed a rupture of the right ventricular free wall following ventricular septal rupture, as a consequence of an acute increase in right ventricular afterload by left-to-right shunt. Our case report illustrates that takotsubo cardiomyopathy can be life threatening in the acute phase. Ventricular septal rupture in biventricular takotsubo cardiomyopathy may be a harbinger of cardiac tamponade by right ventricular rupture.
Acute Disease ; Aged ; Female ; Heart Ventricles/injuries ; Humans ; Prognosis ; Takotsubo Cardiomyopathy/*complications ; Ventricular Septal Rupture/*etiology

BACKGROUND/AIMS: This study aimed to evaluate the efficacy of computed tomography (CT)-guided bone biopsy for the diagnosis of spinal infection and compared the clinical outcomes between tuberculous and pyogenic spinal infections. METHODS: The retrospective cohort study included patients who received CT-guided bone biopsy at a tertiary hospital over the 13 years. RESULTS: Among 100 patients, 67 had pyogenic spondylitis and 33 had tuberculous spondylitis. Pathogens were isolated from bone specimens obtained by CT-guided biopsy in 42 cases, with diagnostic yields of 61% (20/33) for tuberculous spondylitis and 33% (22/67) for pyogenic spondylitis. For 36 culture-proven pyogenic cases, Staphylococcus aureus was the most commonly isolated organism. Patients with pyogenic spondylitis more frequently presented with fever accompanied by an increase in inflammatory markers than did those with tuberculosis. Among all patients who underwent surgery, the incidence of late surgery performed one month after diagnosis was higher in patients with tuberculous infection (56.3%) than in those with pyogenic disease (23.3%, p = 0.026). CONCLUSIONS: Results obtained by CT-guided bone biopsy contributed to prompt diagnoses of spinal infections, especially those caused by tuberculosis. Despite administration of anti-tuberculous agents, patients with tuberculous spondylitis showed an increased tendency to undergo late surgery.
Biopsy* ; Cohort Studies ; Diagnosis ; Fever ; Humans ; Incidence ; Retrospective Studies ; Spondylitis* ; Staphylococcus aureus ; Tertiary Care Centers ; Tuberculosis

OBJECTIVES: The purposes of this study were to examine the reliability and validity of the Korean version of Social Communication Questionnaire (K-SCQ) and to determine cut-off scores for diagnosis of autism spectrum disorder (ASD). METHODS: A total of 166 subjects with ASD and their 186 unaffected siblings were recruited through child psychiatry clinics of university hospitals. Board certified child psychiatrists screened all probands suspected to have ASD based on the Diagnostic and Statistical Manual of Mental Disorders, fourth edition. To confirm the diagnoses, the Korean versions of the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised (K-ADI-R) were administered to all the subjects. All parents completed the K-SCQ and Social Responsiveness Scale (SRS). The non-ASD siblings were evaluated with the same instruments as the probands with ASD. We performed a factor analysis to examine the structure of K-SCQ. For testing the validity of K-SCQ, we compared the difference in Lifetime and Current scores of probands with ASD and their non-ASD siblings using t-test and analysis of covariance. Correlations between the K-SCQ and other measurements of ASD symptomatology, including K-ADI-R totals and domain scores and SRS, were examined. Receiver operation characteristic curve analysis was performed to extract cutoff scores discriminating affection status. RESULTS: Four factors were extracted through factor analysis of K-SCQ ; 1) social relation and play, 2) stereotyped behavior, 3) social behavior, and 4) abnormal language. Cronbach's internal consistency was .95 in K-SCQ Lifetime, and .93 in K-SCQ Current. There were significant differences in total score of K-SCQ, both in Lifetime and Current between the ASD group and non-ASD siblings group (p<.001). K-SCQ scores were significantly correlated with K-ADI-R subdomain scores and SRS total scores (p<.001). The best-estimate cut-off scores of K-SCQ for diagnosis of ASD were 12 for 48 months and over, and 10 for below 47 months. CONCLUSION: Our findings suggest that the K-SCQ is a reliable and valid instrument for screening autistic symptoms in the Korean population. Lower cut-off scores than the original English version might be considered when using it as a screening instrument of ASD.
Appointments and Schedules ; Autistic Disorder ; Child ; Autism Spectrum Disorder ; Child Psychiatry ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Hospitals, University ; Humans ; Mass Screening ; Parents ; Psychiatry ; Reproducibility of Results ; Siblings ; Social Behavior ; Stereotyped Behavior

PURPOSE: To evaluate the efficacy of hydromorphone-OROS (HM-OROS) in reducing sleep disturbance and relieving cancer pain. MATERIALS AND METHODS: One hundred twenty cancer patients with pain (numeric rating scale [NRS] > or = 4) and sleep disturbance (NRS > or = 4) were evaluated. The initial HM-OROS dosing was based on previous opioid dose (HM-OROS:oral morphine=1:5). Dose adjustment of the study drug was permitted at the investigator\'s discretion. Pain intensity, number of breakthrough pain episodes, and quality of sleep were evaluated. RESULTS: A total of 120 patients received at least one dose of HM-OROS; 74 of them completed the final assessment. Compared to the previous opioids, HM-OROS reduced the average pain NRS from 5.3 to 4.1 (p < 0.01), worst pain NRS from 6.7 to 5.4 (p < 0.01), sleep disturbance NRS from 5.9 to 4.1 (p < 0.01), incidence of breakthrough pain at night from 2.63 to 1.53 times (p < 0.001), and immediate-release opioids use for the management of breakthrough pain from 0.83 to 0.39 times per night (p = 0.001). Of the 74 patients who completed the treatment, 83.7% indicated that they preferred HM-OROS to the previous medication. The adverse events (AEs) were somnolence, asthenia, constipation, dizziness, and nausea. CONCLUSION: HM-OROS was efficacious in reducing cancer pain and associated sleep disturbances. The AEs were manageable.
Analgesics, Opioid ; Asthenia ; Breakthrough Pain ; Constipation ; Dizziness ; Humans ; Incidence ; Nausea ; Prospective Studies*

BACKGROUND: There has been little data reporting the usefulness of intensivist-performed bedside drainage of pleural effusion via ultrasound (US)-guided pigtail catheter. The objective of this study is to clarify the usefulness and safety of these methods in comparison with radiologist-performed procedures. METHODS: Data of patients with pleural effusion treated with US-guided pigtail catheter drainage were analyzed. All procedures were performed from September 2012 to September. 2013 by a well-trained intensivist or radiologist. RESULTS: Pleural effusion was drained in 25 patients in 33 sessions. A radiologist performed 21 sessions, and an intensivist performed 12 sessions. Procedures during mechanical ventilation were performed in 15 (71.4%) patients by a radiologist and in 10 (83.3%) by an intensivist (p = 0.678). The success rate was not significantly different in radiologist- and intensivist-performed procedures, 95.2% (20/21) and 83.3% (10/12), respectively (p = 0.538). The average duration for procedures (including in-hospital transfer) was longer in radiologist-performed cases (p = 0.001). Although the results are limited because of the small population size, aggravation of oxygenation, CO2 retention, and decrease of mean arterial blood pressure were not statistically different in the groups. Pigtail-associated complications including hemothorax, pneumothorax, hepatic perforation, empyema, kink in the catheter, and subcutaneous hematoma were not found. CONCLUSIONS: Intensivist-performed bedside drainage of pleural effusion via ultrasound (US)-guided pigtail catheter is useful and safe and may be recommended in some patients in an intensive care unit.
Arterial Pressure ; Catheters* ; Drainage* ; Empyema ; Hematoma ; Hemothorax ; Humans ; Intensive Care Units ; Oxygen ; Pleural Effusion* ; Pneumothorax ; Population Density ; Research Design ; Respiration, Artificial ; Ultrasonography